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["Supplementary Table Next generation sequencing results of the propand"]
["Sample_ID","Chromosome Position","Chr","Reference Nucleotide","Genotype","Coverage","A(#F,#R)","C(#F,#R)","G(#F,#R)","T(#F,#R)","Ins(#F,#R)","Del(#F,#R)","Low coverage flag","Strand bias flag","Multi-allele flag","Dense SNPs flag","same_mutation_number","effect","Inheritance","OMIM Clinical Significance","Gene","Mutation_Call:Relative to CDS","RNA_accession","CDS","Amino Acid Change","VarLocation","SNP db_xref","Mutant Allele Frequency","1000Gp1_ASN_AF","1000Gp1_AF","ExAC_AF","ExAC_EAS_AF","exome_AF","exome_EAS_AF","Minimum base","Minimum frequency","Mutation base","Mutation frequency","HGMD_ID","Gent_type","type","Variant_class","Disease","SIFT_score","PolyPhen2_HDIV_pred","PolyPhen2_HVAR_pred","Mutation_Taster_pred","PhyloP","CLINVAR_CLNSIG","CLINVAR_TRAIT"]
["02160816100201_XZ",1147422,1,"C","CT",210,"0;0","57;32","0;0","72;49","0;0","0;0",0,1,0,0,6187,"Synonymous","N/A","IMMUNODEFICIENCY 16 (OMIM:615593)","TNFRSF4","c.534G>A","NM_003327.3","CDS5","p.E178E","Exon","rs17568",57.62,0.4547,0.757,0.3548,0.739,{"$nulls":4},"A",{"$nulls":6},".",".",".","P",0.491,".","."]
["02160816100201_XZ",1216581,1,"G","CG",215,"0;0","40;35","81;59","0;0","0;1","0;0",0,0,0,0,546,"Unknown",null,"N/A","SCNN1D","c.6-25G>C","NM_001130413.3",null,null,"Intron","rs1262893",34.88,{"$nulls":4},0.0657,0.0863,"C",0.06569,"C",0.06569]
["02160816100201_XZ",1217011,1,"A","AC",234,"50;75","35;72","1;0","0;0","0;0","1;0",0,0,0,1,655,"Unknown",null,"N/A","SCNN1D","c.277+21A>C","NM_001130413.3",null,null,"Intron","rs1262894",45.73,{"$nulls":4},0.2097,0.1042,"C",0.2097,"C",0.2097]
["02160816100201_XZ",1217020,1,"G","CG",217,"0;1","31;67","46;71","0;0","0;0","1;0",0,0,0,1,556,"Unknown",null,"N/A","SCNN1D","c.277+30G>C","NM_001130413.3",null,null,"Intron","rs1262895",45.16,{"$nulls":4},0.1637,0.0843,"C",0.1637,"C",0.1637]
["02160816100201_XZ",1223466,1,"C","delC",20,"0;0","2;3","0;2","0;0","0;0","5;8",0,0,0,0,1497,"Unknown",null,"N/A","SCNN1D","c.1662+50delC","NM_001130413.3",null,null,"Intron","rs58081058,rs773800305,rs796510821",65,{"$nulls":8},"delC"]
["02160816100201_XZ",1225641,1,"C","AC",197,"53;51","51;42","0;0","0;0","0;0","0;0",0,0,0,0,2892,"Unknown",null,"N/A","SCNN1D","c.1663-10C>A","NM_001130413.3",null,null,"Intron","rs2748384",52.79,{"$nulls":6},"A",0.4908,"A",0.4908]
["02160816100201_XZ",1225959,1,"C","GG",409,"4;0","2;1","181;221","0;0","0;0","0;0",0,0,0,0,3012,"Unknown",null,"N/A","SCNN1D","c.1859+24C>G","NM_001130413.3",null,null,"Intron","rs1570867",98.29,{"$nulls":4},0.5687,0.877,"C",0.4313,"G",0.5687]
["02160816100201_XZ",1226231,1,"G","AG",155,"39;56","0;0","27;33","0;0","0;0","0;0",0,0,0,0,458,"Unknown",null,"N/A","SCNN1D","c.1918-44G>A","NM_001130413.3",null,null,"Intron","rs13306638",61.29,{"$nulls":4},0.0711,0.0704,"A",0.07109,"A",0.07109]
["02160816100201_XZ",1226348,1,"C","GG",154,"0;0","0;0","76;78","0;0","0;0","0;0",0,0,0,0,2837,"Unknown",null,"N/A","SCNN1D","c.1976+15C>G","NM_001130413.3",null,null,"Intron","rs586965",100,{"$nulls":6},"C",0.4958,"G",0.5042]
["02160816100201_XZ",1226757,1,"G","AA",118,"62;55","0;0","0;1","0;0","0;0","0;0",0,0,0,0,903,"Nonsynonymous",null,"N/A","SCNN1D","c.2176G>A","NM_001130413.3","CDS18","p.G726S","Exon","rs6690013",99.15,0.1058,0.1311,0.0788,0.1688,0.1096,0.1478,"A",0.1096,"A",0.1096,{"$nulls":5},"T","B,P","B","P",-0.516,".","."]
["02160816100201_XZ",1226889,1,"G","AA",162,"86;76","0;0","0;0","0;0","0;0","0;0",0,0,0,0,922,"Nonsynonymous",null,"N/A","SCNN1D","c.2308G>A","NM_001130413.3","CDS18","p.G770R","Exon","rs609805",100,0.1035,0.1329,0.0744,0.1697,0.1098,0.1478,"A",0.1098,"A",0.1098,{"$nulls":5},"T","B","B","P",-0.35,".","."]
["02160816100201_XZ",1227249,1,"T","CC",231,"0;1","131;99","0;0","0;0","0;0","0;0",0,0,0,0,348,"Unknown",null,"N/A","SCNN1D","c.*259T>C","NM_001130413.3",null,null,"Intron","rs621668",99.57,{"$nulls":6},"C",0.1148,"C",0.1148]
["02160816100201_XZ",1271175,1,"A","AG",63,"14;25","0;0","9;15","0;0","0;0","0;0",0,1,0,0,1256,"Unknown",null,"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)","DVL1","c.*347T>C","NM_004421.2",null,null,"Intron","rs307373",38.1,{"$nulls":8},"C"]
["02160816100201_XZ",1271942,1,"C","CT",82,"0;0","14;25","0;0","18;25","0;0","0;0",0,1,0,0,591,"Unknown",null,"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)","DVL1","c.1640-47G>A","NM_004421.2",null,null,"Intron","rs111315662",52.44,{"$nulls":8},"A"]
["02160816100201_XZ",1273622,1,"G","CG",48,"0;0","10;0","10;28","0;0","0;0","0;0",0,1,0,0,3118,"Unknown",null,"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)","DVL1","c.1432+27C>G","NM_004421.2",null,null,"Intron","rs200411366",20.83,{"$nulls":8},"G"]
["02160816100201_XZ",1275716,1,"T","AT",321,"76;84","0;0","2;1","84;74","0;0","0;0",0,0,0,0,613,"Unknown",null,"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)","DVL1","c.700-20A>T","NM_004421.2",null,null,"Intron","rs112871502",49.84,{"$nulls":8},"T"]
["02160816100201_XZ",1275739,1,"C","CT",292,"0;0","72;72","1;0","61;86","0;0","0;0",0,1,0,0,135,"Unknown",null,"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)","DVL1","c.700-43G>A","NM_004421.2",null,null,"Intron","rs200442324",50.34,{"$nulls":8},"A"]
["02160816100201_XZ",1277533,1,"T","CC",126,"0;0","62;64","0;0","0;0","0;0","0;0",0,1,0,0,3676,"Synonymous",null,"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)","DVL1","c.366A>G","NM_004421.2","CDS4","p.P122P","Exon","rs307362",100,{"$nulls":8},"G"]
["02160816100201_XZ",2160153,1,"G","delG",5,"0;0","0;0","1;0","0;0","0;0","4;0",1,1,0,0,11,"Unknown","AD","SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYN... (OMIM:182212)","SKI","c.-47delG","NM_003036.3",null,null,"Intron","rs892329453",80,{"$nulls":8},"delG"]
["02160816100201_XZ",2240006,1,"T","CT",143,"0;1","41;35","0;0","28;37","0;0","1;0",0,0,0,0,2175,"Unknown","AD","SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYN... (OMIM:182212)","SKI","c.*1802T>C","NM_003036.3",null,null,"Intron","rs2173049",53.15,{"$nulls":6},"T",0.1899,"C",0.8101]
["02160816100201_XZ",2240506,1,"C","CT",197,"0;0","41;52","0;0","44;60","0;0","0;0",0,0,0,0,355,"Unknown","AD","SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYN... (OMIM:182212)","SKI","c.*2302C>T","NM_003036.3",null,null,"Intron","rs117433242",52.79,{"$nulls":6},"T",0.01797,"T",0.01797]
["02160816100201_XZ",2241377,1,"T","insT",40,"0;0","0;0","1;0","18;17","8;6","2;2",0,0,1,0,2112,"Unknown","AD","SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYN... (OMIM:182212)","SKI","c.*3182_*3183insT","NM_003036.3",null,null,"Intron","rs112413214,rs35148324",35,{"$nulls":8},"insT"]
["02160816100201_XZ",2985885,1,"C","GG",22,"0;0","0;0","5;17","0;0","0;0","0;0",0,0,0,0,5144,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.37+25C>G","NM_022114.3",null,null,"Intron","rs7413494",100,{"$nulls":6},"G",0.3602,"G",0.3602]
["02160816100201_XZ",3102822,1,"C","CT",286,"0;0","83;76","0;0","75;52","0;0","0;0",0,0,0,0,2,"Synonymous","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.171C>T","NM_022114.3","CDS2","p.S57S","Exon","rs369648897",44.41,{"$nulls":8},"T"]
["02160816100201_XZ",3328358,1,"T","CC",413,"0;0","229;182","0;0","2;0","0;0","0;0",0,0,0,0,7433,"Nonsynonymous","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.1597T>C","NM_022114.3","CDS9","p.S533P","Exon","rs870124",99.52,0.9272,1,0.8896,0.9998,null,null,"T",0.05491,"C",0.9451,{"$nulls":5},"T","B","B","P",-0.172,".","."]
["02160816100201_XZ",3328659,1,"C","CT",588,"0;0","127;167","1;0","120;173","0;0","0;0",0,0,0,0,335,"Nonsynonymous","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.1898C>T","NM_022114.3","CDS9","p.P633L","Exon","rs2493292",49.83,0.1108,0.007,0.1263,0.0108,0.106,0.006,"T",0.106,"T",0.106,{"$nulls":5},"D","B","B","P",0.603,".","."]
["02160816100201_XZ",3329384,1,"C","CT",128,"0;0","23;53","0;0","19;33","0;0","0;0",0,0,0,0,322,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.2603+20C>T","NM_022114.3",null,null,"Intron","rs2493291",40.63,{"$nulls":4},0.107,0.006,"T",0.107,"T",0.107]
["02160816100201_XZ",3342109,1,"G","GT",155,"0;0","0;0","55;22","45;33","0;0","0;0",0,0,0,0,481,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.2940-36G>T","NM_022114.3",null,null,"Intron","rs41303861",50.32,{"$nulls":6},"T",0.1174,"T",0.1174]
["02160816100201_XZ",3352175,1,"G","AG",127,"31;22","0;0","45;29","0;0","0;0","0;0",0,0,0,0,82,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*1800G>A","NM_022114.3",null,null,"Intron","rs79408112",41.73,{"$nulls":6},"A",0.03235,"A",0.03235]
["02160816100201_XZ",3352227,1,"T","CC",182,"0;0","110;70","0;0","0;0","0;2","1;1",0,0,0,0,1272,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*1852T>C","NM_022114.3",null,null,"Intron","rs1537406",98.9,{"$nulls":6},"T",0.111,"C",0.889]
["02160816100201_XZ",3352347,1,"T","CC",249,"1;0","128;118","0;0","2;0","0;0","0;0",0,0,0,0,1559,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*1972T>C","NM_022114.3",null,null,"Intron","rs1537405",98.8,{"$nulls":6},"T",0.1176,"C",0.8824]
["02160816100201_XZ",3352503,1,"G","CC",253,"0;1","110;140","0;0","0;0","0;0","0;2",0,0,0,0,1356,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*2128G>C","NM_022114.3",null,null,"Intron","rs1537404",98.81,{"$nulls":6},"G",0.1126,"C",0.8874]
["02160816100201_XZ",3352541,1,"T","CC",243,"0;1","108;133","1;0","0;0","0;0","0;0",0,0,0,0,1229,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*2166T>C","NM_022114.3",null,null,"Intron","rs1065247",99.18,{"$nulls":6},"T",0.256,"C",0.744]
["02160816100201_XZ",3352579,1,"T","CC",230,"1;0","97;131","0;0","0;0","0;0","0;1",0,0,0,0,1213,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*2204T>C","NM_022114.3",null,null,"Intron","rs1537402",99.13,{"$nulls":6},"T",0.1134,"C",0.8866]
["02160816100201_XZ",3352764,1,"T","delT",128,"0;0","0;0","0;0","16;12","0;0","57;43",0,0,0,0,1103,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*2400delT","NM_022114.3",null,null,"Intron","rs35439737,rs369442219,rs558204454,rs773985050,rs796233383",78.13,{"$nulls":8},"delT"]
["02160816100201_XZ",3352784,1,"A","GG",155,"0;0","0;0","83;72","0;0","0;0","0;0",0,0,0,0,1303,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*2409A>G","NM_022114.3",null,null,"Intron","rs2493267",100,{"$nulls":6},"A",0.1146,"G",0.8854]
["02160816100201_XZ",3352862,1,"A","AG",381,"113;76","0;1","119;70","0;1","0;0","0;1",0,0,0,1,233,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*2487A>G","NM_022114.3",null,null,"Intron","rs2493266",49.61,{"$nulls":6},"G",0.1058,"G",0.1058]
["02160816100201_XZ",3352865,1,"C","CT",385,"0;0","122;72","0;0","112;79","0;0","0;0",0,0,0,1,41,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*2490C>T","NM_022114.3",null,null,"Intron","rs35015571",49.61,{"$nulls":6},"T",0.05192,"T",0.05192]
["02160816100201_XZ",3352872,1,"A","AC",403,"117;83","125;76","1;0","0;0","0;0","0;1",0,0,0,1,1177,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*2497A>C","NM_022114.3",null,null,"Intron","rs2236518",49.88,{"$nulls":6},"C",0.4617,"C",0.4617]
["02160816100201_XZ",3353890,1,"A","GG",450,"2;6","0;1","218;223","0;0","0;0","0;0",0,0,0,0,2410,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*3515A>G","NM_022114.3",null,null,"Intron","rs2493265",98,{"$nulls":6},"A",0.09724,"G",0.9028]
["02160816100201_XZ",3353949,1,"A","GG",495,"0;0","0;1","249;243","0;1","0;0","0;1",0,0,0,0,2692,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*3574A>G","NM_022114.3",null,null,"Intron","rs2493264",99.39,{"$nulls":6},"A",0.09724,"G",0.9028]
["02160816100201_XZ",3354595,1,"T","CC",57,"2;0","16;37","1;0","0;1","0;0","0;0",0,0,0,0,1138,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*4220T>C","NM_022114.3",null,null,"Intron","rs2483249",92.98,{"$nulls":6},"T",0.1024,"C",0.8976]
["02160816100201_XZ",3354615,1,"T","CC",44,"0;0","14;29","0;0","0;0","0;0","1;0",0,0,0,0,1226,"Unknown","1.AD/2.AD","LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)","PRDM16","c.*4240T>C","NM_022114.3",null,null,"Intron","rs2493263",97.73,{"$nulls":6},"T",0.1186,"C",0.8814]
["02160816100201_XZ",6052581,1,"G","AA",197,"119;78","0;0","0;0","0;0","0;0","0;0",0,1,0,0,138,"Unknown","1.AR/2.AR","SENIOR-LOKEN SYNDROME 4 (OMIM:606996), NEPHRONOPHTHISIS 4 (OMIM:606966)","NPHP4","c.-268-48C>T","NM_015102.3",null,null,"Intron","rs806109",100,{"$nulls":8},"T"]
["02160816100201_XZ",6094594,1,"T","GG",264,"0;0","0;0","114;147","2;1","0;0","0;0",0,0,0,0,2113,"Unknown",null,"N/A","KCNAB2","c.-289-11387T>G","NM_001199862.1",null,null,"Intron","rs1295095",98.86,{"$nulls":6},"T",0.02796,"G",0.972]
["02160816100201_XZ",6094800,1,"G","AA",150,"65;83","1;1","0;0","0;0","0;0","0;0",0,0,0,0,2238,"Unknown",null,"N/A","KCNAB2","c.-289-11181G>A","NM_001199862.1",null,null,"Intron","rs12076209",98.67,{"$nulls":6},"G",0.4609,"A",0.5391]
["02160816100201_XZ",6149053,1,"C","TT",261,"0;0","0;0","0;0","144;117","0;0","0;0",0,0,0,0,2617,"Unknown",null,"N/A","KCNAB2","c.471-15C>T","NM_001199862.1",null,null,"Intron","rs2273043",100,{"$nulls":4},0.0972,0.2133,"T",0.09724,"T",0.09724]
["02160816100201_XZ",6149122,1,"G","AA",240,"106;132","0;1","1;0","0;0","0;0","0;0",0,0,0,0,2637,"Unknown",null,"N/A","KCNAB2","c.514+11G>A","NM_001199862.1",null,null,"Intron","rs2273042",99.17,{"$nulls":4},0.097,0.2133,"A",0.09704,"A",0.09704]
["02160816100201_XZ",6154417,1,"C","CT",202,"0;0","66;35","1;0","58;42","0;0","0;0",0,0,0,0,4443,"Unknown",null,"N/A","KCNAB2","c.647-43C>T","NM_001199862.1",null,null,"Intron","rs2294932",49.5,{"$nulls":4},0.231,0.3899,"T",0.231,"T",0.231]
["02160816100201_XZ",6157297,1,"T","CT",136,"0;0","35;31","0;0","43;27","0;0","0;0",0,0,0,0,2628,"Unknown",null,"N/A","KCNAB2","c.1070-32T>C","NM_001199862.1",null,null,"Intron","rs749435",48.53,{"$nulls":4},0.1024,0.2063,"C",0.1024,"C",0.1024]
["02160816100201_XZ",6158562,1,"A","AG",360,"111;88","0;4","77;79","0;1","0;0","0;0",0,0,0,0,4743,"Synonymous",null,"N/A","KCNAB2","c.1176A>G","NM_001199862.1","CDS15","p.S392S","Exon","rs2229002",43.33,{"$nulls":4},0.5439,0.4018,"A",0.4561,"G",0.5439]
["02160816100201_XZ",6158995,1,"G","AG",441,"98;130","0;1","82;130","0;0","0;0","0;0",0,0,0,0,1391,"Unknown",null,"N/A","KCNAB2","c.*361G>A","NM_001199862.1",null,null,"Intron","rs11542389",51.7,{"$nulls":6},"A",0.1294,"A",0.1294]
["02160816100201_XZ",6159032,1,"A","GG",345,"0;0","1;0","128;216","0;0","0;0","0;0",0,0,0,0,2218,"Unknown",null,"N/A","KCNAB2","c.*398A>G","NM_001199862.1",null,null,"Intron","rs4908772",99.71,{"$nulls":6},"A",0.3167,"G",0.6833]
["02160816100201_XZ",6160115,1,"G","AG",278,"51;72","0;1","68;86","0;0","0;0","0;0",0,0,0,0,2733,"Unknown",null,"N/A","KCNAB2","c.*1481G>A","NM_001199862.1",null,null,"Intron","rs34324678",44.24,{"$nulls":4},0.1294,0.3562,"A",0.1294,"A",0.1294]
["02160816100201_XZ",6160563,1,"A","GG",105,"0;0","0;1","53;51","0;0","0;0","0;0",0,0,0,0,2246,"Unknown",null,"N/A","KCNAB2","c.*1929A>G","NM_001199862.1",null,null,"Intron","rs9434641",99.05,{"$nulls":6},"A",0.1939,"G",0.8061]
["02160816100201_XZ",6160609,1,"C","CT",118,"0;0","24;20","0;0","44;30","0;0","0;0",0,0,0,0,1024,"Unknown",null,"N/A","KCNAB2","c.*1975C>T","NM_001199862.1",null,null,"Intron","rs3789528",62.71,{"$nulls":6},"T",0.1296,"T",0.1296]
["02160816100201_XZ",6160693,1,"C","insC",201,"0;0","122;79","0;0","0;0","111;60","0;0",0,0,0,1,1952,"Unknown",null,"N/A","KCNAB2","c.*2063_*2064insC","NM_001199862.1",null,null,"Intron","rs397777072,rs60141764",85.07,{"$nulls":8},"insC"]
["02160816100201_XZ",6160698,1,"A","GG",206,"0;0","5;6","123;72","0;0","0;0","0;0",0,0,0,1,2020,"Unknown",null,"N/A","KCNAB2","c.*2064A>G","NM_001199862.1",null,null,"Intron","rs11542388",94.66,{"$nulls":6},"A",0.1973,"G",0.8027]
["02160816100201_XZ",6160876,1,"A","GG",280,"0;0","0;0","130;150","0;0","0;0","0;0",0,0,0,0,1860,"Unknown",null,"N/A","KCNAB2","c.*2242A>G","NM_001199862.1",null,null,"Intron","rs1056860",100,{"$nulls":6},"A",0.2085,"G",0.7915]
["02160816100201_XZ",6160958,1,"A","GG",216,"0;0","0;0","88;127","0;1","0;0","0;0",0,0,0,0,1876,"Unknown",null,"N/A","KCNAB2","c.*2324A>G","NM_001199862.1",null,null,"Intron","rs538",99.54,{"$nulls":6},"A",0.2091,"G",0.7909]
["02160816100201_XZ",6161075,1,"T","AT",172,"43;41","0;0","0;0","37;51","0;0","0;0",0,0,0,0,983,"Unknown",null,"N/A","KCNAB2","c.*2441T>A","NM_001199862.1",null,null,"Intron","rs1056866",48.84,{"$nulls":6},"T",0.4688,"A",0.5312]
["02160816100201_XZ",6161092,1,"T","insT",167,"0;1","0;0","0;0","87;79","34;36","0;0",0,0,0,1,1336,"Unknown",null,"N/A","KCNAB2","c.*2466_*2467insT","NM_001199862.1",null,null,"Intron","rs75384095",41.92,{"$nulls":8},"insT"]
["02160816100201_XZ",6161101,1,"A","insA",171,"90;77","0;0","1;0","3;0","40;35","0;0",0,0,0,1,966,"Unknown",null,"N/A","KCNAB2","c.*2469_*2470insA","NM_001199862.1",null,null,"Intron","rs397825448,rs55935809",43.86,{"$nulls":8},"insA"]
["02160816100201_XZ",6161277,1,"A","AG",217,"47;74","0;0","36;60","0;0","0;0","0;0",0,0,0,0,1091,"Unknown",null,"N/A","N/A","c.*1931+570A>G",{"$nulls":3},"Intron","rs12045342",44.24,{"$nulls":6},"G",0.1376,"G",0.1376]
["02160816100201_XZ",6269120,1,"T","GT",42,"0;0","0;0","0;12","29;1","0;0","0;0",0,1,0,0,2145,"Unknown",null,"N/A","RNF207","c.469+35T>G","NM_207396.2",null,null,"Intron","rs775528020",28.57,{"$nulls":8},"G"]
["02160816100201_XZ",6269340,1,"A","AG",54,"15;14","0;0","14;11","0;0","0;0","0;0",0,0,0,0,351,"Synonymous",null,"N/A","RNF207","c.564A>G","NM_207396.2","CDS5","p.A188A","Exon","rs4908865",46.3,{"$nulls":4},0.144,0.0813,"G",0.144,"G",0.144]
["02160816100201_XZ",6272137,1,"A","AG",195,"73;39","0;0","52;26","0;1","0;0","1;3",0,0,0,0,1046,"Unknown",null,"N/A","RNF207","c.1296+24A>G","NM_207396.2",null,null,"Intron","rs709208",40,{"$nulls":6},"G",0.3277,"G",0.3277]
["02160816100201_XZ",6278414,1,"A","AG",229,"48;53","0;0","62;66","0;0","0;0","0;0",0,0,0,0,1330,"Nonsynonymous",null,"N/A","RNF207","c.1718A>G","NM_207396.2","CDS16","p.N573S","Exon","rs709209",55.9,0.3956,0.2675,0.3607,0.2576,0.4371,0.2639,"G",0.4371,"G",0.4371,{"$nulls":5},"T","B","B","P",-0.213,".","."]
["02160816100201_XZ",6279616,1,"A","AG",16,"0;10","0;0","0;6","0;0","0;0","0;0",0,1,0,0,94,"Unknown",null,"N/A","RNF207","c.*149A>G","NM_207396.2",null,null,"Intron","rs11121500",37.5,{"$nulls":6},"G",0.2406,"G",0.2406]
["02160816100201_XZ",7907621,1,"T","insTAAT",41,"0;0","0;0","0;0","26;15","9;8","0;0",0,0,0,0,584,"Unknown",null,"N/A","N/A","c.*154+45_*154+46insATTA",{"$nulls":3},"Intron","rs143440682,rs2307550",41.46,{"$nulls":8},"insATTA"]
["02160816100201_XZ",7907971,1,"C","AC",66,"5;12","17;25","0;0","0;0","0;0","3;4",0,1,1,0,4579,"Unknown","N/A","N/A","UTS2","c.304-29G>T","NM_021995.2",null,null,"Intron","rs707473",25.76,{"$nulls":8},"T"]
["02160816100201_XZ",7913430,1,"G","AG",147,"30;35","0;0","41;41","0;0","0;0","0;0",0,1,0,0,3733,"Nonsynonymous","N/A","N/A","UTS2","c.62C>T","NM_021995.2","CDS1","p.T21M","Exon","rs228648",44.22,0.4592,0.3234,0.5228,0.3526,{"$nulls":4},"T",null,"CM078165","NM_021995.2:c.62C-T","missense/nonsense","DP","Diabetes,type 2, association with","D","B","B","P",0.655,".","."]
["02160816100201_XZ",8926286,1,"G","insG",34,"0;0","0;0","29;5","0;0","12;3","0;0",0,0,0,0,2167,"Unknown","N/A","N/A","ENO1","c.667+52_667+53insC","NM_001428.3",null,null,"Intron","rs3831913",44.12,{"$nulls":8},"insC"]
["02160816100201_XZ",8928125,1,"G","GT",198,"0;0","0;0","37;58","45;58","0;0","0;0",0,1,0,0,6274,"Unknown","N/A","N/A","ENO1","c.241-9C>A","NM_001428.3",null,null,"Intron","rs2071412",52.02,{"$nulls":8},"A"]
["02160816100201_XZ",8931149,1,"C","CT",649,"2;0","164;159","0;0","171;152","1;0","1;0",0,1,0,0,1303,"Unknown","N/A","N/A","ENO1","c.182-580G>A","NM_001428.3",null,null,"Intron","rs2274971",49.77,{"$nulls":8},"A"]
["02160816100201_XZ",8931463,1,"T","CC",326,"0;0","158;163","0;0","1;4","1;0","0;0",0,1,0,0,1021,"Unknown","N/A","N/A","ENO1","c.181+487A>G","NM_001428.3",null,null,"Intron","rs1006950",98.47,{"$nulls":8},"G"]
["02160816100201_XZ",10043714,1,"A","insA,delA",59,"23;23","0;0","0;0","0;0","9;5","6;7",0,0,1,0,1,"Unknown","AR","LEBER CONGENITAL AMAUROSIS 9 (OMIM:608553)","NMNAT1","c.*954_*955insA,c.*955delA","NM_022787.3",null,null,"Intron","rs113606279","23.73,22.03",{"$nulls":8},"delA"]
["02160816100201_XZ",10043822,1,"G","GT",124,"0;1","0;1","40;26","30;26","0;0","0;0",0,0,0,0,516,"Unknown","AR","LEBER CONGENITAL AMAUROSIS 9 (OMIM:608553)","NMNAT1","c.*1063G>T","NM_022787.3",null,null,"Intron","rs77800690",45.16,{"$nulls":6},"T",0.04333,"T",0.04333]
["02160816100201_XZ",10045152,1,"C","GG",165,"0;0","1;0","68;96","0;0","0;0","0;0",0,0,0,0,3354,"Unknown","AR","LEBER CONGENITAL AMAUROSIS 9 (OMIM:608553)","NMNAT1","c.*2393C>G","NM_022787.3",null,null,"Intron","rs4073852",99.39,{"$nulls":4},0.7206,0.8413,"C",0.2794,"G",0.7206]
["02160816100201_XZ",10270716,1,"C","delCC",8,"0;0","2;3","0;0","0;0","0;0","3;0",1,1,0,0,18,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.-252-47_-252-46delCC","NM_015074.3",null,null,"Intron","rs140167753",37.5,{"$nulls":8},"delCC"]
["02160816100201_XZ",10270717,1,"C","-",8,"0;0","2;2","0;1","0;0","0;0","3;0",1,1,0,0,14,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","-","NM_015074.3",null,null,"Intron",null,37.5,{"$nulls":8},"-"]
["02160816100201_XZ",10318652,1,"C","CG",88,"0;0","30;24","18;16","0;0","0;0","0;0",0,0,0,0,3948,"Synonymous",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.285C>G","NM_015074.3","CDS3","p.A95A","Exon","rs12402052",38.64,{"$nulls":6},"G",0.23,"G",0.23]
["02160816100201_XZ",10322054,1,"G","AG",114,"18;35","0;0","29;32","0;0","0;0","0;0",0,0,0,0,4978,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.429+26G>A","NM_015074.3",null,null,"Intron","rs4846209",46.49,{"$nulls":4},0.3399,0.3472,"A",0.3399,"A",0.3399]
["02160816100201_XZ",10327407,1,"A","AT",104,"28;11","0;0","0;2","41;22","0;0","0;0",0,0,0,0,5107,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.430-31A>T","NM_015074.3",null,null,"Intron","rs12141246",60.58,{"$nulls":6},"T",0.3806,"T",0.3806]
["02160816100201_XZ",10328338,1,"C","CT",210,"0;0","34;61","0;0","41;74","0;0","0;0",0,0,0,0,3848,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.720+17C>T","NM_015074.3",null,null,"Intron","rs1339458",54.76,{"$nulls":6},"T",0.254,"T",0.254]
["02160816100201_XZ",10342629,1,"G","AG",75,"6;22","0;0","12;34","0;0","0;0","1;0",0,0,0,0,6382,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.1296+38G>A","NM_015074.3",null,null,"Intron","rs3748576",37.33,{"$nulls":4},0.7127,0.503,"G",0.2873,"A",0.7127]
["02160816100201_XZ",10355834,1,"C","CT",86,"0;0","15;36","0;0","13;22","0;0","0;0",0,0,0,0,3944,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.1639+10C>T","NM_015074.3",null,null,"Intron","rs3753037",40.7,{"$nulls":4},0.264,0.2887,"T",0.264,"T",0.264]
["02160816100201_XZ",10357207,1,"T","insT",38,"0;0","0;0","0;0","15;18","2;6","4;1",0,1,1,0,758,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.1905-9_1905-8insT","NM_015074.3",null,null,"Intron","rs58344165,rs757877939",21.05,{"$nulls":8},"insT"]
["02160816100201_XZ",10366487,1,"T","GT",94,"0;0","0;0","20;36","14;24","0;0","0;0",0,0,0,0,1152,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.1977+9183T>G","NM_015074.3",null,null,"Intron","rs8019",59.57,{"$nulls":6},"G",0.3838,"G",0.3838]
["02160816100201_XZ",10366692,1,"C","CG",165,"0;1","45;62","21;36","0;0","0;0","0;0",0,0,0,0,1164,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.1977+9388C>G","NM_015074.3",null,null,"Intron","rs4623",34.55,{"$nulls":6},"G",0.3343,"G",0.3343]
["02160816100201_XZ",10367424,1,"G","AG",20,"4;8","0;0","3;5","0;0","0;0","0;0",0,0,0,0,842,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.1977+10120G>A","NM_015074.3",null,null,"Intron","rs2004034",60,{"$nulls":6},"A",0.2316,"A",0.2316]
["02160816100201_XZ",10386367,1,"C","CT",525,"0;1","111;142","1;0","125;145","0;0","0;0",0,0,0,0,284,"Synonymous",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.2736C>T","NM_015074.3","CDS24","p.D912D","Exon","rs150831576",51.43,{"$nulls":4},0.0022,0.0109,"T",2.196E-3,"T",2.196E-3]
["02160816100201_XZ",10394536,1,"C","CG",207,"0;0","62;40","64;41","0;0","0;0","0;0",0,0,0,0,4968,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.2787-42C>G","NM_015074.3",null,null,"Intron","rs2276100",50.72,{"$nulls":4},0.3339,0.3462,"G",0.3339,"G",0.3339]
["02160816100201_XZ",10420937,1,"C","CT",248,"0;0","102;44","0;0","73;29","0;0","0;0",0,0,0,0,4969,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.3918-50C>T","NM_015074.3",null,null,"Intron","rs3748579",41.13,{"$nulls":4},0.3341,0.3462,"T",0.3341,"T",0.3341]
["02160816100201_XZ",10425118,1,"T","delT",36,"0;0","0;0","0;0","16;7","0;0","7;6",0,0,0,0,4995,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.4229-33delT","NM_015074.3",null,null,"Intron","rs34161257,rs398049111,rs777133459",36.11,{"$nulls":8},"delT"]
["02160816100201_XZ",10431158,1,"T","CT",153,"0;0","60;22","0;0","48;23","0;0","0;0",0,0,0,0,3765,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.4687-41T>C","NM_015074.3",null,null,"Intron","rs17411502",53.59,{"$nulls":4},0.249,0.2817,"C",0.249,"C",0.249]
["02160816100201_XZ",10435324,1,"C","AC",233,"56;45","61;70","0;1","0;0","0;0","0;0",0,0,0,0,3866,"Synonymous",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.5163C>A","NM_015074.3","CDS45","p.T1721T","Exon","rs11121552",43.35,{"$nulls":4},0.2316,0.2827,"A",0.2316,"A",0.2316]
["02160816100201_XZ",10438687,1,"C","CT",298,"0;0","67;83","0;0","57;91","3;0","0;0",0,0,0,0,1206,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.*2042C>T","NM_015074.3",null,null,"Intron","rs1536262",49.66,{"$nulls":6},"C",0.4535,"T",0.5465]
["02160816100201_XZ",10438892,1,"G","AG",92,"10;25","0;0","15;42","0;0","0;0","0;0",0,0,0,0,1168,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.*2247G>A","NM_015074.3",null,null,"Intron","rs1002076",38.04,{"$nulls":6},"A",0.3337,"A",0.3337]
["02160816100201_XZ",10440556,1,"A","AG",50,"4;20","0;0","5;21","0;0","0;0","0;0",0,0,0,0,1144,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.*3911A>G","NM_015074.3",null,null,"Intron","rs1138791",52,{"$nulls":6},"G",0.3488,"G",0.3488]
["02160816100201_XZ",10440615,1,"G","GT",25,"0;0","0;0","12;5","1;7","0;0","0;0",0,1,0,0,26,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.*3970G>T","NM_015074.3",null,null,"Intron",null,32,{"$nulls":8},"T"]
["02160816100201_XZ",10441664,1,"T","CT",121,"0;0","21;34","0;0","21;45","0;0","0;0",0,0,0,0,75,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:118210), PHEOCHROMOCYTOMA (OMIM:171300)","KIF1B","c.*5016+3T>C","NM_015074.3",null,null,"Intron","rs3748581",45.45,{"$nulls":6},"T",0.473,"C",0.527]
["02160816100201_XZ",10696707,1,"T","AT",11,"0;3","0;0","0;0","8;0","0;0","0;0",0,1,0,1,1,"Unknown",null,"N/A","CASZ1","c.*2292A>T","NM_001079843.2",null,null,"Intron",null,27.27,{"$nulls":8},"T"]
["02160816100201_XZ",10696709,1,"A","AG",12,"8;0","0;0","0;3","0;1","0;0","0;0",0,1,0,1,1,"Unknown",null,"N/A","CASZ1","c.*2290T>C","NM_001079843.2",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",10696712,1,"C","CT",12,"0;0","8;1","0;0","0;3","0;0","0;0",0,1,0,1,1,"Unknown",null,"N/A","CASZ1","c.*2287G>A","NM_001079843.2",null,null,"Intron",null,25,{"$nulls":8},"A"]
["02160816100201_XZ",10696713,1,"A","delAA",12,"6;0","0;0","0;1","0;0","0;0","2;3",0,0,0,1,47,"Unknown",null,"N/A","CASZ1","c.*2285_*2286delTT","NM_001079843.2",null,null,"Intron","rs59054467",41.67,{"$nulls":8},"delTT"]
["02160816100201_XZ",10696714,1,"A","-",12,"7;1","0;0","0;0","0;0","0;0","1;3",0,0,0,1,49,"Unknown",null,"N/A","CASZ1","-","NM_001079843.2",null,null,"Intron","rs548562440,rs754937721",33.33,{"$nulls":8},"-"]
["02160816100201_XZ",10696716,1,"A","AC",15,"10;1","0;4","0;0","0;0","0;0","0;0",0,1,0,1,1,"Unknown",null,"N/A","CASZ1","c.*2283T>G","NM_001079843.2",null,null,"Intron",null,26.67,{"$nulls":8},"G"]
["02160816100201_XZ",10713765,1,"T","CT",116,"0;0","37;36","1;0","30;12","0;0","0;0",0,1,0,0,1544,"Synonymous",null,"N/A","CASZ1","c.2349A>G","NM_001079843.2","CDS8","p.S783S","Exon","rs284294",62.93,{"$nulls":8},"G"]
["02160816100201_XZ",11846093,1,"T","insT",15,"0;0","0;0","0;0","11;4","8;4","0;0",0,0,0,0,137,"Unknown",null,"N/A","C1orf167","c.3567+757_3567+758insT","XM_003118845.3",null,null,"Intron","rs55740775",80,{"$nulls":8},"insT"]
["02160816100201_XZ",11846252,1,"G","AA",204,"121;79","0;0","3;0","0;0","0;0","1;0",0,0,0,0,137,"Unknown",null,"N/A","C1orf167","c.3567+906G>A","XM_003118845.3",null,null,"Intron","rs4846048",98.04,{"$nulls":6},"G",0.2935,"A",0.7065]
["02160816100201_XZ",11846447,1,"G","AA",68,"19;47","0;0","2;0","0;0","0;0","0;0",0,0,0,0,138,"Unknown",null,"N/A","C1orf167","c.3568-998G>A","XM_003118845.3",null,null,"Intron","rs4845884",97.06,{"$nulls":6},"G",0.06669,"A",0.9333]
["02160816100201_XZ",11846742,1,"C","CT",13,"0;0","4;0","0;0","7;2","0;0","0;0",0,1,0,0,20,"Unknown",null,"N/A","C1orf167","c.3568-703C>T","XM_003118845.3",null,null,"Intron","rs2184227",69.23,{"$nulls":6},"T",0.1178,"T",0.1178]
["02160816100201_XZ",11847335,1,"G","insGAA",303,"0;0","0;1","155;146","0;1","73;49","0;0",0,1,0,0,134,"Unknown",null,"N/A","C1orf167","c.3568-106_3568-105insAGA","XM_003118845.3",null,null,"Intron","rs113394969,rs35134728,rs70983598,rs72505075",40.26,{"$nulls":8},"insAGA"]
["02160816100201_XZ",11847449,1,"G","AG",375,"103;70","0;0","118;83","1;0","0;0","0;0",0,0,0,0,143,"Nonsynonymous",null,"N/A","C1orf167","c.3572G>A","XM_003118845.3","CDS16","p.R1191H","Exon","rs3737967",46.13,0.0508,0.0979,0.0581,0.1545,0.0743,0.1171,"A",0.07428,"A",0.07428,{"$nulls":5},".,D",".,B",".,B","P",-0.182,".","."]
["02160816100201_XZ",11847759,1,"C","CT",490,"2;1","132;123","2;0","117;113","0;0","0;0",0,0,0,0,135,"Unknown",null,"N/A","C1orf167","c.3674-171C>T","XM_003118845.3",null,null,"Intron","rs3737966",46.94,{"$nulls":6},"C",0.4415,"T",0.5585]
["02160816100201_XZ",11847772,1,"G","GT",521,"0;0","1;1","137;116","142;124","0;0","0;0",0,0,0,0,20,"Unknown",null,"N/A","C1orf167","c.3674-158G>T","XM_003118845.3",null,null,"Intron","rs3820192",51.06,{"$nulls":6},"T",0.1124,"T",0.1124]
["02160816100201_XZ",11847861,1,"G","AG",565,"146;130","0;2","151;134","0;0","0;0","0;2",0,0,0,0,139,"Unknown",null,"N/A","C1orf167","c.3674-69G>A","XM_003118845.3",null,null,"Intron","rs1537516",48.85,{"$nulls":6},"A",0.1114,"A",0.1114]
["02160816100201_XZ",11847902,1,"C","AC",513,"132;123","131;126","1;0","0;0","0;0","0;0",0,0,0,0,142,"Unknown",null,"N/A","C1orf167","c.3674-28C>A","XM_003118845.3",null,null,"Intron","rs1537515",49.71,{"$nulls":4},0.111,0.119,"A",0.111,"A",0.111]
["02160816100201_XZ",11848068,1,"G","CG",561,"0;0","132;127","156;146","0;0","0;0","0;0",0,0,0,0,143,"Nonsynonymous",null,"N/A","C1orf167","c.3812G>C","XM_003118845.3","CDS17","p.C1271S","Exon","rs1537514",46.17,0.0902,0.0997,0.0948,0.1494,0.1176,0.119,"C",0.1176,"C",0.1176,{"$nulls":5},".,D",".,B",".,B","P",-0.28,".","."]
["02160816100201_XZ",11848879,1,"A","GG",235,"0;0","0;0","78;157","0;0","0;0","0;0",0,0,0,0,1155,"Unknown",null,"N/A","C1orf167","c.4173+76A>G","XM_003118845.3",null,null,"Intron","rs2077360",100,{"$nulls":6},"A",0.06949,"G",0.9305]
["02160816100201_XZ",11848972,1,"G","AG",178,"56;44","0;0","42;35","0;1","3;0","0;0",0,0,0,0,145,"Unknown",null,"N/A","C1orf167","c.4173+169G>A","XM_003118845.3",null,null,"Intron","rs72640221",56.18,{"$nulls":6},"A",0.1242,"A",0.1242]
["02160816100201_XZ",11849447,1,"A","GG",203,"0;0","0;0","78;124","0;0","0;0","1;0",0,0,0,0,1155,"Nonsynonymous",null,"N/A","C1orf167","c.4294A>G","XM_003118845.3","CDS20","p.R1432G","Exon","rs868014",99.51,0.9455,1,0.9757,1,0.9329,1,"A",0.06709,"G",0.9329,{"$nulls":5},".,T",".,B",".,B","P",-2.078,".","."]
["02160816100201_XZ",11850365,1,"T","GT",513,"3;0","0;0","127;145","118;120","0;0","0;0",0,1,0,0,2551,"regulatory",null,"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,... (OMIM:236250)","MTHFR","c.*372A>C","NM_005957.4",null,null,"Intron","rs4846049",53.02,{"$nulls":8},"C",null,"CR125703","null","regulatory","DFP","Coronaryheart disease, increased risk, association with"]
["02160816100201_XZ",11850927,1,"C","CT",396,"1;0","71;120","2;0","67;135","0;0","0;0",0,1,0,0,999,"Nonsynonymous",null,"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,... (OMIM:236250)","MTHFR","c.1781G>A","NM_005957.4","CDS11","p.R594Q","Exon","rs2274976",51.01,0.0513,0.0997,0.0562,0.1141,{"$nulls":4},"A",null,"CM056008","NM_005957.4:c.1781G-A","missense/nonsense","DP","Cleftlip and/or palate, increased risk","T","B","B","P",-0.415,".","."]
["02160816100201_XZ",11851003,1,"G","CG",163,"0;0","13;64","21;62","0;0","0;0","0;3",0,0,0,0,2318,"Unknown",null,"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,... (OMIM:236250)","MTHFR","c.1753-48C>G","NM_005957.4",null,null,"Intron","rs3818762",47.24,{"$nulls":8},"G"]
["02160816100201_XZ",11852300,1,"C","CT",296,"0;0","85;89","0;0","72;50","0;0","0;0",0,1,0,0,2424,"Unknown",null,"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,... (OMIM:236250)","MTHFR","c.1632+35G>A","NM_005957.4",null,null,"Intron","rs1476413",41.22,{"$nulls":8},"A"]
["02160816100201_XZ",11854457,1,"G","AA",354,"174;174","0;1","2;0","2;1","0;0","0;0",0,1,0,0,8533,"Synonymous",null,"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,... (OMIM:236250)","MTHFR","c.1305C>T","NM_005957.4","CDS7","p.F435F","Exon","rs4846051",98.31,{"$nulls":8},"T",null,"CM044675","NM_005957.4:c.1305T-C","missense/nonsense","DP","Preeclampsia,association with"]
["02160816100201_XZ",11854476,1,"T","GT",381,"0;0","0;0","92;90","102;97","0;0","0;0",0,1,0,0,2402,"Nonsynonymous",null,"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,... (OMIM:236250)","MTHFR","c.1286A>C","NM_005957.4","CDS7","p.E429A","Exon","rs1801131",47.77,0.2294,0.1906,0.2949,0.2148,{"$nulls":4},"C",null,"CM981315","NM_005957.4:c.1286A-C","missense/nonsense","DFP","Neuraltube defect, increased risk, association with","T","B,P","B","P",0.374,"Benign","MTHFR_deficiency\\x2c_thermolabile_type"]
["02160816100201_XZ",11854755,1,"G","AG",412,"100;73","0;0","148;91","0;0","0;0","0;0",0,1,0,0,7931,"Unknown",null,"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,... (OMIM:236250)","MTHFR","c.1166+31C>T","NM_005957.4",null,null,"Intron","rs1994798",41.99,{"$nulls":8},"T"]
["02160816100201_XZ",11854896,1,"G","AG",363,"57;118","0;0","81;107","0;0","0;0","0;0",0,1,0,0,939,"Synonymous",null,"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,... (OMIM:236250)","MTHFR","c.1056C>T","NM_005957.4","CDS6","p.S352S","Exon","rs2066462",48.21,{"$nulls":8},"T"]
["02160816100201_XZ",11856378,1,"G","AG",452,"130;90","0;2","120;109","0;1","0;0","0;0",0,1,0,0,6414,"Nonsynonymous",null,"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,... (OMIM:236250)","MTHFR","c.665C>T","NM_005957.4","CDS4","p.A222V","Exon","rs1801133",48.67,0.3242,0.3671,0.3036,0.3052,{"$nulls":4},"T",null,"CM950819","NM_005957.4:c.665C-T","missense/nonsense","DFP","Cardiovasculardisease, association with","D","D","D","P",0.655,"Benign","MTHFR_deficiency\\x2c_thermolabile_type"]
["02160816100201_XZ",11863022,1,"C","CT",399,"2;0","109;113","0;0","89;86","0;0","0;0",0,1,0,0,4,"Nonsynonymous",null,"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,... (OMIM:236250)","MTHFR","c.152G>A","NM_005957.4","CDS1","p.R51Q","Exon","rs201618781",43.86,0.0005,0,0,0.0003,{"$nulls":4},"A",null,"CM960994","NM_005957.4:c.152G-C","missense/nonsense","DM","Homocystinuria","T","D","D","D",0.549,".","."]
["02160816100201_XZ",11863057,1,"G","AG",379,"94;91","0;0","84;109","1;0","0;0","0;0",0,1,0,0,1034,"Synonymous",null,"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,... (OMIM:236250)","MTHFR","c.117C>T","NM_005957.4","CDS1","p.P39P","Exon","rs2066470",48.81,{"$nulls":8},"T"]
["02160816100201_XZ",11866451,1,"G","AG",24,"4;7","0;0","6;7","0;0","0;0","0;0",0,0,0,0,412,"Unknown",null,"N/A","CLCN6","c.87+45G>A","NM_001286.3",null,null,"Intron","rs3737965",45.83,{"$nulls":4},0.0647,0.122,"A",0.0647,"A",0.0647]
["02160816100201_XZ",11883731,1,"C","CT",309,"0;0","78;73","0;0","82;76","0;0","0;0",0,0,0,0,390,"Unknown",null,"N/A","CLCN6","c.454-33C>T","NM_001286.3",null,null,"Intron","rs12567136",51.13,{"$nulls":4},0.1294,0.125,"T",0.1294,"T",0.1294]
["02160816100201_XZ",11884555,1,"A","GG",312,"2;0","0;0","166;144","0;0","0;0","0;0",0,0,0,0,3286,"Nonsynonymous",null,"N/A","CLCN6","c.593A>G","NM_001286.3","CDS8","p.E198G","Exon","rs198400",99.36,0.9995,1,0.9994,1,0.9998,1,"A",1.997E-4,"G",0.9998,{"$nulls":5},"T","B","B","P",-0.215,".","."]
["02160816100201_XZ",11887303,1,"A","AG",381,"83;95","0;1","95;106","0;1","0;0","0;0",0,0,0,0,378,"Unknown",null,"N/A","CLCN6","c.840+25A>G","NM_001286.3",null,null,"Intron","rs7537765",52.76,{"$nulls":4},0.1613,0.128,"G",0.1613,"G",0.1613]
["02160816100201_XZ",11887316,1,"C","AC",372,"90;106","78;96","1;0","1;0","0;0","0;0",0,0,0,0,364,"Unknown",null,"N/A","CLCN6","c.840+38C>A","NM_001286.3",null,null,"Intron","rs41275478",52.69,{"$nulls":4},0.1074,0.123,"A",0.1074,"A",0.1074]
["02160816100201_XZ",11889225,1,"G","AG",243,"67;44","0;0","85;47","0;0","0;0","0;0",0,0,0,0,375,"Unknown",null,"N/A","CLCN6","c.1122-28G>A","NM_001286.3",null,null,"Intron","rs41275484",45.68,{"$nulls":4},0.0653,0.122,"A",0.0653,"A",0.0653]
["02160816100201_XZ",11897082,1,"C","CT",251,"0;0","76;57","1;0","56;61","0;0","0;0",0,0,0,0,402,"Synonymous",null,"N/A","CLCN6","c.2007C>T","NM_001286.3","CDS19","p.G669G","Exon","rs41275500",46.61,{"$nulls":4},0.0649,0.122,"T",0.0649,"T",0.0649]
["02160816100201_XZ",11897592,1,"A","AG",255,"38;73","0;1","45;98","0;0","0;0","0;0",0,0,0,0,891,"Unknown",null,"N/A","CLCN6","c.2295+36A>G","NM_001286.3",null,null,"Intron","rs198406",56.08,{"$nulls":4},0.4008,0.2312,"G",0.4008,"G",0.4008]
["02160816100201_XZ",11907648,1,"C","CT",537,"2;0","172;131","1;0","135;96","0;0","0;0",0,1,0,0,831,"Nonsynonymous","1.AD/2.AR","ATRIAL FIBRILLATION, FAMILIAL, 6 (OMIM:612201), ATRIAL STANDSTILL 2 (OMIM:615745)","NPPA","c.94G>A","NM_006172.3","CDS1","p.V32M","Exon","rs5063",43.02,0.0577,0.0892,0.0562,0.1135,{"$nulls":4},"A",null,"CM057551","NM_006172.3:c.94G-A","missense/nonsense","DP","Lowerdiastolic blood pressure, association with","T","P","B","D",-0.424,".","."]
["02160816100201_XZ",12009955,1,"C","CT",207,"0;0","43;59","0;0","43;62","0;0","0;0",0,0,0,0,4442,"Synonymous","AR","EHLERS-DANLOS SYNDROME, TYPE VI (OMIM:225400)","PLOD1","c.294C>T","NM_000302.3","CDS3","p.F98F","Exon","rs7529452",50.72,{"$nulls":4},0.2678,0.3631,"T",0.2678,"T",0.2678]
["02160816100201_XZ",12024235,1,"C","CT",163,"0;0","28;43","0;0","45;47","0;0","0;0",0,0,0,0,4662,"Synonymous","AR","EHLERS-DANLOS SYNDROME, TYPE VI (OMIM:225400)","PLOD1","c.1206C>T","NM_000302.3","CDS12","p.N402N","Exon","rs1130529",56.44,{"$nulls":4},0.3484,0.3839,"T",0.3484,"T",0.3484]
["02160816100201_XZ",12024374,1,"T","GT",61,"0;0","0;0","0;15","40;6","0;0","0;0",0,1,0,1,7436,"Unknown","AR","EHLERS-DANLOS SYNDROME, TYPE VI (OMIM:225400)","PLOD1","c.1328+17T>G","NM_000302.3",null,null,"Intron","rs750046838",24.59,{"$nulls":8},"G"]
["02160816100201_XZ",12024380,1,"T","GT",56,"0;0","0;0","0;13","40;3","0;0","0;0",0,1,0,1,7547,"Unknown","AR","EHLERS-DANLOS SYNDROME, TYPE VI (OMIM:225400)","PLOD1","c.1328+23T>G","NM_000302.3",null,null,"Intron","rs755368852",23.21,{"$nulls":8},"G"]
["02160816100201_XZ",12248942,1,"A","AG",223,"40;75","0;0","43;65","0;0","0;0","0;0",0,0,0,0,2699,"Synonymous","N/A","N/A","TNFRSF1B","c.168A>G","NM_001066.2","CDS2","p.K56K","Exon","rs945439",48.43,{"$nulls":4},0.1993,0.1548,"G",0.1993,"G",0.1993]
["02160816100201_XZ",12248965,1,"A","AG",170,"23;61","0;0","29;57","0;0","0;0","0;0",0,0,0,0,2622,"Unknown","N/A","N/A","TNFRSF1B","c.178+13A>G","NM_001066.2",null,null,"Intron","rs945438",50.59,{"$nulls":6},"G",0.1987,"G",0.1987]
["02160816100201_XZ",12251808,1,"T","GT",111,"0;1","0;0","40;20","31;19","0;0","0;0",0,0,0,0,4572,"Unknown","N/A","N/A","TNFRSF1B","c.308-23T>G","NM_001066.2",null,null,"Intron","rs653667",54.05,{"$nulls":6},"G",0.3037,"G",0.3037]
["02160816100201_XZ",12252892,1,"C","CT",206,"0;0","81;32","0;0","69;24","0;0","0;0",0,0,0,0,2600,"Unknown","N/A","N/A","TNFRSF1B","c.552-28C>T","NM_001066.2",null,null,"Intron","rs1768642",45.15,{"$nulls":4},0.1909,0.1498,"T",0.1909,"T",0.1909]
["02160816100201_XZ",12252955,1,"T","GT",336,"0;0","0;0","101;44","117;74","0;0","0;0",0,0,0,0,2689,"Nonsynonymous","N/A","N/A","TNFRSF1B","c.587T>G","NM_001066.2","CDS6","p.M196R","Exon","rs1061622",43.15,0.1969,0.1661,0.2236,0.1575,0.1947,0.1498,"G",0.1947,"G",0.1947,"CM022071","NM_001066.2:c.587T-G","missense/nonsense","DFP","Systemiclupus erythematosus, association with","T","B","B","P",0.482,".","."]
["02160816100201_XZ",12253062,1,"G","AG",498,"110;124","0;1","115;147","0;0","0;0","0;1",0,0,0,0,559,"Nonsynonymous","N/A","N/A","TNFRSF1B","c.694G>A","NM_001066.2","CDS6","p.E232K","Exon","rs5746026",46.99,0.0215,0.0245,0.0287,0.0381,0.0228,0.0298,"A",0.02276,"A",0.02276,{"$nulls":5},"T","B","B","N",0.655,".","."]
["02160816100201_XZ",12267265,1,"A","AG",255,"42;81","0;3","49;80","0;0","0;0","0;0",0,0,0,0,2804,"Unknown","N/A","N/A","TNFRSF1B","c.*188A>G","NM_001066.2",null,null,"Intron","rs1061624",50.59,{"$nulls":6},"G",0.4565,"G",0.4565]
["02160816100201_XZ",12267292,1,"C","TT",217,"0;0","0;0","0;0","72;145","0;0","0;0",0,0,0,0,1812,"regulatory","N/A","N/A","TNFRSF1B","c.*215C>T","NM_001066.2",null,null,"Intron","rs3397",100,{"$nulls":6},"T",0.4091,"T",0.4091,"CR051714","null","regulatory","DFP","Tuberculosis,association with"]
["02160816100201_XZ",12267814,1,"G","AG",12,"0;4","0;0","0;8","0;0","0;0","0;0",0,1,0,0,13,"Unknown","N/A","N/A","TNFRSF1B","c.*737G>A","NM_001066.2",null,null,"Intron",null,33.33,{"$nulls":8},"A"]
["02160816100201_XZ",12267839,1,"C","CT",12,"0;0","1;8","0;0","0;3","0;0","0;0",0,1,0,1,5,"Unknown","N/A","N/A","TNFRSF1B","c.*762C>T","NM_001066.2",null,null,"Intron",null,25,{"$nulls":8},"T"]
["02160816100201_XZ",12267840,1,"A","AG",12,"1;8","0;0","0;3","0;0","0;0","0;0",0,1,0,1,5,"Unknown","N/A","N/A","TNFRSF1B","c.*763A>G","NM_001066.2",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",12267972,1,"A","insA",35,"20;15","0;0","0;0","0;0","8;5","0;0",0,0,0,0,240,"Unknown","N/A","N/A","TNFRSF1B","c.*904_*905insA","NM_001066.2",null,null,"Intron","rs397793997,rs55651536",37.14,{"$nulls":8},"insA"]
["02160816100201_XZ",12267999,1,"C","CT",45,"0;0","18;7","0;0","11;9","0;0","0;0",0,0,0,0,680,"Unknown","N/A","N/A","TNFRSF1B","c.*922C>T","NM_001066.2",null,null,"Intron","rs1061628",44.44,{"$nulls":6},"T",0.3592,"T",0.3592]
["02160816100201_XZ",12268499,1,"G","AG",727,"163;169","0;0","189;205","0;1","0;0","0;0",0,0,0,0,309,"Unknown","N/A","N/A","TNFRSF1B","c.*1422G>A","NM_001066.2",null,null,"Intron","rs1061631",45.67,{"$nulls":6},"A",0.1154,"A",0.1154]
["02160816100201_XZ",15769877,1,"C","insC",123,"0;0","85;37","0;0","0;1","80;32","0;0",0,1,0,0,7160,"Unknown",null,"N/A","CTRC","c.357-36_357-35insC","NM_007272.2",null,null,"Intron","rs35149641,rs397730661",91.06,{"$nulls":8},"insC"]
["02160816100201_XZ",16340761,1,"T","CC",367,"0;0","173;193","0;0","0;1","0;0","0;0",0,1,0,0,1299,"Unknown",null,"N/A","HSPB7","c.*1314A>G","NM_014424.4",null,null,"Intron","rs1048334",99.73,{"$nulls":8},"G"]
["02160816100201_XZ",16340844,1,"C","delC",336,"1;0","15;12","0;0","0;1","0;0","136;171",0,0,0,0,1052,"Unknown",null,"N/A","HSPB7","c.*1231delG","NM_014424.4",null,null,"Intron","rs34035811,rs61379672,rs796416835",91.37,{"$nulls":8},"delG"]
["02160816100201_XZ",16340879,1,"T","GG",315,"0;0","1;1","137;175","1;0","0;0","0;0",0,1,0,0,1025,"Unknown",null,"N/A","HSPB7","c.*1196A>C","NM_014424.4",null,null,"Intron","rs1048302",99.05,{"$nulls":8},"C"]
["02160816100201_XZ",16340951,1,"A","TT",288,"1;0","0;0","0;0","136;151","1;0","0;0",0,1,0,0,928,"Unknown",null,"N/A","HSPB7","c.*1124T>A","NM_014424.4",null,null,"Intron","rs1048261",99.65,{"$nulls":8},"A"]
["02160816100201_XZ",16341354,1,"T","GG",178,"0;0","0;1","85;90","2;0","0;0","0;0",0,1,0,0,1552,"Unknown",null,"N/A","HSPB7","c.*721A>C","NM_014424.4",null,null,"Intron","rs1048245",98.31,{"$nulls":8},"C"]
["02160816100201_XZ",16341649,1,"C","TT",338,"0;1","0;3","0;0","173;161","0;0","0;0",0,1,0,0,1991,"Unknown",null,"N/A","HSPB7","c.*426G>A","NM_014424.4",null,null,"Intron","rs1048238",98.82,{"$nulls":8},"A"]
["02160816100201_XZ",16341733,1,"T","CC",347,"0;1","161;184","0;0","0;1","0;0","0;0",0,1,0,0,2670,"Unknown",null,"N/A","HSPB7","c.*342A>G","NM_014424.4",null,null,"Intron","rs1048237",99.42,{"$nulls":8},"G"]
["02160816100201_XZ",16342237,1,"A","GG",184,"0;0","0;0","66;118","0;0","0;0","0;0",0,1,0,0,6307,"Synonymous",null,"N/A","HSPB7","c.351T>C","NM_014424.4","CDS3","p.T117T","Exon","rs1739840",100,{"$nulls":8},"C"]
["02160816100201_XZ",16344360,1,"A","GG",194,"3;0","0;0","90;101","0;0","0;0","0;0",0,1,0,0,6326,"Synonymous",null,"N/A","HSPB7","c.99T>C","NM_014424.4","CDS1","p.A33A","Exon","rs732286",98.45,{"$nulls":8},"C"]
["02160816100201_XZ",16344402,1,"G","AA",181,"88;90","0;1","2;0","0;0","0;0","0;0",0,1,0,0,6323,"Synonymous",null,"N/A","HSPB7","c.57C>T","NM_014424.4","CDS1","p.S19S","Exon","rs945416",98.34,{"$nulls":8},"T"]
["02160816100201_XZ",16344494,1,"G","AA",193,"93;97","0;0","0;0","0;0","0;0","3;0",0,1,0,0,6213,"Unknown",null,"N/A","HSPB7","c.-36C>T","NM_014424.4",null,null,"Intron","rs1572381",98.45,0.6387,0.7535,0.5831,0.7456,{"$nulls":4},"T",{"$nulls":6},"T","B","B","P",0.455,".","."]
["02160816100201_XZ",16344625,1,"C","GG",170,"0;0","1;0","79;90","0;0","0;0","0;0",0,1,0,0,5016,"Unknown",null,"N/A","HSPB7","c.-167G>C","NM_014424.4",null,null,"Intron","rs945417",99.41,0.6337,0.75,0.4898,0.7624,{"$nulls":4},"C",{"$nulls":6},"T","P","B","P",0.462,".","."]
["02160816100201_XZ",16344664,1,"G","AA",190,"94;91","0;0","3;2","0;0","0;0","0;0",0,1,0,0,2849,"Unknown",null,"N/A","HSPB7","c.-206C>T","NM_014424.4",null,null,"Intron","rs872222",97.37,0.4538,0.6906,0.276,0.649,{"$nulls":4},"T",{"$nulls":6},"T","B","B","P",0.462,".","."]
["02160816100201_XZ",16344730,1,"T","CC",232,"0;0","133;96","0;0","0;0","0;0","0;3",0,1,0,0,2835,"Unknown",null,"N/A","HSPB7","c.-272A>G","NM_014424.4",null,null,"Intron","rs945418",98.71,{"$nulls":8},"G"]
["02160816100201_XZ",16344858,1,"C","TT",372,"0;0","1;1","1;0","191;178","0;0","0;0",0,1,0,0,1203,"Unknown",null,"N/A","HSPB7","c.-400G>A","NM_014424.4",null,null,"Intron","rs945419",99.19,{"$nulls":8},"A"]
["02160816100201_XZ",16345208,1,"G","AA",312,"141;170","0;1","0;0","0;0","0;0","0;0",0,1,0,0,747,"Unknown",null,"N/A","HSPB7","c.-750C>T","NM_014424.4",null,null,"Intron","rs945420",99.68,{"$nulls":8},"T"]
["02160816100201_XZ",16351275,1,"A","GG",271,"0;0","0;0","160;109","0;2","0;0","0;0",0,0,0,0,7023,"Nonsynonymous","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.247A>G","NM_004070.3","CDS3","p.R83G","Exon","rs10927887",99.26,0.625,0.7483,0.5631,0.7458,0.643,0.7688,"A",0.357,"G",0.643,"CM110909","NM_004070.3:c.247A-G","missense/nonsense","DFP","Heartfailure, increased risk","T","B","B","P",-1.325,".","."]
["02160816100201_XZ",16354280,1,"G","CG",1083,"0;0","427;288","228;138","1;1","0;0","0;0",0,0,0,0,5870,"Unknown","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.782-36G>C","NM_004070.3",null,null,"Intron","rs10927889",66.02,{"$nulls":4},0.6424,0.875,"G",0.3576,"C",0.6424]
["02160816100201_XZ",16354394,1,"C","CT",1211,"3;0","428;502","0;0","76;202","0;0","0;0",0,0,0,0,2346,"Nonsynonymous","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.860C>T","NM_004070.3","CDS8","p.A287V","Exon","rs200268763",22.96,0.0389,0.0559,0.0058,0.0406,0.0174,0.0347,"T",0.01737,"T",0.01737,{"$nulls":5},"T","B","B","N",-0.657,".","."]
["02160816100201_XZ",16356501,1,"G","AA",312,"139;172","1;0","0;0","0;0","0;0","0;0",0,0,0,0,7140,"Nonsynonymous","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.1339G>A","NM_004070.3","CDS13","p.A447T","Exon","rs1805152",99.68,0.6328,0.75,0.5603,0.7457,0.6486,0.7669,"G",0.3514,"A",0.6486,"CM072953","NM_004070.3:c.1339A-G","missense/nonsense","DP","Increasedblood pressure after Na-load, association with","T","B","B","P",-1.745,".","."]
["02160816100201_XZ",16356583,1,"C","TT",209,"0;0","0;0","0;0","70;139","0;0","0;0",0,0,0,0,6621,"Unknown","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.1408+13C>T","NM_004070.3",null,null,"Intron","rs3737218",100,{"$nulls":6},"T",0.4183,"T",0.4183]
["02160816100201_XZ",16358685,1,"C","GG",215,"0;0","0;0","84;130","0;1","0;0","0;0",0,0,0,0,7688,"Unknown","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.1757-13C>G","NM_004070.3",null,null,"Intron","rs6669935",99.53,{"$nulls":4},0.6867,0.9683,"C",0.3133,"G",0.6867]
["02160816100201_XZ",16358932,1,"T","CC",238,"0;0","139;97","0;0","0;2","0;0","0;0",0,0,0,0,7879,"Unknown","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.1846-6T>C","NM_004070.3",null,null,"Intron","rs10803407",99.16,{"$nulls":6},"T",0.251,"C",0.749]
["02160816100201_XZ",16359051,1,"C","AA",222,"86;134","0;0","0;0","0;0","0;0","2;0",0,0,0,1,6996,"Unknown","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.1929+30C>A","NM_004070.3",null,null,"Intron","rs10927892",99.1,{"$nulls":6},"C",0.3518,"A",0.6482]
["02160816100201_XZ",16359052,1,"A","GG",226,"2;2","0;0","88;134","0;0","0;0","0;0",0,0,0,1,7664,"Unknown","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.1929+31A>G","NM_004070.3",null,null,"Intron","rs10927893",98.23,{"$nulls":6},"A",0.236,"G",0.764]
["02160816100201_XZ",16360316,1,"A","TT",518,"17;14","0;0","0;0","155;332","1;1","0;0",0,0,0,0,4338,"Unknown","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.*163A>T","NM_004070.3",null,null,"Intron","rs57537563",94.02,{"$nulls":6},"A",0.4107,"T",0.5893]
["02160816100201_XZ",16360424,1,"G","CG",140,"0;0","21;83","15;19","1;1","0;0","0;0",0,0,0,0,1137,"Unknown","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.*271G>C","NM_004070.3",null,null,"Intron","rs58783141",74.29,{"$nulls":8},"C"]
["02160816100201_XZ",16360444,1,"C","TT",73,"1;0","1;1","1;0","9;59","1;0","1;0",0,0,0,0,1151,"Unknown","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.*291C>T","NM_004070.3",null,null,"Intron","rs112701437",93.15,{"$nulls":6},"C",0.4269,"T",0.5731]
["02160816100201_XZ",16360478,1,"A","CC",7,"1;0","2;4","0;0","0;0","0;0","0;0",1,0,0,1,808,"Unknown","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.*325A>C","NM_004070.3",null,null,"Intron","rs112960271",85.71,{"$nulls":6},"C",0.2502,"C",0.2502]
["02160816100201_XZ",16360484,1,"C","GG",5,"0;0","0;0","2;3","0;0","0;0","0;0",1,0,0,1,30,"Unknown","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.*331C>G","NM_004070.3",null,null,"Intron","rs867693173",100,{"$nulls":8},"G"]
["02160816100201_XZ",16360486,1,"C","TT",5,"0;0","0;0","0;0","2;3","0;0","0;0",1,0,0,1,767,"Unknown","DR","BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKA","c.*333C>T","NM_004070.3",null,null,"Intron","rs111522817",100,{"$nulls":6},"T",0.2494,"T",0.2494]
["02160816100201_XZ",16360550,1,"C","delC,GG",6,"0;0","0;1","1;2","0;0","0;0","0;2",1,0,0,0,0,"Unknown",null,"N/A","N/A","c.*392+5delC,c.*392+5C>G",{"$nulls":3},"Intron","rs34785214","33.33,50.00",{"$nulls":6},"G",0.3964,"G",0.3964]
["02160816100201_XZ",16370179,1,"G","insGCTCT",169,"0;0","0;0","109;60","0;0","86;42","0;0",0,1,0,0,1436,"Unknown",null,"N/A","N/A","c.-152-34_-152-33insTGCTC",{"$nulls":3},"Intron","rs13306239,rs140307022,rs3085862",75.74,{"$nulls":8},"insTGCTC"]
["02160816100201_XZ",16370215,1,"A","GG",190,"0;0","0;0","108;81","0;1","0;0","0;0",0,0,0,0,2704,"Unknown",null,"N/A","N/A","c.-152-16A>G",{"$nulls":3},"Intron","rs868950",99.47,{"$nulls":6},"G",0.4934,"G",0.4934]
["02160816100201_XZ",16371067,1,"G","TT",296,"0;0","0;0","0;0","131;165","0;0","0;0",0,0,0,0,7013,"Nonsynonymous","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.80G>T","NM_000085.4","CDS1","p.R27L","Exon","rs2015352",100,0.5966,0.708,0.6012,0.6597,null,null,"G",0.4445,"T",0.5555,{"$nulls":5},"D","P","B","P",0.462,".","."]
["02160816100201_XZ",16372003,1,"G","CC",189,"0;1","139;46","0;1","0;2","0;0","0;0",0,0,0,0,7108,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.101-50G>C","NM_000085.4",null,null,"Intron","rs6604910",97.88,{"$nulls":4},0.5665,0.7004,"G",0.4335,"C",0.5665]
["02160816100201_XZ",16373124,1,"A","GG",262,"1;1","0;0","115;144","1;0","0;0","0;0",0,0,0,0,8089,"Synonymous","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.324A>G","NM_000085.4","CDS3","p.S108S","Exon","rs5257",98.85,{"$nulls":4},0.7404,0.9881,"A",0.2596,"G",0.7404]
["02160816100201_XZ",16373200,1,"C","delCTT",167,"0;0","4;8","0;0","0;0","0;0","54;101",0,0,0,0,8081,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.358+44_358+46delTCT","NM_000085.4",null,null,"Intron","rs35820664,rs375546236,rs72506933,rs758155386",92.81,{"$nulls":8},"delTCT"]
["02160816100201_XZ",16373201,1,"T","-",164,"0;0","0;0","0;0","2;6","0;0","54;102",0,0,0,0,8080,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","-","NM_000085.4",null,null,"Intron","rs35820664,rs375546236,rs72506933",95.12,{"$nulls":8},"-"]
["02160816100201_XZ",16373202,1,"T","-",162,"0;0","1;5","0;0","0;0","0;0","54;102",0,0,0,0,8060,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","-","NM_000085.4",null,null,"Intron",null,96.3,{"$nulls":8},"-"]
["02160816100201_XZ",16374533,1,"G","CC",216,"0;0","82;130","4;0","0;0","0;0","0;0",0,0,0,0,8306,"Synonymous","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.492G>C","NM_000085.4","CDS4","p.G164G","Exon","rs2014562",98.15,{"$nulls":4},0.894,0.999,"G",0.106,"C",0.894]
["02160816100201_XZ",16374994,1,"C","TT",334,"0;0","17;18","0;0","126;173","0;0","0;0",0,0,0,0,6827,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.577-5C>T","NM_000085.4",null,null,"Intron","rs1889788,rs34666902",89.52,{"$nulls":4},0.7386,0.9881,"C",0.2614,"T",0.7386]
["02160816100201_XZ",16375063,1,"C","GG",305,"0;0","0;11","112;182","0;0","0;0","0;0",0,0,0,1,6750,"Nonsynonymous","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.641C>G","NM_000085.4","CDS6","p.A214G","Exon","rs1889789,rs45612832",96.39,0.7198,0.8654,"NA","NA",null,null,"C",0.1727,"G",0.8273,{"$nulls":5},"T","B","B","P",-0.782,".","."]
["02160816100201_XZ",16375064,1,"A","CC",299,"0;6","111;180","0;0","0;1","0;0","0;1",0,0,0,1,6755,"Synonymous","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.642A>C","NM_000085.4","CDS6","p.A214A","Exon","rs1889790,rs45575235",97.32,{"$nulls":6},"A",0.1727,"C",0.8273]
["02160816100201_XZ",16375210,1,"G","AA",114,"46;67","0;1","0;0","0;0","0;0","0;0",0,0,0,0,3343,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.655+133G>A","NM_000085.4",null,null,"Intron","rs9633514",99.12,{"$nulls":6},"A",0.357,"A",0.357]
["02160816100201_XZ",16375354,1,"C","TT",180,"0;0","0;0","0;0","97;83","0;0","0;0",0,0,0,0,6109,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.656-261C>T","NM_000085.4",null,null,"Intron","rs9442227",100,{"$nulls":6},"C",0.2726,"T",0.7274]
["02160816100201_XZ",16375601,1,"A","AT",178,"54;39","0;0","0;0","56;29","0;0","0;0",0,0,0,0,785,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.656-14A>T","NM_000085.4",null,null,"Intron","rs13306241",47.75,{"$nulls":4},0.0098,0.0486,"T",0.009784,"T",0.009784]
["02160816100201_XZ",16376191,1,"C","TT",441,"0;1","27;22","0;0","209;182","0;0","0;0",0,0,0,0,7876,"Nonsynonymous","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.860C>T","NM_000085.4","CDS8","p.A287V","Exon","rs34188929,rs7367494",88.66,0.864,0.9983,0.9091,0.9986,0.8299,0.998,"C",0.1701,"T",0.8299,{"$nulls":5},"T","B","B","P",-1.206,".","."]
["02160816100201_XZ",16376231,1,"A","insT",475,"190;228","0;2","0;0","37;18","171;196","0;0",0,0,1,1,7903,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.866+33_866+34insT","NM_000085.4",null,null,"Intron","rs386628876,rs59006537",77.26,{"$nulls":8},"insT"]
["02160816100201_XZ",16376232,1,"A","TT",472,"47;36","0;2","0;0","175;212","0;0","0;0",0,0,0,1,7900,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.866+35A>T","NM_000085.4",null,null,"Intron","rs59924562",81.99,{"$nulls":4},0.7542,0.8224,"A",0.2458,"T",0.7542]
["02160816100201_XZ",16376239,1,"C","delC",477,"0;0","20;22","0;0","6;1","0;0","198;230",0,0,0,1,8088,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.866+47delC","NM_000085.4",null,null,"Intron","rs34589727,rs796211746",89.73,{"$nulls":8},"delC"]
["02160816100201_XZ",16376278,1,"G","AA",469,"193;276","0;0","0;0","0;0","0;0","0;0",0,0,0,0,8056,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.867-32G>A","NM_000085.4",null,null,"Intron","rs7365182",100,{"$nulls":4},0.8279,0.999,"G",0.1721,"A",0.8279]
["02160816100201_XZ",16376319,1,"T","CC",383,"0;2","151;228","0;0","1;1","0;0","0;0",0,0,0,0,8305,"Synonymous","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.876T>C","NM_000085.4","CDS9","p.C292C","Exon","rs7368151",98.96,{"$nulls":4},0.8301,0.999,"T",0.1699,"C",0.8301]
["02160816100201_XZ",16376458,1,"T","CC",138,"2;0","51;84","0;0","0;0","0;0","0;1",0,0,0,0,8055,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.968+47T>C","NM_000085.4",null,null,"Intron","rs7368166",97.83,{"$nulls":6},"T",0.1699,"C",0.8301]
["02160816100201_XZ",16380196,1,"T","CC",445,"2;1","240;201","0;0","0;1","0;0","0;0",0,0,0,0,7834,"Nonsynonymous","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.1685T>C","NM_000085.4","CDS15","p.M562T","Exon","rs5253",99.1,0.8342,0.8129,0.9308,0.8081,null,null,"T",0.1617,"C",0.8383,{"$nulls":5},"T","B","B","P",-1.86,".","."]
["02160816100201_XZ",16380243,1,"A","GG",449,"0;1","0;0","198;250","0;0","0;0","0;0",0,0,0,1,7768,"Nonsynonymous","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.1732A>G","NM_000085.4","CDS15","p.K578E","Exon","rs2275166",99.78,0.7024,0.8182,0.6585,0.795,0.7017,0.8056,"A",0.2983,"G",0.7017,"CM1514575","NM_000085.4:c.1732A-G","missense/nonsense","DM?","Migrainewithout aura","T","B","B","P",-0.133,".","."]
["02160816100201_XZ",16380252,1,"C","TT",446,"1;0","3;0","0;0","187;255","0;0","0;0",0,0,0,1,7733,"Synonymous","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.1741C>T","NM_000085.4","CDS15","p.L581L","Exon","rs2275167",99.1,{"$nulls":4},0.6136,0.8016,"C",0.3864,"T",0.6136]
["02160816100201_XZ",16382877,1,"A","GG",431,"1;4","0;0","232;194","0;0","0;0","0;0",0,0,0,0,7696,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.1930-40A>G","NM_000085.4",null,null,"Intron","rs7517792",98.84,{"$nulls":4},0.7841,0.8234,"A",0.2159,"G",0.7841]
["02160816100201_XZ",16383330,1,"C","insC",80,"0;1","9;70","0;0","0;0","5;65","0;0",0,1,0,1,4276,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.2017-29_2017-28insC","NM_000085.4",null,null,"Intron","rs138507185",87.5,{"$nulls":8},"insC"]
["02160816100201_XZ",16383336,1,"G","CC",90,"0;0","18;71","0;0","0;0","0;0","0;1",0,0,0,1,4856,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.2017-28G>C","NM_000085.4",null,null,"Intron","rs12746138",98.89,{"$nulls":6},"G",0.2853,"C",0.7147]
["02160816100201_XZ",16383448,1,"A","CC",488,"8;0","276;204","0;0","0;0","0;0","0;0",0,0,0,0,5291,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.*37A>C","NM_000085.4",null,null,"Intron","rs10803415",98.36,{"$nulls":4},0.901,0.8244,"A",0.09904,"C",0.901]
["02160816100201_XZ",16383581,1,"G","TT",710,"1;1","1;0","100;5","306;295","0;0","0;1",0,0,0,0,5015,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.*170G>T","NM_000085.4",null,null,"Intron","rs1057844",84.65,{"$nulls":8},"T"]
["02160816100201_XZ",16383605,1,"A","AG",753,"141;28","0;0","293;289","0;1","0;0","1;0",0,1,0,0,4882,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.*194A>G","NM_000085.4",null,null,"Intron","rs1057845",77.29,{"$nulls":8},"G"]
["02160816100201_XZ",16383668,1,"T","GG",986,"1;3","1;0","515;463","3;0","0;0","0;0",0,0,0,0,5159,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.*257T>G","NM_000085.4",null,null,"Intron","rs6660218",99.19,{"$nulls":4},1,1,"T",0,"G",1]
["02160816100201_XZ",16383682,1,"G","CG",1016,"0;1","237;184","290;298","1;5","0;0","0;0",0,0,0,0,3642,"regulatory","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.*271G>C","NM_000085.4",null,null,"Intron","rs1057854",41.44,"NA","NA",0.2239,0.4272,{"$nulls":4},"C",null,"CR133355","null","regulatory","DM?","Barttersyndrome 3","D",".",".","N",-1.368,".","."]
["02160816100201_XZ",16383742,1,"C","CG",1165,"0;0","262;281","286;335","1;0","1;0","0;0",0,0,0,0,4489,"Unknown","1.AR","BARTTER SYNDROME, TYPE 3 (OMIM:607364), BARTTER SYNDROME, TYPE 4B (OMIM:613090)","CLCNKB","c.*331C>G","NM_000085.4",null,null,"Intron","rs1057857",53.3,"NA","NA",0.5854,0.4944,{"$nulls":4},"G",{"$nulls":6},"T",".",".","P",0.484,".","."]
["02160816100201_XZ",17359676,1,"C","AA",115,"49;64","2;0","0;0","0;0","0;0","0;0",0,1,0,0,7545,"Unknown","N/A","PARAGANGLIOMAS 4 (OMIM:115310), COWDEN-LIKE SYNDROME (OMIM:612359), GASTROINTESTINAL STROMAL TUMOR (OMIM:606764), CARNEY-STRATAKIS SYNDROME (OMIM:606864), PHEOCHROMOCYTOMA (OMIM:171300)","SDHB","c.201-36G>T","NM_003000.2",null,null,"Intron","rs1022580",98.26,{"$nulls":8},"T"]
["02160816100201_XZ",17380497,1,"G","TT",164,"0;0","0;0","1;0","107;56","0;0","0;0",0,1,0,0,7778,"Synonymous","N/A","PARAGANGLIOMAS 4 (OMIM:115310), COWDEN-LIKE SYNDROME (OMIM:612359), GASTROINTESTINAL STROMAL TUMOR (OMIM:606764), CARNEY-STRATAKIS SYNDROME (OMIM:606864), PHEOCHROMOCYTOMA (OMIM:171300)","SDHB","c.18C>A","NM_003000.2","CDS1","p.A6A","Exon","rs2746462",99.39,{"$nulls":8},"A"]
["02160816100201_XZ",21671915,1,"G","delG",20,"0;0","0;0","8;5","0;0","0;0","4;3",0,0,0,0,128,"Unknown",null,"HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, A... (OMIM:613870)","ECE1","c.-75-54933delC","NM_001397.2",null,null,"Intron","rs756339386",35,{"$nulls":8},"delC"]
["02160816100201_XZ",21671943,1,"T","GT",18,"0;0","0;0","5;5","4;4","0;0","0;0",0,1,0,0,3987,"Unknown",null,"HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, A... (OMIM:613870)","ECE1","c.-75-54961A>C","NM_001397.2",null,null,"Intron","rs2072654",55.56,{"$nulls":8},"C"]
["02160816100201_XZ",21835880,1,"G","CG",8,"0;0","0;2","6;0","0;0","0;0","0;0",1,1,0,0,4,"Unknown","1.AR、AD/2.AR/3.AR/4.AD","HYPOPHOSPHATASIA, ADULT (OMIM:146300), HYPOPHOSPHATASIA, INFANTILE (OMIM:241500), HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)","ALPL","c.-235G>C","NM_000478.4",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",21889635,1,"T","CC",418,"1;0","195;219","2;0","0;1","0;0","0;0",0,0,0,0,8163,"Synonymous","1.AR、AD/2.AR/3.AR/4.AD","HYPOPHOSPHATASIA, ADULT (OMIM:146300), HYPOPHOSPHATASIA, INFANTILE (OMIM:241500), HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)","ALPL","c.330T>C","NM_000478.4","CDS4","p.S110S","Exon","rs1780316",99.04,{"$nulls":4},0.9295,0.9821,"T",0.07049,"C",0.9295]
["02160816100201_XZ",21896767,1,"C","CT",246,"0;0","74;38","0;0","86;48","0;0","0;0",0,0,0,0,2754,"Unknown","1.AR、AD/2.AR/3.AR/4.AD","HYPOPHOSPHATASIA, ADULT (OMIM:146300), HYPOPHOSPHATASIA, INFANTILE (OMIM:241500), HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)","ALPL","c.793-31C>T","NM_000478.4",null,null,"Intron","rs1256328",54.47,{"$nulls":4},0.1556,0.1845,"T",0.1556,"T",0.1556]
["02160816100201_XZ",21904206,1,"C","CT",322,"1;0","84;69","0;0","89;79","0;0","0;0",0,0,0,0,3045,"Unknown","1.AR、AD/2.AR/3.AR/4.AD","HYPOPHOSPHATASIA, ADULT (OMIM:146300), HYPOPHOSPHATASIA, INFANTILE (OMIM:241500), HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)","ALPL","c.*65C>T","NM_000478.4",null,null,"Intron","rs1697405",52.17,{"$nulls":6},"T",0.3367,"T",0.3367]
["02160816100201_XZ",21904267,1,"A","AG",368,"85;92","0;0","99;92","0;0","0;0","0;0",0,0,0,0,5861,"Unknown","1.AR、AD/2.AR/3.AR/4.AD","HYPOPHOSPHATASIA, ADULT (OMIM:146300), HYPOPHOSPHATASIA, INFANTILE (OMIM:241500), HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)","ALPL","c.*126A>G","NM_000478.4",null,null,"Intron","rs1697406",51.9,{"$nulls":6},"A",0.1318,"G",0.8682]
["02160816100201_XZ",21904529,1,"C","CT",517,"0;0","157;107","0;0","144;109","0;0","0;0",0,0,0,0,1200,"Unknown","1.AR、AD/2.AR/3.AR/4.AD","HYPOPHOSPHATASIA, ADULT (OMIM:146300), HYPOPHOSPHATASIA, INFANTILE (OMIM:241500), HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)","ALPL","c.*388C>T","NM_000478.4",null,null,"Intron","rs2242420",48.94,{"$nulls":6},"T",0.1172,"T",0.1172]
["02160816100201_XZ",21904574,1,"A","AG",515,"119;127","1;1","138;128","1;0","0;0","0;0",0,0,0,0,3183,"Unknown","1.AR、AD/2.AR/3.AR/4.AD","HYPOPHOSPHATASIA, ADULT (OMIM:146300), HYPOPHOSPHATASIA, INFANTILE (OMIM:241500), HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)","ALPL","c.*433A>G","NM_000478.4",null,null,"Intron","rs2242421",51.65,{"$nulls":6},"G",0.222,"G",0.222]
["02160816100201_XZ",22443887,1,"G","GT",301,"0;0","0;0","106;78","67;50","0;0","0;0",0,1,0,0,318,"Unknown","1.AD/2.NA","MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330), 46,XX SEX REVERSAL WITH DYSGENESIS OF KI... (OMIM:611812)","WNT4","c.*2656C>A","NM_030761.4",null,null,"Intron","rs1046310",38.87,{"$nulls":8},"A"]
["02160816100201_XZ",22444490,1,"A","CC",269,"1;0","135;132","1;0","0;0","0;0","0;0",0,1,0,0,1692,"Unknown","1.AD/2.NA","MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330), 46,XX SEX REVERSAL WITH DYSGENESIS OF KI... (OMIM:611812)","WNT4","c.*2053T>G","NM_030761.4",null,null,"Intron","rs4655023",99.26,{"$nulls":8},"G"]
["02160816100201_XZ",22444810,1,"C","AA",219,"129;90","0;0","0;0","0;0","0;0","0;0",0,1,0,0,1107,"Unknown","1.AD/2.NA","MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330), 46,XX SEX REVERSAL WITH DYSGENESIS OF KI... (OMIM:611812)","WNT4","c.*1733G>T","NM_030761.4",null,null,"Intron","rs7552004",100,{"$nulls":8},"T"]
["02160816100201_XZ",22444859,1,"T","GG",287,"1;0","0;0","163;123","0;0","0;0","0;0",0,1,0,0,1189,"Unknown","1.AD/2.NA","MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330), 46,XX SEX REVERSAL WITH DYSGENESIS OF KI... (OMIM:611812)","WNT4","c.*1684A>C","NM_030761.4",null,null,"Intron","rs10753528",99.65,{"$nulls":8},"C"]
["02160816100201_XZ",22444975,1,"C","CT",467,"1;0","133;105","2;0","127;99","0;0","0;0",0,1,0,0,1284,"Unknown","1.AD/2.NA","MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330), 46,XX SEX REVERSAL WITH DYSGENESIS OF KI... (OMIM:611812)","WNT4","c.*1568G>A","NM_030761.4",null,null,"Intron","rs10737462",48.39,{"$nulls":8},"A"]
["02160816100201_XZ",22445617,1,"A","delAG",146,"0;0","0;0","4;2","0;0","0;0","55;85",0,0,0,0,1176,"Unknown","1.AD/2.NA","MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330), 46,XX SEX REVERSAL WITH DYSGENESIS OF KI... (OMIM:611812)","WNT4","c.*925_*926delCT","NM_030761.4",null,null,"Intron","rs55866536,rs773954909",95.89,{"$nulls":8},"delCT"]
["02160816100201_XZ",22445618,1,"G","-",144,"0;0","0;0","3;1","1;0","0;0","54;85",0,0,0,0,1182,"Unknown","1.AD/2.NA","MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330), 46,XX SEX REVERSAL WITH DYSGENESIS OF KI... (OMIM:611812)","WNT4","-","NM_030761.4",null,null,"Intron",null,96.53,{"$nulls":8},"-"]
["02160816100201_XZ",22445721,1,"G","GT",190,"0;0","0;1","49;25","43;72","0;0","0;0",0,1,0,1,1027,"Unknown","1.AD/2.NA","MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330), 46,XX SEX REVERSAL WITH DYSGENESIS OF KI... (OMIM:611812)","WNT4","c.*822C>A","NM_030761.4",null,null,"Intron","rs12161351",60.53,{"$nulls":8},"A"]
["02160816100201_XZ",22445722,1,"T","insTT",190,"0;1","1;1","0;1","90;95","33;16","0;1",0,0,0,1,323,"Unknown","1.AD/2.NA","MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330), 46,XX SEX REVERSAL WITH DYSGENESIS OF KI... (OMIM:611812)","WNT4","c.*821_*822insAA","NM_030761.4",null,null,"Intron","rs35917567,rs58912525",25.79,{"$nulls":8},"insAA"]
["02160816100201_XZ",22445991,1,"C","CT",539,"1;0","117;163","0;0","119;139","0;0","0;0",0,1,0,0,325,"Unknown","1.AD/2.NA","MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330), 46,XX SEX REVERSAL WITH DYSGENESIS OF KI... (OMIM:611812)","WNT4","c.*552G>A","NM_030761.4",null,null,"Intron","rs3765351",47.87,{"$nulls":8},"A"]
["02160816100201_XZ",22446109,1,"T","insT",370,"0;0","0;1","0;0","174;195","76;82","0;0",0,0,0,0,343,"Unknown","1.AD/2.NA","MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330), 46,XX SEX REVERSAL WITH DYSGENESIS OF KI... (OMIM:611812)","WNT4","c.*434_*435insA","NM_030761.4",null,null,"Intron","rs3835220,rs397782177",42.7,{"$nulls":8},"insA"]
["02160816100201_XZ",22469389,1,"C","TT",4,"0;0","0;0","0;0","2;2","0;0","0;0",1,1,0,0,1,"Synonymous","1.AD/2.NA","MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330), 46,XX SEX REVERSAL WITH DYSGENESIS OF KI... (OMIM:611812)","WNT4","c.27G>A","NM_030761.4","CDS1","p.S9S","Exon",null,100,{"$nulls":8},"A"]
["02160816100201_XZ",23399932,1,"C","TT",54,"0;0","0;0","0;0","18;35","0;0","1;0",0,0,0,0,3211,"Unknown",null,"N/A","KDM1A","c.1734+36C>T","NM_001009999.2",null,null,"Intron","rs967605",98.15,{"$nulls":6},"C",0.2602,"T",0.7398]
["02160816100201_XZ",23410138,1,"T","insG,GT",61,"1;0","0;0","6;27","11;16","6;12","0;0",0,0,1,1,28,"Unknown",null,"N/A","KDM1A","c.*280_*281insG,c.*281T>GT","NM_001009999.2",null,null,"Intron","rs12137204,rs147939451","29.51,54.10",{"$nulls":6},"T",0.4345,"G",0.5655]
["02160816100201_XZ",23410140,1,"G","TT",59,"0;0","0;0","2;1","16;40","0;0","0;0",0,0,0,1,792,"Unknown",null,"N/A","KDM1A","c.*283G>T","NM_001009999.2",null,null,"Intron","rs12139776",94.92,{"$nulls":6},"G",0.262,"T",0.738]
["02160816100201_XZ",24018224,1,"C","TT",179,"0;0","0;0","0;0","103;76","0;0","0;0",0,0,0,0,5236,"Unknown",null,"N/A","N/A","c.-45-45C>T",{"$nulls":3},"Intron","rs3753270",100,{"$nulls":6},"T",0.3257,"T",0.3257]
["02160816100201_XZ",24018277,1,"C","GG",180,"0;0","1;0","85;94","0;0","0;0","0;0",0,0,0,0,7652,"Unknown",null,"DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)","RPL11","c.-37C>G","NM_000975.3",null,null,"Intron","rs10917413",99.44,{"$nulls":4},0.9768,0.996,"C",0.02316,"G",0.9768]
["02160816100201_XZ",24082270,1,"A","insA",51,"34;12","0;0","0;0","0;0","10;1","4;1",0,1,1,0,344,"Unknown",null,"N/A","TCEB3","c.1870-48_1870-47insA","NM_003198.2",null,null,"Intron","rs397733287",21.57,{"$nulls":8},"insA"]
["02160816100201_XZ",24083649,1,"T","CC",127,"0;0","45;79","0;0","1;0","1;0","2;0",0,0,0,0,2477,"Unknown",null,"N/A","TCEB3","c.2335+34T>C","NM_003198.2",null,null,"Intron","rs2076346",97.64,{"$nulls":4},0.2929,0.5169,"C",0.2929,"C",0.2929]
["02160816100201_XZ",24171543,1,"C","CG",60,"0;0","18;16","18;8","0;0","0;0","0;0",0,0,0,0,1312,"Unknown",null,"N/A","N/A","c.*638+24C>G",{"$nulls":3},"Intron","rs4649119",43.33,{"$nulls":6},"G",0.3425,"G",0.3425]
["02160816100201_XZ",24180962,1,"T","CT",239,"0;0","59;50","0;0","69;61","0;0","0;0",0,1,0,0,3419,"Nonsynonymous","1.AR","FUCOSIDOSIS (OMIM:230000)","FUCA1","c.857A>G","NM_000147.4","CDS5","p.Q286R","Exon","rs13551",45.61,0.2514,0.2465,0.2791,0.2563,{"$nulls":4},"G",{"$nulls":6},"D","B","B","P",0.515,"Benign","FU1/FU2_POLYMORPHISM"]
["02160816100201_XZ",25168124,1,"G","CG",135,"0;0","42;37","30;26","0;0","0;0","0;0",0,0,0,0,533,"Unknown",null,"N/A","CLIC4","c.*696G>C","NM_013943.2",null,null,"Intron","rs9259",58.52,{"$nulls":6},"G",0.4852,"C",0.5148]
["02160816100201_XZ",25168431,1,"A","AT",68,"16;14","0;0","0;0","21;17","0;0","0;0",0,0,0,0,231,"Unknown",null,"N/A","CLIC4","c.*1003A>T","NM_013943.2",null,null,"Intron","rs12036492",55.88,{"$nulls":6},"T",0.0647,"T",0.0647]
["02160816100201_XZ",25168714,1,"G","GT",56,"0;0","0;0","13;15","12;16","0;1","0;0",0,0,0,0,2,"Unknown",null,"N/A","CLIC4","c.*1286G>T","NM_013943.2",null,null,"Intron","rs189128687",50,{"$nulls":6},"T",0.0007987,"T",0.0007987]
["02160816100201_XZ",25169634,1,"A","AG",81,"27;16","0;0","23;15","0;0","0;0","0;0",0,0,0,0,469,"Unknown",null,"N/A","CLIC4","c.*2206A>G","NM_013943.2",null,null,"Intron","rs12439",46.91,{"$nulls":6},"G",0.4006,"G",0.4006]
["02160816100201_XZ",25169875,1,"C","AA",91,"36;53","0;1","1;0","0;0","0;0","0;0",0,0,0,0,673,"Unknown",null,"N/A","CLIC4","c.*2447C>A","NM_013943.2",null,null,"Intron","rs4649025",97.8,{"$nulls":6},"C",0.05691,"A",0.9431]
["02160816100201_XZ",25889632,1,"T","CT",181,"0;0","26;49","1;0","38;67","0;0","0;0",0,0,0,0,5496,"Nonsynonymous",null,"HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIV... (OMIM:603813)","LDLRAP1","c.604T>C","NM_015627.2","CDS6","p.S202P","Exon","rs6687605",41.44,0.4588,0.5,0.4995,0.4507,null,null,"C",0.4349,"C",0.4349,"CM168212","NM_015627.2:c.604T-C","missense/nonsense","DP","Plateletvolume, association with","T","B","B","P",-4.093,".","."]
["02160816100201_XZ",25889672,1,"G","AG",135,"16;36","0;0","30;52","0;1","0;0","0;0",0,0,0,0,5366,"Unknown",null,"HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIV... (OMIM:603813)","LDLRAP1","c.616+28G>A","NM_015627.2",null,null,"Intron","rs6688931",38.52,{"$nulls":4},0.4165,0.4415,"A",0.4165,"A",0.4165]
["02160816100201_XZ",25890189,1,"A","AG",255,"73;49","0;1","87;45","0;0","0;0","0;0",0,0,0,0,5519,"Synonymous",null,"HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIV... (OMIM:603813)","LDLRAP1","c.654A>G","NM_015627.2","CDS7","p.T218T","Exon","rs28969504",51.76,{"$nulls":4},0.5863,0.4435,"A",0.4137,"G",0.5863]
["02160816100201_XZ",25893928,1,"T","delT",230,"1;0","0;0","0;0","74;62","0;0","45;48",0,0,0,0,1073,"Unknown",null,"HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIV... (OMIM:603813)","LDLRAP1","c.*449delT","NM_015627.2",null,null,"Intron","rs397860393",40.43,{"$nulls":8},"delT"]
["02160816100201_XZ",25894469,1,"A","insTG",325,"128;182","0;0","0;0","10;5","117;176","0;0",0,0,0,0,1693,"Unknown",null,"HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIV... (OMIM:603813)","LDLRAP1","c.*985_*986insTG","NM_015627.2",null,null,"Intron","rs10635955",90.15,{"$nulls":8},"insTG"]
["02160816100201_XZ",25894853,1,"G","GT",260,"0;0","0;0","87;64","54;55","0;0","0;0",0,0,0,0,896,"Unknown",null,"HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIV... (OMIM:603813)","LDLRAP1","c.*1370G>T","NM_015627.2",null,null,"Intron","rs11563",41.92,{"$nulls":6},"G",0.4289,"T",0.5711]
["02160816100201_XZ",25895238,1,"C","CT",211,"0;0","37;55","0;0","46;73","0;0","0;0",0,0,0,0,952,"Unknown",null,"HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIV... (OMIM:603813)","LDLRAP1","c.*1755C>T","NM_015627.2",null,null,"Intron","rs7491",56.4,{"$nulls":6},"C",0.4307,"T",0.5693]
["02160816100201_XZ",25895406,1,"C","CT",145,"0;0","24;45","0;0","30;46","0;0","0;0",0,0,0,0,964,"Unknown",null,"N/A","N/A","c.*1894+29C>T",{"$nulls":3},"Intron","rs3924236",52.41,{"$nulls":6},"C",0.4613,"T",0.5387]
["02160816100201_XZ",26131654,1,"G","AA",274,"160;114","0;0","0;0","0;0","0;0","0;0",0,0,0,0,8015,"Nonsynonymous","1.AR/2.AD（散发病例）","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)","SEPN1","c.425G>A","NM_020451.2","CDS4","p.C142Y","Exon","rs7349185",100,0.8333,0.9231,0.8142,0.9416,0.8419,0.9395,"G",0.1581,"A",0.8419,{"$nulls":5},"T","B","B","P",-0.521,"Benign","not_specified"]
["02160816100201_XZ",26138136,1,"C","AA",221,"103;114","1;3","0;0","0;0","0;0","0;0",0,0,0,0,7902,"Unknown","1.AR/2.AD（散发病例）","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)","SEPN1","c.1093-46C>A","NM_020451.2",null,null,"Intron","rs760598",98.19,{"$nulls":4},0.747,0.9683,"C",0.253,"A",0.747]
["02160816100201_XZ",26138262,1,"T","CC",178,"0;0","86;89","0;0","0;2","0;0","1;0",0,0,0,0,8135,"Synonymous","1.AR/2.AD（散发病例）","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)","SEPN1","c.1173T>C","NM_020451.2","CDS9","p.P391P","Exon","rs760597",98.31,{"$nulls":4},0.7919,0.9683,"T",0.2081,"C",0.7919]
["02160816100201_XZ",26139137,1,"C","TT",180,"0;0","0;3","0;0","112;65","0;0","0;0",0,0,0,0,7871,"Unknown","1.AR/2.AD（散发病例）","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)","SEPN1","c.1282-41C>T","NM_020451.2",null,null,"Intron","rs10902685",98.33,{"$nulls":4},0.6977,0.9683,"C",0.3023,"T",0.6977]
["02160816100201_XZ",26140573,1,"C","AA",378,"169;209","0;0","0;0","0;0","0;0","0;0",0,0,0,0,8136,"Nonsynonymous","1.AR/2.AD（散发病例）","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)","SEPN1","c.1506C>A","NM_020451.2","CDS12","p.N502K","Exon","rs2294228",100,0.7143,0.9598,0.7729,0.9643,0.6975,0.9683,"C",0.3025,"A",0.6975,{"$nulls":5},"D,T","B","B","P",0.561,"Benign","not_specified"]
["02160816100201_XZ",26143705,1,"T","insTTTTG",145,"0;0","0;0","0;0","78;67","47;50","0;0",0,0,0,0,1982,"Unknown","1.AR/2.AD（散发病例）","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)","SEPN1","c.*1515_*1516insTTTTG","NM_020451.2",null,null,"Intron","rs3033477,rs397712756,rs71761312",66.9,{"$nulls":8},"insTTTTG"]
["02160816100201_XZ",26143821,1,"T","CC",33,"0;0","2;30","0;1","0;0","0;0","0;0",0,0,0,0,1783,"Unknown","1.AR/2.AD（散发病例）","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)","SEPN1","c.*1612T>C","NM_020451.2",null,null,"Intron","rs3203750",96.97,{"$nulls":6},"T",0.237,"C",0.763]
["02160816100201_XZ",26143931,1,"T","CC",70,"0;0","56;13","0;0","0;1","0;0","0;0",0,0,0,0,1801,"Unknown","1.AR/2.AD（散发病例）","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)","SEPN1","c.*1722T>C","NM_020451.2",null,null,"Intron","rs4659383",98.57,{"$nulls":6},"T",0.1378,"C",0.8622]
["02160816100201_XZ",26144438,1,"C","delC",267,"0;0","7;4","0;0","5;1","0;0","123;127",0,0,0,0,2847,"Unknown","1.AR/2.AD（散发病例）","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)","SEPN1","c.*2236delC","NM_020451.2",null,null,"Intron","rs371383269,rs397752421,rs570257085",93.63,{"$nulls":8},"delC"]
["02160816100201_XZ",26377880,1,"G","AA",283,"141;135","0;0","4;3","0;0","0;0","0;0",0,1,0,0,825,"Unknown",null,"N/A","TRIM63","c.*484C>T","NM_032588.3",null,null,"Intron","rs1135253",97.53,{"$nulls":8},"T"]
["02160816100201_XZ",26378002,1,"C","TT",175,"0;0","0;1","0;0","64;110","0;0","0;0",0,1,0,0,939,"Unknown",null,"N/A","TRIM63","c.*362G>A","NM_032588.3",null,null,"Intron","rs1135251",99.43,{"$nulls":8},"A"]
["02160816100201_XZ",26380394,1,"C","CT",299,"0;0","76;58","0;0","87;76","0;0","1;1",0,1,0,0,241,"Synonymous",null,"N/A","TRIM63","c.1041G>A","NM_032588.3","CDS8","p.G347G","Exon","rs61749354",54.52,{"$nulls":8},"A"]
["02160816100201_XZ",27426219,1,"A","AG",386,"108;90","0;0","104;84","0;0","0;0","0;0",0,1,0,0,290,"Unknown",null,"LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)","SLC9A1","c.*579T>C","NM_003047.4",null,null,"Intron","rs5810",48.7,{"$nulls":8},"C"]
["02160816100201_XZ",27426796,1,"T","CC",210,"0;0","142;67","0;0","0;1","0;0","0;0",0,1,0,0,4198,"Splice",null,"LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)","SLC9A1","c.*2A>G","NM_003047.4",null,"Splice","Splice","rs4266911",99.52,{"$nulls":8},"G"]
["02160816100201_XZ",27427041,1,"T","CC",473,"0;0","230;240","1;1","0;1","0;0","0;0",0,1,0,0,4208,"Synonymous",null,"LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)","SLC9A1","c.2205A>G","NM_003047.4","CDS12","p.E735E","Exon","rs4418629",99.37,{"$nulls":8},"G"]
["02160816100201_XZ",27428321,1,"T","CT",147,"1;0","23;29","0;0","32;62","0;0","0;0",0,1,0,0,665,"Unknown",null,"LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)","SLC9A1","c.1936-4A>G","NM_003047.4",null,null,"Intron","rs6598870",35.37,{"$nulls":8},"G"]
["02160816100201_XZ",27435976,1,"C","CG",161,"0;0","42;16","77;25","1;0","0;0","0;0",0,0,0,0,681,"Unknown",null,"LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)","SLC9A1","c.1064+42G>C","NM_003047.4",null,null,"Intron","rs3738689",63.35,{"$nulls":8},"C"]
["02160816100201_XZ",27480757,1,"A","AG",394,"107;102","0;0","85;100","0;0","0;0","0;0",0,1,0,0,678,"Synonymous",null,"LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)","SLC9A1","c.69T>C","NM_003047.4","CDS1","p.V23V","Exon","rs34306208",46.95,{"$nulls":8},"C"]
["02160816100201_XZ",27481530,1,"A","AG",105,"16;35","0;0","22;32","0;0","0;0","0;0",0,1,0,0,280,"Unknown",null,"LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)","SLC9A1","c.-705T>C","NM_003047.4",null,null,"Intron","rs7542969",51.43,{"$nulls":8},"C"]
["02160816100201_XZ",35220730,1,"A","AG",159,"34;30","0;0","47;47","0;1","0;0","0;0",0,0,0,0,532,"Unknown",null,"N/A","GJB5","c.-91A>G","NM_005268.3",null,null,"Intron","rs2275229",59.12,{"$nulls":6},"A",0.4585,"G",0.5415]
["02160816100201_XZ",35223913,1,"A","AC",310,"88;71","71;80","0;0","0;0","0;0","0;0",0,0,0,0,518,"Unknown",null,"N/A","GJB5","c.*160A>C","NM_005268.3",null,null,"Intron","rs28695349",48.71,{"$nulls":6},"C",0.08287,"C",0.08287]
["02160816100201_XZ",35228604,1,"C","CT",465,"0;1","120;102","1;0","143;98","0;0","0;0",0,0,0,0,334,"Unknown","1.AD，AR（少）","ERYTHROKERATODERMIA VARIABILIS ET PROGRE... (OMIM:133200)","GJB4","c.*948C>T","NM_153212.2",null,null,"Intron","rs1985283",51.83,{"$nulls":6},"T",0.2708,"T",0.2708]
["02160816100201_XZ",35228693,1,"C","AC",586,"170;129","151;131","0;1","0;3","0;0","0;1",0,0,0,0,5,"Unknown","1.AD，AR（少）","ERYTHROKERATODERMIA VARIABILIS ET PROGRE... (OMIM:133200)","GJB4","c.*1037C>A","NM_153212.2",null,null,"Intron","rs1123974",51.02,{"$nulls":6},"A",0.06869,"A",0.06869]
["02160816100201_XZ",35251219,1,"C","AC",346,"77;89","89;91","0;0","0;0","0;0","0;0",0,0,0,1,323,"Unknown","略","DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290), ERYTHROKERATODERMIA VARIABILIS ET PROGRE... (OMIM:133200), DEAFNESS, AUTOSOMAL DOMINANT 2B (OMIM:612644)","GJB3","c.*43C>A","NM_024009.2",null,null,"Intron","rs41266429",47.98,{"$nulls":4},0.0885,0.0347,"A",0.08846,"A",0.08846]
["02160816100201_XZ",35251229,1,"G","AG",349,"73;93","0;0","86;96","1;0","0;0","0;0",0,0,0,1,2456,"Unknown","略","DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290), ERYTHROKERATODERMIA VARIABILIS ET PROGRE... (OMIM:133200), DEAFNESS, AUTOSOMAL DOMINANT 2B (OMIM:612644)","GJB3","c.*53G>A","NM_024009.2",null,null,"Intron","rs476220",47.56,{"$nulls":6},"A",0.404,"A",0.404]
["02160816100201_XZ",35251545,1,"G","CG",249,"0;0","73;67","67;42","0;0","0;0","0;0",0,0,0,0,814,"Unknown","略","DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290), ERYTHROKERATODERMIA VARIABILIS ET PROGRE... (OMIM:133200), DEAFNESS, AUTOSOMAL DOMINANT 2B (OMIM:612644)","GJB3","c.*369G>C","NM_024009.2",null,null,"Intron","rs2236214",56.22,{"$nulls":6},"C",0.2582,"C",0.2582]
["02160816100201_XZ",35251610,1,"G","AG",264,"68;55","1;0","85;55","0;0","0;0","0;0",0,0,0,0,2,"Unknown","略","DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290), ERYTHROKERATODERMIA VARIABILIS ET PROGRE... (OMIM:133200), DEAFNESS, AUTOSOMAL DOMINANT 2B (OMIM:612644)","GJB3","c.*434G>A","NM_024009.2",null,null,"Intron","rs567318744",46.59,{"$nulls":6},"A",0.002596,"A",0.002596]
["02160816100201_XZ",35251669,1,"C","CT",352,"0;0","111;73","1;0","96;71","0;0","0;0",0,0,0,0,5,"Unknown","略","DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290), ERYTHROKERATODERMIA VARIABILIS ET PROGRE... (OMIM:133200), DEAFNESS, AUTOSOMAL DOMINANT 2B (OMIM:612644)","GJB3","c.*493C>T","NM_024009.2",null,null,"Intron","rs13774",47.44,{"$nulls":6},"T",0.0613,"T",0.0613]
["02160816100201_XZ",35251735,1,"G","CG",392,"1;0","109;89","97;96","0;0","0;1","0;0",0,0,0,0,783,"Unknown","略","DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290), ERYTHROKERATODERMIA VARIABILIS ET PROGRE... (OMIM:133200), DEAFNESS, AUTOSOMAL DOMINANT 2B (OMIM:612644)","GJB3","c.*559G>C","NM_024009.2",null,null,"Intron","rs9118",50.51,{"$nulls":6},"C",0.2129,"C",0.2129]
["02160816100201_XZ",35259961,1,"A","GG",421,"1;0","0;0","216;204","0;0","0;0","0;0",0,0,0,0,5110,"Synonymous","N/A","N/A","GJA4","c.147A>G","NM_002060.2","CDS1","p.Q49Q","Exon","rs1764390",99.76,{"$nulls":6},"A",0.3786,"G",0.6214]
["02160816100201_XZ",35260202,1,"G","AG",254,"51;71","0;0","53;77","0;0","0;0","0;2",0,0,0,0,22,"Nonsynonymous","N/A","N/A","GJA4","c.388G>A","NM_002060.2","CDS1","p.V130I","Exon","rs41266431",48.03,0.0751,0,0.0954,0.0004,0.0541,null,"A",0.05411,"A",0.05411,{"$nulls":5},"T","B","B","P",-0.471,".","."]
["02160816100201_XZ",35260929,1,"G","AA",223,"105;117","0;0","1;0","0;0","0;0","0;0",0,0,0,0,3629,"Unknown","N/A","N/A","GJA4","c.*113G>A","NM_002060.2",null,null,"Intron","rs3543",99.55,{"$nulls":6},"G",0.3444,"A",0.6556]
["02160816100201_XZ",35261045,1,"A","delAG",332,"12;2","0;0","0;0","1;0","0;0","183;134",0,0,0,0,1523,"Unknown","N/A","N/A","GJA4","c.*231_*232delAG","NM_002060.2",null,null,"Intron","rs3841825,rs397841736",95.48,{"$nulls":8},"delAG"]
["02160816100201_XZ",35261046,1,"G","-",336,"0;0","8;4","4;2","0;0","0;0","184;134",0,0,0,0,1519,"Unknown","N/A","N/A","GJA4","-","NM_002060.2",null,null,"Intron",null,94.64,{"$nulls":8},"-"]
["02160816100201_XZ",35261232,1,"C","GG",471,"0;0","1;5","190;275","0;0","0;0","0;0",0,0,0,0,621,"Unknown","N/A","N/A","GJA4","c.*416C>G","NM_002060.2",null,null,"Intron","rs705193",98.73,{"$nulls":6},"G",0.2843,"G",0.2843]
["02160816100201_XZ",35649605,1,"T","CT",86,"0;0","26;20","0;0","17;23","0;0","0;0",0,1,0,1,30,"Unknown","N/A","N/A","SFPQ","c.*452A>G","NM_005066.2",null,null,"Intron","rs115809018",53.49,{"$nulls":8},"G"]
["02160816100201_XZ",35649606,1,"G","AG",88,"26;21","0;0","17;24","0;0","0;0","0;0",0,1,0,1,30,"Unknown","N/A","N/A","SFPQ","c.*451C>T","NM_005066.2",null,null,"Intron","rs115174762",53.41,{"$nulls":8},"T"]
["02160816100201_XZ",35649811,1,"A","delA",43,"0;0","0;0","0;0","2;0","0;0","24;17",0,0,0,0,975,"Unknown","N/A","N/A","SFPQ","c.*246delT","NM_005066.2",null,null,"Intron","rs3835700,rs386630285,rs397841092",95.35,{"$nulls":8},"delT"]
["02160816100201_XZ",35650002,1,"T","CT",119,"0;0","35;27","0;0","33;23","0;0","1;0",0,1,0,0,4390,"Unknown","N/A","N/A","SFPQ","c.*55A>G","NM_005066.2",null,null,"Intron","rs3768339",52.1,{"$nulls":8},"G"]
["02160816100201_XZ",35652770,1,"C","CG",124,"0;0","24;38","25;37","0;0","0;0","0;0",0,0,0,0,2016,"Unknown","N/A","N/A","SFPQ","c.1864+34G>C","NM_005066.2",null,null,"Intron","rs3738697",50,{"$nulls":8},"C"]
["02160816100201_XZ",35654765,1,"G","AA",186,"90;96","0;0","0;0","0;0","0;0","0;0",0,1,0,0,6047,"Unknown","N/A","N/A","SFPQ","c.1612+22C>T","NM_005066.2",null,null,"Intron","rs2088481",100,{"$nulls":8},"T"]
["02160816100201_XZ",35654777,1,"G","AA",180,"82;97","0;0","0;0","1;0","0;0","0;0",0,1,0,0,6046,"Unknown","N/A","N/A","SFPQ","c.1612+10C>T","NM_005066.2",null,null,"Intron","rs2088482",99.44,{"$nulls":8},"T"]
["02160816100201_XZ",35656064,1,"T","AA",16,"12;4","0;0","0;0","0;0","0;0","0;0",0,1,0,0,5908,"Unknown","N/A","N/A","SFPQ","c.1415+35A>T","NM_005066.2",null,null,"Intron","rs11264114",100,{"$nulls":8},"T"]
["02160816100201_XZ",35657811,1,"A","delAT",26,"8;2","0;0","0;0","0;0","0;0","10;6",0,0,0,0,3674,"Unknown","N/A","N/A","SFPQ","c.828+11_828+12delAT","NM_005066.2",null,null,"Intron","rs142470364",61.54,{"$nulls":8},"delAT"]
["02160816100201_XZ",35657812,1,"T","-",26,"0;0","0;0","0;0","8;2","0;0","10;6",0,0,0,0,3666,"Unknown","N/A","N/A","SFPQ","-","NM_005066.2",null,null,"Intron",null,61.54,{"$nulls":8},"-"]
["02160816100201_XZ",35657874,1,"G","CC",40,"0;0","25;15","0;0","0;0","0;0","0;0",0,1,0,0,5323,"Synonymous","N/A","N/A","SFPQ","c.777C>G","NM_005066.2","CDS1","p.P259P","Exon","rs118141562",100,{"$nulls":8},"G"]
["02160816100201_XZ",35658330,1,"G","GT",168,"0;0","0;0","40;43","46;39","0;0","0;0",0,1,0,0,184,"Synonymous","N/A","N/A","SFPQ","c.321C>A","NM_005066.2","CDS1","p.S107S","Exon","rs72908998",50.6,{"$nulls":8},"A"]
["02160816100201_XZ",35658492,1,"C","CT",134,"0;0","26;26","0;0","31;51","0;0","0;0",0,1,0,0,183,"Synonymous","N/A","N/A","SFPQ","c.159G>A","NM_005066.2","CDS1","p.Q53Q","Exon","rs76077726",61.19,{"$nulls":8},"A"]
["02160816100201_XZ",38000185,1,"G","AG",233,"52;53","0;0","64;62","0;2","0;0","0;0",0,1,0,0,1906,"Unknown","N/A","PSYCHOMOTOR RETARDATION, EPILEPSY, AND C... (OMIM:614501)","SNIP1","c.*3164C>T","NM_024700.3",null,null,"Intron","rs7515306",45.06,{"$nulls":8},"T"]
["02160816100201_XZ",38002068,1,"C","CT",243,"1;1","43;64","0;0","52;82","0;0","0;0",0,1,0,0,1070,"Unknown","N/A","PSYCHOMOTOR RETARDATION, EPILEPSY, AND C... (OMIM:614501)","SNIP1","c.*1281G>A","NM_024700.3",null,null,"Intron","rs41267303",55.14,{"$nulls":8},"A"]
["02160816100201_XZ",38006359,1,"A","AG",248,"41;79","0;0","41;85","0;0","0;0","1;1",0,1,0,0,7761,"Unknown","N/A","PSYCHOMOTOR RETARDATION, EPILEPSY, AND C... (OMIM:614501)","SNIP1","c.328-3T>C","NM_024700.3",null,null,"Intron","rs2174769",50.81,{"$nulls":8},"C"]
["02160816100201_XZ",39339999,1,"T","insT",57,"0;0","1;0","4;0","25;26","17;17","1;0",0,0,0,0,41,"Unknown",null,"N/A","GJA9-MYCBP","c.*224_*225insA","NR_037633.1",null,null,"Intron","rs57929942",59.65,{"$nulls":8},"insA"]
["02160816100201_XZ",39340607,1,"A","AG",278,"68;79","0;0","54;75","0;1","0;0","1;0",0,1,0,0,458,"Synonymous",null,"N/A","GJA9","c.1164T>C","NM_030772.4","CDS1","p.R388R","Exon","rs16825625",46.4,{"$nulls":8},"C"]
["02160816100201_XZ",40506239,1,"G","AG",112,"47;20","0;0","29;16","0;0","0;0","0;0",0,0,0,0,58,"Unknown",null,"N/A","CAP1","c.-229-16G>A","NM_006367.3",null,null,"Intron","rs3131687",59.82,{"$nulls":6},"A",0.4623,"A",0.4623]
["02160816100201_XZ",40533266,1,"T","GG",120,"0;0","0;0","48;72","0;0","0;0","0;0",0,0,0,0,3094,"Nonsynonymous",null,"N/A","CAP1","c.685T>G","NM_006367.3","CDS7","p.C229G","Exon","rs11207440",100,1,1,1,1,1,1,"T",0,"G",1,{"$nulls":5},"T","B","B","P",-0.127,".","."]
["02160816100201_XZ",40533287,1,"T","GG",91,"0;0","1;0","29;61","0;0","0;0","0;0",0,0,0,0,3095,"Nonsynonymous",null,"N/A","CAP1","c.706T>G","NM_006367.3","CDS7","p.C236G","Exon","rs6665926",98.9,0.9995,1,1,1,1,1,"T",0,"G",1,{"$nulls":5},"T","B","B","P",-0.127,".","."]
["02160816100201_XZ",40533315,1,"T","GG",71,"0;0","1;0","22;48","0;0","0;0","0;0",0,0,0,1,3093,"Nonsynonymous",null,"N/A","CAP1","c.734T>G","NM_006367.3","CDS7","p.I245S","Exon","rs6665933",98.59,1,1,1,1,1,1,"T",0,"G",1,{"$nulls":5},"T","B","B","P",-0.127,".","."]
["02160816100201_XZ",40533320,1,"T","GG",65,"0;0","0;0","19;46","0;0","0;0","0;0",0,0,0,1,3094,"Nonsynonymous",null,"N/A","CAP1","c.739T>G","NM_006367.3","CDS7","p.C247G","Exon","rs6665936",100,0.9991,1,1,1,1,1,"T",0,"G",1,{"$nulls":5},"T","B","B","P",-0.127,".","."]
["02160816100201_XZ",40533326,1,"T","GG",68,"0;0","0;0","23;45","0;0","0;0","0;0",0,0,0,1,3093,"Nonsynonymous",null,"N/A","CAP1","c.745T>G","NM_006367.3","CDS7","p.Y249D","Exon","rs6665937",100,0.9991,1,1,1,1,1,"T",0,"G",1,{"$nulls":5},"T","B","B","P",-0.127,".","."]
["02160816100201_XZ",40533347,1,"T","GG",66,"0;0","0;0","28;38","0;0","0;0","0;0",0,0,0,0,3093,"Nonsynonymous",null,"N/A","CAP1","c.766T>G","NM_006367.3","CDS7","p.S256A","Exon","rs6665944",100,1,1,1,1,1,1,"T",0,"G",1,{"$nulls":5},"T","B","B","P",-0.127,".","."]
["02160816100201_XZ",40536075,1,"G","insT",340,"1;0","0;1","164;171","1;2","160;162","0;0",0,1,0,0,3078,"Unknown",null,"N/A","CAP1","c.1118-28_1118-27insT","NM_006367.3",null,null,"Intron","rs58190778",94.71,{"$nulls":8},"insT"]
["02160816100201_XZ",40537208,1,"G","AG",151,"32;39","0;0","44;35","0;1","0;0","0;0",0,0,0,0,165,"Unknown",null,"N/A","CAP1","c.*3G>A","NM_006367.3",null,null,"Intron","rs138936676",47.02,{"$nulls":4},0.0088,0.0407,"A",0.008786,"A",0.008786]
["02160816100201_XZ",40537940,1,"A","AC",30,"10;4","15;1","0;0","0;0","0;0","0;0",0,1,0,1,565,"Unknown",null,"N/A","CAP1","c.*735A>C","NM_006367.3",null,null,"Intron","rs72668730",53.33,{"$nulls":8},"C"]
["02160816100201_XZ",40537941,1,"A","insC",31,"26;5","0;0","0;0","0;0","9;4","0;0",0,0,0,1,534,"Unknown",null,"N/A","CAP1","c.*735_*736insC","NM_006367.3",null,null,"Intron",null,41.94,{"$nulls":8},"insC"]
["02160816100201_XZ",40538101,1,"G","AG",158,"39;46","0;0","26;45","1;0","0;0","0;1",0,0,0,0,251,"Unknown",null,"N/A","CAP1","c.*896G>A","NM_006367.3",null,null,"Intron","rs7300",53.8,{"$nulls":6},"A",0.1623,"A",0.1623]
["02160816100201_XZ",40737516,1,"T","GG",28,"0;0","0;0","20;8","0;0","0;0","0;0",0,0,0,0,7476,"Unknown","1.AR/2.AR/","MANDIBULOACRAL DYSPLASIA WITH TYPE B LIP... (OMIM:608612), RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)","ZMPSTE24","c.628-50T>G","NM_005857.4",null,null,"Intron","rs6677717",100,{"$nulls":4},0.9932,1,"T",0.006789,"G",0.9932]
["02160816100201_XZ",40759064,1,"C","CT",35,"0;0","9;3","0;0","15;8","0;0","0;0",0,0,0,0,621,"Unknown","1.AR/2.AR/","MANDIBULOACRAL DYSPLASIA WITH TYPE B LIP... (OMIM:608612), RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)","ZMPSTE24","c.*723C>T","NM_005857.4",null,null,"Intron","rs10489431",65.71,{"$nulls":6},"T",0.1262,"T",0.1262]
["02160816100201_XZ",40759231,1,"A","AG",62,"12;17","0;0","16;17","0;0","0;0","0;0",0,0,0,0,620,"Unknown","1.AR/2.AR/","MANDIBULOACRAL DYSPLASIA WITH TYPE B LIP... (OMIM:608612), RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)","ZMPSTE24","c.*890A>G","NM_005857.4",null,null,"Intron","rs10489432",53.23,{"$nulls":6},"G",0.1256,"G",0.1256]
["02160816100201_XZ",41249810,1,"C","AC",8,"3;0","5;0","0;0","0;0","0;0","0;0",1,1,0,0,1,"Synonymous",null,"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:600101)","KCNQ4","c.45C>A","NM_004700.3","CDS1","p.P15P","Exon",null,37.5,{"$nulls":8},"A"]
["02160816100201_XZ",41282919,1,"C","CT",235,"0;0","88;57","0;0","57;32","0;0","0;1",0,0,0,1,3505,"Unknown",null,"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:600101)","KCNQ4","c.315-18C>T","NM_004700.3",null,null,"Intron","rs13374844",37.87,{"$nulls":4},0.2005,0.3363,"T",0.2005,"T",0.2005]
["02160816100201_XZ",41282921,1,"C","CT",241,"0;0","92;58","0;0","58;33","0;0","0;0",0,0,0,1,3507,"Unknown",null,"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:600101)","KCNQ4","c.315-16C>T","NM_004700.3",null,null,"Intron","rs13374845",37.76,{"$nulls":4},0.1985,0.3363,"T",0.1985,"T",0.1985]
["02160816100201_XZ",41284366,1,"G","CG",42,"0;0","3;15","6;18","0;0","0;0","0;0",0,0,0,0,4825,"Unknown",null,"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:600101)","KCNQ4","c.708+14G>C","NM_004700.3",null,null,"Intron","rs2361660",42.86,{"$nulls":4},0.5675,0.4841,"G",0.4325,"C",0.5675]
["02160816100201_XZ",41285087,1,"T","CT",377,"0;0","91;82","0;0","108;96","0;0","0;0",0,0,0,0,4665,"Synonymous",null,"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:600101)","KCNQ4","c.777T>C","NM_004700.3","CDS5","p.A259A","Exon","rs4660468",45.89,0.5618,0.4231,0.6509,0.4488,0.5633,0.4683,"T",0.4367,"C",0.5633,{"$nulls":5},".",".",".","P",-1.109,"Benign","not_specified"]
["02160816100201_XZ",41285553,1,"T","CT",413,"0;0","105;88","0;0","128;92","0;0","0;0",0,0,0,0,1051,"Synonymous",null,"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:600101)","KCNQ4","c.841T>C","NM_004700.3","CDS6","p.L281L","Exon","rs55737429",46.73,0.0453,0.0577,0.0388,0.0575,0.0381,0.0635,"C",0.03814,"C",0.03814,{"$nulls":5},".",".",".","D",-0.899,"Benign","not_specified"]
["02160816100201_XZ",41288086,1,"T","GT",60,"1;0","0;0","0;16","17;26","0;0","0;0",0,1,0,1,5280,"Unknown",null,"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:600101)","KCNQ4","c.1130+12T>G","NM_004700.3",null,null,"Intron",null,26.67,{"$nulls":8},"G"]
["02160816100201_XZ",41288092,1,"T","GT",47,"0;0","0;0","0;16","13;18","0;0","0;0",0,1,0,1,6135,"Unknown",null,"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:600101)","KCNQ4","c.1130+18T>G","NM_004700.3",null,null,"Intron",null,34.04,{"$nulls":8},"G"]
["02160816100201_XZ",41288098,1,"T","GT",35,"1;0","0;0","0;16","9;9","0;0","0;0",0,1,0,1,6379,"Unknown",null,"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:600101)","KCNQ4","c.1130+24T>G","NM_004700.3",null,null,"Intron",null,45.71,{"$nulls":8},"G"]
["02160816100201_XZ",41288102,1,"T","GT",30,"0;0","0;0","0;16","9;5","0;0","0;0",0,1,0,1,6588,"Unknown",null,"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:600101)","KCNQ4","c.1130+28T>G","NM_004700.3",null,null,"Intron","rs376712113",53.33,{"$nulls":6},"G",0.003994,"G",0.003994]
["02160816100201_XZ",41298652,1,"T","CC",142,"0;0","80;62","0;0","0;0","0;0","0;0",0,0,0,0,6881,"Unknown",null,"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:600101)","KCNQ4","c.1514-34T>C","NM_004700.3",null,null,"Intron","rs913378",100,{"$nulls":6},"T",0.2614,"C",0.7386]
["02160816100201_XZ",41305217,1,"A","TT",485,"0;3","0;2","1;0","241;238","0;0","0;0",0,0,0,0,1350,"Unknown",null,"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:600101)","KCNQ4","c.*1022A>T","NM_004700.3",null,null,"Intron","rs4660470",98.76,{"$nulls":6},"A",0.146,"T",0.854]
["02160816100201_XZ",41306135,1,"C","CG",238,"0;0","48;94","36;60","0;0","0;0","0;0",0,0,0,0,117,"Unknown",null,"N/A","N/A","c.*1929+11C>G",{"$nulls":3},"Intron","rs41285904",40.34,{"$nulls":6},"G",0.03355,"G",0.03355]
["02160816100201_XZ",41950312,1,"T","CC",181,"0;0","83;97","0;0","0;1","0;0","0;0",0,1,0,0,6675,"Unknown","N/A","N/A","EDN2","c.-40A>G","NM_001956.3",null,null,"Intron","rs2984691",99.45,{"$nulls":8},"G"]
["02160816100201_XZ",45285664,1,"G","AA",198,"132;66","0;0","0;0","0;0","0;0","0;0",0,1,0,0,938,"Unknown","N/A","BASAL CELL NEVUS SYNDROME (OMIM:109400), MEDULLOBLASTOMA (OMIM:155255), BASAL CELL CARCINOMA, SUSCEPTIBILITY TO,... (OMIM:605462)","PTCH2","c.*149+2274C>T","NM_003738.4",null,null,"Intron","rs12036829",100,{"$nulls":8},"T"]
["02160816100201_XZ",46655158,1,"T","CC",169,"0;0","97;71","0;0","0;1","0;0","0;0",0,1,0,0,8430,"Nonsynonymous","1.AR/2.AR/3.AR","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:613151), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:253280), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (L... (OMIM:613157)","POMGNT1","c.1867A>G","NM_017739.3","CDS20","p.M623V","Exon","rs6659553",99.41,0.9519,1,0.9835,1,{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-0.119,".","."]
["02160816100201_XZ",46659104,1,"T","CT",297,"0;0","59;69","0;1","72;95","0;0","1;0",0,1,0,0,2013,"Unknown","1.AR/2.AR/3.AR","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:613151), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:253280), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (L... (OMIM:613157)","POMGNT1","c.1027-44A>G","NM_017739.3",null,null,"Intron","rs7527668",43.1,{"$nulls":8},"G"]
["02160816100201_XZ",46660295,1,"T","CT",192,"0;0","44;43","0;0","57;48","0;0","0;0",0,1,0,0,2070,"Synonymous","1.AR/2.AR/3.AR","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:613151), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:253280), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (L... (OMIM:613157)","POMGNT1","c.681A>G","NM_017739.3","CDS7","p.K227K","Exon","rs2292487",45.31,0.2995,0.1766,0.3548,0.1471,{"$nulls":4},"G",{"$nulls":6},"D",".",".","P",-0.215,".","."]
["02160816100201_XZ",47395196,1,"T","GG",10,"0;0","0;0","0;10","0;0","0;0","0;0",0,1,0,1,362,"Unknown","N/A","N/A","CYP4A11","c.*591A>C","NM_000778.3",null,null,"Intron","rs61784307",100,{"$nulls":8},"C"]
["02160816100201_XZ",47395199,1,"G","insGGT",9,"0;0","0;0","0;9","0;0","0;9","0;0",1,1,0,1,390,"Unknown","N/A","N/A","CYP4A11","c.*588_*589insACC","NM_000778.3",null,null,"Intron","rs201817867,rs542994764",100,{"$nulls":8},"insACC"]
["02160816100201_XZ",47395229,1,"T","CC",2,"0;0","0;2","0;0","0;0","0;0","0;0",1,1,0,1,367,"Unknown","N/A","N/A","CYP4A11","c.*558A>G","NM_000778.3",null,null,"Intron","rs9333046",100,{"$nulls":8},"G"]
["02160816100201_XZ",47395230,1,"G","AA",2,"0;2","0;0","0;0","0;0","0;0","0;0",1,1,0,1,367,"Unknown","N/A","N/A","CYP4A11","c.*557C>T","NM_000778.3",null,null,"Intron","rs9333045",100,{"$nulls":8},"T"]
["02160816100201_XZ",47395347,1,"T","CC",2,"0;0","2;0","0;0","0;0","0;0","0;0",1,1,0,0,681,"Unknown","N/A","N/A","CYP4A11","c.*440A>G","NM_000778.3",null,null,"Intron","rs11211405",100,{"$nulls":8},"G"]
["02160816100201_XZ",47395367,1,"C","TT",3,"0;0","0;0","0;0","3;0","0;0","0;0",1,1,0,0,64,"Unknown","N/A","N/A","CYP4A11","c.*420G>A","NM_000778.3",null,null,"Intron","rs796431427",100,{"$nulls":8},"A"]
["02160816100201_XZ",47395513,1,"C","TT",114,"0;1","0;4","1;0","90;18","0;0","0;0",0,1,0,0,1910,"Unknown","N/A","N/A","CYP4A11","c.*274G>A","NM_000778.3",null,null,"Intron","rs4660363",94.74,{"$nulls":8},"A"]
["02160816100201_XZ",47395973,1,"G","AA",275,"122;150","0;1","1;1","0;0","1;0","0;0",0,1,0,0,3831,"Synonymous","N/A","N/A","CYP4A11","c.1374C>T","NM_000778.3","CDS12","p.I458I","Exon","rs1126743",98.91,{"$nulls":8},"T"]
["02160816100201_XZ",47398743,1,"G","CC",200,"0;0","62;133","2;3","0;0","0;0","0;0",0,1,0,0,5256,"Unknown","N/A","N/A","CYP4A11","c.1223-24C>G","NM_000778.3",null,null,"Intron","rs3890011",97.5,{"$nulls":8},"G"]
["02160816100201_XZ",47400059,1,"A","GG",216,"1;0","0;0","122;92","1;0","0;0","0;0",0,1,0,0,3526,"Unknown","N/A","N/A","CYP4A11","c.898-21T>C","NM_000778.3",null,null,"Intron","rs9333012",99.07,{"$nulls":8},"C"]
["02160816100201_XZ",47402488,1,"T","delTGTG",72,"0;0","0;0","0;0","9;13","0;0","6;44",0,0,0,0,4789,"Unknown","N/A","N/A","CYP4A11","c.383-28_383-25delCACA","NM_000778.3",null,null,"Intron","rs35456301,rs60394588,rs67512144,rs763837425,rs771786106,rs772827262,rs773941113,rs775254581,rs879174056",69.44,{"$nulls":8},"delCACA"]
["02160816100201_XZ",47402489,1,"G","-",68,"1;0","0;0","7;10","0;0","0;0","6;44",0,0,0,0,5277,"Unknown","N/A","N/A","CYP4A11","-","NM_000778.3",null,null,"Intron",null,73.53,{"$nulls":8},"-"]
["02160816100201_XZ",47402490,1,"T","-",67,"0;0","0;0","1;0","7;12","0;0","6;41",0,0,0,0,5083,"Unknown","N/A","N/A","CYP4A11","-","NM_000778.3",null,null,"Intron","rs35456301,rs67512144,rs771786106,rs772827262,rs775254581,rs879174056",70.15,{"$nulls":8},"-"]
["02160816100201_XZ",47402491,1,"G","-",67,"1;0","0;0","6;9","1;3","0;0","6;41",0,0,1,0,5078,"Unknown","N/A","N/A","CYP4A11","-","NM_000778.3",null,null,"Intron",null,70.15,{"$nulls":8},"-"]
["02160816100201_XZ",53676448,1,"G","AA",209,"87;118","0;0","3;0","0;0","0;0","0;1",0,0,0,0,7428,"Nonsynonymous",null,"CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:600649), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:608836), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:255110)","CPT2","c.1102G>A","NM_000098.2","CDS4","p.V368I","Exon","rs1799821",98.09,0.5,0.7325,0.4834,0.7326,0.4131,0.7242,"A",0.4131,"A",0.4131,"CM139511","NM_000098.2:c.1102G-A","missense/nonsense","DP","Infuenzainfection-associated encephalopathy","T","B","B","P",-0.14,"Benign|Benign","not_specified|not_provided"]
["02160816100201_XZ",53679229,1,"A","AG",255,"57;76","0;1","59;61","0;0","0;0","1;0",0,0,0,0,1505,"Nonsynonymous",null,"CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:600649), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:608836), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:255110)","CPT2","c.1939A>G","NM_000098.2","CDS5","p.M647V","Exon","rs1799822",47.06,0.1282,0.0944,0.1617,0.0854,0.1004,0.0853,"G",0.1004,"G",0.1004,{"$nulls":5},"D","B","B","P",0.528,"Benign|Benign","not_specified|not_provided"]
["02160816100201_XZ",53679442,1,"A","AC",11,"1;7","0;3","0;0","0;0","0;0","0;0",0,1,0,1,3,"Unknown",null,"CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:600649), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:608836), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:255110)","CPT2","c.*175A>C","NM_000098.2",null,null,"Intron",null,27.27,{"$nulls":8},"C"]
["02160816100201_XZ",53679447,1,"A","insA",11,"1;10","0;0","0;0","0;0","0;4","0;0",0,1,0,1,6,"Unknown",null,"CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:600649), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:608836), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:255110)","CPT2","c.*184_*185insA","NM_000098.2",null,null,"Intron",null,36.36,{"$nulls":8},"insA"]
["02160816100201_XZ",53679457,1,"T","CT",10,"0;0","0;4","0;0","1;5","0;0","0;0",0,1,0,1,20,"Unknown",null,"CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:600649), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:608836), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:255110)","CPT2","c.*190T>C","NM_000098.2",null,null,"Intron",null,40,{"$nulls":8},"C"]
["02160816100201_XZ",53679458,1,"G","AG",10,"0;4","0;0","1;5","0;0","0;0","0;0",0,1,0,1,8,"Unknown",null,"CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:600649), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:608836), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:255110)","CPT2","c.*191G>A","NM_000098.2",null,null,"Intron",null,40,{"$nulls":8},"A"]
["02160816100201_XZ",53679461,1,"T","CT",10,"0;0","0;4","0;0","1;5","0;0","0;0",0,1,0,1,20,"Unknown",null,"CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:600649), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:608836), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:255110)","CPT2","c.*194T>C","NM_000098.2",null,null,"Intron",null,40,{"$nulls":8},"C"]
["02160816100201_XZ",53679565,1,"T","GT",9,"0;0","0;0","0;2","5;2","0;0","0;0",1,1,0,0,0,"Unknown",null,"CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:600649), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:608836), CARNITINE PALMITOYLTRANSFERASE II DEFICI... (OMIM:255110)","CPT2","c.*298T>G","NM_000098.2",null,null,"Intron",null,22.22,{"$nulls":8},"G"]
["02160816100201_XZ",53679878,1,"T","CT",85,"0;0","17;13","3;0","30;21","0;0","0;1",0,0,0,0,82,"Unknown",null,"N/A","N/A","c.*453T>C",{"$nulls":3},"Intron","rs1056438",35.29,{"$nulls":6},"C",0.2282,"C",0.2282]
["02160816100201_XZ",53708509,1,"A","delAT",9,"2;2","0;0","0;0","0;0","0;0","1;4",1,0,0,0,118,"Unknown","N/A","N/A","LRP8","c.*4180_*4181delAT","NM_004631.4",null,null,"Intron","rs144308373,rs746220586,rs760399892,rs796527635",55.56,{"$nulls":8},"delAT"]
["02160816100201_XZ",53708510,1,"T","-",9,"0;0","0;0","0;0","2;2","0;0","1;4",1,0,0,0,122,"Unknown","N/A","N/A","LRP8","-","NM_004631.4",null,null,"Intron",null,55.56,{"$nulls":8},"-"]
["02160816100201_XZ",53708850,1,"G","GT",170,"0;0","0;0","40;26","53;51","0;0","0;0",0,1,0,0,671,"Unknown","N/A","N/A","LRP8","c.*3840C>A","NM_004631.4",null,null,"Intron","rs3737984",61.18,{"$nulls":8},"A"]
["02160816100201_XZ",53711735,1,"G","CG",253,"0;0","64;63","63;62","1;0","0;0","0;0",0,0,0,0,589,"Unknown","N/A","N/A","LRP8","c.*955C>G","NM_004631.4",null,null,"Intron","rs5177",50.2,{"$nulls":8},"G"]
["02160816100201_XZ",53712185,1,"T","GT",7,"0;0","0;0","2;0","3;2","0;0","0;0",1,1,0,0,1,"Unknown","N/A","N/A","LRP8","c.*505A>C","NM_004631.4",null,null,"Intron",null,28.57,{"$nulls":8},"C"]
["02160816100201_XZ",53712224,1,"T","delT",14,"0;0","0;0","1;0","6;3","0;0","3;1",0,0,0,0,592,"Unknown","N/A","N/A","LRP8","c.*466delA","NM_004631.4",null,null,"Intron","rs373264067,rs536639144,rs74260654,rs772538513",28.57,{"$nulls":8},"delA"]
["02160816100201_XZ",53716416,1,"G","AG",326,"91;91","0;0","69;75","0;0","0;0","0;0",0,1,0,0,6350,"Synonymous","N/A","N/A","LRP8","c.2622C>T","NM_004631.4","CDS17","p.D874D","Exon","rs3737983",55.83,{"$nulls":8},"T"]
["02160816100201_XZ",53732315,1,"G","GT",210,"0;0","0;0","28;74","31;77","0;0","0;0",0,1,0,0,6007,"Synonymous","N/A","N/A","LRP8","c.1257C>A","NM_004631.4","CDS9","p.G419G","Exon","rs2297660",51.43,0.4016,0.6451,0.3795,0.6444,{"$nulls":4},"A",null,"CM061103","NM_004631.4:c.1257C-A","missense/nonsense","DP","Foetalgrowth restriction, lower risk, association",".",".",".","P",0.462,".","."]
["02160816100201_XZ",53742506,1,"A","AG",23,"8;8","0;0","2;5","0;0","0;0","0;0",0,1,0,0,5682,"Synonymous","N/A","N/A","LRP8","c.741T>C","NM_004631.4","CDS5","p.R247R","Exon","rs56300220",30.43,{"$nulls":8},"C"]
["02160816100201_XZ",53792651,1,"A","AC",240,"61;70","45;64","0;0","0;0","0;0","0;0",0,1,0,0,4773,"Nonsynonymous","N/A","N/A","LRP8","c.138T>G","NM_004631.4","CDS2","p.D46E","Exon","rs3820198",45.42,0.5206,0.4773,0.411,0.4424,{"$nulls":4},"G",null,"CM119908","NM_004631.4:c.138T-G","missense/nonsense","DP","Plasmacholesterol levels, association with","T","B","B","P",-1.219,".","."]
["02160816100201_XZ",53793511,1,"T","CT",6,"0;0","1;3","0;0","0;2","0;0","0;0",1,1,0,1,3624,"Nonsynonymous","N/A","N/A","LRP8","c.74A>G","NM_004631.4","CDS1","p.Q25R","Exon","rs4926972",66.67,0.4954,0.4685,"NA","NA",{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-3.002,".","."]
["02160816100201_XZ",53793512,1,"G","delGCA",6,"0;0","0;0","0;3","0;0","0;0","1;2",1,0,0,1,112,"In-frame","N/A","N/A","LRP8","c.71_73delTGC","NM_004631.4","CDS1","p.L24del","Exon","rs764027862,rs775257615,rs796779003,rs908948223",50,{"$nulls":8},"delTGC"]
["02160816100201_XZ",53793513,1,"C","-",6,"0;0","0;3","0;0","0;0","0;0","1;2",1,0,0,1,131,"In-frame","N/A","N/A","LRP8","-","NM_004631.4","CDS1",null,"Exon","rs750843476,rs758755011,rs761955852,rs764027862,rs765598168,rs775257615,rs908948223",50,{"$nulls":8},"-"]
["02160816100201_XZ",53793514,1,"A","-",6,"0;3","0;0","0;0","0;0","0;0","1;2",1,0,0,1,131,"In-frame","N/A","N/A","LRP8","-","NM_004631.4","CDS1",null,"Exon","rs761955852",50,{"$nulls":8},"-"]
["02160816100201_XZ",55315351,1,"T","CC",214,"0;0","113;101","0;0","0;0","0;0","0;0",0,1,0,1,2246,"Unknown","AR","DESMOSTEROLOSIS (OMIM:602398)","DHCR24","c.*2555A>G","NM_014762.3",null,null,"Intron","rs657688",100,{"$nulls":8},"G"]
["02160816100201_XZ",55315611,1,"C","CG",304,"0;0","86;64","74;78","2;0","0;0","0;0",0,0,0,0,1796,"Unknown","AR","DESMOSTEROLOSIS (OMIM:602398)","DHCR24","c.*2295G>C","NM_014762.3",null,null,"Intron","rs7373",50,{"$nulls":8},"C"]
["02160816100201_XZ",55316082,1,"A","CC",261,"1;0","133;127","0;0","0;0","0;0","0;0",0,1,0,0,2367,"Unknown","AR","DESMOSTEROLOSIS (OMIM:602398)","DHCR24","c.*1824T>G","NM_014762.3",null,null,"Intron","rs654561",99.62,{"$nulls":8},"G"]
["02160816100201_XZ",55316322,1,"A","AG",394,"111;98","0;0","99;86","0;0","0;0","0;0",0,1,0,0,1754,"Unknown","AR","DESMOSTEROLOSIS (OMIM:602398)","DHCR24","c.*1584T>C","NM_014762.3",null,null,"Intron","rs7374",46.95,{"$nulls":8},"C"]
["02160816100201_XZ",55317685,1,"G","AG",348,"86;89","0;0","75;97","0;0","0;0","0;1",0,1,0,0,2601,"Unknown","AR","DESMOSTEROLOSIS (OMIM:602398)","DHCR24","c.*221C>T","NM_014762.3",null,null,"Intron","rs1138030",50.29,{"$nulls":8},"T"]
["02160816100201_XZ",55318108,1,"C","CT",138,"0;0","21;50","0;0","18;49","0;0","0;0",0,1,0,0,6582,"Unknown","AR","DESMOSTEROLOSIS (OMIM:602398)","DHCR24","c.1398-49G>A","NM_014762.3",null,null,"Intron","rs667222",48.55,{"$nulls":8},"A"]
["02160816100201_XZ",55319902,1,"A","AG",259,"47;81","0;1","56;73","0;0","0;0","0;1",0,1,0,0,5581,"Synonymous","AR","DESMOSTEROLOSIS (OMIM:602398)","DHCR24","c.1026T>C","NM_014762.3","CDS7","p.I342I","Exon","rs718265",49.81,{"$nulls":8},"C"]
["02160816100201_XZ",55330966,1,"T","CC",344,"0;0","207;135","0;0","0;2","0;0","0;0",0,1,0,0,8366,"Unknown","AR","DESMOSTEROLOSIS (OMIM:602398)","DHCR24","c.1020+10A>G","NM_014762.3",null,null,"Intron","rs611057",99.42,{"$nulls":8},"G"]
["02160816100201_XZ",55505732,1,"A","GG",134,"3;0","0;0","50;81","0;0","0;0","0;0",0,0,0,0,7162,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","c.207+15A>G","NM_174936.3",null,null,"Intron","rs2495482",97.76,{"$nulls":4},0.9085,0.9444,"A",0.09145,"G",0.9085]
["02160816100201_XZ",55518316,1,"C","CT",210,"0;0","69;54","0;0","54;33","0;0","0;0",0,0,0,0,3276,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","c.658-7C>T","NM_174936.3",null,null,"Intron","rs2483205",41.43,{"$nulls":4},0.3942,0.1964,"T",0.3942,"T",0.3942]
["02160816100201_XZ",55518467,1,"A","AG",216,"41;59","0;0","50;66","0;0","0;0","0;0",0,0,0,0,3612,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","c.799+3A>G","NM_174936.3",null,null,"Intron","rs2495477",53.7,{"$nulls":4},0.4663,0.2272,"G",0.4663,"G",0.4663]
["02160816100201_XZ",55523033,1,"A","GG",394,"1;0","0;0","221;168","1;1","0;0","0;2",0,0,0,0,7473,"Synonymous","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","c.1026A>G","NM_174936.3","CDS7","p.Q342Q","Exon","rs509504",98.73,{"$nulls":4},0.9818,1,"A",0.01817,"G",0.9818,"CM1213460","NM_174936.3:c.1026A-G","missense/nonsense","DM?","Hypercholesterolaemia"]
["02160816100201_XZ",55524197,1,"A","GG",268,"0;0","0;0","131;137","0;0","0;0","0;0",0,0,0,0,7455,"Synonymous","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","c.1380A>G","NM_174936.3","CDS9","p.V460V","Exon","rs540796",100,0.864,0.9843,0.8543,0.9914,0.8692,0.9881,"A",0.1308,"G",0.8692,{"$nulls":5},"T",".",".","P",-0.355,".","."]
["02160816100201_XZ",55524237,1,"G","AA",238,"106;132","0;0","0;0","0;0","0;0","0;0",0,0,0,0,7454,"Nonsynonymous","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","c.1420G>A","NM_174936.3","CDS9","p.V474I","Exon","rs562556",100,0.8521,0.9668,0.8543,0.9914,0.869,0.9881,"G",0.131,"A",0.869,"CM045990","NM_174936.3:c.1420G-A","missense/nonsense","DP","HighLDL cholesterol, association with","T","B","B","P",-1.449,".","."]
["02160816100201_XZ",55524340,1,"G","delGTGTGTGTGTGTGTGT",100,"0;0","0;0","17;22","0;0","0;0","18;43",0,0,0,0,2032,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","c.1503+56_1503+71delGTGTGTGTGTGTGTGT","NM_174936.3",null,null,"Intron","rs35115360,rs368103912,rs56215417,rs754174667,rs762196801,rs765668920,rs771257845,rs772331713,rs772583304,rs775704112,rs869211452",61,{"$nulls":8},"delGTGTGTGTGTGTGTGT"]
["02160816100201_XZ",55524341,1,"T","-",100,"0;0","0;0","2;0","15;22","2;0","18;43",0,0,0,0,5432,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron",null,61,{"$nulls":8},"-"]
["02160816100201_XZ",55524342,1,"G","-",100,"1;0","2;0","14;22","0;0","0;0","18;43",0,0,0,0,5434,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron",null,61,{"$nulls":8},"-"]
["02160816100201_XZ",55524343,1,"T","-",98,"1;0","0;0","0;0","14;22","0;0","18;43",0,0,0,0,5446,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron",null,62.24,{"$nulls":8},"-"]
["02160816100201_XZ",55524344,1,"G","-",98,"0;0","0;0","15;22","0;0","0;0","18;43",0,0,0,0,5466,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron","rs35115360,rs368103912,rs56215417,rs754174667,rs762196801,rs765668920,rs771257845,rs772331713,rs772583304,rs775704112",62.24,{"$nulls":8},"-"]
["02160816100201_XZ",55524345,1,"T","-",95,"1;0","0;0","0;0","12;21","0;0","18;43",0,0,0,0,5461,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron",null,64.21,{"$nulls":8},"-"]
["02160816100201_XZ",55524346,1,"G","-",93,"0;0","0;0","13;19","0;0","0;0","18;43",0,0,0,0,5472,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron",null,65.59,{"$nulls":8},"-"]
["02160816100201_XZ",55524347,1,"T","-",92,"0;0","1;0","0;0","11;19","0;0","18;43",0,0,0,0,5468,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron","rs35115360,rs368103912,rs56215417,rs750886812,rs754174667,rs762196801,rs765668920,rs771257845,rs772331713,rs772583304,rs775704112",66.3,{"$nulls":8},"-"]
["02160816100201_XZ",55524348,1,"G","-",89,"1;0","0;0","11;16","0;0","0;0","18;43",0,0,0,0,5470,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron","rs750886812",68.54,{"$nulls":8},"-"]
["02160816100201_XZ",55524349,1,"T","-",84,"0;0","1;0","0;0","11;11","0;0","18;43",0,0,0,0,5499,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron","rs35115360,rs368103912,rs56215417,rs754174667,rs762196801,rs765668920,rs771257845,rs772331713,rs772583304,rs775704112",72.62,{"$nulls":8},"-"]
["02160816100201_XZ",55524350,1,"G","-",84,"1;0","0;0","11;11","0;0","0;0","18;43",0,0,0,0,5460,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron","rs35115360,rs368103912,rs56215417,rs754174667,rs758893721,rs762196801,rs771257845,rs772331713,rs772583304,rs775704112",72.62,{"$nulls":8},"-"]
["02160816100201_XZ",55524351,1,"T","-",84,"0;0","1;0","0;0","11;11","0;0","18;43",0,0,0,0,5395,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron","rs758893721",72.62,{"$nulls":8},"-"]
["02160816100201_XZ",55524352,1,"G","-",84,"0;0","0;0","12;11","0;0","0;0","18;43",0,0,0,0,5111,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron","rs368103912,rs56215417,rs754174667,rs771257845,rs772331713,rs772583304,rs775704112",72.62,{"$nulls":8},"-"]
["02160816100201_XZ",55524353,1,"T","-",82,"0;0","0;0","1;0","10;10","0;0","18;43",0,0,0,0,5105,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron","rs368103912,rs56215417,rs754174667,rs771257845,rs772583304,rs775704112",74.39,{"$nulls":8},"-"]
["02160816100201_XZ",55524354,1,"G","-",84,"0;0","1;1","23;39","0;0","0;0","5;15",0,0,0,0,2577,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron","rs754174667,rs772583304,rs775704112",23.81,{"$nulls":8},"-"]
["02160816100201_XZ",55524355,1,"T","-",83,"0;0","0;0","0;0","23;40","0;0","5;15",0,0,0,0,2561,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","-","NM_174936.3",null,null,"Intron",null,24.1,{"$nulls":8},"-"]
["02160816100201_XZ",55529029,1,"C","CT",258,"1;0","84;69","0;0","58;46","0;0","0;0",0,0,0,0,156,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","c.1864-13C>T","NM_174936.3",null,null,"Intron","rs147470944",40.31,{"$nulls":4},1.4E-3,0.0069,"T",0.001398,"T",0.001398]
["02160816100201_XZ",55529187,1,"G","AA",205,"99;106","0;0","0;0","0;0","0;0","0;0",0,0,0,0,7397,"Nonsynonymous","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","c.2009G>A","NM_174936.3","CDS12","p.G670E","Exon","rs505151",100,0.902,0.9493,0.9429,0.946,0.899,0.9603,"G",0.101,"A",0.899,"CM051950","NM_174936.3:c.2009A-G","missense/nonsense","DP","Atherosclerosis,severity, association with","T","B","B","P",-0.556,"Benign","Familial_hypercholesterolemia"]
["02160816100201_XZ",55529828,1,"C","TT",196,"0;0","0;0","0;0","107;89","0;0","0;0",0,0,0,0,1482,"Unknown","N/A","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:603776)","PCSK9","c.*571C>T","NM_174936.3",null,null,"Intron","rs662145",100,{"$nulls":6},"C",0.2758,"T",0.7242]
["02160816100201_XZ",56961051,1,"G","AA",239,"116;119","0;0","1;3","0;0","1;0","0;0",0,1,0,0,673,"Unknown",null,"N/A","PPAP2B","c.*1172C>T","NM_003713.4",null,null,"Intron","rs7519755",98.33,{"$nulls":8},"T"]
["02160816100201_XZ",56961354,1,"T","CC",333,"0;0","160;173","0;0","0;0","0;0","0;0",0,1,0,0,501,"Unknown",null,"N/A","PPAP2B","c.*869A>G","NM_003713.4",null,null,"Intron","rs10888976",100,{"$nulls":8},"G"]
["02160816100201_XZ",56961756,1,"A","GG",137,"0;2","0;0","71;64","0;0","0;0","0;0",0,1,0,0,391,"Unknown",null,"N/A","PPAP2B","c.*467T>C","NM_003713.4",null,null,"Intron","rs4628",98.54,{"$nulls":8},"C"]
["02160816100201_XZ",59247313,1,"T","CT",32,"0;0","9;0","0;0","5;18","0;0","0;0",0,1,0,1,1149,"Unknown","N/A","N/A","JUN","c.*434A>G","NM_002228.3",null,null,"Intron","rs879039374",28.13,{"$nulls":8},"G"]
["02160816100201_XZ",59247318,1,"A","AC",28,"3;16","8;0","0;0","0;0","0;0","1;0",0,1,0,1,1041,"Unknown","N/A","N/A","JUN","c.*429T>G","NM_002228.3",null,null,"Intron","rs878916560",28.57,{"$nulls":8},"G"]
["02160816100201_XZ",59247323,1,"T","CT",29,"0;0","6;1","0;1","7;14","0;0","0;0",0,1,0,1,1028,"Unknown","N/A","N/A","JUN","c.*424A>G","NM_002228.3",null,null,"Intron","rs879244636",24.14,{"$nulls":8},"G"]
["02160816100201_XZ",59248813,1,"G","CC",231,"1;0","95;134","0;0","0;1","0;0","0;0",0,1,0,0,7326,"Unknown","N/A","N/A","JUN","c.-71C>G","NM_002228.3",null,null,"Intron","rs2760499",99.13,{"$nulls":8},"G"]
["02160816100201_XZ",59249031,1,"T","GG",125,"0;1","0;0","58;66","0;0","0;0","0;0",0,1,0,0,3158,"Unknown","N/A","N/A","JUN","c.-289A>C","NM_002228.3",null,null,"Intron","rs2811894",99.2,{"$nulls":8},"C"]
["02160816100201_XZ",59249347,1,"G","CC",283,"2;0","140;141","0;0","0;0","2;0","0;0",0,1,0,0,1627,"Unknown","N/A","N/A","JUN","c.-605C>G","NM_002228.3",null,null,"Intron","rs1407816",99.29,{"$nulls":8},"G"]
["02160816100201_XZ",60358982,1,"T","CT",135,"0;0","33;36","0;0","25;41","0;0","0;0",0,1,0,0,176,"Unknown","N/A","N/A","CYP2J2","c.*341A>G","NM_000775.2",null,null,"Intron","rs2280273",51.11,{"$nulls":8},"G"]
["02160816100201_XZ",60359077,1,"A","AT",62,"10;14","0;0","0;0","17;20","0;0","0;1",0,0,0,0,264,"Unknown","N/A","N/A","CYP2J2","c.*246T>A","NM_000775.2",null,null,"Intron","rs2280274",59.68,{"$nulls":8},"A"]
["02160816100201_XZ",60359156,1,"G","AG",94,"28;19","0;0","35;12","0;0","0;0","0;0",0,1,0,0,344,"Unknown","N/A","N/A","CYP2J2","c.*167C>T","NM_000775.2",null,null,"Intron","rs4388726",50,{"$nulls":8},"T"]
["02160816100201_XZ",60381584,1,"C","CT",173,"0;0","50;40","0;1","52;30","0;0","0;0",0,1,0,0,585,"Unknown","N/A","N/A","CYP2J2","c.373+26G>A","NM_000775.2",null,null,"Intron","rs3738474",47.4,{"$nulls":8},"A"]
["02160816100201_XZ",63063177,1,"C","CT",107,"0;0","24;37","0;0","20;26","0;0","0;0",0,1,0,0,657,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","c.1683-10882G>A","NM_001271999.1",null,null,"Intron","rs12565895",42.99,{"$nulls":8},"A"]
["02160816100201_XZ",63069711,1,"T","CT",89,"0;0","23;22","0;0","24;20","0;0","0;0",0,0,0,0,689,"Synonymous","AR","HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 (OMIM:605019)","ANGPTL3","c.1003T>C","NM_014495.3","CDS6","p.L335L","Exon","rs12563308",50.56,{"$nulls":4},0.0559,0.0556,"C",0.05591,"C",0.05591]
["02160816100201_XZ",63070538,1,"G","delGTTAATGTG",30,"0;0","0;0","5;10","0;0","0;0","8;7",0,0,0,0,368,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","c.1682+13831_1682+13839delCACATTAAC","NM_001271999.1",null,null,"Intron","rs34483103,rs67461605,rs760709309",50,{"$nulls":8},"delCACATTAAC"]
["02160816100201_XZ",63070539,1,"T","-",30,"0;0","0;0","0;0","5;10","0;0","8;7",0,0,0,0,368,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","-","NM_001271999.1",null,null,"Intron",null,50,{"$nulls":8},"-"]
["02160816100201_XZ",63070540,1,"T","-",30,"0;0","0;0","1;0","4;10","0;0","8;7",0,0,0,0,368,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","-","NM_001271999.1",null,null,"Intron",null,50,{"$nulls":8},"-"]
["02160816100201_XZ",63070541,1,"A","-",30,"5;10","0;0","0;0","0;0","0;0","8;7",0,0,0,0,368,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","-","NM_001271999.1",null,null,"Intron",null,50,{"$nulls":8},"-"]
["02160816100201_XZ",63070542,1,"A","-",31,"5;11","0;0","0;0","0;0","0;0","8;7",0,0,0,0,368,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","-","NM_001271999.1",null,null,"Intron",null,48.39,{"$nulls":8},"-"]
["02160816100201_XZ",63070543,1,"T","-",31,"0;0","0;0","0;0","5;11","0;0","8;7",0,0,0,0,368,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","-","NM_001271999.1",null,null,"Intron",null,48.39,{"$nulls":8},"-"]
["02160816100201_XZ",63070544,1,"G","-",31,"0;0","0;0","5;11","0;0","0;0","8;7",0,0,0,0,368,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","-","NM_001271999.1",null,null,"Intron",null,48.39,{"$nulls":8},"-"]
["02160816100201_XZ",63070545,1,"T","-",31,"0;0","0;0","0;0","5;11","0;0","8;7",0,0,0,0,368,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","-","NM_001271999.1",null,null,"Intron",null,48.39,{"$nulls":8},"-"]
["02160816100201_XZ",63070546,1,"G","-",31,"0;0","0;0","5;10","0;1","0;0","8;7",0,0,0,0,368,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","-","NM_001271999.1",null,null,"Intron","rs34483103,rs67461605",48.39,{"$nulls":8},"-"]
["02160816100201_XZ",63070752,1,"T","GT",5,"0;0","0;0","2;0","1;2","0;0","0;0",1,1,0,0,0,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","c.1682+13625A>C","NM_001271999.1",null,null,"Intron",null,40,{"$nulls":8},"C"]
["02160816100201_XZ",63071972,1,"C","CG",9,"0;0","2;5","2;0","0;0","0;0","0;0",1,1,0,1,1,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","c.1682+12405G>C","NM_001271999.1",null,null,"Intron",null,22.22,{"$nulls":8},"C"]
["02160816100201_XZ",63071975,1,"T","delTTT",8,"0;0","0;0","0;0","2;4","0;0","2;0",1,1,0,1,0,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","c.1682+12400_1682+12402delAAA","NM_001271999.1",null,null,"Intron",null,25,{"$nulls":8},"delAAA"]
["02160816100201_XZ",63071976,1,"T","-",8,"0;0","0;0","0;0","2;4","0;0","2;0",1,1,0,1,0,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","-","NM_001271999.1",null,null,"Intron",null,25,{"$nulls":8},"-"]
["02160816100201_XZ",63071977,1,"T","-",8,"0;0","0;0","0;0","2;4","0;0","2;0",1,1,0,1,0,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615859)","DOCK7","-","NM_001271999.1",null,null,"Intron",null,25,{"$nulls":8},"-"]
["02160816100201_XZ",64059644,1,"C","GG",165,"0;0","0;0","94;68","0;0","0;0","1;2",0,0,0,1,2748,"Unknown","AR","CONGENITAL DISORDER OF GLYCOSYLATION, TY... (OMIM:614921)","PGM1","c.246+239C>G","NM_002633.2",null,null,"Intron","rs217490",98.18,{"$nulls":6},"C",0.1681,"G",0.8319]
["02160816100201_XZ",64059863,1,"T","AT",237,"46;76","0;2","0;0","42;71","0;0","0;0",0,0,0,0,605,"Unknown","AR","CONGENITAL DISORDER OF GLYCOSYLATION, TY... (OMIM:614921)","PGM1","c.246+458T>A","NM_002633.2",null,null,"Intron","rs61003960",51.48,{"$nulls":6},"A",0.1472,"A",0.1472]
["02160816100201_XZ",64095176,1,"T","CT",87,"0;0","19;29","0;0","21;18","0;0","0;0",0,0,0,0,8,"Synonymous","AR","CONGENITAL DISORDER OF GLYCOSYLATION, TY... (OMIM:614921)","PGM1","c.327T>C","NM_002633.2","CDS2","p.I109I","Exon","rs770271653",55.17,{"$nulls":8},"C"]
["02160816100201_XZ",64097432,1,"C","CT",127,"0;0","28;39","2;0","27;29","0;0","0;2",0,0,0,0,3326,"Nonsynonymous","AR","CONGENITAL DISORDER OF GLYCOSYLATION, TY... (OMIM:614921)","PGM1","c.661C>T","NM_002633.2","CDS4","p.R221C","Exon","rs1126728",44.09,0.2418,0.2937,0.2428,0.2527,0.2414,0.2688,"T",0.2414,"T",0.2414,{"$nulls":5},"T","P","B","P",0.655,".","."]
["02160816100201_XZ",64100478,1,"A","TT",216,"0;1","0;0","0;1","134;80","0;0","0;0",0,0,0,0,6239,"Unknown","AR","CONGENITAL DISORDER OF GLYCOSYLATION, TY... (OMIM:614921)","PGM1","c.683-22A>T","NM_002633.2",null,null,"Intron","rs6588052",99.07,{"$nulls":4},0.5002,0.6488,"A",0.4998,"T",0.5002]
["02160816100201_XZ",64104307,1,"C","CT",217,"0;0","72;46","1;0","55;42","0;0","0;1",0,0,0,0,1586,"Unknown","AR","CONGENITAL DISORDER OF GLYCOSYLATION, TY... (OMIM:614921)","PGM1","c.1029-49C>T","NM_002633.2",null,null,"Intron","rs11581836",44.7,{"$nulls":4},0.0707,0.1022,"T",0.07069,"T",0.07069]
["02160816100201_XZ",64125793,1,"G","AG",280,"38;57","0;0","74;111","0;0","0;0","0;0",0,0,0,0,140,"Unknown","AR","CONGENITAL DISORDER OF GLYCOSYLATION, TY... (OMIM:614921)","PGM1","c.*447G>A","NM_002633.2",null,null,"Intron","rs80334201",33.93,{"$nulls":6},"A",0.01118,"A",0.01118]
["02160816100201_XZ",68894544,1,"G","CG",12,"0;0","3;5","4;0","0;0","0;0","0;0",0,1,0,0,1635,"Unknown",null,"LEBER CONGENITAL AMAUROSIS, TYPE II (OMIM:204100), RETINITIS PIGMENTOSA 20 (OMIM:613794)","RPE65","c.*915C>G","NM_000329.2",null,null,"Intron","rs3118416",66.67,{"$nulls":8},"G"]
["02160816100201_XZ",68894731,1,"C","insCT",48,"0;0","23;25","0;0","0;0","9;9","0;0",0,0,0,0,1904,"Unknown",null,"LEBER CONGENITAL AMAUROSIS, TYPE II (OMIM:204100), RETINITIS PIGMENTOSA 20 (OMIM:613794)","RPE65","c.*728_*729insAG","NM_000329.2",null,null,"Intron","rs10626313,rs149739986,rs376150021",37.5,{"$nulls":8},"insAG"]
["02160816100201_XZ",68894848,1,"C","CT",38,"0;0","7;5","1;0","11;9","0;0","5;0",0,1,0,0,1906,"Unknown",null,"LEBER CONGENITAL AMAUROSIS, TYPE II (OMIM:204100), RETINITIS PIGMENTOSA 20 (OMIM:613794)","RPE65","c.*611G>A","NM_000329.2",null,null,"Intron","rs2182315",52.63,{"$nulls":8},"A"]
["02160816100201_XZ",68896945,1,"T","GT",162,"0;0","0;0","56;50","31;23","0;0","0;2",0,1,0,0,4720,"Unknown",null,"LEBER CONGENITAL AMAUROSIS, TYPE II (OMIM:204100), RETINITIS PIGMENTOSA 20 (OMIM:613794)","RPE65","c.1338+20A>C","NM_000329.2",null,null,"Intron","rs12564647",65.43,{"$nulls":8},"C"]
["02160816100201_XZ",68903942,1,"C","CT",126,"0;0","22;35","0;0","32;37","0;0","0;0",0,1,0,0,4827,"Synonymous",null,"LEBER CONGENITAL AMAUROSIS, TYPE II (OMIM:204100), RETINITIS PIGMENTOSA 20 (OMIM:613794)","RPE65","c.1056G>A","NM_000329.2","CDS10","p.E352E","Exon","rs12145904",54.76,{"$nulls":8},"A"]
["02160816100201_XZ",68905358,1,"G","CG",38,"0;0","6;12","7;13","0;0","0;0","0;0",0,0,0,0,7866,"Unknown",null,"LEBER CONGENITAL AMAUROSIS, TYPE II (OMIM:204100), RETINITIS PIGMENTOSA 20 (OMIM:613794)","RPE65","c.644-33C>G","NM_000329.2",null,null,"Intron","rs1925955",47.37,{"$nulls":8},"G"]
["02160816100201_XZ",74819077,1,"T","GG",119,"0;0","0;0","48;71","0;0","0;0","0;0",0,0,0,0,1102,"Unknown","N/A","N/A","FPGT-TNNI3K","c.1369+33T>G","NM_001112808.2",null,null,"Intron","rs6424586",100,{"$nulls":4},0.9391,1,"T",0.0609,"G",0.9391]
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["02160816100201_XZ",76229326,1,"T","CT",6,"0;0","2;2","0;0","1;1","0;0","0;0",1,0,0,0,1346,"Unknown",null,"ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DE... (OMIM:201450)","ACADM","c.*878T>C","NM_000016.4",null,null,"Intron","rs1146587",66.67,{"$nulls":6},"T",0.3083,"C",0.6917]
["02160816100201_XZ",78383467,1,"G","AG",7,"3;1","0;0","2;1","0;0","0;0","0;0",1,0,0,0,6567,"Unknown","1.N/A/2.AD","CARDIOMYOPATHY, DILATED, 1CC (OMIM:613122), CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2... (OMIM:613876)","NEXN","c.219+25G>A","NM_144573.3",null,null,"Intron","rs1749913",57.14,{"$nulls":4},0.7638,0.7669,"G",0.2362,"A",0.7638]
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["02160816100201_XZ",78408536,1,"C","CG",34,"2;0","9;10","4;9","0;0","0;0","0;0",0,0,0,0,1130,"Unknown","1.N/A/2.AD","CARDIOMYOPATHY, DILATED, 1CC (OMIM:613122), CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2... (OMIM:613876)","NEXN","c.*22C>G","NM_144573.3",null,null,"Intron","rs3767028",38.24,{"$nulls":4},0.122,0.0903,"G",0.122,"G",0.122]
["02160816100201_XZ",79002544,1,"C","CT",99,"0;0","23;31","0;0","21;24","0;0","0;0",0,0,0,0,38,"Unknown",null,"N/A","PTGFR","c.*172C>T","NM_000959.3",null,null,"Intron","rs12074883",45.45,{"$nulls":6},"T",0.1274,"T",0.1274]
["02160816100201_XZ",79002589,1,"A","AG",94,"19;24","0;0","26;24","0;1","0;0","0;0",0,0,0,0,36,"regulatory",null,"N/A","PTGFR","c.*217A>G","NM_000959.3",null,null,"Intron","rs12731181",53.19,{"$nulls":6},"G",0.1112,"G",0.1112,"CR156013","null","regulatory","DFP","Essentialhypertension, susceptibility to"]
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["02160816100201_XZ",79003258,1,"A","AC",81,"20;27","17;17","0;0","0;0","0;0","0;0",0,0,0,0,36,"Unknown",null,"N/A","PTGFR","c.*886A>C","NM_000959.3",null,null,"Intron","rs898",41.98,{"$nulls":6},"C",0.1116,"C",0.1116]
["02160816100201_XZ",79003355,1,"A","AG",56,"8;7","0;0","22;19","0;0","0;0","0;0",0,0,0,0,38,"Unknown",null,"N/A","PTGFR","c.*983A>G","NM_000959.3",null,null,"Intron","rs899",73.21,{"$nulls":6},"G",0.1276,"G",0.1276]
["02160816100201_XZ",79003523,1,"C","CG",34,"0;0","4;7","12;11","0;0","0;0","0;0",0,0,0,0,36,"Unknown",null,"N/A","PTGFR","c.*1151C>G","NM_000959.3",null,null,"Intron","rs7539847",67.65,{"$nulls":6},"G",0.06809,"G",0.06809]
["02160816100201_XZ",79004218,1,"A","insAA",37,"14;22","0;0","0;0","0;0","5;5","0;1",0,0,0,0,37,"Unknown",null,"N/A","PTGFR","c.*1858_*1859insAA","NM_000959.3",null,null,"Intron","rs563437261",27.03,{"$nulls":8},"insAA"]
["02160816100201_XZ",79004474,1,"C","CT",38,"0;0","8;9","0;0","10;11","0;0","0;0",0,0,0,0,36,"Unknown",null,"N/A","PTGFR","c.*2102C>T","NM_000959.3",null,null,"Intron","rs35223399",55.26,{"$nulls":6},"T",0.1112,"T",0.1112]
["02160816100201_XZ",79004512,1,"T","GT",55,"0;0","0;0","13;12","16;14","0;0","0;0",0,0,0,0,36,"Unknown",null,"N/A","PTGFR","c.*2140T>G","NM_000959.3",null,null,"Intron","rs41309153",45.45,{"$nulls":6},"G",0.1112,"G",0.1112]
["02160816100201_XZ",79004749,1,"A","insAGAT",21,"11;9","0;0","0;0","0;1","5;5","0;0",0,0,0,0,38,"Unknown",null,"N/A","PTGFR","c.*2381_*2382insGATA","NM_000959.3",null,null,"Intron","rs111483068,rs144935600,rs35218505,rs386367407",47.62,{"$nulls":8},"insGATA"]
["02160816100201_XZ",79004840,1,"T","insT",14,"0;0","0;0","0;0","6;7","1;2","1;0",0,0,0,0,2,"Unknown",null,"N/A","PTGFR","c.*2478_*2479insT","NM_000959.3",null,null,"Intron",null,21.43,{"$nulls":8},"insT"]
["02160816100201_XZ",79004920,1,"T","CT",36,"0;0","12;8","0;0","9;7","0;0","0;0",0,0,0,0,36,"Unknown",null,"N/A","PTGFR","c.*2548T>C","NM_000959.3",null,null,"Intron","rs12750516",55.56,{"$nulls":6},"C",0.1112,"C",0.1112]
["02160816100201_XZ",79005484,1,"G","AG",67,"16;7","0;0","25;19","0;0","0;0","0;0",0,0,0,0,36,"Unknown",null,"N/A","PTGFR","c.*3112G>A","NM_000959.3",null,null,"Intron","rs34635429",34.33,{"$nulls":6},"A",0.1,"A",0.1]
["02160816100201_XZ",79005551,1,"T","CT",118,"0;0","30;21","0;0","31;36","0;0","0;0",0,0,0,0,36,"Unknown",null,"N/A","PTGFR","c.*3179T>C","NM_000959.3",null,null,"Intron","rs41313355",43.22,{"$nulls":6},"C",0.09984,"C",0.09984]
["02160816100201_XZ",79005798,1,"T","CT",158,"0;0","40;34","0;0","44;40","0;0","0;0",0,0,0,0,38,"Unknown",null,"N/A","PTGFR","c.*3426T>C","NM_000959.3",null,null,"Intron","rs12065196",46.84,{"$nulls":6},"C",0.1274,"C",0.1274]
["02160816100201_XZ",85391899,1,"A","GG",147,"0;0","0;0","76;69","0;2","0;0","0;0",0,1,0,0,673,"Unknown",null,"N/A","MCOLN2","c.*469T>C","NM_153259.2",null,null,"Intron","rs2389791",98.64,{"$nulls":8},"C"]
["02160816100201_XZ",85392324,1,"C","TT",192,"0;0","0;0","0;0","83;109","0;0","0;0",0,1,0,0,1845,"Unknown",null,"N/A","MCOLN2","c.*44G>A","NM_153259.2",null,null,"Intron","rs6681025",100,{"$nulls":8},"A"]
["02160816100201_XZ",85397286,1,"G","CC",35,"0;0","12;21","2;0","0;0","0;0","0;0",0,1,0,0,1819,"Unknown",null,"N/A","MCOLN2","c.1336-35C>G","NM_153259.2",null,null,"Intron","rs34793286",94.29,{"$nulls":8},"G"]
["02160816100201_XZ",85424182,1,"A","AG",52,"16;12","0;0","15;9","0;0","0;0","0;0",0,1,0,0,1796,"Unknown",null,"N/A","MCOLN2","c.411+30T>C","NM_153259.2",null,null,"Intron","rs673998",46.15,{"$nulls":8},"C"]
["02160816100201_XZ",85462582,1,"C","CG",344,"0;0","89;106","66;82","0;1","0;0","0;0",0,0,0,0,2618,"Unknown",null,"N/A","MCOLN2","c.-27G>C","NM_153259.2",null,null,"Intron","rs11161503",43.02,{"$nulls":8},"C"]
["02160816100201_XZ",85462652,1,"G","GT",245,"0;0","0;0","70;85","32;58","0;0","0;0",0,1,0,0,2600,"Unknown",null,"N/A","MCOLN2","c.-97C>A","NM_153259.2",null,null,"Intron","rs11161504",36.73,{"$nulls":8},"A"]
["02160816100201_XZ",85462665,1,"T","GT",213,"0;0","0;0","30;58","50;75","0;0","0;0",0,1,0,0,2588,"Unknown",null,"N/A","MCOLN2","c.-110A>C","NM_153259.2",null,null,"Intron","rs11161505",41.31,{"$nulls":8},"C"]
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["02160816100201_XZ",85483936,1,"T","CT",85,"0;0","12;12","2;0","28;31","0;0","0;0",0,1,0,0,211,"Unknown",null,"N/A","MCOLN3","c.*870A>G","NM_018298.10",null,null,"Intron","rs55814348",28.24,{"$nulls":8},"G"]
["02160816100201_XZ",85484276,1,"C","CT",189,"0;0","47;35","0;0","63;44","0;0","0;0",0,1,0,0,364,"Unknown",null,"N/A","MCOLN3","c.*530G>A","NM_018298.10",null,null,"Intron","rs10782536",56.61,{"$nulls":8},"A"]
["02160816100201_XZ",85484366,1,"A","GG",190,"1;1","0;1","91;96","0;0","0;0","0;0",0,1,0,0,615,"Unknown",null,"N/A","MCOLN3","c.*440T>C","NM_018298.10",null,null,"Intron","rs7522239",98.42,{"$nulls":8},"C"]
["02160816100201_XZ",85484473,1,"C","CT",151,"0;0","37;38","0;0","32;44","0;0","0;0",0,1,0,0,523,"Unknown",null,"N/A","MCOLN3","c.*333G>A","NM_018298.10",null,null,"Intron","rs10782537",50.33,{"$nulls":8},"A"]
["02160816100201_XZ",85488030,1,"G","AA",203,"73;128","0;0","2;0","0;0","0;0","0;0",0,1,0,0,2815,"Synonymous",null,"N/A","MCOLN3","c.1149C>T","NM_018298.10","CDS9","p.L383L","Exon","rs2028304",99.01,{"$nulls":8},"T"]
["02160816100201_XZ",86046561,1,"C","AC",82,"43;8","24;7","0;0","0;0","0;0","0;0",0,0,0,0,2632,"Unknown",null,"N/A","CYR61","c.-107C>A","NM_001554.4",null,null,"Intron","rs2297140",62.2,{"$nulls":6},"C",0.4143,"A",0.5857]
["02160816100201_XZ",86939130,1,"C","TT",36,"0;0","0;0","0;0","20;16","0;0","0;0",0,0,0,0,6828,"Nonsynonymous","N/A","N/A","CLCA1","c.193C>T","NM_001285.3","CDS2","p.L65F","Exon","rs2145412",100,0.8997,0.9878,0.9402,0.9873,null,null,"C",0.1178,"T",0.8822,{"$nulls":5},"T","B","B","P",-0.254,".","."]
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["02160816100201_XZ",86952324,1,"A","GG",397,"0;0","0;0","197;200","0;0","0;0","0;0",0,0,0,0,6712,"Nonsynonymous","N/A","N/A","CLCA1","c.1070A>G","NM_001285.3","CDS7","p.N357S","Exon","rs2734705",100,0.8723,0.8829,0.8627,0.8719,0.887,0.8472,"A",0.113,"G",0.887,"CM109978","NM_001285.3:c.1070A-G","missense/nonsense","DP","Cysticfibrosis, modifier of","T","B","B","P",-0.119,".","."]
["02160816100201_XZ",86959173,1,"T","CC",413,"0;0","205;203","0;0","0;5","0;0","0;0",0,0,0,0,6771,"Nonsynonymous","N/A","N/A","CLCA1","c.1571T>C","NM_001285.3","CDS10","p.M524T","Exon","rs2791494",98.79,0.8407,0.9143,0.8418,0.9213,0.8496,0.9058,"T",0.1504,"C",0.8496,{"$nulls":5},"T","B","B","P",-0.226,".","."]
["02160816100201_XZ",86965419,1,"T","CC",39,"1;0","24;14","0;0","0;0","0;0","0;0",0,0,0,0,5268,"Synonymous","N/A","N/A","CLCA1","c.2436T>C","NM_001285.3","CDS14","p.T812T","Exon","rs1882753",97.44,{"$nulls":4},0.3526,0.5446,"C",0.3526,"C",0.3526]
["02160816100201_XZ",87036746,1,"C","AA",96,"56;40","0;0","0;0","0;0","0;0","0;0",0,0,0,0,3063,"Unknown",null,"N/A","CLCA4","c.1183-14C>A","NM_012128.3",null,null,"Intron","rs772599",100,{"$nulls":4},0.8646,0.9395,"C",0.1354,"A",0.8646]
["02160816100201_XZ",87045897,1,"C","delCCTACA",127,"0;0","1;1","0;0","0;0","0;0","62;63",0,0,0,0,2757,"In-frame",null,"N/A","CLCA4","c.2634_2639delACCTAC","NM_012128.3","CDS14","p.P879_T880del","Exon","rs4001061,rs762442999,rs77067122,rs772880712",98.43,{"$nulls":8},"delACCTAC"]
["02160816100201_XZ",87045898,1,"C","-",127,"0;0","1;1","0;0","0;0","0;0","62;63",0,0,0,0,2778,"In-frame",null,"N/A","CLCA4","-","NM_012128.3","CDS14",null,"Exon",null,98.43,{"$nulls":8},"-"]
["02160816100201_XZ",87045899,1,"T","-",127,"0;0","0;0","0;0","1;1","0;0","62;63",0,0,0,0,2777,"In-frame",null,"N/A","CLCA4","-","NM_012128.3","CDS14",null,"Exon",null,98.43,{"$nulls":8},"-"]
["02160816100201_XZ",87045900,1,"A","-",126,"1;0","0;0","0;0","0;0","0;0","62;63",0,0,0,0,2777,"In-frame",null,"N/A","CLCA4","-","NM_012128.3","CDS14",null,"Exon",null,99.21,{"$nulls":8},"-"]
["02160816100201_XZ",87045901,1,"C","-",126,"0;0","1;0","0;0","0;0","0;0","62;63",0,0,0,0,2778,"In-frame",null,"N/A","CLCA4","-","NM_012128.3","CDS14",null,"Exon",null,99.21,{"$nulls":8},"-"]
["02160816100201_XZ",87045902,1,"A","-",126,"0;0","0;0","0;0","1;0","0;0","62;63",0,0,0,0,2774,"In-frame",null,"N/A","CLCA4","-","NM_012128.3","CDS14",null,"Exon","rs4001061,rs56040873,rs746959406,rs762442999,rs77067122,rs772880712",99.21,{"$nulls":8},"-"]
["02160816100201_XZ",87101375,1,"C","CG",101,"0;0","25;31","20;23","2;0","0;0","0;0",0,0,0,0,710,"Unknown",null,"N/A","CLCA3P","c.*409+54938C>G","NR_024604.1",null,null,"Intron","rs2292830",42.57,{"$nulls":4},0.4776,0.4077,"G",0.4776,"G",0.4776]
["02160816100201_XZ",87101649,1,"T","CT",67,"0;0","24;11","0;0","18;14","0;0","0;0",0,0,0,0,652,"Unknown",null,"N/A","CLCA3P","c.*409+55212T>C","NR_024604.1",null,null,"Intron","rs2292829",52.24,{"$nulls":4},0.1552,0.3651,"C",0.1552,"C",0.1552]
["02160816100201_XZ",87114245,1,"G","CG",132,"1;0","16;35","29;51","0;0","0;0","0;0",0,0,0,0,404,"Unknown",null,"N/A","CLCA3P","c.-330-56008G>C","NR_024604.1",null,null,"Intron","rs1517903",38.64,{"$nulls":6},"C",0.1949,"C",0.1949]
["02160816100201_XZ",87115922,1,"T","CT",95,"0;0","35;24","0;0","23;13","0;0","0;0",0,0,0,0,457,"Unknown",null,"N/A","CLCA3P","c.-330-54331T>C","NR_024604.1",null,null,"Intron","rs535037",62.11,{"$nulls":6},"C",0.4567,"C",0.4567]
["02160816100201_XZ",87116116,1,"G","AG",47,"8;15","0;0","11;13","0;0","0;0","0;0",0,0,0,0,66,"Unknown",null,"N/A","CLCA3P","c.-330-54137G>A","NR_024604.1",null,null,"Intron","rs75270697",48.94,{"$nulls":6},"A",0.02576,"A",0.02576]
["02160816100201_XZ",87120588,1,"A","AC",8,"1;5","0;2","0;0","0;0","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","CLCA3P","c.-330-49665A>C","NR_024604.1",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",87120589,1,"T","GT",8,"0;0","0;0","0;2","1;5","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","CLCA3P","c.-330-49664T>G","NR_024604.1",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",87120592,1,"T","GT",8,"0;0","0;0","0;2","1;5","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","CLCA3P","c.-330-49661T>G","NR_024604.1",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",87120593,1,"A","AC",8,"1;5","0;2","0;0","0;0","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","CLCA3P","c.-330-49660A>C","NR_024604.1",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",87120595,1,"T","insC",8,"0;0","0;0","0;0","1;7","0;2","0;0",1,1,0,1,1,"Unknown",null,"N/A","CLCA3P","c.-330-49659_-330-49658insC","NR_024604.1",null,null,"Intron",null,25,{"$nulls":8},"insC"]
["02160816100201_XZ",87120597,1,"G","CG",7,"0;0","0;2","0;5","0;0","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","CLCA3P","c.-330-49656G>C","NR_024604.1",null,null,"Intron",null,28.57,{"$nulls":8},"C"]
["02160816100201_XZ",87120598,1,"A","AC",7,"0;5","0;2","0;0","0;0","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","CLCA3P","c.-330-49655A>C","NR_024604.1",null,null,"Intron",null,28.57,{"$nulls":8},"C"]
["02160816100201_XZ",87120600,1,"T","AT",7,"0;2","0;0","0;0","0;5","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","CLCA3P","c.-330-49653T>A","NR_024604.1",null,null,"Intron",null,28.57,{"$nulls":8},"A"]
["02160816100201_XZ",87120602,1,"A","CG",7,"0;2","0;2","0;3","0;0","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","CLCA3P","c.-330-49651A>C","NR_024604.1",null,null,"Intron","rs10782581","28.57,42.86",{"$nulls":6},"G",0.3844,"G",0.3844]
["02160816100201_XZ",92711972,1,"C","GG",4,"0;0","0;0","2;2","0;0","0;0","0;0",1,1,0,0,1586,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.*115G>C","NM_053274.2",null,null,"Intron","rs2046620",100,{"$nulls":8},"C"]
["02160816100201_XZ",92712016,1,"T","CT",7,"0;0","0;2","0;0","2;3","0;0","0;0",1,1,0,1,1,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.*71A>G","NM_053274.2",null,null,"Intron",null,28.57,{"$nulls":8},"G"]
["02160816100201_XZ",92712018,1,"T","GT",7,"0;0","0;0","0;2","2;3","0;0","0;0",1,1,0,1,0,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.*69A>C","NM_053274.2",null,null,"Intron",null,28.57,{"$nulls":8},"C"]
["02160816100201_XZ",92712020,1,"A","AC",6,"2;2","0;2","0;0","0;0","0;0","0;0",1,1,0,1,6,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.*67T>G","NM_053274.2",null,null,"Intron",null,33.33,{"$nulls":8},"G"]
["02160816100201_XZ",92712021,1,"A","AG",6,"2;2","0;0","0;2","0;0","0;0","0;0",1,1,0,1,1,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.*66T>C","NM_053274.2",null,null,"Intron",null,33.33,{"$nulls":8},"C"]
["02160816100201_XZ",92712022,1,"G","GT",6,"0;0","0;0","2;2","0;2","0;0","0;0",1,1,0,1,2,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.*65C>A","NM_053274.2",null,null,"Intron",null,33.33,{"$nulls":8},"A"]
["02160816100201_XZ",92712025,1,"A","AG",6,"2;2","0;0","0;2","0;0","0;0","0;0",1,1,0,1,3,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.*62T>C","NM_053274.2",null,null,"Intron",null,33.33,{"$nulls":8},"C"]
["02160816100201_XZ",92712026,1,"T","CT",8,"0;0","0;2","0;0","4;2","0;0","0;0",1,1,0,1,2,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.*61A>G","NM_053274.2",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",92712028,1,"A","AC",8,"4;2","0;2","0;0","0;0","0;0","0;0",1,1,0,1,12,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.*59T>G","NM_053274.2",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",92712029,1,"A","AT",8,"4;2","0;0","0;0","0;2","0;0","0;0",1,1,0,1,6,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.*58T>A","NM_053274.2",null,null,"Intron",null,25,{"$nulls":8},"A"]
["02160816100201_XZ",92712030,1,"A","insTCCG",8,"4;4","0;0","0;0","0;0","0;2","0;0",1,1,0,1,0,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.*57_*58insCGGA","NM_053274.2",null,null,"Intron",null,25,{"$nulls":8},"insCGGA"]
["02160816100201_XZ",92712032,1,"G","CG",9,"0;0","0;2","4;3","0;0","0;0","0;0",1,1,0,1,16,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.*55C>G","NM_053274.2",null,null,"Intron",null,22.22,{"$nulls":8},"G"]
["02160816100201_XZ",92712599,1,"A","delAA",40,"2;0","0;0","0;0","0;0","0;0","23;15",0,0,0,0,6975,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.1668+19_1668+20delTT","NM_053274.2",null,null,"Intron","rs1013984553,rs35752451,rs397737127",95,{"$nulls":8},"delTT"]
["02160816100201_XZ",92712600,1,"A","-",40,"0;0","0;0","2;0","0;0","0;0","23;15",0,0,0,0,6961,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","-","NM_053274.2",null,null,"Intron","rs1013984553,rs35752451,rs397737127,rs902406104",95,{"$nulls":8},"-"]
["02160816100201_XZ",92735359,1,"T","CC",30,"0;0","12;18","0;0","0;0","0;0","0;0",0,1,0,0,6927,"Unknown",null,"GLOMUVENOUS MALFORMATIONS (OMIM:138000)","GLMN","c.924-26A>G","NM_053274.2",null,null,"Intron","rs1487540",100,{"$nulls":8},"G"]
["02160816100201_XZ",93300404,1,"T","CT",70,"0;0","19;21","0;0","15;15","0;0","0;0",0,0,0,0,48,"Synonymous",null,"DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)","RPL5","c.258T>C","NM_000969.3","CDS4","p.Y86Y","Exon","rs113792800",57.14,{"$nulls":4},0.0142,1E-3,"C",0.01418,"C",0.01418]
["02160816100201_XZ",94350733,1,"G","GT",16,"0;0","0;0","5;6","2;3","0;0","0;0",0,0,0,0,309,"Unknown",null,"N/A","N/A","c.*1956+1857G>T",{"$nulls":3},"Intron","rs10874808",31.25,{"$nulls":6},"T",0.4203,"T",0.4203]
["02160816100201_XZ",94351063,1,"A","delAA",24,"7;3","0;0","0;0","0;0","0;0","8;6",0,0,0,0,226,"Unknown",null,"N/A","N/A","c.*1956+1525_*1956+1526delAA",{"$nulls":3},"Intron","rs60076181,rs796643500",58.33,{"$nulls":8},"delAA"]
["02160816100201_XZ",94351064,1,"A","-",23,"6;3","0;0","0;0","0;0","0;0","8;6",0,0,0,0,226,"Unknown",null,"N/A","N/A","-",{"$nulls":3},"Intron",null,60.87,{"$nulls":8},"-"]
["02160816100201_XZ",94351328,1,"C","CT",57,"0;0","17;15","0;0","11;14","0;0","0;0",0,0,0,0,300,"Unknown",null,"N/A","N/A","c.*1956+1262C>T",{"$nulls":3},"Intron","rs3170633",43.86,{"$nulls":6},"T",0.4203,"T",0.4203]
["02160816100201_XZ",94351769,1,"T","insT",31,"0;0","0;0","1;0","13;17","6;7","0;0",0,0,0,0,218,"Unknown",null,"N/A","N/A","c.*1956+812_*1956+813insT",{"$nulls":3},"Intron","rs11461316,rs398103031,rs753882186",41.94,{"$nulls":8},"insT"]
["02160816100201_XZ",94352238,1,"T","insT",78,"0;0","0;0","0;0","35;43","8;16","0;0",0,0,0,0,315,"Unknown",null,"N/A","N/A","c.*1956+343_*1956+344insT",{"$nulls":3},"Intron","rs34571118,rs397819233,rs398103032",30.77,{"$nulls":8},"insT"]
["02160816100201_XZ",94352554,1,"T","delT",24,"0;0","0;0","0;0","8;11","0;3","2;3",0,0,0,0,29,"Unknown",null,"N/A","N/A","c.*1956+21delT",{"$nulls":3},"Intron",null,20.83,{"$nulls":8},"delT"]
["02160816100201_XZ",94352570,1,"G","GT",20,"0;0","0;0","3;11","6;0","0;0","0;0",0,1,0,1,177,"Unknown",null,"N/A","N/A","c.*1956+20G>T",{"$nulls":3},"Intron",null,30,{"$nulls":8},"T"]
["02160816100201_XZ",94352571,1,"A","AT",17,"2;11","0;0","0;0","4;0","0;0","0;0",0,1,0,1,43,"Unknown",null,"N/A","N/A","c.*1956+19A>T",{"$nulls":3},"Intron",null,23.53,{"$nulls":8},"T"]
["02160816100201_XZ",94353030,1,"T","insT",21,"2;0","0;0","0;0","8;11","3;7","0;0",0,0,0,0,655,"Unknown","N/A","N/A","GCLM","c.*1516_*1517insA","NM_002061.2",null,null,"Intron","rs397980851,rs71094269",47.62,{"$nulls":8},"insA"]
["02160816100201_XZ",94353045,1,"G","GT",15,"0;0","0;0","2;8","5;0","0;0","0;0",0,1,0,0,190,"Unknown","N/A","N/A","GCLM","c.*1501C>A","NM_002061.2",null,null,"Intron","rs992230480",33.33,{"$nulls":8},"A"]
["02160816100201_XZ",94353449,1,"G","GT",46,"0;0","0;0","10;13","10;12","0;0","0;1",0,1,0,0,304,"Unknown","N/A","N/A","GCLM","c.*1097C>A","NM_002061.2",null,null,"Intron","rs7549683",47.83,{"$nulls":8},"A"]
["02160816100201_XZ",94353573,1,"C","CT",72,"0;0","13;16","0;0","28;15","0;0","0;0",0,1,0,0,309,"Unknown","N/A","N/A","GCLM","c.*973G>A","NM_002061.2",null,null,"Intron","rs7513671",59.72,{"$nulls":8},"A"]
["02160816100201_XZ",94367097,1,"G","AG",32,"9;10","0;0","7;6","0;0","0;0","0;0",0,1,0,0,2697,"Unknown","N/A","N/A","GCLM","c.277+44C>T","NM_002061.2",null,null,"Intron","rs7515191",59.38,{"$nulls":8},"T"]
["02160816100201_XZ",94374576,1,"G","AG",28,"6;2","0;0","9;11","0;0","0;0","0;0",0,1,0,0,1931,"Unknown","N/A","N/A","GCLM","c.126+18C>T","NM_002061.2",null,null,"Intron","rs2273406",28.57,{"$nulls":8},"T"]
["02160816100201_XZ",94374742,1,"C","AA",20,"6;9","2;1","0;0","1;1","0;0","0;0",0,0,1,0,1844,"Unknown","N/A","N/A","GCLM","c.-23G>T","NM_002061.2",null,null,"Intron","rs743119",75,{"$nulls":8},"T"]
["02160816100201_XZ",94471075,1,"A","GG",170,"2;0","0;0","84;83","1;0","0;0","0;0",0,1,0,0,8147,"Synonymous","N/A","STARGARDT DISEASE 1 (OMIM:248200), RETINITIS PIGMENTOSA 19 (OMIM:601718), CONE-ROD DYSTROPHY 3 (OMIM:604116)","ABCA4","c.6069T>C","NM_000350.2","CDS44","p.I2023I","Exon","rs1762114",98.24,{"$nulls":8},"C"]
["02160816100201_XZ",94487286,1,"A","delAC",59,"12;14","0;0","0;0","1;0","0;0","16;16",0,0,0,0,5801,"Unknown","N/A","STARGARDT DISEASE 1 (OMIM:248200), RETINITIS PIGMENTOSA 19 (OMIM:601718), CONE-ROD DYSTROPHY 3 (OMIM:604116)","ABCA4","c.4774-17_4774-16delGT","NM_000350.2",null,null,"Intron","rs55860151,rs757283043",54.24,{"$nulls":8},"delGT"]
["02160816100201_XZ",94487287,1,"C","-",59,"0;0","13;14","0;0","0;0","0;0","16;16",0,0,0,0,5793,"Unknown","N/A","STARGARDT DISEASE 1 (OMIM:248200), RETINITIS PIGMENTOSA 19 (OMIM:601718), CONE-ROD DYSTROPHY 3 (OMIM:604116)","ABCA4","-","NM_000350.2",null,null,"Intron",null,54.24,{"$nulls":8},"-"]
["02160816100201_XZ",94487354,1,"G","AG",120,"37;13","0;0","35;32","0;0","0;0","0;3",0,1,0,0,5682,"splicing","N/A","STARGARDT DISEASE 1 (OMIM:248200), RETINITIS PIGMENTOSA 19 (OMIM:601718), CONE-ROD DYSTROPHY 3 (OMIM:604116)","ABCA4","c.4773+48C>T","NM_000350.2",null,null,"Intron","rs472908",41.67,{"$nulls":8},"T",null,"CS138134","NM_000350.2:c.4773+48C>T","splicing","DM?","Stargardtdisease"]
["02160816100201_XZ",94496053,1,"G","AG",246,"50;68","0;0","67;60","1;0","0;0","0;0",0,1,0,0,1026,"Nonsynonymous","N/A","STARGARDT DISEASE 1 (OMIM:248200), RETINITIS PIGMENTOSA 19 (OMIM:601718), CONE-ROD DYSTROPHY 3 (OMIM:604116)","ABCA4","c.4283C>T","NM_000350.2","CDS29","p.T1428M","Exon","rs1800549",47.97,0.0101,0.0385,0.0041,0.0517,{"$nulls":4},"T",null,"CM970011","NM_000350.2:c.4283C-T","missense/nonsense","DM?","Maculardegeneration, age related","T","B","B","N",0.561,"Likelybenign","not_provided"]
["02160816100201_XZ",94544136,1,"C","insC",49,"0;0","36;13","0;0","0;0","32;11","0;0",0,0,0,0,7961,"Unknown","N/A","STARGARDT DISEASE 1 (OMIM:248200), RETINITIS PIGMENTOSA 19 (OMIM:601718), CONE-ROD DYSTROPHY 3 (OMIM:604116)","ABCA4","c.1356+10_1356+11insG","NM_000350.2",null,null,"Intron","rs281865386,rs4147887,rs564661476",87.76,{"$nulls":8},"insG"]
["02160816100201_XZ",94544233,1,"G","AG",175,"38;35","0;0","46;56","0;0","0;0","0;0",0,1,0,0,2280,"Synonymous","N/A","STARGARDT DISEASE 1 (OMIM:248200), RETINITIS PIGMENTOSA 19 (OMIM:601718), CONE-ROD DYSTROPHY 3 (OMIM:604116)","ABCA4","c.1269C>T","NM_000350.2","CDS10","p.H423H","Exon","rs4147831",41.71,{"$nulls":8},"T"]
["02160816100201_XZ",94544276,1,"G","AA",167,"68;99","0;0","0;0","0;0","0;0","0;0",0,1,0,0,6509,"Unknown","N/A","STARGARDT DISEASE 1 (OMIM:248200), RETINITIS PIGMENTOSA 19 (OMIM:601718), CONE-ROD DYSTROPHY 3 (OMIM:604116)","ABCA4","c.1240-14C>T","NM_000350.2",null,null,"Intron","rs4147830",100,{"$nulls":8},"T"]
["02160816100201_XZ",94576968,1,"T","CC",169,"0;0","95;71","0;0","2;1","0;0","0;0",0,1,0,0,7068,"Unknown","N/A","STARGARDT DISEASE 1 (OMIM:248200), RETINITIS PIGMENTOSA 19 (OMIM:601718), CONE-ROD DYSTROPHY 3 (OMIM:604116)","ABCA4","c.302+26A>G","NM_000350.2",null,null,"Intron","rs2297634",98.22,{"$nulls":8},"G"]
["02160816100201_XZ",94578548,1,"T","CC",138,"1;0","82;54","0;0","1;0","0;0","0;0",0,1,0,0,8386,"Synonymous","N/A","STARGARDT DISEASE 1 (OMIM:248200), RETINITIS PIGMENTOSA 19 (OMIM:601718), CONE-ROD DYSTROPHY 3 (OMIM:604116)","ABCA4","c.141A>G","NM_000350.2","CDS2","p.P47P","Exon","rs4847281",98.55,{"$nulls":8},"G"]
["02160816100201_XZ",94980671,1,"C","GG",39,"0;1","0;2","16;20","0;0","0;0","0;0",0,0,0,0,7965,"Unknown",null,"ATP-BINDING CASSETTE, SUBFAMILY D, MEMBE... (OMIM:170995), BILE ACID SYNTHESIS DEFECT, CONGENITAL, ... (OMIM:616278)","ABCD3","c.1846-31C>G","NM_002858.3",null,null,"Intron","rs3118109",92.31,{"$nulls":4},0.9836,1,"C",0.01637,"G",0.9836]
["02160816100201_XZ",94982784,1,"T","CT",8,"0;0","2;0","0;0","4;2","0;0","0;0",1,1,0,1,1,"Unknown",null,"ATP-BINDING CASSETTE, SUBFAMILY D, MEMBE... (OMIM:170995), BILE ACID SYNTHESIS DEFECT, CONGENITAL, ... (OMIM:616278)","ABCD3","c.*99T>C","NM_002858.3",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",94982785,1,"A","GT",9,"0;0","0;0","2;0","5;2","0;0","0;0",1,1,0,1,2,"Unknown",null,"ATP-BINDING CASSETTE, SUBFAMILY D, MEMBE... (OMIM:170995), BILE ACID SYNTHESIS DEFECT, CONGENITAL, ... (OMIM:616278)","ABCD3","c.*100A>G","NM_002858.3",null,null,"Intron","rs662813","22.22,77.78",{"$nulls":6},"T",0.2831,"T",0.2831]
["02160816100201_XZ",94982786,1,"A","AG",9,"5;2","0;0","2;0","0;0","0;0","0;0",1,1,0,1,4,"Unknown",null,"ATP-BINDING CASSETTE, SUBFAMILY D, MEMBE... (OMIM:170995), BILE ACID SYNTHESIS DEFECT, CONGENITAL, ... (OMIM:616278)","ABCD3","c.*101A>G","NM_002858.3",null,null,"Intron",null,22.22,{"$nulls":8},"G"]
["02160816100201_XZ",94982789,1,"A","AG",8,"4;2","0;0","2;0","0;0","0;0","0;0",1,1,0,1,9,"Unknown",null,"ATP-BINDING CASSETTE, SUBFAMILY D, MEMBE... (OMIM:170995), BILE ACID SYNTHESIS DEFECT, CONGENITAL, ... (OMIM:616278)","ABCD3","c.*104A>G","NM_002858.3",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",94982791,1,"A","AG",8,"4;2","0;0","2;0","0;0","0;0","0;0",1,1,0,1,6,"Unknown",null,"ATP-BINDING CASSETTE, SUBFAMILY D, MEMBE... (OMIM:170995), BILE ACID SYNTHESIS DEFECT, CONGENITAL, ... (OMIM:616278)","ABCD3","c.*106A>G","NM_002858.3",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",94982792,1,"A","AC",8,"4;2","2;0","0;0","0;0","0;0","0;0",1,1,0,1,3,"Unknown",null,"ATP-BINDING CASSETTE, SUBFAMILY D, MEMBE... (OMIM:170995), BILE ACID SYNTHESIS DEFECT, CONGENITAL, ... (OMIM:616278)","ABCD3","c.*107A>C","NM_002858.3",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",94982794,1,"A","AC",9,"5;2","2;0","0;0","0;0","0;0","0;0",1,1,0,1,3,"Unknown",null,"ATP-BINDING CASSETTE, SUBFAMILY D, MEMBE... (OMIM:170995), BILE ACID SYNTHESIS DEFECT, CONGENITAL, ... (OMIM:616278)","ABCD3","c.*109A>C","NM_002858.3",null,null,"Intron",null,22.22,{"$nulls":8},"C"]
["02160816100201_XZ",94983203,1,"C","CT",135,"1;0","31;31","0;0","37;35","0;0","0;0",0,0,0,0,1307,"Unknown",null,"ATP-BINDING CASSETTE, SUBFAMILY D, MEMBE... (OMIM:170995), BILE ACID SYNTHESIS DEFECT, CONGENITAL, ... (OMIM:616278)","ABCD3","c.*518C>T","NM_002858.3",null,null,"Intron","rs698951",53.33,{"$nulls":6},"T",0.4111,"T",0.4111]
["02160816100201_XZ",94984053,1,"A","delAA",16,"3;6","0;0","0;0","0;0","0;1","3;4",0,0,0,0,97,"Unknown",null,"ATP-BINDING CASSETTE, SUBFAMILY D, MEMBE... (OMIM:170995), BILE ACID SYNTHESIS DEFECT, CONGENITAL, ... (OMIM:616278)","ABCD3","c.*1384_*1385delAA","NM_002858.3",null,null,"Intron","rs144257807,rs753547339",43.75,{"$nulls":8},"delAA"]
["02160816100201_XZ",94984054,1,"A","-",16,"5;7","0;0","0;0","0;0","0;0","1;3",0,0,0,0,98,"Unknown",null,"ATP-BINDING CASSETTE, SUBFAMILY D, MEMBE... (OMIM:170995), BILE ACID SYNTHESIS DEFECT, CONGENITAL, ... (OMIM:616278)","ABCD3","-","NM_002858.3",null,null,"Intron","rs780220978,rs893374867",25,{"$nulls":8},"-"]
["02160816100201_XZ",94984230,1,"T","delTCTTT",11,"0;0","0;0","0;0","2;6","0;0","3;0",0,1,0,1,0,"Unknown",null,"N/A","N/A","c.*1534+12_*1534+16delCTTTT",{"$nulls":3},"Intron",null,27.27,{"$nulls":8},"delCTTTT"]
["02160816100201_XZ",94984231,1,"C","-",9,"0;0","2;4","0;0","0;0","0;0","3;0",1,1,0,1,0,"Unknown",null,"N/A","N/A","-",{"$nulls":3},"Intron",null,33.33,{"$nulls":8},"-"]
["02160816100201_XZ",94984232,1,"T","-",9,"0;0","0;0","0;0","2;4","0;0","3;0",1,1,0,1,0,"Unknown",null,"N/A","N/A","-",{"$nulls":3},"Intron",null,33.33,{"$nulls":8},"-"]
["02160816100201_XZ",94984233,1,"T","-",9,"0;0","0;0","1;0","2;4","0;0","2;0",1,1,0,1,0,"Unknown",null,"N/A","N/A","-",{"$nulls":3},"Intron",null,22.22,{"$nulls":8},"-"]
["02160816100201_XZ",94984234,1,"T","-",9,"0;0","0;0","0;0","3;4","0;0","2;0",1,1,0,1,0,"Unknown",null,"N/A","N/A","-",{"$nulls":3},"Intron",null,22.22,{"$nulls":8},"-"]
["02160816100201_XZ",94984235,1,"T","GT",9,"0;0","0;0","3;0","2;4","0;0","0;0",1,1,0,1,0,"Unknown",null,"N/A","N/A","c.*1534+16T>G",{"$nulls":3},"Intron",null,33.33,{"$nulls":8},"G"]
["02160816100201_XZ",94984236,1,"T","GT",9,"0;0","0;0","2;0","3;4","0;0","0;0",1,1,0,1,2,"Unknown",null,"N/A","N/A","c.*1534+17T>G",{"$nulls":3},"Intron",null,22.22,{"$nulls":8},"G"]
["02160816100201_XZ",94984237,1,"T","AT",9,"2;0","0;0","0;0","2;4","0;0","1;0",1,1,0,1,0,"Unknown",null,"N/A","N/A","c.*1534+18T>A",{"$nulls":3},"Intron",null,22.22,{"$nulls":8},"A"]
["02160816100201_XZ",94984239,1,"A","AG",9,"3;4","0;0","2;0","0;0","0;0","0;0",1,1,0,1,0,"Unknown",null,"N/A","N/A","c.*1534+20A>G",{"$nulls":3},"Intron",null,22.22,{"$nulls":8},"G"]
["02160816100201_XZ",94984242,1,"T","CT",9,"0;0","2;0","1;0","2;4","0;0","0;0",1,1,0,1,0,"Unknown",null,"N/A","N/A","c.*1534+23T>C",{"$nulls":3},"Intron",null,22.22,{"$nulls":8},"C"]
["02160816100201_XZ",100316589,1,"A","AG",56,"20;20","0;0","9;7","0;0","0;0","0;0",0,0,0,0,6397,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.-10A>G","NM_000642.2",null,null,"Intron","rs2307130",28.57,{"$nulls":4},0.4271,0.5198,"G",0.4271,"G",0.4271]
["02160816100201_XZ",100336361,1,"C","CT",18,"0;0","6;3","0;0","5;4","0;0","0;0",0,0,0,0,7207,"Synonymous",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.894C>T","NM_000642.2","CDS6","p.L298L","Exon","rs2230306",50,{"$nulls":4},0.7626,0.6835,"C",0.2374,"T",0.7626]
["02160816100201_XZ",100340225,1,"G","AA",42,"25;12","1;0","0;2","0;2","0;0","0;0",0,0,0,0,7259,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.959-18G>A","NM_000642.2",null,null,"Intron","rs634880",88.1,{"$nulls":6},"G",0.2566,"A",0.7434]
["02160816100201_XZ",100343153,1,"A","AG",30,"9;3","0;0","13;4","0;1","0;0","0;0",0,0,0,0,5569,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.1424-44A>G","NM_000642.2",null,null,"Intron","rs2291638",56.67,{"$nulls":4},0.2843,0.4365,"G",0.2843,"G",0.2843]
["02160816100201_XZ",100346741,1,"T","CT",72,"0;0","12;13","0;0","24;23","0;0","0;0",0,0,0,0,7057,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.2001+8T>C","NM_000642.2",null,null,"Intron","rs3736296",34.72,{"$nulls":4},0.5585,0.6796,"T",0.4415,"C",0.5585]
["02160816100201_XZ",100353675,1,"G","AG",216,"28;39","0;0","67;82","0;0","0;0","0;0",0,0,0,0,7051,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.2812+11G>A","NM_000642.2",null,null,"Intron","rs555929",31.02,{"$nulls":4},0.6811,0.7073,"G",0.3189,"A",0.6811]
["02160816100201_XZ",100357141,1,"T","AT",124,"27;17","0;1","0;0","43;36","0;0","0;0",0,0,0,0,6931,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.2950-21T>A","NM_000642.2",null,null,"Intron","rs2035961",35.48,{"$nulls":4},0.5343,0.6796,"T",0.4657,"A",0.5343]
["02160816100201_XZ",100358200,1,"G","AG",47,"4;15","0;0","11;17","0;0","3;0","0;0",0,0,0,0,6929,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.3259+37G>A","NM_000642.2",null,null,"Intron","rs594249",40.43,{"$nulls":4},0.6815,0.7073,"G",0.3185,"A",0.6815]
["02160816100201_XZ",100366447,1,"T","delTT",21,"0;0","0;0","0;0","1;8","0;0","3;9",0,0,0,0,5081,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.3588+43_3588+44delTT","NM_000642.2",null,null,"Intron","rs555388996,rs760847765,rs879004246",57.14,{"$nulls":8},"delTT"]
["02160816100201_XZ",100366448,1,"T","-",21,"0;0","0;0","0;0","1;10","0;0","3;7",0,0,0,0,5127,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","-","NM_000642.2",null,null,"Intron","rs35956186,rs397863854,rs566491838,rs796197451",47.62,{"$nulls":8},"-"]
["02160816100201_XZ",100376448,1,"G","AG",74,"10;20","0;0","19;25","0;0","0;0","0;0",0,0,0,0,6431,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.3836+45G>A","NM_000642.2",null,null,"Intron","rs2274570",40.54,{"$nulls":4},0.4613,0.5744,"A",0.4613,"A",0.4613]
["02160816100201_XZ",100387370,1,"G","CG",28,"0;0","1;5","9;13","0;0","1;0","0;0",0,1,0,0,1,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.*163G>C","NM_000642.2",null,null,"Intron",null,21.43,{"$nulls":8},"C"]
["02160816100201_XZ",100387479,1,"G","GT",25,"0;0","0;0","6;9","5;5","0;0","0;0",0,0,0,0,1830,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.*272G>T","NM_000642.2",null,null,"Intron","rs1804808",40,{"$nulls":6},"T",0.3321,"T",0.3321]
["02160816100201_XZ",100387939,1,"C","CT",27,"0;0","9;9","0;0","5;4","0;0","0;0",0,0,0,0,1535,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.*732C>T","NM_000642.2",null,null,"Intron","rs3766600",33.33,{"$nulls":6},"C",0.4095,"T",0.5905]
["02160816100201_XZ",100388235,1,"C","TT",4,"0;0","0;1","0;0","2;1","0;0","0;0",1,0,0,0,1473,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.*1028C>T","NM_000642.2",null,null,"Intron","rs3766601",75,{"$nulls":6},"T",0.4683,"T",0.4683]
["02160816100201_XZ",100388503,1,"A","AC",24,"9;5","4;6","0;0","0;0","0;0","0;0",0,0,0,0,1491,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.*1296A>C","NM_000642.2",null,null,"Intron","rs1804809",41.67,{"$nulls":6},"C",0.3758,"C",0.3758]
["02160816100201_XZ",100388748,1,"T","CT",158,"0;0","41;35","0;0","42;39","0;0","0;1",0,0,0,0,1534,"Unknown",null,"GLYCOGEN STORAGE DISEASE III (OMIM:232400)","AGL","c.*1541T>C","NM_000642.2",null,null,"Intron","rs3766603",48.1,{"$nulls":6},"C",0.4018,"C",0.4018]
["02160816100201_XZ",103342392,1,"T","CT",34,"0;0","11;13","0;0","6;4","0;0","0;0",0,1,0,0,613,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.*1183A>G","NM_001854.3",null,null,"Intron","rs9659030",70.59,{"$nulls":8},"G"]
["02160816100201_XZ",103352451,1,"A","AG",173,"32;31","0;0","53;57","0;0","0;0","0;0",0,1,0,0,6899,"Synonymous","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.4770T>C","NM_001854.3","CDS63","p.I1590I","Exon","rs2229783",63.58,{"$nulls":8},"C"]
["02160816100201_XZ",103354115,1,"T","CT",95,"0;0","25;17","0;0","31;22","0;0","0;0",0,1,0,0,3126,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.4608+18A>G","NM_001854.3",null,null,"Intron","rs17127203",44.21,{"$nulls":8},"G"]
["02160816100201_XZ",103354138,1,"A","AG",110,"29;22","0;0","31;28","0;0","0;0","0;0",0,1,0,0,7210,"Nonsynonymous","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.4603T>C","NM_001854.3","CDS62","p.S1535P","Exon","rs1676486",53.64,0.815,0.771,0.794,0.7304,{"$nulls":4},"C",null,"CM074756","NM_001854.3:c.4603C-T","missense/nonsense","DFP","Lumbardisc herniation, association with","T","B","B","P",-0.119,".","."]
["02160816100201_XZ",103354428,1,"A","AG",137,"33;43","0;0","30;31","0;0","0;0","0;0",0,1,0,0,7188,"Synonymous","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.4512T>C","NM_001854.3","CDS60","p.G1504G","Exon","rs1763347",44.53,{"$nulls":8},"C"]
["02160816100201_XZ",103354940,1,"T","insTGTGTGTGTG",28,"0;0","0;0","0;0","19;4","8;0","2;3",0,1,0,0,4782,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.4464+71_4464+72insCACACACACA","NM_001854.3",null,null,"Intron","rs113226085,rs777643087",28.57,{"$nulls":8},"insCACACACACA"]
["02160816100201_XZ",103356073,1,"A","delA",12,"3;3","0;0","0;0","0;0","0;0","3;3",0,0,0,0,890,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.4303-13delT","NM_001854.3",null,null,"Intron","rs35232764,rs761995167,rs765211921",50,{"$nulls":8},"delT"]
["02160816100201_XZ",103356107,1,"A","AG",9,"3;3","0;0","1;2","0;0","0;0","0;0",1,1,0,0,2746,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.4303-47T>C","NM_001854.3",null,null,"Intron","rs11164634",33.33,{"$nulls":8},"C"]
["02160816100201_XZ",103379918,1,"G","AA",20,"10;10","0;0","0;0","0;0","0;0","0;0",0,1,0,0,7018,"Nonsynonymous","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.3968C>T","NM_001854.3","CDS52","p.P1323L","Exon","rs3753841",100,0.5325,0.7098,0.5895,0.6892,{"$nulls":4},"T",{"$nulls":6},"D,T","B,P","B,P","P",0.655,".","."]
["02160816100201_XZ",103380380,1,"A","insA",28,"8;20","0;0","0;0","0;0","7;10","0;0",0,1,0,0,7326,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.3817-13_3817-12insT","NM_001854.3",null,null,"Intron","rs34228277,rs397831712,rs532651605",60.71,{"$nulls":8},"insT"]
["02160816100201_XZ",103444679,1,"T","GG",112,"0;0","0;0","53;58","0;0","0;0","1;0",0,1,0,0,7566,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.2611-19A>C","NM_001854.3",null,null,"Intron","rs11164649",99.11,{"$nulls":8},"C"]
["02160816100201_XZ",103461508,1,"T","AA",73,"38;35","0;0","0;0","0;0","0;0","0;0",0,1,0,0,7647,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.2295+37A>T","NM_001854.3",null,null,"Intron","rs2622867",100,{"$nulls":8},"T"]
["02160816100201_XZ",103471457,1,"C","delCAT",49,"0;0","5;7","1;0","0;0","0;0","17;19",0,0,0,0,7578,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.1792-12_1792-10delATG","NM_001854.3",null,null,"Intron","rs565657269,rs71752747,rs763506645",73.47,{"$nulls":8},"delATG"]
["02160816100201_XZ",103471458,1,"A","-",46,"6;4","0;0","0;0","0;0","0;0","17;19",0,0,0,0,7591,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","-","NM_001854.3",null,null,"Intron","rs565657269,rs71752747,rs763506645,rs796447905",78.26,{"$nulls":8},"-"]
["02160816100201_XZ",103471459,1,"T","-",46,"0;0","0;1","0;0","5;4","0;0","17;19",0,0,0,0,7585,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","-","NM_001854.3",null,null,"Intron",null,78.26,{"$nulls":8},"-"]
["02160816100201_XZ",103496806,1,"A","delA",36,"5;13","0;0","0;2","0;0","0;0","8;8",0,0,0,0,7467,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.652-6delT","NM_001854.3",null,null,"Intron","rs36076089,rs570169691",44.44,{"$nulls":8},"delT"]
["02160816100201_XZ",103548319,1,"C","GG",19,"0;0","0;1","14;4","0;0","0;0","0;0",0,1,0,0,5607,"Unknown","1.AR/2.AD/3.AD/4.AR","MARSHALL SYNDROME (OMIM:154780), FIBROCHONDROGENESIS 1 (OMIM:228520), STICKLER SYNDROME, TYPE II (OMIM:604841)","COL11A1","c.274+42G>C","NM_001854.3",null,null,"Intron","rs11164662",94.74,{"$nulls":8},"C"]
["02160816100201_XZ",109855136,1,"A","delA",48,"8;11","0;0","2;0","0;0","0;0","12;15",0,0,0,0,562,"Unknown","N/A","N/A","SORT1","c.*1529delT","NM_002959.5",null,null,"Intron","rs397981171,rs56296375,rs5776972,rs869179788",56.25,{"$nulls":8},"delT"]
["02160816100201_XZ",109855404,1,"G","AA",61,"37;24","0;0","0;0","0;0","0;0","0;0",0,1,0,0,702,"Unknown","N/A","N/A","SORT1","c.*1261C>T","NM_002959.5",null,null,"Intron","rs461200",100,{"$nulls":8},"T"]
["02160816100201_XZ",109856306,1,"G","AG",209,"50;58","0;0","47;54","0;0","0;0","0;0",0,1,0,0,1003,"Unknown","N/A","N/A","SORT1","c.*359C>T","NM_002959.5",null,null,"Intron","rs464218",51.67,{"$nulls":8},"T"]
["02160816100201_XZ",109856385,1,"A","delAA",122,"9;4","0;0","0;0","0;0","0;0","37;72",0,0,0,0,1973,"Unknown","N/A","N/A","SORT1","c.*279_*280delTT","NM_002959.5",null,null,"Intron","rs398053335,rs68028414,rs869119407",89.34,{"$nulls":8},"delTT"]
["02160816100201_XZ",109856386,1,"A","-",120,"6;4","1;0","0;0","0;0","0;0","37;72",0,0,0,0,1902,"Unknown","N/A","N/A","SORT1","-","NM_002959.5",null,null,"Intron",null,90.83,{"$nulls":8},"-"]
["02160816100201_XZ",109884775,1,"T","GG",107,"0;0","0;0","37;69","1;0","0;0","0;0",0,1,0,0,7005,"Synonymous","N/A","N/A","SORT1","c.969A>C","NM_002959.5","CDS9","p.T323T","Exon","rs2228604",99.07,{"$nulls":8},"C"]
["02160816100201_XZ",109897103,1,"A","GG",139,"0;0","0;0","61;76","0;1","0;0","0;1",0,1,0,0,7007,"Synonymous","N/A","N/A","SORT1","c.594T>C","NM_002959.5","CDS5","p.F198F","Exon","rs11142",98.56,{"$nulls":8},"C"]
["02160816100201_XZ",109935775,1,"A","CC",325,"3;2","137;183","0;0","0;0","0;0","0;0",0,1,0,0,893,"Unknown","N/A","N/A","SORT1","c.306+4434T>G","NM_002959.5",null,null,"Intron","rs2140924",98.46,{"$nulls":8},"G"]
["02160816100201_XZ",110233138,1,"G","CC",2,"0;0","1;1","0;0","0;0","0;0","0;0",1,0,0,0,2759,"Nonsynonymous","N/A","N/A","GSTM1","c.519G>C","NM_000561.3","CDS7","p.K173N","Exon","rs1065411",100,0.4359,0.7308,0.4677,0.6754,0.4617,0.7778,"C",0.4617,"C",0.4617,{"$nulls":5},"T","B","B","P",-0.264,".","."]
["02160816100201_XZ",110603287,1,"G","insGGTGCTTCCTCCGTGGTGTCCAGGCAGG",412,"0;0","0;3","205;203","0;0","51;68","1;0",0,0,0,0,7059,"Unknown","AR","FRONTONASAL DYSPLASIA 1 (OMIM:136760)","ALX3","c.*68_*69insCCTGCCTGGACACCACGGAGGAAGCACC","NM_006492.2",null,null,"Intron","rs144523285,rs57429950",28.88,{"$nulls":8},"insCCTGCCTGGACACCACGGAGGAAGCACC"]
["02160816100201_XZ",110612925,1,"G","AG",105,"21;20","0;0","35;27","0;0","0;0","0;2",0,1,0,0,7428,"Unknown","AR","FRONTONASAL DYSPLASIA 1 (OMIM:136760)","ALX3","c.277+33C>T","NM_006492.2",null,null,"Intron","rs2274568",39.05,{"$nulls":8},"T"]
["02160816100201_XZ",110753339,1,"G","AG",10,"2;2","0;0","4;2","0;0","0;0","0;0",0,0,0,0,1,"Unknown",null,"N/A","KCNC4","c.-783G>A","NM_004978.4",null,null,"Intron",null,40,{"$nulls":8},"A"]
["02160816100201_XZ",110754350,1,"G","GT",234,"0;0","0;0","74;70","43;47","0;0","0;0",0,0,0,0,56,"Nonsynonymous",null,"N/A","KCNC4","c.229G>T","NM_004978.4","CDS1","p.D77Y","Exon","rs200808980",38.46,0.0005,0.0017,0.0003,0.0035,0.0002,1E-3,"T",1.997E-4,"T",1.997E-4,{"$nulls":5},"D","D","D","D",0.561,".","."]
["02160816100201_XZ",111060752,1,"C","CT",524,"0;0","97;134","0;1","127;165","0;0","0;0",0,1,0,0,475,"Nonsynonymous",null,"N/A","KCNA10","c.658G>A","NM_005549.2","CDS1","p.V220M","Exon","rs34970857",55.73,0.0641,0.1084,0.0699,0.1046,{"$nulls":4},"A",{"$nulls":6},"D","P","B","N",0.655,".","."]
["02160816100201_XZ",111148822,1,"G","CG",192,"0;0","47;45","48;52","0;0","0;0","0;0",0,0,0,0,996,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:616366)","KCNA2","c.-496+28C>G","NM_004974.3",null,null,"Intron","rs11102136",47.92,{"$nulls":8},"G"]
["02160816100201_XZ",111148989,1,"C","AC",129,"24;34","31;39","1;0","0;0","0;0","0;0",0,1,0,0,914,"Unknown",null,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:616366)","KCNA2","c.-621-14G>T","NM_004974.3",null,null,"Intron","rs3860224",44.96,{"$nulls":8},"T"]
["02160816100201_XZ",111196836,1,"T","CC",13,"0;0","9;4","0;0","0;0","0;0","0;0",0,1,0,0,72,"Unknown","N/A","N/A","KCNA3","c.*1394+17474A>G","NM_002232.3",null,null,"Intron","rs2029685",100,{"$nulls":8},"G"]
["02160816100201_XZ",111197710,1,"G","AA",19,"14;5","0;0","0;0","0;0","0;0","0;0",0,1,0,0,72,"Unknown","N/A","N/A","KCNA3","c.*1394+16600C>T","NM_002232.3",null,null,"Intron","rs1493381",100,{"$nulls":8},"T"]
["02160816100201_XZ",111199205,1,"T","CC",195,"0;0","114;79","0;1","0;1","0;0","0;0",0,1,0,0,72,"Unknown","N/A","N/A","KCNA3","c.*1394+15105A>G","NM_002232.3",null,null,"Intron","rs2797520",98.97,{"$nulls":8},"G"]
["02160816100201_XZ",111199659,1,"T","GG",13,"0;0","1;0","5;7","0;0","0;0","0;0",0,1,0,0,72,"Unknown","N/A","N/A","KCNA3","c.*1394+14651A>C","NM_002232.3",null,null,"Intron","rs2797521",92.31,{"$nulls":8},"C"]
["02160816100201_XZ",111199687,1,"G","GT",6,"0;0","0;0","0;3","2;1","0;0","0;0",1,1,0,0,17,"Unknown","N/A","N/A","KCNA3","c.*1394+14623C>A","NM_002232.3",null,null,"Intron","rs893689703",50,{"$nulls":8},"A"]
["02160816100201_XZ",111201412,1,"A","AC",5,"2;1","0;2","0;0","0;0","0;0","0;0",1,1,0,0,0,"Unknown","N/A","N/A","KCNA3","c.*1394+12898T>G","NM_002232.3",null,null,"Intron",null,40,{"$nulls":8},"G"]
["02160816100201_XZ",111201498,1,"C","TT",19,"0;0","0;0","0;0","13;6","0;0","0;0",0,1,0,0,72,"Unknown","N/A","N/A","KCNA3","c.*1394+12812G>A","NM_002232.3",null,null,"Intron","rs2797522",100,{"$nulls":8},"A"]
["02160816100201_XZ",111201810,1,"C","delC,AA",59,"8;7","0;0","0;0","0;0","0;0","23;21",0,1,0,0,24,"Unknown","N/A","N/A","KCNA3","c.*1394+12500delG,c.*1394+12500G>T","NM_002232.3",null,null,"Intron","rs11308596,rs72628714","74.58,25.42",{"$nulls":8},"T"]
["02160816100201_XZ",111201861,1,"T","insTA",52,"0;0","0;0","0;0","23;29","21;25","0;0",0,0,0,0,72,"Unknown","N/A","N/A","KCNA3","c.*1394+12449_*1394+12450insTA","NM_002232.3",null,null,"Intron","rs34045947,rs57234219",88.46,{"$nulls":8},"insTA"]
["02160816100201_XZ",111215472,1,"A","CC",286,"1;0","161;120","0;1","0;2","0;0","0;1",0,1,0,0,1839,"Unknown","N/A","N/A","KCNA3","c.*232T>G","NM_002232.3",null,null,"Intron","rs1058184",98.25,{"$nulls":8},"G"]
["02160816100201_XZ",111217680,1,"G","GT",18,"1;0","0;0","2;7","1;7","0;0","0;0",0,0,0,0,160,"Unknown",null,"N/A","N/A","c.-224-25G>T",{"$nulls":3},"Intron","rs116257358",44.44,{"$nulls":6},"T",0.04892,"T",0.04892]
["02160816100201_XZ",112042131,1,"T","CT",201,"0;0","64;52","0;0","39;46","0;0","0;0",0,1,0,0,1196,"Unknown","N/A","N/A","ADORA3","c.*441A>G","NM_000677.3",null,null,"Intron","rs3394",57.71,{"$nulls":8},"G"]
["02160816100201_XZ",112042195,1,"T","CT",309,"2;0","84;78","1;1","81;62","0;0","0;0",0,1,0,0,1644,"Unknown","N/A","N/A","ADORA3","c.*377A>G","NM_000677.3",null,null,"Intron","rs1415792",52.43,{"$nulls":8},"G"]
["02160816100201_XZ",112042236,1,"G","AG",344,"78;84","0;0","91;91","0;0","0;0","0;0",0,1,0,0,2034,"Unknown","N/A","N/A","ADORA3","c.*336C>T","NM_000677.3",null,null,"Intron","rs1415793",47.09,{"$nulls":8},"T"]
["02160816100201_XZ",112042383,1,"G","AG",216,"51;62","0;0","45;58","0;0","0;0","0;0",0,1,0,0,4444,"Unknown","N/A","N/A","ADORA3","c.*189C>T","NM_000677.3",null,null,"Intron","rs923",52.31,{"$nulls":8},"T"]
["02160816100201_XZ",112042632,1,"A","AG",232,"46;42","0;0","67;75","0;2","0;0","0;0",0,1,0,0,6352,"Synonymous","N/A","N/A","ADORA3","c.897T>C","NM_000677.3","CDS2","p.A299A","Exon","rs2229155",61.21,{"$nulls":8},"C"]
["02160816100201_XZ",112045886,1,"C","CT",380,"1;0","99;103","0;0","87;90","0;0","0;0",0,1,0,0,22,"Nonsynonymous","N/A","N/A","ADORA3","c.91G>A","NM_000677.3","CDS1","p.V31M","Exon","rs62642559",46.58,0.0005,0.0017,0.0002,1.9E-3,{"$nulls":4},"A",{"$nulls":6},"T","B,P","B","D",0.655,".","."]
["02160816100201_XZ",112046540,1,"A","AG",364,"103;94","0;0","91;76","0;0","0;0","0;0",0,1,0,0,619,"regulatory","N/A","N/A","ADORA3","c.-564T>C","NM_000677.3",null,null,"Intron","rs1544224",45.88,{"$nulls":8},"C",null,"CR107423","null","regulatory","FP","Increasedtranscription factor binding affinity"]
["02160816100201_XZ",112046557,1,"C","CT",358,"0;0","97;91","0;0","94;76","0;0","0;0",0,1,0,0,619,"Unknown","N/A","N/A","ADORA3","c.-581G>A","NM_000677.3",null,null,"Intron","rs1544223",47.49,{"$nulls":8},"A"]
["02160816100201_XZ",112318484,1,"A","AG",33,"12;3","0;0","11;7","0;0","0;0","0;0",0,1,0,0,5467,"Unknown",null,"BRUGADA SYNDROME 9 (OMIM:616399), SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)","KCND3","c.*215T>C","NM_004980.4",null,null,"Intron","rs12033257",54.55,{"$nulls":8},"C"]
["02160816100201_XZ",112329551,1,"G","GT",343,"1;0","0;2","117;72","94;57","0;0","0;0",0,1,0,0,2616,"Unknown",null,"BRUGADA SYNDROME 9 (OMIM:616399), SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)","KCND3","c.1269+15C>A","NM_004980.4",null,null,"Intron","rs3738298",44.02,{"$nulls":8},"A"]
["02160816100201_XZ",113068577,1,"C","CT",127,"0;0","37;32","0;0","33;24","0;0","1;0",0,1,0,0,2080,"Unknown",null,"N/A","ST7L","c.*58G>A","NM_017744.4",null,null,"Intron","rs35147679",44.88,{"$nulls":8},"A"]
["02160816100201_XZ",113140583,1,"T","CT",104,"0;1","33;20","0;0","29;21","0;0","0;0",0,1,0,0,2084,"Unknown",null,"N/A","ST7L","c.622+10A>G","NM_017744.4",null,null,"Intron","rs12049572",50.96,{"$nulls":8},"G"]
["02160816100201_XZ",113162030,1,"C","insC",364,"1;0","131;223","2;0","0;0","50;77","1;6",0,1,0,0,60,"Unknown",null,"N/A","ST7L","c.-295_-294insG","NM_017744.4",null,null,"Intron","rs34583754",34.89,{"$nulls":8},"insG"]
["02160816100201_XZ",113217311,1,"G","CG",183,"0;0","58;41","45;39","0;0","0;0","0;0",0,0,0,0,83,"Unknown",null,"N/A","MOV10","c.-66+59G>C","NM_001130079.1",null,null,"Intron","rs3748655",54.1,{"$nulls":6},"C",0.09165,"C",0.09165]
["02160816100201_XZ",113231286,1,"T","CT",284,"0;0","70;62","0;0","83;69","0;0","0;0",0,0,0,0,486,"Unknown",null,"N/A","MOV10","c.138-271T>C","NM_001130079.1",null,null,"Intron","rs12126971",46.48,{"$nulls":6},"C",0.225,"C",0.225]
["02160816100201_XZ",113234456,1,"G","AG",286,"42;84","0;0","58;101","1;0","0;0","0;0",0,0,0,0,1833,"Unknown",null,"N/A","MOV10","c.971+35G>A","NM_001130079.1",null,null,"Intron","rs2932532",44.06,{"$nulls":4},0.5196,0.371,"G",0.4804,"A",0.5196]
["02160816100201_XZ",113236681,1,"C","CT",333,"0;0","101;65","0;0","94;73","0;0","0;0",0,0,0,0,2434,"Synonymous",null,"N/A","MOV10","c.1182C>T","NM_001130079.1","CDS7","p.G394G","Exon","rs3748656",50.15,{"$nulls":6},"T",0.2847,"T",0.2847]
["02160816100201_XZ",113237171,1,"A","AG",409,"88;103","0;0","104;114","0;0","0;0","0;0",0,0,0,0,2428,"Synonymous",null,"N/A","MOV10","c.1392A>G","NM_001130079.1","CDS8","p.T464T","Exon","rs883593",53.3,{"$nulls":4},0.2847,0.5427,"G",0.2847,"G",0.2847]
["02160816100201_XZ",113239382,1,"G","AG",520,"143;151","0;1","103;120","1;1","0;0","0;0",0,0,0,0,2166,"Synonymous",null,"N/A","MOV10","c.2112G>A","NM_001130079.1","CDS13","p.E704E","Exon","rs17030651",56.54,{"$nulls":4},0.2346,0.4425,"A",0.2346,"A",0.2346]
["02160816100201_XZ",113239478,1,"T","CT",381,"0;0","67;103","0;0","73;138","0;0","0;0",0,0,0,0,2985,"Unknown",null,"N/A","MOV10","c.2198+10T>C","NM_001130079.1",null,null,"Intron","rs2999158",44.62,{"$nulls":4},0.8063,0.8442,"T",0.1937,"C",0.8063]
["02160816100201_XZ",113241052,1,"T","CT",457,"0;0","106;119","0;0","112;120","0;0","0;0",0,0,0,0,2436,"Synonymous",null,"N/A","MOV10","c.2460T>C","NM_001130079.1","CDS15","p.A820A","Exon","rs2306940",49.23,{"$nulls":4},0.2871,0.5417,"C",0.2871,"C",0.2871]
["02160816100201_XZ",113242488,1,"C","CT",474,"0;0","120;130","2;1","105;116","0;0","0;0",0,0,0,0,1828,"Unknown",null,"N/A","MOV10","c.2710-28C>T","NM_001130079.1",null,null,"Intron","rs3013431",46.62,{"$nulls":4},0.5457,0.369,"C",0.4543,"T",0.5457]
["02160816100201_XZ",113243048,1,"C","CT",368,"0;0","109;85","0;1","96;77","0;0","0;0",0,0,0,0,2434,"Synonymous",null,"N/A","MOV10","c.2931C>T","NM_001130079.1","CDS20","p.S977S","Exon","rs6679",47.01,{"$nulls":4},0.2839,0.5407,"T",0.2839,"T",0.2839]
["02160816100201_XZ",114356663,1,"A","AG",16,"2;4","0;0","5;5","0;0","0;0","0;0",0,0,0,0,36,"Unknown",null,"N/A","LOC101928822","c.*864A>G","XR_246398.1",null,null,"Intron","rs3811021",62.5,{"$nulls":6},"G",0.1334,"G",0.1334]
["02160816100201_XZ",114357211,1,"G","AG",20,"8;2","1;0","4;5","0;0","0;0","0;0",0,0,0,0,48,"Unknown",null,"N/A","LOC101928822","c.*316G>A","XR_246398.1",null,null,"Intron","rs1217412",50,{"$nulls":6},"G",0.2993,"A",0.7007]
["02160816100201_XZ",114372528,1,"T","GT",37,"0;0","0;0","5;4","14;14","0;3","0;0",0,1,0,0,2868,"Unknown","N/A","N/A","PTPN22","c.2134+43A>C","NM_015967.5",null,null,"Intron","rs3761935",24.32,{"$nulls":8},"C"]
["02160816100201_XZ",114377093,1,"A","AG",53,"8;15","0;0","13;17","0;0","0;0","0;0",0,1,0,0,4472,"Unknown","N/A","N/A","PTPN22","c.1895-32T>C","NM_015967.5",null,null,"Intron","rs1599971",56.6,{"$nulls":8},"C"]
["02160816100201_XZ",114377568,1,"A","GG",87,"0;0","0;0","33;54","0;0","0;0","0;0",0,1,0,0,7915,"Nonsynonymous","N/A","N/A","PTPN22","c.1858T>C","NM_015967.5","CDS14","p.W620R","Exon","rs2476601",100,0.9579,1,0.9331,1,{"$nulls":4},"C",null,"CM041826","NM_015967.5:c.1858C-T","missense/nonsense","DFP","Rheumatoidarthritis, association with",".,T","B","B","P",-0.119,".","."]
["02160816100201_XZ",115238017,1,"A","delA",72,"24;16","0;0","0;0","0;0","8;2","28;4",0,0,1,0,4811,"Unknown","AR","ADENOSINE MONOPHOSPHATE DEAMINASE 1 (OMIM:102770), MYOPATHY DUE TO MYOADENYLATE DEAMINASE D... (OMIM:615511)","AMPD1","c.121+54delT","NM_000036.2",null,null,"Intron","rs200909380,rs397981383,rs535539175,rs549032388,rs569033021,rs68036474,rs775793073",44.44,{"$nulls":8},"delT"]
["02160816100201_XZ",115247158,1,"C","CG",14,"0;0","6;5","0;3","0;0","0;0","0;0",0,1,0,1,2,"Unknown","1.AD/2.NA/３.嵌合体/４.AD/５.IC/6.NA/７.体细胞嵌合/８.AD////","NOONAN SYNDROME 6 (OMIM:613224), MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550), MELANOSIS, NEUROCUTANEOUS (OMIM:249400), THYROID CARCINOMA, FOLLICULAR (OMIM:188470), NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC (OMIM:162900), COLORECTAL CANCER (OMIM:114500), RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERA... (OMIM:614470), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)","NRAS","c.*3557G>C","NM_002524.4",null,null,"Intron",null,21.43,{"$nulls":8},"C"]
["02160816100201_XZ",115247159,1,"A","AC",14,"6;4","0;3","0;0","0;0","0;0","0;1",0,1,0,1,0,"Unknown","1.AD/2.NA/３.嵌合体/４.AD/５.IC/6.NA/７.体细胞嵌合/８.AD////","NOONAN SYNDROME 6 (OMIM:613224), MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550), MELANOSIS, NEUROCUTANEOUS (OMIM:249400), THYROID CARCINOMA, FOLLICULAR (OMIM:188470), NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC (OMIM:162900), COLORECTAL CANCER (OMIM:114500), RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERA... (OMIM:614470), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)","NRAS","c.*3556T>G","NM_002524.4",null,null,"Intron",null,21.43,{"$nulls":8},"G"]
["02160816100201_XZ",115247160,1,"A","AT",14,"6;4","0;0","0;0","0;3","0;0","0;1",0,1,0,1,0,"Unknown","1.AD/2.NA/３.嵌合体/４.AD/５.IC/6.NA/７.体细胞嵌合/８.AD////","NOONAN SYNDROME 6 (OMIM:613224), MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550), MELANOSIS, NEUROCUTANEOUS (OMIM:249400), THYROID CARCINOMA, FOLLICULAR (OMIM:188470), NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC (OMIM:162900), COLORECTAL CANCER (OMIM:114500), RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERA... (OMIM:614470), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)","NRAS","c.*3555T>A","NM_002524.4",null,null,"Intron",null,21.43,{"$nulls":8},"A"]
["02160816100201_XZ",115247161,1,"A","AC",13,"6;3","0;3","0;0","0;0","0;0","0;1",0,1,0,1,0,"Unknown","1.AD/2.NA/３.嵌合体/４.AD/５.IC/6.NA/７.体细胞嵌合/８.AD////","NOONAN SYNDROME 6 (OMIM:613224), MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550), MELANOSIS, NEUROCUTANEOUS (OMIM:249400), THYROID CARCINOMA, FOLLICULAR (OMIM:188470), NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC (OMIM:162900), COLORECTAL CANCER (OMIM:114500), RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERA... (OMIM:614470), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)","NRAS","c.*3554T>G","NM_002524.4",null,null,"Intron",null,23.08,{"$nulls":8},"G"]
["02160816100201_XZ",115247164,1,"A","delAAA",13,"6;3","0;1","0;0","0;0","0;0","0;3",0,1,0,1,0,"Unknown","1.AD/2.NA/３.嵌合体/４.AD/５.IC/6.NA/７.体细胞嵌合/８.AD////","NOONAN SYNDROME 6 (OMIM:613224), MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550), MELANOSIS, NEUROCUTANEOUS (OMIM:249400), THYROID CARCINOMA, FOLLICULAR (OMIM:188470), NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC (OMIM:162900), COLORECTAL CANCER (OMIM:114500), RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERA... (OMIM:614470), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)","NRAS","c.*3549_*3551delTTT","NM_002524.4",null,null,"Intron",null,23.08,{"$nulls":8},"delTTT"]
["02160816100201_XZ",115247165,1,"A","-",13,"6;3","0;1","0;0","0;0","0;0","0;3",0,1,0,1,0,"Unknown","1.AD/2.NA/３.嵌合体/４.AD/５.IC/6.NA/７.体细胞嵌合/８.AD////","NOONAN SYNDROME 6 (OMIM:613224), MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550), MELANOSIS, NEUROCUTANEOUS (OMIM:249400), THYROID CARCINOMA, FOLLICULAR (OMIM:188470), NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC (OMIM:162900), COLORECTAL CANCER (OMIM:114500), RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERA... (OMIM:614470), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)","NRAS","-","NM_002524.4",null,null,"Intron",null,23.08,{"$nulls":8},"-"]
["02160816100201_XZ",115247166,1,"A","-",13,"6;3","0;0","0;1","0;0","0;0","0;3",0,1,0,1,0,"Unknown","1.AD/2.NA/３.嵌合体/４.AD/５.IC/6.NA/７.体细胞嵌合/８.AD////","NOONAN SYNDROME 6 (OMIM:613224), MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550), MELANOSIS, NEUROCUTANEOUS (OMIM:249400), THYROID CARCINOMA, FOLLICULAR (OMIM:188470), NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC (OMIM:162900), COLORECTAL CANCER (OMIM:114500), RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERA... (OMIM:614470), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)","NRAS","-","NM_002524.4",null,null,"Intron",null,23.08,{"$nulls":8},"-"]
["02160816100201_XZ",115247167,1,"A","AC",13,"6;4","0;3","0;0","0;0","0;0","0;0",0,1,0,1,1,"Unknown","1.AD/2.NA/３.嵌合体/４.AD/５.IC/6.NA/７.体细胞嵌合/８.AD////","NOONAN SYNDROME 6 (OMIM:613224), MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550), MELANOSIS, NEUROCUTANEOUS (OMIM:249400), THYROID CARCINOMA, FOLLICULAR (OMIM:188470), NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC (OMIM:162900), COLORECTAL CANCER (OMIM:114500), RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERA... (OMIM:614470), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)","NRAS","c.*3548T>G","NM_002524.4",null,null,"Intron",null,23.08,{"$nulls":8},"G"]
["02160816100201_XZ",115247168,1,"A","AC",13,"6;3","0;3","0;0","0;1","0;0","0;0",0,1,0,1,1,"Unknown","1.AD/2.NA/３.嵌合体/４.AD/５.IC/6.NA/７.体细胞嵌合/８.AD////","NOONAN SYNDROME 6 (OMIM:613224), MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550), MELANOSIS, NEUROCUTANEOUS (OMIM:249400), THYROID CARCINOMA, FOLLICULAR (OMIM:188470), NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC (OMIM:162900), COLORECTAL CANCER (OMIM:114500), RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERA... (OMIM:614470), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)","NRAS","c.*3547T>G","NM_002524.4",null,null,"Intron",null,23.08,{"$nulls":8},"G"]
["02160816100201_XZ",115247171,1,"A","AT",14,"7;4","0;0","0;0","0;3","0;0","0;0",0,1,0,1,1,"Unknown","1.AD/2.NA/３.嵌合体/４.AD/５.IC/6.NA/７.体细胞嵌合/８.AD////","NOONAN SYNDROME 6 (OMIM:613224), MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550), MELANOSIS, NEUROCUTANEOUS (OMIM:249400), THYROID CARCINOMA, FOLLICULAR (OMIM:188470), NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC (OMIM:162900), COLORECTAL CANCER (OMIM:114500), RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERA... (OMIM:614470), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)","NRAS","c.*3544T>A","NM_002524.4",null,null,"Intron",null,21.43,{"$nulls":8},"A"]
["02160816100201_XZ",115576023,1,"A","GG",171,"0;0","0;0","97;71","3;0","0;0","0;0",0,0,0,0,7844,"Nonsynonymous","AR","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS,... (OMIM:275100)","TSHB","c.40A>G","NM_000549.4","CDS1","p.T14A","Exon","rs10776792",98.25,0.9853,1,0.9707,1,0.9836,1,"A",0.01637,"G",0.9836,"CM991218","NM_000549.4:c.40G-A","missense/nonsense","DM?","Hypothyroidism","T","B","B","P",-1.595,".","."]
["02160816100201_XZ",116243230,1,"C","GG",181,"1;0","1;0","81;93","2;0","0;0","2;1",0,1,0,0,1553,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:611938)","CASQ2","c.*632G>C","NM_001232.3",null,null,"Intron","rs1140238",96.13,{"$nulls":8},"C"]
["02160816100201_XZ",116243380,1,"G","AA",262,"148;108","0;0","3;3","0;0","1;0","0;0",0,1,0,0,1654,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:611938)","CASQ2","c.*482C>T","NM_001232.3",null,null,"Intron","rs7521023",97.71,{"$nulls":8},"T"]
["02160816100201_XZ",116243719,1,"C","CT",290,"0;0","66;75","1;0","66;82","0;0","0;0",0,1,0,0,492,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:611938)","CASQ2","c.*143G>A","NM_001232.3",null,null,"Intron","rs28730709",51.03,{"$nulls":8},"A"]
["02160816100201_XZ",116247790,1,"G","AA",156,"93;61","0;1","1;0","0;0","0;0","0;0",0,1,0,0,5596,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:611938)","CASQ2","c.939+23C>T","NM_001232.3",null,null,"Intron","rs3811003",98.72,{"$nulls":8},"T"]
["02160816100201_XZ",116260532,1,"A","TT",173,"0;0","0;0","0;0","75;98","0;0","0;0",0,1,0,0,6575,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:611938)","CASQ2","c.784-17T>A","NM_001232.3",null,null,"Intron","rs2997741",100,{"$nulls":8},"A"]
["02160816100201_XZ",116268179,1,"A","delAA",12,"5;3","0;0","0;0","0;0","0;0","3;1",0,0,0,0,2824,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:611938)","CASQ2","c.738-6_738-5delTT","NM_001232.3",null,null,"Intron","rs776183314",33.33,{"$nulls":8},"delTT"]
["02160816100201_XZ",116268180,1,"A","-",11,"5;2","0;0","0;0","1;0","0;0","2;1",0,0,0,0,5396,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:611938)","CASQ2","-","NM_001232.3",null,null,"Intron","rs542504128,rs56889721,rs746004006,rs749555206,rs770958200,rs772703928,rs775788421,rs878872937",27.27,{"$nulls":8},"-"]
["02160816100201_XZ",116268202,1,"G","AG",14,"2;1","0;0","3;6","0;1","0;0","1;0",0,1,0,0,38,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:611938)","CASQ2","c.738-28C>T","NM_001232.3",null,null,"Intron","rs201847837",21.43,{"$nulls":8},"T"]
["02160816100201_XZ",116283343,1,"A","GG",164,"1;0","0;0","102;59","0;0","0;0","0;2",0,1,0,0,7324,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:611938)","CASQ2","c.420+6T>C","NM_001232.3",null,null,"Intron","rs9428083",98.17,{"$nulls":8},"C"]
["02160816100201_XZ",116310967,1,"T","CC",340,"0;0","158;177","0;0","1;4","0;1","0;0",0,1,0,0,5925,"Nonsynonymous","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:611938)","CASQ2","c.196A>G","NM_001232.3","CDS1","p.T66A","Exon","rs4074536",98.53,0.413,0.4983,0.3264,0.5483,{"$nulls":4},"G",null,"CM108210","NM_001232.3:c.196A-G","missense/nonsense","DP","QRSinterval, association with","T","B","B","P",-0.186,"Benign","not_specified"]
["02160816100201_XZ",116311198,1,"T","CC",169,"0;0","89;79","0;0","0;1","0;0","0;0",0,1,0,0,7716,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:611938)","CASQ2","c.-36A>G","NM_001232.3",null,null,"Intron","rs4074537",99.41,{"$nulls":8},"G"]
["02160816100201_XZ",116311367,1,"C","insCACACACA",146,"0;0","65;81","0;0","0;0","43;48","0;0",0,1,0,0,1262,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:611938)","CASQ2","c.-205_-204insTGTGTGTG","NM_001232.3",null,null,"Intron","rs146969305,rs746594440",62.33,{"$nulls":8},"insTGTGTGTG"]
["02160816100201_XZ",120057158,1,"C","TT",243,"1;0","2;1","0;0","123;116","0;0","0;0",0,0,0,0,3291,"Synonymous","N/A","N/A","HSD3B1","c.1012C>T","NM_000862.2","CDS3","p.L338L","Exon","rs6203",98.35,{"$nulls":4},0.3668,0.6528,"T",0.3668,"T",0.3668,"CM021275","NM_000862.2:c.1012T-C","missense/nonsense","DP","Hypertension,association with"]
["02160816100201_XZ",120057246,1,"C","AA",206,"98;107","0;1","0;0","0;0","0;0","0;0",0,0,0,0,3531,"Nonsynonymous","N/A","N/A","HSD3B1","c.1100C>A","NM_000862.2","CDS3","p.T367N","Exon","rs1047303,rs45609334",99.51,0.8036,0.9126,0.7549,0.9376,0.8335,0.9177,"C",0.1665,"A",0.8335,{"$nulls":5},"T","B","B","P",-2.061,".","."]
["02160816100201_XZ",120254506,1,"A","GG",319,"1;0","0;1","174;143","0;0","0;0","0;0",0,0,0,0,4232,"Unknown","AR","PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENC... (OMIM:601815), NEU-LAXOVA SYNDROME (OMIM:256520)","PHGDH","c.-140A>G","NM_006623.3",null,null,"Intron","rs561931",99.37,{"$nulls":6},"A",0.3017,"G",0.6983]
["02160816100201_XZ",120254545,1,"G","CC",351,"0;0","186;165","0;0","0;0","0;0","0;0",0,0,0,0,6182,"Unknown","AR","PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENC... (OMIM:601815), NEU-LAXOVA SYNDROME (OMIM:256520)","PHGDH","c.-101G>C","NM_006623.3",null,null,"Intron","rs562038",100,{"$nulls":6},"G",0.1825,"C",0.8175]
["02160816100201_XZ",120269567,1,"G","CG",539,"0;1","136;120","141;140","0;1","0;0","0;0",0,0,0,0,4228,"Unknown","AR","PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENC... (OMIM:601815), NEU-LAXOVA SYNDROME (OMIM:256520)","PHGDH","c.411+39G>C","NM_006623.3",null,null,"Intron","rs2236398",47.5,{"$nulls":4},0.2558,0.2867,"C",0.2558,"C",0.2558]
["02160816100201_XZ",120285546,1,"G","AA",273,"145;125","0;1","0;2","0;0","0;0","0;0",0,0,0,0,6659,"Synonymous","AR","PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENC... (OMIM:601815), NEU-LAXOVA SYNDROME (OMIM:256520)","PHGDH","c.1326G>A","NM_006623.3","CDS11","p.T442T","Exon","rs543703",98.9,{"$nulls":4},0.7222,0.622,"G",0.2778,"A",0.7222]
["02160816100201_XZ",120455095,1,"T","CT",89,"1;0","24;29","0;0","19;16","0;0","0;0",0,1,0,0,162,"Unknown","1.N/A/2.AD","ALAGILLE SYNDROME 2 (OMIM:610205), HAJDU-CHENEY SYNDROME (OMIM:102500)","NOTCH2","c.*2834A>G","NM_024408.3",null,null,"Intron","rs1043964",59.55,{"$nulls":8},"G"]
["02160816100201_XZ",120455340,1,"G","AG",120,"33;34","0;0","30;23","0;0","0;0","0;0",0,1,0,0,88,"Unknown","1.N/A/2.AD","ALAGILLE SYNDROME 2 (OMIM:610205), HAJDU-CHENEY SYNDROME (OMIM:102500)","NOTCH2","c.*2589C>T","NM_024408.3",null,null,"Intron","rs3795664",55.83,{"$nulls":8},"T"]
["02160816100201_XZ",120455441,1,"A","AG",171,"56;43","0;0","41;28","3;0","0;1","0;0",0,1,0,0,233,"Unknown","1.N/A/2.AD","ALAGILLE SYNDROME 2 (OMIM:610205), HAJDU-CHENEY SYNDROME (OMIM:102500)","NOTCH2","c.*2488T>C","NM_024408.3",null,null,"Intron","rs699780",40.35,{"$nulls":8},"C"]
["02160816100201_XZ",120456393,1,"C","insCTA",195,"0;0","96;99","0;0","0;0","30;29","0;0",0,0,0,0,155,"Unknown","1.N/A/2.AD","ALAGILLE SYNDROME 2 (OMIM:610205), HAJDU-CHENEY SYNDROME (OMIM:102500)","NOTCH2","c.*1536_*1537insTAG","NM_024408.3",null,null,"Intron","rs3839009,rs5777419",30.26,{"$nulls":8},"insTAG"]
["02160816100201_XZ",120457501,1,"C","CT",302,"0;0","75;103","2;0","52;70","0;0","0;0",0,1,0,0,196,"Unknown","1.N/A/2.AD","ALAGILLE SYNDROME 2 (OMIM:610205), HAJDU-CHENEY SYNDROME (OMIM:102500)","NOTCH2","c.*428G>A","NM_024408.3",null,null,"Intron","rs7527186",40.4,{"$nulls":8},"A"]
["02160816100201_XZ",120458924,1,"G","AG",494,"116;101","2;0","126;147","0;1","0;0","1;0",0,1,0,0,835,"Synonymous","1.N/A/2.AD","ALAGILLE SYNDROME 2 (OMIM:610205), HAJDU-CHENEY SYNDROME (OMIM:102500)","NOTCH2","c.6421C>T","NM_024408.3","CDS34","p.L2141L","Exon","rs3795666",43.93,{"$nulls":8},"T"]
["02160816100201_XZ",120477998,1,"C","AC",167,"39;40","45;42","0;0","0;1","0;0","0;0",0,1,0,0,1229,"Unknown","1.N/A/2.AD","ALAGILLE SYNDROME 2 (OMIM:610205), HAJDU-CHENEY SYNDROME (OMIM:102500)","NOTCH2","c.3655+97G>T","NM_024408.3",null,null,"Intron","rs2453056",47.31,{"$nulls":8},"T"]
["02160816100201_XZ",120484421,1,"G","AG",98,"16;30","1;0","18;33","0;0","0;0","0;0",0,1,0,0,1259,"Unknown","1.N/A/2.AD","ALAGILLE SYNDROME 2 (OMIM:610205), HAJDU-CHENEY SYNDROME (OMIM:102500)","NOTCH2","c.2753-44C>T","NM_024408.3",null,null,"Intron","rs2493420",46.94,{"$nulls":8},"T"]
["02160816100201_XZ",120512104,1,"T","CC",318,"1;1","210;105","1;0","0;0","0;0","0;0",0,1,0,0,7418,"Unknown","1.N/A/2.AD","ALAGILLE SYNDROME 2 (OMIM:610205), HAJDU-CHENEY SYNDROME (OMIM:102500)","NOTCH2","c.1108+30A>G","NM_024408.3",null,null,"Intron","rs2493409",99.06,{"$nulls":8},"G"]
["02160816100201_XZ",120612006,1,"G","AG",45,"18;5","0;0","16;6","0;0","0;0","0;0",0,1,0,0,4201,"Synonymous","1.N/A/2.AD","ALAGILLE SYNDROME 2 (OMIM:610205), HAJDU-CHENEY SYNDROME (OMIM:102500)","NOTCH2","c.15C>T","NM_024408.3","CDS1","p.R5R","Exon","rs4021006",51.11,"NA","NA",0.4222,0.4781,{"$nulls":4},"T",{"$nulls":6},".",".",".","D",0.184,".","."]
["02160816100201_XZ",145510365,1,"A","AC",9,"2;5","0;2","0;0","0;0","0;0","0;0",1,1,0,1,0,"Unknown","N/A","THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)","RBM8A","c.*1154A>C","NM_005105.4",null,null,"Intron",null,22.22,{"$nulls":8},"C"]
["02160816100201_XZ",145510368,1,"C","CT",7,"0;0","2;3","0;0","0;2","0;0","0;0",1,1,0,1,0,"Unknown","N/A","THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)","RBM8A","c.*1157C>T","NM_005105.4",null,null,"Intron",null,28.57,{"$nulls":8},"T"]
["02160816100201_XZ",145510369,1,"A","AC",7,"2;3","0;2","0;0","0;0","0;0","0;0",1,1,0,1,0,"Unknown","N/A","THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)","RBM8A","c.*1158A>C","NM_005105.4",null,null,"Intron",null,28.57,{"$nulls":8},"C"]
["02160816100201_XZ",145510370,1,"G","GT",7,"0;0","0;0","2;3","0;2","0;0","0;0",1,1,0,1,0,"Unknown","N/A","THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)","RBM8A","c.*1159G>T","NM_005105.4",null,null,"Intron",null,28.57,{"$nulls":8},"T"]
["02160816100201_XZ",145512146,1,"G","CG",5,"0;0","0;2","3;0","0;0","0;0","0;0",1,1,0,1,0,"Unknown","N/A","THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)","RBM8A","c.*2935G>C","NM_005105.4",null,null,"Intron",null,40,{"$nulls":8},"C"]
["02160816100201_XZ",145512149,1,"T","AT",6,"0;2","0;0","0;0","3;1","0;1","0;0",1,1,0,1,0,"Unknown","N/A","THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)","RBM8A","c.*2938T>A","NM_005105.4",null,null,"Intron",null,33.33,{"$nulls":8},"A"]
["02160816100201_XZ",145512150,1,"C","AC",6,"0;2","3;0","0;0","0;1","0;0","0;0",1,1,0,1,1,"Unknown","N/A","THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)","RBM8A","c.*2939C>A","NM_005105.4",null,null,"Intron",null,33.33,{"$nulls":8},"A"]
["02160816100201_XZ",145512151,1,"C","AC",7,"0;3","3;1","0;0","0;0","0;0","0;0",1,1,0,1,20,"Unknown","N/A","THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)","RBM8A","c.*2940C>A","NM_005105.4",null,null,"Intron",null,42.86,{"$nulls":8},"A"]
["02160816100201_XZ",145512152,1,"A","insA",7,"3;3","0;0","0;0","0;0","3;0","0;1",1,1,0,1,1359,"Unknown","N/A","THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)","RBM8A","c.*2954_*2955insA","NM_005105.4",null,null,"Intron","rs147004767,rs34729420",42.86,{"$nulls":8},"insA"]
["02160816100201_XZ",145512860,1,"A","AC",7,"0;5","2;0","0;0","0;0","0;0","0;0",1,1,0,1,1079,"Unknown","N/A","THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)","RBM8A","c.*3649A>C","NM_005105.4",null,null,"Intron",null,28.57,{"$nulls":8},"C"]
["02160816100201_XZ",145512865,1,"A","AC",5,"0;3","2;0","0;0","0;0","0;0","0;0",1,1,0,1,1132,"Unknown","N/A","THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)","RBM8A","c.*3654A>C","NM_005105.4",null,null,"Intron","rs879968889",40,{"$nulls":8},"C"]
["02160816100201_XZ",147096828,1,"C","GG",2,"0;0","0;0","1;1","0;0","0;0","0;0",1,0,0,0,6400,"Unknown",null,"N/A","BCL9","c.*68C>G","NM_004326.3",null,null,"Intron","rs946902",100,{"$nulls":6},"C",0.03654,"G",0.9635]
["02160816100201_XZ",147096877,1,"C","CT",8,"0;0","4;2","0;0","1;1","0;0","0;0",1,0,0,0,1,"Unknown",null,"N/A","BCL9","c.*117C>T","NM_004326.3",null,null,"Intron",null,25,{"$nulls":8},"T"]
["02160816100201_XZ",147229382,1,"G","AA",21,"10;10","0;0","0;0","0;0","0;0","0;1",0,1,0,0,1403,"Unknown","1.AD/2.AD","ATRIAL STANDSTILL (OMIM:108770), ATRIAL FIBRILLATION, FAMILIAL, 11 (OMIM:614049)","GJA5","c.*888C>T","NM_005266.6",null,null,"Intron","rs10900395",95.24,{"$nulls":8},"T"]
["02160816100201_XZ",147230978,1,"G","AG",319,"62;58","0;1","96;97","1;3","0;0","0;1",0,1,0,0,753,"Synonymous","1.AD/2.AD","ATRIAL STANDSTILL (OMIM:108770), ATRIAL FIBRILLATION, FAMILIAL, 11 (OMIM:614049)","GJA5","c.369C>T","NM_005266.6","CDS1","p.Y123Y","Exon","rs2232191",37.62,{"$nulls":8},"T"]
["02160816100201_XZ",147245383,1,"T","CC",5,"0;0","3;2","0;0","0;0","0;0","0;0",1,1,0,0,827,"regulatory","1.AD/2.AD","ATRIAL STANDSTILL (OMIM:108770), ATRIAL FIBRILLATION, FAMILIAL, 11 (OMIM:614049)","GJA5","c.-61A>G","NM_005266.6",null,null,"Intron","rs11552588",100,{"$nulls":8},"G",null,"CR030323","null","regulatory","DFP","Atrialstandstill, association with"]
["02160816100201_XZ",147245497,1,"C","TT",2,"0;0","0;0","0;0","1;1","0;0","0;0",1,1,0,0,13,"Unknown","1.AD/2.AD","ATRIAL STANDSTILL (OMIM:108770), ATRIAL FIBRILLATION, FAMILIAL, 11 (OMIM:614049)","GJA5","c.-144-31G>A","NM_005266.6",null,null,"Intron","rs35594137",100,{"$nulls":8},"A"]
["02160816100201_XZ",147381398,1,"A","insA",37,"6;30","0;0","0;0","0;0","3;13","0;1",0,0,0,0,5707,"Splice",null,"N/A","N/A","c.*12+14_*12+15insA",null,null,"Splice","Splice","rs587649338,rs782811503,rs797034074",43.24,{"$nulls":8},"insA"]
["02160816100201_XZ",150297335,1,"T","delT",39,"0;0","0;0","0;0","16;6","2;1","10;7",0,0,1,0,6073,"Unknown","AD","RETINITIS PIGMENTOSA 18 (OMIM:601414)","PRPF3","c.-48-3delT","NM_004698.2",null,null,"Intron","rs587608326,rs587622251,rs587668367,rs587677749,rs587748843,rs782044233",43.59,{"$nulls":8},"delT"]
["02160816100201_XZ",153651270,1,"T","delTC",252,"0;0","0;1","0;0","64;94","3;3","49;44",0,0,0,0,1872,"Unknown","N/A","N/A","NPR1","c.-294_-293delCT","NM_000906.3",null,null,"Intron","rs372498898,rs377203433,rs398049601,rs548449551,rs72446315,rs796502735,rs879196013",36.9,{"$nulls":8},"delCT"]
["02160816100201_XZ",153651271,1,"C","-",250,"0;0","63;93","0;0","0;1","0;0","49;44",0,0,0,0,1965,"Unknown","N/A","N/A","NPR1","-","NM_000906.3",null,null,"Intron",null,37.2,{"$nulls":8},"-"]
["02160816100201_XZ",153660515,1,"C","delC",191,"0;0","29;39","0;0","0;0","1;1","75;48",0,0,0,0,6155,"Unknown","N/A","N/A","NPR1","c.2249-8delC","NM_000906.3",null,null,"Intron","rs11295572,rs397801974",64.4,{"$nulls":8},"delC"]
["02160816100201_XZ",153665920,1,"C","insC",296,"1;0","133;161","1;0","0;0","55;71","0;0",0,0,0,0,6138,"Unknown","N/A","N/A","NPR1","c.*32_*33insC","NM_000906.3",null,null,"Intron","rs397745541,rs5777879",42.57,{"$nulls":8},"insC"]
["02160816100201_XZ",154127736,1,"A","GG",79,"0;1","0;0","42;35","0;0","0;0","0;1",0,0,0,0,1290,"Unknown",null,"N/A","N/A","c.-72-144A>G",{"$nulls":3},"Intron","rs16835846",97.47,{"$nulls":6},"G",0.2039,"G",0.2039]
["02160816100201_XZ",154127820,1,"T","CC",121,"0;0","70;47","0;0","1;1","0;0","2;0",0,1,0,0,1310,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+6469A>G","NM_152263.3",null,null,"Intron","rs16835852",96.69,{"$nulls":8},"G"]
["02160816100201_XZ",154128545,1,"T","GT",8,"0;1","0;0","0;2","2;3","0;0","0;0",1,1,0,1,2,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5744A>C","NM_152263.3",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",154128546,1,"A","delA",8,"2;4","0;0","0;0","0;0","0;0","0;2",1,1,0,1,1,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5743delT","NM_152263.3",null,null,"Intron",null,25,{"$nulls":8},"delT"]
["02160816100201_XZ",154128552,1,"T","CT",7,"0;0","0;5","0;0","2;0","0;0","0;0",1,1,0,1,14,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5737A>G","NM_152263.3",null,null,"Intron","rs965899357",71.43,{"$nulls":8},"G"]
["02160816100201_XZ",154128553,1,"A","delA",7,"2;2","0;1","0;0","0;0","0;0","0;2",1,1,0,1,9,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5736delT","NM_152263.3",null,null,"Intron",null,28.57,{"$nulls":8},"delT"]
["02160816100201_XZ",154128562,1,"C","CG",5,"0;0","2;0","0;3","0;0","0;0","0;0",1,1,0,1,19,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5727G>C","NM_152263.3",null,null,"Intron",null,60,{"$nulls":8},"C"]
["02160816100201_XZ",154128564,1,"C","CT",5,"0;0","2;0","0;0","0;3","0;0","0;0",1,1,0,1,6,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5725G>A","NM_152263.3",null,null,"Intron",null,60,{"$nulls":8},"A"]
["02160816100201_XZ",154128566,1,"G","AG",5,"0;2","0;0","2;1","0;0","0;0","0;0",1,1,0,1,2,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5723C>T","NM_152263.3",null,null,"Intron",null,40,{"$nulls":8},"T"]
["02160816100201_XZ",154128571,1,"G","GT",7,"0;1","0;0","0;2","4;0","0;0","0;0",1,1,0,1,1174,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5718C>A","NM_152263.3",null,null,"Intron","rs60282844",57.14,{"$nulls":8},"A"]
["02160816100201_XZ",154128576,1,"C","CT",7,"0;0","4;1","0;0","0;2","0;0","0;0",1,1,0,1,2,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5713G>A","NM_152263.3",null,null,"Intron",null,28.57,{"$nulls":8},"A"]
["02160816100201_XZ",154128577,1,"A","AG",8,"5;1","0;0","0;2","0;0","0;0","0;0",1,1,0,1,4,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5712T>C","NM_152263.3",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",154128578,1,"G","CG",8,"0;0","0;2","5;1","0;0","0;0","0;0",1,1,0,1,3,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5711C>G","NM_152263.3",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",154128579,1,"G","AG",8,"0;2","0;0","5;1","0;0","0;0","0;0",1,1,0,1,3,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5710C>T","NM_152263.3",null,null,"Intron","rs545370946",25,{"$nulls":8},"T"]
["02160816100201_XZ",154128580,1,"T","CT",8,"0;0","0;3","0;0","5;0","0;0","0;0",1,1,0,1,5,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5709A>G","NM_152263.3",null,null,"Intron",null,37.5,{"$nulls":8},"G"]
["02160816100201_XZ",154128603,1,"G","AG",8,"0;2","0;0","5;1","0;0","0;0","0;0",1,1,0,0,1,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5686C>T","NM_152263.3",null,null,"Intron",null,25,{"$nulls":8},"T"]
["02160816100201_XZ",154128672,1,"G","AA",22,"17;5","0;0","0;0","0;0","0;0","0;0",0,1,0,0,1711,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5617C>T","NM_152263.3",null,null,"Intron","rs4540651",100,{"$nulls":8},"T"]
["02160816100201_XZ",154129128,1,"A","AC",60,"13;16","13;17","0;0","0;0","0;0","0;1",0,1,0,0,1,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+5161T>G","NM_152263.3",null,null,"Intron",null,50,{"$nulls":8},"G"]
["02160816100201_XZ",154130484,1,"G","AG",366,"80;99","0;0","78;108","1;0","0;0","0;0",0,1,0,0,544,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*6124+3805C>T","NM_152263.3",null,null,"Intron","rs78171973",48.91,{"$nulls":8},"T"]
["02160816100201_XZ",154134841,1,"A","delAA",52,"10;5","0;1","0;0","1;0","0;0","30;5",0,0,0,0,878,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*5571_*5572delTT","NM_152263.3",null,null,"Intron","rs543597839",67.31,{"$nulls":8},"delTT"]
["02160816100201_XZ",154134842,1,"A","-",60,"14;15","1;1","0;0","0;0","0;0","26;3",0,0,0,0,1070,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","-","NM_152263.3",null,null,"Intron","rs530896507,rs58289686",48.33,{"$nulls":8},"-"]
["02160816100201_XZ",154135445,1,"T","CC",65,"0;0","12;53","0;0","0;0","0;0","0;0",0,1,0,0,1271,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*4968A>G","NM_152263.3",null,null,"Intron","rs4446955",100,{"$nulls":8},"G"]
["02160816100201_XZ",154137165,1,"C","TT",56,"0;0","1;1","0;0","35;19","0;0","0;0",0,1,0,0,1225,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*3248G>A","NM_152263.3",null,null,"Intron","rs12026177",96.43,{"$nulls":8},"A"]
["02160816100201_XZ",154137685,1,"C","CT",9,"0;0","1;6","0;0","0;2","0;0","0;0",1,1,0,1,1,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*2728G>A","NM_152263.3",null,null,"Intron",null,22.22,{"$nulls":8},"A"]
["02160816100201_XZ",154137687,1,"G","AG",6,"0;2","0;0","1;3","0;0","0;0","0;0",1,1,0,1,2,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*2726C>T","NM_152263.3",null,null,"Intron",null,33.33,{"$nulls":8},"T"]
["02160816100201_XZ",154137690,1,"C","CT",6,"0;0","1;3","0;0","0;2","0;0","0;0",1,1,0,1,11,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*2723G>A","NM_152263.3",null,null,"Intron","rs954202617",33.33,{"$nulls":8},"A"]
["02160816100201_XZ",154137691,1,"G","CG",6,"0;0","0;2","1;3","0;0","0;0","0;0",1,1,0,1,14,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*2722C>G","NM_152263.3",null,null,"Intron",null,33.33,{"$nulls":8},"G"]
["02160816100201_XZ",154137710,1,"C","CT",5,"0;0","1;2","0;0","0;2","0;0","0;0",1,1,0,1,14,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*2703G>A","NM_152263.3",null,null,"Intron",null,40,{"$nulls":8},"A"]
["02160816100201_XZ",154137714,1,"T","CT",4,"0;0","0;2","0;0","1;1","0;0","0;0",1,1,0,1,5,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*2699A>G","NM_152263.3",null,null,"Intron",null,50,{"$nulls":8},"G"]
["02160816100201_XZ",154138105,1,"T","AT",9,"0;3","0;0","0;0","0;6","0;0","0;0",1,1,0,1,11,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*2308A>T","NM_152263.3",null,null,"Intron",null,33.33,{"$nulls":8},"T"]
["02160816100201_XZ",154138108,1,"T","insAT",9,"0;0","0;0","0;0","0;9","0;2","0;0",1,1,0,1,1,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*2305_*2306insAT","NM_152263.3",null,null,"Intron",null,22.22,{"$nulls":8},"insAT"]
["02160816100201_XZ",154138266,1,"A","delA",17,"6;1","1;0","0;0","0;0","0;0","9;0",0,1,0,0,1231,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*2147delT","NM_152263.3",null,null,"Intron","rs68185418",52.94,{"$nulls":8},"delT"]
["02160816100201_XZ",154139166,1,"T","insTT",40,"0;0","0;0","0;0","15;19","2;14","3;3",0,0,1,0,632,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*1247_*1248insAA","NM_152263.3",null,null,"Intron","rs373439338,rs72189266",40,{"$nulls":8},"insAA"]
["02160816100201_XZ",154139178,1,"G","GT",37,"0;0","0;0","6;19","11;0","0;0","1;0",0,1,0,1,162,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*1235C>A","NM_152263.3",null,null,"Intron","rs201432957",29.73,{"$nulls":8},"A"]
["02160816100201_XZ",154139179,1,"A","AT",33,"6;19","0;0","0;0","8;0","0;0","0;0",0,1,0,1,33,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*1234T>A","NM_152263.3",null,null,"Intron",null,24.24,{"$nulls":8},"A"]
["02160816100201_XZ",154139205,1,"T","CT",14,"0;0","3;0","0;0","1;10","0;0","0;0",0,1,0,0,1,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.*1208A>G","NM_152263.3",null,null,"Intron",null,21.43,{"$nulls":8},"G"]
["02160816100201_XZ",154141908,1,"A","GG",175,"3;2","1;0","50;119","0;0","0;0","0;0",0,1,0,0,7861,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.776-49T>C","NM_152263.3",null,null,"Intron","rs4845364",96.57,{"$nulls":8},"C"]
["02160816100201_XZ",154145532,1,"C","GG",311,"0;0","1;1","131;178","0;0","0;0","0;0",0,1,0,0,5265,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.495+28G>C","NM_152263.3",null,null,"Intron","rs28372838",99.36,{"$nulls":8},"C"]
["02160816100201_XZ",154164082,1,"C","CT",179,"0;1","62;43","0;0","41;32","0;0","0;0",0,1,0,0,3917,"Unknown","AR/AD","MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 1 (OMIM:609284)","TPM3","c.118-295G>A","NM_152263.3",null,null,"Intron","rs3811455",40.78,{"$nulls":8},"A"]
["02160816100201_XZ",154377898,1,"G","AG",63,"13;23","0;0","9;18","0;0","0;0","0;0",0,1,0,0,61,"Unknown",null,"N/A","LOC101928101","c.-208C>T","XR_241131.1",null,null,"Intron","rs4845617",57.14,{"$nulls":8},"T"]
["02160816100201_XZ",154437896,1,"T","CC",401,"0;1","170;226","1;1","0;2","0;0","0;0",0,0,0,0,6950,"regulatory","N/A","N/A","IL6R","c.*40T>C","NM_000565.3",null,null,"Intron","rs2229238",98.75,{"$nulls":4},0.7969,0.8065,"T",0.2031,"C",0.7969,"CR034762","null","regulatory","DP","IncreasedBMI, association with"]
["02160816100201_XZ",154438084,1,"C","TT",374,"1;0","1;1","2;0","203;164","0;0","2;0",0,0,0,0,2971,"Unknown","N/A","N/A","IL6R","c.*228C>T","NM_000565.3",null,null,"Intron","rs7514452",98.13,{"$nulls":6},"C",0.2053,"T",0.7947]
["02160816100201_XZ",154438880,1,"T","CC",104,"0;2","41;60","0;0","0;1","0;0","0;0",0,0,0,0,1028,"Unknown","N/A","N/A","IL6R","c.*1024T>C","NM_000565.3",null,null,"Intron","rs4072391",97.12,{"$nulls":6},"T",0.2448,"C",0.7552]
["02160816100201_XZ",154439865,1,"T","AA",187,"93;93","0;0","0;0","1;0","0;0","0;0",0,0,0,0,1005,"Unknown","N/A","N/A","IL6R","c.*2009T>A","NM_000565.3",null,null,"Intron","rs4379670",99.47,{"$nulls":6},"T",0.2041,"A",0.7959]
["02160816100201_XZ",154441857,1,"T","delT",55,"0;0","0;0","0;0","0;5","0;0","28;22",0,0,0,0,926,"Unknown","N/A","N/A","IL6R","c.*4009delT","NM_000565.3",null,null,"Intron","rs11292096,rs397764790,rs398074318",90.91,{"$nulls":8},"delT"]
["02160816100201_XZ",154675174,1,"C","delC",19,"0;0","4;10","0;0","0;0","0;0","5;0",0,1,0,0,1,"Unknown","N/A","N/A","KCNN3","c.*5278delG","NM_002249.5",null,null,"Intron",null,26.32,{"$nulls":8},"delG"]
["02160816100201_XZ",154675190,1,"T","GG",3,"0;0","0;0","3;0","0;0","0;0","0;0",1,1,0,0,3,"Unknown","N/A","N/A","KCNN3","c.*5262A>C","NM_002249.5",null,null,"Intron","rs1004340060",100,{"$nulls":8},"C"]
["02160816100201_XZ",154677269,1,"G","GT",12,"0;0","0;0","0;8","4;0","0;0","0;0",0,1,0,0,7,"Unknown","N/A","N/A","KCNN3","c.*3183C>A","NM_002249.5",null,null,"Intron",null,33.33,{"$nulls":8},"A"]
["02160816100201_XZ",154677536,1,"C","CT",76,"0;0","26;5","0;0","32;13","0;0","0;0",0,1,0,0,8,"Unknown","N/A","N/A","KCNN3","c.*2916G>A","NM_002249.5",null,null,"Intron","rs191279585",59.21,{"$nulls":8},"A"]
["02160816100201_XZ",154678250,1,"G","AA",290,"139;150","0;0","0;0","0;0","0;0","0;1",0,1,0,0,852,"Unknown","N/A","N/A","KCNN3","c.*2202C>T","NM_002249.5",null,null,"Intron","rs1506984",99.66,{"$nulls":8},"T"]
["02160816100201_XZ",154678986,1,"C","TT",202,"1;0","0;4","2;0","106;89","0;0","0;0",0,1,0,0,761,"Unknown","N/A","N/A","KCNN3","c.*1466G>A","NM_002249.5",null,null,"Intron","rs7543897",96.53,{"$nulls":8},"A"]
["02160816100201_XZ",154679567,1,"C","TT",224,"0;0","0;5","0;0","138;81","0;0","0;0",0,1,0,0,787,"Unknown","N/A","N/A","KCNN3","c.*885G>A","NM_002249.5",null,null,"Intron","rs1995662",97.77,{"$nulls":8},"A"]
["02160816100201_XZ",154679902,1,"T","insT",64,"0;0","0;0","0;1","27;36","11;16","0;0",0,0,0,0,686,"Unknown","N/A","N/A","KCNN3","c.*550_*551insA","NM_002249.5",null,null,"Intron","rs397769326,rs541253993,rs5777927",42.19,{"$nulls":8},"insA"]
["02160816100201_XZ",154744807,1,"C","CG",377,"0;0","80;110","80;107","0;0","0;0","0;0",0,0,0,0,5175,"Synonymous","N/A","N/A","KCNN3","c.1092G>C","NM_002249.5","CDS3","p.L364L","Exon","rs1051614",49.6,{"$nulls":8},"C"]
["02160816100201_XZ",154744852,1,"A","GG",318,"3;0","0;0","116;199","0;0","0;0","0;0",0,1,0,0,7020,"Synonymous","N/A","N/A","KCNN3","c.1047T>C","NM_002249.5","CDS3","p.N349N","Exon","rs1131820",99.06,{"$nulls":8},"C"]
["02160816100201_XZ",154832304,1,"T","CC",248,"0;0","95;153","0;0","0;0","0;0","0;0",0,1,0,0,6800,"Unknown","N/A","N/A","KCNN3","c.933+9204A>G","NM_002249.5",null,null,"Intron","rs4845397",100,{"$nulls":8},"G"]
["02160816100201_XZ",154832322,1,"A","CC",243,"1;0","94;148","0;0","0;0","0;0","0;0",0,1,0,0,6803,"Unknown","N/A","N/A","KCNN3","c.933+9186T>G","NM_002249.5",null,null,"Intron","rs1218586",99.59,{"$nulls":8},"G"]
["02160816100201_XZ",154842200,1,"G","insGCTGCTGCTGCT",225,"0;1","0;0","70;153","0;0","7;45","0;1",0,1,0,0,1539,"In-frame","N/A","N/A","KCNN3","c.241_242insAGCAGCAGCAGC","NM_002249.5","CDS1","p.Q80_P81insQQQQ","Exon","rs3831942,rs56352724",23.11,{"$nulls":8},"insAGCAGCAGCAGC"]
["02160816100201_XZ",154842243,1,"A","AC",147,"30;65","17;34","0;0","0;1","0;0","0;0",0,1,0,1,5741,"Synonymous","N/A","N/A","KCNN3","c.198T>G","NM_002249.5","CDS1","p.L66L","Exon","rs768411824",34.69,{"$nulls":8},"G"]
["02160816100201_XZ",154842244,1,"A","AT",147,"30;65","0;0","0;0","17;35","0;0","0;0",0,0,0,1,5582,"Nonsynonymous","N/A","N/A","KCNN3","c.197T>A","NM_002249.5","CDS1","p.L66H","Exon","rs776143138",35.37,"NA","NA",0.0247,0.1352,{"$nulls":4},"A",{"$nulls":6},"D",".",".","D",0.46,".","."]
["02160816100201_XZ",155161467,1,"C","CG",5,"0;0","0;3","2;0","0;0","0;0","0;0",1,1,0,0,589,"Unknown","N/A","MEDULLARY CYSTIC KIDNEY DISEASE 1 (OMIM:174000)","MUC1","c.159+507G>C","NM_002456.5",null,null,"Intron","rs865801316",40,{"$nulls":8},"C"]
["02160816100201_XZ",155161498,1,"T","GT",7,"0;0","0;0","0;2","3;2","0;0","0;0",1,1,0,0,2,"Unknown","N/A","MEDULLARY CYSTIC KIDNEY DISEASE 1 (OMIM:174000)","MUC1","c.159+476A>C","NM_002456.5",null,null,"Intron",null,28.57,{"$nulls":8},"C"]
["02160816100201_XZ",155161527,1,"C","CG",5,"0;0","0;3","1;1","0;0","0;0","0;0",1,1,0,0,308,"Unknown","N/A","MEDULLARY CYSTIC KIDNEY DISEASE 1 (OMIM:174000)","MUC1","c.159+447G>C","NM_002456.5",null,null,"Intron",null,40,{"$nulls":8},"C"]
["02160816100201_XZ",155162067,1,"C","TT",256,"0;0","1;1","1;0","96;157","0;0","0;0",0,1,0,0,6833,"Synonymous","N/A","MEDULLARY CYSTIC KIDNEY DISEASE 1 (OMIM:174000)","MUC1","c.66G>A","NM_002456.5","CDS2","p.T22T","Exon","rs4072037",98.83,{"$nulls":8},"A"]
["02160816100201_XZ",155205669,1,"G","TT",364,"0;0","0;1","0;0","130;233","0;0","0;0",0,1,0,0,8054,"Unknown","略","GAUCHER DISEASE, TYPE II (OMIM:230900), GAUCHER DISEASE, TYPE III (OMIM:231000), GAUCHER DISEASE, TYPE IIIC (OMIM:231005), GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013), GAUCHER DISEASE, TYPE I (OMIM:230800)","GBA","c.1225-34C>A","NM_001005741.2",null,null,"Intron","rs3115534",99.73,{"$nulls":8},"A"]
["02160816100201_XZ",155209360,1,"C","TT",116,"0;0","0;0","1;0","88;27","0;0","0;0",0,1,0,0,7491,"Unknown","略","GAUCHER DISEASE, TYPE II (OMIM:230900), GAUCHER DISEASE, TYPE III (OMIM:231000), GAUCHER DISEASE, TYPE IIIC (OMIM:231005), GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013), GAUCHER DISEASE, TYPE I (OMIM:230800)","GBA","c.454+47G>A","NM_001005741.2",null,null,"Intron","rs2075569",99.14,{"$nulls":8},"A"]
["02160816100201_XZ",155214473,1,"A","GG",226,"0;2","0;0","115;109","0;0","0;0","0;0",0,1,0,0,1965,"Unknown","略","GAUCHER DISEASE, TYPE II (OMIM:230900), GAUCHER DISEASE, TYPE III (OMIM:231000), GAUCHER DISEASE, TYPE IIIC (OMIM:231005), GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013), GAUCHER DISEASE, TYPE I (OMIM:230800)","GBA","c.-245T>C","NM_001005741.2",null,null,"Intron","rs12034326",99.12,{"$nulls":8},"C"]
["02160816100201_XZ",155214641,1,"G","delGA",106,"0;0","0;0","17;27","0;0","0;0","14;48",0,0,0,0,1633,"Unknown","略","GAUCHER DISEASE, TYPE II (OMIM:230900), GAUCHER DISEASE, TYPE III (OMIM:231000), GAUCHER DISEASE, TYPE IIIC (OMIM:231005), GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013), GAUCHER DISEASE, TYPE I (OMIM:230800)","GBA","c.-414_-413delTC","NM_001005741.2",null,null,"Intron","rs33949225,rs34732744,rs3841430,rs757184315,rs771162499,rs936756088",58.49,{"$nulls":8},"delTC"]
["02160816100201_XZ",155214642,1,"A","-",106,"15;27","1;0","1;0","0;0","0;0","14;48",0,0,0,0,1650,"Unknown","略","GAUCHER DISEASE, TYPE II (OMIM:230900), GAUCHER DISEASE, TYPE III (OMIM:231000), GAUCHER DISEASE, TYPE IIIC (OMIM:231005), GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013), GAUCHER DISEASE, TYPE I (OMIM:230800)","GBA","-","NM_001005741.2",null,null,"Intron",null,58.49,{"$nulls":8},"-"]
["02160816100201_XZ",155247707,1,"G","TT",133,"0;0","0;0","0;0","42;91","0;0","0;0",0,0,0,0,2462,"Unknown",null,"N/A","HCN3","c.278+48G>T","NM_020897.2",null,null,"Intron","rs12749306",100,{"$nulls":6},"T",0.3836,"T",0.3836]
["02160816100201_XZ",155252681,1,"A","AG",9,"2;5","0;0","0;2","0;0","0;0","0;0",1,1,0,0,168,"Unknown",null,"N/A","HCN3","c.708+50A>G","NM_020897.2",null,null,"Intron",null,22.22,{"$nulls":8},"G"]
["02160816100201_XZ",155258752,1,"G","AA",413,"192;217","0;1","1;2","0;0","0;0","0;0",0,0,0,1,645,"Unknown",null,"N/A","HCN3","c.*498G>A","NM_020897.2",null,null,"Intron","rs3814319",99.03,{"$nulls":6},"G",0.4896,"A",0.5104]
["02160816100201_XZ",155258756,1,"C","TT",414,"0;0","1;3","0;1","185;224","0;0","0;0",0,0,0,1,645,"Unknown",null,"N/A","HCN3","c.*502C>T","NM_020897.2",null,null,"Intron","rs3814318",98.79,{"$nulls":6},"T",0.4381,"T",0.4381]
["02160816100201_XZ",155259323,1,"C","TT",321,"2;0","0;0","0;0","146;172","0;0","1;0",0,0,0,0,82,"Unknown",null,"N/A","HCN3","c.*1069C>T","NM_020897.2",null,null,"Intron","rs8847",99.07,{"$nulls":6},"T",0.4385,"T",0.4385]
["02160816100201_XZ",155306152,1,"A","insACAC",12,"4;7","0;0","0;0","0;0","3;2","0;1",0,0,0,0,543,"Unknown","N/A","N/A","ASH1L","c.*1299_*1300insGTGT","NM_018489.2",null,null,"Intron","rs148726843",41.67,{"$nulls":8},"insGTGT"]
["02160816100201_XZ",155385753,1,"A","AG",12,"0;9","0;0","3;0","0;0","0;0","0;0",0,1,0,1,34,"Unknown","N/A","N/A","ASH1L","c.5829-39T>C","NM_018489.2",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",155385755,1,"A","delAAGTTT",11,"0;8","0;0","0;0","0;0","0;0","3;0",0,1,0,1,0,"Unknown","N/A","N/A","ASH1L","c.5829-46_5829-41delAAACTT","NM_018489.2",null,null,"Intron",null,27.27,{"$nulls":8},"delAAACTT"]
["02160816100201_XZ",155385756,1,"A","-",11,"0;8","0;0","0;0","0;0","0;0","3;0",0,1,0,1,0,"Unknown","N/A","N/A","ASH1L","-","NM_018489.2",null,null,"Intron",null,27.27,{"$nulls":8},"-"]
["02160816100201_XZ",155385757,1,"G","-",11,"0;0","0;0","0;8","0;0","0;0","3;0",0,1,0,1,0,"Unknown","N/A","N/A","ASH1L","-","NM_018489.2",null,null,"Intron",null,27.27,{"$nulls":8},"-"]
["02160816100201_XZ",155385758,1,"T","-",11,"0;0","0;0","0;0","0;8","0;0","3;0",0,1,0,1,0,"Unknown","N/A","N/A","ASH1L","-","NM_018489.2",null,null,"Intron",null,27.27,{"$nulls":8},"-"]
["02160816100201_XZ",155385759,1,"T","-",11,"0;0","0;0","0;0","0;8","0;0","3;0",0,1,0,1,5,"Unknown","N/A","N/A","ASH1L","-","NM_018489.2",null,null,"Intron",null,27.27,{"$nulls":8},"-"]
["02160816100201_XZ",155385760,1,"T","-",11,"0;0","0;0","0;0","0;8","0;0","3;0",0,1,0,1,0,"Unknown","N/A","N/A","ASH1L","-","NM_018489.2",null,null,"Intron",null,27.27,{"$nulls":8},"-"]
["02160816100201_XZ",155385763,1,"C","CG",11,"0;0","0;8","3;0","0;0","0;0","0;0",0,1,0,1,42,"Unknown","N/A","N/A","ASH1L","c.5829-49G>C","NM_018489.2",null,null,"Intron",null,27.27,{"$nulls":8},"C"]
["02160816100201_XZ",155385764,1,"T","GT",11,"0;0","0;0","3;0","0;8","0;0","0;0",0,1,0,1,15,"Unknown","N/A","N/A","ASH1L","c.5829-50A>C","NM_018489.2",null,null,"Intron",null,27.27,{"$nulls":8},"C"]
["02160816100201_XZ",155408635,1,"T","CC",263,"1;1","128;133","0;0","0;0","0;0","0;0",0,1,0,0,6835,"Nonsynonymous","N/A","N/A","ASH1L","c.5311A>G","NM_018489.2","CDS4","p.T1771A","Exon","rs4971053",99.24,0.9542,1,0.9869,1,{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-0.762,".","."]
["02160816100201_XZ",155429725,1,"A","CC",62,"0;0","26;35","1;0","0;0","0;0","0;0",0,1,0,0,6349,"Unknown","N/A","N/A","ASH1L","c.4985-36T>G","NM_018489.2",null,null,"Intron","rs10908466",98.39,{"$nulls":8},"G"]
["02160816100201_XZ",155532316,1,"T","CC",71,"0;0","17;54","0;0","0;0","0;0","0;0",0,1,0,1,3230,"Unknown","N/A","N/A","ASH1L","c.-472A>G","NM_018489.2",null,null,"Intron","rs12403379",100,{"$nulls":8},"G"]
["02160816100201_XZ",155532325,1,"T","CC",70,"0;0","16;54","0;0","0;0","0;0","0;0",0,0,0,1,85,"Splice",null,"N/A","N/A","c.-480-1T>C",null,null,"Splice","Splice","rs12403380",100,{"$nulls":4},1,1,"T",0,"C",1]
["02160816100201_XZ",155532332,1,"T","CC",68,"0;0","17;51","0;0","0;0","0;0","0;0",0,0,0,1,85,"Unknown",null,"N/A","N/A","c.-480-8T>C",{"$nulls":3},"Intron","rs34869594",100,{"$nulls":4},0.9888,1,"T",0.01118,"C",0.9888]
["02160816100201_XZ",155532341,1,"T","CC",65,"0;0","17;44","0;0","0;4","0;0","0;0",0,0,0,1,3145,"Unknown",null,"N/A","ASH1L-AS1","c.-480-17T>C","NR_027023.1",null,null,"Intron","rs61812107",93.85,{"$nulls":4},1,1,"T",0,"C",1]
["02160816100201_XZ",155868311,1,"T","AA",4,"1;1","0;0","0;0","1;0","0;0","1;0",1,1,0,0,539,"Unknown",null,"NOONAN SYNDROME 8 (OMIM:615355)","RIT1","c.*1868A>T","NM_006912.5",null,null,"Intron","rs10908484",50,{"$nulls":8},"T"]
["02160816100201_XZ",155868336,1,"C","AA",2,"1;1","0;0","0;0","0;0","0;0","0;0",1,1,0,0,843,"Unknown",null,"NOONAN SYNDROME 8 (OMIM:615355)","RIT1","c.*1843G>T","NM_006912.5",null,null,"Intron","rs1974259",100,{"$nulls":8},"T"]
["02160816100201_XZ",155868625,1,"G","AA",39,"16;21","0;1","0;0","1;0","0;0","0;0",0,1,0,0,1213,"Unknown",null,"NOONAN SYNDROME 8 (OMIM:615355)","RIT1","c.*1554C>T","NM_006912.5",null,null,"Intron","rs2282301",94.87,{"$nulls":8},"T"]
["02160816100201_XZ",155868984,1,"T","CC",196,"0;0","96;99","0;0","1;0","0;0","0;0",0,1,0,0,1341,"Unknown",null,"NOONAN SYNDROME 8 (OMIM:615355)","RIT1","c.*1195A>G","NM_006912.5",null,null,"Intron","rs1055184",99.49,{"$nulls":8},"G"]
["02160816100201_XZ",155870416,1,"G","AA",220,"92;124","1;0","2;0","0;0","0;0","0;1",0,1,0,0,7355,"Unknown",null,"NOONAN SYNDROME 8 (OMIM:615355)","RIT1","c.430-7C>T","NM_006912.5",null,null,"Intron","rs1749409",98.18,{"$nulls":8},"T"]
["02160816100201_XZ",155880573,1,"C","GG",387,"0;0","0;2","198;187","0;0","0;0","0;0",0,1,0,0,7357,"Unknown",null,"NOONAN SYNDROME 8 (OMIM:615355)","RIT1","c.-21G>C","NM_006912.5",null,null,"Intron","rs493446",99.48,0.8063,0.9283,0.8769,0.9354,{"$nulls":4},"C",{"$nulls":6},"T",".",".","P",-1.836,".","."]
["02160816100201_XZ",156785617,1,"G","AA",305,"133;172","0;0","0;0","0;0","0;0","0;0",0,1,0,0,1112,"Unknown","N/A","N/A","SH2D2A","c.123+181C>T","NM_001161441.1",null,null,"Intron","rs1800601",100,{"$nulls":8},"T"]
["02160816100201_XZ",156845493,1,"G","delGTGT",120,"0;0","0;0","17;24","0;0","0;0","21;58",0,0,0,0,295,"Unknown","AR","INSENSITIVITY TO PAIN, CONGENITAL, WITH ... (OMIM:256800), THYROID CARCINOMA, FAMILIAL MEDULLARY (OMIM:155240)","NTRK1","c.1483+67_1483+70delGTGT","NM_001012331.1",null,null,"Intron","rs761074272,rs766543019",65.83,{"$nulls":8},"delGTGT"]
["02160816100201_XZ",156845494,1,"T","-",121,"0;1","0;1","0;0","17;23","0;0","21;58",0,0,0,0,4929,"Unknown","AR","INSENSITIVITY TO PAIN, CONGENITAL, WITH ... (OMIM:256800), THYROID CARCINOMA, FAMILIAL MEDULLARY (OMIM:155240)","NTRK1","-","NM_001012331.1",null,null,"Intron",null,65.29,{"$nulls":8},"-"]
["02160816100201_XZ",156845495,1,"G","-",121,"0;0","0;0","32;64","0;0","0;0","6;19",0,1,0,0,320,"Unknown","AR","INSENSITIVITY TO PAIN, CONGENITAL, WITH ... (OMIM:256800), THYROID CARCINOMA, FAMILIAL MEDULLARY (OMIM:155240)","NTRK1","-","NM_001012331.1",null,null,"Intron","rs761074272",20.66,{"$nulls":8},"-"]
["02160816100201_XZ",156845496,1,"T","-",120,"1;0","0;0","0;0","31;63","0;0","6;19",0,0,0,0,319,"Unknown","AR","INSENSITIVITY TO PAIN, CONGENITAL, WITH ... (OMIM:256800), THYROID CARCINOMA, FAMILIAL MEDULLARY (OMIM:155240)","NTRK1","-","NM_001012331.1",null,null,"Intron",null,20.83,{"$nulls":8},"-"]
["02160816100201_XZ",156846233,1,"G","AA",137,"78;54","0;0","2;0","2;0","0;0","0;1",0,0,0,0,4709,"Synonymous","AR","INSENSITIVITY TO PAIN, CONGENITAL, WITH ... (OMIM:256800), THYROID CARCINOMA, FAMILIAL MEDULLARY (OMIM:155240)","NTRK1","c.1656G>A","NM_001012331.1","CDS13","p.Q552Q","Exon","rs6334",96.35,{"$nulls":6},"A",0.2129,"A",0.2129]
["02160816100201_XZ",159683091,1,"G","AG",244,"87;29","0;1","88;37","1;1","0;0","0;0",0,1,0,0,140,"regulatory","N/A","N/A","CRP","c.*224C>T","NM_000567.2",null,null,"Intron","rs1130864",47.54,{"$nulls":8},"T",null,"CR033142","null","regulatory","DFP","IncreasedCRP level"]
["02160816100201_XZ",159684186,1,"T","AT",161,"41;33","0;0","0;2","54;31","0;0","0;0",0,0,0,0,743,"Unknown","N/A","N/A","CRP","c.61+29A>T","NM_000567.2",null,null,"Intron","rs1417938",45.96,{"$nulls":8},"T"]
["02160816100201_XZ",159998440,1,"G","AG",43,"7;16","0;0","8;12","0;0","0;0","0;0",0,1,0,0,748,"Unknown","N/A","GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY (OMIM:610293)","PIGM","c.*1818C>T","NM_145167.2",null,null,"Intron","rs2275404",53.49,{"$nulls":8},"T"]
["02160816100201_XZ",159998580,1,"A","delA",37,"1;0","0;1","2;0","1;0","0;0","19;13",0,0,0,0,1414,"Unknown","N/A","GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY (OMIM:610293)","PIGM","c.*1678delT","NM_145167.2",null,null,"Intron","rs3215992,rs397776374,rs76820117",86.49,{"$nulls":8},"delT"]
["02160816100201_XZ",159999186,1,"T","delTT",21,"0;0","0;0","1;0","6;6","0;1","1;7",0,1,0,0,158,"Unknown","N/A","GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY (OMIM:610293)","PIGM","c.*1071_*1072delAA","NM_145167.2",null,null,"Intron","rs557841057",38.1,{"$nulls":8},"delAA"]
["02160816100201_XZ",159999187,1,"T","-",21,"0;0","1;0","0;0","6;8","0;0","1;5",0,1,0,0,174,"Unknown","N/A","GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY (OMIM:610293)","PIGM","-","NM_145167.2",null,null,"Intron",null,28.57,{"$nulls":8},"-"]
["02160816100201_XZ",160009121,1,"A","AC",128,"36;14","50;27","1;0","0;0","0;0","0;0",0,1,0,0,888,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","c.*2062T>G","NM_002241.4",null,null,"Intron","rs1053074",60.16,{"$nulls":8},"G"]
["02160816100201_XZ",160009143,1,"G","CC",139,"0;1","91;46","0;1","0;0","0;0","0;0",0,1,0,0,1748,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","c.*2040C>G","NM_002241.4",null,null,"Intron","rs2486254",98.56,{"$nulls":8},"G"]
["02160816100201_XZ",160009164,1,"A","delACACACACACACAC",161,"42;15","0;0","0;0","0;1","0;0","47;56",0,0,0,0,104,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","c.*2006_*2019delGTGTGTGTGTGTGT","NM_002241.4",null,null,"Intron","rs146422203,rs374594439,rs72013077,rs771719546,rs777546653,rs886045403,rs886045404",63.98,{"$nulls":8},"delGTGTGTGTGTGTGT"]
["02160816100201_XZ",160009165,1,"C","-",161,"0;1","41;12","0;0","1;3","1;0","47;56",0,0,0,0,1246,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron",null,63.98,{"$nulls":8},"-"]
["02160816100201_XZ",160009166,1,"A","-",162,"48;25","0;0","1;0","0;1","0;0","40;47",0,0,0,0,997,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron","rs146422203,rs374594439,rs771719546,rs777546653,rs886045403,rs886045404",53.7,{"$nulls":8},"-"]
["02160816100201_XZ",160009167,1,"C","-",160,"1;0","45;22","2;2","0;1","0;0","40;47",0,0,0,0,997,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron",null,54.38,{"$nulls":8},"-"]
["02160816100201_XZ",160009168,1,"A","-",158,"51;29","0;1","1;0","0;0","0;0","35;41",0,0,0,0,652,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron","rs146422203,rs771719546,rs777546653,rs886045403,rs886045404",48.1,{"$nulls":8},"-"]
["02160816100201_XZ",160009169,1,"C","-",154,"3;0","44;31","0;0","0;0","0;0","35;41",0,0,0,0,651,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron",null,49.35,{"$nulls":8},"-"]
["02160816100201_XZ",160009170,1,"A","-",154,"46;30","0;1","1;1","1;0","0;0","34;40",0,0,0,0,404,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron","rs146422203,rs771719546,rs777546653,rs886045403",48.05,{"$nulls":8},"-"]
["02160816100201_XZ",160009171,1,"C","-",152,"1;1","46;30","0;0","0;0","0;0","34;40",0,0,0,0,375,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron",null,48.68,{"$nulls":8},"-"]
["02160816100201_XZ",160009172,1,"A","-",151,"45;29","0;0","2;0","0;1","0;0","34;40",0,0,0,0,153,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron","rs146422203,rs771719546",49.01,{"$nulls":8},"-"]
["02160816100201_XZ",160009173,1,"C","-",151,"1;0","44;30","2;0","0;0","0;0","34;40",0,0,0,0,153,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron",null,49.01,{"$nulls":8},"-"]
["02160816100201_XZ",160009174,1,"A","-",151,"46;29","0;0","0;0","1;1","0;0","34;40",0,0,0,0,121,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron","rs771719546",49.01,{"$nulls":8},"-"]
["02160816100201_XZ",160009175,1,"C","-",149,"0;0","45;28","0;0","1;1","0;0","34;40",0,0,0,0,121,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron",null,49.66,{"$nulls":8},"-"]
["02160816100201_XZ",160009176,1,"A","-",148,"44;31","1;0","0;0","0;0","0;0","34;38",0,0,0,0,116,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron",null,48.65,{"$nulls":8},"-"]
["02160816100201_XZ",160009177,1,"C","-",149,"0;0","45;30","1;1","0;0","0;0","34;38",0,0,0,0,116,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","-","NM_002241.4",null,null,"Intron",null,48.32,{"$nulls":8},"-"]
["02160816100201_XZ",160009419,1,"A","CC",171,"2;0","89;80","0;0","0;0","0;0","0;0",0,1,0,0,1688,"Unknown",null,"ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791), SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA... (OMIM:612780)","KCNJ10","c.*1764T>G","NM_002241.4",null,null,"Intron","rs2486253",98.83,{"$nulls":8},"G"]
["02160816100201_XZ",160057538,1,"T","GT",26,"0;0","0;0","2;4","20;0","0;0","0;0",0,1,0,0,569,"Synonymous",null,"N/A","KCNJ9","c.1113T>G","NM_004983.2","CDS2","p.G371G","Exon","rs755899077",23.08,{"$nulls":8},"G"]
["02160816100201_XZ",160057964,1,"C","CT",225,"0;0","51;51","1;0","61;60","0;0","1;0",0,0,0,0,741,"Unknown",null,"N/A","KCNJ9","c.*357C>T","NM_004983.2",null,null,"Intron","rs2737705",53.78,{"$nulls":6},"T",0.3658,"T",0.3658]
["02160816100201_XZ",160058000,1,"C","CT",226,"0;0","52;48","0;0","64;61","0;0","0;1",0,0,0,0,296,"Unknown",null,"N/A","KCNJ9","c.*393C>T","NM_004983.2",null,null,"Intron","rs8192543",55.31,{"$nulls":6},"T",0.09485,"T",0.09485]
["02160816100201_XZ",160187173,1,"A","GG",311,"1;0","0;3","171;136","0;0","0;0","0;0",0,1,0,0,1440,"Unknown",null,"GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMIN... (OMIM:610100)","DCAF8","c.*209T>C","NM_015726.3",null,null,"Intron","rs11265357",98.71,{"$nulls":8},"C"]
["02160816100201_XZ",161011052,1,"A","insA",52,"28;16","0;0","0;0","0;1","15;0","6;1",0,1,0,0,150,"Unknown","N/A","N/A","USF1","c.560+62_560+63insT","NM_007122.4",null,null,"Intron",null,28.85,{"$nulls":8},"insT"]
["02160816100201_XZ",161136224,1,"C","AC",583,"130;128","165;157","1;0","0;2","0;0","0;0",0,0,0,0,1133,"Unknown","AD","PORPHYRIA VARIEGATA (OMIM:176200)","PPOX","c.-186C>A","NM_000309.3",null,null,"Intron","rs2301286",44.25,{"$nulls":6},"A",0.3592,"A",0.3592]
["02160816100201_XZ",161136843,1,"C","CG",372,"0;0","117;78","102;75","0;0","0;0","0;0",0,0,0,0,4700,"Unknown","AD","PORPHYRIA VARIEGATA (OMIM:176200)","PPOX","c.88-47C>G","NM_000309.3",null,null,"Intron","rs2301287",47.58,{"$nulls":6},"G",0.3534,"G",0.3534]
["02160816100201_XZ",161139738,1,"G","AG",165,"28;48","0;0","38;51","0;0","0;0","0;0",0,0,0,0,597,"Nonsynonymous","AD","PORPHYRIA VARIEGATA (OMIM:176200)","PPOX","c.911G>A","NM_000309.3","CDS8","p.R304H","Exon","rs36013429",46.06,0.0476,0.0629,0.0588,0.0612,0.0489,0.0675,"A",0.04892,"A",0.04892,{"$nulls":5},".,T",".,B",".,B","N",-0.142,".","."]
["02160816100201_XZ",161172233,1,"C","AC",327,"54;109","58;105","0;0","0;0","0;0","1;0",0,0,0,0,683,"Nonsynonymous","AR","MITOCHONDRIAL COMPLEX I DEFICIENCY (OMIM:252010)","NDUFS2","c.58C>A","NM_004550.4","CDS1","p.P20T","Exon","rs11538340",49.85,0.0719,0.0787,0.0865,0.0723,null,null,"A",0.08646,"A",0.08646,{"$nulls":5},"D,T","B","B","P",0.655,".","."]
["02160816100201_XZ",161179877,1,"G","AG",247,"58;64","0;0","68;57","0;0","0;0","0;0",0,0,0,0,4807,"Unknown","AR","MITOCHONDRIAL COMPLEX I DEFICIENCY (OMIM:252010)","NDUFS2","c.703-24G>A","NM_004550.4",null,null,"Intron","rs4656994",49.39,{"$nulls":4},0.2646,0.4315,"A",0.2646,"A",0.2646]
["02160816100201_XZ",161184060,1,"T","insTG",147,"0;0","0;0","0;0","57;82","29;34","5;3",0,0,1,0,5907,"Unknown","AR","MITOCHONDRIAL COMPLEX I DEFICIENCY (OMIM:252010)","NDUFS2","c.*107_*108insGT","NM_004550.4",null,null,"Intron","rs10629771,rs886045466",42.86,{"$nulls":8},"insGT"]
["02160816100201_XZ",161184097,1,"A","AG",126,"31;36","0;1","25;32","1;0","0;0","0;0",0,0,0,0,4106,"Unknown","AR","MITOCHONDRIAL COMPLEX I DEFICIENCY (OMIM:252010)","NDUFS2","c.*114A>G","NM_004550.4",null,null,"Intron","rs1136224",45.24,{"$nulls":6},"G",0.1821,"G",0.1821]
["02160816100201_XZ",161192316,1,"G","AG",336,"56;71","0;1","96;111","1;0","0;0","0;0",0,1,0,0,1902,"Unknown","1.NA/2.AD","N/A","APOA2","c.186-4C>T","NM_001643.1",null,null,"Intron","rs6413453",37.8,{"$nulls":8},"T"]
["02160816100201_XZ",161192846,1,"C","delCACACACACA",143,"0;0","29;16","0;0","0;0","0;0","18;80",0,0,0,0,1352,"Unknown","1.NA/2.AD","N/A","APOA2","c.53-15_53-6delTGTGTGTGTG","NM_001643.1",null,null,"Intron","rs141599125,rs17244502,rs72374375,rs745859273,rs746756357,rs748263937,rs753413807,rs755832871,rs758323947,rs763634745,rs776675749,rs778830492,rs796774011,rs878924277",68.53,{"$nulls":8},"delTGTGTGTGTG"]
["02160816100201_XZ",161192847,1,"A","-",143,"29;16","0;0","0;0","0;0","0;0","18;80",0,0,0,0,6896,"Unknown","1.NA/2.AD","N/A","APOA2","-","NM_001643.1",null,null,"Intron","rs748263937",68.53,{"$nulls":8},"-"]
["02160816100201_XZ",161192848,1,"C","-",141,"0;0","29;14","0;0","0;0","0;0","18;80",0,0,0,0,6878,"Unknown","1.NA/2.AD","N/A","APOA2","-","NM_001643.1",null,null,"Intron","rs141599125,rs17244502,rs72374375,rs745859273,rs753413807,rs755832871,rs758323947,rs763634745,rs769937010,rs773412538,rs776675749,rs878924277",69.5,{"$nulls":8},"-"]
["02160816100201_XZ",161192849,1,"A","-",139,"27;14","0;0","0;0","0;0","0;0","18;80",0,0,0,0,6877,"Unknown","1.NA/2.AD","N/A","APOA2","-","NM_001643.1",null,null,"Intron",null,70.5,{"$nulls":8},"-"]
["02160816100201_XZ",161192850,1,"C","-",138,"0;0","26;14","0;0","1;0","0;0","18;79",0,0,0,0,6835,"Unknown","1.NA/2.AD","N/A","APOA2","-","NM_001643.1",null,null,"Intron","rs141599125,rs17244502,rs72374375,rs745859273,rs753413807,rs755832871,rs758323947,rs769937010,rs773412538,rs776675749",70.29,{"$nulls":8},"-"]
["02160816100201_XZ",161192851,1,"A","-",137,"26;14","0;0","0;0","0;0","0;0","18;79",0,0,0,0,6623,"Unknown","1.NA/2.AD","N/A","APOA2","-","NM_001643.1",null,null,"Intron",null,70.8,{"$nulls":8},"-"]
["02160816100201_XZ",161192852,1,"C","-",138,"0;0","28;36","0;0","0;0","0;0","16;58",0,0,0,0,4922,"Unknown","1.NA/2.AD","N/A","APOA2","-","NM_001643.1",null,null,"Intron","rs17244502,rs72374375,rs745859273,rs755832871,rs758323947,rs769937010,rs773412538,rs776675749",53.62,{"$nulls":8},"-"]
["02160816100201_XZ",161192853,1,"A","-",138,"28;36","0;0","0;0","0;0","0;0","16;58",0,0,0,0,4909,"Unknown","1.NA/2.AD","N/A","APOA2","-","NM_001643.1",null,null,"Intron",null,53.62,{"$nulls":8},"-"]
["02160816100201_XZ",161192854,1,"C","-",137,"0;0","34;51","0;0","0;0","0;0","10;42",0,0,0,0,4519,"Unknown","1.NA/2.AD","N/A","APOA2","-","NM_001643.1",null,null,"Intron","rs17244502,rs72374375,rs745859273,rs755832871,rs769937010,rs776675749",37.96,{"$nulls":8},"-"]
["02160816100201_XZ",161192855,1,"A","-",136,"34;49","0;1","0;0","0;0","0;0","10;42",0,0,0,0,4521,"Unknown","1.NA/2.AD","N/A","APOA2","-","NM_001643.1",null,null,"Intron","rs17244502,rs72374375,rs745859273,rs755832871,rs763622340,rs769937010,rs776675749",38.24,{"$nulls":8},"-"]
["02160816100201_XZ",161293496,1,"T","AT",11,"3;4","0;0","0;0","1;3","0;0","0;0",0,0,0,0,2338,"Unknown","N/A","PARAGANGLIOMAS 3 (OMIM:605373), GASTROINTESTINAL STROMAL TUMOR (OMIM:606764), CARNEY-STRATAKIS SYNDROME (OMIM:606864)","SDHC","c.77+36T>A","NM_003001.3",null,null,"Intron","rs117507008",63.64,{"$nulls":4},0.0944,0.247,"A",0.09445,"A",0.09445]
["02160816100201_XZ",161332106,1,"G","GT",44,"0;0","0;0","21;14","8;1","0;0","0;0",0,1,0,0,44,"Unknown","N/A","PARAGANGLIOMAS 3 (OMIM:605373), GASTROINTESTINAL STROMAL TUMOR (OMIM:606764), CARNEY-STRATAKIS SYNDROME (OMIM:606864)","SDHC","c.406-13G>T","NM_003001.3",null,null,"Intron","rs758615918",20.45,{"$nulls":8},"T"]
["02160816100201_XZ",161332382,1,"A","AT",125,"39;58","0;0","0;0","11;16","0;0","0;1",0,0,0,0,1674,"Unknown","N/A","PARAGANGLIOMAS 3 (OMIM:605373), GASTROINTESTINAL STROMAL TUMOR (OMIM:606764), CARNEY-STRATAKIS SYNDROME (OMIM:606864)","SDHC","c.*159A>T","NM_003001.3",null,null,"Intron","rs9887965",21.6,{"$nulls":8},"T"]
["02160816100201_XZ",161479745,1,"A","AG",240,"70;51","0;0","77;41","0;0","0;0","0;1",0,0,0,0,2277,"Nonsynonymous","N/A","N/A","FCGR2A","c.497A>G","NM_021642.3","CDS4","p.H166R","Exon","rs1801274",49.17,0.4304,0.278,0.4789,0.3274,0.4417,0.2778,"G",0.4417,"G",0.4417,"CM960640","NM_021642.3:c.497G-A","missense/nonsense","DFP","Lupusnephritis, protection against, association","T","B","B","P",-0.421,".","."]
["02160816100201_XZ",161483723,1,"G","AG",262,"22;63","0;1","78;98","0;0","1;0","0;0",0,0,0,0,640,"Splice","N/A","N/A","FCGR2A","c.777+1G>A","NM_021642.3",null,"Splice","Splice","rs409763",32.44,"NA","NA",1.8E-3,0.011,{"$nulls":4},"A",{"$nulls":6},".",".",".",".",0.561,".","."]
["02160816100201_XZ",161487805,1,"T","CT",208,"0;0","20;26","0;0","105;57","0;0","0;0",0,0,0,0,1592,"Nonsynonymous","N/A","N/A","FCGR2A","c.818T>C","NM_021642.3","CDS7","p.L273P","Exon","rs382627",22.12,"NA","NA",0.0003,0.0002,{"$nulls":4},"C",null,"CM127934","NM_021642.3:c.818T-C","missense/nonsense","FP","Increasedsignal transduction activity","T","B","B","P",-1.114,".","."]
["02160816100201_XZ",161488237,1,"A","AG",219,"67;67","0;2","37;46","0;0","0;0","0;0",0,0,0,0,430,"Unknown","N/A","N/A","FCGR2A","c.*299A>G","NM_021642.3",null,null,"Intron","rs1050399",37.9,{"$nulls":8},"G"]
["02160816100201_XZ",161488297,1,"C","CT",208,"1;0","53;74","0;0","33;45","2;0","2;0",0,0,0,0,214,"Unknown","N/A","N/A","FCGR2A","c.*359C>T","NM_021642.3",null,null,"Intron","rs387801",37.5,{"$nulls":8},"T"]
["02160816100201_XZ",161488409,1,"T","insT",65,"2;0","0;0","0;0","25;34","10;22","2;2",0,0,1,0,1183,"Unknown","N/A","N/A","FCGR2A","c.*482_*483insT","NM_021642.3",null,null,"Intron","rs11425075,rs373368691,rs386368497,rs547436496",49.23,{"$nulls":8},"insT"]
["02160816100201_XZ",161488421,1,"G","GT",49,"0;0","0;0","10;27","11;1","0;0","0;0",0,1,0,0,3,"Unknown","N/A","N/A","FCGR2A","c.*483G>T","NM_021642.3",null,null,"Intron",null,24.49,{"$nulls":8},"T"]
["02160816100201_XZ",161488587,1,"T","AA",8,"6;2","0;0","0;0","0;0","0;0","0;0",1,0,0,0,2146,"Unknown","N/A","N/A","FCGR2A","c.*649T>A","NM_021642.3",null,null,"Intron","rs1131184",100,{"$nulls":8},"A"]
["02160816100201_XZ",161488602,1,"A","AG",41,"23;2","0;0","16;0","0;0","0;0","0;0",0,1,0,0,1751,"Unknown","N/A","N/A","FCGR2A","c.*664A>G","NM_021642.3",null,null,"Intron","rs1674784",39.02,{"$nulls":8},"G"]
["02160816100201_XZ",162313597,1,"T","CC",132,"0;0","84;48","0;0","0;0","0;0","0;0",0,0,0,0,7082,"Unknown","N/A","N/A","NOS1AP","c.454-28T>C","NM_014697.2",null,null,"Intron","rs347278",100,{"$nulls":4},0.9259,1,"T",0.07408,"C",0.9259]
["02160816100201_XZ",162313735,1,"C","CT",163,"1;0","30;41","1;0","39;51","0;0","0;0",0,0,0,0,5902,"Synonymous","N/A","N/A","NOS1AP","c.564C>T","NM_014697.2","CDS6","p.S188S","Exon","rs3751284",55.21,{"$nulls":4},0.4309,0.6339,"T",0.4309,"T",0.4309]
["02160816100201_XZ",162333990,1,"A","AG",347,"103;74","1;1","95;72","0;1","0;0","0;0",0,0,0,0,660,"Unknown","N/A","N/A","NOS1AP","c.940-1204A>G","NM_014697.2",null,null,"Intron","rs1963645",48.13,{"$nulls":6},"G",0.3037,"G",0.3037]
["02160816100201_XZ",162334100,1,"T","CC",475,"1;0","230;241","0;0","3;0","2;0","0;0",0,0,0,0,1684,"Unknown","N/A","N/A","NOS1AP","c.940-1094T>C","NM_014697.2",null,null,"Intron","rs905720",99.16,{"$nulls":6},"T",0.3844,"C",0.6156]
["02160816100201_XZ",162335052,1,"C","CT",300,"1;1","77;64","0;0","73;84","0;0","0;0",0,0,0,0,5387,"Unknown","N/A","N/A","NOS1AP","c.940-142C>T","NM_014697.2",null,null,"Intron","rs905721",52.33,{"$nulls":6},"T",0.3155,"T",0.3155]
["02160816100201_XZ",162338229,1,"A","delAAAAA",159,"5;14","0;0","0;0","0;0","0;0","59;81",0,0,0,0,865,"Unknown","N/A","N/A","NOS1AP","c.*980_*984delAAAAA","NM_014697.2",null,null,"Intron","rs796319627",88.05,{"$nulls":8},"delAAAAA"]
["02160816100201_XZ",162338230,1,"A","-",156,"4;11","0;0","1;0","0;0","0;0","59;81",0,0,0,0,1071,"Unknown","N/A","N/A","NOS1AP","-","NM_014697.2",null,null,"Intron","rs199619064,rs200568394,rs374163597,rs535741655,rs760174914,rs904985431",89.74,{"$nulls":8},"-"]
["02160816100201_XZ",162338231,1,"A","-",151,"3;8","0;0","0;0","0;0","0;0","59;81",0,0,0,0,918,"Unknown","N/A","N/A","NOS1AP","-","NM_014697.2",null,null,"Intron","rs199619064,rs200568394,rs760174914,rs904985431",92.72,{"$nulls":8},"-"]
["02160816100201_XZ",162338232,1,"A","-",149,"2;7","0;0","0;0","0;0","0;0","59;81",0,0,0,0,914,"Unknown","N/A","N/A","NOS1AP","-","NM_014697.2",null,null,"Intron",null,93.96,{"$nulls":8},"-"]
["02160816100201_XZ",162338233,1,"A","-",146,"2;12","0;0","0;0","0;0","0;0","59;73",0,0,0,0,894,"Unknown","N/A","N/A","NOS1AP","-","NM_014697.2",null,null,"Intron","rs200568394,rs904985431",90.41,{"$nulls":8},"-"]
["02160816100201_XZ",162338377,1,"C","GG",214,"3;0","1;1","106;103","0;0","0;0","0;0",0,0,0,0,1231,"Unknown","N/A","N/A","NOS1AP","c.*1120C>G","NM_014697.2",null,null,"Intron","rs164146",97.66,{"$nulls":6},"C",0.2788,"G",0.7212]
["02160816100201_XZ",162338397,1,"A","CC",202,"1;2","99;95","3;0","1;1","0;0","0;0",0,0,0,0,1205,"Unknown","N/A","N/A","NOS1AP","c.*1140A>C","NM_014697.2",null,null,"Intron","rs164147",96.04,{"$nulls":6},"A",0.2788,"C",0.7212]
["02160816100201_XZ",162338485,1,"A","GG",171,"0;0","0;0","84;86","0;0","0;0","1;0",0,0,0,0,1142,"Unknown","N/A","N/A","NOS1AP","c.*1228A>G","NM_014697.2",null,null,"Intron","rs164148",99.42,{"$nulls":6},"A",0.279,"G",0.721]
["02160816100201_XZ",162338496,1,"G","AA",182,"91;88","0;0","1;1","0;1","0;0","0;0",0,0,0,0,837,"Unknown","N/A","N/A","NOS1AP","c.*1239G>A","NM_014697.2",null,null,"Intron","rs1876986",98.35,{"$nulls":6},"A",0.2957,"A",0.2957]
["02160816100201_XZ",162338853,1,"G","AA",143,"68;75","0;0","0;0","0;0","0;0","0;0",0,0,0,0,1575,"Unknown","N/A","N/A","NOS1AP","c.*1596G>A","NM_014697.2",null,null,"Intron","rs737641",100,{"$nulls":6},"A",0.2957,"A",0.2957]
["02160816100201_XZ",162338962,1,"C","TT",120,"0;0","0;0","0;0","51;69","0;0","0;0",0,0,0,0,1718,"Unknown","N/A","N/A","NOS1AP","c.*1705C>T","NM_014697.2",null,null,"Intron","rs164151",100,{"$nulls":6},"C",0.2859,"T",0.7141]
["02160816100201_XZ",162339262,1,"A","insA",270,"134;135","0;0","0;0","1;0","117;130","0;0",0,0,0,0,1203,"Unknown","N/A","N/A","NOS1AP","c.*2005_*2006insA","NM_014697.2",null,null,"Intron","rs61332953,rs67341046",91.48,{"$nulls":8},"insA"]
["02160816100201_XZ",162339579,1,"T","CC",536,"0;0","303;228","1;0","0;0","0;0","3;1",0,0,0,0,2159,"Unknown","N/A","N/A","NOS1AP","c.*2322T>C","NM_014697.2",null,null,"Intron","rs164588",99.07,{"$nulls":6},"T",2.196E-3,"C",0.9978]
["02160816100201_XZ",165693539,1,"T","CT",54,"0;0","17;14","0;0","16;7","0;0","0;0",0,1,0,0,4511,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*3721A>G","NM_019026.4",null,null,"Intron","rs3186873",57.41,{"$nulls":8},"G"]
["02160816100201_XZ",165693863,1,"G","GT",117,"0;0","0;0","28;30","30;29","0;0","0;0",0,1,0,0,3520,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*3397C>A","NM_019026.4",null,null,"Intron","rs14223",50.43,{"$nulls":8},"A"]
["02160816100201_XZ",165694259,1,"C","AA",5,"0;3","1;0","0;0","0;0","0;0","1;0",1,1,0,1,1251,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*3001G>T","NM_019026.4",null,null,"Intron","rs71583908,rs75829564",60,{"$nulls":8},"T"]
["02160816100201_XZ",165694261,1,"C","AA",4,"0;3","0;0","0;0","0;0","0;0","1;0",1,1,0,1,1377,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*2999G>T","NM_019026.4",null,null,"Intron","rs12037952",75,{"$nulls":8},"T"]
["02160816100201_XZ",165694367,1,"A","AC",14,"7;4","0;3","0;0","0;0","0;0","0;0",0,1,0,1,5,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*2893T>G","NM_019026.4",null,null,"Intron",null,21.43,{"$nulls":8},"G"]
["02160816100201_XZ",165694372,1,"T","insG",14,"0;0","0;0","0;0","7;7","0;3","0;0",0,1,0,1,5,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*2888_*2889insC","NM_019026.4",null,null,"Intron",null,21.43,{"$nulls":8},"insC"]
["02160816100201_XZ",165694374,1,"A","AT",14,"7;4","0;0","0;0","0;3","0;0","0;0",0,1,0,1,7,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*2886T>A","NM_019026.4",null,null,"Intron",null,21.43,{"$nulls":8},"A"]
["02160816100201_XZ",165694375,1,"C","CG",14,"0;0","7;4","0;3","0;0","0;0","0;0",0,1,0,1,6,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*2885G>C","NM_019026.4",null,null,"Intron",null,21.43,{"$nulls":8},"C"]
["02160816100201_XZ",165694376,1,"T","CT",14,"0;0","0;3","0;0","7;4","0;0","0;0",0,1,0,1,6,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*2884A>G","NM_019026.4",null,null,"Intron",null,21.43,{"$nulls":8},"G"]
["02160816100201_XZ",165694378,1,"A","AC",14,"7;4","0;3","0;0","0;0","0;0","0;0",0,1,0,1,5,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*2882T>G","NM_019026.4",null,null,"Intron",null,21.43,{"$nulls":8},"G"]
["02160816100201_XZ",165694897,1,"T","CC",76,"0;0","32;43","0;0","1;0","0;0","0;0",0,1,0,0,5741,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*2363A>G","NM_019026.4",null,null,"Intron","rs7524755",98.68,{"$nulls":8},"G"]
["02160816100201_XZ",165694918,1,"G","CG",62,"0;0","11;19","14;18","0;0","0;0","0;0",0,0,0,0,3455,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*2342C>G","NM_019026.4",null,null,"Intron","rs6426937",48.39,{"$nulls":8},"G"]
["02160816100201_XZ",165695726,1,"T","CT",206,"0;0","47;52","0;0","55;52","0;0","0;0",0,1,0,0,3426,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*1534A>G","NM_019026.4",null,null,"Intron","rs1913846",48.06,{"$nulls":8},"G"]
["02160816100201_XZ",165695855,1,"C","TT",99,"0;0","0;0","0;0","42;57","0;0","0;0",0,1,0,0,5749,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.*1405G>A","NM_019026.4",null,null,"Intron","rs6660601",100,{"$nulls":8},"A"]
["02160816100201_XZ",165737704,1,"C","GG",310,"0;0","0;0","195;112","1;2","0;0","0;0",0,1,0,0,8179,"Unknown","AR","CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMA... (OMIM:213980)","TMCO1","c.224-198G>C","NM_019026.4",null,null,"Intron","rs2790053",99.03,{"$nulls":8},"C"]
["02160816100201_XZ",169094100,1,"T","AA",155,"82;71","0;2","0;0","0;0","0;0","0;0",0,0,0,0,6663,"Unknown","N/A","N/A","ATP1B1","c.227-22T>A","NM_001677.3",null,null,"Intron","rs968304",98.71,{"$nulls":4},0.6579,0.8135,"T",0.3421,"A",0.6579]
["02160816100201_XZ",169101060,1,"G","AA",129,"69;59","0;0","1;0","0;0","0;0","0;0",0,0,0,0,1352,"Unknown","N/A","N/A","ATP1B1","c.*267G>A","NM_001677.3",null,null,"Intron","rs12079745",99.22,{"$nulls":6},"A",0.2516,"A",0.2516]
["02160816100201_XZ",169101258,1,"T","insTT",24,"0;0","0;0","0;0","8;16","4;5","0;0",0,0,0,0,356,"Unknown","N/A","N/A","ATP1B1","c.*486_*487insTT","NM_001677.3",null,null,"Intron","rs34447553,rs56167655",37.5,{"$nulls":8},"insTT"]
["02160816100201_XZ",169101280,1,"G","GT",18,"0;0","0;0","2;9","7;0","0;0","0;0",0,1,0,0,1040,"Unknown","N/A","N/A","ATP1B1","c.*487G>T","NM_001677.3",null,null,"Intron","rs184990529",38.89,{"$nulls":8},"T"]
["02160816100201_XZ",169101291,1,"C","CT",17,"0;0","3;9","0;0","5;0","0;0","0;0",0,1,0,0,8,"Unknown","N/A","N/A","ATP1B1","c.*498C>T","NM_001677.3",null,null,"Intron",null,29.41,{"$nulls":8},"T"]
["02160816100201_XZ",169101935,1,"C","TT",145,"0;0","2;2","2;0","71;68","0;0","0;0",0,0,0,0,1038,"Unknown","N/A","N/A","ATP1B1","c.*1142C>T","NM_001677.3",null,null,"Intron","rs1138486",95.86,{"$nulls":6},"T",0.2688,"T",0.2688]
["02160816100201_XZ",169435027,1,"C","TT",84,"2;0","0;0","0;0","51;31","0;0","0;0",0,1,0,0,8208,"Unknown","AR","THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA... (OMIM:249270)","SLC19A2","c.*60G>A","NM_006996.2",null,null,"Intron","rs2678166",97.62,{"$nulls":8},"A"]
["02160816100201_XZ",169437392,1,"A","AG",208,"36;50","0;0","51;70","1;0","0;0","0;0",0,1,0,0,795,"Nonsynonymous","AR","THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA... (OMIM:249270)","SLC19A2","c.1322T>C","NM_006996.2","CDS5","p.I441T","Exon","rs17847484",58.17,0.016,0.0612,0.0046,0.0622,{"$nulls":4},"C",null,"CM142096","NM_006996.2:c.1322T-C","missense/nonsense","DM?","Megaloblasticanaemia, thiamine responsive, without diabetes","D","D,P","P","D",0.533,".","."]
["02160816100201_XZ",169481176,1,"A","TT",7,"0;1","0;0","0;0","2;4","0;0","0;0",1,0,0,0,921,"Unknown",null,"N/A","N/A","c.*2359+16A>T",{"$nulls":3},"Intron","rs6427195",85.71,{"$nulls":6},"A",0.08746,"T",0.9125]
["02160816100201_XZ",169481223,1,"C","GG",19,"0;0","0;0","15;4","0;0","0;0","0;0",0,1,0,0,921,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.*2328G>C","NM_000130.4",null,null,"Intron","rs6427196",100,{"$nulls":8},"C"]
["02160816100201_XZ",169482115,1,"A","TT",203,"1;2","0;0","0;0","65;135","0;0","0;0",0,1,0,0,801,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.*1436T>A","NM_000130.4",null,null,"Intron","rs9332678",98.52,{"$nulls":8},"A"]
["02160816100201_XZ",169482260,1,"A","AG",12,"1;8","0;0","3;0","0;0","0;0","0;0",0,1,0,1,1,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.*1291T>C","NM_000130.4",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",169482262,1,"C","AC",11,"3;0","1;7","0;0","0;0","0;0","0;0",0,1,0,1,0,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.*1289G>T","NM_000130.4",null,null,"Intron",null,27.27,{"$nulls":8},"T"]
["02160816100201_XZ",169482263,1,"C","CG",9,"0;0","2;5","2;0","0;0","0;0","0;0",1,1,0,1,1,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.*1288G>C","NM_000130.4",null,null,"Intron",null,22.22,{"$nulls":8},"C"]
["02160816100201_XZ",169482266,1,"T","CT",8,"0;0","2;0","0;0","2;4","0;0","0;0",1,1,0,1,1,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.*1285A>G","NM_000130.4",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",169482268,1,"G","CG",7,"0;0","2;0","1;4","0;0","0;0","0;0",1,1,0,1,1,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.*1283C>G","NM_000130.4",null,null,"Intron",null,28.57,{"$nulls":8},"G"]
["02160816100201_XZ",169482436,1,"G","AA",9,"6;2","0;0","0;0","0;0","0;0","0;1",1,1,0,0,834,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.*1115C>T","NM_000130.4",null,null,"Intron","rs2040444",88.89,{"$nulls":8},"T"]
["02160816100201_XZ",169489946,1,"A","GG",20,"0;0","0;0","4;16","0;0","0;0","0;0",0,1,0,0,6071,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.6049-44T>C","NM_000130.4",null,null,"Intron","rs9332658",100,{"$nulls":8},"C"]
["02160816100201_XZ",169494196,1,"C","TT",18,"0;0","0;0","0;0","6;12","0;0","0;0",0,1,0,0,6598,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.5717-50G>A","NM_000130.4",null,null,"Intron","rs2301515",100,{"$nulls":8},"A"]
["02160816100201_XZ",169498834,1,"T","CC",58,"0;0","31;27","0;0","0;0","0;0","0;0",0,1,0,1,7056,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.5419+12A>G","NM_000130.4",null,null,"Intron","rs6009",100,{"$nulls":8},"G"]
["02160816100201_XZ",169498835,1,"G","AA",58,"31;27","0;0","0;0","0;0","0;0","0;0",0,1,0,1,6096,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.5419+11C>T","NM_000130.4",null,null,"Intron","rs6008",100,{"$nulls":8},"T"]
["02160816100201_XZ",169510139,1,"G","AA",535,"245;277","0;0","4;9","0;0","0;0","0;0",0,1,0,0,6192,"Nonsynonymous","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.4189C>T","NM_000130.4","CDS13","p.L1397F","Exon","rs13306334",97.57,0.19,0.6451,0.0898,0.6406,{"$nulls":4},"T",{"$nulls":6},"T","B","B","P",-0.314,".","."]
["02160816100201_XZ",169519049,1,"T","CC",153,"0;1","90;62","0;0","0;0","0;0","0;0",0,1,0,0,7433,"Nonsynonymous","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.1601A>G","NM_000130.4","CDS10","p.Q534R","Exon","rs6025",99.35,0.994,1,0.9785,1,{"$nulls":4},"G",null,"CM940389","c.1601G>A","missense/nonsense","DFP","Thrombosis,increased risk","T",".",".","P",-0.119,-5,"Thrombophilia_due_to_factor_V_Leiden"]
["02160816100201_XZ",169519112,1,"C","TT",218,"0;0","0;2","0;0","110;106","0;0","0;0",0,1,0,0,6206,"Nonsynonymous","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.1538G>A","NM_000130.4","CDS10","p.R513K","Exon","rs6020",99.08,0.2642,0.6713,0.112,0.6486,{"$nulls":4},"A",null,"CM980660","c.1538G>A","missense/nonsense","DP","Thrombosis,increased risk, association with","T","P","B","P",0.655,".","."]
["02160816100201_XZ",169528580,1,"C","CT",128,"0;0","22;50","0;0","18;38","0;0","0;0",0,1,0,0,6235,"Unknown","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.587-46G>A","NM_000130.4",null,null,"Intron","rs6012",43.75,{"$nulls":8},"A"]
["02160816100201_XZ",169529826,1,"C","AC",176,"57;47","46;26","0;0","0;0","0;0","0;0",0,1,0,0,6323,"Synonymous","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.552G>T","NM_000130.4","CDS4","p.S184S","Exon","rs6022",59.09,{"$nulls":8},"T"]
["02160816100201_XZ",169529973,1,"C","CT",223,"0;0","48;57","0;0","52;66","0;0","0;0",0,1,0,0,6300,"Synonymous","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.405G>A","NM_000130.4","CDS4","p.A135A","Exon","rs6029",52.91,{"$nulls":8},"A"]
["02160816100201_XZ",169551682,1,"T","CT",8,"0;0","2;2","0;0","2;2","0;0","0;0",1,1,0,0,2873,"Synonymous","1.AR/2.AD/3.AR/4.AD/5.多因素/6.AD","THROMBOPHILIA DUE TO DEFICIENCY OF ACTIV... (OMIM:188055), FACTOR V DEFICIENCY (OMIM:227400)","F5","c.237A>G","NM_000130.4","CDS2","p.Q79Q","Exon","rs6028",50,{"$nulls":8},"G"]
["02160816100201_XZ",169555773,1,"C","CT",184,"1;0","28;54","0;0","39;62","0;0","0;0",0,0,0,0,38,"Unknown",null,"N/A","N/A","c.-145-4C>T",{"$nulls":3},"Intron","rs182080656",54.89,{"$nulls":6},"T",0.001398,"T",0.001398]
["02160816100201_XZ",169562904,1,"C","CT",136,"0;0","25;34","0;0","38;39","0;0","0;0",0,1,0,0,6059,"Synonymous","NA","N/A","SELP","c.2346G>A","NM_003005.3","CDS14","p.T782T","Exon","rs6128",56.62,0.3828,0.6416,0.2393,0.6652,{"$nulls":4},"A",{"$nulls":6},".",".",".","P",-1.111,".","."]
["02160816100201_XZ",169566313,1,"C","TT",191,"0;0","0;0","1;0","101;89","0;0","0;0",0,1,0,0,7025,"Nonsynonymous","NA","N/A","SELP","c.1807G>A","NM_003005.3","CDS11","p.D603N","Exon","rs6127",99.48,0.7518,0.9528,0.6385,0.9721,{"$nulls":4},"A",null,"CM093649","NM_003005.3:c.1807A-G","missense/nonsense","FP","Higherplatelet SELP measures","T","B","B","P",-0.269,".","."]
["02160816100201_XZ",169673838,1,"G","AA",198,"93;103","0;0","1;1","0;0","0;0","0;0",0,1,0,0,3466,"Nonsynonymous","N/A","N/A","SELL","c.676C>T","NM_000655.4","CDS5","p.P226S","Exon","rs2229569",98.99,0.2395,0.285,0.1246,0.2611,{"$nulls":4},"T",null,"CM078118","NM_000655.4:c.676C-T","missense/nonsense","DFP","ImmunoglobulinA nephropathy, association with","T","D","D","P",0.655,".","."]
["02160816100201_XZ",169677709,1,"A","GG",253,"1;0","0;0","111;140","0;1","0;0","0;0",0,1,0,0,3629,"Synonymous","N/A","N/A","SELL","c.360T>C","NM_000655.4","CDS3","p.L120L","Exon","rs1051091",99.21,{"$nulls":8},"C"]
["02160816100201_XZ",169678024,1,"T","CC",107,"0;0","36;70","1;0","0;0","0;0","0;0",0,1,0,0,4078,"Unknown","N/A","N/A","SELL","c.125-80A>G","NM_000655.4",null,null,"Intron","rs4987285",99.07,{"$nulls":8},"G"]
["02160816100201_XZ",169692132,1,"T","CC",173,"0;0","80;93","0;0","0;0","0;0","0;0",0,1,0,0,684,"Unknown","NA","N/A","SELE","c.*1534A>G","NM_000450.2",null,null,"Intron","rs4786",100,{"$nulls":8},"G"]
["02160816100201_XZ",169692522,1,"T","CC",51,"0;0","25;26","0;0","0;0","0;0","0;0",0,1,0,0,398,"Unknown","NA","N/A","SELE","c.*1144A>G","NM_000450.2",null,null,"Intron","rs5359",100,{"$nulls":8},"G"]
["02160816100201_XZ",169694918,1,"A","GG",185,"2;0","0;0","94;88","1;0","0;0","0;0",0,1,0,0,2989,"Synonymous","NA","N/A","SELE","c.1800T>C","NM_000450.2","CDS12","p.D600D","Exon","rs5356",98.38,{"$nulls":8},"C"]
["02160816100201_XZ",169695110,1,"T","AA",52,"19;32","0;0","0;0","0;1","0;0","0;0",0,1,0,0,2817,"Unknown","NA","N/A","SELE","c.1754-41A>T","NM_000450.2",null,null,"Intron","rs3917432",98.08,{"$nulls":8},"T"]
["02160816100201_XZ",169695845,1,"C","CT",179,"0;0","74;42","0;0","36;27","0;0","0;0",0,1,0,0,2,"Nonsynonymous","NA","N/A","SELE","c.1748G>A","NM_000450.2","CDS10","p.R583Q","Exon","rs755230390",35.2,"NA","NA",0,0,{"$nulls":4},"A",{"$nulls":6},"D,T","P","B","D",0.65,".","."]
["02160816100201_XZ",169695984,1,"G","AA",197,"80;114","0;0","1;0","0;0","0;0","2;0",0,1,0,0,3045,"Unknown","NA","N/A","SELE","c.1646-37C>T","NM_000450.2",null,null,"Intron","rs3917428",98.48,{"$nulls":8},"T"]
["02160816100201_XZ",169696946,1,"G","AA",244,"126;117","0;0","1;0","0;0","0;0","0;0",0,1,0,0,3096,"Nonsynonymous","NA","N/A","SELE","c.1402C>T","NM_000450.2","CDS8","p.H468Y","Exon","rs5368",99.59,0.1616,0.243,0.1392,0.2043,{"$nulls":4},"T",null,"CM025889","NM_000450.2:c.1402C-T","missense/nonsense","DP","ImmunoglobulinA nephropathy, association with","D,T","P","P","P",0.65,".","."]
["02160816100201_XZ",169698825,1,"T","GG",235,"0;0","0;0","86;149","0;0","0;0","0;0",0,1,0,0,6315,"Unknown","NA","N/A","SELE","c.716-11A>C","NM_000450.2",null,null,"Intron","rs1534904",100,{"$nulls":8},"C"]
["02160816100201_XZ",169702705,1,"G","AA",100,"57;43","0;0","0;0","0;0","0;0","0;0",0,1,0,0,5214,"Unknown","NA","N/A","SELE","c.37+12C>T","NM_000450.2",null,null,"Intron","rs932307",100,{"$nulls":8},"T"]
["02160816100201_XZ",170705618,1,"A","CC",75,"5;0","26;44","0;0","0;0","0;0","0;0",0,0,0,0,2800,"Unknown","AR/AD","AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)","PRRX1","c.*291A>C","NM_022716.2",null,null,"Intron","rs6666030",93.33,{"$nulls":6},"A",0,"C",1]
["02160816100201_XZ",170705686,1,"T","delTATATAT",24,"0;0","0;0","0;0","2;4","0;0","8;10",0,0,0,0,2,"Unknown","AR/AD","AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)","PRRX1","c.*359_*365delTATATAT","NM_022716.2",null,null,"Intron","rs112340262,rs142852183,rs529083635,rs61148079,rs67734884,rs746449674",75,{"$nulls":8},"delTATATAT"]
["02160816100201_XZ",170705687,1,"A","-",22,"2;2","0;0","0;0","0;0","0;0","8;10",0,0,0,0,1856,"Unknown","AR/AD","AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)","PRRX1","-","NM_022716.2",null,null,"Intron",null,81.82,{"$nulls":8},"-"]
["02160816100201_XZ",170705688,1,"T","-",22,"0;0","0;0","0;0","4;3","0;0","6;9",0,0,0,0,1799,"Unknown","AR/AD","AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)","PRRX1","-","NM_022716.2",null,null,"Intron","rs112340262,rs142852183,rs61148079,rs67734884,rs746449674",68.18,{"$nulls":8},"-"]
["02160816100201_XZ",170705689,1,"A","-",22,"4;3","0;0","0;0","0;0","0;0","6;9",0,0,0,0,1800,"Unknown","AR/AD","AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)","PRRX1","-","NM_022716.2",null,null,"Intron",null,68.18,{"$nulls":8},"-"]
["02160816100201_XZ",170705690,1,"T","-",22,"0;0","0;0","0;0","5;3","0;0","5;9",0,0,0,0,1699,"Unknown","AR/AD","AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)","PRRX1","-","NM_022716.2",null,null,"Intron",null,63.64,{"$nulls":8},"-"]
["02160816100201_XZ",170705691,1,"A","-",22,"5;3","0;0","0;0","0;0","0;0","5;9",0,0,0,0,1698,"Unknown","AR/AD","AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)","PRRX1","-","NM_022716.2",null,null,"Intron",null,63.64,{"$nulls":8},"-"]
["02160816100201_XZ",170705692,1,"T","-",21,"0;0","0;0","0;0","7;9","0;0","3;2",0,0,0,0,1423,"Unknown","AR/AD","AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)","PRRX1","-","NM_022716.2",null,null,"Intron","rs142852183,rs67734884",23.81,{"$nulls":8},"-"]
["02160816100201_XZ",173155505,1,"T","GT",56,"0;0","0;0","0;13","38;5","0;0","0;0",0,1,0,1,651,"Unknown","N/A","N/A","TNFSF4","c.*150A>C","NM_003326.3",null,null,"Intron",null,23.21,{"$nulls":8},"C"]
["02160816100201_XZ",173516871,1,"G","CC",90,"0;0","38;51","1;0","0;0","0;0","0;0",0,1,0,0,2566,"Nonsynonymous",null,"N/A","SLC9C2","c.1514C>G","NM_178527.3","CDS12","p.A505G","Exon","rs16846206",98.89,0.3205,0.6206,0.277,0.6492,{"$nulls":4},"G",{"$nulls":6},"D","B","B","P",-0.44,".","."]
["02160816100201_XZ",175116252,1,"C","CG",267,"0;0","84;70","58;52","1;0","0;0","0;2",0,0,0,0,2833,"Unknown",null,"N/A","TNN","c.*45C>G","NM_022093.1",null,null,"Intron","rs4651335",41.2,{"$nulls":4},0.851,0.7331,"C",0.149,"G",0.851]
["02160816100201_XZ",181768186,1,"T","CC",443,"1;0","230;205","1;0","2;4","0;0","0;0",0,0,0,0,1436,"Unknown","N/A","N/A","CACNA1E","c.*216T>C","NM_000721.3",null,null,"Intron","rs2280869",98.19,{"$nulls":6},"C",0.1388,"C",0.1388]
["02160816100201_XZ",182349949,1,"A","AG",214,"56;43","0;0","67;48","0;0","0;0","0;0",0,0,0,0,1405,"Unknown",null,"N/A","N/A","c.*2701+890A>G",{"$nulls":3},"Intron","rs6691339",53.74,{"$nulls":6},"A",0.3251,"G",0.6749]
["02160816100201_XZ",186641218,1,"C","AC",24,"8;2","8;6","0;0","0;0","0;0","0;0",0,1,0,0,52,"Unknown","N/A","N/A","PTGS2","c.*2267G>T","NM_000963.2",null,null,"Intron","rs4648302",41.67,{"$nulls":8},"T"]
["02160816100201_XZ",192780089,1,"C","delCT",60,"0;0","15;12","0;0","0;0","0;0","16;17",0,0,0,0,4564,"Unknown",null,"N/A","RGS2","c.275-18_275-17delCT","NM_002923.3",null,null,"Intron","rs34717272,rs573552607,rs5779653,rs866634870",55,{"$nulls":8},"delCT"]
["02160816100201_XZ",193223767,1,"A","AC",14,"5;5","4;0","0;0","0;0","0;0","0;0",0,1,0,1,1,"Unknown","N/A","HYPERPARATHYROIDISM 2 (OMIM:145001), HYPERPARATHYROIDISM 1 (OMIM:145000), PARATHYROID CARCINOMA (OMIM:608266)","CDC73","c.*3925A>C","NM_024529.4",null,null,"Intron",null,28.57,{"$nulls":8},"C"]
["02160816100201_XZ",196654324,1,"A","CC",111,"0;0","55;54","1;0","1;0","0;0","0;0",0,0,0,0,7789,"Synonymous",null,"BASAL LAMINAR DRUSEN (OMIM:126700), COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)","CFH","c.921A>C","NM_000186.3","CDS7","p.A307A","Exon","rs1061147",98.2,{"$nulls":4},0.7131,0.9504,"A",0.2869,"C",0.7131,"CM057396","NM_000186.3:c.921C-A","missense/nonsense","DP","Maculardegeneration, age-related, association with"]
["02160816100201_XZ",196712586,1,"C","CT",118,"0;0","64;25","1;0","20;8","0;0","0;0",0,0,0,0,1963,"Synonymous",null,"BASAL LAMINAR DRUSEN (OMIM:126700), COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)","CFH","c.3138C>T","NM_000186.3","CDS20","p.T1046T","Exon","rs61822181",23.73,{"$nulls":8},"T"]
["02160816100201_XZ",197396761,1,"G","AG",115,"26;35","0;0","19;34","0;1","0;0","0;0",0,0,0,0,896,"Nonsynonymous",null,"LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835), PIGMENTED PARAVENOUS CHORIORETINAL ATROP... (OMIM:172870), RETINITIS PIGMENTOSA 12 (OMIM:600105)","CRB1","c.2306G>A","NM_201253.2","CDS7","p.R769H","Exon","rs62636287",53.04,0.0128,0.0472,0.0045,0.0509,0.0082,0.0377,"A",0.008187,"A",0.008187,{"$nulls":5},"T","B","B","N",-0.295,".","."]
["02160816100201_XZ",201286771,1,"C","CT",194,"2;0","72;53","0;0","40;27","0;0","0;0",0,0,0,0,3154,"Synonymous","AR","ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYND... (OMIM:604536)","PKP1","c.918C>T","NM_001005337.2","CDS5","p.A306A","Exon","rs1722779",34.54,{"$nulls":4},0.1685,0.2302,"T",0.1685,"T",0.1685]
["02160816100201_XZ",201336984,1,"C","CT",174,"0;0","32;60","0;1","24;56","0;0","0;1",0,1,0,0,2813,"Unknown","AD","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 (OMIM:115195), CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (OMIM:612422), CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)","TNNT2","c.134-50G>A","NM_001001430.2",null,null,"Intron","rs3729843",45.98,{"$nulls":8},"A"]
["02160816100201_XZ",202703053,1,"G","AA",202,"82;119","0;0","1;0","0;0","0;0","0;0",0,1,0,0,2956,"Unknown",null,"N/A","KDM5B","c.3424-39C>T","NM_006618.3",null,null,"Intron","rs4310498",99.5,{"$nulls":8},"T"]
["02160816100201_XZ",203652040,1,"T","CC",495,"0;0","236;258","0;1","0;0","0;0","0;0",0,0,0,0,2776,"Unknown",null,"N/A","ATP2B4","c.-294T>C","NM_001001396.2",null,null,"Intron","rs1541253",99.8,{"$nulls":6},"T",0.1502,"C",0.8498]
["02160816100201_XZ",204131186,1,"T","GT",503,"0;0","1;1","126;119","125;131","0;0","0;0",0,1,0,0,1399,"Synonymous",null,"HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVE... (OMIM:613092), RENIN (OMIM:179820), RENAL TUBULAR DYSGENESIS (OMIM:267430)","REN","c.204A>C","NM_000537.3","CDS2","p.T68T","Exon","rs5705",48.71,{"$nulls":8},"C"]
["02160816100201_XZ",208417652,1,"C","-",84,"0;0","6;26","0;0","0;0","0;0","11;41",0,0,0,0,578,"Unknown",null,"N/A","PLXNA2","-","NM_025179.3",null,null,"Intron",null,61.9,{"$nulls":8},"-"]
["02160816100201_XZ",210851704,1,"T","GT",29,"2;0","0;0","2;4","11;10","0;0","0;0",0,1,0,0,0,"Unknown",null,"ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500), TEMPLE-BARAITSER SYNDROME (OMIM:611816)","KCNH1","c.*4919A>C","NM_172362.2",null,null,"Intron",null,20.69,{"$nulls":8},"C"]
["02160816100201_XZ",214527286,1,"T","CT",154,"0;0","35;41","0;0","42;35","0;0","0;1",0,1,0,0,485,"Unknown","N/A","CHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)","PTPN14","c.*3979A>G","NM_005401.4",null,null,"Intron","rs59134396",49.35,{"$nulls":8},"G"]
["02160816100201_XZ",215408899,1,"T","insT",139,"0;0","0;0","0;0","61;74","17;27","2;2",0,0,0,0,347,"Unknown",null,"N/A","KCNK2","c.*420_*421insT","NM_001017425.2",null,null,"Intron","rs3838998,rs397781501,rs546184825",31.65,{"$nulls":8},"insT"]
["02160816100201_XZ",215796197,1,"T","insTTATT",24,"0;0","0;0","0;0","16;8","12;6","0;0",0,0,0,1,1340,"Unknown",null,"N/A","N/A","c.*1189+1054_*1189+1055insATTTT",{"$nulls":3},"Intron",null,75,{"$nulls":8},"insATTTT"]
["02160816100201_XZ",215963608,1,"C","CT",67,"0;0","17;19","0;0","11;20","0;0","0;0",0,1,0,0,127,"Synonymous","1.NA/2.AR","USHER SYNDROME, TYPE IIA (OMIM:276901), RETINITIS PIGMENTOSA 39 (OMIM:613809)","USH2A","c.9975G>A","NM_206933.2","CDS50","p.G3325G","Exon","rs188093326",46.27,{"$nulls":8},"A"]
["02160816100201_XZ",218610663,1,"T","delT",85,"1;0","1;0","0;0","22;15","0;2","28;18",0,0,0,0,4209,"Unknown",null,"LOEYS-DIETZ SYNDROME, TYPE 4 (OMIM:614816)","TGFB2","c.933-6delT","NM_003238.3",null,null,"Intron","rs1064793301,rs11285412,rs555940010,rs567623868,rs760989007,rs765726604,rs794727793,rs796591283,rs879050409",54.12,{"$nulls":8},"delT"]
["02160816100201_XZ",218617053,1,"T","-",20,"0;0","1;0","0;0","0;7","0;0","10;2",0,0,0,0,1389,"Unknown",null,"LOEYS-DIETZ SYNDROME, TYPE 4 (OMIM:614816)","TGFB2","-","NM_003238.3",null,null,"Intron","rs71852018,rs773405899,rs781581340,rs869143666,rs886045990,rs886045991",60,{"$nulls":8},"-"]
["02160816100201_XZ",222823744,1,"T","GT",14,"0;0","0;0","1;2","6;5","0;0","0;0",0,0,0,1,1,"Unknown","N/A","N/A","MIA3","c.3720+22T>G","NM_198551.2",null,null,"Intron","rs754024285",21.43,{"$nulls":8},"G"]
["02160816100201_XZ",224001904,1,"G","AG",108,"24;24","0;0","33;27","0;0","0;0","0;0",0,1,0,0,811,"Unknown",null,"N/A","TP53BP2","c.289+38C>T","NM_001031685.2",null,null,"Intron","rs3753048",44.44,{"$nulls":8},"T"]
["02160816100201_XZ",225611661,1,"C","CT",216,"0;0","63;61","1;0","37;54","0;0","0;0",0,1,0,0,7496,"Synonymous",null,"REYNOLDS SYNDROME (OMIM:613471), PELGER-HUET ANOMALY (OMIM:169400), GREENBERG DYSPLASIA (OMIM:215140)","LBR","c.117G>A","NM_002296.3","CDS1","p.V39V","Exon","rs1056607",42.13,{"$nulls":8},"A"]
["02160816100201_XZ",228395794,1,"C","CG",57,"0;0","29;8","15;5","0;0","0;0","0;0",0,0,0,0,18,"Unknown","N/A","N/A","C1orf145","c.-74-37G>C","NR_073154.1",null,null,"Intron","rs77070149",35.09,{"$nulls":8},"C"]
["02160816100201_XZ",228444318,1,"T","GT",304,"0;0","0;1","84;72","93;54","0;0","0;0",0,0,0,0,4478,"Unknown","N/A","N/A","OBSCN","c.4310-34T>G","NM_052843.3",null,null,"Intron","rs7532144",51.32,{"$nulls":4},0.617,0.5992,"T",0.383,"G",0.617]
["02160816100201_XZ",228465346,1,"A","AG",245,"77;65","0;0","44;57","0;0","0;0","0;2",0,0,0,0,4457,"Unknown","N/A","N/A","OBSCN","c.6755-109A>G","NM_052843.3",null,null,"Intron","rs493945",41.22,{"$nulls":4},0.3301,0.378,"G",0.3301,"G",0.3301]
["02160816100201_XZ",228505727,1,"C","CT",401,"0;0","96;112","1;0","85;107","0;0","0;0",0,0,0,0,3849,"Nonsynonymous","N/A","N/A","OBSCN","c.13984C>T","NM_052843.3","CDS52","p.R4662C","Exon","rs3795800",47.88,0.1058,0.3322,0.0487,0.3413,0.0863,0.3165,"T",0.08626,"T",0.08626,{"$nulls":5},"D,T","B","B","P",0.479,".","."]
["02160816100201_XZ",228556403,1,"C","CT",324,"0;1","108;75","0;0","81;59","0;0","0;0",0,0,0,0,3663,"Unknown","N/A","N/A","OBSCN","c.*495+7452C>T","NM_052843.3",null,null,"Intron","rs35711644",43.21,{"$nulls":4},0.1256,0.3075,"T",0.1256,"T",0.1256]
["02160816100201_XZ",229569804,1,"G","AG",275,"52;101","0;1","46;74","0;1","0;0","0;0",0,1,0,1,2638,"Unknown",null,"MYOPATHY, CONGENITAL, WITH FIBER-TYPE DI... (OMIM:255310), NEMALINE MYOPATHY 3 (OMIM:161800)","ACTA1","c.-66C>T","NM_001100.3",null,null,"Intron","rs605428",55.64,{"$nulls":8},"T"]
["02160816100201_XZ",230417560,1,"A","GG",202,"0;0","0;0","103;99","0;0","0;0","0;0",0,0,0,1,1379,"Unknown",null,"N/A","GALNT2","c.*2356A>G","NM_004481.3",null,null,"Intron","rs1043944",100,{"$nulls":6},"A",0.1182,"G",0.8818]
["02160816100201_XZ",234509859,1,"T","delT",64,"0;0","0;0","0;1","11;14","0;0","22;16",0,0,0,1,851,"Unknown",null,"CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE... (OMIM:616501)","COA6","c.123-101delT","NM_001012985.2",null,null,"Intron","rs61077059,rs761990480,rs776374824,rs796212103",59.38,{"$nulls":8},"delT"]
["02160816100201_XZ",234744250,1,"G","AA",429,"217;201","0;1","3;5","0;0","0;0","2;0",0,1,0,0,1474,"Synonymous",null,"N/A","IRF2BP2","c.991C>T","NM_182972.2","CDS1","p.L331L","Exon","rs8722",97.44,{"$nulls":8},"T"]
["02160816100201_XZ",237670140,1,"A","GG",36,"0;0","0;0","13;23","0;0","0;0","0;0",0,0,0,0,7047,"Unknown",null,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLAS... (OMIM:600996), VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:604772)","RYR2","c.2718+26A>G","NM_001035.2",null,null,"Intron","rs2618702",100,{"$nulls":4},0.6995,0.7272,"A",0.3005,"G",0.6995]
["02160816100201_XZ",237675134,1,"G","AG",33,"0;7","0;0","12;14","0;0","0;0","0;0",0,1,0,0,2487,"Unknown",null,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLAS... (OMIM:600996), VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:604772)","RYR2","c.2822+43G>A","NM_001035.2",null,null,"Intron","rs924450121",21.21,{"$nulls":8},"A"]
["02160816100201_XZ",237955650,1,"T","delTGTG",144,"0;0","0;0","0;0","33;55","0;0","14;42",0,0,0,0,3252,"Unknown",null,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLAS... (OMIM:600996), VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:604772)","RYR2","c.13782+55_13782+58delTGTG","NM_001035.2",null,null,"Intron","rs141054929,rs529587905,rs570819253,rs59401608,rs749990949,rs750469644,rs759102815,rs760601642,rs764631432,rs780446556",38.89,{"$nulls":8},"delTGTG"]
["02160816100201_XZ",243664642,1,"A","AG",404,"115;81","0;0","108;100","0;0","0;0","0;0",0,1,0,0,684,"Unknown","NA","MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYL... (OMIM:615937)","AKT3","c.*3909T>C","NM_005465.4",null,null,"Intron","rs1058305",51.49,{"$nulls":8},"C"]
["02160816100201_XZ",246580718,1,"G","AG",113,"24;21","0;0","27;40","1;0","0;0","0;0",0,1,0,0,430,"Unknown","N/A","N/A","SMYD3","c.-130-4C>T","NM_022743.2",null,null,"Intron","rs6673291",39.82,{"$nulls":8},"T"]
["02160816100201_XZ",247836207,1,"T","AT",239,"64;64","0;0","4;0","52;55","0;0","0;0",0,0,0,0,4275,"Nonsynonymous","N/A","N/A","OR13G1","c.137A>T","NM_001005487.1","CDS1","p.K46I","Exon","rs28711149",53.56,0.3095,0.3234,0.3378,0.3862,{"$nulls":4},"T",{"$nulls":6},"T","B","B","P",-0.257,".","."]
["02160816100201_XZ",1497803,2,"C","CT",281,"0;1","64;88","0;0","49;79","0;0","0;0",0,0,0,0,4824,"Synonymous","AR","THYROID HORMONOGENESIS, GENETIC DEFECT I... (OMIM:274500)","TPO","c.1998C>T","NM_000547.5","CDS10","p.D666D","Exon","rs1126797",45.55,0.3768,0.4336,0.3627,0.409,null,null,"T",0.359,"T",0.359,{"$nulls":5},".",".",".","P",-0.995,".","."]
["02160816100201_XZ",11053020,2,"A","GG",271,"0;0","0;0","147;123","0;1","0;0","0;0",0,0,0,0,3064,"Synonymous",null,"N/A","KCNF1","c.468A>G","NM_002236.4","CDS1","p.A156A","Exon","rs3732104",99.63,{"$nulls":4},0.893,0.9653,"A",0.107,"G",0.893]
["02160816100201_XZ",21235475,2,"T","CC",120,"0;0","53;67","0;0","0;0","0;0","0;0",0,1,0,0,8347,"Nonsynonymous","1.AD/2.AR","HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558), HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT... (OMIM:144010)","APOB","c.4265A>G","NM_000384.2","CDS26","p.Y1422C","Exon","rs568413",100,1,1,0.9998,1,{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-0.119,".","."]
["02160816100201_XZ",25466888,2,"G","TT",336,"1;0","0;0","2;0","169;164","0;0","0;0",0,1,0,0,6502,"Unknown","AD","TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)","DNMT3A","c.1852-37C>A","NM_175629.2",null,null,"Intron","rs2289093",99.11,{"$nulls":8},"A"]
["02160816100201_XZ",26502821,2,"T","AT",11,"0;3","0;0","0;0","7;1","0;0","0;0",0,1,0,1,1,"Unknown","AR","TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)","HADHB","c.812-41T>A","NM_000183.2",null,null,"Intron",null,27.27,{"$nulls":8},"A"]
["02160816100201_XZ",26915693,2,"C","CT",8,"0;0","6;0","0;0","0;2","0;0","0;0",1,1,0,1,21,"Unknown",null,"PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)","KCNK3","c.-51C>T","NM_002246.2",null,null,"Intron",null,25,{"$nulls":8},"T"]
["02160816100201_XZ",27424496,2,"G","AA",285,"183;101","0;0","0;0","0;0","0;0","0;1",0,1,0,0,3593,"Unknown","N/A","N/A","SLC5A6","c.1544+38C>T","NM_021095.2",null,null,"Intron","rs1006898",99.65,{"$nulls":8},"T"]
["02160816100201_XZ",27730940,2,"T","CT",349,"1;0","59;105","1;0","71;112","0;0","0;0",0,0,0,0,5028,"Nonsynonymous","1.NA","N/A","GCKR","c.1337T>C","NM_001486.3","CDS15","p.L446P","Exon","rs1260326",46.99,0.6158,0.4406,0.6424,0.5061,0.7067,0.5188,"T",0.2933,"C",0.7067,"CM083701","NM_001486.3:c.1337C-T","missense/nonsense","DFP","Hyperglycaemia,reduced risk, association with",".,T",".,B",".,B","P",-0.726,".","."]
["02160816100201_XZ",29287229,2,"A","AG",167,"42;44","0;1","38;41","1;0","0;0","0;0",0,1,0,1,1973,"Unknown",null,"N/A","C2orf71","c.*506T>C","NM_001029883.2",null,null,"Intron","rs10194257",47.31,{"$nulls":8},"C"]
["02160816100201_XZ",31588288,2,"T","AT",207,"58;34","0;1","0;0","74;40","0;0","0;0",0,0,0,0,7257,"Unknown","AR","XANTHINURIA, TYPE I (OMIM:278300)","XDH","c.2544+35A>T","NM_000379.3",null,null,"Intron","rs2365842",44.44,{"$nulls":8},"T"]
["02160816100201_XZ",37068272,2,"C","AA",37,"18;19","0;0","0;0","0;0","0;0","0;0",0,1,0,0,664,"Unknown",null,"N/A","STRN","c.*8327G>T","NM_003162.3",null,null,"Intron","rs1015600",100,{"$nulls":6},"T",0.005791,"T",0.005791]
["02160816100201_XZ",37073809,2,"T","CC",34,"0;0","18;16","0;0","0;0","0;0","0;0",0,1,0,0,711,"Unknown",null,"N/A","STRN","c.*2790A>G","NM_003162.3",null,null,"Intron","rs2254704",100,{"$nulls":8},"G"]
["02160816100201_XZ",38297515,2,"G","TT",123,"0;0","0;0","0;0","58;65","0;0","0;0",0,1,0,0,1991,"Unknown",null,"PETERS ANOMALY (OMIM:604229), GLAUCOMA 3, PRIMARY CONGENITAL, A (OMIM:231300)","CYP1B1","c.*350C>A","NM_000104.3",null,null,"Intron","rs162562",100,{"$nulls":8},"A"]
["02160816100201_XZ",42669620,2,"T","CC",142,"0;0","69;71","0;0","0;2","0;0","0;0",0,1,0,0,536,"Unknown",null,"N/A","KCNG3","c.*1454A>G","NM_133329.5",null,null,"Intron","rs11684852",98.59,{"$nulls":8},"G"]
["02160816100201_XZ",44114281,2,"T","AT",14,"2;3","0;0","0;0","9;0","0;0","0;0",0,1,0,1,388,"Unknown",null,"LEIGH SYNDROME, FRENCH CANADIAN TYPE (OMIM:220111)","LRPPRC","c.*1458A>T","NM_133259.3",null,null,"Intron",null,35.71,{"$nulls":8},"T"]
["02160816100201_XZ",46583281,2,"C","TT",380,"0;0","1;3","1;0","208;167","1;0","0;0",0,0,0,1,5825,"Unknown","1.NA","ERYTHROCYTOSIS, FAMILIAL, 4 (OMIM:611783)","EPAS1","c.218-9C>T","NM_001430.4",null,null,"Intron","rs75984373",98.68,{"$nulls":6},"T",0.06629,"T",0.06629]
["02160816100201_XZ",47302095,2,"T","CC",394,"0;0","193;199","0;0","1;1","0;0","0;0",0,0,0,0,1389,"Unknown","1.AR","GASTROINTESTINAL DEFECTS AND IMMUNODEFIC... (OMIM:243150)","TTC7A","c.*1033T>C","NM_020458.2",null,null,"Intron","rs1046267",99.49,{"$nulls":6},"T",0.2009,"C",0.7991]
["02160816100201_XZ",50147171,2,"C","AC",59,"14;11","17;17","0;0","0;0","0;0","0;0",0,1,0,0,985,"Unknown","N/A","PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)","NRXN1","c.*1911G>T","NM_001135659.1",null,null,"Intron","rs11885824",42.37,{"$nulls":8},"T"]
["02160816100201_XZ",61414643,2,"T","-",58,"0;0","0;0","0;0","13;26","0;0","7;12",0,0,0,0,77,"Unknown",null,"N/A","AHSA2","-","NM_152392.3",null,null,"Intron",null,32.76,{"$nulls":8},"-"]
["02160816100201_XZ",61552628,2,"C","insG,CG",14,"0;0","4;7","3;0","0;0","3;0","0;0",0,1,0,1,0,"Unknown",null,"N/A","USP34","c.2931-36_2931-35insC,c.2931-36G>CG","NM_014709.3",null,null,"Intron",null,"21.43,21.43",{"$nulls":8},"C"]
["02160816100201_XZ",61560981,2,"C","insTC",8,"0;0","2;6","0;0","0;0","0;2","0;0",1,1,0,1,0,"Unknown",null,"N/A","USP34","c.2834+36_2834+37insGA","NM_014709.3",null,null,"Intron",null,25,{"$nulls":8},"insGA"]
["02160816100201_XZ",63713643,2,"A","AG",9,"4;3","0;0","0;2","0;0","0;0","0;0",1,1,0,1,1,"Unknown","1.AR/2.AR","CONGENITAL HEART DEFECTS, HAMARTOMAS OF ... (OMIM:217085)","WDPCP","c.253+33T>C","NM_015910.5",null,null,"Intron","rs771884297",22.22,{"$nulls":8},"C"]
["02160816100201_XZ",69420593,2,"A","AT",56,"4;20","0;0","2;0","13;17","0;0","0;0",0,0,0,1,3580,"Unknown","1.AR/2.AD，高外显率","GAPO SYNDROME (OMIM:230740)","ANTXR1","c.1434+46A>T","NM_032208.2",null,null,"Intron","rs76087957",53.57,{"$nulls":4},0.3908,0.4345,"T",0.3908,"T",0.3908]
["02160816100201_XZ",71871236,2,"A","GG",191,"0;0","0;0","77;112","0;0","0;0","0;2",0,0,0,0,7303,"Unknown","1.AR/2.AR/3.AR","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B (OMIM:253601), MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL O... (OMIM:606768), MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)","DYSF","c.4509+43A>G","NM_003494.3",null,null,"Intron","rs84182",98.95,{"$nulls":4},0.8383,0.8085,"A",0.1617,"G",0.8383]
["02160816100201_XZ",74477427,2,"G","AG",93,"34;11","0;0","33;15","0;0","0;0","0;0",0,1,0,0,1022,"Unknown","N/A","N/A","SLC4A5","c.1653+43C>T","NM_021196.3",null,null,"Intron","rs75131120",48.39,{"$nulls":8},"T"]
["02160816100201_XZ",85777270,2,"G","AG",153,"18;40","0;0","45;50","0;0","1;0","0;0",0,1,0,0,4303,"Unknown","1.NA/2.AR","VITAMIN K-DEPENDENT CLOTTING FACTORS, CO... (OMIM:277450), PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER W... (OMIM:610842)","GGCX","c.2085-21C>T","NM_000821.5",null,null,"Intron","rs2028898",37.91,{"$nulls":8},"T"]
["02160816100201_XZ",86276395,2,"C","CG",197,"0;1","40;67","39;49","0;0","0;0","1;0",0,0,0,0,609,"Unknown",null,"ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)","POLR1A","c.2393-30G>C","NM_015425.3",null,null,"Intron","rs10184159",44.67,{"$nulls":8},"C"]
["02160816100201_XZ",86317037,2,"G","CG",154,"0;0","35;49","31;39","0;0","0;0","0;0",0,0,0,0,3518,"Nonsynonymous",null,"ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)","POLR1A","c.448C>G","NM_015425.3","CDS4","p.P150A","Exon","rs4832242",54.55,0.7564,0.771,0.8492,0.7533,{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-0.812,".","."]
["02160816100201_XZ",103149927,2,"T","insA,GT",9,"0;0","0;0","2;0","3;4","2;0","0;0",1,1,0,1,0,"Unknown",null,"N/A","SLC9A4","c.*779_*780insA,c.*780T>GT","NM_001011552.3",null,null,"Intron",null,"22.22,22.22",{"$nulls":8},"G"]
["02160816100201_XZ",110922703,2,"C","TT",227,"1;0","0;0","0;0","111;115","0;0","0;0",0,1,0,0,6485,"Synonymous","1.AR/2.AR/3.AR","JOUBERT SYNDROME 4 (OMIM:609583), NEPHRONOPHTHISIS 1 (OMIM:256100), SENIOR-LOKEN SYNDROME 1 (OMIM:266900)","NPHP1","c.654G>A","NM_000272.3","CDS7","p.E218E","Exon","rs11675767",99.56,{"$nulls":8},"A"]
["02160816100201_XZ",113820476,2,"T","CT",203,"1;0","32;48","2;0","48;72","0;0","0;0",0,0,0,0,2736,"Unknown","AR","PSORIASIS 14, PUSTULAR (OMIM:614204)","IL36RN","c.*222T>C","NM_012275.2",null,null,"Intron","rs2515401",39.41,{"$nulls":6},"T",0.2847,"C",0.7153]
["02160816100201_XZ",114036436,2,"G","CC",311,"0;0","171;140","0;0","0;0","0;0","0;0",0,1,0,0,4726,"Unknown","AR?","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS,... (OMIM:218700)","PAX8","c.-104C>G","NM_003466.3",null,null,"Intron","rs2084163",100,{"$nulls":8},"G"]
["02160816100201_XZ",131802045,2,"C","CT",251,"0;1","50;96","1;0","30;73","0;0","0;0",0,0,0,0,859,"Synonymous",null,"N/A","ARHGEF4","c.1773C>T","NM_015320.3","CDS10","p.P591P","Exon","rs10928515",41.04,0.1502,0.1399,0.098,0.1875,null,null,"T",0.1843,"T",0.1843,{"$nulls":5},".",".",".","P",-1.319,".","."]
["02160816100201_XZ",152352843,2,"C","CG",174,"0;1","48;36","57;32","0;0","0;0","0;0",0,0,0,0,6145,"Nonsynonymous","AR","NEMALINE MYOPATHY 2 (OMIM:256030)","NEB","c.24538G>C","NM_001271208.1","CDS172","p.A8180P","Exon","rs7575451",51.15,0.685,0.785,0.6393,0.7772,{"$nulls":4},"C",{"$nulls":6},".,T",".,B",".,B","P",-0.12,".","."]
["02160816100201_XZ",152359277,2,"T","delT",8,"0;0","0;0","0;0","6;0","0;0","2;0",1,1,0,0,1943,"Unknown","AR","NEMALINE MYOPATHY 2 (OMIM:256030)","NEB","c.24033+30delA","NM_001271208.1",null,null,"Intron","rs201290038,rs749550758,rs768640371",25,{"$nulls":8},"delA"]
["02160816100201_XZ",152531781,2,"C","AC",175,"48;34","47;45","0;1","0;0","0;0","0;0",0,1,0,0,5540,"Unknown","AR","NEMALINE MYOPATHY 2 (OMIM:256030)","NEB","c.3879+20G>T","NM_001271208.1",null,null,"Intron","rs12618063",46.86,{"$nulls":8},"T"]
["02160816100201_XZ",152552062,2,"A","AC",142,"45;32","36;29","0;0","0;0","0;0","0;0",0,1,0,0,5217,"Unknown","AR","NEMALINE MYOPATHY 2 (OMIM:256030)","NEB","c.1674+30T>G","NM_001271208.1",null,null,"Intron","rs6433569",45.77,{"$nulls":8},"G"]
["02160816100201_XZ",158626980,2,"C","TT",258,"0;0","0;1","0;0","117;140","0;0","0;0",0,1,0,0,7279,"Synonymous",null,"FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)","ACVR1","c.690G>A","NM_001105.4","CDS5","p.E230E","Exon","rs1146031",99.61,{"$nulls":8},"A"]
["02160816100201_XZ",159313597,2,"C","CG",8,"0;0","4;1","0;3","0;0","0;1","0;0",1,1,0,1,37,"Unknown",null,"N/A","PKP4","c.-139C>G","NM_003628.3",null,null,"Intron","rs1017906614",37.5,{"$nulls":8},"G"]
["02160816100201_XZ",159459561,2,"T","CT",9,"0;0","0;4","0;0","2;3","0;0","0;0",1,1,0,1,3,"Unknown",null,"N/A","PKP4","c.246-21T>C","NM_003628.3",null,null,"Intron",null,44.44,{"$nulls":8},"C"]
["02160816100201_XZ",165537307,2,"G","CG",7,"0;0","0;2","2;2","0;1","0;0","0;0",1,1,0,1,0,"Unknown",null,"N/A","COBLL1","c.*5149C>G","NM_014900.4",null,null,"Intron",null,28.57,{"$nulls":8},"G"]
["02160816100201_XZ",166150549,2,"G","AG",5,"3;0","0;0","2;0","0;0","0;0","0;0",1,1,0,1,79,"Unknown","1.AD/2.AD","SEIZURES, BENIGN FAMILIAL INFANTILE, 3 (OMIM:607745), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:613721)","SCN2A","c.-148G>A","NM_021007.2",null,null,"Intron","rs886054995",60,{"$nulls":8},"A"]
["02160816100201_XZ",166150555,2,"T","AT",6,"2;0","0;0","0;0","3;1","0;0","0;0",1,1,0,1,2,"Unknown","1.AD/2.AD","SEIZURES, BENIGN FAMILIAL INFANTILE, 3 (OMIM:607745), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:613721)","SCN2A","c.-142T>A","NM_021007.2",null,null,"Intron",null,33.33,{"$nulls":8},"A"]
["02160816100201_XZ",166847034,2,"T","CC",94,"0;0","52;41","0;0","0;0","0;0","1;0",0,1,0,0,2211,"Unknown","AD","MIGRAINE, FAMILIAL HEMIPLEGIC, 3 (OMIM:609634), DRAVET SYNDROME (OMIM:607208), GENERALIZED EPILEPSY WITH FEBRILE SEIZUR... (OMIM:604403)","SCN1A","c.*721A>G","NM_001165963.1",null,null,"Intron","rs4667859",98.94,{"$nulls":8},"G"]
["02160816100201_XZ",167052556,2,"T","delTTAAAAAAGTT",19,"0;0","0;0","0;0","3;4","0;0","7;5",0,0,0,0,86,"Unknown","N/A","N/A","LOC101929680","c.*2614_*2624delAAAAAAGTTTT","XR_241346.1",null,null,"Intron","rs145255931",63.16,{"$nulls":8},"delAAAAAAGTTTT"]
["02160816100201_XZ",167060982,2,"A","-",52,"2;1","0;0","0;0","0;0","0;0","23;26",0,0,0,0,1109,"Unknown","N/A","N/A","LOC101929680","-","XR_241346.1",null,null,"Intron",null,94.23,{"$nulls":8},"-"]
["02160816100201_XZ",167313336,2,"A","AC",8,"4;2","0;2","0;0","0;0","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","SCN7A","c.1290+44T>G","NM_002976.3",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",170139346,2,"C","TT",100,"0;0","0;3","0;0","63;34","0;0","0;0",0,1,0,0,8200,"Unknown",null,"DONNAI-BARROW SYNDROME (OMIM:222448)","LRP2","c.1171+37G>A","NM_004525.2",null,null,"Intron","rs831010",97,{"$nulls":8},"A"]
["02160816100201_XZ",172339964,2,"C","TT",186,"0;0","1;0","1;0","66;117","0;0","0;1",0,0,0,0,4661,"Unknown","AR","WOODHOUSE-SAKATI SYNDROME (OMIM:241080)","DCAF17","c.*2340C>T","NM_025000.3",null,null,"Intron","rs888428",98.39,{"$nulls":4},0.9774,1,"C",0.02256,"T",0.9774]
["02160816100201_XZ",178491628,2,"T","delT",51,"0;0","0;0","1;0","17;20","3;4","4;9",0,0,1,0,451,"Unknown","AD","PIGMENTED NODULAR ADRENOCORTICAL DISEASE... (OMIM:610475)","PDE11A","c.*2507delA","NM_016953.3",null,null,"Intron","rs71010806",25.49,{"$nulls":8},"delA"]
["02160816100201_XZ",178753407,2,"C","AC",176,"41;30","60;45","0;0","0;0","0;0","0;0",0,1,0,0,331,"Unknown","AD","PIGMENTED NODULAR ADRENOCORTICAL DISEASE... (OMIM:610475)","PDE11A","c.1302+9378G>T","NM_016953.3",null,null,"Intron","rs4468852",40.34,{"$nulls":8},"T"]
["02160816100201_XZ",179553731,2,"T","delT",13,"0;0","0;0","0;0","7;3","0;0","1;2",0,0,0,0,3793,"Unknown","1.NA/2.NA/3.AR/4.AR/5NA/6.AD","CARDIOMYOPATHY, DILATED, 1G (OMIM:604145), MYOPATHY, EARLY-ONSET, WITH FATAL CARDIO... (OMIM:611705), TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334), HEREDITARY MYOPATHY WITH EARLY RESPIRATO... (OMIM:603689), CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 (OMIM:613765), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J (OMIM:608807)","TTN","c.28363+49delA","NM_133378.4",null,null,"Intron","rs35770337,rs397750652,rs535589169,rs749800402,rs772449066,rs778211544",23.08,{"$nulls":8},"delA"]
["02160816100201_XZ",179623758,2,"C","TT",133,"0;0","0;0","0;0","69;64","0;0","0;0",0,1,0,0,7745,"Nonsynonymous","1.NA/2.NA/3.AR/4.AR/5NA/6.AD","CARDIOMYOPATHY, DILATED, 1G (OMIM:604145), MYOPATHY, EARLY-ONSET, WITH FATAL CARDIO... (OMIM:611705), TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334), HEREDITARY MYOPATHY WITH EARLY RESPIRATO... (OMIM:603689), CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 (OMIM:613765), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J (OMIM:608807)","TTN","c.10256G>A","NM_133378.4","CDS43","p.S3419N","Exon","rs2291310",100,0.8429,0.7762,0.851,0.7636,{"$nulls":4},"A",{"$nulls":6},"T","B","B","P",-0.15,"Benign|Benign","not_specified|not_provided"]
["02160816100201_XZ",179669229,2,"G","delGGAG",114,"0;0","0;0","0;0","0;0","0;0","86;28",0,0,0,0,280,"Unknown","1.NA/2.NA/3.AR/4.AR/5NA/6.AD","CARDIOMYOPATHY, DILATED, 1G (OMIM:604145), MYOPATHY, EARLY-ONSET, WITH FATAL CARDIO... (OMIM:611705), TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334), HEREDITARY MYOPATHY WITH EARLY RESPIRATO... (OMIM:603689), CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 (OMIM:613765), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J (OMIM:608807)","TTN","c.91+47_91+50delCTCC","NM_133378.4",null,null,"Intron","rs3830329",100,{"$nulls":8},"delCTCC"]
["02160816100201_XZ",182402360,2,"A","-",13,"6;4","0;0","0;0","0;0","0;0","0;3",0,1,0,1,0,"Unknown","N/A","N/A","ITGA4","-","NM_000885.4",null,null,"Intron",null,23.08,{"$nulls":8},"-"]
["02160816100201_XZ",189875421,2,"T","GG",200,"1;1","0;0","111;84","2;1","1;0","0;0",0,0,0,0,8571,"Nonsynonymous","1.2.AD","EHLERS-DANLOS SYNDROME, TYPE III (OMIM:130020), EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOM... (OMIM:130050)","COL3A1","c.4059T>G","NM_000090.3","CDS50","p.H1353Q","Exon","rs1516446",97.5,0.9968,1,0.9985,1,0.9966,1,"T",3.395E-3,"G",0.9966,{"$nulls":5},"T","B","B","P",-0.729,".","."]
["02160816100201_XZ",191152404,2,"A","AG",28,"7;15","0;0","6;0","0;0","2;0","0;0",0,1,0,0,1,"Unknown","AR","3-@HYDROXYISOBUTYRYL-COA HYDROLASE DEFIC... (OMIM:250620)","HIBCH","c.386-40T>C","NM_014362.3",null,null,"Intron",null,21.43,{"$nulls":8},"C"]
["02160816100201_XZ",202505574,2,"T","AT",15,"0;4","0;0","0;0","6;5","0;0","0;0",0,1,0,1,1,"Unknown","AR","JOUBERT SYNDROME 14 (OMIM:614424)","TMEM237","c.74+42A>T","NM_001044385.2",null,null,"Intron",null,26.67,{"$nulls":8},"T"]
["02160816100201_XZ",204738054,2,"T","-",14,"0;0","0;0","0;0","0;0","0;0","10;4",0,0,0,0,1361,"Unknown",null,"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME,... (OMIM:616100)","CTLA4","-","NM_005214.4",null,null,"Intron",null,100,{"$nulls":8},"-"]
["02160816100201_XZ",204738062,2,"T","-",16,"0;0","0;0","0;0","0;2","0;0","10;4",0,0,0,0,1307,"Unknown",null,"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME,... (OMIM:616100)","CTLA4","-","NM_005214.4",null,null,"Intron",null,87.5,{"$nulls":8},"-"]
["02160816100201_XZ",204738083,2,"A","-",16,"0;2","0;0","0;0","0;0","0;0","10;4",0,0,0,0,476,"Unknown",null,"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME,... (OMIM:616100)","CTLA4","-","NM_005214.4",null,null,"Intron",null,87.5,{"$nulls":8},"-"]
["02160816100201_XZ",207006843,2,"C","AC",20,"5;0","3;12","0;0","0;0","0;0","0;0",0,1,0,1,2,"Unknown","AR","MITOCHONDRIAL COMPLEX I DEFICIENCY (OMIM:252010)","NDUFS1","c.1134-50G>T","NM_005006.6",null,null,"Intron",null,25,{"$nulls":8},"T"]
["02160816100201_XZ",208463719,2,"G","AA",22,"12;10","0;0","0;0","0;0","0;0","0;0",0,0,0,0,410,"Unknown",null,"HISTIOCYTOMA, ANGIOMATOID FIBROUS (OMIM:612160)","CREB1","c.*1937G>A","NM_134442.3",null,null,"Intron","rs56325368",100,{"$nulls":6},"A",0.1488,"A",0.1488]
["02160816100201_XZ",208469214,2,"T","delTCTT",194,"0;0","0;0","0;0","6;14","0;0","82;92",0,0,0,0,921,"Unknown",null,"HISTIOCYTOMA, ANGIOMATOID FIBROUS (OMIM:612160)","CREB1","c.*7436_*7439delTCTT","NM_134442.3",null,null,"Intron","rs4025849,rs796178473",89.69,{"$nulls":8},"delTCTT"]
["02160816100201_XZ",211543055,2,"T","CT",86,"0;0","16;35","0;0","15;20","0;0","0;0",0,0,0,0,655,"Unknown",null,"CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIE... (OMIM:237300)","CPS1","c.*346T>C","NM_001875.4",null,null,"Intron","rs715",59.3,{"$nulls":6},"C",0.2362,"C",0.2362]
["02160816100201_XZ",215593004,2,"C","AC",17,"0;5","8;4","0;0","0;0","0;0","0;0",0,1,0,1,0,"Unknown","N/A","N/A","BARD1","c.*138+258G>T","NM_000465.2",null,null,"Intron",null,29.41,{"$nulls":6},"T",0.004393,"T",0.004393]
["02160816100201_XZ",216249587,2,"C","TT",112,"0;0","0;2","0;0","63;47","0;1","0;0",0,1,0,0,7288,"Synonymous","1.AD/2.NA","GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS... (OMIM:601894)","FN1","c.4725G>A","NM_212482.1","CDS29","p.E1575E","Exon","rs13652",98.21,{"$nulls":8},"A"]
["02160816100201_XZ",217277569,2,"T","GT",69,"0;0","0;0","6;24","9;30","0;0","0;0",0,0,0,0,1038,"Unknown","AR","IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE (OMIM:242900)","SMARCAL1","c.-96+198T>G","NM_014140.3",null,null,"Intron","rs2276665",43.48,{"$nulls":6},"G",0.3824,"G",0.3824]
["02160816100201_XZ",220291474,2,"T","CC",104,"0;0","52;52","0;0","0;0","0;0","0;0",0,1,0,0,137,"Unknown",null,"N/A","LOC101928568","c.*749+13A>G","XR_241419.1",null,null,"Intron","rs11685408",100,{"$nulls":8},"G"]
["02160816100201_XZ",220502367,2,"A","CC",190,"1;0","99;90","0;0","0;0","0;0","0;0",0,0,0,0,7379,"Nonsynonymous","N/A","N/A","SLC4A3","c.2681A>C","NM_201574.2","CDS16","p.D894A","Exon","rs635311",99.47,0.7212,0.8444,0.7434,0.8356,null,null,"A",0.3225,"C",0.6775,"CM025961","NM_201574.2:c.2681C-A","missense/nonsense","DFP","Epilepsy,idiopathic generalised, association with","T","B","B","P",0.451,".","."]
["02160816100201_XZ",223919571,2,"A","AG",7,"1;3","0;0","3;0","0;0","0;0","0;0",1,1,0,1,1,"Unknown","N/A","N/A","KCNE4","c.*1510A>G","NM_080671.3",null,null,"Intron",null,42.86,{"$nulls":8},"G"]
["02160816100201_XZ",224832095,2,"A","AG",6,"0;3","0;0","0;3","0;0","0;0","0;0",1,1,0,1,5,"Unknown","N/A","COMBINED OXIDATIVE PHOSPHORYLATION DEFIC... (OMIM:615395)","MRPL44","c.*344A>G","NM_022915.3",null,null,"Intron",null,50,{"$nulls":8},"G"]
["02160816100201_XZ",225449978,2,"T","GT",7,"0;0","0;0","2;0","2;3","0;0","0;0",1,1,0,0,3,"Unknown",null,"PSEUDOHYPOALDOSTERONISM, TYPE IIE (OMIM:614496)","CUL3","c.-252A>C","NM_003590.4",null,null,"Intron",null,28.57,{"$nulls":8},"C"]
["02160816100201_XZ",227967605,2,"T","-",113,"0;0","0;0","1;0","29;46","0;0","16;21",0,0,0,0,6331,"Unknown",null,"ALPORT SYNDROME, AUTOSOMAL RECESSIVE (OMIM:203780)","COL4A4","-","NM_000092.4",null,null,"Intron","rs11274738,rs150877371,rs769515652",32.74,{"$nulls":8},"-"]
["02160816100201_XZ",227967606,2,"A","-",112,"29;46","0;0","0;0","0;0","0;0","16;21",0,0,0,0,6334,"Unknown",null,"ALPORT SYNDROME, AUTOSOMAL RECESSIVE (OMIM:203780)","COL4A4","-","NM_000092.4",null,null,"Intron",null,33.04,{"$nulls":8},"-"]
["02160816100201_XZ",228111435,2,"T","CC",138,"0;0","72;66","0;0","0;0","0;0","0;0",0,0,0,0,7335,"Nonsynonymous",null,"HEMATURIA, BENIGN FAMILIAL (OMIM:141200), ALPORT SYNDROME, AUTOSOMAL RECESSIVE (OMIM:203780), ALPORT SYNDROME, AUTOSOMAL DOMINANT (OMIM:104200)","COL4A3","c.422T>C","NM_000091.4","CDS7","p.L141P","Exon","rs10178458",100,0.8091,0.9038,0.8299,0.9136,0.7967,0.8978,"T",0.2033,"C",0.7967,{"$nulls":5},"T","B","B","P",-0.833,".","."]
["02160816100201_XZ",228179238,2,"G","AG",23,"8;8","0;0","4;3","0;0","0;0","0;0",0,0,0,0,721,"Unknown",null,"HEMATURIA, BENIGN FAMILIAL (OMIM:141200), ALPORT SYNDROME, AUTOSOMAL RECESSIVE (OMIM:203780), ALPORT SYNDROME, AUTOSOMAL DOMINANT (OMIM:104200)","COL4A3","c.*2652G>A","NM_000091.4",null,null,"Intron","rs57817160",69.57,{"$nulls":6},"A",0.3097,"A",0.3097]
["02160816100201_XZ",233208534,2,"T","CT",186,"0;0","47;49","1;0","38;51","0;0","0;0",0,0,0,0,1753,"Unknown","AR","PERLMAN SYNDROME (OMIM:267000)","DIS3L2","c.*568+6626T>C","NM_152383.4",null,null,"Intron","rs6711186",51.61,{"$nulls":6},"C",0.4393,"C",0.4393]
["02160816100201_XZ",233633460,2,"G","AG",136,"26;56","0;0","16;38","0;0","0;0","0;0",0,1,0,0,3966,"Nonsynonymous",null,"LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186), VITREORETINAL DEGENERATION, SNOWFLAKE TY... (OMIM:193230)","KCNJ13","c.524C>T","NM_002242.4","CDS2","p.T175I","Exon","rs1801251",60.29,0.2871,0.3164,0.3543,0.3175,{"$nulls":4},"T",{"$nulls":6},"T","B","B","P",-2.269,".","."]
["02160816100201_XZ",238243464,2,"C","GG",170,"0;2","1;0","70;93","0;1","0;0","2;1",0,1,0,0,6973,"Nonsynonymous",null,"ULLRICH CONGENITAL MUSCULAR DYSTROPHY (OMIM:254090), DYSTONIA 27 (OMIM:616411), BETHLEM MYOPATHY (OMIM:158810)","COL6A3","c.9034G>C","NM_004369.3","CDS40","p.A3012P","Exon","rs2270669",95.88,0.8031,0.7448,0.7727,0.7159,{"$nulls":4},"C",null,"CM151272","NM_004369.3:c.9034G-C","missense/nonsense","DM?","Neuromusculardisorder","T","B","B","P",-0.215,"Benign","not_specified"]
["02160816100201_XZ",240898620,2,"C","-",241,"0;0","82;68","0;0","0;0","0;0","36;55",0,0,0,1,609,"Unknown","AR","LEIGH SYNDROME (OMIM:256000)","NDUFA10","-","NM_004544.3",null,null,"Intron","rs1010330512,rs377048112,rs773325795,rs886055819",37.76,{"$nulls":8},"-"]
["02160816100201_XZ",240898635,2,"G","-",236,"3;3","0;0","74;66","0;0","0;0","36;54",0,0,0,1,605,"Unknown","AR","LEIGH SYNDROME (OMIM:256000)","NDUFA10","-","NM_004544.3",null,null,"Intron",null,38.14,{"$nulls":8},"-"]
["02160816100201_XZ",242684115,2,"T","CC",443,"0;0","279;161","0;0","0;2","0;1","0;1",0,0,0,0,4540,"Unknown","AR","D-2-@HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)","D2HGDH","c.685-9T>C","NM_152783.3",null,null,"Intron","rs4234097",99.32,{"$nulls":4},0.5611,0.3651,null,null,"C"]
["02160816100201_XZ",361508,3,"C","TT",87,"1;0","0;0","1;0","37;48","0;0","0;0",0,0,0,0,3898,"Nonsynonymous","N/A","N/A","CHL1","c.49C>T","NM_006614.3","CDS1","p.L17F","Exon","rs2272522",97.7,0.3104,0.3077,0.2601,0.3395,0.352,0.3085,"T",0.352,"T",0.352,"CM023348","NM_006614.3:c.49C-T","missense/nonsense","DP","Schizophrenia,association with","T","B","B","P",-1.197,".","."]
["02160816100201_XZ",449563,3,"G","AA",115,"59;55","0;0","1;0","0;0","0;0","0;0",0,0,0,0,1013,"Unknown","N/A","N/A","CHL1","c.*2169G>A","NM_006614.3",null,null,"Intron","rs3931062",99.13,{"$nulls":6},"G",0.02476,"A",0.9752]
["02160816100201_XZ",9985656,3,"C","CT",274,"0;0","77;79","0;0","60;58","0;0","0;0",0,0,0,0,2806,"Unknown",null,"ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTI... (OMIM:606217)","CRELD1","c.1049-393C>T","NM_015513.4",null,null,"Intron","rs3774207",43.07,{"$nulls":4},0.38,0.1558,"T",0.38,"T",0.38]
["02160816100201_XZ",10195299,3,"T","GT",44,"2;0","0;0","8;13","7;14","0;0","0;0",0,0,0,1,1757,"Unknown","1.AR/2.NA/3.AD/4.NA/5.AD","RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700), VON HIPPEL-LINDAU SYNDROME (OMIM:193300), ERYTHROCYTOSIS, FAMILIAL, 2 (OMIM:263400), PHEOCHROMOCYTOMA (OMIM:171300)","VHL","c.*3650T>G","NM_000551.3",null,null,"Intron","rs35001715",47.73,{"$nulls":8},"G"]
["02160816100201_XZ",10420087,3,"T","CC",133,"1;1","53;73","1;0","0;4","0;0","0;0",0,1,0,0,5945,"Synonymous","AR","N/A","ATP2B2","c.915A>G","NM_001683.3","CDS6","p.Q305Q","Exon","rs751122",94.74,{"$nulls":8},"G"]
["02160816100201_XZ",13670481,3,"A","GG",202,"3;3","1;0","110;84","1;0","0;0","0;0",0,0,0,0,2959,"Synonymous",null,"N/A","FBLN2","c.2646A>G","NM_001004019.1","CDS11","p.T882T","Exon","rs2242023",96.04,{"$nulls":4},0.6779,0.7629,"A",0.3221,"G",0.6779]
["02160816100201_XZ",14174427,3,"A","TT",117,"1;1","0;0","0;0","42;73","0;0","0;0",0,0,0,0,4875,"Nonsynonymous","AD","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLAS... (OMIM:604400), EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUT... (OMIM:614302)","TMEM43","c.504A>T","NM_024334.2","CDS6","p.K168N","Exon","rs4685076",98.29,0.3301,0.4091,0.3208,0.4366,0.3526,0.4613,"T",0.3526,"T",0.3526,{"$nulls":5},"T","B","B","P",0.482,"Benign|Benign","not_specified|not_provided"]
["02160816100201_XZ",14187699,3,"T","CC",207,"0;0","107;100","0;0","0;0","0;0","0;0",0,1,0,0,6404,"Unknown","AR","XERODERMA PIGMENTOSUM, COMPLEMENTATION G... (OMIM:278720)","XPC","c.2605-40A>G","NM_004628.4",null,null,"Intron","rs2733532",100,{"$nulls":8},"G"]
["02160816100201_XZ",20225071,3,"A","AG",103,"35;32","0;0","22;14","0;0","0;0","0;0",0,1,0,0,1050,"Unknown",null,"N/A","SGOL1","c.339+29T>C","NM_001199252.1",null,null,"Intron","rs17006703",34.95,{"$nulls":8},"C"]
["02160816100201_XZ",30686414,3,"A","AG",121,"20;45","0;0","19;37","0;0","0;0","0;0",0,0,0,0,6846,"Unknown",null,"ESOPHAGEAL CANCERESOPHAGEAL SQUAMOUS CEL... (OMIM:133239), LOEYS-DIETZ SYNDROME 2 (OMIM:610168), COLORECTAL CANCER, HEREDITARY NONPOLYPOS... (OMIM:614331)","TGFBR2","c.263+7A>G","NM_003242.5",null,null,"Intron","rs1155705",46.28,{"$nulls":4},0.4129,0.7054,"G",0.4129,"G",0.4129]
["02160816100201_XZ",32208621,3,"T","CC",238,"0;0","131;106","0;0","1;0","0;0","0;0",0,0,0,0,1124,"Unknown","N/A","BRUGADA SYNDROME 2 (OMIM:611777)","GPD1L","c.*1219T>C","NM_015141.3",null,null,"Intron","rs2813",99.58,{"$nulls":6},"C",0.4816,"C",0.4816]
["02160816100201_XZ",33138763,3,"C","AC",67,"10;14","17;26","0;0","0;0","0;0","0;0",0,0,0,1,3102,"Unknown",null,"N/A","N/A","c.-117-69C>A",{"$nulls":3},"Intron","rs7637133",35.82,{"$nulls":6},"A",0.4327,"A",0.4327]
["02160816100201_XZ",38525324,3,"G","CC",80,"1;0","20;59","0;0","0;0","1;0","0;0",0,0,0,0,850,"Unknown",null,"HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)","ACVR2B","c.*501G>C","NM_001106.3",null,null,"Intron","rs61085191",98.75,{"$nulls":6},"C",0.09385,"C",0.09385]
["02160816100201_XZ",38527169,3,"T","-",38,"0;0","0;0","0;0","3;2","0;0","9;24",0,0,0,0,189,"Unknown",null,"HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)","ACVR2B","-","NM_001106.3",null,null,"Intron",null,86.84,{"$nulls":8},"-"]
["02160816100201_XZ",38534273,3,"A","-",33,"0;1","0;0","0;0","0;0","0;0","23;9",0,0,0,0,76,"Unknown",null,"HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)","ACVR2B","-","NM_001106.3",null,null,"Intron",null,96.97,{"$nulls":8},"-"]
["02160816100201_XZ",38534288,3,"C","-",33,"0;0","0;1","0;0","0;0","0;0","23;9",0,0,0,0,116,"Unknown",null,"HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)","ACVR2B","-","NM_001106.3",null,null,"Intron","rs199770306,rs760425656,rs767998054,rs879511250,rs886058436",96.97,{"$nulls":8},"-"]
["02160816100201_XZ",38627154,3,"G","insT",46,"0;0","0;1","24;20","0;1","17;6","0;0",0,0,0,1,1862,"Unknown","1.AD/2.AD/3.AD/4.AD/5.AD/6.AD/7.AR/8.N/A","PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I... (OMIM:113900), LONG QT SYNDROME 3 (OMIM:603830), VENTRICULAR FIBRILLATION DURING MYOCARDI... (OMIM:603829), ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022), SICK SINUS SYNDROME 1, AUTOSOMAL RECESSI... (OMIM:608567), BRUGADA SYNDROME 1 (OMIM:601144), CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)","SCN5A","c.2787+28_2787+29insA","NM_198056.2",null,null,"Intron",null,50,{"$nulls":8},"insA"]
["02160816100201_XZ",38887289,3,"T","delTA",44,"0;0","0;0","1;0","9;17","0;0","6;11",0,0,0,0,1096,"Unknown","1.AD/2.AD","NEUROPATHY, HEREDITARY SENSORY AND AUTON... (OMIM:615548), EPISODIC PAIN SYNDROME, FAMILIAL, 3 (OMIM:615552)","SCN11A","c.*895_*896delTA","NM_014139.2",null,null,"Intron","rs10594301,rs10604142,rs761161370,rs774407499,rs869095118,rs869251328,rs869294838",38.64,{"$nulls":8},"delTA"]
["02160816100201_XZ",39322665,3,"A","AG",197,"49;52","0;0","46;50","0;0","0;0","0;0",0,1,0,0,3174,"Unknown","N/A","N/A","CX3CR1","c.-92-1138T>C","NM_001337.3",null,null,"Intron","rs938203",48.73,{"$nulls":8},"C"]
["02160816100201_XZ",41746803,3,"A","AG",19,"5;10","0;0","4;0","0;0","0;0","0;0",0,1,0,0,1,"Unknown",null,"N/A","ULK4","c.2635-6T>C","NM_017886.2",null,null,"Intron",null,21.05,{"$nulls":8},"C"]
["02160816100201_XZ",41952781,3,"C","TT",36,"0;0","0;1","0;0","18;17","0;0","0;0",0,1,0,0,3077,"Unknown",null,"N/A","ULK4","c.1085+28G>A","NM_017886.2",null,null,"Intron","rs1716991",97.22,{"$nulls":8},"A"]
["02160816100201_XZ",45867383,3,"T","AT",14,"0;5","0;1","0;0","3;5","0;0","0;0",0,1,0,1,1,"Unknown",null,"BARDET-BIEDL SYNDROME 17 (OMIM:615994)","LZTFL1","c.*423A>T","NM_020347.3",null,null,"Intron",null,35.71,{"$nulls":8},"T"]
["02160816100201_XZ",46623371,3,"G","CG",65,"0;0","21;15","15;14","0;0","0;0","0;0",0,0,0,0,486,"Unknown","1.NA","TERATOCARCINOMA-DERIVED GROWTH FACTOR 1 (OMIM:187395)","TDGF1","c.*631G>C","NM_003212.3",null,null,"Intron","rs55923987",55.38,{"$nulls":6},"C",0.07708,"C",0.07708]
["02160816100201_XZ",47047358,3,"A","AC",308,"67;71","95;75","0;0","0;0","0;0","0;0",0,0,0,0,2976,"Unknown","AR","GRAY PLATELET SYNDROME (OMIM:139090)","NBEAL2","c.6801+21A>C","NM_015175.2",null,null,"Intron","rs13081418",55.19,{"$nulls":4},0.234,0.2808,"C",0.234,"C",0.234]
["02160816100201_XZ",49507847,3,"G","AA",70,"48;22","0;0","0;0","0;0","0;0","0;0",0,0,0,0,2669,"Unknown","AR","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (L... (OMIM:613818)","DAG1","c.-136G>A","NM_004393.5",null,null,"Intron","rs4855839",100,{"$nulls":6},"G",0.4171,"A",0.5829]
["02160816100201_XZ",50400899,3,"G","insGTGTGTGTGCACAGAGC",375,"0;0","0;0","183;192","0;0","82;78","0;0",0,0,0,0,412,"Unknown",null,"N/A","CACNA2D2","c.*1198_*1199insGCTCTGTGCACACACAC","NM_006030.2",null,null,"Intron","rs11267884,rs796673231",42.67,{"$nulls":8},"insGCTCTGTGCACACACAC"]
["02160816100201_XZ",54798258,3,"G","AG",280,"71;51","0;1","88;68","0;1","0;0","0;0",0,0,0,0,5061,"Synonymous","N/A","N/A","CACNA2D3","c.1260G>A","NM_018398.2","CDS13","p.Q420Q","Exon","rs3732748",43.57,{"$nulls":6},"A",0.392,"A",0.392]
["02160816100201_XZ",55038898,3,"A","GG",81,"0;0","0;0","19;62","0;0","0;0","0;0",0,0,0,0,6833,"Unknown","N/A","N/A","CACNA2D3","c.2766+33A>G","NM_018398.2",null,null,"Intron","rs4955827",100,{"$nulls":6},"A",0.01218,"G",0.9878]
["02160816100201_XZ",58094157,3,"A","GG",189,"0;0","0;0","104;84","0;1","0;0","0;0",0,0,0,0,7416,"Unknown","略","BOOMERANG DYSPLASIA (OMIM:112310), SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460), ATELOSTEOGENESIS, TYPE III (OMIM:108721), LARSEN SYNDROME (OMIM:150250), ATELOSTEOGENESIS, TYPE I (OMIM:108720)","FLNB","c.1942-28A>G","NM_001457.3",null,null,"Intron","rs2259091",99.47,{"$nulls":6},"A",0.3395,"G",0.6605]
["02160816100201_XZ",58145263,3,"G","AA",144,"84;60","0;0","0;0","0;0","0;0","0;0",0,0,0,0,7434,"Unknown","略","BOOMERANG DYSPLASIA (OMIM:112310), SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460), ATELOSTEOGENESIS, TYPE III (OMIM:108721), LARSEN SYNDROME (OMIM:150250), ATELOSTEOGENESIS, TYPE I (OMIM:108720)","FLNB","c.6889-18G>A","NM_001457.3",null,null,"Intron","rs12634123",100,{"$nulls":4},0.7486,0.998,"G",0.2514,"A",0.7486]
["02160816100201_XZ",58413465,3,"G","CC",60,"0;0","43;16","0;1","0;0","0;0","0;0",0,1,0,0,4911,"Unknown","N/A","PYRUVATE DEHYDROGENASE E1-BETA DEFICIENC... (OMIM:614111)","PDHB","c.*296C>G","NM_000925.3",null,null,"Intron","rs7231",98.33,{"$nulls":8},"G"]
["02160816100201_XZ",69047141,3,"G","AG",159,"38;32","0;0","48;40","0;1","0;0","0;0",0,1,0,0,2513,"Unknown",null,"ADAMS-OLIVER SYNDROME 4 (OMIM:615297)","EOGT","c.831+21C>T","NM_173654.2",null,null,"Intron","rs4855544",44.03,{"$nulls":8},"T"]
["02160816100201_XZ",69220042,3,"G","AG",51,"14;16","0;0","10;11","0;0","0;0","0;0",0,1,0,1,95,"Unknown",null,"N/A","FRMD4B","c.*970C>T","NM_015123.1",null,null,"Intron","rs78588280",58.82,{"$nulls":8},"T"]
["02160816100201_XZ",71004981,3,"G","AG",45,"5;5","0;0","24;10","1;0","0;0","0;0",0,1,0,0,25,"Unknown","1.AD","MENTAL RETARDATION WITH LANGUAGE IMPAIRM... (OMIM:613670)","FOXP1","c.*3417C>T","NM_032682.5",null,null,"Intron","rs201040980",22.22,{"$nulls":8},"T"]
["02160816100201_XZ",81548210,3,"A","insAAG",67,"40;25","0;2","0;0","0;0","35;20","0;0",0,0,0,0,3884,"Unknown","1.AR/2.AR","GLYCOGEN STORAGE DISEASE IV (OMIM:232500), POLYGLUCOSAN BODY DISEASE, ADULT FORM (OMIM:263570)","GBE1","c.2052+51_2052+52insCTT","NM_000158.3",null,null,"Intron","rs34988523,rs57067820,rs67415601",82.09,{"$nulls":8},"insCTT"]
["02160816100201_XZ",111370192,3,"G","GT",188,"0;0","0;1","35;56","37;59","0;0","0;0",0,0,0,0,840,"Unknown","AR","C SYNDROME (OMIM:211750)","CD96","c.*1539G>T","NM_198196.2",null,null,"Intron","rs6763322",51.06,{"$nulls":6},"T",0.2845,"T",0.2845]
["02160816100201_XZ",111370557,3,"G","AG",19,"0;4","0;0","1;14","0;0","0;0","0;0",0,1,0,0,2,"Unknown","AR","C SYNDROME (OMIM:211750)","CD96","c.*1904G>A","NM_198196.2",null,null,"Intron",null,21.05,{"$nulls":8},"A"]
["02160816100201_XZ",111985107,3,"T","CC",28,"0;0","12;16","0;0","0;0","0;0","0;0",0,1,0,0,1663,"Nonsynonymous",null,"N/A","SLC9C1","c.856A>G","NM_183061.1","CDS7","p.I286V","Exon","rs9872691",100,0.3109,0.3234,0.3031,0.3836,{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-0.186,".","."]
["02160816100201_XZ",111993729,3,"T","CT",7,"0;0","0;2","0;0","1;4","0;0","0;0",1,1,0,0,3,"Unknown",null,"N/A","SLC9C1","c.613+15A>G","NM_183061.1",null,null,"Intron",null,28.57,{"$nulls":8},"G"]
["02160816100201_XZ",119128628,3,"A","AG",68,"10;22","0;0","10;26","0;0","0;0","0;0",0,0,0,0,6385,"Unknown","AD","ADAMS-OLIVER SYNDROME (OMIM:100300)","ARHGAP31","c.1926+5A>G","NM_020754.2",null,null,"Intron","rs1463139",52.94,{"$nulls":4},0.6338,0.4792,"A",0.3662,"G",0.6338]
["02160816100201_XZ",122004612,3,"C","GG",203,"0;0","0;1","102;100","0;0","0;0","0;0",0,0,0,0,1880,"Unknown","1.NA/2.AD/AR/3.4.5.AD","HYPERPARATHYROIDISM, NEONATAL SEVERE PRI... (OMIM:239200), HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198), HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, T... (OMIM:145980)","CASR","c.*574C>G","NM_000388.3",null,null,"Intron","rs6438718",99.51,{"$nulls":6},"C",0.03135,"G",0.9687]
["02160816100201_XZ",123419733,3,"A","AG",239,"55;50","0;0","63;71","0;0","0;0","0;0",0,1,0,0,6045,"Nonsynonymous","AD","AORTIC ANEURYSM, FAMILIAL THORACIC 7 (OMIM:613780)","MYLK","c.2582T>C","NM_053025.3","CDS15","p.L861P","Exon","rs3732486",56.07,0.2381,0.5245,0.1196,0.5579,{"$nulls":4},"C",{"$nulls":6},"T","B","B","P",-0.215,".","."]
["02160816100201_XZ",123457711,3,"C","AA",214,"144;68","0;1","0;0","1;0","0;0","0;0",0,1,0,0,7630,"Unknown","AD","AORTIC ANEURYSM, FAMILIAL THORACIC 7 (OMIM:613780)","MYLK","c.588+33G>T","NM_053025.3",null,null,"Intron","rs2198766",99.07,{"$nulls":8},"T"]
["02160816100201_XZ",124456388,3,"G","-",28,"0;0","0;0","15;7","0;0","0;0","0;6",0,1,0,1,1,"Unknown","1.AR","OROTIC ACIDURIA (OMIM:258900)","UMPS","-","NM_000373.3",null,null,"Intron",null,21.43,{"$nulls":8},"-"]
["02160816100201_XZ",124465607,3,"T","-",187,"0;0","0;0","0;0","24;24","0;0","69;70",0,0,0,0,3790,"Unknown","1.AR","OROTIC ACIDURIA (OMIM:258900)","UMPS","-","NM_000373.3",null,null,"Intron",null,74.33,{"$nulls":8},"-"]
["02160816100201_XZ",124466921,3,"A","CT",10,"0;1","2;0","0;0","2;5","0;0","0;0",0,1,0,0,28,"Unknown","1.AR","OROTIC ACIDURIA (OMIM:258900)","UMPS","c.*3990A>C","NM_000373.3",null,null,"Intron","rs77082052","20.00,70.00",{"$nulls":6},"T",0.1861,"T",0.1861]
["02160816100201_XZ",128614133,3,"C","TT",228,"0;0","0;1","0;0","145;82","0;0","0;0",0,0,0,1,6852,"Unknown",null,"ACYL-COA DEHYDROGENASE FAMILY, MEMBER 9,... (OMIM:611126)","ACAD9","c.347-20C>T","NM_014049.4",null,null,"Intron","rs1683791",99.56,{"$nulls":4},0.6581,0.6806,"C",0.3419,"T",0.6581]
["02160816100201_XZ",128887375,3,"T","GT",7,"0;0","0;1","0;3","2;1","0;0","0;0",1,1,0,1,766,"Unknown",null,"DYSTROPHIA MYOTONICA 2 (OMIM:602668)","CNBP","c.*1921A>C","NM_001127192.1",null,null,"Intron","rs982618313",42.86,{"$nulls":8},"C"]
["02160816100201_XZ",128887437,3,"C","CT",7,"0;0","5;0","0;0","0;2","0;0","0;0",1,1,0,1,4,"Unknown",null,"DYSTROPHIA MYOTONICA 2 (OMIM:602668)","CNBP","c.*1859G>A","NM_001127192.1",null,null,"Intron",null,28.57,{"$nulls":8},"A"]
["02160816100201_XZ",128888047,3,"G","GT",12,"0;0","0;0","7;2","0;3","0;0","0;0",0,1,0,1,1,"Unknown",null,"DYSTROPHIA MYOTONICA 2 (OMIM:602668)","CNBP","c.*1249C>A","NM_001127192.1",null,null,"Intron",null,25,{"$nulls":8},"A"]
["02160816100201_XZ",131186893,3,"C","AC",31,"0;8","18;5","0;0","0;0","0;0","0;0",0,1,0,0,32,"Unknown",null,"COMBINED OXIDATIVE PHOSPHORYLATION DEFIC... (OMIM:614582)","MRPL3","c.894+42G>T","NM_007208.3",null,null,"Intron","rs200782875",25.81,{"$nulls":8},"T"]
["02160816100201_XZ",132441257,3,"A","-",112,"16;41","0;0","1;0","1;0","0;0","21;32",0,0,0,0,11,"Unknown","N/A","N/A","NPHP3-ACAD11","-","NR_037804.1",null,null,"Intron",null,47.32,{"$nulls":8},"-"]
["02160816100201_XZ",132441272,3,"G","-",90,"0;0","0;0","10;26","1;0","0;0","21;32",0,0,0,0,12,"Unknown","N/A","N/A","NPHP3-ACAD11","-","NR_037804.1",null,null,"Intron",null,58.89,{"$nulls":8},"-"]
["02160816100201_XZ",138067626,3,"C","CT",29,"0;0","19;3","0;0","4;3","0;0","0;0",0,0,0,0,609,"Unknown",null,"N/A","MRAS","c.-19+459C>T","NM_012219.4",null,null,"Intron","rs11713141",24.14,{"$nulls":6},"C",0.3818,"T",0.6182]
["02160816100201_XZ",142215162,3,"A","AG",5,"1;1","0;1","1;1","0;0","0;0","0;0",1,1,0,0,137,"Unknown","1.2.AR","CUTANEOUS TELANGIECTASIA AND CANCER SYND... (OMIM:614564), SECKEL SYNDROME 1 (OMIM:210600)","ATR","c.5898+41T>C","NM_001184.3",null,null,"Intron",null,40,{"$nulls":8},"C"]
["02160816100201_XZ",142525589,3,"G","GT",9,"0;0","0;0","2;5","2;0","0;0","0;0",1,1,0,0,1,"Unknown","N/A","N/A","TRPC1","c.*512G>T","NM_001251845.1",null,null,"Intron",null,22.22,{"$nulls":8},"T"]
["02160816100201_XZ",148460467,3,"C","AA",168,"74;93","0;0","1;0","0;0","0;0","0;0",0,0,0,1,1232,"Unknown",null,"RENAL TUBULAR DYSGENESIS (OMIM:267430)","AGTR1","c.*565C>A","NM_031850.3",null,null,"Intron","rs440881",99.4,{"$nulls":6},"C",0,"A",1]
["02160816100201_XZ",150645408,3,"G","AA",28,"21;7","0;0","0;0","0;0","0;0","0;0",0,1,0,0,4857,"Unknown","1.NA/2.AR","RETINITIS PIGMENTOSA 61 (OMIM:614180), USHER SYNDROME, TYPE IIIA (OMIM:276902)","CLRN1","c.*315C>T","NM_174878.2",null,null,"Intron","rs1456138",100,{"$nulls":8},"T"]
["02160816100201_XZ",151056598,3,"A","CC",286,"2;0","138;145","1;0","0;0","0;0","0;0",0,1,0,1,7088,"Synonymous","AR","BLEEDING DISORDER DUE TO P2RY12 DEFECT (OMIM:609821)","P2RY12","c.36T>G","NM_022788.4","CDS1","p.G12G","Exon","rs6809699",98.95,{"$nulls":8},"G"]
["02160816100201_XZ",156255517,3,"A","-",39,"0;0","0;0","0;0","0;1","0;0","25;13",0,0,0,0,535,"Unknown",null,"N/A","KCNAB1","-","NM_172160.2",null,null,"Intron",null,97.44,{"$nulls":8},"-"]
["02160816100201_XZ",178935957,3,"A","AG",8,"2;1","0;0","3;2","0;0","0;0","0;0",1,0,0,0,64,"Unknown","1.AD/2.IC/3.AD/4.5N/A/6.7.AD/8.9 N/A/10.AR/11.AD","BREAST CANCER (OMIM:114480), KERATOSIS, SEBORRHEIC (OMIM:182000), CONGENITAL LIPOMATOUS OVERGROWTH, VASCUL... (OMIM:612918), HEPATOCELLULAR CARCINOMA (OMIM:114550), COWDEN SYNDROME 5 (OMIM:615108), GASTRIC CANCERGASTRIC CANCER, INTESTINAL... (OMIM:613659), LUNG CANCERALVEOLAR CELL CARCINOMA, INCL... (OMIM:211980), NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC (OMIM:162900), COLORECTAL CANCER (OMIM:114500), MEGALENCEPHALY-CAPILLARY MALFORMATION-PO... (OMIM:602501), OVARIAN CANCEROVARIAN CANCER, EPITHELIAL... (OMIM:167000)","PIK3CA","c.1540-41A>G","NM_006218.2",null,null,"Intron","rs3729686",62.5,{"$nulls":4},0.004,0.0198,"G",0.003994,"G",0.003994]
["02160816100201_XZ",180702282,3,"T","CT",19,"0;0","4;0","0;0","5;10","0;0","0;0",0,1,0,1,0,"Unknown","AR","3-@METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)","DNAJC19","c.*146A>G","NM_145261.3",null,null,"Intron",null,21.05,{"$nulls":8},"G"]
["02160816100201_XZ",184075047,3,"A","AG",374,"88;87","0;0","109;87","1;0","0;0","0;2",0,1,0,1,5418,"Synonymous","1.AR/2，3，4AD","LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)","CLCN2","c.906T>C","NM_004366.5","CDS9","p.I302I","Exon","rs2228291",52.41,{"$nulls":8},"C"]
["02160816100201_XZ",186574183,3,"T","CT",12,"0;0","3;2","0;0","3;4","0;0","0;0",0,0,0,0,464,"Unknown",null,"N/A","ADIPOQ","c.*1690T>C","NM_004797.3",null,null,"Intron","rs1063538",41.67,{"$nulls":6},"C",0.4974,"C",0.4974]
["02160816100201_XZ",186937568,3,"A","AG",240,"64;58","0;0","56;62","0;0","0;0","0;0",0,1,0,0,2595,"Unknown",null,"3MC SYNDROME 1 (OMIM:257920)","MASP1","c.*1602+14302T>C","NM_139125.3",null,null,"Intron","rs17040",49.17,{"$nulls":8},"C"]
["02160816100201_XZ",186952588,3,"G","AG",297,"88;81","0;0","57;70","0;0","0;0","1;0",0,1,0,1,1559,"Unknown",null,"3MC SYNDROME 1 (OMIM:257920)","MASP1","c.*884C>T","NM_139125.3",null,null,"Intron","rs1109452",56.9,{"$nulls":8},"T"]
["02160816100201_XZ",188595672,3,"G","CG",102,"0;0","30;29","24;19","0;0","0;0","0;0",0,0,0,1,640,"Unknown",null,"LEUKEMIA, ACUTE MYELOID (OMIM:601626)","LPP","c.*3405G>C","NM_005578.3",null,null,"Intron","rs1064607",57.84,{"$nulls":6},"C",0.4225,"C",0.4225]
["02160816100201_XZ",188598763,3,"A","-",15,"0;11","0;0","0;0","0;0","0;0","0;4",0,1,0,1,4,"Unknown",null,"LEUKEMIA, ACUTE MYELOID (OMIM:601626)","LPP","-","NM_005578.3",null,null,"Intron",null,26.67,{"$nulls":8},"-"]
["02160816100201_XZ",188601358,3,"A","-",14,"1;10","0;0","0;0","0;0","0;0","0;3",0,1,0,0,6,"Unknown",null,"LEUKEMIA, ACUTE MYELOID (OMIM:601626)","LPP","-","NM_005578.3",null,null,"Intron",null,21.43,{"$nulls":8},"-"]
["02160816100201_XZ",188601359,3,"A","-",14,"1;10","0;0","0;0","0;0","0;0","0;3",0,1,0,0,1,"Unknown",null,"LEUKEMIA, ACUTE MYELOID (OMIM:601626)","LPP","-","NM_005578.3",null,null,"Intron",null,21.43,{"$nulls":8},"-"]
["02160816100201_XZ",188604527,3,"A","insACACACAC",27,"16;11","0;0","0;0","0;0","6;4","0;0",0,0,0,0,398,"Unknown",null,"LEUKEMIA, ACUTE MYELOID (OMIM:601626)","LPP","c.*12287_*12288insACACACAC","NM_005578.3",null,null,"Intron","rs755287902",37.04,{"$nulls":8},"insACACACAC"]
["02160816100201_XZ",197677023,3,"A","delA",258,"67;34","0;1","1;0","0;0","0;0","94;61",0,0,0,0,94,"Unknown",null,"N/A","IQCG","c.-59-4466delT","NM_032263.3",null,null,"Intron","rs28365869",60.08,{"$nulls":8},"delT"]
["02160816100201_XZ",1349029,4,"G","AG",146,"33;45","0;0","28;40","0;0","0;0","0;0",0,0,0,0,4730,"Nonsynonymous","1.AR","UV-SENSITIVE SYNDROME 3 (OMIM:614640)","UVSSA","c.1172G>A","NM_020894.2","CDS6","p.R391H","Exon","rs2276904",53.42,0.2257,0.4248,0.1267,0.4352,null,null,"A",0.2404,"A",0.2404,{"$nulls":5},"T","B","B","P",-2.56,".","."]
["02160816100201_XZ",1381071,4,"G","-",9,"0;0","0;0","7;0","0;0","0;0","0;2",1,1,0,1,0,"Unknown","1.AR","UV-SENSITIVE SYNDROME 3 (OMIM:614640)","UVSSA","-","NM_020894.2",null,null,"Intron",null,22.22,{"$nulls":8},"-"]
["02160816100201_XZ",1940143,4,"C","delC,CT",7,"0;0","0;2","0;0","2;1","0;0","0;2",1,1,0,0,0,"Unknown","N/A","N/A","WHSC1","c.1675-35delC,c.1675-35C>CT","NM_001042424.2",null,null,"Intron","rs143787373,rs772434102","28.57,42.86",{"$nulls":8},"T"]
["02160816100201_XZ",2842729,4,"G","GT",10,"0;0","0;0","5;1","1;3","0;0","0;0",0,0,0,0,0,"Unknown","AD","CHERUBISM (OMIM:118400)","SH3BP2","c.*7168G>T","NM_003023.4",null,null,"Intron","rs185201915",40,{"$nulls":8},"T"]
["02160816100201_XZ",3769300,4,"G","-",8,"0;0","0;0","2;0","0;0","0;0","6;0",1,1,0,0,903,"In-frame","N/A","N/A","ADRA2C","-","NM_000683.3","CDS1",null,"Exon",null,75,{"$nulls":8},"-"]
["02160816100201_XZ",5710988,4,"A","delAGG",260,"23;27","2;2","0;0","0;0","0;0","101;105",0,0,0,0,590,"Unknown",null,"WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530), ELLIS-VAN CREVELD SYNDROME (OMIM:225500), EVC2 GENE (OMIM:607261)","EVC2","c.-54-696_-54-694delCCT","NM_147127.4",null,null,"Intron","rs35896003,rs67550450,rs764780490,rs772310935",79.23,{"$nulls":8},"delCCT"]
["02160816100201_XZ",5754544,4,"T","CT",213,"0;0","65;42","0;0","61;45","0;0","0;0",0,0,0,0,4281,"Unknown","1.AR/2.AD","WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530), ELLIS-VAN CREVELD SYNDROME (OMIM:225500)","EVC","c.1099-19T>C","NM_153717.2",null,null,"Intron","rs899691",50.23,{"$nulls":4},0.3215,0.3234,"C",0.3215,"C",0.3215]
["02160816100201_XZ",5815112,4,"A","-",12,"8;1","0;0","0;0","0;0","0;0","0;3",0,1,0,0,4,"Unknown","1.AR/2.AD","WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530), ELLIS-VAN CREVELD SYNDROME (OMIM:225500)","EVC","-","NM_153717.2",null,null,"Intron",null,25,{"$nulls":8},"-"]
["02160816100201_XZ",6304448,4,"G","AG",546,"103;132","0;0","137;174","0;0","0;0","0;0",0,0,0,1,590,"regulatory","1.AD/2.AD/3.AR/4.AD/5.AD","WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINAN... (OMIM:614296), CATARACT, NUCLEAR TOTAL (OMIM:116400), WOLFRAM SYNDROME 1 (OMIM:222300), DEAFNESS, AUTOSOMAL DOMINANT 6 (OMIM:600965)","WFS1","c.*253G>A","NM_006005.3",null,null,"Intron","rs1046322",43.04,{"$nulls":6},"A",0.08187,"A",0.08187,"CR137743","null","regulatory","DFP","Higheraggression, association with"]
["02160816100201_XZ",15603069,4,"G","CC",85,"0;0","41;44","0;0","0;0","0;0","0;0",0,0,0,0,6086,"Unknown","1.2.3.AR","JOUBERT SYNDROME 9 (OMIM:612285), MECKEL SYNDROME, TYPE 6 (OMIM:612284), COACH SYNDROME (OMIM:216360)","CC2D2A","c.*21G>C","NM_001080522.2",null,null,"Intron","rs1134634",100,{"$nulls":4},0.5669,0.4861,"G",0.4331,"C",0.5669]
["02160816100201_XZ",25674910,4,"T","GG",234,"0;0","0;0","82;136","6;9","0;0","1;0",0,0,0,1,7063,"Unknown","1.N/A/2.AR","TESTICULAR MICROLITHIASIS (OMIM:610441), PULMONARY ALVEOLAR MICROLITHIASIS (OMIM:265100)","SLC34A2","c.1216+34T>G","NM_006424.2",null,null,"Intron","rs62409434",93.16,{"$nulls":8},"G"]
["02160816100201_XZ",39478947,4,"G","AG",9,"0;2","0;0","0;7","0;0","0;0","0;0",1,1,0,0,15,"Unknown",null,"PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTH... (OMIM:614462)","LIAS","c.*212G>A","NM_006859.3",null,null,"Intron","rs540608097",22.22,{"$nulls":8},"A"]
["02160816100201_XZ",39528976,4,"C","TT",180,"0;0","0;0","0;0","112;68","0;0","0;0",0,1,0,0,636,"Unknown",null,"N/A","UGDH","c.-81G>A","NM_003359.3",null,null,"Intron","rs4453941",100,{"$nulls":8},"A"]
["02160816100201_XZ",47945455,4,"C","GG",9,"0;0","0;0","3;6","0;0","0;0","0;0",1,0,0,1,1115,"Unknown",null,"N/A","LOC101927157","c.300-26C>G","XR_241671.1",null,null,"Intron","rs6819506",100,{"$nulls":4},0.8518,0.9831,"C",0.1482,"G",0.8518]
["02160816100201_XZ",47972991,4,"G","CG",13,"0;0","5;0","0;8","0;0","0;0","0;0",0,1,0,1,0,"Unknown",null,"N/A","LOC101927157","c.-3+10419G>C","XR_241671.1",null,null,"Intron",null,38.46,"NA","NA","NA","NA",{"$nulls":4},"C",{"$nulls":6},"D",".",".","N",0.39,".","."]
["02160816100201_XZ",55162950,4,"C","AA",155,"72;77","1;1","1;1","0;0","0;0","2;0",0,0,0,0,1048,"Unknown","1.AD/2.IC,Smu","GASTROINTESTINAL STROMAL TUMOR (OMIM:606764), HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)","PDGFRA","c.*1511C>A","NM_006206.4",null,null,"Intron","rs1565664",96.13,{"$nulls":6},"C",0.002796,"A",0.9972]
["02160816100201_XZ",56236600,4,"A","-",84,"29;23","0;0","0;0","0;1","0;0","17;14",0,0,0,0,1552,"Unknown","1.AR/2.AR","CONGENITAL DISORDER OF GLYCOSYLATION, TY... (OMIM:612379), KAHRIZI SYNDROME (OMIM:612713)","SRD5A3","-","NM_024592.4",null,null,"Intron","rs148010163,rs57961190,rs770897269,rs869160722,rs886059473",36.9,{"$nulls":8},"-"]
["02160816100201_XZ",68621332,4,"C","CT",131,"0;0","35;37","0;0","28;31","0;0","0;0",0,1,0,0,720,"Unknown","1.AR","HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR ... (OMIM:146110)","GNRHR","c.-1279G>A","NM_000406.2",null,null,"Intron","rs2062301",45.04,{"$nulls":8},"A"]
["02160816100201_XZ",77676220,4,"A","AC",390,"77;200","103;6","2;0","1;0","0;0","0;1",0,1,0,0,2939,"Synonymous","N/A","N/A","SHROOM3","c.4584A>C","NM_020859.3","CDS7","p.P1528P","Exon",null,27.95,"NA","NA","NA","NA",{"$nulls":4},"C",{"$nulls":6},".",".",".","D",-0.29,".","."]
["02160816100201_XZ",78987157,4,"A","AG",117,"41;32","1;0","26;17","0;0","0;0","0;0",0,0,0,1,5499,"Nonsynonymous","1.AR","FRASER SYNDROME (OMIM:219000)","FRAS1","c.95A>G","NM_025074.6","CDS2","p.D32G","Exon","rs4859905",36.75,0.516,0.5262,0.4464,0.4962,0.5515,0.5407,"A",0.4485,"G",0.5515,{"$nulls":5},"T","B","B","P",-0.213,".","."]
["02160816100201_XZ",79366655,4,"G","CG",138,"0;0","44;25","45;24","0;0","0;0","0;0",0,0,0,0,4152,"Unknown","1.AR","FRASER SYNDROME (OMIM:219000)","FRAS1","c.5666-21G>C","NM_025074.6",null,null,"Intron","rs3749489",50,{"$nulls":4},0.2758,0.3194,"C",0.2758,"C",0.2758]
["02160816100201_XZ",79447763,4,"T","CT",179,"2;0","40;58","0;0","36;43","0;0","0;0",0,0,0,0,3166,"Nonsynonymous","1.AR","FRASER SYNDROME (OMIM:219000)","FRAS1","c.10877T>C","NM_025074.6","CDS70","p.V3626A","Exon","rs34670941",54.75,0.1566,0.2238,0.1156,0.3079,0.1454,0.2272,"C",0.1454,"C",0.1454,{"$nulls":5},"T","B","B","P",0.397,".","."]
["02160816100201_XZ",81209502,4,"C","delCC",16,"0;0","4;8","0;0","0;0","0;1","4;0",0,1,0,1,1,"Unknown",null,"TRICHOMEGALY (OMIM:190330)","FGF5","c.*1677_*1678delCC","NM_004464.3",null,null,"Intron",null,25,{"$nulls":8},"delCC"]
["02160816100201_XZ",88082944,4,"A","insA",175,"74;100","0;0","1;0","0;0","38;54","0;0",0,0,0,1,254,"Unknown",null,"N/A","KLHL8","c.*1727_*1728insT","NM_020803.3",null,null,"Intron","rs74505316",52.57,{"$nulls":8},"insT"]
["02160816100201_XZ",89179450,4,"T","CT",9,"0;0","2;0","0;0","2;5","0;0","0;0",1,1,0,0,0,"Unknown",null,"MAPLE SYRUP URINE DISEASE, MILD VARIANT (OMIM:615135)","PPM1K","c.*4297A>G","NM_152542.4",null,null,"Intron",null,22.22,{"$nulls":8},"G"]
["02160816100201_XZ",90646503,4,"G","-",27,"1;0","0;0","3;0","0;0","0;0","16;7",0,0,0,1,1823,"Unknown","N/A","PARKINSON DISEASE 4, AUTOSOMAL DOMINANT ... (OMIM:605543), DEMENTIA, LEWY BODY (OMIM:127750), PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)","SNCA","-","NM_000345.3",null,null,"Intron",null,85.19,{"$nulls":8},"-"]
["02160816100201_XZ",96079045,4,"T","CT",89,"0;0","20;14","1;0","29;25","0;0","0;0",0,0,0,0,633,"Unknown","1.AD/2.AR","BRACHYDACTYLY, TYPE A2 (OMIM:112600), CHONDRODYSPLASIA, ACROMESOMELIC, WITH GE... (OMIM:609441)","BMPR1B","c.*3221T>C","NM_001203.2",null,null,"Intron","rs2162450",38.2,{"$nulls":6},"C",0.3848,"C",0.3848]
["02160816100201_XZ",103174196,4,"C","TT",62,"0;0","0;2","1;0","23;36","0;0","0;0",0,1,0,0,720,"Unknown",null,"N/A","SLC39A8","c.*1380+8625G>A","NM_022154.5",null,null,"Intron","rs151372",95.16,{"$nulls":8},"A"]
["02160816100201_XZ",103534560,4,"C","CG",186,"0;0","57;47","53;29","0;0","0;0","0;0",0,0,0,0,4292,"Unknown","N/A","N/A","NFKB1","c.2593-22C>G","NM_003998.3",null,null,"Intron","rs3817685",44.09,{"$nulls":6},"G",0.3159,"G",0.3159]
["02160816100201_XZ",103610872,4,"A","GG",38,"0;0","0;0","14;24","0;0","0;0","0;0",0,1,0,0,7350,"Unknown",null,"MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)","MANBA","c.850-31T>C","NM_005908.3",null,null,"Intron","rs227365",100,{"$nulls":8},"C"]
["02160816100201_XZ",111398208,4,"A","GG",166,"3;0","0;0","62;101","0;0","1;0","0;0",0,0,0,0,2949,"Nonsynonymous",null,"N/A","ENPEP","c.638A>G","NM_001977.3","CDS1","p.Q213R","Exon","rs10004516",98.19,0.8636,0.8217,0.8638,0.8068,0.8476,0.7877,"A",0.1524,"G",0.8476,{"$nulls":5},"T","B","B","P",0.533,".","."]
["02160816100201_XZ",111558411,4,"G","CC",223,"0;0","117;106","0;0","0;0","0;0","0;0",0,1,0,0,1765,"Unknown","1.AD/2.AD/3.AD/AR/4.AD","PETERS ANOMALY (OMIM:604229), AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500), IRIDOGONIODYSGENESIS, TYPE 2 (OMIM:137600), RING DERMOID OF CORNEA (OMIM:180550)","PITX2","c.-485C>G","NM_153427.2",null,null,"Intron","rs2739200",100,{"$nulls":8},"G"]
["02160816100201_XZ",114286358,4,"T","delTG",56,"1;0","0;0","0;0","10;25","0;0","5;15",0,0,0,0,5440,"Unknown","1.2.AD","CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED (OMIM:600919)","ANK2","c.11032+49_11032+50delGT","NM_001148.4",null,null,"Intron","rs367606815,rs57520252,rs755471611,rs772829921,rs796698926,rs796789489,rs865979150",35.71,{"$nulls":8},"delGT"]
["02160816100201_XZ",120108781,4,"A","AT",10,"4;3","0;0","0;0","0;3","0;0","0;0",0,1,0,1,1,"Unknown","AD","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1... (OMIM:613838)","MYOZ2","c.*1426A>T","NM_016599.4",null,null,"Intron",null,30,{"$nulls":8},"T"]
["02160816100201_XZ",120240803,4,"A","insATA,delATA",32,"8;14","0;0","0;0","0;0","5;6","5;5",0,0,1,0,9,"Unknown","N/A","N/A","FABP2","c.241-5_241-4insTAT,c.241-7_241-5delTAT","NM_000134.3",null,null,"Intron","rs70944856,rs71595363","34.38,31.25",{"$nulls":8},"delTAT"]
["02160816100201_XZ",120419300,4,"T","CT",27,"0;0","3;11","0;0","7;6","0;0","0;0",0,0,0,0,11,"Unknown",null,"N/A","LOC645513","c.*456T>C","NR_037630.1",null,null,"Intron","rs78501811",51.85,{"$nulls":6},"C",0.03494,"C",0.03494]
["02160816100201_XZ",122618166,4,"A","AG",48,"3;15","0;0","9;21","0;0","0;0","0;0",0,0,0,0,262,"Unknown",null,"N/A","N/A","c.-165-19A>G",{"$nulls":3},"Intron","rs28651243",62.5,{"$nulls":6},"G",0.3065,"G",0.3065]
["02160816100201_XZ",122618192,4,"T","GT",26,"0;0","0;0","6;11","2;6","0;0","1;0",0,0,0,0,237,"Unknown",null,"N/A","N/A","c.-165-45T>G",{"$nulls":3},"Intron","rs28717001",65.38,{"$nulls":6},"G",0.3065,"G",0.3065]
["02160816100201_XZ",126402921,4,"T","GG",163,"0;0","0;0","73;90","0;0","0;0","0;0",0,0,0,0,6480,"Unknown","1.AR/2.AR","HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYN... (OMIM:616006), VAN MALDERGEM SYNDROME 2 (OMIM:615546)","FAT4","c.12816+28T>G","NM_024582.4",null,null,"Intron","rs11098815",100,{"$nulls":4},0.3844,0.5903,"G",0.3844,"G",0.3844]
["02160816100201_XZ",140431398,4,"C","-",229,"0;0","0;0","0;0","0;0","0;0","105;124",0,0,0,0,671,"Unknown",null,"N/A","SETD7","-","NM_030648.2",null,null,"Intron",null,100,{"$nulls":8},"-"]
["02160816100201_XZ",148464978,4,"A","insA",96,"50;45","0;0","0;0","0;0","47;42","1;0",0,0,0,0,955,"Unknown","1.AD/2.AD-易感","MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)","EDNRA","c.*1208_*1209insA","NM_001957.3",null,null,"Intron","rs10305936",92.71,{"$nulls":8},"insA"]
["02160816100201_XZ",156651539,4,"T","-",54,"0;1","0;0","1;0","14;13","1;0","14;11",0,0,0,0,1013,"Unknown",null,"MOYAMOYA DISEASE 6 WITH ACHALASIA (OMIM:615750)","GUCY1A3","-","NM_000856.5",null,null,"Intron",null,46.3,{"$nulls":8},"-"]
["02160816100201_XZ",156652714,4,"G","AA",28,"12;13","0;0","2;0","1;0","0;0","0;0",0,0,0,0,1439,"Unknown",null,"MOYAMOYA DISEASE 6 WITH ACHALASIA (OMIM:615750)","GUCY1A3","c.*1331G>A","NM_000856.5",null,null,"Intron","rs1380507",89.29,{"$nulls":6},"G",0.006589,"A",0.9934]
["02160816100201_XZ",158043559,4,"C","CT",39,"0;0","14;16","0;0","4;5","0;0","0;0",0,0,0,0,5114,"Unknown","1.AR","HYPEREKPLEXIA 2 (OMIM:614619)","GLRB","c.297+10C>T","NM_000824.4",null,null,"Intron","rs41280501",23.08,{"$nulls":6},"T",0.4912,"T",0.4912]
["02160816100201_XZ",167024715,4,"A","GG",59,"1;0","0;0","25;33","0;0","0;0","0;0",0,0,0,0,701,"Unknown","AD","ATRIAL SEPTAL DEFECT 6 (OMIM:613087)","TLL1","c.*2687A>G","NM_012464.4",null,null,"Intron","rs1497949",98.31,{"$nulls":6},"G",0.4696,"G",0.4696]
["02160816100201_XZ",169846361,4,"T","-",24,"0;0","0;0","1;0","0;3","0;0","11;9",0,0,0,0,6942,"Unknown","N/A","N/A","PALLD","-","NM_001166108.1",null,null,"Intron",null,83.33,{"$nulls":8},"-"]
["02160816100201_XZ",170502094,4,"T","GT",5,"0;0","0;0","2;0","2;1","0;0","0;0",1,1,0,1,7,"Unknown","AR","SHORT-RIB THORACIC DYSPLASIA 6 WITH OR W... (OMIM:263520)","NEK1","c.808-41A>C","NM_012224.2",null,null,"Intron",null,40,{"$nulls":8},"C"]
["02160816100201_XZ",170641679,4,"C","-",66,"1;0","22;14","0;0","0;0","0;0","19;10",0,0,0,0,655,"Unknown",null,"N/A","CLCN3","-","NM_173872.3",null,null,"Intron",null,43.94,{"$nulls":8},"-"]
["02160816100201_XZ",175443156,4,"C","CT",250,"0;0","59;60","0;0","69;62","0;0","0;0",0,1,0,0,5043,"Synonymous","AR/AD","CLUBBING OF DIGITS (OMIM:119900), HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, ... (OMIM:259100)","HPGD","c.156G>A","NM_000860.5","CDS2","p.Q52Q","Exon","rs1050145",52.4,{"$nulls":8},"A"]
["02160816100201_XZ",186069135,4,"A","delA",37,"20;9","0;0","0;0","0;0","4;0","6;2",0,0,0,1,253,"Unknown","1.AR/2.AD","MITOCHONDRIAL DNA DEPLETION SYNDROME 12 ... (OMIM:615418), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WIT... (OMIM:609283)","SLC25A4","c.*1023delA","NM_001151.3",null,null,"Intron","rs374044101,rs750786134,rs886059271",21.62,{"$nulls":8},"delA"]
["02160816100201_XZ",187530313,4,"C","TT",196,"0;0","0;0","0;0","103;93","0;0","0;0",0,1,0,0,3079,"Unknown",null,"N/A","FAT1","c.10206+24G>A","NM_005245.3",null,null,"Intron","rs4862722",100,{"$nulls":8},"A"]
["02160816100201_XZ",187644956,4,"C","insCCCGCGCCCTCTC",11,"1;0","3;7","0;0","0;0","0;6","0;0",0,1,0,0,27,"Unknown",null,"N/A","FAT1","c.-157_-156insGAGAGGGCGCGGG","NM_005245.3",null,null,"Intron","rs376490766",54.55,{"$nulls":8},"insGAGAGGGCGCGGG"]
["02160816100201_XZ",251541,5,"A","AG",72,"20;23","0;0","13;16","0;0","0;0","0;0",0,0,0,1,561,"Synonymous","1.AR/2.AR/3.AR/4.AD","MITOCHONDRIAL COMPLEX II DEFICIENCY (OMIM:252011), PARAGANGLIOMAS 5 (OMIM:614165), CARDIOMYOPATHY, DILATED, 1GG (OMIM:613642), LEIGH SYNDROME (OMIM:256000)","SDHA","c.1752A>G","NM_004168.2","CDS13","p.A584A","Exon","rs13070",40.28,{"$nulls":4},0.2484,0.0585,"G",0.2484,"G",0.2484]
["02160816100201_XZ",257174,5,"G","AG",15,"4;4","0;0","4;3","0;0","0;0","0;0",0,0,0,1,213,"Unknown",null,"N/A","N/A","c.*280+359G>A",{"$nulls":3},"Intron","rs112343653",53.33,{"$nulls":6},"A",0.2482,"A",0.2482]
["02160816100201_XZ",474892,5,"A","-",40,"15;5","0;1","0;0","0;0","0;0","12;7",0,0,0,0,827,"Unknown",null,"N/A","SLC9A3","-","NM_004174.2",null,null,"Intron",null,47.5,{"$nulls":8},"-"]
["02160816100201_XZ",474908,5,"G","-",44,"0;0","0;0","15;10","0;0","0;0","12;7",0,0,0,0,1643,"Unknown",null,"N/A","SLC9A3","-","NM_004174.2",null,null,"Intron",null,43.18,{"$nulls":8},"-"]
["02160816100201_XZ",474923,5,"C","-",51,"0;0","18;13","1;0","0;0","0;0","12;7",0,0,0,0,1320,"Unknown",null,"N/A","SLC9A3","-","NM_004174.2",null,null,"Intron",null,37.25,{"$nulls":8},"-"]
["02160816100201_XZ",474939,5,"A","-",62,"25;16","0;0","0;0","0;0","0;0","12;9",0,0,0,0,1307,"Unknown",null,"N/A","SLC9A3","-","NM_004174.2",null,null,"Intron",null,33.87,{"$nulls":8},"-"]
["02160816100201_XZ",474946,5,"G","-",70,"0;0","0;0","32;19","0;0","0;0","12;7",0,0,0,0,1326,"Unknown",null,"N/A","SLC9A3","-","NM_004174.2",null,null,"Intron",null,27.14,{"$nulls":8},"-"]
["02160816100201_XZ",1063998,5,"G","AG",104,"41;11","0;0","41;11","0;0","0;0","0;0",0,1,0,0,1531,"Synonymous",null,"N/A","SLC12A7","c.2700C>T","NM_006598.2","CDS20","p.Y900Y","Exon","rs7722287",50,0.3182,0.3147,0.4166,0.3203,{"$nulls":4},"T",{"$nulls":6},".",".",".","P",0.305,".","."]
["02160816100201_XZ",1814398,5,"T","-",166,"1;0","0;0","0;0","51;40","0;0","40;34",0,0,0,0,4443,"Unknown","AR","MITOCHONDRIAL COMPLEX I DEFICIENCY (OMIM:252010)","NDUFS6","-","NM_004553.4",null,null,"Intron","rs36074605,rs529722791,rs866825772",44.58,{"$nulls":8},"-"]
["02160816100201_XZ",13769257,5,"T","AT",136,"33;53","0;0","1;0","13;36","0;0","0;0",0,0,0,0,3669,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)","DNAH5","c.9721-12A>T","NM_001369.2",null,null,"Intron","rs12655133",63.24,{"$nulls":8},"T"]
["02160816100201_XZ",13862616,5,"C","TT",49,"0;0","0;2","0;0","26;21","0;0","0;0",0,1,0,0,2465,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)","DNAH5","c.4796+41G>A","NM_001369.2",null,null,"Intron","rs7704417",95.92,{"$nulls":8},"A"]
["02160816100201_XZ",13931340,5,"C","CT",134,"0;0","10;38","0;0","23;63","0;0","0;0",0,1,0,0,6439,"Nonsynonymous","AR","CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)","DNAH5","c.71G>A","NM_001369.2","CDS2","p.G24E","Exon","rs1530496",64.18,0.484,0.6801,0.3691,0.7055,{"$nulls":4},"A",{"$nulls":6},"T","B","B","P",-0.269,".","."]
["02160816100201_XZ",23507777,5,"T","CC",369,"0;0","177;185","0;0","2;5","0;0","0;0",0,0,0,0,1476,"Unknown","N/A","N/A","PRDM9","c.-129T>C","NM_020227.2",null,null,"Intron","rs2914282",98.1,{"$nulls":6},"T",0.06589,"C",0.9341]
["02160816100201_XZ",37341352,5,"T","CC",162,"1;1","59;97","0;0","1;0","0;0","3;0",0,1,0,0,3543,"Unknown","AR","ATRIAL FIBRILLATION, FAMILIAL, 15 (OMIM:615770)","NUP155","c.1094-8A>G","NM_153485.2",null,null,"Intron","rs13172306",96.3,{"$nulls":8},"G"]
["02160816100201_XZ",38482707,5,"T","CT",9,"0;0","0;2","0;0","3;4","0;0","0;0",1,1,0,0,1,"Nonsynonymous",null,"STUVE-WIEDEMANN SYNDROME (OMIM:601559)","LIFR","c.2654A>G","NM_002310.5","CDS18","p.Q885R","Exon",null,22.22,"NA","NA","NA","NA",{"$nulls":4},"G",{"$nulls":6},"T","P","B","D",0.533,".","."]
["02160816100201_XZ",42719952,5,"G","-",7,"0;0","0;0","5;0","0;0","0;0","2;0",1,1,0,1,4,"Unknown","略","SHORT STATURE, IDIOPATHIC, AUTOSOMAL (OMIM:604271), GROWTH HORMONE INSENSITIVITY SYNDROME (OMIM:262500)","GHR","-","NM_000163.4",null,null,"Intron",null,28.57,{"$nulls":8},"-"]
["02160816100201_XZ",43619122,5,"T","GT",24,"0;0","0;0","0;5","10;9","0;0","0;0",0,1,0,0,54,"Unknown","AR","GLUCOCORTICOID DEFICIENCY 4 (OMIM:614736)","NNT","c.600-12T>G","NM_012343.3",null,null,"Intron",null,20.83,{"$nulls":8},"G"]
["02160816100201_XZ",45256475,5,"A","delA",22,"6;4","0;0","0;0","0;2","0;0","9;1",0,1,0,1,755,"Unknown","AD","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615871)","HCN1","c.*5548delT","NM_021072.3",null,null,"Intron","rs34921695",45.45,{"$nulls":8},"delT"]
["02160816100201_XZ",45259654,5,"T","GT",11,"0;0","0;0","3;0","1;7","0;0","0;0",0,1,0,0,1,"Unknown","AD","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:615871)","HCN1","c.*2369A>C","NM_021072.3",null,null,"Intron",null,27.27,{"$nulls":8},"C"]
["02160816100201_XZ",50690312,5,"T","GT",9,"0;0","0;0","2;0","4;3","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","ISL1","c.*868T>G","NM_002202.2",null,null,"Intron",null,22.22,{"$nulls":8},"G"]
["02160816100201_XZ",52351413,5,"G","AG",160,"50;38","0;0","39;33","0;0","0;0","0;0",0,0,0,0,3897,"Synonymous",null,"BLEEDING DISORDER, PLATELET-TYPE, 9 (OMIM:614200)","ITGA2","c.825G>A","NM_002203.3","CDS8","p.T275T","Exon","rs1062535",55,{"$nulls":8},"A",null,"CM993454","NM_002203.3:c.825G-A","missense/nonsense","DP","Myocardialinfarction, association with"]
["02160816100201_XZ",52388936,5,"A","-",36,"16;4","0;0","0;0","0;0","0;0","12;4",0,0,0,0,360,"Unknown",null,"BLEEDING DISORDER, PLATELET-TYPE, 9 (OMIM:614200)","ITGA2","-","NM_002203.3",null,null,"Intron",null,44.44,{"$nulls":8},"-"]
["02160816100201_XZ",53606295,5,"T","CT",184,"0;0","48;31","0;0","53;52","0;0","0;0",0,1,0,0,2759,"Synonymous",null,"N/A","ARL15","c.15A>G","NM_019087.2","CDS1","p.R5R","Exon","rs35941",42.93,{"$nulls":8},"G"]
["02160816100201_XZ",56177851,5,"A","-",214,"17;18","0;0","0;0","3;2","2;0","89;85",0,0,0,0,5916,"In-frame",null,"46,XY SEX REVERSAL 6 (OMIM:613762)","MAP3K1","-","NM_005921.1","CDS14",null,"Exon",null,81.31,{"$nulls":8},"-"]
["02160816100201_XZ",56190986,5,"A","AG",18,"3;3","0;0","4;8","0;0","0;0","0;0",0,0,0,0,249,"Unknown",null,"46,XY SEX REVERSAL 6 (OMIM:613762)","MAP3K1","c.*1479A>G","NM_005921.1",null,null,"Intron","rs702688",66.67,{"$nulls":6},"G",0.4209,"G",0.4209]
["02160816100201_XZ",56191841,5,"T","GT",6,"0;0","0;0","0;2","1;3","0;0","0;0",1,1,0,1,0,"Unknown",null,"46,XY SEX REVERSAL 6 (OMIM:613762)","MAP3K1","c.*2334T>G","NM_005921.1",null,null,"Intron",null,33.33,{"$nulls":8},"G"]
["02160816100201_XZ",60448904,5,"G","insAA",30,"0;1","0;0","13;16","0;0","10;16","0;0",0,0,0,0,2669,"Unknown",null,"N/A","N/A","c.*82+39_*82+40insAA",{"$nulls":3},"Intron","rs33927273",86.67,{"$nulls":8},"insAA"]
["02160816100201_XZ",68853031,5,"T","GG",2,"0;0","0;0","2;0","0;0","0;0","0;0",1,1,0,1,27,"Unknown","AR","BAND-LIKE CALCIFICATION WITH SIMPLIFIED ... (OMIM:251290)","OCLN","c.*3533T>G","NM_002538.3",null,null,"Intron",null,100,{"$nulls":8},"G"]
["02160816100201_XZ",73992609,5,"G","AA",17,"6;11","0;0","0;0","0;0","0;0","0;0",0,0,0,0,7727,"Unknown","AR","SANDHOFF DISEASE (OMIM:268800)","HEXB","c.558+45G>A","NM_000521.3",null,null,"Intron","rs1665894",100,{"$nulls":4},0.8534,0.8552,"G",0.1466,"A",0.8534]
["02160816100201_XZ",74656539,5,"T","CC",84,"0;0","43;39","0;0","2;0","1;0","0;0",0,0,0,0,1084,"Unknown","N/A","N/A","HMGCR","c.*372T>C","NM_000859.2",null,null,"Intron","rs12916",97.62,{"$nulls":6},"C",0.4161,"C",0.4161]
["02160816100201_XZ",74656568,5,"T","-",80,"0;0","0;0","0;0","16;16","0;0","24;24",0,0,0,0,360,"Unknown","N/A","N/A","HMGCR","-","NM_000859.2",null,null,"Intron",null,60,{"$nulls":8},"-"]
["02160816100201_XZ",78073022,5,"T","delT",9,"0;0","0;0","0;0","2;5","0;0","2;0",1,1,0,1,1,"Unknown",null,"N/A","N/A","c.*3188+10delT",{"$nulls":3},"Intron",null,22.22,{"$nulls":8},"delT"]
["02160816100201_XZ",79028472,5,"C","TT",183,"0;0","0;0","0;0","87;96","0;0","0;0",0,0,0,0,2710,"Nonsynonymous",null,"N/A","CMYA5","c.3884C>T","NM_153610.3","CDS2","p.A1295V","Exon","rs4704585",100,0.5641,0.6748,0.4406,0.6542,0.5553,0.6448,"C",0.4447,"T",0.5553,{"$nulls":5},"T","B","B","P",-1.126,".","."]
["02160816100201_XZ",79354184,5,"A","AG",116,"21;46","0;0","15;33","0;1","0;0","0;0",0,0,0,1,2999,"Unknown","N/A","N/A","THBS4","c.649+47A>G","NM_003248.4",null,null,"Intron","rs2241826",41.38,{"$nulls":4},0.2877,0.3056,"G",0.2877,"G",0.2877]
["02160816100201_XZ",82877138,5,"A","-",8,"2;3","0;1","0;0","0;0","0;0","1;1",1,0,0,0,1186,"Unknown","1.AD","WAGNER VITREORETINOPATHY (OMIM:143200)","VCAN","-","NM_004385.4",null,null,"Intron",null,25,{"$nulls":8},"-"]
["02160816100201_XZ",86628501,5,"T","-",12,"0;0","0;0","1;0","3;5","0;0","3;0",0,1,0,1,0,"Unknown",null,"ANGIOOSTEOHYPERTROPHIC SYNDROME (OMIM:608355), CAPILLARY MALFORMATION-ARTERIOVENOUS MAL... (OMIM:608354), BASAL CELL CARCINOMA, SUSCEPTIBILITY TO,... (OMIM:605462)","RASA1","-","NM_002890.2",null,null,"Intron",null,25,{"$nulls":8},"-"]
["02160816100201_XZ",112176325,5,"G","AA",236,"96;138","1;0","1;0","0;0","0;0","0;0",0,0,0,0,7379,"Synonymous","N/A","HEPATOCELLULAR CARCINOMA (OMIM:114550), GASTRIC CANCERGASTRIC CANCER, INTESTINAL... (OMIM:613659), FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100), COLORECTAL CANCER (OMIM:114500), DESMOID DISEASE, HEREDITARY (OMIM:135290)","APC","c.5034G>A","NM_000038.5","CDS15","p.G1678G","Exon","rs42427",99.15,{"$nulls":4},0.6667,0.8165,"G",0.3333,"A",0.6667]
["02160816100201_XZ",122680581,5,"A","insA",73,"41;32","0;0","0;0","0;0","40;30","0;0",0,0,0,0,1096,"Unknown","N/A","SHORT-RIB THORACIC DYSPLASIA 13 WITH OR ... (OMIM:616300)","CEP120","c.*1632_*1633insT","NM_153223.3",null,null,"Intron","rs11436160,rs397804464",95.89,{"$nulls":8},"insT"]
["02160816100201_XZ",126112580,5,"T","CT",92,"0;0","15;17","0;0","22;38","0;0","0;0",0,0,0,0,959,"Unknown","N/A","LEUKODYSTROPHY, DEMYELINATING, ADULT-ONS... (OMIM:169500)","LMNB1","c.-621T>C","NM_005573.3",null,null,"Intron","rs35091677",34.78,{"$nulls":6},"C",0.2324,"C",0.2324]
["02160816100201_XZ",127512770,5,"T","CT",14,"0;0","0;3","0;0","6;5","0;0","0;0",0,1,0,1,0,"Unknown",null,"N/A","SLC12A2","c.2930-27T>C","NM_001046.2",null,null,"Intron",null,21.43,{"$nulls":8},"C"]
["02160816100201_XZ",127524199,5,"A","AC",5,"1;2","0;2","0;0","0;0","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","SLC12A2","c.*1876A>C","NM_001046.2",null,null,"Intron",null,40,{"$nulls":8},"C"]
["02160816100201_XZ",127685135,5,"C","TT",233,"0;0","7;0","0;0","107;119","0;0","0;0",0,1,0,0,7795,"Nonsynonymous","1.AD/2.AD/","MACULAR DEGENERATION, EARLY-ONSET (OMIM:616118), ARTHROGRYPOSIS, DISTAL, TYPE 9 (OMIM:121050)","FBN2","c.2893G>A","NM_001999.3","CDS23","p.V965I","Exon","rs154001",97,0.7303,0.9213,0.723,0.9366,{"$nulls":4},"A",null,"CM1413000","NM_001999.3:c.2893A-G","missense/nonsense","DP","Maculardegeneration, age related, association with","T","B","B","P",0.655,"Benign|Benign","not_specified|not_provided"]
["02160816100201_XZ",131705458,5,"C","GG",55,"0;0","0;1","35;19","0;0","0;0","0;0",0,1,0,1,89,"Unknown","N/A","N/A","LOC553103","c.-207G>C","NR_037898.1",null,null,"Intron","rs2631367",98.18,{"$nulls":8},"C"]
["02160816100201_XZ",131730923,5,"A","AC",100,"26;22","17;34","0;0","1;0","0;0","0;0",0,0,0,0,1419,"Unknown","AR","CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)","SLC22A5","c.*959A>C","NM_003060.3",null,null,"Intron","rs14701",51,{"$nulls":8},"C"]
["02160816100201_XZ",132215807,5,"C","CT",51,"0;0","13;12","0;0","15;11","0;0","0;0",0,1,0,0,651,"Unknown",null,"CHOPS SYNDROME (OMIM:616368)","AFF4","c.*944G>A","NM_014423.3",null,null,"Intron","rs803219",50.98,{"$nulls":8},"A"]
["02160816100201_XZ",133316394,5,"A","AC",22,"3;9","10;0","0;0","0;0","0;0","0;0",0,1,0,0,2785,"Unknown",null,"N/A","VDAC1","c.551+26T>G","NM_003374.2",null,null,"Intron","rs750770587",45.45,{"$nulls":8},"G"]
["02160816100201_XZ",136953577,5,"T","CT",211,"0;0","32;54","0;0","64;61","0;0","0;0",0,1,0,0,1378,"Unknown",null,"PSEUDOHYPOALDOSTERONISM, TYPE IID (OMIM:614495)","KLHL3","c.*4210A>G","NM_017415.2",null,null,"Intron","rs6863414",40.76,{"$nulls":8},"G"]
["02160816100201_XZ",138609609,5,"C","CG",192,"0;0","30;56","43;63","0;0","0;0","0;0",0,0,0,0,1615,"Unknown",null,"AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)","MATR3","c.-610C>G","NM_199189.2",null,null,"Intron","rs11242456",55.21,{"$nulls":4},0.4203,0.2004,"G",0.4203,"G",0.4203]
["02160816100201_XZ",140554006,5,"C","GG",31,"0;0","0;2","10;19","0;0","0;0","0;0",0,0,0,0,2550,"Synonymous",null,"N/A","PCDHB7","c.1590C>G","NM_018940.2","CDS1","p.R530R","Exon","rs2907329",93.55,{"$nulls":6},"C",0.3684,"G",0.6316]
["02160816100201_XZ",141973349,5,"C","GG",53,"0;0","1;0","29;22","1;0","0;0","0;0",0,1,0,1,595,"Unknown","N/A","N/A","FGF1","c.*1506G>C","NM_001144935.1",null,null,"Intron","rs33999",96.23,{"$nulls":8},"C"]
["02160816100201_XZ",147204192,5,"G","AG",84,"18;14","0;0","27;25","0;0","0;0","0;0",0,1,0,1,1265,"Unknown","1.AD/2.AD/AR/3.AR/AD","TROPICAL CALCIFIC PANCREATITIS (OMIM:608189), PANCREATITIS, HEREDITARY (OMIM:167800)","SPINK1","c.*32C>T","NM_003122.3",null,null,"Intron","rs11319",38.1,{"$nulls":8},"T"]
["02160816100201_XZ",147516915,5,"C","insCTC",105,"1;0","47;57","0;0","0;0","41;53","0;0",0,0,0,1,2036,"Unknown","AR","IGE RESPONSIVENESS, ATOPIC (OMIM:147050), NETHERTON SYNDROME (OMIM:256500)","SPINK5","c.*363_*364insCTC","NM_006846.3",null,null,"Intron","rs397704765,rs72543452",89.52,{"$nulls":8},"insCTC"]
["02160816100201_XZ",149238122,5,"G","AA",19,"1;18","0;0","0;0","0;0","0;0","0;0",0,1,0,0,1242,"Unknown","N/A","RETINITIS PIGMENTOSA 43 (OMIM:613810)","PDE6A","c.*2336C>T","NM_000440.2",null,null,"Intron","rs30885",100,{"$nulls":8},"T"]
["02160816100201_XZ",149365785,5,"C","CG",9,"0;0","1;5","3;0","0;0","0;0","0;0",1,1,0,0,1,"Unknown","1.AR/2.AR/3.AR/4.AR/5.AR","ACHONDROGENESIS, TYPE IB (OMIM:600972), EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900), DIASTROPHIC DYSPLASIA (OMIM:222600), ATELOSTEOGENESIS, TYPE II (OMIM:256050)","SLC26A2","c.*4409C>G","NM_000112.3",null,null,"Intron","rs944693133",33.33,{"$nulls":8},"G"]
["02160816100201_XZ",156016201,5,"T","AT",50,"20;5","0;1","0;0","15;9","0;0","0;0",0,0,0,0,2307,"Unknown","N/A","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F (OMIM:601287), CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)","SGCD","c.295-40T>A","NM_000337.5",null,null,"Intron","rs74571343",50,{"$nulls":4},0.0509,0.1815,"A",0.05092,"A",0.05092]
["02160816100201_XZ",169816329,5,"A","AC",220,"41;115","60;3","0;0","0;0","0;0","0;1",0,1,0,0,83,"Unknown",null,"N/A","KCNIP1","c.-537-114711A>C","NM_001278339.1",null,null,"Intron","rs572450133",28.64,{"$nulls":6},"C",0.002796,"C",0.002796]
["02160816100201_XZ",171764120,5,"T","CT",237,"0;0","65;66","0;0","59;47","0;0","0;0",0,1,0,0,1558,"Unknown","AR","FRANK-TER HAAR SYNDROME (OMIM:249420)","SH3PXD2B","c.*1253A>G","NM_001017995.2",null,null,"Intron","rs869367",55.27,{"$nulls":8},"G"]
["02160816100201_XZ",174868840,5,"T","CC",284,"1;0","137;138","3;0","0;3","0;0","1;1",0,1,0,1,7040,"Synonymous","N/A","N/A","DRD1","c.1263A>G","NM_000794.3","CDS1","p.S421S","Exon","rs155417",96.83,{"$nulls":8},"G",null,"CM931409","NM_000794.3:c.1263G-A","missense/nonsense","DFP","Schizophrenia,association with"]
["02160816100201_XZ",178539382,5,"G","GT",306,"0;0","0;0","101;79","72;54","0;0","0;0",0,1,0,1,719,"Unknown",null,"EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSO... (OMIM:225410)","ADAMTS2","c.*1486C>A","NM_014244.4",null,null,"Intron","rs1863918",41.18,{"$nulls":8},"A"]
["02160816100201_XZ",178578065,5,"T","AA",2,"2;0","0;0","0;0","0;0","0;0","0;0",1,1,0,1,1,"Unknown",null,"EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSO... (OMIM:225410)","ADAMTS2","c.1629+1078A>T","NM_014244.4",null,null,"Intron",null,100,{"$nulls":8},"T"]
["02160816100201_XZ",180028717,5,"T","CC",210,"0;0","100;110","0;0","0;0","0;0","0;0",0,1,0,1,2156,"Unknown","1.AD/2.AD","LYMPHEDEMA, HEREDITARY, IA (OMIM:153100), HEMANGIOMA, CAPILLARY INFANTILE (OMIM:602089)","FLT4","c.*528+6036A>G","NM_002020.4",null,null,"Intron","rs307822",100,{"$nulls":8},"G"]
["02160816100201_XZ",1611803,6,"G","insGGC",5,"0;0","0;0","3;2","0;0","3;0","0;0",1,1,0,0,3196,"In-frame","略","AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482), IRIDOGONIODYSGENESIS, TYPE 1 (OMIM:601631)","FOXC1","c.1141_1142insGCG","NM_001453.2","CDS1","p.G380_A381insG","Exon","rs545470261,rs76840944,rs796065323",60,{"$nulls":8},"insGCG"]
["02160816100201_XZ",7563983,6,"T","GG",111,"0;0","0;0","66;45","0;0","0;0","0;0",0,0,0,0,7473,"Synonymous","1.AD/2.AR/3.AD/4.AR/5.AD/6.AR","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLAS... (OMIM:607450), CARDIOMYOPATHY, DILATED, WITH WOOLLY HAI... (OMIM:615821), EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYT... (OMIM:609638), KERATOSIS PALMOPLANTARIS STRIATA II (OMIM:612908), CARDIOMYOPATHY, DILATED, WITH WOOLLY HAI... (OMIM:605676), SKIN FRAGILITY-WOOLLY HAIR SYNDROME (OMIM:607655)","DSP","c.741T>G","NM_004415.2","CDS6","p.A247A","Exon","rs2806234",100,{"$nulls":6},"T",0,"G",1]
["02160816100201_XZ",7565645,6,"G","delG",299,"0;1","0;0","98;49","0;0","0;0","95;56",0,0,0,0,1,"FS","1.AD/2.AR/3.AD/4.AR/5.AD/6.AR","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLAS... (OMIM:607450), CARDIOMYOPATHY, DILATED, WITH WOOLLY HAI... (OMIM:615821), EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYT... (OMIM:609638), KERATOSIS PALMOPLANTARIS STRIATA II (OMIM:612908), CARDIOMYOPATHY, DILATED, WITH WOOLLY HAI... (OMIM:605676), SKIN FRAGILITY-WOOLLY HAIR SYNDROME (OMIM:607655)","DSP","c.832delG","NM_004415.2","CDS7","p.A278Pfs","Exon",null,50.5,{"$nulls":8},"delG"]
["02160816100201_XZ",11770335,6,"A","delA",90,"22;26","3;0","0;0","0;0","0;0","13;26",0,0,0,1,2215,"Unknown","N/A","N/A","ADTRP","c.154-18delT","NM_001143948.1",null,null,"Intron","rs148298172",43.33,{"$nulls":8},"delT"]
["02160816100201_XZ",15615637,6,"G","AG",65,"15;13","0;0","13;24","0;0","0;0","0;0",0,1,0,0,3316,"Unknown","1.AR/2.易感","HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)","DTNBP1","c.356-7C>T","NM_032122.4",null,null,"Intron","rs3829893",43.08,{"$nulls":8},"T"]
["02160816100201_XZ",21597759,6,"T","-",13,"0;0","0;0","0;0","3;1","0;0","2;7",0,0,0,0,490,"Unknown",null,"N/A","SOX4","-","NM_003107.2",null,null,"Intron",null,69.23,{"$nulls":8},"-"]
["02160816100201_XZ",21597914,6,"A","AC",7,"3;2","0;2","0;0","0;0","0;0","0;0",1,1,0,0,1,"Unknown",null,"N/A","SOX4","c.*1724A>C","NM_003107.2",null,null,"Intron",null,28.57,{"$nulls":8},"C"]
["02160816100201_XZ",31084079,6,"T","CT",7,"0;0","4;0","0;0","2;1","0;0","0;0",1,1,0,1,182,"Nonsynonymous","1.2.AD","PEELING SKIN SYNDROME 1 (OMIM:270300), HYPOTRICHOSIS SIMPLEX OF SCALP (OMIM:146520)","CDSN","c.1313A>G","NM_001264.4","CDS2","p.Q438R","Exon",null,57.14,"NA","NA","NA","NA",{"$nulls":4},"G",{"$nulls":6},"T","P","B","D",0.386,".","."]
["02160816100201_XZ",31134099,6,"G","CC",2,"0;0","2;0","0;0","0;0","0;0","0;0",1,1,0,1,0,"Unknown",null,"N/A","TCF19","c.*1498+2107G>C","NM_007109.2",null,null,"Intron",null,100,"NA","NA","NA","NA",{"$nulls":4},"C",{"$nulls":6},"D",".",".","N",0.064,".","."]
["02160816100201_XZ",31959652,6,"C","CT",552,"0;0","173;226","1;0","55;97","0;0","0;0",0,0,0,1,656,"Synonymous","1.AR/2.NA","COMPLEMENT COMPONENT 4A DEFICIENCY (OMIM:614380)","C4A","c.1485C>T","NM_007293.2","CDS12","p.A495A","Exon",null,27.54,{"$nulls":8},"T"]
["02160816100201_XZ",31977493,6,"C","CT",458,"0;0","107;56","0;1","187;105","0;0","2;0",0,1,0,0,1700,"Unknown",null,"N/A","TNXA","c.-51-5079G>A","NR_001284.2",null,null,"Intron","rs79770049",63.76,{"$nulls":8},"A"]
["02160816100201_XZ",32021358,6,"G","AG",324,"104;69","0;0","79;72","0;0","0;0","0;0",0,1,0,0,429,"Synonymous","AR、AD","VESICOURETERAL REFLUX 8 (OMIM:615963), EHLERS-DANLOS-LIKE SYNDROME DUE TO TENAS... (OMIM:606408)","TNXB","c.8592C>T","NM_019105.6","CDS24","p.V2864V","Exon","rs141752970",53.4,{"$nulls":8},"T"]
["02160816100201_XZ",32035469,6,"G","AG",192,"58;41","0;0","51;41","0;1","0;0","0;0",0,1,0,1,340,"Synonymous","AR、AD","VESICOURETERAL REFLUX 8 (OMIM:615963), EHLERS-DANLOS-LIKE SYNDROME DUE TO TENAS... (OMIM:606408)","TNXB","c.6513C>T","NM_019105.6","CDS17","p.R2171R","Exon","rs117336748",51.56,{"$nulls":8},"T"]
["02160816100201_XZ",32362745,6,"G","AG",213,"52;55","0;0","50;56","0;0","0;0","0;0",0,1,0,0,1723,"Nonsynonymous","N/A","N/A","BTNL2","c.1136C>T","NM_019602.1","CDS6","p.P379L","Exon","rs28362678",50.23,0.1589,0.1836,0.1546,0.1411,{"$nulls":4},"T",null,"CM133488","NM_001304561.1:c.1136C-T","missense/nonsense","DP","Rheumatoidarthritis, susceptibility, association","T","B","B","P",-1.757,".","."]
["02160816100201_XZ",33664730,6,"T","CC",414,"0;1","228;185","0;0","0;0","0;0","0;0",0,1,0,1,135,"Unknown",null,"N/A","MNF1","c.*700A>G","NM_032340.3",null,null,"Intron","rs754404",99.76,{"$nulls":8},"G"]
["02160816100201_XZ",35395010,6,"C","TT",311,"0;0","0;0","1;0","156;154","0;0","0;0",0,0,0,0,1196,"Unknown","N/A","N/A","PPARD","c.*1154C>T","NM_001171818.1",null,null,"Intron","rs3734254",99.68,{"$nulls":6},"C",0.3067,"T",0.6933]
["02160816100201_XZ",39284184,6,"A","GG",158,"1;0","0;0","82;75","0;0","0;0","0;0",0,1,0,0,2169,"Unknown",null,"N/A","KCNK16","c.661+374T>C","NM_001135105.1",null,null,"Intron","rs3734618",99.37,{"$nulls":8},"C"]
["02160816100201_XZ",43753051,6,"C","CT",412,"0;0","106;98","0;0","106;102","0;0","0;0",0,0,0,0,468,"Unknown",null,"N/A","VEGFA","c.*752C>T","NM_001025366.2",null,null,"Intron","rs3025040",50.49,{"$nulls":6},"T",0.1512,"T",0.1512]
["02160816100201_XZ",43753882,6,"A","-",7,"2;3","0;0","0;0","0;0","0;0","1;1",1,0,0,1,22,"Unknown",null,"N/A","VEGFA","-","NM_001025366.2",null,null,"Intron",null,28.57,{"$nulls":8},"-"]
["02160816100201_XZ",44269023,6,"T","CC",272,"0;0","131;138","0;0","1;1","0;0","1;0",0,1,0,0,8000,"Unknown",null,"COMBINED OXIDATIVE PHOSPHORYLATION DEFIC... (OMIM:614096), LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH O... (OMIM:615889)","AARS2","c.2683-20A>G","NM_020745.3",null,null,"Intron","rs325007",98.9,{"$nulls":8},"G"]
["02160816100201_XZ",45888022,6,"A","AT",120,"25;55","0;0","1;0","15;24","0;0","0;0",0,0,0,0,880,"Unknown",null,"DEAFNESS, AUTOSOMAL RECESSIVE 103 (OMIM:616042)","CLIC5","c.884-5876T>A","NM_001114086.1",null,null,"Intron","rs3822881",32.5,{"$nulls":8},"A"]
["02160816100201_XZ",46672219,6,"A","AT",27,"4;3","0;1","0;0","9;4","0;0","2;4",0,0,1,0,895,"Unknown","N/A","PLATELET-ACTIVATING FACTOR ACETYLHYDROLA... (OMIM:614278)","PLA2G7","c.*78T>A","NM_005084.3",null,null,"Intron","rs3997234","22.22,48.15",{"$nulls":8},"A"]
["02160816100201_XZ",47577064,6,"G","AG",95,"16;25","0;0","24;30","0;0","0;0","0;0",0,0,0,0,3347,"Unknown","NA","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SU... (OMIM:607832)","CD2AP","c.1814+24G>A","NM_012120.2",null,null,"Intron","rs9395287",43.16,{"$nulls":4},0.5226,0.2808,"G",0.4774,"A",0.5226]
["02160816100201_XZ",47592234,6,"A","insCG",8,"2;5","0;0","0;0","0;0","0;2","0;1",1,1,0,1,0,"Unknown","NA","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SU... (OMIM:607832)","CD2AP","c.*270_*271insCG","NM_012120.2",null,null,"Intron",null,25,{"$nulls":8},"insCG"]
["02160816100201_XZ",47595020,6,"T","CT",8,"0;0","2;0","0;0","1;5","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","N/A","c.*3036+21T>C",{"$nulls":3},"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",49399068,6,"A","AG",13,"4;6","0;0","3;0","0;0","0;0","0;0",0,1,0,1,0,"Unknown",null,"METHYLMALONIC ACIDURIA DUE TO METHYLMALO... (OMIM:251000)","MUT","c.*373T>C","NM_000255.3",null,null,"Intron",null,23.08,{"$nulls":8},"C"]
["02160816100201_XZ",51481315,6,"T","CC",55,"0;0","23;32","0;0","0;0","0;0","0;0",0,1,0,0,879,"Unknown","AR","POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC... (OMIM:263200)","PKHD1","c.*2564A>G","NM_138694.3",null,null,"Intron","rs1414504",100,{"$nulls":8},"G"]
["02160816100201_XZ",51586166,6,"T","GT",10,"0;0","0;0","3;0","1;6","0;0","0;0",0,1,0,1,2,"Unknown","AR","POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC... (OMIM:263200)","PKHD1","c.10156+23017A>C","NM_138694.3",null,null,"Intron",null,30,{"$nulls":8},"C"]
["02160816100201_XZ",51913240,6,"G","AA",148,"100;44","0;1","0;1","0;0","0;0","0;2",0,1,0,0,3846,"Unknown","AR","POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC... (OMIM:263200)","PKHD1","c.2407+50C>T","NM_138694.3",null,null,"Intron","rs10948667",97.3,{"$nulls":8},"T"]
["02160816100201_XZ",53363488,6,"G","delGGCT",153,"0;0","0;1","38;46","0;1","0;0","38;29",0,0,0,0,4852,"Unknown","1.AR/2.NA","GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICI... (OMIM:230450)","GCLC","c.*63_*66delAGCC","NM_001498.3",null,null,"Intron","rs10604357,rs138528239,rs200958404",43.79,{"$nulls":8},"delAGCC"]
["02160816100201_XZ",66005794,6,"C","AC",114,"41;23","37;13","0;0","0;0","0;0","0;0",0,1,0,0,494,"Nonsynonymous","1.NA","RETINITIS PIGMENTOSA 25 (OMIM:602772)","EYS","c.1985G>T","NM_001142800.1","CDS9","p.R662M","Exon","rs144430026",56.14,0.0101,0.0385,1.8E-3,0.0629,{"$nulls":4},"T",{"$nulls":6},"T","P","B","N",0.585,".","."]
["02160816100201_XZ",66094443,6,"A","AG",13,"4;6","0;0","3;0","0;0","0;0","0;0",0,1,0,0,31,"Unknown","1.NA","RETINITIS PIGMENTOSA 25 (OMIM:602772)","EYS","c.1185-50T>C","NM_001142800.1",null,null,"Intron",null,23.08,{"$nulls":8},"C"]
["02160816100201_XZ",74303829,6,"C","CT",14,"0;0","1;8","0;0","0;5","0;0","0;0",0,1,0,0,292,"Unknown","1.AR/2.AR","SIALURIA, FINNISH TYPE (OMIM:604369), INFANTILE SIALIC ACID STORAGE DISORDER (OMIM:269920)","SLC17A5","c.*971G>A","NM_012434.4",null,null,"Intron","rs670248",35.71,{"$nulls":8},"A"]
["02160816100201_XZ",76625079,6,"T","CT",109,"0;0","29;23","0;0","36;21","0;0","0;0",0,0,0,0,835,"Unknown","1.AD/2.AD/3.AR","DEAFNESS, AUTOSOMAL RECESSIVE 37 (OMIM:607821), DEAFNESS, AUTOSOMAL DOMINANT 22 (OMIM:606346)","MYO6","c.*350T>C","NM_004999.3",null,null,"Intron","rs699186",47.71,{"$nulls":6},"C",0.3486,"C",0.3486]
["02160816100201_XZ",76628708,6,"T","CC",4,"0;0","0;3","0;0","1;0","0;0","0;0",1,1,0,1,0,"Unknown","1.AD/2.AD/3.AR","DEAFNESS, AUTOSOMAL RECESSIVE 37 (OMIM:607821), DEAFNESS, AUTOSOMAL DOMINANT 22 (OMIM:606346)","MYO6","c.*3979T>C","NM_004999.3",null,null,"Intron","rs961267453",75,{"$nulls":8},"C"]
["02160816100201_XZ",80625373,6,"T","insC",8,"0;0","0;0","0;0","3;5","0;2","0;0",1,1,0,1,1,"Unknown","1.AD/2.AR/3.AD","STARGARDT DISEASE 3 (OMIM:600110), ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND ME... (OMIM:614457), SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)","ELOVL4","c.*952_*953insG","NM_022726.3",null,null,"Intron",null,25,{"$nulls":8},"insG"]
["02160816100201_XZ",97339078,6,"A","AG",28,"12;6","0;0","8;2","0;0","0;0","0;0",0,1,0,0,6323,"Synonymous","AR","MITOCHONDRIAL COMPLEX I DEFICIENCY (OMIM:252010)","NDUFAF4","c.430T>C","NM_014165.3","CDS3","p.L144L","Exon","rs6684",35.71,{"$nulls":8},"C"]
["02160816100201_XZ",105548418,6,"T","delTATATATATGTATATATA",12,"0;0","0;0","0;0","6;1","0;0","3;2",0,0,0,0,119,"Unknown",null,"N/A","BVES","c.*529_*546delTATATATACATATATATA","NM_007073.4",null,null,"Intron","rs201913419,rs71679760,rs747242482,rs771126445,rs774248287",41.67,{"$nulls":8},"delTATATATACATATATATA"]
["02160816100201_XZ",105548433,6,"A","-",12,"6;1","0;0","0;0","0;0","0;0","3;2",0,0,0,1,232,"Unknown",null,"N/A","BVES","-","NM_007073.4",null,null,"Intron",null,41.67,{"$nulls":8},"-"]
["02160816100201_XZ",108189328,6,"C","TT",111,"0;0","0;0","0;0","59;52","0;0","0;0",0,1,0,0,932,"Unknown","AD","POLYCYSTIC LIVER DISEASE (OMIM:174050)","SEC63","c.*3580G>A","NM_007214.4",null,null,"Intron","rs847120",100,{"$nulls":8},"A"]
["02160816100201_XZ",108191117,6,"A","-",73,"8;8","0;0","0;0","0;0","0;0","35;22",0,0,0,0,906,"Unknown","AD","POLYCYSTIC LIVER DISEASE (OMIM:174050)","SEC63","-","NM_007214.4",null,null,"Intron",null,78.08,{"$nulls":8},"-"]
["02160816100201_XZ",108197870,6,"G","AG",54,"0;12","0;1","17;23","0;0","0;0","1;0",0,1,0,0,3094,"Unknown","AD","POLYCYSTIC LIVER DISEASE (OMIM:174050)","SEC63","c.1936-4C>T","NM_007214.4",null,null,"Intron",null,22.22,{"$nulls":8},"T"]
["02160816100201_XZ",108279290,6,"G","AA",191,"63;126","1;1","0;0","0;0","0;0","0;0",0,1,0,1,6984,"Unknown","AD","POLYCYSTIC LIVER DISEASE (OMIM:174050)","SEC63","c.-77C>T","NM_007214.4",null,null,"Intron","rs2272884",98.95,{"$nulls":8},"T"]
["02160816100201_XZ",112508781,6,"G","GT",4,"0;0","0;0","1;1","0;2","0;0","0;0",1,1,0,0,2,"Nonsynonymous",null,"CARDIOMYOPATHY, DILATED, 1JJ (OMIM:615235)","LAMA4","c.816C>A","NM_002290.4","CDS7","p.D272E","Exon",null,50,"NA","NA","NA","NA",{"$nulls":4},"A",{"$nulls":6},".,D,T",".,D",".,P","D",-0.768,".","."]
["02160816100201_XZ",116596479,6,"T","AT",73,"12;18","0;0","0;0","16;27","0;0","0;0",0,0,0,1,1076,"Unknown","1.AR","SUDDEN INFANT DEATH WITH DYSGENESIS OF T... (OMIM:608800)","TSPYL1","c.*3201A>T","NM_003309.3",null,null,"Intron","rs6568925",41.1,{"$nulls":8},"T"]
["02160816100201_XZ",116599076,6,"A","-",69,"27;23","0;0","0;0","0;0","0;0","19;0",0,1,0,1,596,"Unknown","1.AR","SUDDEN INFANT DEATH WITH DYSGENESIS OF T... (OMIM:608800)","TSPYL1","-","NM_003309.3",null,null,"Intron",null,27.54,{"$nulls":8},"-"]
["02160816100201_XZ",123537869,6,"T","-",40,"0;0","0;2","1;0","11;7","0;0","10;9",0,0,0,0,133,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:615441)","TRDN","-","NM_006073.3",null,null,"Intron",null,47.5,{"$nulls":8},"-"]
["02160816100201_XZ",123595851,6,"A","delA",4,"1;1","0;0","0;0","0;0","0;0","2;0",1,1,0,0,0,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:615441)","TRDN","c.1568-36delT","NM_006073.3",null,null,"Intron",null,50,{"$nulls":8},"delT"]
["02160816100201_XZ",123703215,6,"T","CT",40,"0;0","8;11","0;0","9;12","0;0","0;0",0,1,0,0,625,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:615441)","TRDN","c.1165+48A>G","NM_006073.3",null,null,"Intron","rs74488301",47.5,{"$nulls":8},"G"]
["02160816100201_XZ",123869771,6,"A","-",50,"15;16","0;0","0;0","0;0","0;0","8;11",0,0,0,1,1749,"Unknown","AR","VENTRICULAR TACHYCARDIA, CATECHOLAMINERG... (OMIM:615441)","TRDN","-","NM_006073.3",null,null,"Intron","rs66509682,rs749412025,rs762964151,rs76458993",38,{"$nulls":8},"-"]
["02160816100201_XZ",132212889,6,"T","delT",37,"0;0","0;0","0;0","16;13","0;4","1;7",0,1,0,1,2683,"Unknown","1.AR/2.AD/3.NA/4.AD/5.AD","COLE DISEASE (OMIM:615522), HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECE... (OMIM:613312), ARTERIAL CALCIFICATION, GENERALIZED, OF ... (OMIM:208000)","ENPP1","c.*1256delT","NM_006208.2",null,null,"Intron","rs147561687,rs34545497,rs769107294,rs771795013",21.62,{"$nulls":8},"delT"]
["02160816100201_XZ",134214576,6,"A","GG",484,"2;0","0;0","229;251","1;0","0;0","0;1",0,0,0,0,1101,"Unknown","N/A","N/A","TCF21","c.*292A>G","NM_198392.2",null,null,"Intron","rs7766238",99.17,{"$nulls":6},"A",0.1038,"G",0.8962]
["02160816100201_XZ",145946796,6,"A","AC",103,"29;15","39;20","0;0","0;0","0;0","0;0",0,1,0,0,1,"Unknown","1.AR","MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)","EPM2A","c.*1756T>G","NM_005670.3",null,null,"Intron",null,57.28,{"$nulls":8},"G"]
["02160816100201_XZ",149721965,6,"T","CC",58,"0;1","27;29","1;0","0;0","0;0","0;0",0,0,0,0,990,"Unknown","1.NA","CONGENITAL HEART DISEASE, MULTIPLE TYPES... (OMIM:614980)","TAB2","c.1939+1645T>C","NM_015093.4",null,null,"Intron","rs237024",96.55,{"$nulls":6},"T",0.2975,"C",0.7025]
["02160816100201_XZ",152451910,6,"G","AG",176,"31;60","0;0","30;55","0;0","0;0","0;0",0,1,0,0,1,"Nonsense","1.AD/2.AR","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESS... (OMIM:610743), EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUT... (OMIM:612998)","SYNE1","c.25954C>T","NM_033071.3","CDS144","p.R8652X","Exon",null,51.7,"NA","NA","NA","NA",{"$nulls":4},"T",{"$nulls":6},".",".",".","A",0.655,".","."]
["02160816100201_XZ",152570415,6,"G","AG",87,"17;28","0;0","20;20","0;0","0;0","2;0",0,1,0,0,7942,"Unknown","1.AD/2.AR","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESS... (OMIM:610743), EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUT... (OMIM:612998)","SYNE1","c.19258-18C>T","NM_033071.3",null,null,"Intron","rs6557210",51.72,{"$nulls":8},"T"]
["02160816100201_XZ",152671475,6,"A","AC",130,"26;42","21;40","1;0","0;0","0;0","0;0",0,1,0,0,7033,"Unknown","1.AD/2.AR","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESS... (OMIM:610743), EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUT... (OMIM:612998)","SYNE1","c.11688+278T>G","NM_033071.3",null,null,"Intron","rs9478320",46.92,{"$nulls":8},"G"]
["02160816100201_XZ",152712727,6,"A","AG",10,"2;5","0;0","3;0","0;0","0;0","0;0",0,1,0,0,99,"Unknown","1.AD/2.AR","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESS... (OMIM:610743), EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUT... (OMIM:612998)","SYNE1","c.7734-24T>C","NM_033071.3",null,null,"Intron","rs755681487",30,{"$nulls":8},"C"]
["02160816100201_XZ",152772264,6,"A","GG",176,"2;0","0;0","83;91","0;0","0;0","0;0",0,1,0,1,7864,"Nonsynonymous","1.AD/2.AR","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESS... (OMIM:610743), EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUT... (OMIM:612998)","SYNE1","c.3125T>C","NM_033071.3","CDS25","p.V1042A","Exon","rs214976",98.86,0.5856,0.743,0.481,0.7569,{"$nulls":4},"C",{"$nulls":6},"D","B,P","B","P",0.529,"Likelybenign","not_specified"]
["02160816100201_XZ",155578715,6,"G","-",26,"0;0","0;0","1;0","0;0","0;0","13;12",0,0,0,0,85,"Unknown","N/A","N/A","TIAM2","-","NM_012454.3",null,null,"Intron",null,96.15,{"$nulls":8},"-"]
["02160816100201_XZ",160679400,6,"C","AC",182,"55;39","56;32","0;0","0;0","0;0","0;0",0,1,0,0,2748,"Synonymous","N/A","N/A","SLC22A2","c.390G>T","NM_003058.3","CDS1","p.T130T","Exon","rs624249",51.65,{"$nulls":8},"T"]
["02160816100201_XZ",161173946,6,"T","GG",390,"0;0","0;0","232;158","0;0","0;0","0;0",0,0,0,0,6700,"Synonymous","1.AR/2.AR","PLASMINOGEN DEFICIENCY, TYPE ILIGNEOUS C... (OMIM:217090)","PLG","c.2286T>G","NM_000301.3","CDS19","p.G762G","Exon","rs11060",100,{"$nulls":4},0.6811,0.9782,"T",0.3189,"G",0.6811]
["02160816100201_XZ",169616423,6,"C","CT",172,"0;0","41;63","0;0","24;44","0;0","0;0",0,1,0,0,135,"Unknown","N/A","N/A","THBS2","c.*1494G>A","NM_003247.2",null,null,"Intron","rs1132782",39.53,{"$nulls":8},"A"]
["02160816100201_XZ",169620451,6,"A","delAAG",190,"51;70","0;0","3;0","0;0","0;0","21;45",0,0,0,0,2029,"Unknown","N/A","N/A","THBS2","c.3372-21_3372-19delCTT","NM_003247.2",null,null,"Intron","rs140725844,rs377508074",34.74,{"$nulls":8},"delCTT"]
["02160816100201_XZ",169637911,6,"G","AA",222,"69;152","0;1","0;0","0;0","0;0","0;0",0,1,0,0,6730,"Unknown","N/A","N/A","THBS2","c.1130-21C>T","NM_003247.2",null,null,"Intron","rs9766678",99.55,{"$nulls":8},"T"]
["02160816100201_XZ",2292316,7,"T","GG",18,"0;0","1;0","4;13","0;0","0;0","0;0",0,1,0,0,612,"Unknown",null,"N/A","SNX8","c.*2375A>C","NM_013321.2",null,null,"Intron","rs55919104",94.44,{"$nulls":8},"C"]
["02160816100201_XZ",2578181,7,"C","TT",178,"0;0","2;0","0;0","80;96","0;0","0;0",0,1,0,0,3814,"Nonsynonymous","1.AR","RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME... (OMIM:614498)","BRAT1","c.1988G>A","NM_152743.3","CDS13","p.G663D","Exon","rs61627394",98.88,0.1007,0.2727,0.0548,0.2878,{"$nulls":4},"A",{"$nulls":6},"T","B","B","P",0.561,".","."]
["02160816100201_XZ",4807758,7,"T","-",41,"0;0","2;0","0;0","11;11","0;0","2;15",0,1,0,0,3,"Unknown",null,"N/A","FOXK1","-","NM_001037165.1",null,null,"Intron",null,41.46,{"$nulls":8},"-"]
["02160816100201_XZ",5570101,7,"G","delGCCGCCTGCGGCCGGGCCGTGA",20,"0;0","0;0","7;3","0;0","0;0","9;1",0,0,0,0,229,"Unknown",null,"DYSTONIA, JUVENILE-ONSET (OMIM:607371), BARAITSER-WINTER SYNDROME 1 (OMIM:243310)","ACTB","c.-7+33_-7+54delTCACGGCCCGGCCGCAGGCGGC","NM_001101.3",null,null,"Intron","rs13447390,rs908348615",50,{"$nulls":8},"delTCACGGCCCGGCCGCAGGCGGC"]
["02160816100201_XZ",5570116,7,"G","-",24,"0;0","0;0","9;4","0;0","0;0","10;1",0,1,0,1,459,"Unknown",null,"DYSTONIA, JUVENILE-ONSET (OMIM:607371), BARAITSER-WINTER SYNDROME 1 (OMIM:243310)","ACTB","-","NM_001101.3",null,null,"Intron",null,45.83,{"$nulls":8},"-"]
["02160816100201_XZ",16129184,7,"G","CG",10,"0;0","0;3","4;3","0;0","0;0","0;0",0,1,0,1,1,"Unknown",null,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (L... (OMIM:616052), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:614643)","ISPD","c.*2136C>G","NM_001101426.3",null,null,"Intron",null,30,"NA","NA","NA","NA",{"$nulls":4},"G",{"$nulls":6},"D",".",".",".",0.089,".","."]
["02160816100201_XZ",19155691,7,"T","GT",13,"0;0","0;0","3;0","3;7","0;0","0;0",0,1,0,1,1,"Unknown","1.AD/2.AD/3.AD/4.AD","CRANIOSYNOSTOSIS, TYPE 1 (OMIM:123100), ROBINOW-SORAUF SYNDROME (OMIM:180750), SAETHRE-CHOTZEN SYNDROME (OMIM:101400)","TWIST1","c.*106A>C","NM_000474.3",null,null,"Intron",null,23.08,{"$nulls":8},"C"]
["02160816100201_XZ",21609889,7,"A","AC",34,"9;11","5;7","0;0","0;0","0;0","0;2",0,0,0,1,188,"Nonsynonymous","AR","CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)","DNAH11","c.1397A>C","NM_001277115.1","CDS7","p.K466T","Exon","rs147912535",35.29,0.0041,0.0157,1E-3,0.0114,1.8E-3,0.0089,"C",1.797E-3,"C",1.797E-3,{"$nulls":5},"T","B","B","N",-1.412,".","."]
["02160816100201_XZ",21744039,7,"T","GG",64,"0;0","0;1","42;21","0;0","0;0","0;0",0,0,0,1,6573,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)","DNAH11","c.6274-13T>G","NM_001277115.1",null,null,"Intron","rs2965401",98.44,{"$nulls":4},0.5887,0.748,"T",0.4113,"G",0.5887]
["02160816100201_XZ",21805234,7,"A","-",85,"18;13","0;0","1;0","0;0","0;0","11;42",0,0,0,0,6664,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)","DNAH11","-","NM_001277115.1",null,null,"Intron",null,62.35,{"$nulls":8},"-"]
["02160816100201_XZ",21892024,7,"A","delA",46,"17;12","0;0","0;0","0;0","4;2","12;5",0,0,1,0,2035,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)","DNAH11","c.10897-44delA","NM_001277115.1",null,null,"Intron","rs878912823",36.96,{"$nulls":8},"delA"]
["02160816100201_XZ",24325009,7,"G","AG",360,"79;99","0;0","77;105","0;0","0;0","0;0",0,0,0,1,6148,"Synonymous","N/A","N/A","NPY","c.150G>A","NM_000905.3","CDS1","p.S50S","Exon","rs5573",49.44,{"$nulls":6},"G",0.486,"A",0.514]
["02160816100201_XZ",40228034,7,"A","delAA",14,"8;3","0;0","0;0","0;0","0;0","3;0",0,1,0,0,687,"Unknown",null,"N/A","C7orf10","c.248-41_248-40delAA","NM_001193311.1",null,null,"Intron","rs961870012,rs972794689",21.43,{"$nulls":8},"delAA"]
["02160816100201_XZ",42088222,7,"T","CT",326,"0;0","56;89","0;0","72;109","0;0","0;0",0,1,0,0,6571,"Nonsynonymous","略","POLYDACTYLY, PREAXIAL IV (OMIM:174700), GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700), POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200), PALLISTER-HALL SYNDROME 1 (OMIM:146510)","GLI3","c.547A>G","NM_000168.5","CDS4","p.T183A","Exon","rs846266",44.48,0.6255,0.5839,0.5627,0.5606,{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-0.186,".","."]
["02160816100201_XZ",44558269,7,"A","delA",16,"8;1","0;0","0;0","0;0","1;0","5;2",0,0,0,0,1248,"Unknown","NA","N/A","NPC1L1","c.3137-4delT","NM_013389.2",null,null,"Intron","rs779904340,rs780756298,rs781008206",43.75,{"$nulls":8},"delT"]
["02160816100201_XZ",45067267,7,"G","CG",87,"0;0","27;16","23;20","0;1","0;0","0;0",0,0,0,0,2899,"Unknown",null,"CEREBRAL CAVERNOUS MALFORMATIONS 2 (OMIM:603284)","CCM2","c.31-10585G>C","NM_031443.3",null,null,"Intron","rs2289365",49.43,{"$nulls":6},"C",0.2252,"C",0.2252]
["02160816100201_XZ",45103481,7,"A","AG",236,"73;58","0;0","58;46","0;0","0;0","0;1",0,0,0,0,2856,"Unknown",null,"CEREBRAL CAVERNOUS MALFORMATIONS 2 (OMIM:603284)","CCM2","c.205-36A>G","NM_031443.3",null,null,"Intron","rs2304689",44.07,{"$nulls":4},0.22,0.1905,"G",0.22,"G",0.22]
["02160816100201_XZ",55273592,7,"A","insA",28,"11;14","0;0","1;0","0;0","8;9","0;2",0,0,0,0,1377,"Unknown","N/A","LUNG CANCERALVEOLAR CELL CARCINOMA, INCL... (OMIM:211980), INFLAMMATORY SKIN AND BOWEL DISEASE, NEO... (OMIM:616069)","EGFR","c.*294_*295insA","NM_005228.3",null,null,"Intron","rs5884404,rs886062380",60.71,{"$nulls":8},"insA"]
["02160816100201_XZ",66104435,7,"A","GG",415,"2;1","0;0","222;190","0;0","0;0","0;0",0,0,0,0,1130,"Unknown",null,"EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH ... (OMIM:611726)","KCTD7","c.*216A>G","NM_153033.4",null,null,"Intron","rs77341088",99.28,{"$nulls":6},"G",0.03415,"G",0.03415]
["02160816100201_XZ",73011743,7,"T","GT",29,"0;2","0;0","1;6","19;1","0;0","0;0",0,1,0,0,5188,"Nonsynonymous","N/A","N/A","MLXIPL","c.1372A>C","NM_032951.2","CDS9","p.T458P","Exon","rs782420994",24.14,"NA","NA",0.0002,0,{"$nulls":4},"C",{"$nulls":6},"D,T","P","B","N",0.347,".","."]
["02160816100201_XZ",73820024,7,"C","GG",202,"0;1","0;0","74;126","1;0","0;0","0;0",0,0,0,0,868,"Unknown",null,"N/A","CLIP2","c.*1846C>G","NM_003388.4",null,null,"Intron","rs5874",99.01,{"$nulls":6},"C",0.3407,"G",0.6593]
["02160816100201_XZ",74160795,7,"T","GG",4,"0;0","0;0","3;0","0;1","0;0","0;0",1,1,0,0,153,"Unknown","N/A","N/A","GTF2I","c.2068+45T>G","NM_032999.3",null,null,"Intron",null,75,{"$nulls":8},"G"]
["02160816100201_XZ",81624143,7,"A","AC",9,"4;2","0;3","0;0","0;0","0;0","0;0",1,1,0,1,13,"Unknown",null,"N/A","CACNA2D1","c.1734+41T>G","NM_000722.2",null,null,"Intron",null,33.33,{"$nulls":8},"G"]
["02160816100201_XZ",83031907,7,"T","CC",53,"0;0","32;18","0;0","0;3","0;0","0;0",0,1,0,0,7919,"Unknown","AD","CHARGE SYNDROME (OMIM:214800)","SEMA3E","c.1143+41A>G","NM_012431.2",null,null,"Intron","rs2709930",94.34,{"$nulls":8},"G"]
["02160816100201_XZ",83036569,7,"A","AC",19,"7;8","4;0","0;0","0;0","0;0","0;0",0,1,0,0,1,"Unknown","AD","CHARGE SYNDROME (OMIM:214800)","SEMA3E","c.671-14T>G","NM_012431.2",null,null,"Intron",null,21.05,{"$nulls":8},"G"]
["02160816100201_XZ",83643687,7,"G","AG",27,"2;8","0;0","6;11","0;0","0;0","0;0",0,1,0,0,4576,"Unknown","AD（易感性）","N/A","SEMA3A","c.668-20C>T","NM_006080.2",null,null,"Intron","rs2272221",37.04,{"$nulls":8},"T"]
["02160816100201_XZ",84627636,7,"T","CT",14,"0;0","4;0","0;0","3;7","0;0","0;0",0,1,0,1,1,"Unknown",null,"N/A","SEMA3D","c.*1120A>G","NM_152754.2",null,null,"Intron",null,28.57,{"$nulls":8},"G"]
["02160816100201_XZ",87179143,7,"A","AG",209,"75;43","0;1","57;33","0;0","0;0","0;0",0,1,0,0,4012,"Unknown","N/A","INFLAMMATORY BOWEL DISEASE 13 (OMIM:612244)","ABCB1","c.1554+24T>C","NM_000927.4",null,null,"Intron","rs2235033",43.06,{"$nulls":8},"C"]
["02160816100201_XZ",91711791,7,"A","GG",13,"0;0","0;0","11;2","0;0","0;0","0;0",0,0,0,0,2297,"Unknown",null,"LONG QT SYNDROME 11 (OMIM:611820)","AKAP9","c.8020-45A>G","NM_005751.4",null,null,"Intron","rs2079082",100,{"$nulls":6},"G",0.3606,"G",0.3606]
["02160816100201_XZ",92088349,7,"T","CT",7,"0;0","0;4","0;0","0;3","0;0","0;0",1,1,0,1,3,"Unknown","1.AR","CARDIOMYOPATHY, DILATED, 2B (OMIM:614672)","GATAD1","c.*2473T>C","NM_021167.4",null,null,"Intron",null,57.14,{"$nulls":8},"C"]
["02160816100201_XZ",92088405,7,"T","GT",6,"0;0","0;0","0;4","0;2","0;0","0;0",1,1,0,1,4,"Unknown","1.AR","CARDIOMYOPATHY, DILATED, 2B (OMIM:614672)","GATAD1","c.*2529T>G","NM_021167.4",null,null,"Intron",null,66.67,{"$nulls":8},"G"]
["02160816100201_XZ",94038934,7,"C","TT",483,"0;0","1;2","0;0","272;208","1;0","0;0",0,0,0,0,7934,"Unknown","1.AR/2.AD/3.AD","OSTEOPOROSIS (OMIM:166710), OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220), EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESS... (OMIM:225320), OSTEOGENESIS IMPERFECTA, TYPE IIA (OMIM:166210), OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420), EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSO... (OMIM:130060)","COL1A2","c.936+14C>T","NM_000089.3",null,null,"Intron","rs42518",99.38,{"$nulls":4},0.8281,0.9038,"C",0.1719,"T",0.8281]
["02160816100201_XZ",94937446,7,"T","CT",209,"0;0","50;53","0;0","49;57","0;1","0;0",0,1,0,1,7101,"Nonsynonymous","N/A","PARAOXONASE 1 (OMIM:168820)","PON1","c.575A>G","NM_000446.5","CDS6","p.Q192R","Exon","rs662",49.28,0.516,0.6416,0.3768,0.6614,{"$nulls":4},"G",null,"CM930596","NM_000446.5:c.575A-G","missense/nonsense","DFP","Longevity,association with","T","B","B","P",-0.215,"Pathogenic","Enzyme_activity_finding"]
["02160816100201_XZ",100804430,7,"C","CT",137,"0;0","21;42","0;0","25;49","0;0","0;0",0,0,0,0,1598,"Unknown","AR","MENTAL RETARDATION, ENTEROPATHY, DEAFNES... (OMIM:609313)","AP1S1","c.*583C>T","NM_001283.3",null,null,"Intron","rs1048365",54.01,{"$nulls":6},"T",0.3103,"T",0.3103]
["02160816100201_XZ",104754048,7,"T","delT",17,"0;0","0;0","2;0","4;5","1;0","2;4",0,0,0,0,72,"Unknown","N/A","N/A","KMT2E","c.*281delT","NM_182931.2",null,null,"Intron","rs35249094,rs386360043,rs398047934,rs780422480",35.29,{"$nulls":8},"delT"]
["02160816100201_XZ",107423254,7,"C","CT",145,"0;0","32;19","0;0","55;39","0;0","0;0",0,1,0,0,3044,"Synonymous","AR","DIARRHEA 1, SECRETORY CHLORIDE, CONGENIT... (OMIM:214700)","SLC26A3","c.1299G>A","NM_000111.2","CDS10","p.A433A","Exon","rs3735605",64.83,{"$nulls":8},"A"]
["02160816100201_XZ",107561155,7,"T","CC",274,"0;0","126;143","1;0","1;3","0;0","0;0",0,0,0,0,1561,"Unknown","AR","DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENC... (OMIM:246900)","DLD","c.*1451T>C","NM_000108.3",null,null,"Intron","rs2108223",98.18,{"$nulls":6},"T",0.2847,"C",0.7153]
["02160816100201_XZ",117176571,7,"T","-",30,"0;0","0;0","0;0","10;7","0;0","9;4",0,0,0,0,4675,"Unknown","1.2.AR/3.NA/4.AD/5.NA/6.AD","CYSTIC FIBROSIS (OMIM:219700), VAS DEFERENS, CONGENITAL BILATERAL APLAS... (OMIM:277180)","CFTR","-","NM_000492.3",null,null,"Intron","rs1037816480,rs772644636",43.33,{"$nulls":8},"-"]
["02160816100201_XZ",120389648,7,"T","AT",50,"18;14","0;0","0;0","7;11","0;1","0;0",0,0,0,1,904,"Unknown",null,"N/A","KCND2","c.*1736T>A","NM_012281.2",null,null,"Intron","rs727228",64,{"$nulls":6},"A",0.4241,"A",0.4241]
["02160816100201_XZ",128495338,7,"C","CT",300,"1;1","71;77","0;0","70;80","0;0","0;0",0,0,0,0,4724,"Synonymous","1.AD/ 2.AD","FILAMINOPATHY, AUTOSOMAL DOMINANT (OMIM:609524), MYOPATHY, DISTAL, 4 (OMIM:614065)","FLNC","c.7221C>T","NM_001458.4","CDS43","p.D2407D","Exon","rs3816885",50,{"$nulls":4},0.2588,0.378,"T",0.2588,"T",0.2588]
["02160816100201_XZ",139478175,7,"T","GT",65,"0;0","0;0","9;10","30;16","0;0","0;0",0,0,0,0,780,"Unknown","1.AD/2.AR","GHOSAL HEMATODIAPHYSEAL DYSPLASIA (OMIM:231095), BLEEDING DISORDER, PLATELET-TYPE, 14 (OMIM:614158)","TBXAS1","c.-235-50777T>G","NM_001061.4",null,null,"Intron","rs1860509",29.23,{"$nulls":6},"G",0.3946,"G",0.3946]
["02160816100201_XZ",148543525,7,"A","AG",141,"50;32","0;0","34;24","0;1","0;0","0;0",0,1,0,0,6877,"Unknown","1.AD","WEAVER SYNDROME (OMIM:277590)","EZH2","c.246+37T>C","NM_004456.4",null,null,"Intron","rs10274535",41.13,{"$nulls":8},"C"]
["02160816100201_XZ",150675098,7,"G","AG",19,"1;8","0;1","1;8","0;0","0;0","0;0",0,1,0,0,64,"Unknown",null,"SHORT QT SYNDROME 1 (OMIM:609620), LONG QT SYNDROME 2 (OMIM:613688)","KCNH2","c.-97C>T","NM_000238.3",null,null,"Intron","rs41312541",47.37,{"$nulls":8},"T"]
["02160816100201_XZ",150761314,7,"G","AG",404,"90;100","1;0","101;112","0;0","0;0","0;0",0,0,0,1,1625,"Nonsynonymous",null,"N/A","SLC4A2","c.77G>A","NM_001199692.1","CDS2","p.G26E","Exon","rs2303929",47.03,0.2734,0.3217,0.2626,0.2816,0.2378,0.2877,"A",0.2378,"A",0.2378,{"$nulls":5},"D","B","B","P",-0.394,".","."]
["02160816100201_XZ",151253266,7,"A","delA",11,"0;0","0;0","0;1","0;0","0;0","9;1",0,0,0,0,1357,"Unknown","1.AD/2.AD/3.AD","WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200), CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858), GLYCOGEN STORAGE DISEASE OF HEART, LETHA... (OMIM:261740)","PRKAG2","c.*1021delT","NM_016203.3",null,null,"Intron","rs11329945,rs76228399",90.91,{"$nulls":8},"delT"]
["02160816100201_XZ",151893139,7,"C","CG",26,"0;0","9;11","3;3","0;0","0;0","0;0",0,0,0,0,0,"Unknown",null,"N/A","KMT2C","c.4274-43G>C","NM_170606.2",null,null,"Intron",null,23.08,{"$nulls":8},"C"]
["02160816100201_XZ",151970856,7,"T","AA",818,"311;371","1;0","1;0","64;69","0;0","1;0",0,0,0,0,1063,"Nonsynonymous",null,"N/A","KMT2C","c.946A>T","NM_170606.2","CDS7","p.T316S","Exon","rs10454320",83.37,"NA","NA",0.5306,0.5358,{"$nulls":4},"T",null,"CM156680","NM_170606.2:c.946A-T","missense/nonsense","DM?","Nasopharyngealcarcinoma","T","P","P","D",0.528,".","."]
["02160816100201_XZ",154002439,7,"A","AC",63,"31;19","13;0","0;0","0;0","0;0","0;0",0,1,0,0,5284,"Unknown","N/A","MENTAL RETARDATION, AUTOSOMAL DOMINANT 3... (OMIM:616311)","DPP6","c.244-140860A>C","NM_130797.2",null,null,"Intron","rs1004878228",20.63,{"$nulls":8},"C"]
["02160816100201_XZ",154685167,7,"A","-",82,"18;16","0;0","0;0","0;0","0;0","20;28",0,0,0,0,121,"Unknown","N/A","MENTAL RETARDATION, AUTOSOMAL DOMINANT 3... (OMIM:616311)","DPP6","-","NM_001039350.1",null,null,"Intron",null,58.54,{"$nulls":8},"-"]
["02160816100201_XZ",155601745,7,"C","AC",224,"50;66","41;65","2;0","0;0","0;0","0;0",0,1,0,0,3,"Unknown","1.AD/2.AD/3.N/A/4.AD","SCHIZENCEPHALY (OMIM:269160), MICROPHTHALMIA, ISOLATED, WITH COLOBOMA ... (OMIM:611638), HOLOPROSENCEPHALY 3 (OMIM:142945), SOLITARY MEDIAN MAXILLARY CENTRAL INCISO... (OMIM:147250)","SHH","c.301-2494G>T","NM_000193.2",null,null,"Intron",null,51.79,{"$nulls":8},"T"]
["02160816100201_XZ",158664301,7,"G","-",73,"0;0","0;0","16;28","0;0","0;0","1;28",0,1,0,0,422,"Unknown","1.AR","SHORT-RIB THORACIC DYSPLASIA 8 WITH OR W... (OMIM:615503)","WDR60","-","NM_018051.4",null,null,"Intron",null,39.73,{"$nulls":8},"-"]
["02160816100201_XZ",1817314,8,"G","CG",105,"0;0","40;35","17;13","0;0","0;0","0;0",0,0,0,0,4679,"Unknown","AD","SLOWED NERVE CONDUCTION VELOCITY, AUTOSO... (OMIM:608236)","ARHGEF10","c.623-46G>C","NM_014629.2",null,null,"Intron","rs7003839",71.43,{"$nulls":4},0.1985,0.3681,"C",0.1985,"C",0.1985]
["02160816100201_XZ",2020375,8,"A","AT",143,"35;70","0;0","0;0","24;14","0;0","0;0",0,0,0,0,2875,"Unknown",null,"N/A","MYOM2","c.794-50A>T","NM_003970.2",null,null,"Intron",null,26.57,{"$nulls":8},"T"]
["02160816100201_XZ",2024207,8,"A","CC",166,"0;0","116;50","0;0","0;0","0;0","0;0",0,0,0,0,3039,"Unknown",null,"N/A","MYOM2","c.1121-14A>C","NM_003970.2",null,null,"Intron","rs7822836",100,{"$nulls":6},"A",0.04952,"C",0.9505]
["02160816100201_XZ",6359451,8,"T","delT",21,"0;0","0;1","0;0","5;6","0;0","2;7",0,0,0,0,30,"Unknown",null,"MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIV... (OMIM:251200)","MCPH1","c.2214+2012delT","NM_024596.3",null,null,"Intron","rs33945826,rs398047058",42.86,{"$nulls":8},"delT"]
["02160816100201_XZ",6359480,8,"T","CT",16,"0;0","6;6","0;0","3;1","0;0","0;0",0,0,0,0,29,"Unknown",null,"MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIV... (OMIM:251200)","MCPH1","c.2214+2030T>C","NM_024596.3",null,null,"Intron","rs2167071",75,{"$nulls":6},"C",0.264,"C",0.264]
["02160816100201_XZ",8996419,8,"T","insT",93,"0;0","0;0","0;0","53;40","23;17","0;0",0,0,0,0,627,"Unknown",null,"N/A","PPP1R3B","c.*1885_*1886insA","NM_001201329.1",null,null,"Intron","rs35973937,rs398095592",43.01,{"$nulls":8},"insA"]
["02160816100201_XZ",10581882,8,"A","AC",194,"57;51","42;44","0;0","0;0","0;0","0;0",0,1,0,1,483,"Unknown","N/A","N/A","SOX7","c.*1366T>G","NM_031439.3",null,null,"Intron","rs11250064",44.33,{"$nulls":8},"G"]
["02160816100201_XZ",12943065,8,"T","CC",45,"0;0","15;30","0;0","0;0","0;0","0;0",0,1,0,0,2588,"Unknown","体细胞突变","COLORECTAL CANCER (OMIM:114500)","DLC1","c.*255A>G","NM_182643.2",null,null,"Intron","rs10888175",100,{"$nulls":8},"G"]
["02160816100201_XZ",17914305,8,"G","CG",79,"0;0","13;11","26;27","0;2","0;0","0;0",0,0,0,0,1019,"Unknown","1.2.AR","FARBER LIPOGRANULOMATOSIS (OMIM:228000), MYOCLONUS, HEREDITARY, WITH PROGRESSIVE ... (OMIM:159950)","ASAH1","c.*738C>G","NM_177924.3",null,null,"Intron","rs6769",30.38,{"$nulls":8},"G"]
["02160816100201_XZ",18258370,8,"G","AG",116,"19;14","0;0","43;40","0;0","0;0","0;0",0,0,0,0,1945,"Nonsynonymous","N/A","N/A","NAT2","c.857G>A","NM_000015.2","CDS1","p.G286E","Exon","rs1799931",28.45,0.071,0.1573,0.052,0.1546,0.0773,0.1796,"A",0.07728,"A",0.07728,"CM900170","NM_000015.2:c.857G-A","missense/nonsense","DFP","Slowacetylation","T","B","B","P",0.205,"drugresponse","Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant"]
["02160816100201_XZ",26606263,8,"C","CT",6,"0;0","2;2","0;0","2;0","0;0","0;0",1,1,0,1,2,"Unknown","N/A","N/A","ADRA1A","c.*444+20959G>A","NM_000680.2",null,null,"Intron","rs777433956",33.33,"NA","NA",1E-4,0,{"$nulls":4},"A",{"$nulls":6},"T","B","B","N",-2.646,".","."]
["02160816100201_XZ",27661085,8,"G","AG",26,"8;3","0;0","9;6","0;0","0;0","0;0",0,0,0,0,3246,"Unknown","1.AR/2.AR","ROBERTS SYNDROME (OMIM:268300), SC PHOCOMELIA SYNDROME (OMIM:269000)","ESCO2","c.*130G>A","NM_001017420.2",null,null,"Intron","rs62498042,rs886062866",42.31,{"$nulls":6},"A",0.497,"A",0.497]
["02160816100201_XZ",30954245,8,"T","insT",5,"0;0","0;0","0;0","3;2","1;1","0;0",1,1,0,1,1163,"Unknown",null,"WERNER SYNDROME (OMIM:277700)","WRN","c.1899-27_1899-26insT","NM_000553.4",null,null,"Intron","rs376058022",40,{"$nulls":8},"insT"]
["02160816100201_XZ",38133793,8,"G","AG",271,"79;50","0;1","89;52","0;0","0;1","0;0",0,1,0,0,3657,"Unknown","N/A","LEUKEMIA, ACUTE MYELOID (OMIM:601626)","WHSC1L1","c.4072+21C>T","NM_023034.1",null,null,"Intron","rs1488935",47.6,{"$nulls":8},"T"]
["02160816100201_XZ",41787707,8,"C","-",84,"0;0","5;0","0;0","0;0","0;0","33;46",0,0,0,0,1506,"Unknown",null,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 3... (OMIM:616268)","KAT6A","-","NM_001099412.1",null,null,"Intron",null,94.05,{"$nulls":8},"-"]
["02160816100201_XZ",41788266,8,"T","GT",14,"0;0","0;0","0;3","4;7","0;0","0;0",0,1,0,0,3,"Unknown",null,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 3... (OMIM:616268)","KAT6A","c.*1457A>C","NM_001099412.1",null,null,"Intron",null,21.43,{"$nulls":8},"C"]
["02160816100201_XZ",43002053,8,"T","delT",27,"0;0","0;0","0;0","15;6","2;1","4;2",0,0,1,0,5787,"Unknown","1.AR","MUCOPOLYSACCHARIDOSIS TYPE IIIC (OMIM:252930)","HGSNAT","c.119-23delT","NM_152419.2",null,null,"Intron","rs375505816,rs765942225,rs772540141,rs774896483",22.22,{"$nulls":8},"delT"]
["02160816100201_XZ",55541450,8,"G","AG",133,"31;23","0;0","42;32","1;4","0;0","0;0",0,0,0,0,5434,"Nonsynonymous",null,"RETINITIS PIGMENTOSA 1 (OMIM:180100)","RP1","c.5008G>A","NM_006269.1","CDS3","p.A1670T","Exon","rs446227",40.6,0.2752,0.4371,0.2528,0.4385,0.2482,0.4415,"A",0.2482,"A",0.2482,"CM130735","NM_006269.1:c.5008G-A","missense/nonsense","R","Retinitispigmentosa","T","B","B","P",-0.182,".","."]
["02160816100201_XZ",61779936,8,"T","GG",278,"0;0","0;0","131;147","0;0","0;0","0;0",0,0,0,0,1377,"Unknown","1.AD/2.NA","CHARGE SYNDROME (OMIM:214800), HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR ... (OMIM:612370)","CHD7","c.*1444T>G","NM_017780.3",null,null,"Intron","rs4237040",100,{"$nulls":6},"G",0.4958,"G",0.4958]
["02160816100201_XZ",72965973,8,"G","AG",138,"40;21","0;0","47;30","0;0","0;0","0;0",0,0,0,0,878,"Unknown","N/A","N/A","LOC100132891","c.1644+15G>A","NR_033652.1",null,null,"Intron","rs3735942",44.2,{"$nulls":4},0.4241,0.5585,"A",0.4241,"A",0.4241]
["02160816100201_XZ",73449940,8,"G","AA",171,"82;89","0;0","0;0","0;0","0;0","0;0",0,0,0,0,610,"Unknown",null,"N/A","KCNB2","c.-274G>A","NM_004770.2",null,null,"Intron","rs7845090",100,{"$nulls":6},"G",0.3594,"A",0.6406]
["02160816100201_XZ",77892834,8,"A","TT",301,"0;0","3;2","2;0","127;166","0;0","1;0",0,1,0,0,1562,"Unknown","1.2AR","PEROXISOME BIOGENESIS DISORDER 5A (ZELLW... (OMIM:614866), PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)","PEX2","c.*2663T>A","NM_000318.2",null,null,"Intron","rs28435921",97.34,{"$nulls":8},"A"]
["02160816100201_XZ",82390760,8,"C","TT",61,"0;0","0;0","0;0","28;33","0;0","0;0",0,1,0,1,1158,"Unknown","N/A","N/A","FABP4","c.*340G>A","NM_001442.2",null,null,"Intron","rs1054135",100,{"$nulls":8},"A"]
["02160816100201_XZ",94777583,8,"T","delT",10,"0;0","0;0","0;0","7;0","0;0","0;3",0,1,0,0,7,"Unknown","AR","MECKEL SYNDROME, TYPE 3 (OMIM:607361), JOUBERT SYNDROME 6 (OMIM:610688), NEPHRONOPHTHISIS 11 (OMIM:613550), COACH SYNDROME (OMIM:216360)","TMEM67","c.507-49delT","NM_153704.5",null,null,"Intron",null,30,{"$nulls":8},"delT"]
["02160816100201_XZ",94829695,8,"G","CG",9,"0;0","0;2","4;3","0;0","0;0","0;0",1,1,0,1,3,"Unknown","AR","MECKEL SYNDROME, TYPE 3 (OMIM:607361), JOUBERT SYNDROME 6 (OMIM:610688), NEPHRONOPHTHISIS 11 (OMIM:613550), COACH SYNDROME (OMIM:216360)","TMEM67","c.*1015G>C","NM_153704.5",null,null,"Intron",null,22.22,{"$nulls":8},"C"]
["02160816100201_XZ",100287519,8,"T","-",57,"0;0","1;0","0;0","13;29","0;0","0;14",0,1,0,0,4438,"Unknown","1.AR","COHEN SYNDROME (OMIM:216550)","VPS13B","-","NM_017890.4",null,null,"Intron","rs199718445,rs749161805,rs755845228,rs759338779,rs762487935",24.56,{"$nulls":8},"-"]
["02160816100201_XZ",100844583,8,"T","CT",11,"0;0","0;3","0;0","5;3","0;0","0;0",0,1,0,1,25,"Unknown","1.AR","COHEN SYNDROME (OMIM:216550)","VPS13B","c.9406-14T>C","NM_017890.4",null,null,"Intron",null,27.27,{"$nulls":8},"C"]
["02160816100201_XZ",103661360,8,"C","delCAACAT",83,"0;0","3;0","2;0","0;0","0;0","43;35",0,0,0,0,611,"Unknown",null,"N/A","KLF10","c.*995_*1000delATGTTG","NM_005655.3",null,null,"Intron","rs3842195,rs397746174",93.98,{"$nulls":8},"delATGTTG"]
["02160816100201_XZ",116421434,8,"G","CC",14,"2;0","3;9","0;0","0;0","0;0","0;0",0,1,0,1,1461,"Unknown","AD","TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351), TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)","TRPS1","c.*4817C>G","NM_014112.2",null,null,"Intron","rs231153",85.71,{"$nulls":8},"G"]
["02160816100201_XZ",116680946,8,"G","-",21,"0;0","0;0","3;0","0;0","0;0","5;13",0,0,0,0,1289,"Unknown","AD","TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351), TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)","TRPS1","-","NM_014112.2",null,null,"Intron",null,85.71,{"$nulls":8},"-"]
["02160816100201_XZ",120814020,8,"A","AG",188,"48;29","0;0","54;55","0;1","0;0","0;1",0,1,0,0,5398,"Unknown","1.AR","MENTAL RETARDATION, AUTOSOMAL RECESSIVE ... (OMIM:615599)","TAF2","c.792+14T>C","NM_003184.3",null,null,"Intron","rs7813438",57.98,{"$nulls":8},"C"]
["02160816100201_XZ",126085586,8,"G","AG",55,"9;14","0;0","8;24","0;0","0;0","0;0",0,1,0,1,4552,"Unknown",null,"SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563), RITSCHER-SCHINZEL SYNDROME (OMIM:220210)","KIAA0196","c.979-20C>T","NM_014846.3",null,null,"Intron","rs12546285",41.82,{"$nulls":8},"T"]
["02160816100201_XZ",133140755,8,"T","insTGTG",63,"0;0","0;0","0;0","40;16","12;2","5;2",0,1,1,0,283,"Unknown",null,"EPILEPSY, BENIGN NEONATAL, 2 (OMIM:121201)","KCNQ3","c.*754_*755insCACA","NM_004519.3",null,null,"Intron","rs58156770,rs757948637,rs886062685",22.22,{"$nulls":8},"insCACA"]
["02160816100201_XZ",133925389,8,"G","AG",299,"78;60","0;0","83;76","1;1","0;0","0;0",0,0,0,0,51,"Synonymous","AR","THYROID HORMONOGENESIS, GENETIC DEFECT I... (OMIM:274700)","TG","c.4257G>A","NM_003235.4","CDS20","p.A1419A","Exon","rs116314916",46.15,{"$nulls":4},1.8E-3,0.0089,"A",1.797E-3,"A",1.797E-3]
["02160816100201_XZ",143953937,8,"A","AC",155,"44;35","42;31","3;0","0;0","0;1","0;0",0,1,0,0,1122,"Unknown",null,"ADRENAL HYPERPLASIA, CONGENITAL, DUE TO ... (OMIM:202010), GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM (OMIM:103900)","CYP11B1","c.*1852T>G","NM_000497.3",null,null,"Intron","rs4736312",47.1,{"$nulls":8},"G"]
["02160816100201_XZ",143992661,8,"C","CT",708,"1;0","183;198","0;0","165;161","0;0","0;0",0,1,0,0,705,"Unknown",null,"CORTICOSTERONE METHYLOXIDASE TYPE II DEF... (OMIM:610600), CORTICOSTERONE METHYLOXIDASE TYPE I DEFI... (OMIM:203400)","CYP11B2","c.*735G>A","NM_000498.3",null,null,"Intron","rs28491316",46.05,{"$nulls":8},"A"]
["02160816100201_XZ",144295183,8,"G","TT",126,"0;0","0;0","0;0","49;77","0;0","0;0",0,0,0,0,3880,"Nonsynonymous","AR","HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)","GPIHBP1","c.41G>T","NM_178172.3","CDS1","p.C14F","Exon","rs11538389",100,0.169,0.3427,0.1161,0.3461,0.1587,0.2946,"T",0.1587,"T",0.1587,"CM118147","NM_178172.5:c.41G-T","missense/nonsense","DFP","Reducedexpression","T","B","B","P",0.561,".","."]
["02160816100201_XZ",145151671,8,"T","-",154,"1;0","11;7","0;0","0;0","0;0","47;88",0,0,0,0,6909,"Unknown",null,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NU... (OMIM:615453)","CYC1","-","NM_001916.3",null,null,"Intron","rs386731256,rs553839760,rs67708571,rs746032093,rs747538068,rs75325545,rs758833659,rs761718554,rs766290861,rs774386849,rs777973980,rs79016942",87.66,{"$nulls":8},"-"]
["02160816100201_XZ",145151685,8,"A","-",135,"0;0","0;0","0;0","0;0","0;0","47;88",0,0,0,1,6990,"Unknown",null,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NU... (OMIM:615453)","CYC1","-","NM_001916.3",null,null,"Intron","rs386731256,rs553839760,rs67708571,rs746032093,rs747538068,rs75325545,rs758833659,rs766290861,rs774386849,rs79016942",100,{"$nulls":8},"-"]
["02160816100201_XZ",145738768,8,"G","delG",279,"1;0","4;2","1;0","0;0","0;0","175;96",0,0,0,0,8467,"FS",null,"ROTHMUND-THOMSON SYNDROME (OMIM:268400), BALLER-GEROLD SYNDROME (OMIM:218600), RAPADILINO SYNDROME (OMIM:266280)","RECQL4","c.2297delC","NM_004260.3","CDS14","p.P766Rfs","Exon","rs11342077,rs398010167",97.13,{"$nulls":8},"delC"]
["02160816100201_XZ",118449,9,"G","CG",177,"0;0","51;79","22;24","0;1","0;0","0;0",0,0,0,0,620,"Unknown",null,"N/A","N/A","c.-298-32G>C",{"$nulls":3},"Intron","rs2998956",73.45,{"$nulls":6},"G",0.3868,"C",0.6132]
["02160816100201_XZ",441952,9,"G","AA",98,"43;54","0;0","1;0","0;0","0;0","0;0",0,0,0,0,7292,"Synonymous","AR","HYPER-IGE RECURRENT INFECTION SYNDROME, ... (OMIM:243700)","DOCK8","c.5433G>A","NM_203447.3","CDS42","p.E1811E","Exon","rs1887957",98.98,{"$nulls":4},0.8039,0.994,"G",0.1961,"A",0.8039]
["02160816100201_XZ",2622134,9,"C","CT",49,"0;0","7;22","0;0","5;15","0;0","0;0",0,1,0,0,764,"Unknown",null,"N/A","FLJ35024","c.-56G>A","NR_015375.1",null,null,"Intron","rs34881325",40.82,{"$nulls":8},"A"]
["02160816100201_XZ",2622147,9,"C","delCGGCGGCGG",44,"0;0","7;20","0;0","0;0","0;0","4;13",0,0,0,0,685,"Unknown",null,"N/A","FLJ35024","c.-43_-35delCCGCCGCCG","NR_015375.1",null,null,"Intron","rs1064794642,rs369552432,rs760393260,rs766346441,rs886044463,rs886063805,rs886063806",38.64,{"$nulls":8},"delCCGCCGCCG"]
["02160816100201_XZ",21862897,9,"T","AT",33,"13;5","0;0","0;0","9;6","0;0","0;0",0,0,0,0,1615,"Unknown",null,"DIAPHYSEAL MEDULLARY STENOSIS WITH MALIG... (OMIM:112250)","MTAP","c.*884T>A","NM_002451.3",null,null,"Intron","rs1134871",54.55,{"$nulls":6},"T",0.4681,"A",0.5319]
["02160816100201_XZ",21863450,9,"C","-",2,"0;0","0;0","0;0","0;0","0;0","2;0",1,1,0,0,1,"Unknown",null,"DIAPHYSEAL MEDULLARY STENOSIS WITH MALIG... (OMIM:112250)","MTAP","-","NM_002451.3",null,null,"Intron",null,100,{"$nulls":8},"-"]
["02160816100201_XZ",22003299,9,"A","insA",59,"24;34","0;0","0;0","0;0","6;17","0;1",0,0,0,0,103,"Unknown","N/A","N/A","CDKN2B-AS1","c.*2679_*2680insA","NR_003529.3",null,null,"Intron","rs3217991,rs34503303",38.98,{"$nulls":8},"insA"]
["02160816100201_XZ",22065657,9,"G","CC",171,"0;0","92;78","1;0","0;0","0;0","0;0",0,0,0,0,4108,"Unknown","N/A","N/A","CDKN2B-AS1","c.-360-56345G>C","NR_003529.3",null,null,"Intron","rs1333039",99.42,{"$nulls":6},"G",0.2865,"C",0.7135]
["02160816100201_XZ",32455682,9,"A","delA",30,"12;1","0;0","0;0","0;0","0;0","12;5",0,0,0,0,617,"Unknown","N/A","SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)","DDX58","c.*1438delT","NM_014314.3",null,null,"Intron","rs35050877,rs397762911",56.67,{"$nulls":8},"delT"]
["02160816100201_XZ",40771440,9,"A","AC",16,"8;4","0;4","0;0","0;0","0;0","0;0",0,1,0,0,1,"Unknown",null,"N/A","ZNF658","c.*655T>G","NM_033160.5",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",71692705,9,"C","GG",11,"0;0","0;0","5;6","0;0","0;0","0;0",0,0,0,0,1672,"Unknown","1.AR/2.AR","FRIEDREICH ATAXIA 1 (OMIM:229300)","FXN","c.*5027C>G","NM_000144.4",null,null,"Intron","rs7848466",100,{"$nulls":6},"C",0.01018,"G",0.9898]
["02160816100201_XZ",71820008,9,"A","GG",449,"0;0","0;0","258;189","1;0","0;0","1;0",0,0,0,0,7015,"Unknown","AR","HYPERCHOLANEMIA, FAMILIAL (OMIM:607748), CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAH... (OMIM:615878)","TJP2","c.61-7456A>G","NM_004817.3",null,null,"Intron","rs2498440",99.55,{"$nulls":6},"A",0.1226,"G",0.8774]
["02160816100201_XZ",73151715,9,"C","TT",359,"0;0","0;1","0;0","163;195","0;0","0;0",0,1,0,0,7017,"Synonymous","N/A","N/A","TRPM3","c.3819G>A","NM_020952.4","CDS23","p.L1273L","Exon","rs7033976",99.72,0.8942,0.986,0.8559,0.977,{"$nulls":4},"A",{"$nulls":6},".",".",".","P",-0.14,".","."]
["02160816100201_XZ",77407636,9,"C","CT",151,"1;0","25;49","0;0","29;47","0;0","0;0",0,1,0,1,5513,"Synonymous","AR","HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEM... (OMIM:602014)","TRPM6","c.2442G>A","NM_017662.4","CDS19","p.Q814Q","Exon","rs4145894",50.33,{"$nulls":8},"A"]
["02160816100201_XZ",79852932,9,"T","GT",13,"0;0","0;0","0;3","7;3","0;0","0;0",0,1,0,1,1,"Nonsynonymous","1.AR","CHOREOACANTHOCYTOSIS (OMIM:200150)","VPS13A","c.1610T>G","NM_033305.2","CDS18","p.I537R","Exon",null,23.08,"NA","NA","NA","NA",{"$nulls":4},"G",{"$nulls":6},"D","D","P","D",0.477,".","."]
["02160816100201_XZ",79972571,9,"A","delAA",6,"3;1","0;0","0;0","0;0","0;0","0;2",1,1,0,1,1,"Unknown","1.AR","CHOREOACANTHOCYTOSIS (OMIM:200150)","VPS13A","c.7807-36_7807-35delAA","NM_033305.2",null,null,"Intron",null,33.33,{"$nulls":8},"delAA"]
["02160816100201_XZ",80022415,9,"A","AT",22,"3;5","0;0","0;0","5;9","0;0","0;0",0,0,0,1,6543,"Unknown","1.AR","CHOREOACANTHOCYTOSIS (OMIM:200150)","VPS13A","c.9400-34A>T","NM_033305.2",null,null,"Intron","rs2025846",63.64,{"$nulls":6},"A",0.4153,"T",0.5847]
["02160816100201_XZ",94487090,9,"G","AG",324,"69;70","0;0","92;93","0;0","0;0","0;0",0,1,0,0,1061,"Synonymous",null,"BRACHYDACTYLY, TYPE B1 (OMIM:113000), ROBINOW SYNDROME, AUTOSOMAL RECESSIVE (OMIM:268310)","ROR2","c.1686C>T","NM_004560.3","CDS9","p.H562H","Exon","rs56048121",42.9,{"$nulls":8},"T"]
["02160816100201_XZ",97862118,9,"C","TT",365,"0;0","1;2","0;0","183;179","0;0","0;0",0,1,0,0,2433,"Unknown","1.AR","FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)","FANCC","c.*1871G>A","NM_000136.2",null,null,"Intron","rs4647558",99.18,{"$nulls":8},"A"]
["02160816100201_XZ",98206494,9,"C","CT",14,"0;0","8;3","0;0","0;3","0;0","0;0",0,1,0,1,3,"Unknown","1.AD/2.AD","BASAL CELL NEVUS SYNDROME (OMIM:109400), HOLOPROSENCEPHALY 7 (OMIM:610828), BASAL CELL CARCINOMA, SUSCEPTIBILITY TO,... (OMIM:605462)","PTCH1","c.*2180G>A","NM_000264.3",null,null,"Intron","rs573968646",21.43,{"$nulls":8},"A"]
["02160816100201_XZ",101498539,9,"T","AT",479,"122;105","0;0","0;0","140;112","0;1","0;0",0,0,0,0,1328,"Unknown","AR","NEPHRONOPHTHISIS 16 (OMIM:615382)","ANKS6","c.*262A>T","NM_173551.3",null,null,"Intron","rs337585",47.39,{"$nulls":8},"T"]
["02160816100201_XZ",103348208,9,"A","AT",192,"48;56","0;0","0;0","52;36","0;0","0;0",0,0,0,0,2539,"Synonymous",null,"N/A","MURC","c.570A>T","NM_001018116.2","CDS2","p.S190S","Exon","rs28623148",45.83,{"$nulls":4},0.1178,0.2232,"T",0.1178,"T",0.1178]
["02160816100201_XZ",107544579,9,"C","delC",8,"0;0","3;3","0;0","0;0","0;0","2;0",1,1,0,1,1,"Unknown",null,"HYPOALPHALIPOPROTEINEMIA, PRIMARY (OMIM:604091), TANGIER DISEASE (OMIM:205400)","ABCA1","c.*2017delG","NM_005502.3",null,null,"Intron",null,25,{"$nulls":8},"delG"]
["02160816100201_XZ",107566877,9,"C","AA",110,"61;47","0;2","0;0","0;0","0;0","0;0",0,1,0,1,8086,"Unknown",null,"HYPOALPHALIPOPROTEINEMIA, PRIMARY (OMIM:604091), TANGIER DISEASE (OMIM:205400)","ABCA1","c.4559+30G>T","NM_005502.3",null,null,"Intron","rs2777801",98.18,{"$nulls":8},"T"]
["02160816100201_XZ",108398331,9,"T","GT",61,"0;0","0;0","22;23","5;11","0;0","0;0",0,0,0,1,1531,"Unknown","略","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:613152), CARDIOMYOPATHY, DILATED, 1X (OMIM:611615), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (L... (OMIM:611588), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:253800)","FKTN","c.*786T>G","NM_001079802.1",null,null,"Intron","rs10978177",73.77,{"$nulls":6},"G",0.2103,"G",0.2103]
["02160816100201_XZ",123664790,9,"G","TT",47,"0;0","1;0","2;7","32;2","0;0","3;0",0,1,0,0,352,"Unknown",null,"N/A","TRAF1","c.*2508C>A","NM_001190945.1",null,null,"Intron","rs13053",72.34,{"$nulls":8},"A"]
["02160816100201_XZ",125145743,9,"T","CT",184,"0;0","44;36","0;0","60;44","0;0","0;0",0,0,0,0,1387,"Unknown","N/A","N/A","PTGS1","c.763-45T>C","NM_000962.3",null,null,"Intron","rs3842798",43.48,{"$nulls":4},0.3476,0.1062,"C",0.3476,"C",0.3476]
["02160816100201_XZ",126118518,9,"G","delGCAGAGC",61,"0;0","0;0","1;1","0;0","0;0","31;28",0,0,0,1,3320,"Unknown",null,"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 (OMIM:616220), VENTRICULOMEGALY WITH CYSTIC KIDNEY DISE... (OMIM:219730)","CRB2","c.-14_-8delCAGAGCG","NM_173689.5",null,null,"Intron","rs60364866,rs72433015",96.72,{"$nulls":8},"delCAGAGCG"]
["02160816100201_XZ",126125318,9,"C","AA",210,"92;118","0;0","0;0","0;0","0;0","0;0",0,0,0,1,3848,"Nonsynonymous",null,"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 (OMIM:616220), VENTRICULOMEGALY WITH CYSTIC KIDNEY DISE... (OMIM:219730)","CRB2","c.269C>A","NM_173689.5","CDS2","p.T90N","Exon","rs2808415",100,0.9973,1,0.9992,1,null,null,"C",0.002995,"A",0.997,{"$nulls":5},"T","B","B","P",-1.455,".","."]
["02160816100201_XZ",129461320,9,"T","-",378,"0;0","4;3","0;0","101;111","0;0","71;88",0,0,0,0,934,"Unknown",null,"NAIL-PATELLA SYNDROME (OMIM:161200)","LMX1B","-","NM_002316.3",null,null,"Intron",null,42.06,{"$nulls":8},"-"]
["02160816100201_XZ",131085373,9,"G","CC",153,"0;1","66;86","0;0","0;0","0;0","0;0",0,0,0,0,7617,"Nonsynonymous",null,"COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)","COQ4","c.149G>C","NM_016035.3","CDS2","p.G50A","Exon","rs3003601",99.35,0.9986,1,0.9987,1,null,null,"G",0.001997,"C",0.998,{"$nulls":5},"T","B","B","P",-0.357,".","."]
["02160816100201_XZ",134386675,9,"T","GG",156,"0;2","0;0","95;59","0;0","0;0","0;0",0,0,0,0,8214,"Unknown","1.AR/2.AR/3.AR","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:236670), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (L... (OMIM:609308), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:613155)","POMT1","c.922-49T>G","NM_007171.3",null,null,"Intron","rs4740163",98.72,{"$nulls":4},0.9812,1,"T",0.01877,"G",0.9812]
["02160816100201_XZ",135203409,9,"A","CC",121,"3;1","51;66","0;0","0;0","0;0","0;0",0,1,0,0,4245,"Nonsynonymous","1.AD/2.AR","AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENIL... (OMIM:602433), SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESS... (OMIM:606002)","SETX","c.3576T>G","NM_015046.5","CDS8","p.D1192E","Exon","rs1185193",96.69,0.6571,0.3357,0.7634,0.3062,{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-1.469,".","."]
["02160816100201_XZ",136130513,9,"T","CT",20,"0;0","5;1","0;0","6;8","0;0","0;0",0,0,0,0,95,"Unknown",null,"N/A","N/A","c.*490+50T>C",{"$nulls":3},"Intron","rs1050719044",30,{"$nulls":8},"C"]
["02160816100201_XZ",136130561,9,"G","-",23,"0;0","0;0","8;10","0;0","0;0","4;1",0,1,0,0,46,"Unknown",null,"N/A","N/A","-",{"$nulls":3},"Intron",null,21.74,{"$nulls":8},"-"]
["02160816100201_XZ",136131437,9,"C","TT",314,"0;0","1;1","3;0","137;172","0;0","0;0",0,1,0,1,2809,"Nonsynonymous","N/A","N/A","ABO","c.680G>A","NM_020469.2","CDS7","p.R227H","Exon","rs8176742",98.41,{"$nulls":8},"A"]
["02160816100201_XZ",136223217,9,"C","AC",4,"2;0","0;2","0;0","0;0","0;0","0;0",1,1,0,1,20,"Unknown","1.AR/线粒体的","LEIGH SYNDROME (OMIM:256000)","SURF1","c.55-42G>T","NM_003172.3",null,null,"Intron",null,50,{"$nulls":8},"T"]
["02160816100201_XZ",137024248,9,"G","CG",158,"0;0","54;37","34;33","0;0","0;0","0;0",0,0,0,0,411,"Unknown",null,"N/A","WDR5","c.*1133G>C","NM_052821.3",null,null,"Intron","rs1128044",57.59,{"$nulls":6},"C",0.3049,"C",0.3049]
["02160816100201_XZ",137688784,9,"G","-",275,"0;0","0;0","23;29","0;0","0;0","101;122",0,0,0,0,7993,"Unknown",null,"EHLERS-DANLOS SYNDROME, TYPE I (OMIM:130000)","COL5A1","-","NM_000093.4",null,null,"Intron","rs142676375,rs368760930,rs761587955",81.09,{"$nulls":8},"-"]
["02160816100201_XZ",137688786,9,"C","-",267,"0;0","15;29","0;0","0;0","0;0","101;122",0,0,0,1,7995,"Unknown",null,"EHLERS-DANLOS SYNDROME, TYPE I (OMIM:130000)","COL5A1","-","NM_000093.4",null,null,"Intron",null,83.52,{"$nulls":8},"-"]
["02160816100201_XZ",137735235,9,"A","-",259,"93;59","0;0","5;0","0;0","0;0","60;42",0,0,0,0,1720,"Unknown",null,"EHLERS-DANLOS SYNDROME, TYPE I (OMIM:130000)","COL5A1","-","NM_000093.4",null,null,"Intron",null,39.38,{"$nulls":8},"-"]
["02160816100201_XZ",139411880,9,"G","AG",112,"25;36","0;2","22;27","0;0","0;0","0;0",0,1,0,0,7362,"Unknown","1.AD/2.AD","ADAMS-OLIVER SYNDROME 5 (OMIM:616028), AORTIC VALVE DISEASE 1 (OMIM:109730)","NOTCH1","c.1442-43C>T","NM_017617.3",null,null,"Intron","rs9411254",54.46,{"$nulls":8},"T"]
["02160816100201_XZ",139412197,9,"G","AG",280,"90;50","0;0","75;65","0;0","0;0","0;0",0,1,0,0,7437,"Unknown","1.AD/2.AD","ADAMS-OLIVER SYNDROME 5 (OMIM:616028), AORTIC VALVE DISEASE 1 (OMIM:109730)","NOTCH1","c.1441+7C>T","NM_017617.3",null,null,"Intron","rs9411208",50,{"$nulls":8},"T"]
["02160816100201_XZ",140918172,9,"G","-",176,"0;0","0;1","66;43","0;0","0;0","37;29",0,0,0,0,2781,"In-frame",null,"DYSTONIA 23 (OMIM:614860)","CACNA1B","-","NM_000718.3","CDS19",null,"Exon","rs145816559,rs370787788,rs748233323",37.5,{"$nulls":8},"-"]
["02160816100201_XZ",140938183,9,"A","AG",446,"133;112","0;0","121;79","0;0","0;0","0;1",0,0,0,0,2915,"Unknown",null,"DYSTONIA 23 (OMIM:614860)","CACNA1B","c.3287-43A>G","NM_000718.3",null,null,"Intron","rs3750506",44.84,{"$nulls":6},"G",0.4577,"G",0.4577]
["02160816100201_XZ",141018881,9,"A","AC",16,"9;3","0;4","0;0","0;0","0;0","0;0",0,1,0,0,1,"Unknown",null,"DYSTONIA 23 (OMIM:614860)","CACNA1B","c.*2430A>C","NM_000718.3",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",1061646,10,"T","CT",119,"1;0","37;15","0;0","46;20","0;0","0;0",0,0,0,1,1998,"Unknown",null,"N/A","GTPBP4","c.1609-47T>C","NM_012341.2",null,null,"Intron","rs61830965",43.7,{"$nulls":6},"C",0.4497,"C",0.4497]
["02160816100201_XZ",13341378,10,"C","CT",108,"0;0","37;32","0;0","24;15","0;0","0;0",0,1,0,0,2235,"Unknown","AR","REFSUM DISEASE (OMIM:266500)","PHYH","c.75+590G>A","NM_006214.3",null,null,"Intron","rs3802586",36.11,{"$nulls":8},"A"]
["02160816100201_XZ",15685983,10,"A","TT",61,"0;0","0;0","0;0","49;12","0;0","0;0",0,1,0,0,7323,"Unknown",null,"RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)","ITGA8","c.1399+46T>A","NM_003638.1",null,null,"Intron","rs4748191",100,{"$nulls":8},"A"]
["02160816100201_XZ",16979606,10,"G","TT",86,"0;0","0;0","0;0","44;42","0;0","0;0",0,1,0,0,2561,"Nonsynonymous",null,"MEGALOBLASTIC ANEMIA 1 (OMIM:261100)","CUBN","c.5911C>A","NM_001081.3","CDS39","p.P1971T","Exon","rs2356590",100,0.0893,0.1871,0.0579,0.1738,{"$nulls":4},"A",{"$nulls":6},"D","P","P","P",0.591,".","."]
["02160816100201_XZ",18430156,10,"T","GT",55,"0;0","0;0","0;15","29;11","0;0","0;0",0,1,0,0,2887,"Unknown","1.NA","BRUGADA SYNDROME 4 (OMIM:611876)","CACNB2","c.-242-199458T>G","NM_201590.2",null,null,"Intron",null,27.27,{"$nulls":8},"G"]
["02160816100201_XZ",18830669,10,"T","CC",4,"0;0","0;4","0;0","0;0","0;0","0;0",1,1,0,0,931,"Unknown","1.NA","BRUGADA SYNDROME 4 (OMIM:611876)","CACNB2","c.*2016T>C","NM_201590.2",null,null,"Intron","rs7079776",100,{"$nulls":6},"T",0.2398,"C",0.7602]
["02160816100201_XZ",21108377,10,"C","CT",129,"0;2","36;34","0;0","37;20","0;0","0;0",0,1,0,0,3048,"Synonymous","NA","N/A","NEBL","c.2031G>A","NM_006393.2","CDS20","p.R677R","Exon","rs1006363",44.19,{"$nulls":8},"A"]
["02160816100201_XZ",21177168,10,"T","GT",4,"0;0","0;0","2;0","0;2","0;0","0;0",1,1,0,0,19,"Unknown","NA","N/A","NEBL","c.259-32A>C","NM_006393.2",null,null,"Intron",null,50,{"$nulls":8},"C"]
["02160816100201_XZ",27294451,10,"T","-",14,"0;0","0;0","0;0","4;2","0;0","4;4",0,0,0,1,3329,"Unknown","AD","THROMBOCYTOPENIA 2 (OMIM:188000)","ANKRD26","-","NM_014915.2",null,null,"Intron",null,57.14,{"$nulls":8},"-"]
["02160816100201_XZ",27323690,10,"A","AC",8,"5;1","0;2","0;0","0;0","0;0","0;0",1,1,0,1,2,"Unknown","AD","THROMBOCYTOPENIA 2 (OMIM:188000)","ANKRD26","c.3654+35T>G","NM_014915.2",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",27375559,10,"C","CT",13,"0;0","1;4","0;0","3;5","0;0","0;0",0,1,0,0,3346,"Unknown","AD","THROMBOCYTOPENIA 2 (OMIM:188000)","ANKRD26","c.639-21G>A","NM_014915.2",null,null,"Intron","rs66853312",61.54,{"$nulls":8},"A"]
["02160816100201_XZ",27475444,10,"T","CT",110,"0;0","30;27","0;1","26;26","0;0","0;0",0,0,0,1,4819,"Synonymous",null,"THROMBOCYTOPENIA 2 (OMIM:188000)","MASTL","c.2616T>C","NM_032844.3","CDS12","p.T872T","Exon","rs10741130",51.82,{"$nulls":4},0.511,0.4563,"T",0.489,"C",0.511]
["02160816100201_XZ",33467108,10,"G","AA",197,"108;89","0;0","0;0","0;0","0;0","0;0",0,1,0,0,638,"Unknown",null,"N/A","NRP1","c.*1896C>T","NM_003873.5",null,null,"Intron","rs10080",100,{"$nulls":8},"T"]
["02160816100201_XZ",33623625,10,"G","insG",13,"0;0","0;0","9;4","0;0","7;0","0;0",0,1,0,0,122,"Unknown",null,"N/A","NRP1","c.-315_-314insC","NM_003873.5",null,null,"Intron",null,53.85,{"$nulls":8},"insC"]
["02160816100201_XZ",43613843,10,"G","TT",136,"0;0","0;0","0;0","76;60","0;0","0;0",0,0,0,1,6472,"Synonymous",null,"MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300), RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830), MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400), CENTRAL HYPOVENTILATION SYNDROME, CONGEN... (OMIM:209880), PHEOCHROMOCYTOMA (OMIM:171300), THYROID CARCINOMA, FAMILIAL MEDULLARY (OMIM:155240)","RET","c.2307G>T","NM_020975.4","CDS13","p.L769L","Exon","rs1800861",100,{"$nulls":4},0.7125,0.4742,"G",0.2875,"T",0.7125,"CM014825","NM_020975.4:c.2307T-G","missense/nonsense","DP","Hirschsprungdisease, association with"]
["02160816100201_XZ",50663038,10,"A","AG",35,"3;6","0;0","12;14","0;0","0;0","0;0",0,1,0,0,89,"Unknown","略","UV-SENSITIVE SYNDROME 1 (OMIM:600630), CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150), COCKAYNE SYNDROME, TYPE B (OMIM:133540), LUNG CANCERALVEOLAR CELL CARCINOMA, INCL... (OMIM:211980), DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)","ERCC6","c.*3823T>C","NM_000124.3",null,null,"Intron","rs73297748",74.29,{"$nulls":8},"C"]
["02160816100201_XZ",54032269,10,"A","AG",57,"7;13","0;0","15;22","0;0","0;0","0;0",0,0,0,0,3036,"Unknown","AD","AORTIC ANEURYSM, FAMILIAL THORACIC 8 (OMIM:615436)","PRKG1","c.1403+28A>G","NM_006258.3",null,null,"Intron","rs76977136",64.91,{"$nulls":4},0.0839,0.2262,"G",0.08387,"G",0.08387]
["02160816100201_XZ",55892601,10,"A","insACAC",86,"68;18","0;0","0;0","0;0","47;11","0;0",0,0,0,0,4794,"Unknown","AR","DEAFNESS, AUTOSOMAL RECESSIVE 23 (OMIM:609533), USHER SYNDROME, TYPE IF (OMIM:602083), USHER SYNDROME, TYPE ID (OMIM:601067)","PCDH15","c.1917+34_1917+35insGTGT","NM_033056.3",null,null,"Intron","rs139190647,rs201069783,rs35881482,rs5785040",67.44,{"$nulls":8},"insGTGT"]
["02160816100201_XZ",60157510,10,"T","insTG",48,"0;0","0;0","1;0","13;33","9;21","1;0",0,0,0,0,19,"Unknown","N/A","N/A","TFAM","c.*2699_*2700insTG","NM_003201.2",null,null,"Intron","rs145920676,rs752020231,rs879481327",62.5,{"$nulls":8},"insTG"]
["02160816100201_XZ",65024536,10,"A","AG",8,"2;4","0;0","2;0","0;0","1;0","0;0",1,1,0,0,1,"Unknown","N/A","N/A","JMJD1C","c.334-12T>C","NM_032776.1",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",69366602,10,"T","CT",156,"0;0","49;33","0;0","45;29","0;1","0;0",0,1,0,0,5602,"Unknown",null,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLAS... (OMIM:615616)","CTNNA3","c.292+13A>G","NM_013266.2",null,null,"Intron","rs3750863",52.56,{"$nulls":8},"G"]
["02160816100201_XZ",69935059,10,"A","GG",136,"1;2","0;1","71;61","0;0","0;0","0;0",0,0,0,0,3806,"Unknown","1.AD/2.AD/3.AD","CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)","MYPN","c.2565-21A>G","NM_032578.3",null,null,"Intron","rs7097776",97.06,{"$nulls":4},0.5475,0.3294,"A",0.4525,"G",0.5475]
["02160816100201_XZ",69971652,10,"C","GG",79,"1;1","0;0","42;35","0;0","0;0","0;0",0,0,0,0,1609,"Unknown","1.AD/2.AD/3.AD","CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)","MYPN","c.*1440C>G","NM_032578.3",null,null,"Intron","rs2278675",97.47,{"$nulls":6},"G",0.4431,"G",0.4431]
["02160816100201_XZ",73121913,10,"A","GG",527,"2;1","0;0","297;227","0;0","0;0","0;0",0,0,0,0,6840,"Nonsynonymous","AR","HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDR... (OMIM:602782)","SLC29A3","c.976A>G","NM_018344.5","CDS6","p.I326V","Exon","rs2487068",99.43,0.8063,0.6783,0.8245,0.7087,0.7927,0.6964,"A",0.2073,"G",0.7927,{"$nulls":5},"T","B","B","P",-1.082,"Likelybenign","not_specified"]
["02160816100201_XZ",73772661,10,"T","AT",558,"151;128","0;2","0;0","149;128","0;0","0;0",0,0,0,0,1068,"Unknown","AR","SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGEN... (OMIM:143095)","CHST3","c.*4432T>A","NM_004273.4",null,null,"Intron","rs1871452",50,{"$nulls":6},"T",0.4083,"A",0.5917]
["02160816100201_XZ",75878034,10,"T","AT",149,"28;22","0;0","0;0","49;49","0;0","0;1",0,0,0,0,387,"Unknown","1.NA/2.NA","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1... (OMIM:613255), CARDIOMYOPATHY, DILATED, 1W (OMIM:611407)","VCL","c.*107T>A","NM_014000.2",null,null,"Intron","rs76086805",33.56,{"$nulls":6},"A",3.395E-3,"A",3.395E-3]
["02160816100201_XZ",81316048,10,"C","CT",115,"1;0","42;13","0;0","32;26","0;0","0;1",0,1,0,0,540,"Unknown","AD","PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)","SFTPA2","c.*917G>A","NM_001098668.2",null,null,"Intron","rs17884357",50.43,{"$nulls":8},"A"]
["02160816100201_XZ",88458997,10,"T","delTCTCTC",172,"0;0","0;0","0;0","15;4","0;0","103;50",0,0,0,0,5431,"Unknown",null,"CARDIOMYOPATHY, DILATED, 1C (OMIM:601493), MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)","LDB3","c.756-15_756-10delCTCTCT","NM_001080116.1",null,null,"Intron","rs200325174,rs554580693,rs747716580,rs766494413,rs778510819,rs796294071",88.95,{"$nulls":8},"delCTCTCT"]
["02160816100201_XZ",88495007,10,"C","AC",61,"2;16","36;6","0;0","0;0","0;2","0;1",0,1,0,0,17,"Unknown",null,"CARDIOMYOPATHY, DILATED, 1C (OMIM:601493), MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)","LDB3","c.*679+35197C>A","NM_001080116.1",null,null,"Intron",null,29.51,{"$nulls":8},"A"]
["02160816100201_XZ",89623716,10,"G","AG",53,"12;14","0;0","12;15","0;0","0;0","0;0",0,0,0,0,2034,"Unknown","略","ENDOMETRIAL CANCER (OMIM:608089), PROSTATE CANCER (OMIM:176807), COWDEN SYNDROME 1 (OMIM:158350), BANNAYAN-RILEY-RUVALCABA SYNDROME (OMIM:153480), MACROCEPHALY/AUTISM SYNDROME (OMIM:605309), THYROID CARCINOMA, FOLLICULAR (OMIM:188470), MELANOMA, CUTANEOUS MALIGNANT (OMIM:155600), SQUAMOUS CELL CARCINOMA, HEAD AND NECK (OMIM:275355), VACTERL ASSOCIATION WITH HYDROCEPHALUS (OMIM:276950)","PTEN","c.-511G>A","NM_000314.4",null,null,"Intron","rs12573787",49.06,{"$nulls":6},"A",0.1603,"A",0.1603]
["02160816100201_XZ",89726676,10,"T","AT",5,"2;0","0;0","0;0","0;3","0;0","0;0",1,1,0,1,1,"Unknown","略","ENDOMETRIAL CANCER (OMIM:608089), PROSTATE CANCER (OMIM:176807), COWDEN SYNDROME 1 (OMIM:158350), BANNAYAN-RILEY-RUVALCABA SYNDROME (OMIM:153480), MACROCEPHALY/AUTISM SYNDROME (OMIM:605309), THYROID CARCINOMA, FOLLICULAR (OMIM:188470), MELANOMA, CUTANEOUS MALIGNANT (OMIM:155600), SQUAMOUS CELL CARCINOMA, HEAD AND NECK (OMIM:275355), VACTERL ASSOCIATION WITH HYDROCEPHALUS (OMIM:276950)","PTEN","c.*1447T>A","NM_000314.4",null,null,"Intron",null,40,{"$nulls":8},"A"]
["02160816100201_XZ",90983629,10,"C","TT",58,"0;0","0;1","0;0","21;36","0;0","0;0",0,1,0,1,6665,"Unknown",null,"LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)","LIPA","c.676-42G>A","NM_000235.2",null,null,"Intron","rs1556478",98.28,{"$nulls":8},"A"]
["02160816100201_XZ",92678751,10,"A","-",33,"0;0","0;0","2;0","0;0","0;0","16;15",0,0,0,0,4013,"Unknown",null,"N/A","ANKRD1","-","NM_014391.2",null,null,"Intron","rs111461553,rs72003210,rs750974250,rs751458325,rs751818504,rs757444498,rs757647465,rs796693492,rs960352074",93.94,{"$nulls":8},"-"]
["02160816100201_XZ",95994119,10,"G","CG",101,"0;0","7;36","14;44","0;0","0;0","0;0",0,0,0,1,566,"Unknown","AR","NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)","PLCE1","c.2214+50G>C","NM_016341.3",null,null,"Intron","rs117411918",42.57,{"$nulls":4},0.0078,0.0357,"C",0.007788,"C",0.007788]
["02160816100201_XZ",97397227,10,"T","CC",189,"0;1","60;128","0;0","0;0","0;0","0;0",0,1,0,0,7748,"Unknown","AR","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II... (OMIM:219150)","ALDH18A1","c.304-34A>G","NM_002860.3",null,null,"Intron","rs2275273",99.47,{"$nulls":8},"G"]
["02160816100201_XZ",100176869,10,"C","CT",337,"0;1","99;80","0;0","68;87","0;0","2;0",0,1,0,0,1309,"Unknown",null,"HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)","HPS1","c.*452G>A","NM_000195.3",null,null,"Intron","rs701801",45.99,{"$nulls":8},"A"]
["02160816100201_XZ",100185250,10,"C","CT",228,"0;0","70;47","0;0","71;40","0;2","0;0",0,1,0,1,2742,"Unknown",null,"HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)","HPS1","c.1335+48G>A","NM_000195.3",null,null,"Intron","rs41317034",48.68,{"$nulls":8},"A"]
["02160816100201_XZ",102750621,10,"C","CT",286,"0;0","73;65","0;0","84;64","0;0","0;0",0,0,0,0,6637,"Unknown",null,"N/A","C10orf2","c.1593-5C>T","NM_021830.4",null,null,"Intron","rs3740485",51.75,{"$nulls":6},"T",0.376,"T",0.376]
["02160816100201_XZ",112333463,10,"A","AT",7,"2;3","0;0","0;0","0;2","0;0","0;0",1,1,0,0,2,"Splice","AD","CORNELIA DE LANGE SYNDROME 3 (OMIM:610759)","SMC3","c.92-2A>T","NM_005445.3",null,"Splice","Splice",null,28.57,"NA","NA","NA","NA",{"$nulls":4},"T",{"$nulls":6},".",".",".","D",0.455,".","."]
["02160816100201_XZ",112335196,10,"A","AT",13,"2;6","0;0","2;0","3;0","0;0","0;0",0,1,0,1,2,"Unknown","AD","CORNELIA DE LANGE SYNDROME 3 (OMIM:610759)","SMC3","c.198+35A>T","NM_005445.3",null,null,"Intron",null,23.08,{"$nulls":8},"T"]
["02160816100201_XZ",112590810,10,"G","CC",401,"0;1","212;185","1;1","0;1","0;0","0;0",0,0,0,1,7439,"Unknown",null,"CARDIOMYOPATHY, DILATED, 1DD (OMIM:613172)","RBM20","c.3452-9G>C","NM_001134363.1",null,null,"Intron","rs7070640",99,{"$nulls":4},0.9696,1,"G",0.03035,"C",0.9696]
["02160816100201_XZ",113915575,10,"A","insA",31,"22;3","0;0","0;0","0;0","10;0","1;5",0,1,0,1,3279,"Unknown",null,"N/A","GPAM","c.2311+47_2311+48insT","NM_020918.5",null,null,"Intron","rs397789990,rs538569101,rs5787948",32.26,{"$nulls":8},"insT"]
["02160816100201_XZ",113923595,10,"C","CG",80,"1;0","17;29","10;23","0;0","0;0","0;0",0,0,0,1,5317,"Unknown",null,"N/A","GPAM","c.1308-21G>C","NM_020918.5",null,null,"Intron","rs10736219",41.25,{"$nulls":8},"C"]
["02160816100201_XZ",115805563,10,"T","-",24,"0;0","0;2","0;0","5;8","0;0","0;9",0,1,0,1,1841,"Unknown","N/A","N/A","ADRB1","-","NM_000684.2",null,null,"Intron",null,37.5,{"$nulls":8},"-"]
["02160816100201_XZ",121436362,10,"A","AG",550,"164;149","0;0","122;115","0;0","1;0","0;0",0,0,0,0,6540,"Synonymous","1.AD/2.AD","CARDIOMYOPATHY, DILATED, 1HH (OMIM:613881), MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)","BAG3","c.1296A>G","NM_004281.3","CDS4","p.V432V","Exon","rs196295",43.09,{"$nulls":4},0.7065,0.4881,"A",0.2935,"G",0.7065]
["02160816100201_XZ",124274462,10,"T","CC",145,"1;0","59;85","0;0","0;0","0;0","0;0",0,0,0,0,2192,"Unknown",null,"N/A","N/A","c.*549+38T>C",{"$nulls":3},"Intron","rs2736926",99.31,{"$nulls":6},"T",1.997E-4,"C",0.9998]
["02160816100201_XZ",126677266,10,"A","AT",55,"11;13","0;0","0;0","16;15","0;0","0;0",0,0,0,1,673,"Unknown",null,"N/A","CTBP2","c.*821T>A","NM_022802.2",null,null,"Intron","rs1058492",56.36,{"$nulls":8},"A"]
["02160816100201_XZ",135180430,10,"A","GG",209,"2;0","0;0","92;115","0;0","0;0","0;0",0,1,0,0,7964,"Synonymous","AR","MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDR... (OMIM:616277)","ECHS1","c.582T>C","NM_004092.3","CDS5","p.T194T","Exon","rs2230261",99.04,{"$nulls":8},"C"]
["02160816100201_XZ",2016619,11,"A","AG",204,"66;54","0;1","45;38","0;0","2;0","0;0",0,1,0,0,3599,"Unknown","1.AD/2.IC/3.AD/SMu","SILVER-RUSSELL SYNDROME (OMIM:180860), MULTIPLE TUMOR-ASSOCIATED CHROMOSOME REG... (OMIM:194071), BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)","H19","c.*1997+16891T>C","NR_002196.1",null,null,"Intron","rs3741219",40.69,{"$nulls":8},"C"]
["02160816100201_XZ",2151819,11,"A","insA",20,"10;8","0;0","0;0","0;0","4;1","2;0",0,0,0,0,2,"Unknown",null,"N/A","INS-IGF2","c.*169+16034_*169+16035insT","NM_001042376.2",null,null,"Intron",null,25,{"$nulls":8},"insT"]
["02160816100201_XZ",2153634,11,"T","CT",271,"0;0","64;84","1;0","50;72","0;0","0;0",0,1,0,0,67,"Unknown",null,"N/A","INS-IGF2","c.*169+14219A>G","NM_001042376.2",null,null,"Intron","rs680",54.61,{"$nulls":8},"G"]
["02160816100201_XZ",2182360,11,"T","CC",195,"0;0","103;91","0;0","0;1","0;0","0;0",0,1,0,1,138,"Unknown",null,"N/A","INS-IGF2","c.-18+38A>G","NM_001042376.2",null,null,"Intron","rs3842741",99.49,{"$nulls":8},"G"]
["02160816100201_XZ",2428313,11,"C","-",84,"0;0","32;24","0;0","0;0","0;0","19;9",0,0,0,1,1838,"Unknown",null,"N/A","TRPM5","-","NM_014555.3",null,null,"Intron","rs138931856,rs550020292,rs71464180,rs759411821",33.33,{"$nulls":8},"-"]
["02160816100201_XZ",2428334,11,"T","-",85,"0;0","1;0","0;0","34;22","0;0","19;9",0,0,0,0,1839,"Unknown",null,"N/A","TRPM5","-","NM_014555.3",null,null,"Intron","rs138931856,rs550020292,rs71464180,rs757942103,rs764771627,rs777425037",32.94,{"$nulls":8},"-"]
["02160816100201_XZ",2438940,11,"A","AC",55,"8;24","23;0","0;0","0;0","0;0","0;0",0,1,0,0,2376,"Unknown",null,"N/A","TRPM5","c.1009+17T>G","NM_014555.3",null,null,"Intron","rs745500103",41.82,{"$nulls":8},"G"]
["02160816100201_XZ",2632553,11,"C","GG",5,"0;0","0;0","1;4","0;0","0;0","0;0",1,0,0,1,1196,"Unknown",null,"SHORT QT SYNDROME 2 (OMIM:609621), JERVELL AND LANGE-NIELSEN SYNDROME (OMIM:220400), ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554), LONG QT SYNDROME 1 (OMIM:192500)","KCNQ1","c.1393+22469C>G","NM_000218.2",null,null,"Intron","rs1965606",100,{"$nulls":6},"C",0.2985,"G",0.7015]
["02160816100201_XZ",2640120,11,"T","AT",8,"0;2","0;0","0;0","4;2","0;0","0;0",1,1,0,0,1,"Unknown",null,"SHORT QT SYNDROME 2 (OMIM:609621), JERVELL AND LANGE-NIELSEN SYNDROME (OMIM:220400), ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554), LONG QT SYNDROME 1 (OMIM:192500)","KCNQ1","c.1393+30036T>A","NM_000218.2",null,null,"Intron",null,25,{"$nulls":8},"A"]
["02160816100201_XZ",2643084,11,"A","AG",15,"3;2","0;0","6;4","0;0","0;0","0;0",0,0,0,1,120,"Unknown",null,"SHORT QT SYNDROME 2 (OMIM:609621), JERVELL AND LANGE-NIELSEN SYNDROME (OMIM:220400), ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554), LONG QT SYNDROME 1 (OMIM:192500)","KCNQ1","c.1393+33000A>G","NM_000218.2",null,null,"Intron","rs11493163",66.67,{"$nulls":6},"G",0.1264,"G",0.1264]
["02160816100201_XZ",2648726,11,"C","TT",110,"0;0","0;0","0;0","45;65","0;0","0;0",0,0,0,0,1443,"Unknown",null,"SHORT QT SYNDROME 2 (OMIM:609621), JERVELL AND LANGE-NIELSEN SYNDROME (OMIM:220400), ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554), LONG QT SYNDROME 1 (OMIM:192500)","KCNQ1","c.1394-34465C>T","NM_000218.2",null,null,"Intron","rs11023536",100,{"$nulls":6},"C",0.1318,"T",0.8682]
["02160816100201_XZ",2653412,11,"C","AC",8,"0;4","4;0","0;0","0;0","0;0","0;0",1,1,0,0,543,"Unknown",null,"SHORT QT SYNDROME 2 (OMIM:609621), JERVELL AND LANGE-NIELSEN SYNDROME (OMIM:220400), ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554), LONG QT SYNDROME 1 (OMIM:192500)","KCNQ1","c.1394-29779C>A","NM_000218.2",null,null,"Intron",null,50,{"$nulls":8},"A"]
["02160816100201_XZ",2673575,11,"G","AA",145,"40;104","0;0","0;1","0;0","0;0","0;0",0,0,0,0,1669,"Unknown",null,"SHORT QT SYNDROME 2 (OMIM:609621), JERVELL AND LANGE-NIELSEN SYNDROME (OMIM:220400), ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554), LONG QT SYNDROME 1 (OMIM:192500)","KCNQ1","c.1394-9616G>A","NM_000218.2",null,null,"Intron","rs6578283",99.31,{"$nulls":6},"G",0.3421,"A",0.6579]
["02160816100201_XZ",2688526,11,"G","AA",282,"140;138","0;1","1;0","0;2","0;0","0;0",0,0,0,0,1620,"Unknown",null,"SHORT QT SYNDROME 2 (OMIM:609621), JERVELL AND LANGE-NIELSEN SYNDROME (OMIM:220400), ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554), LONG QT SYNDROME 1 (OMIM:192500)","KCNQ1","c.1514+5215G>A","NM_000218.2",null,null,"Intron","rs10832514",98.58,{"$nulls":6},"A",0.4477,"A",0.4477]
["02160816100201_XZ",2692333,11,"T","-",359,"0;0","0;0","0;0","3;4","0;0","191;161",0,0,0,0,1444,"Unknown",null,"SHORT QT SYNDROME 2 (OMIM:609621), JERVELL AND LANGE-NIELSEN SYNDROME (OMIM:220400), ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554), LONG QT SYNDROME 1 (OMIM:192500)","KCNQ1","-","NM_000218.2",null,null,"Intron",null,98.05,{"$nulls":8},"-"]
["02160816100201_XZ",2703706,11,"G","insGAGTGAGT",314,"0;0","0;0","159;154","0;0","110;113","1;0",0,0,0,0,1092,"Unknown",null,"SHORT QT SYNDROME 2 (OMIM:609621), JERVELL AND LANGE-NIELSEN SYNDROME (OMIM:220400), ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554), LONG QT SYNDROME 1 (OMIM:192500)","KCNQ1","c.1514+20426_1514+20427insGAGTGAGT","NM_000218.2",null,null,"Intron",null,71.02,{"$nulls":8},"insGAGTGAGT"]
["02160816100201_XZ",2720718,11,"G","delGGAGAGTGCCGCGCTGAGGAGCCCCCA",252,"0;0","0;0","26;14","0;0","0;0","93;119",0,0,0,0,992,"Unknown",null,"SHORT QT SYNDROME 2 (OMIM:609621), JERVELL AND LANGE-NIELSEN SYNDROME (OMIM:220400), ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554), LONG QT SYNDROME 1 (OMIM:192500)","KCNQ1","c.1514+37428_1514+37454delCCCCCAGGAGAGTGCCGCGCTGAGGAG","NM_000218.2",null,null,"Intron","rs562085347",84.13,{"$nulls":8},"delCCCCCAGGAGAGTGCCGCGCTGAGGAG"]
["02160816100201_XZ",2720724,11,"T","-",238,"0;0","3;0","3;0","13;7","0;0","93;119",0,0,0,0,1016,"Unknown",null,"SHORT QT SYNDROME 2 (OMIM:609621), JERVELL AND LANGE-NIELSEN SYNDROME (OMIM:220400), ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554), LONG QT SYNDROME 1 (OMIM:192500)","KCNQ1","-","NM_000218.2",null,null,"Intron",null,89.08,{"$nulls":8},"-"]
["02160816100201_XZ",2720912,11,"A","AG",262,"82;126","1;0","40;13","0;0","7;0","0;0",0,1,0,0,136,"Unknown",null,"SHORT QT SYNDROME 2 (OMIM:609621), JERVELL AND LANGE-NIELSEN SYNDROME (OMIM:220400), ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554), LONG QT SYNDROME 1 (OMIM:192500)","KCNQ1","c.1514+37601A>G","NM_000218.2",null,null,"Intron",null,20.23,{"$nulls":8},"G"]
["02160816100201_XZ",4104087,11,"T","CC",87,"0;0","49;38","0;0","0;0","0;0","0;0",0,0,0,0,7402,"Unknown","1.AR/2.NA/3.AD","STORMORKEN SYNDROME (OMIM:185070), IMMUNODEFICIENCY 10 (OMIM:612783), MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)","STIM1","c.1138-25T>C","NM_003156.3",null,null,"Intron","rs10767828",100,{"$nulls":4},0.6637,0.7758,"T",0.3363,"C",0.6637]
["02160816100201_XZ",6647931,11,"C","CT",466,"0;1","101;116","1;0","123;123","0;0","1;0",0,1,0,0,5179,"Unknown","AR","VAN MALDERGEM SYNDROME 1 (OMIM:601390)","DCHS1","c.6251-35G>A","NM_003737.2",null,null,"Intron","rs34782445",52.79,{"$nulls":8},"A"]
["02160816100201_XZ",10471792,11,"T","-",42,"0;0","0;0","1;0","5;0","0;0","31;5",0,0,0,0,637,"Unknown",null,"N/A","N/A","-",{"$nulls":3},"Intron",null,85.71,{"$nulls":8},"-"]
["02160816100201_XZ",10472493,11,"C","delC",18,"0;0","0;2","0;0","0;0","0;0","9;7",0,0,0,0,6419,"Unknown","NA","N/A","AMPD3","c.-335-4171delC","NM_001025389.1",null,null,"Intron","rs35417007,rs397849293,rs398075717",88.89,{"$nulls":8},"delC"]
["02160816100201_XZ",10476898,11,"T","CC",274,"2;0","108;162","1;0","1;0","0;0","0;0",0,0,0,0,1108,"Unknown","NA","N/A","AMPD3","c.-103T>C","NM_001025389.1",null,null,"Intron","rs899011",98.54,{"$nulls":6},"T",0.2823,"C",0.7177]
["02160816100201_XZ",17409572,11,"T","CT",358,"5;0","72;98","0;0","78;105","0;0","0;0",0,1,0,0,6814,"Nonsynonymous",null,"DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582), DIABETES MELLITUS, PERMANENT NEONATAL (OMIM:606176), MATURITY-ONSET DIABETES OF THE YOUNG, TY... (OMIM:616329), HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL,... (OMIM:601820)","KCNJ11","c.67A>G","NM_000525.3","CDS1","p.K23E","Exon","rs5219",47.49,0.7262,0.6206,0.6467,0.6401,{"$nulls":4},"G",null,"CM981121","NM_000525.3:c.67G-A","missense/nonsense","DFP","Diabetesmellitus 2, association with","T","B","B","P",-0.355,"drugresponse|Benign","Exercise_stress_response\\x2c_impaired\\x2c_association_with|Permanent_neonatal_diabetes_mellitus"]
["02160816100201_XZ",18301130,11,"G","AA",135,"80;54","0;0","1;0","0;0","0;0","0;0",0,0,0,0,96,"Unknown","N/A","N/A","SAA1","c.*122+9606G>A","NM_000331.4",null,null,"Intron","rs12419588",99.26,{"$nulls":6},"A",0.3562,"A",0.3562]
["02160816100201_XZ",22301411,11,"T","delT",55,"0;0","0;0","1;0","14;23","0;0","8;9",0,0,0,0,4025,"Unknown","1.AD/2.AR/3.AR","MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (OMIM:611307), GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)","ANO5","c.*113delT","NM_213599.2",null,null,"Intron","rs398015551,rs5790246,rs778938921,rs796159112",30.91,{"$nulls":8},"delT"]
["02160816100201_XZ",22302719,11,"A","delAA",9,"4;2","0;0","0;1","0;0","0;0","1;1",1,0,0,0,0,"Unknown","1.AD/2.AR/3.AR","MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (OMIM:611307), GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)","ANO5","c.*1409_*1410delAA","NM_213599.2",null,null,"Intron",null,22.22,{"$nulls":8},"delAA"]
["02160816100201_XZ",27721978,11,"T","GG",34,"0;0","0;0","8;26","0;0","0;0","0;0",0,1,0,0,2740,"Unknown","N/A","CENTRAL HYPOVENTILATION SYNDROME, CONGEN... (OMIM:209880), BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1 (OMIM:607499)","BDNF","c.-1085-40782A>C","NM_170735.5",null,null,"Intron","rs7930226",100,{"$nulls":8},"C"]
["02160816100201_XZ",31833850,11,"C","CG",44,"0;0","11;19","8;5","0;0","0;0","1;0",0,0,0,1,1448,"Unknown","AD/AR","OPTIC NERVE HYPOPLASIA, BILATERALOPTIC N... (OMIM:165550), COLOBOMA, OCULAR (OMIM:120200), ANIRIDIA (OMIM:106210), PETERS ANOMALY (OMIM:604229), KERATITIS, HEREDITARY (OMIM:148190), FOVEAL HYPOPLASIA AND PRESENILE CATARACT... (OMIM:136520), ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL ... (OMIM:206700), COLOBOMA OF OPTIC NERVEOPTIC NERVE HEAD ... (OMIM:120430)","PAX6","c.-555-949G>C","NM_000280.4",null,null,"Intron","rs2440247",29.55,{"$nulls":8},"C"]
["02160816100201_XZ",34493638,11,"A","AG",44,"9;11","0;0","11;12","1;0","0;0","0;0",0,0,0,1,457,"Unknown",null,"N/A","N/A","c.*627+31A>G",{"$nulls":3},"Intron","rs7104301",52.27,{"$nulls":6},"G",0.239,"G",0.239]
["02160816100201_XZ",47259668,11,"T","CT",327,"1;0","80;81","0;0","75;90","0;0","0;0",0,0,0,0,3575,"Unknown","AR","XERODERMA PIGMENTOSUM, COMPLEMENTATION G... (OMIM:278740)","DDB2","c.1189-21T>C","NM_000107.2",null,null,"Intron","rs326222",49.24,{"$nulls":4},0.4673,0.2232,"C",0.4673,"C",0.4673]
["02160816100201_XZ",47437289,11,"C","insC",326,"0;0","169;157","0;0","0;0","163;146","0;0",0,0,0,0,2820,"Unknown","AR","SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS S... (OMIM:612350)","SLC39A13","c.*376_*377insC","NM_152264.4",null,null,"Intron","rs11404182,rs397696692",94.79,{"$nulls":8},"insC"]
["02160816100201_XZ",61166306,11,"G","AA",49,"20;28","0;0","1;0","0;0","1;0","0;0",0,0,0,0,2062,"Unknown","AR","JOUBERT SYNDROME 2 (OMIM:608091), MECKEL SYNDROME, TYPE 2 (OMIM:603194)","TMEM216","c.*558G>A","NM_001173990.2",null,null,"Intron","rs7607",97.96,{"$nulls":6},"G",0.2804,"A",0.7196]
["02160816100201_XZ",62384869,11,"T","CC",116,"0;0","47;69","0;0","0;0","0;0","0;0",0,1,0,0,7928,"Unknown","1.AR","MULTIPLE JOINT DISLOCATIONS, SHORT STATU... (OMIM:245600)","B3GAT3","c.258-50A>G","NM_012200.3",null,null,"Intron","rs4963224",100,{"$nulls":8},"G"]
["02160816100201_XZ",65637984,11,"C","CG",493,"0;0","159;138","103;93","0;0","0;1","0;0",0,0,0,0,3298,"splicing","AR","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)","EFEMP2","c.490+23G>C","NM_016938.4",null,null,"Intron","rs630394",39.76,{"$nulls":8},"C",null,"CS158136","null","splicing","DM","Aorticaneurysm"]
["02160816100201_XZ",65771056,11,"A","-",133,"41;27","0;0","0;0","0;0","0;0","39;26",0,0,0,0,4787,"Unknown","1.AR","NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)","BANF1","-","NM_001143985.1",null,null,"Intron","rs147010511,rs56984820,rs763434920,rs764369557",48.87,{"$nulls":8},"-"]
["02160816100201_XZ",67257823,11,"C","AA",271,"130;140","1;0","0;0","0;0","0;0","0;0",0,0,0,0,7294,"Nonsynonymous",null,"PITUITARY ADENOMA, GROWTH HORMONE-SECRET... (OMIM:102200), PITUITARY ADENOMA, PROLACTIN-SECRETING (OMIM:600634), PITUITARY ADENOMA, ACTH-SECRETING (OMIM:219090)","AIP","c.682C>A","NM_003977.2","CDS5","p.Q228K","Exon","rs641081",99.63,0.8832,1,0.9538,1,0.8454,1,"C",0.1546,"A",0.8454,"CM157185","NM_003977.3:c.682A-C","missense/nonsense","DP","Pituitaryadenoma, susceptibility to","T","B","B","P",-0.31,".","."]
["02160816100201_XZ",68216756,11,"C","CT",92,"0;0","23;20","0;0","31;18","0;0","0;0",0,0,0,0,1967,"Unknown",null,"N/A","N/A","c.*205+13C>T",{"$nulls":3},"Intron","rs2291467",53.26,{"$nulls":6},"T",0.1749,"T",0.1749]
["02160816100201_XZ",68671281,11,"C","insCCGCCGCCATCTTC",87,"0;0","48;39","0;0","0;0","13;12","0;0",0,1,0,0,3008,"Unknown","N/A","N/A","MRPL21","c.-3_-2insGAAGATGGCGGCGG","NM_181514.1",null,null,"Intron","rs111612765,rs58747104",28.74,{"$nulls":8},"insGAAGATGGCGGCGG"]
["02160816100201_XZ",70053150,11,"T","GT",117,"0;0","0;0","1;32","48;36","0;0","0;0",0,1,0,0,671,"Unknown","1.AR","INFECTIONS, RECURRENT, WITH ENCEPHALOPAT... (OMIM:613759)","FADD","c.*571T>G","NM_003824.3",null,null,"Intron","rs985019405",28.21,{"$nulls":8},"G"]
["02160816100201_XZ",71146259,11,"A","-",257,"63;64","0;0","0;0","0;0","0;0","55;75",0,0,0,0,3533,"Unknown","AR","SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)","DHCR7","-","NM_001360.2",null,null,"Intron",null,50.58,{"$nulls":8},"-"]
["02160816100201_XZ",74166859,11,"A","GG",5,"0;0","0;0","0;5","0;0","0;0","0;0",1,1,0,0,966,"Unknown",null,"BRUGADA SYNDROME 6 (OMIM:613119)","KCNE3","c.*1438T>C","NM_005472.4",null,null,"Intron","rs35833816",100,{"$nulls":8},"C"]
["02160816100201_XZ",76836665,11,"T","-",88,"0;0","0;0","0;0","10;15","0;0","30;33",0,0,0,0,463,"Unknown","1.NA","VITREORETINOPATHY, NEOVASCULAR INFLAMMAT... (OMIM:193235)","CAPN5","-","NM_004055.4",null,null,"Intron",null,71.59,{"$nulls":8},"-"]
["02160816100201_XZ",76895774,11,"G","-",331,"0;0","0;1","0;2","0;0","0;0","146;182",0,0,0,0,4514,"Unknown","1.AD/2.AR/3.AR","DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESS... (OMIM:600060), USHER SYNDROME, TYPE I (OMIM:276900), DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:601317)","MYO7A","-","NM_000260.3",null,null,"Intron",null,99.09,{"$nulls":8},"-"]
["02160816100201_XZ",76895790,11,"C","-",334,"0;0","0;4","1;0","0;2","0;0","145;182",0,0,0,0,4520,"Unknown","1.AD/2.AR/3.AR","DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESS... (OMIM:600060), USHER SYNDROME, TYPE I (OMIM:276900), DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:601317)","MYO7A","-","NM_000260.3",null,null,"Intron",null,97.9,{"$nulls":8},"-"]
["02160816100201_XZ",77327144,11,"T","delT",8,"0;0","0;0","0;0","3;0","0;0","3;2",1,0,0,0,29,"Unknown",null,"N/A","N/A","c.*567+47delT",{"$nulls":3},"Intron","rs60952853,rs796615031",62.5,{"$nulls":8},"delT"]
["02160816100201_XZ",94152631,11,"G","AG",35,"1;7","0;0","17;10","0;0","0;0","0;0",0,1,0,0,272,"Unknown",null,"ATAXIA-TELANGIECTASIA-LIKE DISORDER (OMIM:604391)","MRE11A","c.*660C>T","NM_005591.3",null,null,"Intron","rs591959",22.86,{"$nulls":8},"T"]
["02160816100201_XZ",103022843,11,"T","insTT",12,"0;0","0;0","0;0","9;3","7;3","0;0",0,1,0,0,5698,"Unknown","AR/DR（NEK1）","SHORT-RIB THORACIC DYSPLASIA 3 WITH OR W... (OMIM:613091)","DYNC2H1","c.2947-10_2947-9insTT","NM_001080463.1",null,null,"Intron","rs10664799,rs397824395",83.33,{"$nulls":8},"insTT"]
["02160816100201_XZ",103091546,11,"G","AA",32,"3;28","0;0","1;0","0;0","0;0","0;0",0,0,0,1,7379,"Unknown","AR/DR（NEK1）","SHORT-RIB THORACIC DYSPLASIA 3 WITH OR W... (OMIM:613091)","DYNC2H1","c.9107+34G>A","NM_001080463.1",null,null,"Intron","rs670464",96.88,{"$nulls":6},"G",0.07907,"A",0.9209]
["02160816100201_XZ",103780000,11,"A","AC",13,"7;3","0;3","0;0","0;0","0;0","0;0",0,1,0,1,0,"Unknown",null,"N/A","PDGFD","c.*422T>G","NM_025208.4",null,null,"Intron",null,23.08,{"$nulls":8},"G"]
["02160816100201_XZ",108195977,11,"T","delT",12,"0;0","0;0","0;1","5;0","0;0","2;4",0,0,0,0,3037,"Unknown","1.AR/2.3.4.NA/5.AD","BREAST CANCER (OMIM:114480), ATAXIA-TELANGIECTASIA (OMIM:208900)","ATM","c.6573-42delT","NM_000051.3",null,null,"Intron","rs11366542,rs749468262,rs772005311,rs779226100,rs878892909,rs879224769",50,{"$nulls":8},"delT"]
["02160816100201_XZ",111966131,11,"T","delTT",15,"0;0","0;0","0;0","6;4","0;0","5;0",0,1,0,0,0,"Unknown","3.AR","MITOCHONDRIAL COMPLEX II DEFICIENCY (OMIM:252011), CARCINOID TUMORS, INTESTINAL (OMIM:114900), COWDEN SYNDROME 3 (OMIM:615106), PARAGANGLIOMAS 1 (OMIM:168000), CARNEY-STRATAKIS SYNDROME (OMIM:606864), PHEOCHROMOCYTOMA (OMIM:171300)","SDHD","c.*439_*440delTT","NM_003002.3",null,null,"Intron",null,33.33,{"$nulls":8},"delTT"]
["02160816100201_XZ",118016068,11,"C","CT",375,"1;0","103;104","0;0","71;96","0;0","0;0",0,1,0,1,4965,"Unknown","1.AD/2.AD","LONG QT SYNDROME 10 (OMIM:611819)","SCN4B","c.62-124G>A","NM_174934.3",null,null,"Intron","rs1793137",44.53,{"$nulls":8},"A"]
["02160816100201_XZ",118901262,11,"C","TT",139,"0;0","0;0","2;0","92;45","0;0","0;0",0,1,0,0,3444,"Unknown","1.AR/2.AR","GLYCOGEN STORAGE DISEASE IC (OMIM:232240), GLYCOGEN STORAGE DISEASE IB (OMIM:232220)","SLC37A4","c.-516G>A","NM_001164277.1",null,null,"Intron","rs3759012",98.56,{"$nulls":8},"A"]
["02160816100201_XZ",119175075,11,"C","AC",337,"70;58","109;100","0;0","0;0","0;0","0;0",0,0,0,0,1183,"Unknown","AD","NOONAN SYNDROME-LIKE DISORDER WITH OR WI... (OMIM:613563)","CBL","c.*4584C>A","NM_005188.3",null,null,"Intron","rs2509671",37.98,{"$nulls":6},"A",0.3968,"A",0.3968]
["02160816100201_XZ",119178799,11,"T","GT",11,"0;0","0;0","3;0","5;3","0;0","0;0",0,1,0,0,1,"Unknown","AD","NOONAN SYNDROME-LIKE DISORDER WITH OR WI... (OMIM:613563)","CBL","c.*8308T>G","NM_005188.3",null,null,"Intron",null,27.27,{"$nulls":8},"G"]
["02160816100201_XZ",122684468,11,"A","TT",49,"1;0","0;0","0;0","15;33","0;0","0;0",0,0,0,1,673,"Unknown",null,"N/A","UBASH3B","c.*3874A>T","NM_032873.4",null,null,"Intron","rs3134439",97.96,{"$nulls":6},"A",0.004393,"T",0.9956]
["02160816100201_XZ",123502821,11,"A","AG",197,"42;55","1;0","47;52","0;0","0;0","0;0",0,1,0,0,487,"Unknown","1.AD/2.AD","BRUGADA SYNDROME 7 (OMIM:613120)","SCN3B","c.*1686T>C","NM_018400.3",null,null,"Intron","rs41497645",50.25,{"$nulls":8},"C"]
["02160816100201_XZ",126139313,11,"T","AA",394,"162;229","2;0","0;0","0;1","0;0","0;0",0,0,0,0,8331,"Unknown","1.AR/2.NA","LEIGH SYNDROME (OMIM:256000), MITOCHONDRIAL COMPLEX I DEFICIENCY (OMIM:252010)","FOXRED1","c.85+127T>A","NM_017547.3",null,null,"Intron","rs1786703",99.24,{"$nulls":4},0.7861,0.996,"T",0.2139,"A",0.7861]
["02160816100201_XZ",128328913,11,"G","AA",8,"5;2","0;0","0;1","0;0","0;0","0;0",1,1,0,0,229,"Unknown",null,"N/A","ETS1","c.*3343C>T","NM_001143820.1",null,null,"Intron","rs8705",87.5,{"$nulls":8},"T"]
["02160816100201_XZ",128708344,11,"T","CT",169,"0;0","45;38","2;0","42;42","0;0","0;0",0,1,0,0,488,"Unknown",null,"BARTTER SYNDROME, ANTENATAL, TYPE 2 (OMIM:241200)","KCNJ1","c.*676A>G","NM_000220.4",null,null,"Intron","rs673992",49.11,{"$nulls":8},"G"]
["02160816100201_XZ",128782002,11,"T","CC",415,"0;0","177;235","0;0","0;2","0;0","1;0",0,0,0,0,7216,"Synonymous",null,"HYPERALDOSTERONISM, FAMILIAL, TYPE III (OMIM:613677), LONG QT SYNDROME 13 (OMIM:613485)","KCNJ5","c.834T>C","NM_000890.3","CDS1","p.H278H","Exon","rs7118833",99.28,{"$nulls":4},0.867,0.876,"T",0.133,"C",0.867]
["02160816100201_XZ",130746499,11,"G","-",272,"0;1","0;0","10;15","0;1","0;0","145;100",0,0,0,0,720,"Unknown","N/A","N/A","SNX19","-","NM_014758.2",null,null,"Intron",null,90.07,{"$nulls":8},"-"]
["02160816100201_XZ",130785475,11,"G","AG",297,"69;64","0;1","84;79","0;0","3;0","0;0",0,1,0,0,867,"Synonymous","N/A","N/A","SNX19","c.360C>T","NM_014758.2","CDS1","p.S120S","Exon","rs116957702",44.78,{"$nulls":8},"T"]
["02160816100201_XZ",863517,12,"G","AA",319,"109;210","0;0","0;0","0;0","0;0","0;0",0,0,0,0,7811,"Unknown","1.AR/2.AD","PSEUDOHYPOALDOSTERONISM, TYPE IIC (OMIM:614492), NEUROPATHY, HEREDITARY SENSORY AND AUTON... (OMIM:201300)","WNK1","c.759+27G>A","NM_018979.3",null,null,"Intron","rs3858703",100,{"$nulls":4},0.6362,0.877,"G",0.3638,"A",0.6362]
["02160816100201_XZ",974404,12,"T","CC",288,"1;1","125;160","0;0","0;1","0;0","0;0",0,0,0,0,6720,"Unknown","1.AR/2.AD","PSEUDOHYPOALDOSTERONISM, TYPE IIC (OMIM:614492), NEUROPATHY, HEREDITARY SENSORY AND AUTON... (OMIM:201300)","WNK1","c.2139+2968T>C","NM_018979.3",null,null,"Intron","rs7300829",98.96,{"$nulls":4},0.654,0.629,"T",0.346,"C",0.654]
["02160816100201_XZ",1901324,12,"C","CG",222,"0;0","56;54","54;58","0;0","0;0","0;0",0,0,0,0,12,"Unknown","1.NA","RETINAL CONE DYSTROPHY 4 (OMIM:610478)","CACNA2D4","c.*1497G>C","NM_172364.4",null,null,"Intron","rs188409584",50.45,{"$nulls":8},"C"]
["02160816100201_XZ",2162369,12,"G","AG",73,"24;4","0;0","30;13","0;2","0;0","0;0",0,0,0,0,20,"Unknown","1.NA/2.NA","BRUGADA SYNDROME 3 (OMIM:611875), TIMOTHY SYNDROME (OMIM:601005)","CACNA1C","c.-313-47G>A","NM_000719.6",null,null,"Intron","rs11062091",38.36,{"$nulls":6},"A",0.1482,"A",0.1482]
["02160816100201_XZ",4479549,12,"G","AG",440,"89;123","0;1","97;130","0;0","0;0","0;0",0,1,0,0,2237,"Nonsynonymous","1.AD/2.NA/3.AD","TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, F... (OMIM:211900), HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMI... (OMIM:193100)","FGF23","c.716C>T","NM_020638.2","CDS3","p.T239M","Exon","rs7955866",48.18,0.1378,0.1678,0.1234,0.1984,{"$nulls":4},"T",null,"CM123510","NM_020638.2:c.716C-T","missense/nonsense","DFP","Calciumnephrolithiasis with renal phosphate leak, association with","T","B","B","P",0.549,".","."]
["02160816100201_XZ",5025094,12,"T","CC",359,"0;2","174;180","0;0","3;0","0;0","0;0",0,0,0,0,1801,"Unknown",null,"EPISODIC ATAXIA, TYPE 1 (OMIM:160120)","KCNA1","c.*3062T>C","NM_000217.2",null,null,"Intron","rs10849174",98.61,{"$nulls":6},"C",0.499,"C",0.499]
["02160816100201_XZ",6091164,12,"G","AA",80,"32;48","0;0","0;0","0;0","0;0","0;0",0,1,0,0,5236,"Unknown","1.AD/2.AD/3.AR","VON WILLEBRAND DISEASE, TYPE 2 (OMIM:613554), VON WILLEBRAND DISEASE, RECESSIVE FORM (OMIM:277480), VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)","VWF","c.7082-7C>T","NM_000552.3",null,null,"Intron","rs216868",100,{"$nulls":8},"T"]
["02160816100201_XZ",6172202,12,"T","CC",153,"0;0","67;86","0;0","0;0","0;0","0;0",0,1,0,0,6514,"Nonsynonymous","1.AD/2.AD/3.AR","VON WILLEBRAND DISEASE, TYPE 2 (OMIM:613554), VON WILLEBRAND DISEASE, RECESSIVE FORM (OMIM:277480), VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)","VWF","c.1451A>G","NM_000552.3","CDS12","p.H484R","Exon","rs1800378",100,0.5224,0.6538,0.618,0.7081,{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-0.333,".","."]
["02160816100201_XZ",6977275,12,"T","CT",179,"0;0","78;21","0;0","63;17","0;0","0;0",0,0,0,0,3643,"Unknown","AR","TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)","TPI1","c.115+430T>C","NM_000365.5",null,null,"Intron","rs2071066",55.31,{"$nulls":6},"C",0.4876,"C",0.4876]
["02160816100201_XZ",11138861,12,"C","CG",140,"0;0","28;23","46;43","0;0","0;0","0;0",0,0,0,0,533,"Nonsynonymous","N/A","N/A","TAS2R50","c.599G>C","NM_176890.2","CDS1","p.C200S","Exon","rs77580816",63.57,0.0046,0.0175,0.0021,0.0253,{"$nulls":4},"C",{"$nulls":6},"T","B","B","N",-2.281,".","."]
["02160816100201_XZ",20522126,12,"T","-",34,"0;0","0;0","0;0","18;1","0;0","14;1",0,1,0,0,2909,"Unknown",null,"N/A","N/A","-",{"$nulls":3},"Intron",null,44.12,{"$nulls":8},"-"]
["02160816100201_XZ",21713402,12,"T","CC",73,"0;1","28;44","0;0","0;0","0;0","0;0",0,1,0,1,7148,"Nonsynonymous","AR","GLYCOGEN STORAGE DISEASE 0, LIVER (OMIM:240600)","GYS2","c.1087A>G","NM_021957.3","CDS8","p.M363V","Exon","rs2306180",98.63,0.7527,0.771,0.7684,0.7505,{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-0.213,".","."]
["02160816100201_XZ",22047151,12,"G","TT",95,"0;0","0;0","0;0","26;69","0;0","0;0",0,1,0,0,7544,"Unknown",null,"ATRIAL FIBRILLATION, FAMILIAL, 12 (OMIM:614050), CARDIOMYOPATHY, DILATED, 1O (OMIM:608569), HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA (OMIM:239850)","ABCC9","c.1660-43C>A","NM_005691.2",null,null,"Intron","rs704216",100,{"$nulls":8},"A"]
["02160816100201_XZ",25359465,12,"A","delA",89,"0;1","0;0","0;0","5;0","0;0","55;28",0,0,0,0,1795,"Unknown",null,"BREAST CANCER (OMIM:114480), BLADDER CANCER (OMIM:109800), CARDIOFACIOCUTANEOUS SYNDROME 2 (OMIM:615278), LUNG CANCERALVEOLAR CELL CARCINOMA, INCL... (OMIM:211980), PANCREATIC CANCER (OMIM:260350), NOONAN SYNDROME 3 (OMIM:609942), GASTRIC CANCER, HEREDITARY DIFFUSE (OMIM:137215), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)","KRAS","c.*3264delT","NM_004985.3",null,null,"Intron","rs34176876",93.26,{"$nulls":8},"delT"]
["02160816100201_XZ",31226835,12,"T","AT",256,"70;58","0;0","0;0","75;53","0;0","0;0",0,0,0,0,1686,"Unknown",null,"WARSAW BREAKAGE SYNDROME (OMIM:613398)","DDX11","c.-195T>A","NM_030653.3",null,null,"Intron","rs7953706",50,{"$nulls":6},"T",0.3734,"A",0.6266]
["02160816100201_XZ",31247480,12,"T","GG",157,"0;0","0;0","80;76","1;0","0;0","0;0",0,0,0,0,3933,"Unknown",null,"WARSAW BREAKAGE SYNDROME (OMIM:613398)","DDX11","c.1370-44T>G","NM_030653.3",null,null,"Intron","rs12816960",99.36,{"$nulls":4},0.6332,0.8095,"T",0.3668,"G",0.6332]
["02160816100201_XZ",31256546,12,"G","AA",178,"97;79","0;0","1;0","0;0","0;0","0;1",0,0,0,0,3967,"Nonsynonymous",null,"WARSAW BREAKAGE SYNDROME (OMIM:613398)","DDX11","c.2572G>A","NM_030653.3","CDS25","p.V858I","Exon","rs1046457",98.88,0.5334,0.7395,0.5139,0.7983,0.6342,0.8075,"G",0.3658,"A",0.6342,{"$nulls":5},"T","B","B","P",-0.707,".","."]
["02160816100201_XZ",49412918,12,"A","AG",300,"92;97","0;0","55;56","0;0","0;0","0;0",0,1,0,0,5,"Unknown",null,"N/A","PRKAG1","c.-106-289T>C","NM_001206709.1",null,null,"Intron","rs185652670",37,{"$nulls":8},"C"]
["02160816100201_XZ",49414212,12,"A","AC",14,"2;9","3;0","0;0","0;0","0;0","0;0",0,1,0,0,0,"Unknown",null,"KABUKI SYNDROME 1 (OMIM:147920)","KMT2D","c.*1351T>G","NM_003482.3",null,null,"Intron",null,21.43,{"$nulls":8},"G"]
["02160816100201_XZ",50473660,12,"A","GG",243,"0;0","0;0","146;97","0;0","0;0","0;0",0,0,0,1,3007,"Unknown",null,"N/A","ASIC1","c.1052-25A>G","NM_020039.3",null,null,"Intron","rs404751",100,{"$nulls":4},0.9261,0.8512,"A",0.07388,"G",0.9261]
["02160816100201_XZ",52182545,12,"A","AG",242,"58;78","0;0","45;61","0;0","0;0","0;0",0,0,0,0,4972,"Unknown","1.AD/2.AD","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:614558), COGNITIVE IMPAIRMENT WITH OR WITHOUT CER... (OMIM:614306)","SCN8A","c.4281+13A>G","NM_014191.3",null,null,"Intron","rs9943809",43.8,{"$nulls":4},0.1601,0.3641,"G",0.1601,"G",0.1601]
["02160816100201_XZ",52314723,12,"T","GT",41,"1;0","0;0","0;9","21;10","0;0","0;0",0,1,0,0,6658,"Unknown",null,"TELANGIECTASIA, HEREDITARY HEMORRHAGIC, ... (OMIM:600376)","ACVRL1","c.*46T>G","NM_000020.2",null,null,"Intron","rs763282018",21.95,{"$nulls":8},"G"]
["02160816100201_XZ",53343493,12,"G","AG",476,"124;134","1;0","106;111","0;0","0;0","0;0",0,1,0,0,393,"Unknown",null,"CIRRHOSIS, FAMILIALCIRRHOSIS, FAMILIAL, ... (OMIM:215600)","KRT8","c.-103-44625C>T","NM_002273.3",null,null,"Intron","rs1492241",54.2,{"$nulls":8},"T"]
["02160816100201_XZ",57442139,12,"A","AG",289,"68;92","0;0","52;77","0;0","0;0","0;0",0,1,0,0,2531,"Unknown","AD","DEAFNESS, AUTOSOMAL DOMINANT 48 (OMIM:607841)","MYO1A","c.-20-12T>C","NM_005379.3",null,null,"Intron","rs2270737",44.64,{"$nulls":8},"C"]
["02160816100201_XZ",57590869,12,"T","CC",217,"0;0","129;88","0;0","0;0","0;0","0;0",0,0,0,0,7045,"Synonymous","N/A","N/A","LRP1","c.8997T>C","NM_002332.2","CDS56","p.T2999T","Exon","rs7308698",100,{"$nulls":6},"T",0.01538,"C",0.9846]
["02160816100201_XZ",57607138,12,"A","AG",12,"3;4","0;0","5;0","0;0","0;0","0;0",0,1,0,0,1,"Unknown","N/A","N/A","LRP1","c.*800A>G","NM_002332.2",null,null,"Intron",null,41.67,{"$nulls":8},"G"]
["02160816100201_XZ",65107769,12,"T","CT",6,"0;0","0;2","0;0","3;1","0;0","0;0",1,1,0,1,2,"Unknown","1.AR","MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)","GNS","c.*2752A>G","NM_002076.3",null,null,"Intron",null,33.33,{"$nulls":8},"G"]
["02160816100201_XZ",66786073,12,"A","GG",240,"0;2","0;0","150;88","0;0","0;0","0;0",0,1,0,0,7640,"Unknown","AR","FRASER SYNDROME (OMIM:219000)","GRIP1","c.2308+15T>C","NM_021150.3",null,null,"Intron","rs7970076",99.17,{"$nulls":8},"C"]
["02160816100201_XZ",69747294,12,"A","AT",15,"1;8","0;0","0;0","4;2","0;0","0;0",0,0,0,0,761,"Unknown",null,"AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)","LYZ","c.*295A>T","NM_000239.2",null,null,"Intron",null,40,{"$nulls":8},"T"]
["02160816100201_XZ",70825287,12,"T","insT",14,"0;0","0;0","0;0","2;10","0;3","2;0",0,1,0,1,216,"Unknown",null,"N/A","KCNMB4","c.*868_*869insT","NM_014505.5",null,null,"Intron","rs373048901,rs397968247",21.43,{"$nulls":8},"insT"]
["02160816100201_XZ",88496838,12,"C","GG",56,"1;0","0;0","17;37","1;0","0;0","0;0",0,1,0,0,8230,"Unknown","1.2.AR/3.NA/4.5.AR","JOUBERT SYNDROME 5 (OMIM:610188), BARDET-BIEDL SYNDROME 14 (OMIM:615991), LEBER CONGENITAL AMAUROSIS 10 (OMIM:611755), SENIOR-LOKEN SYNDROME 6 (OMIM:610189), MECKEL SYNDROME, TYPE 4 (OMIM:611134)","CEP290","c.2818-50G>C","NM_025114.3",null,null,"Intron","rs2471532",96.43,{"$nulls":8},"C"]
["02160816100201_XZ",88525043,12,"C","insA,GG",2,"0;0","0;0","2;0","0;0","2;0","0;0",1,1,0,1,0,"Unknown","1.2.AR/3.NA/4.5.AR","JOUBERT SYNDROME 5 (OMIM:610188), BARDET-BIEDL SYNDROME 14 (OMIM:615991), LEBER CONGENITAL AMAUROSIS 10 (OMIM:611755), SENIOR-LOKEN SYNDROME 6 (OMIM:610189), MECKEL SYNDROME, TYPE 4 (OMIM:611134)","CEP290","c.442-48_442-47insT,c.442-48G>C","NM_025114.3",null,null,"Intron",null,"100.00,100.00",{"$nulls":8},"C"]
["02160816100201_XZ",95910846,12,"G","GT",33,"0;0","0;0","9;15","3;6","0;0","0;0",0,1,0,1,76,"Unknown",null,"N/A","USP44","c.*1084C>A","NM_032147.3",null,null,"Intron","rs301025",27.27,{"$nulls":8},"A"]
["02160816100201_XZ",96384122,12,"T","CT",238,"0;0","67;43","0;0","86;42","0;0","0;0",0,1,0,0,4131,"Unknown","AR","N/A","HAL","c.855+49A>G","NM_002108.3",null,null,"Intron","rs60881496",46.22,{"$nulls":8},"G"]
["02160816100201_XZ",102140051,12,"C","insCT",107,"0;0","51;54","0;0","0;2","20;22","0;0",0,0,0,0,586,"Unknown","1.AR/2.AR","MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500), MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)","GNPTAB","c.*891_*892insAG","NM_024312.4",null,null,"Intron","rs59855215,rs72065225",39.25,{"$nulls":8},"insAG"]
["02160816100201_XZ",102224493,12,"C","-",59,"0;0","6;11","0;0","0;0","0;0","8;34",0,0,0,1,7394,"Unknown","1.AR/2.AR","MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500), MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)","GNPTAB","-","NM_024312.4",null,null,"Intron",null,71.19,{"$nulls":8},"-"]
["02160816100201_XZ",109888592,12,"C","CT",513,"1;0","127;127","0;0","147;111","0;0","0;0",0,1,0,1,77,"Unknown",null,"N/A","KCTD10","c.*808G>A","NM_031954.3",null,null,"Intron","rs7295954",50.29,{"$nulls":8},"A"]
["02160816100201_XZ",111885354,12,"G","-",80,"0;0","0;0","14;15","0;0","0;0","50;1",0,1,0,0,7280,"Unknown","NA","MYELOFIBROSISMYELOFIBROSIS WITH MYELOID ... (OMIM:254450), ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100), THROMBOCYTHEMIA, ESSENTIAL (OMIM:187950)","SH2B3","-","NM_005475.2",null,null,"Intron",null,63.75,{"$nulls":8},"-"]
["02160816100201_XZ",111895203,12,"C","GG",173,"0;0","0;0","50;123","0;0","0;0","0;0",0,1,0,1,7873,"Unknown","1.2.AD/3.IC/","SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)","ATXN2","c.3371-40G>C","NM_002973.3",null,null,"Intron","rs2301622",100,{"$nulls":8},"C"]
["02160816100201_XZ",112599062,12,"G","insGCACTGGG",244,"0;0","0;0","100;144","0;0","72;101","0;0",0,0,0,0,85,"Unknown",null,"N/A","HECTD4","c.*1129_*1130insCCCAGTGC","NM_001109662.3",null,null,"Intron","rs201860636,rs3215349",70.9,{"$nulls":8},"insCCCAGTGC"]
["02160816100201_XZ",112605611,12,"T","CC",111,"0;0","67;44","0;0","0;0","0;0","0;0",0,1,0,0,879,"Unknown",null,"N/A","HECTD4","c.11910+7A>G","NM_001109662.3",null,null,"Intron","rs2242496",100,{"$nulls":8},"G"]
["02160816100201_XZ",114793240,12,"C","CT",98,"0;0","26;15","1;0","28;28","0;0","0;0",0,1,0,0,4665,"Unknown","1.AD","HOLT-ORAM SYNDROME (OMIM:142900)","TBX5","c.*97G>A","NM_000192.3",null,null,"Intron","rs883079",57.14,0.6053,0.4353,0.574,0.5719,{"$nulls":4},"A",{"$nulls":6},"T",".",".","P",-0.15,".","."]
["02160816100201_XZ",116397088,12,"A","TT",12,"0;1","0;0","0;0","5;6","0;0","0;0",0,1,0,0,179,"Unknown",null,"TRANSPOSITION OF THE GREAT ARTERIES, DEX... (OMIM:608808)","MED13L","c.*1983T>A","NM_015335.4",null,null,"Intron","rs12423578",91.67,{"$nulls":8},"A"]
["02160816100201_XZ",121435427,12,"G","AG",144,"32;40","0;0","26;46","0;0","0;0","0;0",0,0,0,0,5728,"Nonsynonymous","AD","RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700), DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (OMIM:612520), MATURITY-ONSET DIABETES OF THE YOUNG, TY... (OMIM:600496), HEPATIC ADENOMAS, FAMILIAL (OMIM:142330)","HNF1A","c.1460G>A","NM_000545.5","CDS7","p.S487N","Exon","rs2464196",50,0.3274,0.5175,0.3312,0.4999,0.3177,0.4732,"A",0.3177,"A",0.3177,"CM067474","NM_000545.5:c.1460G-A","missense/nonsense","DP","Cadiovasculardisease, increased risk, association with","T","B","B","P",0.655,"Likelybenign|Benign","not_specified|not_provided"]
["02160816100201_XZ",121622886,12,"C","AA",112,"67;31","5;7","0;0","0;0","7;0","1;1",0,0,0,0,1131,"Unknown","N/A","N/A","P2RX7","c.*281C>A","NM_002562.5",null,null,"Intron","rs1718106",87.5,{"$nulls":8},"A"]
["02160816100201_XZ",123186610,12,"G","AG",301,"44;18","0;0","135;104","0;0","0;0","0;0",0,1,0,1,2360,"Unknown",null,"N/A","HCAR2","c.*129C>T","NM_177551.3",null,null,"Intron","rs579877",20.6,{"$nulls":8},"T"]
["02160816100201_XZ",123779181,12,"C","AC",23,"0;5","7;11","0;0","0;0","0;0","0;0",0,1,0,0,119,"Unknown","N/A","N/A","SBNO1","c.*1274G>T","NM_001167856.1",null,null,"Intron",null,21.74,{"$nulls":8},"T"]
["02160816100201_XZ",124229429,12,"T","CC",492,"0;0","221;263","2;0","4;1","4;0","0;1",0,0,0,0,8105,"Synonymous","1.2.AR","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II... (OMIM:219200), WRINKLY SKIN SYNDROME (OMIM:278250)","ATP6V0A2","c.1515T>C","NM_012463.3","CDS13","p.N505N","Exon","rs7135542",98.37,{"$nulls":4},0.7995,0.9504,"T",0.2005,"C",0.7995]
["02160816100201_XZ",125298877,12,"G","AG",396,"99;108","0;0","91;98","0;0","0;0","0;0",0,1,0,0,4807,"Synonymous",null,"N/A","SCARB1","c.501C>T","NM_005505.4","CDS4","p.G167G","Exon","rs5889",52.27,{"$nulls":8},"T"]
["02160816100201_XZ",133210985,12,"C","TT",245,"0;0","1;0","0;0","97;147","0;0","0;0",0,1,0,1,6661,"Unknown","N/A","FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LI... (OMIM:615139), COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 (OMIM:615083)","POLE","c.5812-21G>A","NM_006231.2",null,null,"Intron","rs5745005",99.59,{"$nulls":8},"A"]
["02160816100201_XZ",133257887,12,"C","CT",231,"0;0","48;75","0;0","35;73","0;0","0;0",0,1,0,0,1412,"Unknown","N/A","FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LI... (OMIM:615139), COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 (OMIM:615083)","POLE","c.63-22G>A","NM_006231.2",null,null,"Intron","rs5744733",46.75,{"$nulls":8},"A"]
["02160816100201_XZ",20806445,13,"T","CC",35,"0;0","24;10","1;0","0;0","0;0","0;0",0,1,0,0,235,"Unknown","略","DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290), DEAFNESS, AUTOSOMAL RECESSIVE 1B (OMIM:612645), DEAFNESS, AUTOSOMAL DOMINANT 3B (OMIM:612643), CLOUSTON SYNDROME (OMIM:129500)","GJB6","c.-553-1073A>G","NM_006783.4",null,null,"Intron","rs117298539",97.14,{"$nulls":8},"G"]
["02160816100201_XZ",23905711,13,"A","AG",125,"35;49","0;0","20;21","0;0","0;0","0;0",0,1,0,0,5584,"Synonymous",null,"SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)","SACS","c.12304T>C","NM_014363.5","CDS9","p.L4102L","Exon","rs2737699",32.8,{"$nulls":8},"C"]
["02160816100201_XZ",28874661,13,"C","-",80,"0;0","2;1","0;0","2;0","0;0","56;19",0,0,0,0,560,"Unknown",null,"N/A","FLT1","-","NM_002019.4",null,null,"Intron","rs147176157,rs200186804,rs372474907,rs752726266,rs779205862",93.75,{"$nulls":8},"-"]
["02160816100201_XZ",28962686,13,"T","CT",65,"0;0","21;17","0;0","9;18","0;0","0;0",0,1,0,0,450,"Unknown",null,"N/A","FLT1","c.1969+1247A>G","NM_002019.4",null,null,"Intron","rs17086617",58.46,{"$nulls":8},"G"]
["02160816100201_XZ",30091714,13,"G","AA",276,"148;127","0;0","0;0","0;1","0;0","0;0",0,1,0,0,6792,"Synonymous","N/A","N/A","SLC7A1","c.1506C>T","NM_003045.4","CDS8","p.L502L","Exon","rs2482089",99.64,{"$nulls":8},"T"]
["02160816100201_XZ",31821992,13,"T","CC",9,"0;0","5;4","0;0","0;0","0;0","0;0",1,0,0,0,8378,"Synonymous","1.AR","N/A","B3GALTL","c.348T>C","NM_194318.3","CDS6","p.H116H","Exon","rs4943266",100,{"$nulls":4},0.9754,1,"T",0.02456,"C",0.9754]
["02160816100201_XZ",31905887,13,"G","GT",47,"0;0","0;0","18;11","10;8","0;0","0;0",0,0,0,0,1273,"Unknown","1.AR","N/A","B3GALTL","c.*2082G>T","NM_194318.3",null,null,"Intron","rs2056444",38.3,{"$nulls":6},"T",0.4872,"T",0.4872]
["02160816100201_XZ",33639916,13,"A","insT",12,"6;6","0;0","0;0","0;0","0;3","0;0",0,1,0,0,1,"Unknown","N/A","TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, F... (OMIM:211900)","KL","c.*1592_*1593insT","NM_004795.3",null,null,"Intron",null,25,{"$nulls":8},"insT"]
["02160816100201_XZ",35806603,13,"T","delTA,GT",9,"0;0","0;0","0;2","5;0","0;0","0;2",1,1,0,1,0,"Unknown","N/A","N/A","NBEA","c.5649-26_5649-25delTA,c.5649-26T>GT","NM_015678.4",null,null,"Intron",null,"22.22,22.22",{"$nulls":8},"G"]
["02160816100201_XZ",37419044,13,"T","-",91,"0;0","0;3","0;0","22;19","0;0","26;21",0,0,0,1,509,"Unknown","N/A","PULMONARY HYPERTENSION, PRIMARY, 2 (OMIM:615342)","SMAD9","-","NM_001127217.2",null,null,"Intron",null,51.65,{"$nulls":8},"-"]
["02160816100201_XZ",37420409,13,"A","AG",6,"2;2","0;0","0;2","0;0","0;0","0;0",1,1,0,0,2,"Unknown","N/A","PULMONARY HYPERTENSION, PRIMARY, 2 (OMIM:615342)","SMAD9","c.*2404T>C","NM_001127217.2",null,null,"Intron","rs653693",33.33,{"$nulls":8},"C"]
["02160816100201_XZ",37494325,13,"G","delGCGGCG",16,"0;0","0;0","5;1","0;0","0;0","5;5",0,0,0,1,568,"Unknown","N/A","PULMONARY HYPERTENSION, PRIMARY, 2 (OMIM:615342)","SMAD9","c.-264_-259delCGCCGC","NM_001127217.2",null,null,"Intron","rs1054751131,rs578049648,rs770040180,rs886050175",62.5,{"$nulls":8},"delCGCCGC"]
["02160816100201_XZ",39338612,13,"T","CC",13,"0;0","2;9","0;0","2;0","0;0","0;0",0,0,0,1,7341,"Unknown","1.AR","FRASER SYNDROME (OMIM:219000)","FREM2","c.5410+25T>C","NM_207361.4",null,null,"Intron","rs2442370",84.62,{"$nulls":4},0.9463,1,"T",0.05371,"C",0.9463]
["02160816100201_XZ",43182002,13,"G","GT",27,"0;0","0;0","6;8","4;8","0;0","0;1",0,0,0,0,902,"Unknown","AR","OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)","TNFSF11","c.*948G>T","NM_003701.3",null,null,"Intron","rs1054016",44.44,{"$nulls":6},"T",0.3329,"T",0.3329]
["02160816100201_XZ",95057136,13,"C","AC",161,"35;48","33;45","0;0","0;0","0;0","0;0",0,0,0,0,1191,"Unknown","AR","OMODYSPLASIA 1 (OMIM:258315)","GPC6","c.*1665C>A","NM_005708.3",null,null,"Intron","rs7334430",51.55,{"$nulls":6},"A",0.3283,"A",0.3283]
["02160816100201_XZ",110819586,13,"G","AG",280,"60;83","0;0","52;85","0;0","0;0","0;0",0,1,0,0,7324,"Unknown",null,"RETINAL ARTERIES, TORTUOSITY OF (OMIM:180000), BRAIN SMALL VESSEL DISEASE WITH OR WITHO... (OMIM:607595), PORENCEPHALY 1 (OMIM:175780), ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY... (OMIM:611773)","COL4A1","c.3877-9C>T","NM_001845.4",null,null,"Intron","rs589985",51.07,{"$nulls":8},"T"]
["02160816100201_XZ",110959464,13,"C","AC",54,"13;9","18;14","0;0","0;0","0;0","0;0",0,1,0,0,2867,"Unknown",null,"RETINAL ARTERIES, TORTUOSITY OF (OMIM:180000), BRAIN SMALL VESSEL DISEASE WITH OR WITHO... (OMIM:607595), PORENCEPHALY 1 (OMIM:175780), ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY... (OMIM:611773)","COL4A1","c.-90G>T","NM_001845.4",null,null,"Intron","rs113651836",40.74,{"$nulls":8},"T"]
["02160816100201_XZ",111154058,13,"T","AA",251,"135;115","0;1","0;0","0;0","0;0","0;0",0,0,0,0,8393,"Synonymous",null,"PORENCEPHALY 2 (OMIM:614483)","COL4A2","c.3804T>A","NM_001846.2","CDS40","p.P1268P","Exon","rs439831",99.6,{"$nulls":4},0.9395,1,"T",0.0605,"A",0.9395]
["02160816100201_XZ",113818817,13,"T","CT",71,"0;0","17;3","0;0","37;14","0;0","0;0",0,1,0,0,4256,"Unknown","N/A","N/A","PROZ","c.374-10T>C","NM_003891.2",null,null,"Intron","rs45606038",28.17,{"$nulls":6},"T",0.05791,"C",0.2668]
["02160816100201_XZ",20946211,14,"G","GT",19,"0;0","0;0","0;12","7;0","0;0","0;0",0,1,0,0,163,"Unknown",null,"N/A","N/A","c.*1405+46G>T",{"$nulls":3},"Intron",null,36.84,{"$nulls":8},"T"]
["02160816100201_XZ",23744827,14,"T","delTCC",144,"0;0","0;0","0;0","48;50","0;0","21;25",0,0,0,0,978,"In-frame",null,"N/A","HOMEZ","c.1608_1610delGGA","NM_020834.2","CDS2","p.E537del","Exon","rs35076736,rs67447855,rs745787648,rs746723346,rs770722536,rs771610673",31.94,{"$nulls":8},"delGGA"]
["02160816100201_XZ",24837237,14,"A","AG",9,"4;2","0;0","0;3","0;0","0;0","0;0",1,1,0,1,636,"Unknown","N/A","N/A","NFATC4","c.-310A>G","NM_004554.4",null,null,"Intron",null,33.33,{"$nulls":8},"G"]
["02160816100201_XZ",24878370,14,"C","CT",309,"2;0","95;80","0;0","72;60","0;0","0;0",0,0,0,1,1472,"Nonsynonymous",null,"N/A","NYNRIN","c.1370C>T","NM_025081.2","CDS3","p.T457M","Exon","rs12437434",42.72,0.0907,0.3077,0.0531,0.2923,0.0863,0.2778,"T",0.08626,"T",0.08626,{"$nulls":5},"T","B","B","P",-1.119,".","."]
["02160816100201_XZ",32068461,14,"G","CG",8,"0;0","0;3","2;3","0;0","0;0","0;0",1,1,0,0,1,"Unknown","AR，XLD，Mi","MITOCHONDRIAL COMPLEX I DEFICIENCY (OMIM:252010)","NUBPL","c.292-34G>C","NM_025152.2",null,null,"Intron",null,37.5,{"$nulls":8},"C"]
["02160816100201_XZ",36989419,14,"C","AC",206,"53;53","41;55","4;0","0;0","0;0","0;0",0,1,0,1,2511,"Unknown","1.AD/2.AD/3.N/A","NK2 HOMEOBOX 1 (OMIM:600635), CHOREA, BENIGN HEREDITARY (OMIM:118700), CHOREOATHETOSIS AND CONGENITAL HYPOTHYRO... (OMIM:610978)","NKX2-1","c.-85G>T","NM_001079668.2",null,null,"Intron","rs2076751",51.46,{"$nulls":8},"T"]
["02160816100201_XZ",39556185,14,"G","CG",117,"1;0","23;33","26;34","0;0","0;0","0;0",0,0,0,0,6657,"Nonsynonymous","AR","CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)","SEC23A","c.631C>G","NM_006364.2","CDS5","p.L211V","Exon","rs8018720",47.86,0.7788,0.6329,0.8042,0.6526,{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-0.125,".","."]
["02160816100201_XZ",45669344,14,"A","delA",6,"1;3","0;0","0;0","0;0","0;0","0;2",1,1,0,0,1,"Unknown",null,"N/A","FANCM","c.*133delA","NM_020937.2",null,null,"Intron","rs778993078",33.33,{"$nulls":8},"delA"]
["02160816100201_XZ",50647263,14,"A","AT",8,"6;0","0;0","0;0","0;2","0;0","0;0",1,1,0,0,7,"Unknown",null,"N/A","SOS2","c.969+27T>A","NM_006939.2",null,null,"Intron",null,25,{"$nulls":8},"A"]
["02160816100201_XZ",59790813,14,"C","CT",89,"0;1","31;21","0;0","23;13","0;0","0;0",0,0,0,1,1983,"Unknown",null,"N/A","DAAM1","c.775-33C>T","NM_014992.2",null,null,"Intron","rs6573250",40.45,{"$nulls":4},0.5453,0.4028,"C",0.4547,"T",0.5453]
["02160816100201_XZ",59797235,14,"A","GG",109,"0;0","0;0","69;40","0;0","0;0","0;0",0,0,0,1,2943,"Synonymous",null,"N/A","DAAM1","c.1389A>G","NM_014992.2","CDS12","p.Q463Q","Exon","rs941884",100,{"$nulls":4},0.6558,0.8383,"A",0.3442,"G",0.6558]
["02160816100201_XZ",62211581,14,"G","-",30,"1;0","0;0","5;3","0;0","0;0","4;17",0,0,0,0,6534,"Unknown","N/A","N/A","HIF1A","-","NM_001530.3",null,null,"Intron","rs113182457,rs60361955,rs71895398,rs757918841,rs769007125,rs778649937,rs879087369",70,{"$nulls":8},"-"]
["02160816100201_XZ",64457638,14,"T","GT",62,"0;0","0;0","19;14","17;12","0;0","0;0",0,0,0,0,4494,"Unknown","1.AD","EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUT... (OMIM:612999)","SYNE2","c.2473-22T>G","NM_182914.2",null,null,"Intron","rs1255908",53.23,{"$nulls":4},0.2977,0.3631,"G",0.2977,"G",0.2977]
["02160816100201_XZ",64692465,14,"T","CT",226,"0;0","52;67","1;0","35;69","0;0","2;0",0,0,0,0,2388,"Unknown","1.AD","EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUT... (OMIM:612999)","SYNE2","c.*221T>C","NM_182914.2",null,null,"Intron","rs1048315",52.65,{"$nulls":6},"C",0.3345,"C",0.3345]
["02160816100201_XZ",64693064,14,"T","GT",8,"1;0","0;0","0;2","2;3","0;0","0;0",1,1,0,0,1708,"Unknown","1.AD","EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUT... (OMIM:612999)","SYNE2","c.*820T>G","NM_182914.2",null,null,"Intron","rs941392635",25,{"$nulls":8},"G"]
["02160816100201_XZ",74163625,14,"G","AG",78,"16;11","0;0","26;25","0;0","0;0","0;0",0,0,0,0,856,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)","DNAL1","c.*980G>A","NM_031427.3",null,null,"Intron","rs17129430",34.62,{"$nulls":6},"A",0.248,"A",0.248]
["02160816100201_XZ",74168625,14,"G","AA",10,"3;7","0;0","0;0","0;0","0;0","0;0",0,0,0,0,951,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)","DNAL1","c.*5980G>A","NM_031427.3",null,null,"Intron","rs1043732",100,{"$nulls":6},"G",0.1338,"A",0.8662]
["02160816100201_XZ",74991855,14,"A","GG",298,"3;1","0;2","156;136","0;0","1;0","0;0",0,1,0,0,7344,"Synonymous",null,"GLAUCOMA 3, PRIMARY CONGENITAL, D (OMIM:613086), MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, W... (OMIM:251750), WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)","LTBP2","c.2502T>C","NM_000428.2","CDS15","p.T834T","Exon","rs862031",97.99,{"$nulls":8},"C"]
["02160816100201_XZ",77746310,14,"G","AG",325,"91;73","0;2","89;69","0;1","0;0","0;0",0,1,0,0,4436,"Unknown","1.AR/2.AR/3.AR","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:613150), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (L... (OMIM:613158), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (C... (OMIM:613156)","POMT2","c.1786-39C>T","NM_013382.5",null,null,"Intron","rs438931",50.46,{"$nulls":8},"T"]
["02160816100201_XZ",80677923,14,"T","AT",7,"2;0","0;0","0;0","4;1","0;0","0;0",1,1,0,0,11,"Unknown","N/A","N/A","DIO2","c.-108A>T","NM_013989.4",null,null,"Intron",null,28.57,{"$nulls":8},"T"]
["02160816100201_XZ",81610583,14,"G","CG",245,"0;0","60;73","51;61","0;0","0;0","0;0",0,0,0,1,6785,"Nonsynonymous","AD","HYPERTHYROIDISM, FAMILIAL GESTATIONAL (OMIM:603373), HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152), HYPOTHYROIDISM, CONGENITAL, NONGOITROUS,... (OMIM:275200)","TSHR","c.2181G>C","NM_000369.2","CDS10","p.E727D","Exon","rs1991517",54.29,0.8915,0.8479,0.9002,0.8252,0.8968,0.8472,"G",0.1032,"C",0.8968,"CM994612","NM_000369.2:c.2181C-G","missense/nonsense","DFP","Toxicmultinodular goitre, association with","T","B","B","P",-0.232,".","."]
["02160816100201_XZ",88648387,14,"C","-",220,"0;0","69;59","1;0","0;0","0;0","40;51",0,0,0,0,356,"Unknown",null,"N/A","KCNK10","-","NM_138317.2",null,null,"Intron","rs747864165,rs748420010",41.36,{"$nulls":8},"-"]
["02160816100201_XZ",88650644,14,"T","AT",187,"20;66","0;0","0;0","40;61","0;0","0;0",0,0,0,0,520,"Unknown",null,"N/A","KCNK10","c.*1235A>T","NM_138317.2",null,null,"Intron","rs11159843",45.99,{"$nulls":8},"T"]
["02160816100201_XZ",90652040,14,"G","AA",206,"94;112","0;0","0;0","0;0","0;0","0;0",0,0,0,0,672,"Unknown",null,"N/A","KCNK13","c.*693G>A","NM_022054.3",null,null,"Intron","rs3088170",100,{"$nulls":6},"G",0.2396,"A",0.7604]
["02160816100201_XZ",92525284,14,"T","AT",25,"6;0","0;0","0;0","12;7","0;0","0;0",0,1,0,0,1,"Unknown","AD","MACHADO-JOSEPH DISEASE (OMIM:109150)","ATXN3","c.*5380A>T","NM_004993.5",null,null,"Intron",null,24,{"$nulls":8},"T"]
["02160816100201_XZ",92525558,14,"A","AG",12,"4;4","0;0","4;0","0;0","0;0","0;0",0,1,0,1,1,"Unknown","AD","MACHADO-JOSEPH DISEASE (OMIM:109150)","ATXN3","c.*5106T>C","NM_004993.5",null,null,"Intron",null,33.33,{"$nulls":8},"C"]
["02160816100201_XZ",94749836,14,"T","CC",167,"0;0","93;73","0;0","0;1","0;0","0;0",0,1,0,0,729,"Unknown","NA","N/A","SERPINA10","c.*466A>G","NM_016186.2",null,null,"Intron","rs11441",99.4,{"$nulls":8},"G"]
["02160816100201_XZ",96671215,14,"A","-",180,"5;12","0;0","0;0","0;0","0;0","69;94",0,0,0,0,2022,"Unknown","N/A","N/A","BDKRB2","-","NM_000623.3",null,null,"Intron","rs71103505,rs761899035,rs764264024,rs765222061,rs772945381",90.56,{"$nulls":8},"-"]
["02160816100201_XZ",104058358,14,"A","insAG",6,"0;6","0;0","0;0","0;0","0;2","0;0",1,1,0,0,1,"Unknown",null,"N/A","N/A","c.*613+1122_*613+1123insGA",{"$nulls":3},"Intron",null,33.33,{"$nulls":8},"insGA"]
["02160816100201_XZ",22933511,15,"A","AT",49,"17;14","0;1","0;0","10;3","0;0","2;2",0,0,1,1,1784,"Unknown",null,"N/A","CYFIP1","c.570-50A>T","NM_014608.2",null,null,"Intron","rs1867599",26.53,{"$nulls":6},"T",0.4391,"T",0.4391]
["02160816100201_XZ",22993200,15,"C","CG",5,"0;0","2;1","2;0","0;0","0;0","0;0",1,1,0,0,12,"Unknown",null,"N/A","CYFIP1","c.3042+45C>G","NM_014608.2",null,null,"Intron",null,40,{"$nulls":8},"G"]
["02160816100201_XZ",31369223,15,"C","TT",62,"0;0","0;0","0;0","28;34","0;0","0;0",0,1,0,1,7635,"Unknown","AR","NIGHT BLINDNESS, CONGENITAL STATIONARY, ... (OMIM:613216)","TRPM1","c.-63-36G>A","NM_002420.5",null,null,"Intron","rs4779817",100,{"$nulls":8},"A"]
["02160816100201_XZ",34113010,15,"C","CT",130,"1;0","29;37","0;0","21;42","0;0","0;0",0,0,0,0,3464,"Synonymous","N/A","N/A","RYR3","c.10812C>T","NM_001036.3","CDS78","p.F3604F","Exon","rs2288613",48.46,{"$nulls":4},0.3748,0.3026,"T",0.3748,"T",0.3748]
["02160816100201_XZ",34522557,15,"G","AG",184,"42;23","0;0","61;58","0;0","0;0","0;0",0,1,0,0,780,"Unknown","AR","AGENESIS OF THE CORPUS CALLOSUM WITH PER... (OMIM:218000)","SLC12A6","c.*3525C>T","NM_133647.1",null,null,"Intron","rs1133154",35.33,{"$nulls":8},"T"]
["02160816100201_XZ",34524995,15,"G","TT",221,"0;0","0;0","1;2","107;111","0;0","0;0",0,1,0,0,1786,"Unknown","AR","AGENESIS OF THE CORPUS CALLOSUM WITH PER... (OMIM:218000)","SLC12A6","c.*1087C>A","NM_133647.1",null,null,"Intron","rs4779660",98.64,{"$nulls":8},"A"]
["02160816100201_XZ",34634138,15,"G","AG",314,"71;73","0;1","83;86","0;0","1;0","0;0",0,1,0,0,3022,"Unknown","AR","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESS... (OMIM:224230)","NOP10","c.*31C>T","NM_018648.3",null,null,"Intron","rs1045204",45.86,{"$nulls":8},"T"]
["02160816100201_XZ",37391847,15,"T","AT",12,"3;0","0;0","0;0","3;6","0;0","0;0",0,1,0,0,1,"Unknown",null,"N/A","MEIS2","c.-180A>T","NM_170674.4",null,null,"Intron",null,25,{"$nulls":8},"T"]
["02160816100201_XZ",37393545,15,"G","delGC",23,"0;0","0;0","4;7","0;1","0;0","1;10",0,1,0,0,395,"Unknown",null,"N/A","N/A","c.-674-1215_-674-1214delGC",{"$nulls":3},"Intron","rs1005642940,rs58263253,rs60726748,rs67389238,rs71126258,rs746417384,rs749043091,rs752109005,rs756486119,rs759267723,rs768618621,rs770754345,rs770982905,rs771605309,rs774031703,rs775203822,rs879386409,rs879676745,rs961741045",47.83,{"$nulls":8},"delGC"]
["02160816100201_XZ",40282625,15,"T","CC",77,"1;0","28;48","0;0","0;0","0;0","0;0",0,0,0,0,7151,"Unknown","AR","PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOS... (OMIM:234810)","EIF2AK4","c.2631+47T>C","NM_001013703.2",null,null,"Intron","rs4144472",98.7,{"$nulls":6},"T",0.05172,"C",0.9483]
["02160816100201_XZ",40712737,15,"T","CC",266,"0;0","151;114","0;0","0;1","0;0","0;0",0,0,0,0,1991,"Unknown",null,"ISOVALERIC ACIDEMIA (OMIM:243500)","IVD","c.*2275T>C","NM_002225.3",null,null,"Intron","rs11790",99.62,{"$nulls":6},"T",0.3888,"C",0.6112]
["02160816100201_XZ",43237203,15,"T","CC",116,"0;0","54;61","0;0","1;0","0;0","0;0",0,1,0,0,2243,"Unknown","1.AR","JOHANSON-BLIZZARD SYNDROME (OMIM:243800)","UBR1","c.*324A>G","NM_174916.2",null,null,"Intron","rs3803341",99.14,{"$nulls":8},"G"]
["02160816100201_XZ",48580573,15,"A","AT",39,"17;8","0;0","0;0","8;6","0;0","0;0",0,0,0,1,5003,"Unknown","AR","BARTTER SYNDROME, ANTENATAL, TYPE 1 (OMIM:601678)","SLC12A1","c.2762-29A>T","NM_000338.2",null,null,"Intron","rs12442530",35.9,{"$nulls":4},0.3295,0.4028,"T",0.3295,"T",0.3295]
["02160816100201_XZ",50849399,15,"T","CT",72,"0;0","18;12","0;0","25;17","0;0","0;0",0,1,0,0,1104,"Unknown","N/A","N/A","TRPM7","c.*4476A>G","NM_017672.4",null,null,"Intron","rs2630",41.67,{"$nulls":8},"G"]
["02160816100201_XZ",50851696,15,"A","-",63,"16;9","0;0","1;0","0;0","0;0","23;14",0,0,0,0,1022,"Unknown","N/A","N/A","TRPM7","-","NM_017672.4",null,null,"Intron",null,58.73,{"$nulls":8},"-"]
["02160816100201_XZ",50923733,15,"C","CG",17,"0;0","4;9","4;0","0;0","0;0","0;0",0,1,0,0,6,"Unknown","N/A","N/A","TRPM7","c.1132-47G>C","NM_017672.4",null,null,"Intron",null,23.53,{"$nulls":8},"C"]
["02160816100201_XZ",52604137,15,"T","insTTTGTCATT",26,"0;0","0;0","0;0","14;12","8;8","0;0",0,0,0,1,2089,"Unknown","AR","GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)","MYO5A","c.*1756_*1757insAATGACAAA","NM_000259.3",null,null,"Intron","rs11282676",61.54,{"$nulls":8},"insAATGACAAA"]
["02160816100201_XZ",52640991,15,"A","insA",21,"12;8","0;1","0;0","0;0","8;5","0;0",0,0,0,1,8121,"Unknown","AR","GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)","MYO5A","c.3858+24_3858+25insT","NM_000259.3",null,null,"Intron","rs11386962,rs397719334",61.9,{"$nulls":8},"insT"]
["02160816100201_XZ",58245986,15,"T","AT",162,"41;30","0;0","0;1","54;36","0;0","0;0",0,0,0,0,343,"Unknown",null,"N/A","ALDH1A2","c.*1409A>T","NM_003888.3",null,null,"Intron","rs9325",43.83,{"$nulls":8},"T"]
["02160816100201_XZ",58853214,15,"C","-",69,"0;0","6;1","1;0","0;1","2;0","21;39",0,0,0,0,7716,"Unknown",null,"HEPATIC LIPASE DEFICIENCY (OMIM:614025)","LIPC","-","NM_000236.2",null,null,"Intron",null,86.96,{"$nulls":8},"-"]
["02160816100201_XZ",63362499,15,"A","GG",4,"1;0","0;0","2;1","0;0","0;0","0;0",1,0,0,0,10,"Unknown","AD","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (OMIM:115196), CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)","TPM1","c.*194+4207A>G","NM_001018005.1",null,null,"Intron",null,75,{"$nulls":8},"G"]
["02160816100201_XZ",63413997,15,"C","TT",32,"0;0","0;0","0;0","19;13","0;0","0;0",0,0,0,0,6783,"Splice",null,"N/A","N/A","c.-72-2C>T",null,null,"Splice","Splice","rs8182083",100,{"$nulls":6},"C",3.994E-4,"T",0.9996]
["02160816100201_XZ",65295162,15,"G","AG",8,"0;2","0;0","0;6","0;0","0;0","0;0",1,1,0,0,11,"Unknown",null,"COMBINED OXIDATIVE PHOSPHORYLATION DEFIC... (OMIM:614947)","MTFMT","c.*238C>T","NM_139242.3",null,null,"Intron",null,25,{"$nulls":8},"T"]
["02160816100201_XZ",67473833,15,"G","CG",17,"0;0","4;0","0;13","0;0","0;0","0;0",0,1,0,0,1842,"Unknown","AD","LOEYS-DIETZ SYNDROME, TYPE 3 (OMIM:613795)","SMAD3","c.871+42G>C","NM_005902.3",null,null,"Intron",null,23.53,{"$nulls":8},"C"]
["02160816100201_XZ",67486847,15,"T","CT",50,"0;0","11;22","0;0","8;9","0;0","0;0",0,0,0,1,792,"Unknown","AD","LOEYS-DIETZ SYNDROME, TYPE 3 (OMIM:613795)","SMAD3","c.*3973T>C","NM_005902.3",null,null,"Intron","rs1052488",66,{"$nulls":6},"C",0.3464,"C",0.3464]
["02160816100201_XZ",74472199,15,"C","CT",336,"0;0","101;84","0;0","83;68","0;0","0;0",0,1,0,0,3315,"Unknown","1.AR/2.AR","MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)","STRA6","c.*222G>A","NM_022369.3",null,null,"Intron","rs10910",44.94,{"$nulls":8},"A"]
["02160816100201_XZ",79058557,15,"C","AC",165,"50;48","33;34","0;0","0;0","0;0","0;0",0,1,0,0,185,"Synonymous",null,"N/A","ADAMTS7","c.3696G>T","NM_014272.3","CDS19","p.L1232L","Exon","rs138153390",59.39,{"$nulls":8},"T"]
["02160816100201_XZ",79058960,15,"G","AG",131,"42;33","0;1","32;23","0;0","0;0","0;0",0,1,0,0,409,"Nonsynonymous",null,"N/A","ADAMTS7","c.3293C>T","NM_014272.3","CDS19","p.P1098L","Exon","rs185729893",57.25,0.0348,0.0839,0.0173,0.077,{"$nulls":4},"T",{"$nulls":6},"D","P","B","N",0.447,".","."]
["02160816100201_XZ",80472431,15,"C","AA",72,"53;18","0;1","0;0","0;0","0;0","0;0",0,0,0,1,7855,"Unknown","1.AR","TYROSINEMIA, TYPE I (OMIM:276700)","FAH","c.961-35C>A","NM_000137.2",null,null,"Intron","rs2043691",98.61,{"$nulls":4},0.6703,0.8542,"C",0.3297,"A",0.6703]
["02160816100201_XZ",88428911,15,"G","insA",13,"0;0","0;0","9;4","0;0","3;0","0;0",0,1,0,0,1,"Unknown",null,"N/A","NTRK3","c.2175+14_2175+15insT","NM_001012338.2",null,null,"Intron",null,23.08,{"$nulls":8},"insT"]
["02160816100201_XZ",89838236,15,"G","AA",199,"120;77","0;0","2;0","0;0","0;0","0;0",0,0,0,1,7294,"Synonymous","1.NA","FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)","FANCI","c.2547G>A","NM_001113378.1","CDS23","p.K849K","Exon","rs7183618",98.99,{"$nulls":4},0.9808,1,"G",0.01917,"A",0.9808]
["02160816100201_XZ",90195967,15,"C","CG",353,"1;0","72;107","73;100","0;0","0;0","0;0",0,0,0,0,7548,"Synonymous",null,"ACROCALLOSAL SYNDROME (OMIM:200990), HYDROLETHALUS SYNDROME 2 (OMIM:614120)","KIF7","c.195G>C","NM_198525.2","CDS1","p.A65A","Exon","rs8179066",49.01,{"$nulls":8},"C"]
["02160816100201_XZ",91424574,15,"G","CG",248,"0;0","62;66","57;63","0;0","0;0","0;0",0,0,0,0,5449,"Synonymous","N/A","N/A","FURIN","c.1851G>C","NM_002569.2","CDS15","p.G617G","Exon","rs6226",51.61,{"$nulls":4},0.7218,0.5357,"G",0.2782,"C",0.7218]
["02160816100201_XZ",91549523,15,"C","-",139,"0;0","34;26","0;0","0;0","0;0","55;24",0,0,0,0,4625,"Unknown","1.AR","ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND C... (OMIM:208085)","VPS33B","-","NM_018668.3",null,null,"Intron",null,56.83,{"$nulls":8},"-"]
["02160816100201_XZ",94841381,15,"T","insT",18,"0;0","0;0","0;0","13;4","5;1","1;0",0,1,0,0,28,"Unknown",null,"N/A","MCTP2","c.-65-38_-65-37insT","NM_018349.3",null,null,"Intron",null,33.33,{"$nulls":8},"insT"]
["02160816100201_XZ",99645262,15,"C","CT",21,"0;0","6;1","0;0","11;3","0;0","0;0",0,1,0,0,1743,"Unknown",null,"N/A","N/A","c.-120-24C>T",{"$nulls":3},"Intron","rs34878632",66.67,{"$nulls":6},"T",0.2987,"T",0.2987]
["02160816100201_XZ",100252711,15,"A","-",186,"54;41","0;0","2;1","0;0","0;0","51;37",0,0,0,0,5973,"In-frame",null,"N/A","MEF2A","-","NM_005587.2","CDS9",null,"Exon","rs766037675",47.31,{"$nulls":8},"-"]
["02160816100201_XZ",100255046,15,"A","AG",40,"17;6","0;0","13;4","0;0","0;0","0;0",0,0,0,0,484,"Unknown",null,"N/A","MEF2A","c.*2070A>G","NM_005587.2",null,null,"Intron","rs325383",42.5,{"$nulls":6},"G",0.2819,"G",0.2819]
["02160816100201_XZ",1204056,16,"G","GT",12,"0;0","0;0","1;7","0;3","0;0","0;1",0,1,0,0,153,"Unknown","1.NA/2.NA","N/A","CACNA1H","c.299+20G>T","NM_021098.2",null,null,"Intron",null,25,{"$nulls":8},"T"]
["02160816100201_XZ",1260481,16,"T","CC",186,"0;0","118;67","0;0","1;0","0;0","0;0",0,0,0,1,7918,"Synonymous","1.NA/2.NA","N/A","CACNA1H","c.3957T>C","NM_021098.2","CDS18","p.D1319D","Exon","rs8063574",99.46,{"$nulls":4},0.9199,1,"T",0.08007,"C",0.9199]
["02160816100201_XZ",1270349,16,"T","CC",114,"0;0","43;71","0;0","0;0","0;0","0;0",0,0,0,0,7901,"Synonymous","1.NA/2.NA","N/A","CACNA1H","c.6417T>C","NM_021098.2","CDS34","p.D2139D","Exon","rs4247094",100,{"$nulls":4},0.9139,0.999,"T",0.08606,"C",0.9139]
["02160816100201_XZ",1524850,16,"A","AG",33,"9;1","0;0","17;6","0;0","0;0","0;0",0,1,0,0,5708,"Synonymous","1.AD/2.AR","OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 (OMIM:611490), OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)","CLCN7","c.126T>C","NM_001287.5","CDS1","p.P42P","Exon","rs3751884",69.7,{"$nulls":8},"C"]
["02160816100201_XZ",2164808,16,"C","TT",59,"0;0","0;0","0;0","33;26","0;0","0;0",0,1,0,0,4705,"Nonsynonymous","AD","POLYCYSTIC KIDNEYS (OMIM:173900)","PKD1","c.2216G>A","NM_001009944.2","CDS11","p.R739Q","Exon","rs40433",100,0.9066,0.9353,0.7897,1,{"$nulls":4},"A",{"$nulls":6},"T","B","B","P",-1.862,".","."]
["02160816100201_XZ",2390566,16,"G","GT",8,"0;0","0;0","4;2","1;1","0;0","0;0",1,1,0,1,1,"Unknown",null,"SURFACTANT METABOLISM DYSFUNCTION, PULMO... (OMIM:610921)","ABCA3","c.-539+8C>A","NM_001089.2",null,null,"Intron",null,25,{"$nulls":8},"A"]
["02160816100201_XZ",3297181,16,"C","CT",367,"0;0","70;97","0;0","79;121","0;0","0;0",0,1,0,1,6110,"Synonymous",null,"FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL ... (OMIM:134610), FAMILIAL MEDITERRANEAN FEVER (OMIM:249100)","MEFV","c.1422G>A","NM_000243.2","CDS5","p.E474E","Exon","rs224208",54.5,{"$nulls":8},"A"]
["02160816100201_XZ",3776424,16,"A","-",232,"9;4","0;0","0;0","0;0","0;0","95;124",0,0,0,0,2110,"Unknown",null,"RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)","CREBBP","-","NM_004380.2",null,null,"Intron",null,94.4,{"$nulls":8},"-"]
["02160816100201_XZ",5135947,16,"C","GG",157,"0;0","0;1","67;89","0;0","0;0","0;0",0,0,0,0,118,"Unknown","AR","CONGENITAL DISORDER OF GLYCOSYLATION, TY... (OMIM:608540)","ALG1","c.*1065C>G","NM_019109.4",null,null,"Intron","rs4483845",99.36,{"$nulls":6},"C",0.4313,"G",0.5687]
["02160816100201_XZ",7657373,16,"A","AG",67,"15;14","0;0","17;21","0;0","0;0","0;0",0,0,0,0,3293,"Unknown",null,"N/A","RBFOX1","c.736+33A>G","NM_145891.2",null,null,"Intron","rs1507010",56.72,{"$nulls":4},0.3267,0.2073,"G",0.3267,"G",0.3267]
["02160816100201_XZ",11642242,16,"T","CT",178,"0;0","43;39","0;0","49;47","0;0","0;0",0,1,0,0,4108,"Unknown",null,"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATI... (OMIM:601098)","LITAF","c.*1251A>G","NM_004862.3",null,null,"Intron","rs7102",46.07,{"$nulls":8},"G"]
["02160816100201_XZ",14043978,16,"C","CT",8,"0;0","1;3","0;0","0;4","0;0","0;0",1,1,0,0,3,"Unknown","1.AR/2.NA/3.AR/4.AR","XERODERMA PIGMENTOSUM, COMPLEMENTATION G... (OMIM:278760), XFE PROGEROID SYNDROME (OMIM:610965), FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)","ERCC4","c.*1774C>T","NM_005236.2",null,null,"Intron","rs772694607",50,{"$nulls":8},"T"]
["02160816100201_XZ",15851655,16,"G","AG",189,"73;26","0;0","67;23","0;0","0;0","0;0",0,1,0,0,1685,"Unknown",null,"AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)","MYH11","c.1575+29C>T","NM_002474.2",null,null,"Intron","rs35053133",52.38,{"$nulls":8},"T"]
["02160816100201_XZ",16291871,16,"G","CC",122,"0;0","89;32","0;1","0;0","0;0","0;0",0,1,0,0,7706,"Unknown",null,"ARTERIAL CALCIFICATION, GENERALIZED, OF ... (OMIM:614473), PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPS... (OMIM:177850), PSEUDOXANTHOMA ELASTICUM (OMIM:264800)","ABCC6","c.1338+7C>G","NM_001171.5",null,null,"Intron","rs9940089",99.18,{"$nulls":8},"G"]
["02160816100201_XZ",24166130,16,"T","CC",338,"0;0","152;178","0;0","4;4","0;0","0;0",0,0,0,1,3713,"Synonymous","N/A","N/A","PRKCB","c.1191T>C","NM_002738.6","CDS10","p.P397P","Exon","rs432998",97.63,{"$nulls":4},0.3942,0.3413,"C",0.3942,"C",0.3942]
["02160816100201_XZ",28890131,16,"C","AC",416,"97;129","77;113","0;0","0;0","0;0","0;0",0,0,0,0,2152,"Unknown","NA","BRODY MYOPATHY (OMIM:601003)","ATP2A1","c.118+21C>A","NM_173201.3",null,null,"Intron","rs62037371",54.33,{"$nulls":4},0.2614,0.126,"A",0.2614,"A",0.2614]
["02160816100201_XZ",30968589,16,"C","TT",116,"0;0","0;0","1;0","75;40","0;0","0;0",0,0,0,0,671,"Unknown",null,"N/A","N/A","c.-686-26C>T",{"$nulls":3},"Intron","rs4889599",99.14,{"$nulls":6},"T",0.491,"T",0.491]
["02160816100201_XZ",30991159,16,"C","-",94,"0;0","9;48","0;0","0;0","0;0","12;25",0,0,0,0,1,"In-frame",null,"N/A","SETD1A","-","NM_014712.1","CDS13",null,"Exon",null,39.36,{"$nulls":8},"-"]
["02160816100201_XZ",53633195,16,"T","CT",54,"0;0","18;12","0;0","12;12","0;0","0;0",0,0,0,0,1598,"Unknown",null,"N/A","N/A","c.*2170+623T>C",{"$nulls":3},"Intron","rs6499633",55.56,{"$nulls":6},"C",0.4778,"C",0.4778]
["02160816100201_XZ",53913930,16,"G","AG",37,"8;15","1;0","3;8","0;0","0;0","2;0",0,0,0,0,6940,"Unknown","1.AR","GROWTH RETARDATION, DEVELOPMENTAL DELAY,... (OMIM:612938)","FTO","c.1119+31G>A","NM_001080432.2",null,null,"Intron","rs11076004",62.16,{"$nulls":4},0.3882,0.6885,"A",0.3882,"A",0.3882]
["02160816100201_XZ",54968203,16,"C","insAT",5,"0;0","2;3","0;0","0;0","0;3","0;0",1,1,0,0,0,"Unknown",null,"HAMAMY SYNDROME (OMIM:611174)","IRX5","c.*417_*418insAT","NM_005853.5",null,null,"Intron",null,60,{"$nulls":8},"insAT"]
["02160816100201_XZ",54968204,16,"C","CT",5,"0;0","2;0","0;0","0;3","0;0","0;0",1,1,0,0,0,"Unknown",null,"HAMAMY SYNDROME (OMIM:611174)","IRX5","c.*419C>T","NM_005853.5",null,null,"Intron",null,60,{"$nulls":8},"T"]
["02160816100201_XZ",56901065,16,"A","AG",113,"19;31","0;0","27;36","0;0","0;0","0;0",0,0,0,0,4040,"Synonymous","AR","GITELMAN SYNDROME (OMIM:263800)","SLC12A3","c.366A>G","NM_000339.2","CDS2","p.A122A","Exon","rs2304479",55.75,{"$nulls":4},0.1216,0.2956,"G",0.1216,"G",0.1216]
["02160816100201_XZ",57017762,16,"C","GG",260,"0;0","0;0","85;173","0;0","0;0","2;0",0,0,0,0,5374,"Unknown",null,"N/A","N/A","c.*178+6C>G",{"$nulls":3},"Intron","rs289742",99.23,{"$nulls":6},"C",0.2338,"G",0.7662]
["02160816100201_XZ",57689883,16,"T","CT",499,"1;0","111;147","1;0","109;130","1;0","0;0",0,0,0,0,7661,"Synonymous","1.AR/2.AR","N/A","GPR56","c.996T>C","NM_005682.5","CDS6","p.T332T","Exon","rs1376041",51.7,{"$nulls":4},0.8167,0.7956,"T",0.1833,"C",0.8167]
["02160816100201_XZ",57950057,16,"G","AG",285,"79;55","0;0","81;68","0;2","0;0","0;0",0,1,0,0,6378,"Synonymous","NA","RETINITIS PIGMENTOSA 45 (OMIM:613767)","CNGB1","c.2193C>T","NM_001297.4","CDS21","p.N731N","Exon","rs376270",47.02,{"$nulls":8},"T"]
["02160816100201_XZ",58546297,16,"C","CT",452,"0;0","93;145","0;0","88;125","0;0","0;1",0,0,0,0,541,"Unknown",null,"N/A","NDRG4","c.*817C>T","NM_001130487.1",null,null,"Intron","rs1058132",47.12,{"$nulls":6},"T",0.475,"T",0.475]
["02160816100201_XZ",58577421,16,"C","CT",90,"2;0","22;16","0;0","32;18","0;0","0;0",0,1,0,0,3040,"Unknown",null,"N/A","CNOT1","c.4419+90G>A","NM_001265612.1",null,null,"Intron","rs41260",55.56,{"$nulls":8},"A"]
["02160816100201_XZ",72818152,16,"A","delA",47,"9;20","0;0","0;0","0;0","0;0","7;11",0,0,0,0,41,"Unknown",null,"N/A","LOC101927978","c.*2901delA","XR_243469.1",null,null,"Intron","rs199685442",38.3,{"$nulls":8},"delA"]
["02160816100201_XZ",72831652,16,"G","AG",371,"87;100","0;0","82;102","0;0","0;0","0;0",0,1,0,1,3259,"Synonymous","N/A","N/A","ZFHX3","c.4929C>T","NM_006885.3","CDS8","p.S1643S","Exon","rs2229290",50.4,{"$nulls":8},"T"]
["02160816100201_XZ",79628172,16,"C","GG",82,"2;0","0;1","40;39","0;0","2;0","0;0",0,1,0,1,4079,"Unknown",null,"CATARACT 21, MULTIPLE TYPES (OMIM:610202), AYME-GRIPP SYNDROME (OMIM:601088)","MAF","c.*185G>C","NM_005360.4",null,null,"Intron","rs30412",96.34,{"$nulls":8},"C"]
["02160816100201_XZ",79631915,16,"G","CG",101,"0;0","19;18","30;34","0;0","0;0","0;0",0,0,0,1,1266,"Unknown",null,"CATARACT 21, MULTIPLE TYPES (OMIM:610202), AYME-GRIPP SYNDROME (OMIM:601088)","MAF","c.1118+767C>G","NM_005360.4",null,null,"Intron","rs1046729",36.63,{"$nulls":8},"G"]
["02160816100201_XZ",81743555,16,"T","GT",40,"3;0","0;1","0;13","18;5","0;0","0;0",0,1,0,0,619,"Unknown",null,"N/A","CMIP","c.*151T>G","NM_198390.2",null,null,"Intron","rs889924964",32.5,{"$nulls":8},"G"]
["02160816100201_XZ",81819820,16,"G","AA",195,"66;128","0;0","0;1","0;0","0;0","0;0",0,0,0,1,6066,"Unknown","1.AD/2.AD","AUTOINFLAMMATION, ANTIBODY DEFICIENCY, A... (OMIM:614878), FAMILIAL COLD AUTOINFLAMMATORY SYNDROME ... (OMIM:614468)","PLCG2","c.193+33G>A","NM_002661.3",null,null,"Intron","rs4294811",99.49,{"$nulls":4},0.2861,0.5794,"A",0.2861,"A",0.2861]
["02160816100201_XZ",81993974,16,"A","AG",322,"78;97","0;1","60;86","0;0","0;5","0;0",0,0,0,0,118,"Unknown","1.AD/2.AD","AUTOINFLAMMATION, ANTIBODY DEFICIENCY, A... (OMIM:614878), FAMILIAL COLD AUTOINFLAMMATORY SYNDROME ... (OMIM:614468)","PLCG2","c.*296+2075A>G","NM_002661.3",null,null,"Intron","rs4243226",45.34,{"$nulls":6},"A",0.2129,"G",0.7871]
["02160816100201_XZ",84255087,16,"C","insCCCAGGT",513,"0;0","228;284","0;0","0;0","126;178","1;0",0,0,0,0,503,"Unknown",null,"N/A","KCNG4","c.*736_*737insACCTGGG","NM_172347.2",null,null,"Intron","rs140352628",59.26,{"$nulls":8},"insACCTGGG"]
["02160816100201_XZ",84511396,16,"A","TT",325,"0;0","0;0","0;1","164;160","0;0","0;0",0,1,0,0,70,"Unknown",null,"N/A","TLDC1","c.*2123T>A","NM_020947.3",null,null,"Intron","rs8053110",99.69,{"$nulls":8},"A"]
["02160816100201_XZ",84531762,16,"A","AG",11,"1;7","0;0","3;0","0;0","0;0","0;0",0,1,0,0,0,"Unknown",null,"N/A","TLDC1","c.-25-45T>C","NM_020947.3",null,null,"Intron",null,27.27,{"$nulls":8},"C"]
["02160816100201_XZ",88494947,16,"T","CC",246,"0;0","132;113","0;0","0;1","0;0","0;0",0,0,0,1,7865,"Nonsynonymous","AR","BRITTLE CORNEA SYNDROME (OMIM:229200)","ZNF469","c.1069T>C","NM_001127464.1","CDS1","p.S357P","Exon","rs11648572",99.59,0.9831,0.9983,0.9727,1,0.989,1,"T",0.01098,"C",0.989,{"$nulls":5},"T","B","B","P",-1.473,".","."]
["02160816100201_XZ",88506288,16,"G","insGCCTCCTCCCTCTGACCACAGGGTCAT",466,"0;1","0;2","199;261","0;2","64;74","0;1",0,0,0,0,607,"Unknown","AR","BRITTLE CORNEA SYNDROME (OMIM:229200)","ZNF469","c.*604_*605insTCCTCCCTCTGACCACAGGGTCATGCC","NM_001127464.1",null,null,"Intron",null,29.61,{"$nulls":8},"insTCCTCCCTCTGACCACAGGGTCATGCC"]
["02160816100201_XZ",88744236,16,"T","-",422,"0;0","0;0","0;1","125;122","1;0","93;81",0,0,0,0,38,"Unknown",null,"N/A","SNAI3-AS1","-","NR_024402.1",null,null,"Intron",null,41.23,{"$nulls":8},"-"]
["02160816100201_XZ",89805977,16,"G","AA",204,"71;132","0;0","0;1","0;0","0;0","0;0",0,0,0,0,1104,"Unknown","N/A","N/A","ZNF276","c.*1323G>A","NM_001113525.1",null,null,"Intron","rs1061646",99.51,{"$nulls":4},0.5381,0.7073,"G",0.4619,"A",0.5381]
["02160816100201_XZ",89865242,16,"T","CC",393,"0;0","187;202","1;0","0;1","0;0","0;2",0,1,0,0,3723,"Unknown","1.AR","FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)","FANCA","c.893+332A>G","NM_000135.2",null,null,"Intron","rs10852623",98.98,{"$nulls":8},"G"]
["02160816100201_XZ",1248753,17,"G","AG",68,"19;13","0;2","14;20","0;0","0;0","0;0",0,1,0,0,197,"Synonymous","N/A","N/A","YWHAE","c.756C>T","NM_006761.4","CDS6","p.D252D","Exon","rs150837977",47.06,{"$nulls":8},"T"]
["02160816100201_XZ",3415620,17,"C","delC",145,"0;0","1;0","2;5","1;0","1;0","65;71",0,0,0,0,134,"Unknown",null,"N/A","SPATA22","c.-176-40478delG","NM_001170695.1",null,null,"Intron","rs57868197,rs869218825",93.79,{"$nulls":8},"delG"]
["02160816100201_XZ",3433543,17,"A","AG",232,"31;79","0;0","39;83","0;0","0;0","0;0",0,1,0,0,5598,"Unknown","AD","PALMOPLANTAR KERATODERMA, NONEPIDERMOLYT... (OMIM:616400), PALMOPLANTAR KERATODERMA, MUTILATING, WI... (OMIM:614594)","TRPV3","c.1066-46T>C","NM_145068.3",null,null,"Intron","rs4790510",52.59,{"$nulls":8},"C"]
["02160816100201_XZ",3493200,17,"C","CG",389,"0;0","105;93","100;91","0;0","0;0","0;0",0,0,0,0,4590,"Nonsynonymous","N/A","N/A","TRPV1","c.945G>C","NM_080706.3","CDS5","p.M315I","Exon","rs222747",49.1,0.7001,0.4563,0.7117,0.5108,{"$nulls":4},"C",null,"CM077645","NM_080706.3:c.945C-G","missense/nonsense","DFP","Functionaldyspepsia, association with","T","B","B","P",-0.352,".","."]
["02160816100201_XZ",3512619,17,"G","-",74,"0;0","4;3","2;0","0;0","0;0","44;21",0,0,0,0,81,"Unknown","N/A","N/A","TRPV1","-","NM_080706.3",null,null,"Intron","rs201421593,rs35497675,rs3840876",87.84,{"$nulls":8},"-"]
["02160816100201_XZ",4712564,17,"T","insTC",274,"1;0","0;0","0;0","140;125","51;40","3;5",0,1,0,1,1018,"Unknown","N/A","N/A","PLD2","c.490-14_490-13insTC","NM_002663.4",null,null,"Intron","rs138503529,rs59096986,rs747956476",33.21,{"$nulls":8},"insTC"]
["02160816100201_XZ",6900362,17,"C","TT",155,"0;0","0;0","0;0","43;112","0;0","0;0",0,1,0,0,802,"Unknown","N/A","N/A","LOC100506713","c.337+16G>A","NR_040089.1",null,null,"Intron","rs2070589",100,{"$nulls":8},"A"]
["02160816100201_XZ",8024121,17,"C","CT",322,"0;0","68;95","1;0","73;85","0;1","0;0",0,1,0,0,1305,"Unknown","AR","SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL R... (OMIM:613686)","HES7","c.*768G>A","NM_032580.3",null,null,"Intron","rs1442849",49.07,{"$nulls":8},"A"]
["02160816100201_XZ",8151409,17,"T","GT",27,"0;0","0;0","0;6","12;8","0;0","0;1",0,1,0,0,4548,"Unknown",null,"CEREBRORETINAL MICROANGIOPATHY WITH CALC... (OMIM:612199)","CTC1","c.-55A>C","NM_025099.5",null,null,"Intron",null,22.22,{"$nulls":8},"C"]
["02160816100201_XZ",10541515,17,"C","CT",193,"2;0","45;45","0;0","50;51","0;0","0;0",0,1,0,1,4723,"Nonsynonymous","1.AD/2.AD/3.AD","ARTHROGRYPOSIS, DISTAL, TYPE 8 (OMIM:178110), ARTHROGRYPOSIS, DISTAL, TYPE 2B (OMIM:601680), ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)","MYH3","c.3574G>A","NM_002470.3","CDS25","p.A1192T","Exon","rs2285477",52.33,0.5939,0.3724,0.6899,0.377,{"$nulls":4},"A",{"$nulls":6},"T","B","B","P",-0.36,"Benign","not_specified"]
["02160816100201_XZ",10543282,17,"A","delAA",60,"17;10","0;2","0;0","0;1","0;0","21;9",0,0,0,0,4386,"Unknown","1.AD/2.AD/3.AD","ARTHROGRYPOSIS, DISTAL, TYPE 8 (OMIM:178110), ARTHROGRYPOSIS, DISTAL, TYPE 2B (OMIM:601680), ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)","MYH3","c.2682+30_2682+31delTT","NM_002470.3",null,null,"Intron","rs567462895,rs749556501",50,{"$nulls":8},"delTT"]
["02160816100201_XZ",12667582,17,"T","AT",266,"70;79","1;0","0;1","57;57","0;0","1;0",0,0,0,1,707,"Unknown","NA","N/A","MYOCD","c.*621T>A","NM_001146312.1",null,null,"Intron","rs8079605",56.02,{"$nulls":6},"A",0.1436,"A",0.1436]
["02160816100201_XZ",12895815,17,"C","TT",274,"0;0","0;0","0;0","134;134","0;0","5;1",0,1,0,0,1521,"Unknown","1.AR/2.易感","COMBINED OXIDATIVE PHOSPHORYLATION DEFIC... (OMIM:615440)","ELAC2","c.*320G>A","NM_018127.6",null,null,"Intron","rs2523",97.81,{"$nulls":8},"A"]
["02160816100201_XZ",14095566,17,"T","CT",342,"0;0","28;59","1;0","92;162","0;0","0;0",0,0,0,0,4793,"Unknown",null,"LEIGH SYNDROME (OMIM:256000), MITOCHONDRIAL COMPLEX IV DEFICIENCY (OMIM:220110)","COX10","c.928+28T>C","NM_001303.3",null,null,"Intron","rs151441",25.44,{"$nulls":8},"C"]
["02160816100201_XZ",17697094,17,"C","delCAG",213,"0;1","55;67","0;0","0;0","0;0","57;33",0,0,0,0,985,"In-frame","AD,散发","SMITH-MAGENIS SYNDROME (OMIM:182290)","RAI1","c.870_872delGCA","NM_030665.3","CDS1","p.Q291del","Exon","rs398124422,rs749836416,rs758128530",42.25,{"$nulls":8},"delGCA"]
["02160816100201_XZ",18024266,17,"T","GT",75,"0;0","0;0","30;12","24;9","0;0","0;0",0,0,0,1,6580,"Nonsynonymous","AR","DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESS... (OMIM:600316)","MYO15A","c.2152T>G","NM_016239.3","CDS1","p.W718G","Exon","rs2955367",56,0.44,0.6538,0.2756,0.5821,null,null,"G",0.496,"G",0.496,"CM1411116","NM_016239.3:c.2152T-G","missense/nonsense","DM?","Deafness","D","P","B","P",0.247,".","."]
["02160816100201_XZ",18041507,17,"C","TT",176,"1;0","0;2","0;0","99;74","0;0","0;0",0,0,0,0,6466,"Synonymous","AR","DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESS... (OMIM:600316)","MYO15A","c.4954C>T","NM_016239.3","CDS16","p.L1652L","Exon","rs2280777",98.3,{"$nulls":4},0.4786,0.5933,"T",0.4786,"T",0.4786]
["02160816100201_XZ",21308541,17,"G","CG",396,"1;1","64;104","106;120","0;0","0;0","0;0",0,0,0,1,1697,"Unknown","N/A","N/A","KCNJ12","c.-178-3290G>C","NM_021012.4",null,null,"Intron","rs3866978",42.42,{"$nulls":6},"C",0.482,"C",0.482]
["02160816100201_XZ",21308542,17,"G","AG",395,"64;104","0;0","107;120","0;0","0;0","0;0",0,0,0,1,1694,"Unknown","N/A","N/A","KCNJ12","c.-178-3289G>A","NM_021012.4",null,null,"Intron","rs3866979",42.53,{"$nulls":6},"A",0.482,"A",0.482]
["02160816100201_XZ",21318948,17,"C","CT",452,"0;0","134;154","0;0","74;90","0;0","0;0",0,0,0,0,7791,"Synonymous","N/A","N/A","KCNJ12","c.294C>T","NM_021012.4","CDS1","p.F98F","Exon","rs112314728",36.28,{"$nulls":8},"T"]
["02160816100201_XZ",21319845,17,"C","CT",331,"0;0","99;118","0;1","54;59","0;0","0;0",0,0,0,1,5924,"Synonymous","N/A","N/A","KCNJ12","c.1191C>T","NM_021012.4","CDS1","p.D397D","Exon","rs72846670",34.14,{"$nulls":6},"T",1.997E-4,"T",1.997E-4]
["02160816100201_XZ",21320350,17,"G","AG",100,"18;27","0;0","21;32","2;0","0;0","0;0",0,0,0,1,1588,"Unknown","N/A","N/A","KCNJ12","c.*394G>A","NM_021012.4",null,null,"Intron","rs73981226",45,{"$nulls":8},"A"]
["02160816100201_XZ",27069570,17,"C","AC",30,"1;8","19;1","0;0","0;0","0;0","0;1",0,1,0,0,63,"Unknown","1.NA/2.AR","NEPHRONOPHTHISIS 9 (OMIM:613824), RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)","NEK8","c.*565C>A","NM_178170.2",null,null,"Intron",null,30,{"$nulls":8},"A"]
["02160816100201_XZ",29422112,17,"C","CG",8,"0;0","0;6","2;0","0;0","0;0","0;0",1,1,0,0,29,"Unknown","1.N/A/2.AD/3.AD/4.AD/5.AD","JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785), NEUROFIBROMATOSIS, TYPE I (OMIM:162200), NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210), WATSON SYNDROME (OMIM:193520), NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)","NF1","c.-216C>G","NM_000267.3",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",29550593,17,"A","AT",9,"4;1","0;0","0;0","1;2","0;0","0;1",1,0,0,1,1,"Unknown","1.N/A/2.AD/3.AD/4.AD/5.AD","JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785), NEUROFIBROMATOSIS, TYPE I (OMIM:162200), NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210), WATSON SYNDROME (OMIM:193520), NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)","NF1","c.1845+8A>T","NM_000267.3",null,null,"Intron",null,33.33,{"$nulls":8},"T"]
["02160816100201_XZ",29664645,17,"T","AT",19,"1;3","0;0","0;0","3;12","0;0","0;0",0,0,0,0,1549,"splicing","1.N/A/2.AD/3.AD/4.AD/5.AD","JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785), NEUROFIBROMATOSIS, TYPE I (OMIM:162200), NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210), WATSON SYNDROME (OMIM:193520), NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)","NF1","c.6579+45T>A","NM_000267.3",null,null,"Intron","rs17883614",21.05,{"$nulls":4},0.1434,0.0804,"A",0.1434,"A",0.1434,"CS000884","c.6579+45T>A","splicing","DM?","Neurofibromatosis1"]
["02160816100201_XZ",29702000,17,"T","-",5,"0;0","0;0","0;0","1;1","0;0","3;0",1,1,0,0,0,"Unknown","1.N/A/2.AD/3.AD/4.AD/5.AD","JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785), NEUROFIBROMATOSIS, TYPE I (OMIM:162200), NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210), WATSON SYNDROME (OMIM:193520), NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)","NF1","-","NM_000267.3",null,null,"Intron",null,60,{"$nulls":8},"-"]
["02160816100201_XZ",31348196,17,"T","CT",9,"0;0","2;0","0;0","5;2","0;0","0;0",1,1,0,1,898,"Unknown",null,"N/A","ASIC2","c.1441+41A>G","NM_183377.1",null,null,"Intron",null,22.22,{"$nulls":8},"G"]
["02160816100201_XZ",33336743,17,"C","GG",72,"0;0","0;0","44;28","0;0","0;0","0;0",0,1,0,0,99,"Unknown",null,"N/A","RFFL","c.*2244G>C","NM_001017368.1",null,null,"Intron","rs74781433",100,{"$nulls":8},"C"]
["02160816100201_XZ",36047275,17,"C","CT",541,"1;0","131;136","0;0","125;148","1;0","0;0",0,1,0,0,7344,"Unknown","AD","RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700), RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920), DIABETES MELLITUS, NONINSULIN-DEPENDENT (OMIM:125853)","HNF1B","c.*100G>A","NM_000458.2",null,null,"Intron","rs1800929",50.46,{"$nulls":8},"A"]
["02160816100201_XZ",38572366,17,"G","AG",8,"0;2","0;0","2;4","0;0","0;0","0;0",1,1,0,0,3002,"Unknown",null,"N/A","TOP2A","c.269-46C>T","NM_001067.3",null,null,"Intron","rs2586112",25,{"$nulls":8},"T"]
["02160816100201_XZ",38975315,17,"T","-",60,"0;0","1;1","0;0","25;10","0;0","16;7",0,0,0,1,3950,"In-frame",null,"EPIDERMOLYTIC HYPERKERATOSIS (OMIM:113800), ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC H... (OMIM:607602), ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL ... (OMIM:609165)","KRT10","-","NM_000421.3","CDS7",null,"Exon","rs770927933,rs771884630,rs775234020,rs778613907,rs779118445",38.33,{"$nulls":8},"-"]
["02160816100201_XZ",39942919,17,"T","CC",123,"0;0","63;60","0;0","0;0","0;0","0;0",0,1,0,1,1242,"Unknown",null,"NAXOS DISEASE (OMIM:601214), ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLAS... (OMIM:611528)","JUP","c.-88A>G","NM_002230.2",null,null,"Intron","rs4796702",100,{"$nulls":8},"G"]
["02160816100201_XZ",41064993,17,"G","GT",10,"0;0","0;0","5;0","4;0","0;0","1;0",0,1,0,0,18,"Unknown","1.AR","GLYCOGEN STORAGE DISEASE IA (OMIM:232200)","G6PC","c.*1550G>T","NM_000151.3",null,null,"Intron",null,40,{"$nulls":8},"T"]
["02160816100201_XZ",42422752,17,"G","insG",147,"0;0","0;0","18;129","0;0","16;119","0;0",0,1,0,1,2380,"Unknown","1.AD/2.AR","CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706), FRONTOTEMPORAL LOBAR DEGENERATION WITH T... (OMIM:607485)","GRN","c.-8+50_-8+51insG","NM_002087.2",null,null,"Intron","rs11398947,rs398030918",91.84,{"$nulls":8},"insG"]
["02160816100201_XZ",42928054,17,"T","CT",473,"0;1","110;102","0;0","114;144","0;0","2;0",0,1,0,0,1811,"Unknown","AD","MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEID... (OMIM:610536)","EFTUD2","c.*588A>G","NM_004247.3",null,null,"Intron","rs2304986",44.82,{"$nulls":8},"G"]
["02160816100201_XZ",43192550,17,"C","insC",252,"0;0","98;154","0;0","0;0","94;148","0;0",0,0,0,0,3085,"FS",null,"N/A","PLCD3","c.1622_1623insG","NM_133373.3","CDS10","p.R541delinsRTfs","Exon","rs35911033",96.03,{"$nulls":8},"insG"]
["02160816100201_XZ",44841209,17,"A","CC",101,"3;16","41;41","0;0","0;0","0;0","0;0",0,1,0,0,120,"Unknown","1AR","TETRAAMELIA, AUTOSOMAL RECESSIVE (OMIM:273395)","WNT3","c.*787T>G","NM_030753.4",null,null,"Intron","rs35359801",81.19,{"$nulls":8},"G"]
["02160816100201_XZ",45364395,17,"T","-",129,"0;0","0;0","0;0","38;21","0;0","40;30",0,0,0,1,2978,"Unknown",null,"GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMI... (OMIM:187800), GLANZMANN THROMBASTHENIA (OMIM:273800), INTEGRIN, BETA-3 (OMIM:173470)","ITGB3","-","NM_000212.2",null,null,"Intron",null,54.26,{"$nulls":8},"-"]
["02160816100201_XZ",47000251,17,"C","CT",246,"1;0","64;76","1;0","52;51","0;0","0;1",0,0,0,0,2889,"Synonymous",null,"N/A","UBE2Z","c.846C>T","NM_023079.4","CDS6","p.Y282Y","Exon","rs1058018",41.87,{"$nulls":4},0.6348,0.747,"C",0.3652,"T",0.6348]
["02160816100201_XZ",48262615,17,"A","AT",32,"11;11","1;0","0;1","0;8","0;0","0;0",0,1,0,0,117,"Unknown","1.2.3.4.6.7.8.AD","OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200), OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220), CAFFEY DISEASE (OMIM:114000), EHLERS-DANLOS SYNDROME, TYPE I (OMIM:130000), OSTEOGENESIS IMPERFECTA, TYPE IIA (OMIM:166210), OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420), EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSO... (OMIM:130060)","COL1A1","c.*248T>A","NM_000088.3",null,null,"Intron","rs879149993",25,{"$nulls":8},"A"]
["02160816100201_XZ",48276971,17,"G","CC",203,"0;0","59;143","0;0","1;0","0;0","0;0",0,1,0,0,6743,"Unknown","1.2.3.4.6.7.8.AD","OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200), OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220), CAFFEY DISEASE (OMIM:114000), EHLERS-DANLOS SYNDROME, TYPE I (OMIM:130000), OSTEOGENESIS IMPERFECTA, TYPE IIA (OMIM:166210), OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420), EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSO... (OMIM:130060)","COL1A1","c.299-20C>G","NM_000088.3",null,null,"Intron","rs2256835",99.51,{"$nulls":8},"G"]
["02160816100201_XZ",48277074,17,"G","-",43,"0;0","0;0","1;1","0;0","0;0","22;19",0,0,0,0,6540,"Unknown","1.2.3.4.6.7.8.AD","OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200), OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220), CAFFEY DISEASE (OMIM:114000), EHLERS-DANLOS SYNDROME, TYPE I (OMIM:130000), OSTEOGENESIS IMPERFECTA, TYPE IIA (OMIM:166210), OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420), EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSO... (OMIM:130060)","COL1A1","-","NM_000088.3",null,null,"Intron","rs150854949,rs531119562,rs756885934,rs769664795",95.35,{"$nulls":8},"-"]
["02160816100201_XZ",48646377,17,"T","insG",86,"0;0","0;0","4;1","40;41","25;26","0;0",0,0,1,0,749,"Unknown",null,"N/A","CACNA1G","c.354+34_354+35insG","NM_018896.4",null,null,"Intron","rs58450142",59.3,{"$nulls":8},"insG"]
["02160816100201_XZ",59477703,17,"G","AG",7,"0;2","0;0","3;2","0;0","0;0","0;0",1,1,0,0,18,"Nonsynonymous",null,"N/A","TBX2","c.166G>A","NM_005994.3","CDS1","p.G56S","Exon",null,28.57,"NA","NA","NA","NA",{"$nulls":4},"A",{"$nulls":6},"T","B","B","D",-0.483,".","."]
["02160816100201_XZ",61562774,17,"T","CT",291,"0;0","46;93","4;0","47;101","0;0","0;0",0,0,0,1,6246,"Unknown",null,"RENAL TUBULAR DYSGENESIS (OMIM:267430)","ACE","c.2058+41T>C","NM_000789.3",null,null,"Intron","rs4321",47.77,{"$nulls":4},0.5298,0.6756,"T",0.4702,"C",0.5298]
["02160816100201_XZ",62041068,17,"T","CC",229,"1;0","115;111","1;0","0;1","0;0","0;0",0,1,0,0,8197,"Nonsynonymous","1.AD/2.AD/3.AD/4.AD/5.AD","HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345), PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300), MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390), HYPERKALEMIC PERIODIC PARALYSIS (OMIM:170500), MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)","SCN4A","c.1570A>G","NM_000334.4","CDS10","p.S524G","Exon","rs6504191",98.69,0.9409,1,0.9259,0.9994,{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-2.026,"Benign","not_specified"]
["02160816100201_XZ",65051180,17,"A","GG",219,"0;1","1;0","122;95","0;0","0;1","0;0",0,0,0,0,3015,"Unknown",null,"N/A","CACNG1","c.305-39A>G","NM_000727.3",null,null,"Intron","rs2363844",99.09,{"$nulls":4},0.7171,0.869,"A",0.2829,"G",0.7171]
["02160816100201_XZ",68131165,17,"G","GT",13,"0;0","0;0","3;6","4;0","0;0","0;0",0,1,0,0,554,"Unknown",null,"N/A","KCNJ16","c.*1680G>T","NM_018658.2",null,null,"Intron","rs919390123",30.77,{"$nulls":8},"T"]
["02160816100201_XZ",68175212,17,"T","GT",9,"0;0","0;0","2;0","2;5","0;0","0;0",1,1,0,1,1,"Unknown",null,"ATRIAL FIBRILLATION, FAMILIAL, 9 (OMIM:613980), ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARA... (OMIM:170390), SHORT QT SYNDROME 3 (OMIM:609622)","KCNJ2","c.*2748T>G","NM_000891.2",null,null,"Intron",null,22.22,{"$nulls":8},"G"]
["02160816100201_XZ",73049228,17,"G","AG",258,"48;83","1;0","45;81","0;0","0;0","0;0",0,0,0,0,2565,"Unknown",null,"N/A","KCTD2","c.540+28G>A","NM_015353.1",null,null,"Intron","rs60660596",50.78,{"$nulls":4},0.2109,0.6002,"A",0.2109,"A",0.2109]
["02160816100201_XZ",78013724,17,"G","CC",296,"2;0","175;117","2;0","0;0","0;0","0;0",0,0,0,0,7192,"Synonymous","NA","CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)","CCDC40","c.207G>C","NM_017950.3","CDS3","p.V69V","Exon","rs2289527",98.65,{"$nulls":6},"G",0.04273,"C",0.9573]
["02160816100201_XZ",78188963,17,"G","AA",120,"48;71","0;0","1;0","0;0","0;0","0;0",0,1,0,0,6460,"Unknown","AR","MUCOPOLYSACCHARIDOSIS TYPE IIIA (OMIM:252900)","SGSH","c.250-26C>T","NM_000199.3",null,null,"Intron","rs4889839",99.17,{"$nulls":8},"T"]
["02160816100201_XZ",3066944,18,"T","CT",453,"0;0","102;123","1;0","106;120","0;0","1;0",0,1,0,0,742,"Unknown","NA","N/A","MYOM1","c.*316A>G","NM_003803.3",null,null,"Intron","rs1042731",49.67,{"$nulls":8},"G"]
["02160816100201_XZ",6985655,18,"C","TT",89,"0;0","1;0","0;0","37;51","0;0","0;0",0,1,0,0,8152,"Unknown","N/A","PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)","LAMA1","c.5380-13G>A","NM_005559.3",null,null,"Intron","rs617573",98.88,{"$nulls":8},"A"]
["02160816100201_XZ",10705744,18,"G","AG",323,"56;86","0;0","67;114","0;0","0;0","0;0",0,1,0,0,5016,"Synonymous","1.2AD","MARDEN-WALKER SYNDROME (OMIM:248700), ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145), ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)","PIEZO2","c.5250C>T","NM_022068.2","CDS37","p.S1750S","Exon","rs7227022",43.96,{"$nulls":8},"T"]
["02160816100201_XZ",18529837,18,"C","TT",44,"0;0","0;0","0;0","21;23","0;0","0;0",0,1,0,0,545,"Unknown","N/A","N/A","ROCK1","c.*1508G>A","NM_005406.2",null,null,"Intron","rs12372",100,{"$nulls":8},"A"]
["02160816100201_XZ",18529872,18,"A","AG",58,"24;18","0;0","9;7","0;0","0;0","0;0",0,1,0,0,482,"Unknown","N/A","N/A","ROCK1","c.*1473T>C","NM_005406.2",null,null,"Intron","rs72879404",27.59,{"$nulls":8},"C"]
["02160816100201_XZ",19449794,18,"T","AT",9,"2;0","0;0","0;0","2;5","0;0","0;0",1,1,0,1,2,"Unknown",null,"LEFT VENTRICULAR NONCOMPACTION 7 (OMIM:615092)","MIB1","c.*5167T>A","NM_020774.3",null,null,"Intron",null,22.22,{"$nulls":8},"A"]
["02160816100201_XZ",19449802,18,"T","AT",8,"2;0","0;0","0;0","1;5","0;0","0;0",1,1,0,0,0,"Unknown",null,"LEFT VENTRICULAR NONCOMPACTION 7 (OMIM:615092)","MIB1","c.*5175T>A","NM_020774.3",null,null,"Intron",null,25,{"$nulls":8},"A"]
["02160816100201_XZ",21119777,18,"G","AA",163,"95;64","0;1","1;2","0;0","0;0","0;0",0,1,0,1,6816,"Synonymous","1.AR/2.AR/3.N/A","NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)","NPC1","c.2793C>T","NM_000271.4","CDS18","p.N931N","Exon","rs1140458",97.55,{"$nulls":8},"T"]
["02160816100201_XZ",25570228,18,"G","CC",277,"1;1","114;155","3;0","3;0","0;0","0;0",0,1,0,0,3078,"Synonymous",null,"N/A","CDH2","c.1431C>G","NM_001792.3","CDS10","p.P477P","Exon","rs1628684",97.11,{"$nulls":8},"G"]
["02160816100201_XZ",28648999,18,"C","-",266,"1;0","73;93","0;0","0;0","0;0","44;55",0,0,0,0,289,"In-frame","AD/AR","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLAS... (OMIM:610476)","DSC2","-","NM_024422.3","CDS15",null,"Exon",null,37.22,{"$nulls":8},"-",null,"CD102853","NM_024422.4:c.2368_2370delGGA","deletions","DM","Arrhythmogenicright ventricular dysplasia/cardiomyopathy"]
["02160816100201_XZ",28916285,18,"A","AC",18,"12;2","0;4","0;0","0;0","0;0","0;0",0,1,0,0,2,"Unknown","1.AR/2.AD","PALMOPLANTAR KERATODERMA I, STRIATE, FOC... (OMIM:148700), ERYTHRODERMA, CONGENITAL, WITH PALMOPLAN... (OMIM:615508)","DSG1","c.1006-32A>C","NM_001942.2",null,null,"Intron",null,22.22,{"$nulls":8},"C"]
["02160816100201_XZ",29127639,18,"C","AC",18,"0;4","11;3","0;0","0;0","0;1","0;0",0,1,0,0,10,"Unknown","1.AD/2.易感","CARDIOMYOPATHY, DILATED, 1BB (OMIM:612877), ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLAS... (OMIM:610193)","DSG2","c.*933C>A","NM_001943.3",null,null,"Intron",null,22.22,{"$nulls":8},"A"]
["02160816100201_XZ",29128354,18,"T","CT",8,"0;0","0;2","0;0","4;2","0;0","0;0",1,1,0,1,1,"Unknown","1.AD/2.易感","CARDIOMYOPATHY, DILATED, 1BB (OMIM:612877), ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLAS... (OMIM:610193)","DSG2","c.*1648T>C","NM_001943.3",null,null,"Intron",null,25,{"$nulls":8},"C"]
["02160816100201_XZ",29648999,18,"A","AG",7,"0;5","0;0","0;2","0;0","0;0","0;0",1,1,0,1,3,"Unknown",null,"TENORIO SYNDROME (OMIM:616260)","RNF125","c.*652A>G","NM_017831.3",null,null,"Intron",null,28.57,{"$nulls":8},"G"]
["02160816100201_XZ",42533315,18,"T","AT",177,"19;50","0;1","0;0","35;72","0;0","0;0",0,0,0,1,2844,"Unknown","1.AD/2.AD","SCHINZEL-GIEDION MIDFACE RETRACTION SYND... (OMIM:269150), MENTAL RETARDATION, AUTOSOMAL DOMINANT 2... (OMIM:616078)","SETBP1","c.4000+10T>A","NM_015559.2",null,null,"Intron","rs3786177",38.98,{"$nulls":4},0.1186,0.1895,"A",0.1186,"A",0.1186]
["02160816100201_XZ",45359414,18,"A","-",17,"11;2","0;0","0;0","0;0","0;0","0;4",0,1,0,0,0,"Unknown",null,"N/A","N/A","-",{"$nulls":3},"Intron",null,23.53,{"$nulls":8},"-"]
["02160816100201_XZ",47117174,18,"T","CT",335,"2;1","65;79","0;0","83;105","0;0","0;0",0,0,0,0,920,"Unknown",null,"N/A","LIPG","c.*282T>C","NM_006033.2",null,null,"Intron","rs3744843",42.99,{"$nulls":6},"C",0.1743,"C",0.1743]
["02160816100201_XZ",47349739,18,"G","GT",80,"0;0","0;0","27;27","14;12","0;0","0;0",0,1,0,0,953,"Unknown","AR","DIARRHEA 2, WITH MICROVILLOUS ATROPHY (OMIM:251850)","MYO5B","c.*3102C>A","NM_001080467.2",null,null,"Intron","rs113215300",32.5,{"$nulls":8},"A"]
["02160816100201_XZ",47352677,18,"A","AC",60,"27;20","7;6","0;0","0;0","0;0","0;0",0,1,0,0,346,"Unknown","AR","DIARRHEA 2, WITH MICROVILLOUS ATROPHY (OMIM:251850)","MYO5B","c.*164T>G","NM_001080467.2",null,null,"Intron","rs3208550",21.67,{"$nulls":8},"G"]
["02160816100201_XZ",47787402,18,"G","AG",40,"14;13","0;0","7;6","0;0","0;0","0;0",0,1,0,0,6629,"Unknown","AR","N/A","CCDC11","c.473+32C>T","NM_145020.3",null,null,"Intron","rs1899671",67.5,{"$nulls":8},"T"]
["02160816100201_XZ",48610382,18,"G","-",85,"0;0","0;0","9;5","0;1","0;1","34;36",0,0,0,1,1304,"Unknown","N/A","JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGI... (OMIM:175050), MYHRE SYNDROME (OMIM:139210), PANCREATIC CANCER (OMIM:260350), JUVENILE POLYPOSIS SYNDROME (OMIM:174900)","SMAD4","-","NM_005359.5",null,null,"Intron","rs1016391274,rs144218127,rs746980771,rs749345012,rs762428135,rs773673392,rs775710169,rs878921195,rs878968669,rs879232086,rs886053923,rs886053924,rs886053925,rs886053926,rs886053928,rs886053929,rs897584534,rs932884558",82.35,{"$nulls":8},"-"]
["02160816100201_XZ",55213381,18,"C","AA",265,"159;106","0;0","0;0","0;0","0;0","0;0",0,1,0,1,917,"Unknown","1.AR","PROTOPORPHYRIA, ERYTHROPOIETIC (OMIM:177000)","FECH","c.*4563G>T","NM_000140.3",null,null,"Intron","rs663774",100,{"$nulls":8},"T"]
["02160816100201_XZ",56066416,18,"T","CC",272,"0;0","111;161","0;0","0;0","0;0","0;0",0,0,0,0,1650,"Unknown","NA","N/A","NEDD4L","c.*2915T>C","NM_015277.5",null,null,"Intron","rs1893859",100,{"$nulls":6},"T",0.0007987,"C",0.9992]
["02160816100201_XZ",57099366,18,"T","GT",13,"0;0","0;0","2;1","7;2","0;0","1;0",0,1,0,0,1,"Unknown","AR","HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYN... (OMIM:235510)","CCBE1","c.*3774A>C","NM_133459.3",null,null,"Intron",null,23.08,{"$nulls":8},"C"]
["02160816100201_XZ",59712911,18,"A","insA",112,"57;52","0;1","0;0","0;0","28;21","0;2",0,0,0,0,3642,"Unknown","AR","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-... (OMIM:614080)","PIGN","c.*178_*179insT","NM_176787.4",null,null,"Intron","rs3833870,rs397742223,rs397757239",43.75,{"$nulls":8},"insT"]
["02160816100201_XZ",64171529,18,"T","insT",18,"0;0","0;0","0;0","7;11","1;6","0;0",0,0,0,1,286,"Unknown",null,"N/A","CDH19","c.*520_*521insA","NM_021153.3",null,null,"Intron",null,38.89,{"$nulls":8},"insA"]
["02160816100201_XZ",72187612,18,"C","CT",243,"2;0","48;81","0;0","43;69","0;0","0;0",0,0,0,0,2483,"Unknown",null,"N/A","CNDP2","c.*309C>T","NM_018235.2",null,null,"Intron","rs890336",46.09,{"$nulls":6},"C",0.1106,"T",0.8894]
["02160816100201_XZ",74534637,18,"C","delC",9,"0;0","1;6","0;0","0;0","0;0","2;0",1,1,0,1,2,"Unknown",null,"N/A","N/A","c.-198-1477delC",{"$nulls":3},"Intron",null,22.22,{"$nulls":8},"delC"]
["02160816100201_XZ",77733273,18,"C","TT",311,"0;0","0;0","0;0","150;161","0;0","0;0",0,1,0,0,945,"Unknown",null,"BURN-MCKEOWN SYNDROME (OMIM:608572)","TXNL4A","c.*412G>A","NM_006701.2",null,null,"Intron","rs4798931",100,{"$nulls":8},"A"]
["02160816100201_XZ",77793957,18,"A","AC",34,"9;16","7;1","0;0","0;0","0;0","0;1",0,1,0,0,743,"Unknown",null,"N/A","N/A","c.-150-389A>C",{"$nulls":3},"Intron",null,23.53,{"$nulls":8},"C"]
["02160816100201_XZ",1032369,19,"C","TT",356,"0;0","0;0","0;1","217;138","0;0","0;0",0,0,0,1,2998,"Unknown",null,"N/A","CNN2","c.186-22C>T","NM_004368.2",null,null,"Intron","rs10401325",99.72,{"$nulls":4},0.771,0.8948,"C",0.229,"T",0.771]
["02160816100201_XZ",1205862,19,"G","CG",4,"0;0","2;0","0;2","0;0","0;0","0;0",1,1,0,0,3,"Unknown","N/A","TESTICULAR TUMORSTESTICULAR GERM CELL TU... (OMIM:273300), PEUTZ-JEGHERS SYNDROME (OMIM:175200), PANCREATIC CANCER (OMIM:260350)","STK11","c.-1051G>C","NM_000455.4",null,null,"Intron",null,50,{"$nulls":8},"C"]
["02160816100201_XZ",3094573,19,"G","delGGC",7,"0;0","0;0","3;2","0;0","0;0","0;2",1,1,0,1,1,"Unknown",null,"HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, T... (OMIM:145981), HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 (OMIM:615361)","GNA11","c.-74_-72delGGC","NM_002067.2",null,null,"Intron",null,28.57,{"$nulls":8},"delGGC"]
["02160816100201_XZ",3122718,19,"C","AA",274,"131;138","1;4","0;0","0;0","0;0","0;0",0,0,0,1,500,"Unknown",null,"N/A","N/A","c.*291+1250C>A",{"$nulls":3},"Intron","rs113263228",98.18,{"$nulls":6},"A",0.1058,"A",0.1058]
["02160816100201_XZ",5891248,19,"G","AA",3,"2;1","0;0","0;0","0;0","0;0","0;0",1,0,0,1,1664,"Unknown",null,"N/A","N/A","c.*1641+39G>A",{"$nulls":3},"Intron","rs1678865",100,{"$nulls":6},"G",0.4235,"A",0.5765]
["02160816100201_XZ",5904069,19,"G","AG",65,"13;19","0;0","9;24","0;0","0;0","0;0",0,0,0,0,5001,"Unknown",null,"N/A","N/A","c.-305-45G>A",{"$nulls":3},"Intron","rs6510862",49.23,{"$nulls":4},0.7222,0.7371,"G",0.2778,"A",0.7222]
["02160816100201_XZ",8645786,19,"A","CC",159,"0;0","93;65","0;0","0;0","0;0","0;1",0,1,0,0,7888,"Nonsynonymous",null,"WEILL-MARCHESANI SYNDROME, AUTOSOMAL REC... (OMIM:277600)","ADAMTS10","c.3303T>G","NM_030957.2","CDS24","p.H1101Q","Exon","rs7252299",99.37,0.9995,1,0.9994,0.9999,{"$nulls":4},"G",{"$nulls":6},"T","B","B","P",-0.232,".","."]
["02160816100201_XZ",10273298,19,"A","-",21,"8;3","0;0","0;0","0;0","0;0","8;2",0,0,0,0,5365,"Unknown","1.AD/2.AD","CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLE... (OMIM:604121), NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)","DNMT1","-","NM_001130823.1",null,null,"Intron","rs749172937,rs751562634,rs767624763,rs781298913,rs903664486",47.62,{"$nulls":8},"-"]
["02160816100201_XZ",11233941,19,"A","AG",373,"122;100","0;2","89;60","0;0","0;0","0;0",0,0,0,0,7419,"Synonymous",null,"HYPERCHOLESTEROLEMIA, FAMILIAL (OMIM:143890)","LDLR","c.2232A>G","NM_000527.4","CDS15","p.R744R","Exon","rs5927",39.95,{"$nulls":4},0.7802,0.9554,"A",0.2198,"G",0.7802]
["02160816100201_XZ",11314814,19,"T","-",117,"0;0","0;0","0;3","34;17","0;0","42;21",0,0,0,0,5919,"Unknown","AR","ADAMS-OLIVER SYNDROME 2 (OMIM:614219)","DOCK6","-","NM_020812.3",null,null,"Intron",null,53.85,{"$nulls":8},"-"]
["02160816100201_XZ",11314819,19,"A","-",117,"33;18","0;0","0;3","0;0","0;0","42;21",0,0,0,1,5910,"Unknown","AR","ADAMS-OLIVER SYNDROME 2 (OMIM:614219)","DOCK6","-","NM_020812.3",null,null,"Intron",null,53.85,{"$nulls":8},"-"]
["02160816100201_XZ",11373037,19,"T","GT",7,"0;0","0;0","0;3","4;0","0;0","0;0",1,1,0,0,1447,"Unknown","AR","ADAMS-OLIVER SYNDROME 2 (OMIM:614219)","DOCK6","c.44+36A>C","NM_020812.3",null,null,"Intron",null,42.86,{"$nulls":8},"C"]
["02160816100201_XZ",13002033,19,"A","GG",240,"1;0","0;0","120;119","0;0","0;0","0;0",0,0,0,1,3888,"Unknown","1.AR","GLUTARIC ACIDEMIA I (OMIM:231670)","GCDH","c.-35+17A>G","NM_000159.3",null,null,"Intron","rs7251834",99.58,{"$nulls":6},"A",0.02216,"G",0.9778]
["02160816100201_XZ",13002400,19,"G","CC",368,"0;0","153;214","1;0","0;0","0;0","0;0",0,0,0,1,2204,"Unknown","1.AR","GLUTARIC ACIDEMIA I (OMIM:231670)","GCDH","c.127+64G>C","NM_000159.3",null,null,"Intron","rs1799918",99.73,{"$nulls":4},0.2532,0.1478,"C",0.2532,"C",0.2532]
["02160816100201_XZ",13317763,19,"T","-",10,"0;0","0;0","0;0","5;2","0;0","0;3",0,1,0,0,820,"Unknown","略","SPINOCEREBELLAR ATAXIA 6 (OMIM:183086), EPISODIC ATAXIA, TYPE 2 (OMIM:108500), MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)","CACNA1A","-","NM_001127221.1",null,null,"Intron",null,30,{"$nulls":8},"-"]
["02160816100201_XZ",13356055,19,"T","CT",273,"0;0","55;75","2;0","57;83","0;0","1;0",0,1,0,0,16,"Nonsynonymous","略","SPINOCEREBELLAR ATAXIA 6 (OMIM:183086), EPISODIC ATAXIA, TYPE 2 (OMIM:108500), MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)","CACNA1A","c.4894A>G","NM_001127221.1","CDS31","p.I1632V","Exon","rs539463134",47.62,"NA","NA",1E-4,0.0013,{"$nulls":4},"G",{"$nulls":6},"T","B","B","D",0.379,".","."]
["02160816100201_XZ",15271771,19,"G","AG",80,"11;23","0;0","13;33","0;0","1;0","0;0",0,1,0,0,6446,"Nonsynonymous","1.AD/2.AD/3.AD","CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINAN... (OMIM:125310), LATERAL MENINGOCELE SYNDROME (OMIM:130720), MYOFIBROMATOSIS, INFANTILE, 2 (OMIM:615293)","NOTCH3","c.6668C>T","NM_000435.2","CDS33","p.A2223V","Exon","rs1044009",42.5,0.631,0.5734,0.6937,0.6421,{"$nulls":4},"T",{"$nulls":6},"T","B","B","P",0.467,".","."]
["02160816100201_XZ",15290125,19,"G","AG",324,"68;65","0;0","90;101","0;0","0;0","0;0",0,1,0,0,6263,"Unknown","1.AD/2.AD/3.AD","CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINAN... (OMIM:125310), LATERAL MENINGOCELE SYNDROME (OMIM:130720), MYOFIBROMATOSIS, INFANTILE, 2 (OMIM:615293)","NOTCH3","c.3461-32C>T","NM_000435.2",null,null,"Intron","rs56061231",41.05,{"$nulls":8},"T"]
["02160816100201_XZ",16008388,19,"A","AC",193,"46;81","17;49","0;0","0;0","0;0","0;0",0,1,0,0,1159,"Nonsynonymous","N/A","N/A","CYP4F2","c.34T>G","NM_001082.3","CDS1","p.W12G","Exon","rs3093105",34.2,0.1571,0.0717,0.1601,0.0918,{"$nulls":4},"G",null,"CM109443","NM_001082.4:c.34T-G","missense/nonsense","FP","Increasedvitamin E-{omega}-hydroxylase activity to tocopherols","T","B","B","P",-0.346,".","."]
["02160816100201_XZ",17994605,19,"A","AG",37,"18;6","0;0","2;11","0;0","0;0","0;0",0,0,0,0,2692,"Unknown","AR","THYROID HORMONOGENESIS, GENETIC DEFECT I... (OMIM:274400)","SLC5A5","c.1329+29A>G","NM_000453.2",null,null,"Intron","rs377617583",35.14,{"$nulls":8},"G"]
["02160816100201_XZ",18705012,19,"A","AC",64,"17;31","16;0","0;0","0;0","0;0","0;0",0,1,0,1,1250,"Unknown",null,"COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)","CRLF1","c.1212+45T>G","NM_004750.4",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",18979794,19,"A","AT",10,"3;3","0;0","0;0","0;4","0;0","0;0",0,1,0,0,3,"Nonsynonymous","略","TETRALOGY OF FALLOT (OMIM:187500), CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095), TRANSPOSITION OF THE GREAT ARTERIES, DEX... (OMIM:613854), RIGHT ATRIAL ISOMERISM (OMIM:208530)","GDF1","c.731T>A","NM_001492.4","CDS2","p.L244Q","Exon",null,40,"NA","NA","NA","NA",{"$nulls":4},"A",{"$nulls":6},"T",".",".","D",0.387,".","."]
["02160816100201_XZ",19006666,19,"G","CG",24,"0;0","4;9","4;7","0;0","0;0","0;0",0,0,0,1,1661,"Synonymous","N/A","EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)","CERS1","c.216C>G","NM_021267.3","CDS1","p.A72A","Exon","rs3746263",54.17,{"$nulls":8},"G"]
["02160816100201_XZ",36246418,19,"C","CG",137,"0;0","24;39","30;44","0;0","0;0","0;0",0,0,0,0,1271,"Unknown",null,"N/A","HSPB6","c.*5G>C","NM_144617.2",null,null,"Intron","rs11549030",54.01,{"$nulls":8},"C"]
["02160816100201_XZ",38819265,19,"A","-",30,"0;11","0;0","0;0","0;0","0;0","3;16",0,0,0,0,356,"Unknown","N/A","N/A","KCNK6","-","NM_004823.1",null,null,"Intron",null,63.33,{"$nulls":8},"-"]
["02160816100201_XZ",38949904,19,"C","TT",275,"0;0","0;2","2;0","137;134","0;0","0;0",0,0,0,0,6537,"Synonymous",null,"MINICORE MYOPATHY WITH EXTERNAL OPHTHALM... (OMIM:255320), CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000), MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY T... (OMIM:145600)","RYR1","c.2286C>T","NM_000540.2","CDS19","p.P762P","Exon","rs3745847",98.55,{"$nulls":4},0.5541,0.5933,"C",0.4459,"T",0.5541]
["02160816100201_XZ",38995510,19,"T","CT",366,"0;0","99;95","0;0","92;80","0;0","0;0",0,0,0,0,4752,"Synonymous",null,"MINICORE MYOPATHY WITH EXTERNAL OPHTHALM... (OMIM:255320), CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000), MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY T... (OMIM:145600)","RYR1","c.8190T>C","NM_000540.2","CDS51","p.D2730D","Exon","rs2915951",53.01,{"$nulls":4},0.4171,0.3532,"C",0.4171,"C",0.4171]
["02160816100201_XZ",39063879,19,"G","AG",365,"89;100","0;0","80;96","0;0","0;0","0;0",0,0,0,0,60,"Synonymous",null,"MINICORE MYOPATHY WITH EXTERNAL OPHTHALM... (OMIM:255320), CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000), MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY T... (OMIM:145600)","RYR1","c.14061G>A","NM_000540.2","CDS96","p.L4687L","Exon","rs201629205",51.78,{"$nulls":4},2.8E-3,0.0119,"A",0.002796,"A",0.002796]
["02160816100201_XZ",39967317,19,"G","-",93,"0;0","0;0","24;27","0;0","1;0","9;33",0,0,0,0,529,"Unknown",null,"N/A","N/A","-",{"$nulls":3},"Intron","rs375551179",45.16,{"$nulls":8},"-"]
["02160816100201_XZ",42875009,19,"G","AG",17,"4;2","0;1","8;0","0;0","0;0","2;0",0,1,0,1,25,"Unknown",null,"CARPENTER SYNDROME 2 (OMIM:614976)","MEGF8","c.6935+26G>A","NM_001410.2",null,null,"Intron",null,35.29,{"$nulls":8},"A"]
["02160816100201_XZ",45449284,19,"T","GG",213,"0;0","0;0","103;109","0;1","0;0","0;0",0,0,0,0,115,"Unknown","N/A","N/A","APOC4-APOC2","c.*191+531T>G","NR_037932.1",null,null,"Intron","rs2288911",99.53,{"$nulls":6},"T",0.3343,"G",0.6657]
["02160816100201_XZ",45912343,19,"A","GG",180,"2;0","0;1","73;104","0;0","0;0","0;0",0,0,0,0,5125,"Nonsynonymous","N/A","N/A","CD3EAP","c.1117A>G","NM_012099.1","CDS3","p.K373E","Exon","rs762562",98.33,0.261,0.4528,0.2072,0.4453,0.2867,0.4613,"G",0.2867,"G",0.2867,{"$nulls":5},"T","B","B","P",-0.215,".","."]
["02160816100201_XZ",48799716,19,"A","AG",149,"51;37","0;0","43;18","0;0","0;0","0;0",0,1,0,0,839,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)","CCDC114","c.*517T>C","NM_144577.3",null,null,"Intron","rs2292112",40.94,{"$nulls":8},"C"]
["02160816100201_XZ",50321858,19,"G","AG",355,"46;106","1;0","76;126","0;0","0;0","0;0",0,0,0,0,958,"Synonymous",null,"BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449), CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYP... (OMIM:605589)","MED25","c.165G>A","NM_030973.3","CDS2","p.T55T","Exon","rs77400039",42.82,{"$nulls":4},0.0473,0.0645,"A",0.04732,"A",0.04732]
["02160816100201_XZ",50818880,19,"C","AC",10,"2;3","3;2","0;0","0;0","0;0","0;0",0,1,0,0,406,"Unknown",null,"SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)","KCNC3","c.*492G>T","NM_004977.2",null,null,"Intron","rs9917109",50,{"$nulls":8},"T"]
["02160816100201_XZ",53643326,19,"T","CT",11,"0;0","0;3","0;0","7;1","0;0","0;0",0,1,0,0,1,"Unknown",null,"N/A","ZNF347","c.*235A>G","NM_001172675.1",null,null,"Intron",null,27.27,{"$nulls":8},"G"]
["02160816100201_XZ",54314585,19,"G","AG",169,"29;45","0;0","38;57","0;0","0;0","0;0",0,1,0,1,6794,"Unknown","AD","FAMILIAL COLD AUTOINFLAMMATORY SYNDROME ... (OMIM:611762)","NLRP12","c.371-43C>T","NM_144687.3",null,null,"Intron","rs6509827",43.79,{"$nulls":8},"T"]
["02160816100201_XZ",54488289,19,"C","AC",281,"91;54","82;52","0;0","1;1","0;0","0;0",0,0,0,0,650,"Unknown",null,"N/A","CACNG8","c.*2186C>A","NM_031895.5",null,null,"Intron","rs4806678",51.6,{"$nulls":6},"C",0.3037,"A",0.6963]
["02160816100201_XZ",54491853,19,"C","AC",25,"0;6","18;1","0;0","0;0","0;0","0;0",0,1,0,0,4,"Unknown",null,"N/A","CACNG8","c.*5750C>A","NM_031895.5",null,null,"Intron",null,24,{"$nulls":8},"A"]
["02160816100201_XZ",55530035,19,"C","TT",200,"0;0","1;2","0;0","101;96","0;0","0;0",0,1,0,0,7012,"Nonsynonymous","1.AR","BLEEDING DISORDER, PLATELET-TYPE, 11 (OMIM:614201)","GP6","c.709G>A","NM_001083899.1","CDS6","p.E237K","Exon","rs1654416",98.5,0.7825,0.8199,0.8005,0.8302,{"$nulls":4},"A",{"$nulls":6},"T","B","B","P",-0.254,".","."]
["02160816100201_XZ",55671117,19,"G","-",109,"0;0","0;0","24;31","0;0","0;0","29;25",0,0,0,0,1755,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)","DNAAF3","-","NM_001256714.1",null,null,"Intron",null,49.54,{"$nulls":8},"-"]
["02160816100201_XZ",55671134,19,"G","-",89,"0;0","0;0","15;20","0;0","0;0","29;25",0,0,0,0,1343,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)","DNAAF3","-","NM_001256714.1",null,null,"Intron","rs776965948",60.67,{"$nulls":8},"-"]
["02160816100201_XZ",55671150,19,"C","-",81,"0;0","15;12","0;0","0;0","0;0","29;25",0,0,0,0,2257,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)","DNAAF3","-","NM_001256714.1",null,null,"Intron",null,66.67,{"$nulls":8},"-"]
["02160816100201_XZ",55671165,19,"C","-",81,"0;0","18;9","0;0","0;0","0;0","29;25",0,0,0,0,2180,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)","DNAAF3","-","NM_001256714.1",null,null,"Intron",null,66.67,{"$nulls":8},"-"]
["02160816100201_XZ",55671180,19,"C","-",83,"1;0","20;8","0;0","0;0","0;0","29;25",0,0,0,0,2157,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)","DNAAF3","-","NM_001256714.1",null,null,"Intron",null,65.06,{"$nulls":8},"-"]
["02160816100201_XZ",55671981,19,"G","-",181,"0;0","0;0","67;46","0;1","0;0","43;24",0,0,0,0,2806,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)","DNAAF3","-","NM_001256714.1",null,null,"Intron",null,37.02,{"$nulls":8},"-"]
["02160816100201_XZ",55671991,19,"T","-",185,"0;0","0;0","0;0","65;53","0;0","43;24",0,0,0,0,2819,"Unknown","AR","CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)","DNAAF3","-","NM_001256714.1",null,null,"Intron","rs150324242,rs6146559,rs752167172",36.22,{"$nulls":8},"-"]
["02160816100201_XZ",2451504,20,"C","CT",289,"0;0","63;96","0;0","49;81","0;0","0;0",0,0,0,0,733,"Unknown",null,"N/A","N/A","c.-163-5C>T",{"$nulls":3},"Intron","rs6049290",44.98,{"$nulls":6},"T",0.1737,"T",0.1737]
["02160816100201_XZ",6064839,20,"T","CC",161,"0;0","71;90","0;0","0;0","0;0","0;0",0,1,0,1,6796,"Unknown",null,"KINDLER SYNDROME (OMIM:173650)","FERMT1","c.1594-28A>G","NM_017671.4",null,null,"Intron","rs2232077",100,{"$nulls":8},"G"]
["02160816100201_XZ",8769180,20,"C","TT",120,"0;0","0;0","0;0","65;55","0;0","0;0",0,0,0,0,7813,"Unknown","AR","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:613722)","PLCB1","c.3188+8C>T","NM_015192.3",null,null,"Intron","rs2327089",100,{"$nulls":4},0.897,0.999,"C",0.103,"T",0.897]
["02160816100201_XZ",10633237,20,"G","AG",178,"37;51","0;1","41;48","0;0","0;0","0;0",0,1,0,0,3935,"Synonymous",null,"TETRALOGY OF FALLOT (OMIM:187500), ALAGILLE SYNDROME 1 (OMIM:118450)","JAG1","c.765C>T","NM_000214.2","CDS6","p.Y255Y","Exon","rs1131695",49.44,{"$nulls":8},"T",null,"CM993747","NM_000214.2:c.765C-A","missense/nonsense","DM","Alagillesyndrome"]
["02160816100201_XZ",18511456,20,"A","GG",33,"1;0","0;0","16;16","0;0","0;0","0;0",0,0,0,0,7280,"Unknown","AR","ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TY... (OMIM:224100)","SEC23B","c.1233+9A>G","NM_006363.4",null,null,"Intron","rs6081189",96.97,{"$nulls":4},0.9163,1,"A",0.08367,"G",0.9163]
["02160816100201_XZ",19982547,20,"G","AA",91,"41;49","0;0","0;0","0;0","0;0","0;1",0,0,0,0,1755,"Unknown",null,"MACS SYNDROME (OMIM:613075)","RIN2","c.*967G>A","NM_018993.3",null,null,"Intron","rs14344",98.9,{"$nulls":6},"A",0.4916,"A",0.4916]
["02160816100201_XZ",19983134,20,"A","AG",8,"1;5","0;0","2;0","0;0","0;0","0;0",1,1,0,0,1,"Unknown",null,"N/A","N/A","c.*1523+31A>G",{"$nulls":3},"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",30954295,20,"A","GG",222,"0;1","0;0","105;115","0;1","0;0","0;0",0,0,0,1,7457,"Unknown","1.AD/2.NA","BOHRING-OPITZ SYNDROME (OMIM:605039), MYELODYSPLASTIC SYNDROME (OMIM:614286)","ASXL1","c.140+26A>G","NM_015338.5",null,null,"Intron","rs2295454",99.1,{"$nulls":4},0.4087,0.744,"G",0.4087,"G",0.4087]
["02160816100201_XZ",33572941,20,"A","GG",138,"0;0","0;0","57;81","0;0","0;0","0;0",0,0,0,0,4367,"Unknown","NA","N/A","MYH7B","c.931+9A>G","NM_020884.3",null,null,"Intron","rs2425007",100,{"$nulls":4},0.7346,0.7867,"A",0.2654,"G",0.7346]
["02160816100201_XZ",39808288,20,"G","GT",45,"0;0","0;0","4;28","12;0","0;0","1;0",0,1,0,0,18,"Unknown",null,"N/A","ZHX3","c.*5543C>A","NM_015035.3",null,null,"Intron","rs77701811",26.67,{"$nulls":8},"A"]
["02160816100201_XZ",40706454,20,"T","insTTTT",83,"0;0","0;0","1;0","26;56","14;37","0;0",0,0,0,0,629,"Unknown","N/A","N/A","PTPRT","c.*3065_*3066insAAAA","NM_133170.3",null,null,"Intron","rs3084621,rs372187322,rs5841444",61.45,{"$nulls":8},"insAAAA"]
["02160816100201_XZ",43378770,20,"A","GG",110,"0;0","0;0","78;31","1;0","0;0","0;0",0,0,0,0,2715,"Nonsynonymous",null,"N/A","KCNK15","c.284A>G","NM_022358.3","CDS2","p.E95G","Exon","rs1111032",99.09,0.5998,0.6416,0.5282,0.6838,0.6068,0.6657,"A",0.3932,"G",0.6068,{"$nulls":5},"T",".",".","P",-0.215,".","."]
["02160816100201_XZ",43704943,20,"T","CT",247,"0;0","69;42","0;0","79;57","0;0","0;0",0,0,0,0,499,"Unknown","1.NA","T-CELL IMMUNODEFICIENCY, RECURRENT INFEC... (OMIM:614868)","STK4","c.*1126T>C","NM_006282.2",null,null,"Intron","rs6031972",44.94,{"$nulls":6},"C",0.4722,"C",0.4722]
["02160816100201_XZ",44520240,20,"G","-",150,"0;0","2;2","61;24","0;0","0;0","42;19",0,0,0,1,6605,"In-frame",null,"NEURAMINIDASE DEFICIENCY WITH BETA-GALAC... (OMIM:256540)","CTSA","-","NM_000308.2","CDS2",null,"Exon","rs749496723",40.67,{"$nulls":8},"-"]
["02160816100201_XZ",44678348,20,"G","AA",389,"189;198","0;0","1;0","1;0","0;0","0;0",0,0,0,0,7612,"Synonymous","N/A","N/A","SLC12A5","c.2100G>A","NM_020708.4","CDS17","p.A700A","Exon","rs6032635",99.49,{"$nulls":4},0.986,1,"G",0.01398,"A",0.986]
["02160816100201_XZ",48121660,20,"A","insA",7,"6;0","0;0","0;0","0;0","5;0","1;0",1,1,0,0,461,"Unknown","多因素","HYPERTENSION, ESSENTIAL (OMIM:145500)","PTGIS","c.*2797_*2798insT","NM_000961.3",null,null,"Intron","rs10637368",71.43,{"$nulls":8},"insT"]
["02160816100201_XZ",49506667,20,"T","AT",12,"0;3","0;0","0;0","7;2","0;0","0;0",0,1,0,0,0,"Unknown",null,"HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)","ADNP","c.*1059+216A>T","NM_015339.2",null,null,"Intron",null,25,{"$nulls":8},"T"]
["02160816100201_XZ",52770055,20,"G","insAT",8,"0;0","0;0","4;4","0;0","4;4","0;0",1,0,0,1,1655,"Unknown","AR","HYPERCALCEMIA, INFANTILE (OMIM:143880)","CYP24A1","c.*1256_*1257insAT","NM_000782.4",null,null,"Intron","rs10623012",100,{"$nulls":8},"insAT"]
["02160816100201_XZ",57463472,20,"C","CG",347,"0;1","103;86","84;73","0;0","0;0","0;0",0,0,0,0,1853,"Unknown","略","PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462), MCCUNE-ALBRIGHT SYNDROME (OMIM:174800), OSSEOUS HETEROPLASIA, PROGRESSIVE (OMIM:166350), PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233), PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463), PITUITARY ADENOMA, GROWTH HORMONE-SECRET... (OMIM:102200), ACTH-INDEPENDENT MACRONODULAR ADRENAL HY... (OMIM:219080), PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)","GNAS","c.-356-2954C>G","NM_000516.4",null,null,"Intron","rs6026578",45.24,{"$nulls":6},"C",0.3582,"G",0.6418]
["02160816100201_XZ",62037492,20,"C","CG",110,"0;0","34;11","42;23","0;0","0;0","0;0",0,0,0,0,15,"Unknown",null,"SEIZURES, BENIGN FAMILIAL NEONATAL, 1 (OMIM:121200), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... (OMIM:613720)","KCNQ2","c.*455+50G>C","NM_172107.2",null,null,"Intron","rs13039706",59.09,{"$nulls":8},"C"]
["02160816100201_XZ",15481365,21,"G","TT",113,"0;0","0;2","0;0","49;62","0;0","0;0",0,1,0,0,5278,"Nonsynonymous",null,"N/A","LIPI","c.1395C>A","NM_198996.2","CDS10","p.D465E","Exon","rs7278737",98.23,0.4968,0.4633,0.5008,0.5125,{"$nulls":4},"A",null,"CM035699","NM_198996.3:c.1395C-A","missense/nonsense","FP","PlasmaHDL cholesterol","T","B","B","P",-0.976,".","."]
["02160816100201_XZ",35470042,21,"G","TT",82,"0;0","0;0","0;0","40;41","0;1","1;0",0,0,0,0,741,"Unknown","N/A","N/A","SLC5A3","c.*388G>T","NM_006933.4",null,null,"Intron","rs4817619",98.78,{"$nulls":6},"G",0,"T",1]
["02160816100201_XZ",35883489,21,"C","TT",301,"0;0","1;0","0;0","150;150","0;0","0;0",0,1,0,0,981,"Unknown",null,"LONG QT SYNDROME 5 (OMIM:613695), JERVELL AND LANGE-NIELSEN SYNDROME 2 (OMIM:612347)","KCNE1","c.-252G>A","NM_000219.4",null,null,"Intron","rs2834502",99.67,{"$nulls":8},"A"]
["02160816100201_XZ",36080398,21,"T","CT",309,"1;0","73;88","0;0","66;81","0;0","0;0",0,0,0,0,2560,"Unknown",null,"N/A","CLIC6","c.1610+31T>C","NM_053277.1",null,null,"Intron","rs2070368",52.1,{"$nulls":4},0.4347,0.62,"C",0.4347,"C",0.4347]
["02160816100201_XZ",36089168,21,"A","-",81,"30;25","0;0","1;0","3;1","0;0","8;13",0,0,0,1,377,"Unknown",null,"N/A","CLIC6","-","NM_053277.1",null,null,"Intron",null,25.93,{"$nulls":8},"-"]
["02160816100201_XZ",42548829,21,"G","CC",209,"0;0","130;77","1;0","0;1","0;0","0;0",0,0,0,1,85,"Unknown",null,"N/A","BACE2","c.312+8327G>C","NM_012105.4",null,null,"Intron","rs7844",99.04,{"$nulls":6},"G",0.3429,"C",0.6571]
["02160816100201_XZ",43627012,21,"A","-",14,"6;5","0;0","0;0","0;0","0;0","0;3",0,1,0,0,1,"Unknown",null,"N/A","ABCG1","-","NM_207174.1",null,null,"Intron",null,21.43,{"$nulls":8},"-"]
["02160816100201_XZ",44450376,21,"T","-",80,"1;0","0;0","0;0","6;6","0;0","38;29",0,0,0,1,564,"Unknown",null,"N/A","PKNOX1","-","NM_004571.3",null,null,"Intron",null,83.75,{"$nulls":8},"-"]
["02160816100201_XZ",45821794,21,"C","TT",254,"0;1","0;0","0;0","90;163","0;0","0;0",0,0,0,0,6856,"Unknown",null,"N/A","TRPM2","c.2538+14C>T","NM_003307.3",null,null,"Intron","rs1785437",99.61,{"$nulls":4},0.7079,0.7639,"C",0.2921,"T",0.7079]
["02160816100201_XZ",46876173,21,"C","CT",193,"0;0","55;49","3;0","46;40","0;0","0;0",0,0,0,0,2483,"Unknown","AD","KNOBLOCH SYNDROME, TYPE I (OMIM:267750)","COL18A1","c.107-11983C>T","NM_130445.2",null,null,"Intron","rs2236452",44.56,{"$nulls":4},0.2083,0.1558,"T",0.2083,"T",0.2083]
["02160816100201_XZ",46930993,21,"C","AC",79,"12;5","35;15","0;0","0;0","0;1","9;3",0,0,1,0,5374,"Unknown","AD","KNOBLOCH SYNDROME, TYPE I (OMIM:267750)","COL18A1","c.3694-32C>A","NM_130445.2",null,null,"Intron","rs55690336",21.52,{"$nulls":6},"A",0.4812,"A",0.4812]
["02160816100201_XZ",47412751,21,"A","AC",96,"19;28","16;33","0;0","0;0","0;0","0;0",0,0,0,1,7320,"Unknown",null,"ULLRICH CONGENITAL MUSCULAR DYSTROPHY (OMIM:254090), BETHLEM MYOPATHY (OMIM:158810)","COL6A1","c.1335+27A>C","NM_001848.2",null,null,"Intron","rs2850173",51.04,{"$nulls":4},0.8714,0.8581,"A",0.1286,"C",0.8714]
["02160816100201_XZ",47539790,21,"A","AG",102,"23;27","0;0","19;33","0;0","0;0","0;0",0,0,0,0,7353,"Unknown",null,"ULLRICH CONGENITAL MUSCULAR DYSTROPHY (OMIM:254090), MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600), BETHLEM MYOPATHY (OMIM:158810)","COL6A2","c.1332+26A>G","NM_001849.3",null,null,"Intron","rs3737362",50.98,{"$nulls":4},0.8097,0.879,"A",0.1903,"G",0.8097]
["02160816100201_XZ",47766650,21,"G","AG",119,"35;18","0;1","35;29","1;0","0;0","0;0",0,0,0,0,4865,"Unknown","AR","MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL... (OMIM:210720)","PCNT","c.721-7G>A","NM_006031.5",null,null,"Intron","rs2839217",44.54,{"$nulls":6},"A",0.2999,"A",0.2999]
["02160816100201_XZ",47851753,21,"A","AG",227,"69;54","0;0","61;43","0;0","0;0","0;0",0,0,0,0,6650,"Nonsynonymous","AR","MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL... (OMIM:210720)","PCNT","c.8375A>G","NM_006031.5","CDS38","p.Q2792R","Exon","rs2073376",45.81,0.6767,0.6538,0.6387,0.6478,0.6699,0.619,"A",0.3301,"G",0.6699,{"$nulls":5},"T","B","B","P",-0.119,".","."]
["02160816100201_XZ",47863757,21,"A","AC",215,"68;35","68;44","0;0","0;0","0;0","0;0",0,0,0,0,5053,"Nonsynonymous","AR","MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL... (OMIM:210720)","PCNT","c.9735A>C","NM_006031.5","CDS45","p.R3245S","Exon","rs2073380",52.09,0.2349,0.4493,0.2278,0.4492,0.2063,0.4117,"C",0.2063,"C",0.2063,{"$nulls":5},"T","B","B","P",0.533,".","."]
["02160816100201_XZ",17680519,22,"A","AC",352,"85;98","85;83","1;0","0;0","0;0","0;0",0,1,0,0,1377,"Unknown","1.2.AR","SNEDDON SYNDROME (OMIM:182410), POLYARTERITIS NODOSA, CHILDHOOD-ONSET (OMIM:615688)","CECR1","c.753+3934T>G","NM_017424.2",null,null,"Intron","rs17807317",47.73,{"$nulls":8},"G"]
["02160816100201_XZ",19109609,22,"A","AC",41,"16;10","9;6","0;0","0;0","0;0","0;0",0,1,0,0,4089,"Unknown","N/A","N/A","DGCR2","c.79+32T>G","NM_005137.2",null,null,"Intron","rs62223868",36.59,{"$nulls":8},"G"]
["02160816100201_XZ",19863004,22,"G","AG",78,"24;18","0;0","25;11","0;0","0;0","0;0",0,0,0,0,587,"Unknown",null,"N/A","N/A","c.*356+36G>A",{"$nulls":3},"Intron","rs11912778",53.85,{"$nulls":6},"A",0.2252,"A",0.2252]
["02160816100201_XZ",20780025,22,"C","insC",39,"0;1","32;6","0;0","0;0","29;6","0;0",0,0,0,0,7355,"FS","AR","VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)","SCARF2","c.2253_2254insG","NM_153334.4","CDS11","p.P752delinsAPfs","Exon","rs5844420,rs5844421",89.74,{"$nulls":8},"insG"]
["02160816100201_XZ",21307713,22,"A","delAAC",142,"18;13","0;0","0;0","0;0","1;0","36;75",0,0,0,0,819,"Unknown","N/A","N/A","CRKL","c.*3605_*3607delACA","NM_005207.3",null,null,"Intron","rs137932565,rs143569858,rs548687400,rs55778752",78.17,{"$nulls":8},"delACA"]
["02160816100201_XZ",21336549,22,"A","AT",86,"24;11","0;0","0;0","35;16","0;0","0;0",0,0,0,1,604,"Unknown",null,"N/A","N/A","c.-103-9A>T",{"$nulls":3},"Intron","rs13056784",59.3,{"$nulls":6},"T",0.3472,"T",0.3472]
["02160816100201_XZ",24811394,22,"T","GT",131,"0;0","0;0","25;32","40;34","1;0","0;0",0,0,0,0,1,"Unknown","1.单发病例/2.AD","FACIAL CLEFTING, OBLIQUE, 1 (OMIM:600251), OPITZ GBBB SYNDROME, TYPE II (OMIM:145410)","SPECC1L","c.*803T>G","NM_015330.4",null,null,"Intron",null,43.51,{"$nulls":8},"G"]
["02160816100201_XZ",25757786,22,"T","CT",207,"0;0","47;48","0;0","62;50","0;0","0;0",0,1,0,0,446,"Unknown",null,"N/A","LRP5L","c.-131-1596A>G","NM_001135772.1",null,null,"Intron","rs133203",45.89,{"$nulls":8},"G"]
["02160816100201_XZ",27064494,22,"C","CT",333,"0;1","90;77","0;0","84;81","0;0","0;0",0,0,0,0,3653,"Unknown","N/A","N/A","MIAT","c.*185+37858C>T","NR_003491.2",null,null,"Intron","rs3752603",49.55,{"$nulls":6},"T",0.3886,"T",0.3886]
["02160816100201_XZ",27065117,22,"A","GG",389,"0;0","0;0","192;197","0;0","0;0","0;0",0,0,0,0,6311,"Unknown","N/A","N/A","MIAT","c.*185+38481A>G","NR_003491.2",null,null,"Intron","rs6005121",100,{"$nulls":6},"A",0.139,"G",0.861]
["02160816100201_XZ",27070451,22,"C","GG",500,"0;0","0;1","243;253","0;0","0;0","3;0",0,0,0,0,6340,"Unknown","N/A","N/A","MIAT","c.*185+43815C>G","NR_003491.2",null,null,"Intron","rs713720",99.2,{"$nulls":6},"C",0.04932,"G",0.9507]
["02160816100201_XZ",36708052,22,"C","-",254,"0;0","0;1","0;0","0;0","0;0","177;76",0,0,0,1,6520,"Unknown","1.AD/2.AD/3.AD/4.AD/5.AD/6.AD","MAY-HEGGLIN ANOMALY (OMIM:155100), MACROTHROMBOCYTOPENIA AND PROGRESSIVE SE... (OMIM:600208), FECHTNER SYNDROME (OMIM:153640), EPSTEIN SYNDROME (OMIM:153650), DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMI... (OMIM:603622), SEBASTIAN SYNDROME (OMIM:605249)","MYH9","-","NM_002473.4",null,null,"Intron",null,99.61,{"$nulls":8},"-"]
["02160816100201_XZ",36957004,22,"A","insA",37,"18;14","0;2","0;0","0;0","5;4","2;1",0,0,1,0,769,"Unknown","1.AD","MENTAL RETARDATION, AUTOSOMAL DOMINANT 1... (OMIM:614256)","CACNG2","c.*3394_*3395insT","NM_006078.3",null,null,"Intron","rs35956043,rs397954778",24.32,{"$nulls":8},"insT"]
["02160816100201_XZ",36960291,22,"T","AT",8,"0;2","0;0","0;0","3;3","0;0","0;0",1,1,0,0,1,"Unknown","1.AD","MENTAL RETARDATION, AUTOSOMAL DOMINANT 1... (OMIM:614256)","CACNG2","c.*107A>T","NM_006078.3",null,null,"Intron",null,25,{"$nulls":8},"T"]
["02160816100201_XZ",38822698,22,"C","CT",426,"0;0","96;125","1;0","92;112","0;0","0;0",0,0,0,1,454,"Unknown",null,"N/A","LOC101927183","c.*102C>T","XR_244434.1",null,null,"Intron","rs1063134",47.89,{"$nulls":6},"T",0.1482,"T",0.1482]
["02160816100201_XZ",40060714,22,"A","AC",6,"3;1","0;2","0;0","0;0","0;0","0;0",1,1,0,0,18,"Unknown",null,"N/A","CACNA1I","c.3667-30A>C","NM_021096.3",null,null,"Intron",null,33.33,{"$nulls":8},"C"]
["02160816100201_XZ",41324355,22,"T","CT",4,"0;0","0;2","0;0","0;2","0;0","0;0",1,1,0,1,5,"Unknown","AR","NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)","XPNPEP3","c.*1916T>C","NM_022098.3",null,null,"Intron",null,50,{"$nulls":8},"C"]
["02160816100201_XZ",41521854,22,"T","-",71,"0;0","0;0","0;0","22;15","0;0","21;13",0,0,0,1,2230,"Unknown","1.AD/2.AD/散发","RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684), COLORECTAL CANCER (OMIM:114500)","EP300","-","NM_001429.3",null,null,"Intron",null,47.89,{"$nulls":8},"-"]
["02160816100201_XZ",41562707,22,"T","GT",17,"0;0","0;0","4;0","6;7","0;0","0;0",0,1,0,0,1,"Unknown","1.AD/2.AD/散发","RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684), COLORECTAL CANCER (OMIM:114500)","EP300","c.3874+37T>G","NM_001429.3",null,null,"Intron",null,23.53,{"$nulls":8},"G"]
["02160816100201_XZ",42454354,22,"G","AA",84,"38;44","0;0","1;1","0;0","0;0","0;0",0,1,0,0,1861,"Unknown","1.AR/2.AR/3.AR","KANZAKI DISEASE (OMIM:609242), SCHINDLER DISEASE, TYPE I (OMIM:609241)","NAGA","c.*1929C>T","NM_000262.2",null,null,"Intron","rs5758566",97.62,{"$nulls":8},"T"]
["02160816100201_XZ",46317920,22,"T","CT",18,"0;0","7;4","0;0","5;2","0;0","0;0",0,1,0,1,184,"Unknown",null,"N/A","WNT7B","c.*816A>G","NM_058238.2",null,null,"Intron","rs61670056",61.11,{"$nulls":8},"G"]
["02160816100201_XZ",50963965,22,"C","CG",125,"3;0","18;33","24;47","0;0","0;0","0;0",0,0,0,1,3852,"Unknown","1.AR/2.AD","MYOPIA 6 (OMIM:608908), CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE... (OMIM:604377)","SCO2","c.-78G>C","NM_005138.2",null,null,"Intron","rs131806",56.8,{"$nulls":8},"C"]
["02160816100201_XZ",51021267,22,"T","-",141,"0;0","0;0","0;0","1;2","0;0","78;60",0,0,0,0,447,"Unknown","N/A","N/A","CHKB-CPT1B","-","NR_027928.2",null,null,"Intron",null,97.87,{"$nulls":8},"-"]
["02160816100201_XZ",51021282,22,"C","-",138,"0;0","0;0","0;0","0;0","0;0","78;60",0,0,0,0,449,"Unknown","N/A","N/A","CHKB-CPT1B","-","NR_027928.2",null,null,"Intron",null,100,{"$nulls":8},"-"]
["02160816100201_XZ",605797,"X","T","CT",757,"3;0","187;187","1;0","185;191","0;0","3;0",0,0,0,0,118,"Unknown",null,"LANGER MESOMELIC DYSPLASIA (OMIM:249700), SHORT STATURE, IDIOPATHIC, X-LINKED (OMIM:300582), LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)","SHOX","c.*426T>C","NM_000451.3",null,null,"Intron","rs149127363",49.41,{"$nulls":6},"C",0.01178,"C",0.01178]
["02160816100201_XZ",10645528,"X","C","CG",135,"0;0","44;18","46;27","0;0","0;0","0;0",0,0,0,0,225,"Unknown",null,"OPITZ GBBB SYNDROME, X-LINKED (OMIM:300000)","MID1","c.-401-56854G>C","NM_000381.3",null,null,"Intron","rs138452793",54.07,{"$nulls":8},"C"]
["02160816100201_XZ",20168054,"X","T","AT",9,"1;1","0;0","0;0","4;3","0;0","0;0",1,0,0,0,0,"Unknown",null,"MENTAL RETARDATION, X-LINKED 19 (OMIM:300844), COFFIN-LOWRY SYNDROME (OMIM:303600)","RPS6KA3","c.*5462A>T","NM_004586.2",null,null,"Intron",null,22.22,{"$nulls":8},"T"]
["02160816100201_XZ",21901903,"X","G","AG",307,"55;76","0;0","81;93","0;2","2;0","0;0",0,0,0,1,1307,"Unknown",null,"PALMOPLANTAR KERATODERMA, MUTILATING, WI... (OMIM:300918), KERATOSIS FOLLICULARIS SPINULOSA DECALVA... (OMIM:308800), IFAP SYNDROME WITH OR WITHOUT BRESHECK S... (OMIM:308205)","MBTPS2","c.*1130G>A","NM_015884.3",null,null,"Intron","rs5951476",42.67,{"$nulls":6},"A",0.4281,"A",0.4281]
["02160816100201_XZ",32519980,"X","T","delT",96,"1;0","0;0","0;1","18;23","0;0","20;33",0,0,0,1,7,"Unknown","1.XR/2.XL/3.XR","MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376), MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200), CARDIOMYOPATHY, DILATED, 3B (OMIM:302045)","DMD","c.2293-21delA","NM_004006.2",null,null,"Intron",null,55.21,{"$nulls":8},"delA"]
["02160816100201_XZ",39932907,"X","T","CC",351,"1;0","155;192","0;2","0;1","0;0","0;0",0,1,0,0,6458,"Synonymous","1.XD","MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)","BCOR","c.1692A>G","NM_017745.5","CDS3","p.A564A","Exon","rs6520618",98.86,{"$nulls":8},"G"]
["02160816100201_XZ",39933339,"X","A","GG",410,"2;0","0;0","170;238","0;0","0;0","0;0",0,1,0,0,8248,"Synonymous","1.XD","MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)","BCOR","c.1260T>C","NM_017745.5","CDS3","p.D420D","Exon","rs5917933",99.51,{"$nulls":8},"C"]
["02160816100201_XZ",39956589,"X","T","GT",25,"0;0","0;0","0;8","17;0","0;0","0;0",0,1,0,0,800,"Unknown","1.XD","MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)","BCOR","c.-162A>C","NM_017745.5",null,null,"Intron","rs887251538",32,{"$nulls":8},"C"]
["02160816100201_XZ",39956591,"X","A","AG",29,"17;0","0;0","0;12","0;0","0;0","0;0",0,1,0,0,1155,"Unknown","1.XD","MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)","BCOR","c.-164T>C","NM_017745.5",null,null,"Intron",null,41.38,{"$nulls":8},"C"]
["02160816100201_XZ",39956596,"X","T","GT",31,"0;0","0;0","0;13","16;2","0;0","0;0",0,1,0,0,1241,"Unknown","1.XD","MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)","BCOR","c.-169A>C","NM_017745.5",null,null,"Intron","rs1008372012",41.94,{"$nulls":8},"C"]
["02160816100201_XZ",40036216,"X","A","AC",37,"12;14","10;1","0;0","0;0","0;0","0;0",0,1,0,0,1440,"Unknown","1.XD","MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)","BCOR","c.-292-79497T>G","NM_017745.5",null,null,"Intron",null,29.73,{"$nulls":8},"G"]
["02160816100201_XZ",41598703,"X","A","AG",27,"7;8","0;0","6;6","0;0","0;0","0;0",0,1,0,0,530,"Synonymous","1.NA/2.XLD/3.NA","MENTAL RETARDATION AND MICROCEPHALY WITH... (OMIM:300749), FG SYNDROME 4 (OMIM:300422)","CASK","c.363T>C","NM_003688.3","CDS5","p.Y121Y","Exon","rs41431245",44.44,{"$nulls":8},"C"]
["02160816100201_XZ",44935925,"X","T","delT",45,"0;0","3;0","0;0","12;3","0;0","13;14",0,0,0,0,4315,"Unknown",null,"KABUKI SYNDROME 2 (OMIM:300867)","KDM6A","c.2703-5delT","NM_021140.2",null,null,"Intron","rs10605935,rs571223110,rs747031910,rs747294180,rs796280314",60,{"$nulls":8},"delT"]
["02160816100201_XZ",44938563,"X","G","AG",86,"19;28","0;0","19;20","0;0","0;0","0;0",0,0,0,0,3582,"Synonymous",null,"KABUKI SYNDROME 2 (OMIM:300867)","KDM6A","c.3111G>A","NM_021140.2","CDS20","p.Q1037Q","Exon","rs20539",54.65,0.2254,0.1852,0.2349,0.3342,0.2255,0.31,"A",0.2217,"A",0.2217,{"$nulls":5},".",".",".","P",-0.198,".","."]
["02160816100201_XZ",46459128,"X","G","GT",88,"0;0","0;0","18;33","16;21","1;0","0;0",0,1,0,0,574,"Unknown",null,"N/A","SLC9A7","c.*7259C>A","NM_001257291.1",null,null,"Intron","rs6640",42.05,{"$nulls":8},"A"]
["02160816100201_XZ",46460899,"X","G","AG",395,"94;97","0;0","99;105","0;0","0;0","0;0",0,1,0,0,96,"Unknown",null,"N/A","SLC9A7","c.*5488C>T","NM_001257291.1",null,null,"Intron","rs3209594",48.35,{"$nulls":8},"T"]
["02160816100201_XZ",46461487,"X","A","delA",82,"26;20","0;0","0;0","0;0","1;2","16;20",0,0,0,1,134,"Unknown",null,"N/A","SLC9A7","c.*4900delT","NM_001257291.1",null,null,"Intron","rs60425856,rs75565673,rs796776306",43.9,{"$nulls":8},"delT"]
["02160816100201_XZ",46461536,"X","T","CT",186,"0;0","49;44","0;2","50;41","0;0","0;0",0,1,0,1,574,"Unknown",null,"N/A","SLC9A7","c.*4851A>G","NM_001257291.1",null,null,"Intron","rs5905551",50,{"$nulls":8},"G"]
["02160816100201_XZ",46462246,"X","T","CC",202,"0;0","91;108","2;0","0;1","0;0","0;0",0,1,0,1,673,"Unknown",null,"N/A","SLC9A7","c.*4141A>G","NM_001257291.1",null,null,"Intron","rs5906241",98.51,{"$nulls":8},"G"]
["02160816100201_XZ",46463117,"X","T","CT",4,"0;0","0;2","0;0","2;0","0;0","0;0",1,1,0,1,8,"Unknown",null,"N/A","SLC9A7","c.*3270A>G","NM_001257291.1",null,null,"Intron",null,50,{"$nulls":8},"G"]
["02160816100201_XZ",46463118,"X","A","insA",4,"2;2","0;0","0;0","0;0","0;2","0;0",1,1,0,1,1,"Unknown",null,"N/A","SLC9A7","c.*3269_*3270insT","NM_001257291.1",null,null,"Intron",null,50,{"$nulls":8},"insT"]
["02160816100201_XZ",46463130,"X","T","CT",6,"0;0","0;2","0;0","4;0","0;0","0;0",1,1,0,1,3,"Unknown",null,"N/A","SLC9A7","c.*3257A>G","NM_001257291.1",null,null,"Intron",null,33.33,{"$nulls":8},"G"]
["02160816100201_XZ",46463131,"X","G","AG",6,"0;2","0;0","4;0","0;0","0;0","0;0",1,1,0,0,2,"Unknown",null,"N/A","SLC9A7","c.*3256C>T","NM_001257291.1",null,null,"Intron",null,33.33,{"$nulls":8},"T"]
["02160816100201_XZ",46463134,"X","T","CT",6,"0;0","0;2","0;0","4;0","0;0","0;0",1,1,0,0,5,"Unknown",null,"N/A","SLC9A7","c.*3253A>G","NM_001257291.1",null,null,"Intron",null,33.33,{"$nulls":8},"G"]
["02160816100201_XZ",46463144,"X","T","GT",6,"0;0","0;0","0;2","4;0","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","SLC9A7","c.*3243A>C","NM_001257291.1",null,null,"Intron",null,33.33,{"$nulls":8},"C"]
["02160816100201_XZ",46463151,"X","G","AG",7,"0;2","0;0","5;0","0;0","0;0","0;0",1,1,0,1,1,"Unknown",null,"N/A","SLC9A7","c.*3236C>T","NM_001257291.1",null,null,"Intron",null,28.57,{"$nulls":8},"T"]
["02160816100201_XZ",46463154,"X","A","AG",7,"5;0","0;0","0;2","0;0","0;0","0;0",1,1,0,1,2,"Unknown",null,"N/A","SLC9A7","c.*3233T>C","NM_001257291.1",null,null,"Intron",null,28.57,{"$nulls":8},"C"]
["02160816100201_XZ",46463223,"X","G","AG",21,"10;2","0;0","7;2","0;0","0;0","0;0",0,1,0,0,133,"Unknown",null,"N/A","SLC9A7","c.*3164C>T","NM_001257291.1",null,null,"Intron","rs5906242",57.14,{"$nulls":8},"T"]
["02160816100201_XZ",46463870,"X","T","delT",7,"0;0","0;0","0;0","0;5","0;0","1;1",1,0,0,0,81,"Unknown",null,"N/A","SLC9A7","c.*2517delA","NM_001257291.1",null,null,"Intron",null,28.57,{"$nulls":8},"delA"]
["02160816100201_XZ",46464622,"X","T","AT",24,"0;5","0;0","0;0","18;1","0;0","0;0",0,1,0,0,3,"Unknown",null,"N/A","SLC9A7","c.*1765A>T","NM_001257291.1",null,null,"Intron",null,20.83,{"$nulls":8},"T"]
["02160816100201_XZ",46464623,"X","C","AC",26,"0;6","19;1","0;0","0;0","0;0","0;0",0,1,0,0,2,"Unknown",null,"N/A","SLC9A7","c.*1764G>T","NM_001257291.1",null,null,"Intron",null,23.08,{"$nulls":8},"T"]
["02160816100201_XZ",46464624,"X","T","AT",29,"0;8","0;0","0;0","20;1","0;0","0;0",0,1,0,0,8,"Unknown",null,"N/A","SLC9A7","c.*1763A>T","NM_001257291.1",null,null,"Intron",null,27.59,{"$nulls":8},"T"]
["02160816100201_XZ",46464625,"X","C","AC",36,"1;15","20;0","0;0","0;0","0;0","0;0",0,1,0,0,40,"Unknown",null,"N/A","SLC9A7","c.*1762G>T","NM_001257291.1",null,null,"Intron","rs994364889",44.44,{"$nulls":8},"T"]
["02160816100201_XZ",46472826,"X","G","AG",145,"30;54","0;0","22;39","0;0","0;0","0;0",0,1,0,0,2512,"Synonymous",null,"N/A","SLC9A7","c.1827C>T","NM_001257291.1","CDS16","p.Y609Y","Exon","rs3208940",57.93,{"$nulls":8},"T"]
["02160816100201_XZ",46510871,"X","G","insG",45,"2;0","0;0","9;34","0;0","4;13","0;0",0,1,0,0,433,"Unknown",null,"N/A","SLC9A7","c.1148-32_1148-31insC","NM_001257291.1",null,null,"Intron","rs201148388",37.78,{"$nulls":8},"insC"]
["02160816100201_XZ",46618321,"X","C","CG",75,"0;0","13;23","13;26","0;0","0;0","0;0",0,0,0,0,2733,"Synonymous",null,"N/A","SLC9A7","c.144G>C","NM_001257291.1","CDS1","p.A48A","Exon","rs1056846",52,{"$nulls":8},"C"]
["02160816100201_XZ",47039751,"X","A","AC",62,"9;39","11;3","0;0","0;0","0;0","0;0",0,1,0,1,5960,"Unknown",null,"TARP SYNDROME (OMIM:311900)","RBM10","c.1160+43A>C","NM_005676.4",null,null,"Intron","rs782601976",22.58,{"$nulls":8},"C"]
["02160816100201_XZ",48367540,"X","C","CT",39,"0;0","12;12","0;0","7;8","0;0","0;0",0,0,0,1,1531,"Unknown","XD","FOCAL DERMAL HYPOPLASIA (OMIM:305600)","PORCN","c.-37-632C>T","NM_203475.1",null,null,"Intron","rs12559784",38.46,{"$nulls":6},"T",0.4159,"T",0.4159]
["02160816100201_XZ",48382100,"X","T","delT",54,"0;0","0;0","0;0","26;14","3;2","9;5",0,0,1,1,3827,"Unknown","XD","CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DO... (OMIM:302960)","EBP","c.-43delT","NM_006579.2",null,null,"Intron","rs782299900",25.93,{"$nulls":8},"delT"]
["02160816100201_XZ",48382174,"X","G","GT",282,"0;0","0;0","100;43","92;47","0;0","0;0",0,0,0,1,4484,"Synonymous","XD","CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DO... (OMIM:302960)","EBP","c.15G>T","NM_006579.2","CDS1","p.A5A","Exon","rs3048",49.29,{"$nulls":6},"T",0.3152,"T",0.3152]
["02160816100201_XZ",48649461,"X","G","CG",13,"0;0","0;4","5;4","0;0","0;0","0;0",0,1,0,1,11,"Unknown","略","THROMBOCYTOPENIA, X-LINKED, WITH OR WITH... (OMIM:300367), ANEMIA, X-LINKED, WITH OR WITHOUT NEUTRO... (OMIM:300835), THROMBOCYTOPENIA WITH BETA-THALASSEMIA, ... (OMIM:314050), DOWN SYNDROMETRISOMY 21, INCLUDED (OMIM:190685)","GATA1","c.-19-37G>C","NM_002049.3",null,null,"Intron",null,30.77,{"$nulls":8},"C"]
["02160816100201_XZ",48759204,"X","C","CT",380,"0;0","123;75","0;0","111;71","0;0","0;0",0,0,0,1,6222,"Unknown","XR","RENPENNING SYNDROME 1 (OMIM:309500)","PQBP1","c.180-3C>T","NM_005710.2",null,null,"Intron","rs741932",47.89,{"$nulls":4},0.6076,0.71,"C",0.3746,"T",0.6254]
["02160816100201_XZ",48826976,"X","G","CG",259,"0;0","77;53","69;59","0;1","0;0","0;0",0,0,0,1,468,"Unknown",null,"N/A","KCND1","c.-298C>G","NM_004979.4",null,null,"Intron","rs2238977",50.19,{"$nulls":8},"G"]
["02160816100201_XZ",49061742,"X","C","CT",310,"1;0","70;66","0;0","88;85","1;0","0;0",0,1,0,1,1736,"Nonsynonymous","1.X连锁/2.NA/3.X连锁","ALAND ISLAND EYE DISEASE (OMIM:300600), CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476), NIGHT BLINDNESS, CONGENITAL STATIONARY, ... (OMIM:300071)","CACNA1F","c.5789G>A","NM_005183.2","CDS48","p.R1930H","Exon","rs33910054",55.81,0.091,0.1169,0.1028,0.1962,{"$nulls":4},"A",{"$nulls":6},"T","B","B","P",0.529,".","."]
["02160816100201_XZ",53220836,"X","G","TT",87,"0;0","0;0","1;0","41;45","0;0","0;0",0,1,0,0,1445,"Unknown",null,"MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300534)","KDM5C","c.*1313C>A","NM_004187.3",null,null,"Intron","rs1886889",98.85,{"$nulls":8},"A"]
["02160816100201_XZ",53221260,"X","G","insG",212,"0;0","0;0","89;123","0;0","81;121","0;0",0,0,0,0,1633,"Unknown",null,"MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300534)","KDM5C","c.*889_*890insC","NM_004187.3",null,null,"Intron","rs66463350,rs75167298",95.28,{"$nulls":8},"insC"]
["02160816100201_XZ",53222044,"X","C","insC",31,"0;0","12;17","0;0","0;0","5;17","2;0",0,0,0,1,6426,"Unknown",null,"MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300534)","KDM5C","c.*105_*106insG","NM_004187.3",null,null,"Intron","rs146836963,rs150558161",70.97,{"$nulls":8},"insG"]
["02160816100201_XZ",53228148,"X","C","AA",345,"160;185","0;0","0;0","0;0","0;0","0;0",0,1,0,1,6219,"Unknown",null,"MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300534)","KDM5C","c.2243+11G>T","NM_004187.3",null,null,"Intron","rs1977364",100,{"$nulls":8},"T"]
["02160816100201_XZ",53421655,"X","A","AC",17,"1;10","5;0","0;0","1;0","0;0","0;0",0,1,0,1,6399,"Unknown","X-linked","CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)","SMC1A","c.2973+43T>G","NM_006306.3",null,null,"Intron","rs781903145",29.41,{"$nulls":8},"G"]
["02160816100201_XZ",53436228,"X","C","delCT",5,"0;0","0;3","0;0","0;0","0;0","2;0",1,1,0,1,1,"Unknown","X-linked","CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)","SMC1A","c.1338-29_1338-28delAG","NM_006306.3",null,null,"Intron",null,40,{"$nulls":8},"delAG"]
["02160816100201_XZ",53436229,"X","T","-",2,"0;0","0;0","0;0","0;0","0;0","2;0",1,1,0,0,1,"Unknown","X-linked","CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)","SMC1A","-","NM_006306.3",null,null,"Intron",null,100,{"$nulls":8},"-"]
["02160816100201_XZ",53449568,"X","G","AA",270,"138;128","1;0","3;0","0;0","0;0","0;0",0,1,0,0,5407,"Unknown","X-linked","CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)","SMC1A","c.-19C>T","NM_006306.3",null,null,"Intron","rs1264011",98.52,{"$nulls":8},"T"]
["02160816100201_XZ",53461359,"X","G","CC",80,"0;0","22;55","0;0","0;3","0;0","0;0",0,0,0,0,5320,"Unknown",null,"N/A","N/A","c.-31-36G>C",{"$nulls":3},"Intron","rs1264014",96.25,{"$nulls":6},"C",0.4013,"C",0.4013]
["02160816100201_XZ",53563589,"X","A","GG",129,"0;0","0;0","40;88","0;1","0;0","0;0",0,1,0,0,7285,"Synonymous","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.12177T>C","NM_031407.5","CDS76","p.G4059G","Exon","rs426298",99.22,0.9934,1,0.9976,1,{"$nulls":4},"C",{"$nulls":6},".",".",".","P",-1.211,".","."]
["02160816100201_XZ",53566067,"X","A","delA",163,"30;63","0;0","0;0","0;0","0;0","29;41",0,0,0,0,173,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.11633-26delT","NM_031407.5",null,null,"Intron","rs781931547",42.94,{"$nulls":8},"delT"]
["02160816100201_XZ",53575898,"X","G","AG",226,"80;41","1;0","68;36","0;0","0;0","0;0",0,1,0,0,13,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.10035+22C>T","NM_031407.5",null,null,"Intron","rs782244693",53.54,{"$nulls":8},"T"]
["02160816100201_XZ",53641647,"X","T","CC",107,"0;0","30;73","0;0","0;1","0;0","3;0",0,1,0,0,4749,"Synonymous","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.2109A>G","NM_031407.5","CDS20","p.S703S","Exon","rs6638360",96.26,{"$nulls":8},"G"]
["02160816100201_XZ",53654509,"X","T","GT",5,"0;0","0;0","2;0","3;0","0;0","0;0",1,1,0,0,88,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.1384-43A>C","NM_031407.5",null,null,"Intron",null,40,{"$nulls":8},"C"]
["02160816100201_XZ",53654512,"X","A","AC",5,"2;0","2;1","0;0","0;0","0;0","0;0",1,1,0,0,16,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.1384-46T>G","NM_031407.5",null,null,"Intron",null,60,{"$nulls":8},"G"]
["02160816100201_XZ",53655416,"X","A","delA",37,"19;2","0;0","0;0","0;0","1;0","11;5",0,0,0,0,4624,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.1242+28delT","NM_031407.5",null,null,"Intron","rs781865515,rs781937431,rs782093258",43.24,{"$nulls":8},"delT"]
["02160816100201_XZ",53713560,"X","G","GT",19,"0;0","0;0","7;8","0;4","0;0","0;0",0,1,0,0,0,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.-289C>A","NM_031407.5",null,null,"Intron",null,21.05,{"$nulls":8},"A"]
["02160816100201_XZ",53713564,"X","G","delG",19,"0;0","0;0","7;8","0;0","0;0","0;4",0,1,0,0,0,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.-292delC","NM_031407.5",null,null,"Intron",null,21.05,{"$nulls":8},"delC"]
["02160816100201_XZ",53713568,"X","G","CG",23,"0;0","2;5","8;8","0;0","0;0","0;0",0,0,0,0,0,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.-297C>G","NM_031407.5",null,null,"Intron",null,30.43,{"$nulls":8},"G"]
["02160816100201_XZ",53713572,"X","G","delGGGG",29,"0;0","0;1","11;10","0;0","0;0","2;5",0,0,0,0,0,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.-304_-301delCCCC","NM_031407.5",null,null,"Intron",null,24.14,{"$nulls":8},"delCCCC"]
["02160816100201_XZ",53713573,"X","G","-",29,"0;0","1;1","10;10","0;0","0;0","2;5",0,0,1,0,2,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","-","NM_031407.5",null,null,"Intron",null,24.14,{"$nulls":8},"-"]
["02160816100201_XZ",53713574,"X","G","-",30,"0;0","0;1","11;10","0;1","0;0","2;5",0,0,0,0,2,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","-","NM_031407.5",null,null,"Intron",null,23.33,{"$nulls":8},"-"]
["02160816100201_XZ",53713575,"X","G","-",31,"0;0","0;1","11;12","0;0","0;0","2;5",0,0,0,0,0,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","-","NM_031407.5",null,null,"Intron",null,22.58,{"$nulls":8},"-"]
["02160816100201_XZ",53713578,"X","C","delCG",30,"0;0","10;11","0;0","1;1","0;0","2;5",0,0,1,0,1,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.-308_-307delCG","NM_031407.5",null,null,"Intron",null,23.33,{"$nulls":8},"delCG"]
["02160816100201_XZ",53713579,"X","G","-",29,"0;0","0;0","10;8","2;2","1;1","2;5",0,0,1,0,1,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","-","NM_031407.5",null,null,"Intron",null,24.14,{"$nulls":8},"-"]
["02160816100201_XZ",53713581,"X","G","AG",34,"6;8","0;0","11;9","0;0","0;0","0;0",0,1,0,0,102,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.-310C>T","NM_031407.5",null,null,"Intron","rs868910257,rs993622992",41.18,{"$nulls":8},"T"]
["02160816100201_XZ",53713591,"X","C","insCAGCCCTGCTTCAGCCCTGCTCCAGCCCTGCTC",40,"0;0","22;18","0;0","0;0","7;9","0;0",0,1,0,0,2,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.-320_-319insGAGCAGGGCTGGAGCAGGGCTGAAGCAGGGCTG","NM_031407.5",null,null,"Intron",null,40,{"$nulls":8},"insGAGCAGGGCTGGAGCAGGGCTGAAGCAGGGCTG"]
["02160816100201_XZ",53713640,"X","G","CC",49,"0;0","22;26","0;1","0;0","0;0","0;0",0,1,0,0,2195,"Unknown","XL","MENTAL RETARDATION, X-LINKED, SYNDROMIC,... (OMIM:300706)","HUWE1","c.-369C>G","NM_031407.5",null,null,"Intron","rs2333864",97.96,{"$nulls":8},"G"]
["02160816100201_XZ",54222839,"X","A","AT",21,"3;7","0;0","0;0","3;6","0;0","1;1",0,0,1,0,5,"Unknown",null,"N/A","WNK3","c.*1918T>A","NM_020922.4",null,null,"Intron",null,42.86,{"$nulls":8},"A"]
["02160816100201_XZ",54224386,"X","A","insA",27,"10;12","2;0","0;0","0;0","6;2","1;2",0,0,1,0,23,"Unknown",null,"N/A","WNK3","c.*371_*372insT","NM_020922.4",null,null,"Intron",null,29.63,{"$nulls":8},"insT"]
["02160816100201_XZ",62854789,"X","A","delAC",30,"12;10","0;0","0;0","0;0","0;0","6;2",0,0,0,1,283,"Unknown",null,"N/A","N/A","c.*3060+24_*3060+25delAC",{"$nulls":3},"Intron","rs72446926",26.67,{"$nulls":8},"delAC"]
["02160816100201_XZ",62854790,"X","C","-",30,"0;0","12;10","0;0","0;0","0;0","6;2",0,0,0,1,300,"Unknown",null,"N/A","N/A","-",{"$nulls":3},"Intron",null,26.67,{"$nulls":8},"-"]
["02160816100201_XZ",63409396,"X","A","AG",10,"1;2","0;0","0;7","0;0","0;0","0;0",0,1,0,0,76,"Unknown","XLD","OSTEOPATHIA STRIATA WITH CRANIAL SCLEROS... (OMIM:300373)","AMER1","c.*363T>C","NM_152424.3",null,null,"Intron","rs5964738",70,{"$nulls":8},"C"]
["02160816100201_XZ",66764290,"X","A","AT",6,"0;3","0;1","0;0","0;2","0;0","0;0",1,1,0,1,5,"Unknown","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","c.-699A>T","NM_000044.3",null,null,"Intron",null,33.33,{"$nulls":8},"T"]
["02160816100201_XZ",66766357,"X","G","delGGCGGCGGCGGCGGCGGC",55,"0;0","0;0","10;13","0;0","0;0","20;12",0,0,0,1,62,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","c.1403_1420delGCGGCGGCGGCGGCGGCG","NM_000044.3","CDS1","p.G468_G473del","Exon","rs746853821,rs748538566,rs749465311,rs768867084,rs772476406,rs780052930,rs878882572",58.18,{"$nulls":8},"delGCGGCGGCGGCGGCGGCG"]
["02160816100201_XZ",66766358,"X","G","-",54,"0;0","0;0","10;12","0;0","0;0","20;12",0,0,0,1,1418,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,59.26,{"$nulls":8},"-"]
["02160816100201_XZ",66766359,"X","C","-",51,"0;0","8;11","0;0","0;0","0;0","20;12",0,0,0,1,1392,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,62.75,{"$nulls":8},"-"]
["02160816100201_XZ",66766360,"X","G","-",49,"2;0","0;0","6;9","0;0","0;0","20;12",0,0,0,1,1058,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,65.31,{"$nulls":8},"-"]
["02160816100201_XZ",66766361,"X","G","-",46,"0;0","0;0","8;6","0;0","0;0","20;12",0,0,0,1,1062,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,69.57,{"$nulls":8},"-"]
["02160816100201_XZ",66766362,"X","C","-",46,"0;0","8;6","0;0","0;0","0;0","20;12",0,0,0,1,1031,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,69.57,{"$nulls":8},"-"]
["02160816100201_XZ",66766363,"X","G","-",46,"0;0","0;0","8;6","0;0","0;0","20;12",0,0,0,1,1010,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,69.57,{"$nulls":8},"-"]
["02160816100201_XZ",66766364,"X","G","-",45,"0;0","0;0","8;5","0;0","0;0","20;12",0,0,0,1,1011,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,71.11,{"$nulls":8},"-"]
["02160816100201_XZ",66766365,"X","C","-",45,"0;0","8;5","0;0","0;0","0;0","20;12",0,0,0,1,980,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,71.11,{"$nulls":8},"-"]
["02160816100201_XZ",66766366,"X","G","-",47,"0;0","0;0","10;5","0;0","0;0","20;12",0,0,0,1,810,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,68.09,{"$nulls":8},"-"]
["02160816100201_XZ",66766367,"X","G","-",47,"0;0","0;0","10;5","0;0","0;0","20;12",0,0,0,0,808,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,68.09,{"$nulls":8},"-"]
["02160816100201_XZ",66766368,"X","C","-",47,"0;0","10;5","0;0","0;0","0;0","20;12",0,0,0,0,787,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,68.09,{"$nulls":8},"-"]
["02160816100201_XZ",66766369,"X","G","-",49,"0;0","0;0","12;5","0;0","0;0","20;12",0,0,0,0,230,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon","rs748538566,rs749465311,rs768867084,rs772476406,rs780052930,rs878882572",65.31,{"$nulls":8},"-"]
["02160816100201_XZ",66766370,"X","G","-",46,"0;0","0;0","12;2","0;0","0;0","20;12",0,0,0,0,231,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,69.57,{"$nulls":8},"-"]
["02160816100201_XZ",66766371,"X","C","-",48,"0;0","14;2","0;0","0;0","0;0","20;12",0,0,0,0,227,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,66.67,{"$nulls":8},"-"]
["02160816100201_XZ",66766372,"X","G","-",47,"0;0","0;0","13;2","0;0","0;0","20;12",0,0,0,0,206,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon","rs748538566,rs749465311,rs772476406,rs780052930",68.09,{"$nulls":8},"-"]
["02160816100201_XZ",66766373,"X","G","-",47,"0;0","0;0","13;2","0;0","0;0","20;12",0,0,0,0,207,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,68.09,{"$nulls":8},"-"]
["02160816100201_XZ",66766374,"X","C","-",47,"0;0","13;2","0;0","0;0","0;0","20;12",0,0,0,0,203,"In-frame","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3","CDS1",null,"Exon",null,68.09,{"$nulls":8},"-"]
["02160816100201_XZ",66944120,"X","A","delA",25,"3;6","0;0","0;0","0;0","0;0","7;9",0,0,0,0,1504,"Unknown","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","c.*447delA","NM_000044.3",null,null,"Intron","rs11351755,rs77029761",64,{"$nulls":8},"delA"]
["02160816100201_XZ",66945740,"X","T","CC",267,"0;0","136;129","0;0","0;2","0;0","0;0",0,0,0,0,1694,"Unknown","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","c.*2057T>C","NM_000044.3",null,null,"Intron","rs5919413",99.25,{"$nulls":6},"T",0.1407,"C",0.8593]
["02160816100201_XZ",66946851,"X","T","CC",232,"0;0","89;141","0;0","1;0","0;0","1;0",0,0,0,0,1863,"Unknown","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","c.*3168T>C","NM_000044.3",null,null,"Intron","rs1931537",99.14,{"$nulls":6},"T",0.1407,"C",0.8593]
["02160816100201_XZ",66948020,"X","T","insT",77,"0;0","0;0","0;0","38;39","31;29","0;0",0,0,0,0,1609,"Unknown","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","c.*4345_*4346insT","NM_000044.3",null,null,"Intron","rs397737842,rs5902611",77.92,{"$nulls":8},"insT"]
["02160816100201_XZ",66949722,"X","C","TT",237,"0;0","0;0","1;0","90;146","0;0","0;0",0,0,0,0,1734,"Unknown","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","c.*6039C>T","NM_000044.3",null,null,"Intron","rs7440",99.58,{"$nulls":6},"C",0.1415,"T",0.8585]
["02160816100201_XZ",66950023,"X","A","delAAG",37,"3;10","0;3","0;0","0;0","0;0","9;12",0,0,0,0,1481,"Unknown","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","c.*6344_*6346delAGA","NM_000044.3",null,null,"Intron","rs140258587,rs4022208,rs878889610,rs878967261",56.76,{"$nulls":8},"delAGA"]
["02160816100201_XZ",66950024,"X","A","-",36,"3;11","0;0","0;0","0;1","0;0","9;12",0,0,0,0,1485,"Unknown","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3",null,null,"Intron",null,58.33,{"$nulls":8},"-"]
["02160816100201_XZ",66950025,"X","G","-",37,"0;0","0;1","2;11","2;0","0;0","9;12",0,0,0,0,1480,"Unknown","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","-","NM_000044.3",null,null,"Intron",null,56.76,{"$nulls":8},"-"]
["02160816100201_XZ",66950105,"X","C","TT",62,"0;0","0;0","0;0","38;24","0;0","0;0",0,0,0,0,1658,"Unknown","1.2.3.4.XLR","HYPOSPADIAS 1, X-LINKED (OMIM:300633), ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068), PROSTATE CANCER (OMIM:176807), SPINAL AND BULBAR MUSCULAR ATROPHY, X-LI... (OMIM:313200), ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)","AR","c.*6422C>T","NM_000044.3",null,null,"Intron","rs2362520",100,{"$nulls":6},"C",0.1417,"T",0.8583]
["02160816100201_XZ",70338399,"X","A","GG",401,"1;1","0;1","231;164","0;3","0;0","0;0",0,0,0,0,1968,"Unknown",null,"N/A","N/A","c.-199-7A>G",{"$nulls":3},"Intron","rs11796153",98.5,{"$nulls":6},"A",0.4546,"G",0.5454]
["02160816100201_XZ",70345593,"X","C","CT",199,"0;0","14;71","0;0","18;96","0;0","0;0",0,0,0,0,1252,"Unknown",null,"OPITZ-KAVEGGIA SYNDROME (OMIM:305450), LUJAN-FRYNS SYNDROME (OMIM:309520), OHDO SYNDROME, X-LINKED (OMIM:300895)","MED12","c.2422+30C>T","NM_005120.2",null,null,"Intron","rs2075790",57.29,{"$nulls":4},0.1336,0.13,"T",0.1634,"T",0.1634]
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["02160816100201_XZ",76762402,"X","G","GT",27,"0;0","0;0","2;16","8;0","0;0","1;0",0,1,0,0,940,"Unknown","1.NA/2.XLD/3.XLR/","MENTAL RETARDATION-HYPOTONIC FACIES SYND... (OMIM:309580), ALPHA-THALASSEMIA/MENTAL RETARDATION SYN... (OMIM:301040), ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROM... (OMIM:300448)","ATRX","c.*1427C>A","NM_000489.3",null,null,"Intron",null,29.63,{"$nulls":8},"A"]
["02160816100201_XZ",76762408,"X","C","CT",26,"0;0","4;16","0;0","6;0","0;0","0;0",0,1,0,0,28,"Unknown","1.NA/2.XLD/3.XLR/","MENTAL RETARDATION-HYPOTONIC FACIES SYND... (OMIM:309580), ALPHA-THALASSEMIA/MENTAL RETARDATION SYN... (OMIM:301040), ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROM... (OMIM:300448)","ATRX","c.*1421G>A","NM_000489.3",null,null,"Intron",null,23.08,{"$nulls":8},"A"]
["02160816100201_XZ",76762663,"X","A","AG",14,"6;5","0;0","0;3","0;0","0;0","0;0",0,1,0,0,1,"Unknown","1.NA/2.XLD/3.XLR/","MENTAL RETARDATION-HYPOTONIC FACIES SYND... (OMIM:309580), ALPHA-THALASSEMIA/MENTAL RETARDATION SYN... (OMIM:301040), ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROM... (OMIM:300448)","ATRX","c.*1166T>C","NM_000489.3",null,null,"Intron",null,21.43,{"$nulls":8},"C"]
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["02160816100201_XZ",100611285,"X","T","CC",132,"1;0","46;85","0;0","0;0","0;0","0;0",0,1,0,0,4509,"Unknown","1.XR/2.XR","AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755), ISOLATED GROWTH HORMONE DEFICIENCY, TYPE... (OMIM:307200)","BTK","c.1350-29A>G","NM_000061.2",null,null,"Intron","rs3747288",99.24,{"$nulls":8},"G"]
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["02160816100201_XZ",107814994,"X","T","delT",21,"0;0","0;0","0;0","10;6","0;0","0;5",0,1,0,0,1,"Unknown",null,"ALPORT SYNDROME, X-LINKED (OMIM:301050)","COL4A5","c.439-45delT","NM_000495.4",null,null,"Intron",null,23.81,{"$nulls":8},"delT"]
["02160816100201_XZ",107814996,"X","T","GT",21,"0;0","0;1","0;5","10;5","0;0","0;0",0,1,0,0,2,"Unknown",null,"ALPORT SYNDROME, X-LINKED (OMIM:301050)","COL4A5","c.439-45T>G","NM_000495.4",null,null,"Intron",null,23.81,{"$nulls":8},"G"]
["02160816100201_XZ",107815000,"X","T","insT",21,"0;0","0;0","0;0","9;12","0;5","0;0",0,1,0,0,1,"Unknown",null,"ALPORT SYNDROME, X-LINKED (OMIM:301050)","COL4A5","c.439-41_439-40insT","NM_000495.4",null,null,"Intron",null,23.81,{"$nulls":8},"insT"]
["02160816100201_XZ",107815002,"X","T","insCGA",22,"0;0","0;0","0;0","10;12","0;5","0;0",0,1,0,0,1,"Unknown",null,"ALPORT SYNDROME, X-LINKED (OMIM:301050)","COL4A5","c.439-40_439-39insCGA","NM_000495.4",null,null,"Intron",null,22.73,{"$nulls":8},"insCGA"]
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["02160816100201_XZ",107844759,"X","T","delT",34,"0;0","0;1","1;0","12;13","1;2","1;6",0,1,1,1,4459,"Unknown",null,"ALPORT SYNDROME, X-LINKED (OMIM:301050)","COL4A5","c.2041+61delT","NM_000495.4",null,null,"Intron","rs61506795,rs752933468,rs759677115,rs761714012,rs796949647",20.59,{"$nulls":8},"delT"]
["02160816100201_XZ",107865895,"X","A","AG",69,"13;11","0;0","31;14","0;0","0;0","0;0",0,0,0,1,2808,"Unknown",null,"ALPORT SYNDROME, X-LINKED (OMIM:301050)","COL4A5","c.2768-11A>G","NM_000495.4",null,null,"Intron","rs1006269",65.22,{"$nulls":4},0.1765,0.38,"G",0.1823,"G",0.1823]
["02160816100201_XZ",108867177,"X","G","AA",417,"216;195","0;0","1;3","0;1","0;0","0;1",0,1,0,1,1980,"Unknown",null,"N/A","KCNE1L","c.*644C>T","NM_012282.2",null,null,"Intron","rs697829",98.56,{"$nulls":8},"T"]
["02160816100201_XZ",108867302,"X","A","AT",438,"106;121","0;0","6;0","89;116","0;0","0;0",0,0,0,1,73,"Unknown",null,"N/A","KCNE1L","c.*519T>A","NM_012282.2",null,null,"Intron","rs839377",46.8,{"$nulls":8},"A"]
["02160816100201_XZ",111326026,"X","T","AT",95,"6;34","0;0","1;0","8;46","0;0","0;0",0,0,0,1,401,"Unknown",null,"N/A","N/A","c.-919-22T>A",{"$nulls":3},"Intron","rs527600789",42.11,{"$nulls":8},"A"]
["02160816100201_XZ",119005705,"X","C","GG",299,"0;0","1;0","169;128","0;1","0;0","0;0",0,1,0,0,6252,"Unknown","N/A","TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)","RNF113A","c.-129G>C","NM_006978.2",null,null,"Intron","rs708463",99.33,{"$nulls":8},"C"]
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["02160816100201_XZ",119560599,"X","T","CT",48,"0;1","11;12","1;0","12;11","0;0","0;0",0,1,0,0,1576,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.*4579A>G","NM_002294.2",null,null,"Intron","rs42885",47.92,{"$nulls":8},"G"]
["02160816100201_XZ",119562125,"X","A","AG",14,"4;7","0;0","0;3","0;0","0;0","0;0",0,1,0,0,2,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.*3053T>C","NM_002294.2",null,null,"Intron",null,21.43,{"$nulls":8},"C"]
["02160816100201_XZ",119562128,"X","T","delTA",14,"0;0","0;0","0;0","4;7","0;0","0;3",0,1,0,0,0,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.*3049_*3050delTA","NM_002294.2",null,null,"Intron",null,21.43,{"$nulls":8},"delTA"]
["02160816100201_XZ",119562129,"X","A","-",14,"4;7","0;0","0;0","0;0","0;0","0;3",0,1,0,0,0,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","-","NM_002294.2",null,null,"Intron",null,21.43,{"$nulls":8},"-"]
["02160816100201_XZ",119562130,"X","T","CT",14,"0;0","0;3","0;0","4;7","0;0","0;0",0,1,0,1,0,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.*3048A>G","NM_002294.2",null,null,"Intron",null,21.43,{"$nulls":8},"G"]
["02160816100201_XZ",119562131,"X","A","AT",16,"4;7","0;0","0;0","0;5","0;0","0;0",0,1,0,1,1,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.*3047T>A","NM_002294.2",null,null,"Intron",null,31.25,{"$nulls":8},"A"]
["02160816100201_XZ",119571073,"X","G","AA",31,"12;13","0;0","0;6","0;0","0;0","0;0",0,1,0,1,876,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.1093+4512C>T","NM_002294.2",null,null,"Intron","rs14410",80.65,{"$nulls":8},"T"]
["02160816100201_XZ",119571267,"X","C","AC",34,"0;7","20;7","0;0","0;0","0;0","0;0",0,1,0,1,3,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.1093+4318G>T","NM_002294.2",null,null,"Intron","rs776493190",20.59,{"$nulls":8},"T"]
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["02160816100201_XZ",119571269,"X","A","-",34,"15;12","0;0","0;0","0;0","0;0","4;3",0,0,0,0,892,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","-","NM_002294.2",null,null,"Intron","rs201938539,rs869039212,rs869234352",20.59,{"$nulls":8},"-"]
["02160816100201_XZ",119571541,"X","T","CC",122,"0;1","50;70","0;0","0;0","0;0","0;1",0,1,0,0,1748,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.1093+4044A>G","NM_002294.2",null,null,"Intron","rs42889",98.36,{"$nulls":8},"G"]
["02160816100201_XZ",119572548,"X","C","delCA",78,"0;1","38;17","0;0","0;0","0;0","12;10",0,0,0,0,730,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.1093+3036_1093+3037delTG","NM_002294.2",null,null,"Intron","rs555004130,rs67522937,rs747404411,rs767342235,rs796917660,rs878961186",28.21,{"$nulls":8},"delTG"]
["02160816100201_XZ",119572549,"X","A","-",78,"38;19","0;0","0;0","0;0","0;0","12;9",0,0,0,0,812,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","-","NM_002294.2",null,null,"Intron",null,26.92,{"$nulls":8},"-"]
["02160816100201_XZ",119572584,"X","C","AC",89,"0;18","41;28","1;0","0;0","0;0","1;0",0,1,0,0,371,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.1093+3001G>T","NM_002294.2",null,null,"Intron","rs112371042",20.22,{"$nulls":8},"T"]
["02160816100201_XZ",119572586,"X","C","AC",88,"18;34","23;12","0;0","0;0","0;0","1;0",0,1,0,0,697,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.1093+2999G>T","NM_002294.2",null,null,"Intron","rs45622238",59.09,{"$nulls":8},"T"]
["02160816100201_XZ",119572587,"X","A","insACAAAA",88,"42;46","0;0","0;0","0;0","17;10","0;0",0,0,0,0,292,"Unknown",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.1093+2998_1093+2999insTTTTGT","NM_002294.2",null,null,"Intron","rs576233822",30.68,{"$nulls":8},"insTTTTGT"]
["02160816100201_XZ",119590533,"X","T","AT",16,"3;3","0;0","0;0","5;5","0;0","0;0",0,0,0,0,3812,"Synonymous",null,"DANON DISEASE (OMIM:300257)","LAMP2","c.156A>T","NM_002294.2","CDS2","p.V52V","Exon","rs12097",37.5,{"$nulls":8},"T"]
["02160816100201_XZ",128779208,"X","G","AG",58,"11;10","0;0","23;14","0;0","0;0","0;0",0,0,0,0,4,"Unknown",null,"N/A","N/A","c.*2664+28G>A",{"$nulls":3},"Intron","rs191091012",36.21,{"$nulls":6},"A",1.325E-3,"A",1.325E-3]
["02160816100201_XZ",128780177,"X","A","insAGC",276,"111;163","0;0","1;0","0;0","49;68","0;1",0,0,0,1,450,"Unknown",null,"N/A","APLN","c.*1723_*1724insGCT","NM_017413.4",null,null,"Intron","rs112711394,rs70961724,rs772308732,rs777301953",42.39,{"$nulls":8},"insGCT"]
["02160816100201_XZ",128781516,"X","C","CT",452,"0;0","118;110","0;1","109;114","0;0","0;0",0,1,0,1,894,"Unknown",null,"N/A","APLN","c.*384G>A","NM_017413.4",null,null,"Intron","rs3115759",49.34,{"$nulls":8},"A"]
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["02160816100201_XZ",133119676,"X","C","CG",14,"0;0","8;3","0;3","0;0","0;0","0;0",0,1,0,1,31,"Unknown",null,"N/A","N/A","c.-197-3C>G",{"$nulls":3},"Intron",null,21.43,{"$nulls":8},"G"]
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["02160816100201_XZ",135292022,"X","C","CT",93,"1;0","34;12","0;0","29;14","0;0","1;2",0,0,0,1,4716,"Unknown","略","MYOPATHY, REDUCING BODY, X-LINKED, CHILD... (OMIM:300718), SCAPULOPERONEAL MYOPATHY, X-LINKED DOMIN... (OMIM:300695), MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE... (OMIM:300696), MYOPATHY, REDUCING BODY, X-LINKED, EARLY... (OMIM:300717)","FHL1","c.689-8C>T","NM_001449.4",null,null,"Intron","rs2076705",46.24,{"$nulls":4},0.4982,0.63,"C",0.4803,"T",0.5197]
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["02160816100201_XZ",135742269,"X","A","-",177,"61;51","3;0","0;0","0;1","0;0","27;34",0,0,0,1,143,"Unknown",null,"IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1 (OMIM:308230)","CD40LG","-","NM_000074.2",null,null,"Intron","rs374784888,rs56074249,rs771725512",34.46,{"$nulls":8},"-"]
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["02160816100201_XZ",150907240,"X","T","CT",184,"1;0","43;28","0;0","50;62","0;0","0;0",0,0,0,1,395,"Unknown",null,"N/A","CNGA2","c.111-19T>C","NM_005140.1",null,null,"Intron","rs7066992",38.59,{"$nulls":4},0.2273,0.09,"C",0.2686,"C",0.2686]
["02160816100201_XZ",150913169,"X","G","CG",554,"0;1","113;134","137;168","0;0","0;0","0;1",0,0,0,1,336,"Unknown",null,"N/A","CNGA2","c.*199G>C","NM_005140.1",null,null,"Intron","rs5969818",44.58,{"$nulls":6},"C",0.1886,"C",0.1886]
["02160816100201_XZ",150913273,"X","C","CT",435,"1;1","104;111","1;0","111;106","0;0","0;0",0,0,0,1,238,"Unknown",null,"N/A","CNGA2","c.*303C>T","NM_005140.1",null,null,"Intron","rs879372",49.89,{"$nulls":6},"T",0.3958,"T",0.3958]
["02160816100201_XZ",150913323,"X","T","CT",393,"0;0","99;100","0;0","100;94","0;0","0;0",0,0,0,0,99,"Unknown",null,"N/A","CNGA2","c.*353T>C","NM_005140.1",null,null,"Intron","rs73640115",50.64,{"$nulls":6},"C",0.09748,"C",0.09748]
["02160816100201_XZ",150913599,"X","G","CG",380,"0;0","97;126","68;88","1;0","1;0","0;0",0,0,0,0,99,"Unknown",null,"N/A","CNGA2","c.*629G>C","NM_005140.1",null,null,"Intron","rs5925021",58.68,{"$nulls":6},"C",0.02649,"C",0.02649]
["02160816100201_XZ",152018832,"X","T","GG",300,"1;0","0;0","150;146","0;1","0;0","2;0",0,0,0,1,7786,"Synonymous","1.XLD/2.XLR","CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIF... (OMIM:308050), CK SYNDROME (OMIM:300831)","NSDHL","c.132T>G","NM_015922.2","CDS2","p.G44G","Exon","rs5969919",98.67,{"$nulls":4},0.8724,0.94,"T",0.1385,"G",0.8615]
["02160816100201_XZ",153168154,"X","G","AG",331,"89;80","0;1","79;82","0;0","1;0","0;0",0,0,0,1,241,"Unknown","1.XR/2.XR","NEPHROGENIC SYNDROME OF INAPPROPRIATE AN... (OMIM:300539), DIABETES INSIPIDUS, NEPHROGENIC, X-LINKE... (OMIM:304800)","AVPR2","c.-71-2375G>A","NM_000054.4",null,null,"Intron","rs12559136",51.06,{"$nulls":4},0.0405,0.05,"A",0.0355,"A",0.0355]
["02160816100201_XZ",153170448,"X","A","insC",301,"161;134","0;4","0;0","0;0","152;131","1;1",0,1,0,1,5647,"Unknown","1.XR/2.XR","NEPHROGENIC SYNDROME OF INAPPROPRIATE AN... (OMIM:300539), DIABETES INSIPIDUS, NEPHROGENIC, X-LINKE... (OMIM:304800)","AVPR2","c.-71-82_-71-81insC","NM_000054.4",null,null,"Intron","rs55712963",94.02,{"$nulls":8},"insC"]
["02160816100201_XZ",153170980,"X","T","GG",236,"0;0","0;0","137;98","0;1","0;0","0;0",0,0,0,1,7747,"Unknown","1.XR/2.XR","NEPHROGENIC SYNDROME OF INAPPROPRIATE AN... (OMIM:300539), DIABETES INSIPIDUS, NEPHROGENIC, X-LINKE... (OMIM:304800)","AVPR2","c.26-6T>G","NM_000054.4",null,null,"Intron","rs56689668",99.58,{"$nulls":4},0.9982,0.99,"T",0.0007947,"G",0.9992]
["02160816100201_XZ",153170995,"X","G","AG",230,"63;55","0;2","62;48","0;0","0;0","0;0",0,0,0,1,303,"Nonsynonymous","1.XR/2.XR","NEPHROGENIC SYNDROME OF INAPPROPRIATE AN... (OMIM:300539), DIABETES INSIPIDUS, NEPHROGENIC, X-LINKE... (OMIM:304800)","AVPR2","c.35G>A","NM_000054.4","CDS2","p.G12E","Exon","rs2071126",51.3,0.035,0.0144,0.0311,0.0427,0.0351,0.04,"A",0.03205,"A",0.03205,"CM940144","NM_000054.4:c.35G-A","missense/nonsense","DM?","Increasedbinding affinity","D,T","B","B","P",0.173,".","."]
["02160816100201_XZ",153171993,"X","A","GG",360,"1;0","1;1","166;191","0;0","0;0","0;0",0,0,0,1,6181,"Synonymous","1.XR/2.XR","NEPHROGENIC SYNDROME OF INAPPROPRIATE AN... (OMIM:300539), DIABETES INSIPIDUS, NEPHROGENIC, X-LINKE... (OMIM:304800)","AVPR2","c.927A>G","NM_000054.4","CDS3","p.L309L","Exon","rs5201",99.17,0.5986,0.573,0.4707,0.7196,0.5979,0.73,"A",0.3115,"G",0.6885,{"$nulls":5},"T",".",".","P",-1.48,".","."]
["02160816100201_XZ",153172059,"X","C","CT",334,"0;0","79;91","0;0","70;94","0;2","0;0",0,0,0,1,281,"Synonymous","1.XR/2.XR","NEPHROGENIC SYNDROME OF INAPPROPRIATE AN... (OMIM:300539), DIABETES INSIPIDUS, NEPHROGENIC, X-LINKE... (OMIM:304800)","AVPR2","c.993C>T","NM_000054.4","CDS3","p.S331S","Exon","rs5202",49.1,0.0747,0.0161,0.0479,0.0311,0.075,0.04,"T",0.07285,"T",0.07285,{"$nulls":5},"T",".",".","P",-0.457,".","."]
["02160816100201_XZ",153195393,"X","G","AG",462,"145;111","0;0","107;97","0;1","0;0","1;0",0,1,0,1,5969,"Unknown","1.X连锁/2.XR","OGDEN SYNDROME (OMIM:300855), MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)","NAA10","c.*47C>T","NM_003491.3",null,null,"Intron","rs2071128",55.41,{"$nulls":8},"T"]
["02160816100201_XZ",153196345,"X","G","AG",278,"43;83","2;0","68;82","0;0","0;0","0;0",0,1,0,1,5967,"Unknown","1.X连锁/2.XR","OGDEN SYNDROME (OMIM:300855), MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)","NAA10","c.387-45C>T","NM_003491.3",null,null,"Intron","rs2071131",45.32,{"$nulls":8},"T"]
["02160816100201_XZ",153200677,"X","A","GG",4,"0;0","0;0","2;2","0;0","0;0","0;0",1,0,0,1,2219,"Unknown",null,"N/A","N/A","c.*17+45A>G",{"$nulls":3},"Intron","rs72616465",100,{"$nulls":8},"G"]
["02160816100201_XZ",153206902,"X","G","AG",369,"126;63","0;1","121;57","0;1","0;0","0;0",0,1,0,1,201,"Unknown","N/A","RENIN-BINDING PROTEIN (OMIM:312420)","RENBP","c.945+29C>T","NM_002910.5",null,null,"Intron","rs73640842",51.22,{"$nulls":8},"T"]
["02160816100201_XZ",153207025,"X","T","CT",455,"1;0","77;142","0;0","94;141","0;0","0;0",0,1,0,0,204,"Nonsynonymous","N/A","RENIN-BINDING PROTEIN (OMIM:312420)","RENBP","c.851A>G","NM_002910.5","CDS8","p.D284G","Exon","rs2269371",48.13,0.0621,0.0107,0.0307,0.0237,{"$nulls":4},"G",{"$nulls":6},"D","B","B","P",0.356,".","."]
["02160816100201_XZ",153207153,"X","T","GT",26,"0;0","0;0","2;4","17;3","0;0","0;0",0,1,0,0,705,"Unknown","N/A","RENIN-BINDING PROTEIN (OMIM:312420)","RENBP","c.770-47A>C","NM_002910.5",null,null,"Intron","rs781942617",23.08,{"$nulls":8},"C"]
["02160816100201_XZ",153210180,"X","G","insG",88,"0;0","0;0","20;68","0;0","20;55","0;0",0,1,0,0,5094,"Unknown","N/A","RENIN-BINDING PROTEIN (OMIM:312420)","RENBP","c.-118_-117insC","NM_002910.5",null,null,"Intron","rs146096296",85.23,{"$nulls":8},"insC"]
["02160816100201_XZ",153210195,"X","G","insG",74,"0;0","0;0","26;48","0;0","22;40","0;0",0,1,0,0,4665,"Unknown","N/A","RENIN-BINDING PROTEIN (OMIM:312420)","RENBP","c.-133_-132insC","NM_002910.5",null,null,"Intron","rs551458266",83.78,{"$nulls":8},"insC"]
["02160816100201_XZ",153210199,"X","G","CC",69,"0;0","22;40","4;3","0;0","0;0","0;0",0,1,0,0,4568,"Unknown","N/A","RENIN-BINDING PROTEIN (OMIM:312420)","RENBP","c.-137C>G","NM_002910.5",null,null,"Intron","rs76273146",89.86,{"$nulls":8},"G"]
["02160816100201_XZ",153210200,"X","A","GG",64,"0;1","0;1","22;34","0;0","0;0","4;2",0,1,0,0,4395,"Unknown","N/A","RENIN-BINDING PROTEIN (OMIM:312420)","RENBP","c.-138T>C","NM_002910.5",null,null,"Intron","rs78742142",87.5,{"$nulls":8},"C"]
["02160816100201_XZ",153210235,"X","G","CG",53,"0;0","16;12","12;13","0;0","0;0","0;0",0,0,0,0,111,"Unknown",null,"N/A","N/A","c.-170-3G>C",{"$nulls":3},"Intron","rs181843440",52.83,{"$nulls":6},"C",0.002119,"C",0.002119]
["02160816100201_XZ",153292180,"X","T","CT",344,"0;0","97;96","2;0","71;77","0;0","1;0",0,1,0,0,590,"Unknown",null,"LUBS X-LINKED MENTAL RETARDATION SYNDROM... (OMIM:300260), ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO ... (OMIM:300673), RETT SYNDROME (OMIM:312750), MENTAL RETARDATION, X-LINKED, SYNDROMIC ... (OMIM:300055)","MECP2","c.*3638A>G","NM_004992.3",null,null,"Intron","rs2734647",56.1,{"$nulls":8},"G"]
["02160816100201_XZ",153294542,"X","T","CC",323,"0;4","138;177","0;0","0;4","0;0","0;0",0,1,0,0,2824,"Unknown",null,"LUBS X-LINKED MENTAL RETARDATION SYNDROM... (OMIM:300260), ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO ... (OMIM:300673), RETT SYNDROME (OMIM:312750), MENTAL RETARDATION, X-LINKED, SYNDROMIC ... (OMIM:300055)","MECP2","c.*1276A>G","NM_004992.3",null,null,"Intron","rs2853337",97.52,{"$nulls":8},"G"]
["02160816100201_XZ",153297636,"X","G","CG",183,"0;0","53;34","64;32","0;0","0;0","0;0",0,0,0,0,1155,"Unknown",null,"LUBS X-LINKED MENTAL RETARDATION SYNDROM... (OMIM:300260), ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO ... (OMIM:300673), RETT SYNDROME (OMIM:312750), MENTAL RETARDATION, X-LINKED, SYNDROMIC ... (OMIM:300055)","MECP2","c.377+22C>G","NM_004992.3",null,null,"Intron","rs2075597",47.54,{"$nulls":8},"G"]
["02160816100201_XZ",153577133,"X","T","insCA,GT",192,"0;3","6;3","42;40","40;58","40;33","0;0",0,1,1,0,8,"Unknown","略","INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, ... (OMIM:300048), FRONTOMETAPHYSEAL DYSPLASIA (OMIM:305620), HETEROTOPIA, PERIVENTRICULAR, X-LINKED D... (OMIM:300049), EHLERS-DANLOS SYNDROME WITH PERIVENTRICU... (OMIM:300537), OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300), TERMINAL OSSEOUS DYSPLASIA (OMIM:300244), CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400), OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120), MELNICK-NEEDLES SYNDROME (OMIM:309350), FG SYNDROME 2 (OMIM:300321)","FLNA","c.*84_*85insTG,c.*84A>AC","NM_001456.3",null,null,"Intron","rs201431046,rs782243311","38.02,42.71",{"$nulls":8},"C"]
["02160816100201_XZ",153579448,"X","A","AG",231,"48;94","0;0","32;57","0;0","0;0","0;0",0,1,0,0,2469,"Unknown","略","INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, ... (OMIM:300048), FRONTOMETAPHYSEAL DYSPLASIA (OMIM:305620), HETEROTOPIA, PERIVENTRICULAR, X-LINKED D... (OMIM:300049), EHLERS-DANLOS SYNDROME WITH PERIVENTRICU... (OMIM:300537), OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300), TERMINAL OSSEOUS DYSPLASIA (OMIM:300244), CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400), OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120), MELNICK-NEEDLES SYNDROME (OMIM:309350), FG SYNDROME 2 (OMIM:300321)","FLNA","c.7000-39T>C","NM_001456.3",null,null,"Intron","rs2070822",38.53,{"$nulls":8},"C"]
["02160816100201_XZ",153581932,"X","A","AG",351,"86;90","0;0","78;94","0;3","0;0","0;0",0,1,0,0,979,"Synonymous","略","INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, ... (OMIM:300048), FRONTOMETAPHYSEAL DYSPLASIA (OMIM:305620), HETEROTOPIA, PERIVENTRICULAR, X-LINKED D... (OMIM:300049), EHLERS-DANLOS SYNDROME WITH PERIVENTRICU... (OMIM:300537), OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300), TERMINAL OSSEOUS DYSPLASIA (OMIM:300244), CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400), OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120), MELNICK-NEEDLES SYNDROME (OMIM:309350), FG SYNDROME 2 (OMIM:300321)","FLNA","c.5826T>C","NM_001456.3","CDS34","p.A1942A","Exon","rs2070825",49,{"$nulls":8},"C"]
["02160816100201_XZ",153582703,"X","G","AG",345,"67;73","0;0","100;104","0;0","0;0","0;1",0,1,0,0,935,"Unknown","略","INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, ... (OMIM:300048), FRONTOMETAPHYSEAL DYSPLASIA (OMIM:305620), HETEROTOPIA, PERIVENTRICULAR, X-LINKED D... (OMIM:300049), EHLERS-DANLOS SYNDROME WITH PERIVENTRICU... (OMIM:300537), OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300), TERMINAL OSSEOUS DYSPLASIA (OMIM:300244), CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400), OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120), MELNICK-NEEDLES SYNDROME (OMIM:309350), FG SYNDROME 2 (OMIM:300321)","FLNA","c.5393-44C>T","NM_001456.3",null,null,"Intron","rs2070827",40.58,{"$nulls":8},"T"]
["02160816100201_XZ",153593613,"X","C","CT",488,"3;0","129;129","1;0","115;111","0;0","0;0",0,1,0,0,571,"Nonsynonymous","略","INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, ... (OMIM:300048), FRONTOMETAPHYSEAL DYSPLASIA (OMIM:305620), HETEROTOPIA, PERIVENTRICULAR, X-LINKED D... (OMIM:300049), EHLERS-DANLOS SYNDROME WITH PERIVENTRICU... (OMIM:300537), OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300), TERMINAL OSSEOUS DYSPLASIA (OMIM:300244), CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400), OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120), MELNICK-NEEDLES SYNDROME (OMIM:309350), FG SYNDROME 2 (OMIM:300321)","FLNA","c.1582G>A","NM_001456.3","CDS10","p.V528M","Exon","rs143873938",46.31,0.0133,0.027,0.0032,0.0427,{"$nulls":4},"A",null,"CM023918","NM_001456.3:c.1582G-A","missense/nonsense","DM?","Heterotopia,periventricular","D","D","D,P","D",0.534,".","."]
["02160816100201_XZ",153595246,"X","G","CG",255,"0;0","46;76","56;77","0;0","0;0","0;0",0,0,0,0,2409,"Unknown","略","INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, ... (OMIM:300048), FRONTOMETAPHYSEAL DYSPLASIA (OMIM:305620), HETEROTOPIA, PERIVENTRICULAR, X-LINKED D... (OMIM:300049), EHLERS-DANLOS SYNDROME WITH PERIVENTRICU... (OMIM:300537), OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300), TERMINAL OSSEOUS DYSPLASIA (OMIM:300244), CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400), OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120), MELNICK-NEEDLES SYNDROME (OMIM:309350), FG SYNDROME 2 (OMIM:300321)","FLNA","c.869-28C>G","NM_001456.3",null,null,"Intron","rs4898478",47.84,{"$nulls":8},"G"]
["02160816100201_XZ",153595259,"X","G","AG",240,"42;66","0;2","55;75","0;0","0;0","0;0",0,1,0,0,2410,"Unknown","略","INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, ... (OMIM:300048), FRONTOMETAPHYSEAL DYSPLASIA (OMIM:305620), HETEROTOPIA, PERIVENTRICULAR, X-LINKED D... (OMIM:300049), EHLERS-DANLOS SYNDROME WITH PERIVENTRICU... (OMIM:300537), OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300), TERMINAL OSSEOUS DYSPLASIA (OMIM:300244), CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400), OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120), MELNICK-NEEDLES SYNDROME (OMIM:309350), FG SYNDROME 2 (OMIM:300321)","FLNA","c.869-41C>T","NM_001456.3",null,null,"Intron","rs4898479",45,{"$nulls":8},"T"]
["02160816100201_XZ",153599777,"X","A","AG",18,"3;11","0;0","2;2","0;0","0;0","0;0",0,1,0,0,1259,"Unknown","略","INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, ... (OMIM:300048), FRONTOMETAPHYSEAL DYSPLASIA (OMIM:305620), HETEROTOPIA, PERIVENTRICULAR, X-LINKED D... (OMIM:300049), EHLERS-DANLOS SYNDROME WITH PERIVENTRICU... (OMIM:300537), OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300), TERMINAL OSSEOUS DYSPLASIA (OMIM:300244), CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400), OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120), MELNICK-NEEDLES SYNDROME (OMIM:309350), FG SYNDROME 2 (OMIM:300321)","FLNA","c.-116-48T>C","NM_001456.3",null,null,"Intron","rs141021453",22.22,{"$nulls":8},"C"]
["02160816100201_XZ",153609616,"X","G","CG",72,"0;0","15;19","17;20","0;0","0;0","0;1",0,0,0,0,2206,"Unknown","XR","EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LIN... (OMIM:310300)","EMD","c.*59G>C","NM_000117.2",null,null,"Intron","rs17426",47.22,{"$nulls":6},"C",0.2519,"C",0.2519]
["02160816100201_XZ",153609617,"X","C","CT",72,"0;0","17;20","0;0","15;19","0;0","0;1",0,0,0,0,2204,"Unknown","XR","EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LIN... (OMIM:310300)","EMD","c.*60C>T","NM_000117.2",null,null,"Intron","rs17427",47.22,{"$nulls":6},"T",0.2525,"T",0.2525]
["02160816100201_XZ",153609638,"X","T","GT",33,"0;0","0;0","0;9","22;2","0;0","0;0",0,1,0,1,3218,"Unknown","XR","EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LIN... (OMIM:310300)","EMD","c.*81T>G","NM_000117.2",null,null,"Intron",null,27.27,{"$nulls":8},"G"]
["02160816100201_XZ",153609645,"X","A","AG",29,"20;2","0;0","0;7","0;0","0;0","0;0",0,1,0,1,2680,"Unknown","XR","EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LIN... (OMIM:310300)","EMD","c.*88A>G","NM_000117.2",null,null,"Intron","rs782724085",24.14,{"$nulls":6},"G",0.0005298,"G",0.0005298]
["02160816100201_XZ",153994596,"X","G","TT",289,"0;0","0;0","1;2","135;151","0;0","0;0",0,0,0,1,8204,"Synonymous","XR","DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)","DKC1","c.369G>T","NM_001363.3","CDS5","p.T123T","Exon","rs2728532",98.96,0.9934,1,0.9978,1,0.9933,null,"G",7.417E-3,"T",0.9926,{"$nulls":5},".",".",".","P",-0.429,".","."]
["02160816100201_XZ",154004584,"X","C","CT",387,"0;0","84;93","0;0","97;113","0;0","0;0",0,0,0,0,543,"Synonymous","XR","DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)","DKC1","c.1461C>T","NM_001363.3","CDS14","p.A487A","Exon","rs1127051",54.26,{"$nulls":4},0.0647,0.06,"T",0.06172,"T",0.06172]
["02160816100201_XZ",154064200,"X","C","TT",56,"0;0","0;0","0;0","30;26","0;0","0;0",0,1,0,0,864,"regulatory","1.XR","HEMOPHILIA A (OMIM:306700)","F8","c.*1672G>A","NM_000132.3",null,null,"Intron","rs1050705",100,{"$nulls":8},"A",null,"CR168302","null","regulatory","DP","HaemophiliaA, modifier of"]
["02160816100201_XZ",154064580,"X","T","CC",171,"0;0","82;84","1;0","0;3","0;0","1;0",0,1,0,0,1008,"Unknown","1.XR","HEMOPHILIA A (OMIM:306700)","F8","c.*1292A>G","NM_000132.3",null,null,"Intron","rs1396947",97.08,{"$nulls":8},"G"]
["02160816100201_XZ",154133317,"X","A","delA",52,"15;23","0;0","1;0","0;0","1;3","6;7",0,0,1,0,230,"Unknown","1.XR","HEMOPHILIA A (OMIM:306700)","F8","c.5374-19delT","NM_000132.3",null,null,"Intron","rs782086610,rs782112221,rs782411920",25,{"$nulls":8},"delT"]
["02160816100201_XZ",154134645,"X","A","AC",8,"6;0","0;2","0;0","0;0","0;0","0;0",1,1,0,0,7,"Unknown","1.XR","HEMOPHILIA A (OMIM:306700)","F8","c.5373+50T>G","NM_000132.3",null,null,"Intron",null,25,{"$nulls":8},"G"]
["02160816100201_XZ",154134647,"X","T","CT",9,"0;0","0;2","0;0","7;0","0;0","0;0",1,1,0,0,1,"Unknown","1.XR","HEMOPHILIA A (OMIM:306700)","F8","c.5373+48A>G","NM_000132.3",null,null,"Intron",null,22.22,{"$nulls":8},"G"]
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