{"transcript_id":"ENST00000288602","total_population_counts":{"GGVP:ALL":1010,"GGVP:GWD":434,"1000GENOMES:phase_3:FIN":198,"1000GENOMES:phase_3:CEU":198,"1000GENOMES:phase_3:EAS":1008,"1000GENOMES:phase_3:GWD":226,"1000GENOMES:phase_3:ACB":192,"1000GENOMES:phase_3:PJL":192,"1000GENOMES:phase_3:STU":204,"1000GENOMES:phase_3:CDX":186,"1000GENOMES:phase_3:CLM":188,"GGVP:GWJ":196,"1000GENOMES:phase_3:MXL":128,"GGVP:GWF":184,"1000GENOMES:phase_3:PEL":170,"1000GENOMES:phase_3:IBS":214,"1000GENOMES:phase_3:CHB":206,"1000GENOMES:phase_3:MSL":170,"_all":6018,"1000GENOMES:phase_3:AMR":694,"1000GENOMES:phase_3:YRI":216,"1000GENOMES:phase_3:LWK":198,"1000GENOMES:phase_3:GIH":206,"1000GENOMES:phase_3:TSI":214,"1000GENOMES:phase_3:AFR":1322,"1000GENOMES:phase_3:GBR":182,"1000GENOMES:phase_3:BEB":172,"1000GENOMES:phase_3:SAS":978,"1000GENOMES:phase_3:ESN":198,"1000GENOMES:phase_3:ITU":204,"GGVP:GWW":196,"1000GENOMES:phase_3:JPT":208,"1000GENOMES:phase_3:EUR":1006,"1000GENOMES:phase_3:ALL":5008,"1000GENOMES:phase_3:KHV":198,"1000GENOMES:phase_3:PUR":208,"1000GENOMES:phase_3:ASW":122,"1000GENOMES:phase_3:CHS":210},"total_haplotype_count":6018,"cds_haplotypes":[{"population_counts":{"GGVP:GWF":184,"1000GENOMES:phase_3:MXL":115,"1000GENOMES:phase_3:CHB":161,"1000GENOMES:phase_3:IBS":175,"1000GENOMES:phase_3:PEL":154,"1000GENOMES:phase_3:CLM":153,"1000GENOMES:phase_3:CDX":141,"GGVP:GWJ":196,"1000GENOMES:phase_3:ACB":71,"1000GENOMES:phase_3:PJL":123,"1000GENOMES:phase_3:GWD":54,"1000GENOMES:phase_3:EAS":816,"1000GENOMES:phase_3:CEU":171,"1000GENOMES:phase_3:STU":143,"GGVP:GWD":434,"GGVP:ALL":1010,"1000GENOMES:phase_3:FIN":170,"1000GENOMES:phase_3:KHV":153,"1000GENOMES:phase_3:ALL":3234,"1000GENOMES:phase_3:CHS":171,"1000GENOMES:phase_3:ASW":42,"1000GENOMES:phase_3:PUR":160,"1000GENOMES:phase_3:ITU":140,"1000GENOMES:phase_3:ESN":49,"1000GENOMES:phase_3:EUR":847,"1000GENOMES:phase_3:JPT":190,"GGVP:GWW":196,"1000GENOMES:phase_3:TSI":173,"1000GENOMES:phase_3:LWK":43,"1000GENOMES:phase_3:GIH":141,"1000GENOMES:phase_3:SAS":652,"1000GENOMES:phase_3:BEB":105,"1000GENOMES:phase_3:GBR":158,"1000GENOMES:phase_3:AFR":337,"1000GENOMES:phase_3:AMR":582,"1000GENOMES:phase_3:MSL":28,"_all":4244,"1000GENOMES:phase_3:YRI":50},"frequency":0.705217680292456,"population_frequencies":{"1000GENOMES:phase_3:CDX":0.758064516129032,"1000GENOMES:phase_3:CLM":0.813829787234043,"GGVP:GWJ":1,"1000GENOMES:phase_3:MXL":0.8984375,"GGVP:GWF":1,"1000GENOMES:phase_3:PEL":0.905882352941176,"1000GENOMES:phase_3:CHB":0.781553398058252,"1000GENOMES:phase_3:IBS":0.817757009345794,"GGVP:ALL":1,"GGVP:GWD":1,"1000GENOMES:phase_3:FIN":0.858585858585859,"1000GENOMES:phase_3:EAS":0.80952380952381,"1000GENOMES:phase_3:CEU":0.863636363636364,"1000GENOMES:phase_3:ACB":0.369791666666667,"1000GENOMES:phase_3:PJL":0.640625,"1000GENOMES:phase_3:GWD":0.238938053097345,"1000GENOMES:phase_3:STU":0.700980392156863,"1000GENOMES:phase_3:ITU":0.686274509803922,"1000GENOMES:phase_3:ESN":0.247474747474747,"GGVP:GWW":1,"1000GENOMES:phase_3:EUR":0.841948310139165,"1000GENOMES:phase_3:JPT":0.913461538461538,"1000GENOMES:phase_3:KHV":0.772727272727273,"1000GENOMES:phase_3:ALL":0.645766773162939,"1000GENOMES:phase_3:PUR":0.769230769230769,"1000GENOMES:phase_3:CHS":0.814285714285714,"1000GENOMES:phase_3:ASW":0.344262295081967,"1000GENOMES:phase_3:MSL":0.164705882352941,"_all":0.705217680292456,"1000GENOMES:phase_3:AMR":0.838616714697406,"1000GENOMES:phase_3:YRI":0.231481481481481,"1000GENOMES:phase_3:GIH":0.684466019417476,"1000GENOMES:phase_3:LWK":0.217171717171717,"1000GENOMES:phase_3:TSI":0.808411214953271,"1000GENOMES:phase_3:AFR":0.254916792738275,"1000GENOMES:phase_3:GBR":0.868131868131868,"1000GENOMES:phase_3:SAS":0.666666666666667,"1000GENOMES:phase_3:BEB":0.61046511627907},"diffs":[],"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"name":"ENST00000288602:REF","has_indel":0,"hex":"fe85f137021881f9a4cdd43392a3877b","contributing_variants":[],"count":4244,"type":"cds"},{"frequency":0.27650382186773,"population_counts":{"1000GENOMES:phase_3:CEU":26,"1000GENOMES:phase_3:EAS":175,"1000GENOMES:phase_3:PJL":65,"1000GENOMES:phase_3:ACB":109,"1000GENOMES:phase_3:GWD":161,"1000GENOMES:phase_3:STU":60,"1000GENOMES:phase_3:FIN":26,"1000GENOMES:phase_3:MXL":12,"1000GENOMES:phase_3:PEL":16,"1000GENOMES:phase_3:CHB":39,"1000GENOMES:phase_3:IBS":39,"1000GENOMES:phase_3:CDX":44,"1000GENOMES:phase_3:CLM":34,"1000GENOMES:phase_3:LWK":139,"1000GENOMES:phase_3:GIH":64,"1000GENOMES:phase_3:TSI":39,"1000GENOMES:phase_3:AFR":908,"1000GENOMES:phase_3:GBR":23,"1000GENOMES:phase_3:SAS":318,"1000GENOMES:phase_3:BEB":66,"_all":1664,"1000GENOMES:phase_3:MSL":138,"1000GENOMES:phase_3:AMR":110,"1000GENOMES:phase_3:YRI":155,"1000GENOMES:phase_3:KHV":41,"1000GENOMES:phase_3:ALL":1664,"1000GENOMES:phase_3:PUR":48,"1000GENOMES:phase_3:ASW":73,"1000GENOMES:phase_3:CHS":35,"1000GENOMES:phase_3:ITU":63,"1000GENOMES:phase_3:ESN":133,"1000GENOMES:phase_3:JPT":16,"1000GENOMES:phase_3:EUR":153},"has_indel":0,"name":"ENST00000288602:2049A>G","other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"diffs":[{"variation_feature_id":731405043,"diff":"2049A>G","variation_feature":"rs9648696"}],"population_frequencies":{"1000GENOMES:phase_3:JPT":0.0769230769230769,"1000GENOMES:phase_3:EUR":0.152087475149105,"1000GENOMES:phase_3:ITU":0.308823529411765,"1000GENOMES:phase_3:ESN":0.671717171717172,"1000GENOMES:phase_3:CHS":0.166666666666667,"1000GENOMES:phase_3:ASW":0.598360655737705,"1000GENOMES:phase_3:PUR":0.230769230769231,"1000GENOMES:phase_3:KHV":0.207070707070707,"1000GENOMES:phase_3:ALL":0.332268370607029,"1000GENOMES:phase_3:YRI":0.717592592592593,"1000GENOMES:phase_3:MSL":0.811764705882353,"1000GENOMES:phase_3:AMR":0.15850144092219,"_all":0.27650382186773,"1000GENOMES:phase_3:SAS":0.325153374233129,"1000GENOMES:phase_3:BEB":0.383720930232558,"1000GENOMES:phase_3:AFR":0.686838124054463,"1000GENOMES:phase_3:GBR":0.126373626373626,"1000GENOMES:phase_3:TSI":0.182242990654206,"1000GENOMES:phase_3:GIH":0.310679611650485,"1000GENOMES:phase_3:LWK":0.702020202020202,"1000GENOMES:phase_3:CLM":0.180851063829787,"1000GENOMES:phase_3:CDX":0.236559139784946,"1000GENOMES:phase_3:CHB":0.189320388349515,"1000GENOMES:phase_3:IBS":0.182242990654206,"1000GENOMES:phase_3:PEL":0.0941176470588235,"1000GENOMES:phase_3:MXL":0.09375,"1000GENOMES:phase_3:FIN":0.131313131313131,"1000GENOMES:phase_3:STU":0.294117647058824,"1000GENOMES:phase_3:PJL":0.338541666666667,"1000GENOMES:phase_3:ACB":0.567708333333333,"1000GENOMES:phase_3:GWD":0.712389380530973,"1000GENOMES:phase_3:EAS":0.173611111111111,"1000GENOMES:phase_3:CEU":0.131313131313131},"hex":"6b68dfe5ed514c3c8c15231686fb9568","type":"cds","count":1664,"contributing_variants":["rs9648696"]},{"count":46,"type":"cds","contributing_variants":["rs371877084","rs9648696"],"hex":"eb35bffc2a5d29e27e056d7991a100f3","has_indel":0,"diffs":[{"variation_feature":"rs371877084","variation_feature_id":238504614,"diff":"78G>T"},{"diff":"2049A>G","variation_feature_id":731405043,"variation_feature":"rs9648696"}],"other_hexes":{"c1d8fe43f855daf67c218ddc9cdccef5":1},"population_frequencies":{"1000GENOMES:phase_3:AFR":0.0347957639939486,"1000GENOMES:phase_3:ASW":0.040983606557377,"1000GENOMES:phase_3:LWK":0.0202020202020202,"1000GENOMES:phase_3:ALL":0.009185303514377,"1000GENOMES:phase_3:ACB":0.0364583333333333,"1000GENOMES:phase_3:GWD":0.0398230088495575,"1000GENOMES:phase_3:YRI":0.037037037037037,"1000GENOMES:phase_3:MSL":0.0176470588235294,"_all":0.00764373546028581,"1000GENOMES:phase_3:ESN":0.0505050505050505},"name":"ENST00000288602:78G>T,2049A>G","frequency":0.00764373546028581,"population_counts":{"1000GENOMES:phase_3:ESN":10,"1000GENOMES:phase_3:MSL":3,"_all":46,"1000GENOMES:phase_3:YRI":8,"1000GENOMES:phase_3:GWD":9,"1000GENOMES:phase_3:ACB":7,"1000GENOMES:phase_3:ALL":46,"1000GENOMES:phase_3:LWK":4,"1000GENOMES:phase_3:ASW":5,"1000GENOMES:phase_3:AFR":46}},{"population_counts":{"1000GENOMES:phase_3:YRI":3,"1000GENOMES:phase_3:ESN":6,"1000GENOMES:phase_3:MSL":1,"_all":27,"1000GENOMES:phase_3:ASW":2,"1000GENOMES:phase_3:AFR":27,"1000GENOMES:phase_3:ACB":4,"1000GENOMES:phase_3:ALL":27,"1000GENOMES:phase_3:LWK":11},"frequency":0.00448654037886341,"name":"ENST00000288602:1503A>G,2049A>G","population_frequencies":{"1000GENOMES:phase_3:ACB":0.0208333333333333,"1000GENOMES:phase_3:ALL":0.00539137380191693,"1000GENOMES:phase_3:LWK":0.0555555555555556,"1000GENOMES:phase_3:ASW":0.0163934426229508,"1000GENOMES:phase_3:AFR":0.0204236006051437,"1000GENOMES:phase_3:ESN":0.0303030303030303,"1000GENOMES:phase_3:MSL":0.00588235294117647,"_all":0.00448654037886341,"1000GENOMES:phase_3:YRI":0.0138888888888889},"diffs":[{"variation_feature_id":734353560,"diff":"1503A>G","variation_feature":"rs56216404"},{"variation_feature":"rs9648696","variation_feature_id":731405043,"diff":"2049A>G"}],"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"has_indel":0,"hex":"6ec4cbd626a2deaa5d313d2a36ab2f01","contributing_variants":["rs56216404","rs9648696"],"type":"cds","count":27},{"hex":"18ce7cbcdd187b38dc6f5a642223902e","contributing_variants":["rs9648696","rs56046546"],"type":"cds","count":8,"population_counts":{"_all":8,"1000GENOMES:phase_3:EAS":8,"1000GENOMES:phase_3:ALL":8,"1000GENOMES:phase_3:CHB":5,"1000GENOMES:phase_3:JPT":1,"1000GENOMES:phase_3:CHS":2},"frequency":0.00132934529744101,"name":"ENST00000288602:2049A>G,2355A>G","population_frequencies":{"1000GENOMES:phase_3:CHS":0.00952380952380952,"1000GENOMES:phase_3:JPT":0.00480769230769231,"1000GENOMES:phase_3:CHB":0.0242718446601942,"1000GENOMES:phase_3:ALL":0.00159744408945687,"_all":0.00132934529744101,"1000GENOMES:phase_3:EAS":0.00793650793650794},"diffs":[{"diff":"2049A>G","variation_feature_id":731405043,"variation_feature":"rs9648696"},{"variation_feature_id":734286676,"diff":"2355A>G","variation_feature":"rs56046546"}],"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"has_indel":0},{"hex":"eb18585648cb19d9891e56df1f6b1c17","contributing_variants":["rs138333692","rs143335467","rs9648696"],"type":"cds","count":4,"population_counts":{"1000GENOMES:phase_3:PJL":2,"1000GENOMES:phase_3:ALL":4,"1000GENOMES:phase_3:EAS":1,"_all":4,"1000GENOMES:phase_3:CHS":1,"1000GENOMES:phase_3:SAS":3,"1000GENOMES:phase_3:STU":1},"frequency":0.000664672648720505,"name":"ENST00000288602:708C>T,1068A>G,2049A>G","population_frequencies":{"1000GENOMES:phase_3:CHS":0.00476190476190476,"1000GENOMES:phase_3:SAS":0.00306748466257669,"1000GENOMES:phase_3:STU":0.00490196078431373,"1000GENOMES:phase_3:PJL":0.0104166666666667,"1000GENOMES:phase_3:ALL":0.000798722044728434,"_all":0.000664672648720505,"1000GENOMES:phase_3:EAS":0.000992063492063492},"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"diffs":[{"variation_feature_id":192604337,"diff":"708C>T","variation_feature":"rs138333692"},{"variation_feature":"rs143335467","variation_feature_id":194236965,"diff":"1068A>G"},{"diff":"2049A>G","variation_feature_id":731405043,"variation_feature":"rs9648696"}],"has_indel":0},{"population_counts":{"1000GENOMES:phase_3:CHB":1,"1000GENOMES:phase_3:CHS":1,"1000GENOMES:phase_3:EAS":3,"1000GENOMES:phase_3:KHV":1,"_all":3,"1000GENOMES:phase_3:ALL":3},"frequency":0.000498504486540379,"name":"ENST00000288602:375T>G","diffs":[{"diff":"375T>G","variation_feature_id":220691842,"variation_feature":"rs201507202"}],"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"population_frequencies":{"1000GENOMES:phase_3:CHB":0.00485436893203883,"1000GENOMES:phase_3:CHS":0.00476190476190476,"_all":0.000498504486540379,"1000GENOMES:phase_3:EAS":0.00297619047619048,"1000GENOMES:phase_3:KHV":0.00505050505050505,"1000GENOMES:phase_3:ALL":0.000599041533546326},"has_indel":0,"hex":"1bb35cd44710c0ef16906566bbf04edd","contributing_variants":["rs201507202"],"type":"cds","count":3},{"type":"cds","count":3,"contributing_variants":["rs145035762"],"hex":"93042362e8397376113c4f354cb1a3b3","has_indel":0,"name":"ENST00000288602:1347A>G","other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"population_frequencies":{"1000GENOMES:phase_3:ALL":0.000599041533546326,"1000GENOMES:phase_3:CEU":0.00505050505050505,"_all":0.000498504486540379,"1000GENOMES:phase_3:FIN":0.0101010101010101,"1000GENOMES:phase_3:EUR":0.00298210735586481},"diffs":[{"variation_feature":"rs145035762","diff":"1347A>G","variation_feature_id":194857745}],"frequency":0.000498504486540379,"population_counts":{"1000GENOMES:phase_3:EUR":3,"1000GENOMES:phase_3:FIN":2,"_all":3,"1000GENOMES:phase_3:CEU":1,"1000GENOMES:phase_3:ALL":3}},{"population_counts":{"1000GENOMES:phase_3:KHV":2,"1000GENOMES:phase_3:EAS":2,"_all":2,"1000GENOMES:phase_3:ALL":2},"frequency":0.000332336324360253,"population_frequencies":{"1000GENOMES:phase_3:ALL":0.000399361022364217,"1000GENOMES:phase_3:KHV":0.0101010101010101,"_all":0.000332336324360253,"1000GENOMES:phase_3:EAS":0.00198412698412698},"diffs":[{"variation_feature":"rs569455230","diff":"1437A>G","variation_feature_id":279958070}],"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"name":"ENST00000288602:1437A>G","has_indel":0,"hex":"d67d20ac03f7704c7111694fc87ef6eb","contributing_variants":["rs569455230"],"count":2,"type":"cds"},{"frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:GWD":1,"1000GENOMES:phase_3:ALL":1,"_all":1,"1000GENOMES:phase_3:AFR":1},"has_indel":0,"name":"ENST00000288602:1305C>T,2049A>G","diffs":[{"diff":"1305C>T","variation_feature_id":275950614,"variation_feature":"rs560543923"},{"variation_feature":"rs9648696","variation_feature_id":731405043,"diff":"2049A>G"}],"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"population_frequencies":{"1000GENOMES:phase_3:GWD":0.00442477876106195,"_all":0.000166168162180126,"1000GENOMES:phase_3:ALL":0.000199680511182109,"1000GENOMES:phase_3:AFR":0.00075642965204236},"hex":"260a9cabedf7a62a36a3ad544ebebcb8","type":"cds","count":1,"contributing_variants":["rs560543923","rs9648696"]},{"has_indel":0,"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"diffs":[{"variation_feature":"rs552471935","variation_feature_id":261808298,"diff":"1692A>G"},{"variation_feature":"rs9648696","variation_feature_id":731405043,"diff":"2049A>G"}],"population_frequencies":{"1000GENOMES:phase_3:AFR":0.00075642965204236,"1000GENOMES:phase_3:ALL":0.000199680511182109,"_all":0.000166168162180126,"1000GENOMES:phase_3:GWD":0.00442477876106195},"name":"ENST00000288602:1692A>G,2049A>G","frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:GWD":1,"1000GENOMES:phase_3:ALL":1,"_all":1,"1000GENOMES:phase_3:AFR":1},"count":1,"type":"cds","contributing_variants":["rs552471935","rs9648696"],"hex":"2947e0a951d3e847f4321674d82fbba7"},{"type":"cds","count":1,"contributing_variants":["rs201481342"],"hex":"36cc1e99b213e4bda3e38f36cdd4b740","has_indel":0,"name":"ENST00000288602:1024A>G","population_frequencies":{"1000GENOMES:phase_3:ALL":0.000199680511182109,"1000GENOMES:phase_3:AMR":0.00144092219020173,"_all":0.000166168162180126,"1000GENOMES:phase_3:MXL":0.0078125},"diffs":[{"diff":"1024A>G","variation_feature_id":220682309,"variation_feature":"rs201481342"}],"other_hexes":{"6c56147c90895747b63115785cdc36bf":1},"frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:ALL":1,"1000GENOMES:phase_3:MXL":1,"1000GENOMES:phase_3:AMR":1,"_all":1}},{"contributing_variants":["rs56101602"],"type":"cds","count":1,"hex":"47f84c2f3c2abd88fd0a17fc2aff9e8e","name":"ENST00000288602:1452G>A","population_frequencies":{"1000GENOMES:phase_3:EUR":0.00099403578528827,"1000GENOMES:phase_3:TSI":0.00467289719626168,"1000GENOMES:phase_3:ALL":0.000199680511182109,"_all":0.000166168162180126},"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"diffs":[{"variation_feature":"rs56101602","variation_feature_id":734301821,"diff":"1452G>A"}],"has_indel":0,"population_counts":{"1000GENOMES:phase_3:ALL":1,"_all":1,"1000GENOMES:phase_3:TSI":1,"1000GENOMES:phase_3:EUR":1},"frequency":0.000166168162180126},{"contributing_variants":["rs542419443","rs9648696"],"count":1,"type":"cds","hex":"48f762ad41cba9671e9f910ef5248315","diffs":[{"diff":"273A>G","variation_feature_id":257337492,"variation_feature":"rs542419443"},{"diff":"2049A>G","variation_feature_id":731405043,"variation_feature":"rs9648696"}],"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"population_frequencies":{"1000GENOMES:phase_3:SAS":0.00102249488752556,"1000GENOMES:phase_3:ALL":0.000199680511182109,"_all":0.000166168162180126,"1000GENOMES:phase_3:PJL":0.00520833333333333},"name":"ENST00000288602:273A>G,2049A>G","has_indel":0,"population_counts":{"1000GENOMES:phase_3:SAS":1,"1000GENOMES:phase_3:PJL":1,"1000GENOMES:phase_3:ALL":1,"_all":1},"frequency":0.000166168162180126},{"count":1,"type":"cds","contributing_variants":["rs562457397","rs9648696"],"hex":"5505f4badbbfddbe82bd678d59917446","has_indel":0,"population_frequencies":{"_all":0.000166168162180126,"1000GENOMES:phase_3:ALL":0.000199680511182109,"1000GENOMES:phase_3:ACB":0.00520833333333333,"1000GENOMES:phase_3:AFR":0.00075642965204236},"other_hexes":{"40d91bb25b9df9b0033481b93bdc7b0d":1},"diffs":[{"variation_feature_id":276832238,"diff":"2T>A","variation_feature":"rs562457397"},{"variation_feature":"rs9648696","variation_feature_id":731405043,"diff":"2049A>G"}],"name":"ENST00000288602:2T>A,2049A>G","frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:AFR":1,"1000GENOMES:phase_3:ACB":1,"_all":1,"1000GENOMES:phase_3:ALL":1}},{"type":"cds","count":1,"contributing_variants":["rs61730029","rs9648696"],"hex":"7d9eb4b6bf246231aa07d9fc363e118c","has_indel":0,"name":"ENST00000288602:483G>C,2049A>G","population_frequencies":{"1000GENOMES:phase_3:AFR":0.00075642965204236,"1000GENOMES:phase_3:ALL":0.000199680511182109,"1000GENOMES:phase_3:LWK":0.00505050505050505,"_all":0.000166168162180126},"diffs":[{"variation_feature":"rs61730029","variation_feature_id":735033883,"diff":"483G>C"},{"diff":"2049A>G","variation_feature_id":731405043,"variation_feature":"rs9648696"}],"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:AFR":1,"_all":1,"1000GENOMES:phase_3:LWK":1,"1000GENOMES:phase_3:ALL":1}},{"type":"cds","count":1,"contributing_variants":["rs149702741"],"hex":"872533c74ec254865ccb7c71bbed943a","has_indel":0,"name":"ENST00000288602:1752T>C","population_frequencies":{"1000GENOMES:phase_3:AMR":0.00144092219020173,"_all":0.000166168162180126,"1000GENOMES:phase_3:ALL":0.000199680511182109,"1000GENOMES:phase_3:CLM":0.00531914893617021},"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"diffs":[{"variation_feature":"rs149702741","diff":"1752T>C","variation_feature_id":196596818}],"frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:ALL":1,"1000GENOMES:phase_3:AMR":1,"_all":1,"1000GENOMES:phase_3:CLM":1}},{"has_indel":0,"name":"ENST00000288602:66C>A","population_frequencies":{"1000GENOMES:phase_3:EAS":0.000992063492063492,"_all":0.000166168162180126,"1000GENOMES:phase_3:ALL":0.000199680511182109,"1000GENOMES:phase_3:CDX":0.00537634408602151},"other_hexes":{"f8be38794021f2f34c5c16bf0e8fedb5":1},"diffs":[{"diff":"66C>A","variation_feature_id":257954824,"variation_feature":"rs543953468"}],"frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:EAS":1,"_all":1,"1000GENOMES:phase_3:CDX":1,"1000GENOMES:phase_3:ALL":1},"type":"cds","count":1,"contributing_variants":["rs543953468"],"hex":"9cc3ae16d8989a28c3c84d5b49e060f9"},{"hex":"a799e69631b4059e4e9258def980a3de","count":1,"type":"cds","contributing_variants":["rs577372072"],"frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:ALL":1,"1000GENOMES:phase_3:EAS":1,"_all":1,"1000GENOMES:phase_3:JPT":1},"has_indel":0,"population_frequencies":{"1000GENOMES:phase_3:JPT":0.00480769230769231,"1000GENOMES:phase_3:EAS":0.000992063492063492,"_all":0.000166168162180126,"1000GENOMES:phase_3:ALL":0.000199680511182109},"other_hexes":{"09dbe1c715a4ed9cd76809efc6bcd841":1},"diffs":[{"variation_feature":"rs577372072","diff":"1166G>A","variation_feature_id":303996320}],"name":"ENST00000288602:1166G>A"},{"count":1,"type":"cds","contributing_variants":["rs555976452"],"hex":"b5c73358b08a603b53adde7556d594a9","has_indel":0,"diffs":[{"variation_feature":"rs555976452","diff":"2260A>G","variation_feature_id":263385963}],"other_hexes":{"5b2429e045afb46479eaf14a14d80f15":1},"population_frequencies":{"1000GENOMES:phase_3:ALL":0.000199680511182109,"1000GENOMES:phase_3:GIH":0.00485436893203883,"_all":0.000166168162180126,"1000GENOMES:phase_3:SAS":0.00102249488752556},"name":"ENST00000288602:2260A>G","frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:GIH":1,"_all":1,"1000GENOMES:phase_3:ALL":1,"1000GENOMES:phase_3:SAS":1}},{"contributing_variants":["rs201793951"],"type":"cds","count":1,"hex":"c36c2efaef338dcbcc4b3e8cc2e23617","name":"ENST00000288602:2130A>T","population_frequencies":{"1000GENOMES:phase_3:EUR":0.00099403578528827,"_all":0.000166168162180126,"1000GENOMES:phase_3:ALL":0.000199680511182109,"1000GENOMES:phase_3:TSI":0.00467289719626168},"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"diffs":[{"variation_feature":"rs201793951","variation_feature_id":220787813,"diff":"2130A>T"}],"has_indel":0,"population_counts":{"1000GENOMES:phase_3:EUR":1,"1000GENOMES:phase_3:TSI":1,"_all":1,"1000GENOMES:phase_3:ALL":1},"frequency":0.000166168162180126},{"has_indel":0,"other_hexes":{"c3650ba1bc4a4f3aad7ec6b0fa85d83c":1},"diffs":[{"diff":"437G>A","variation_feature_id":274464153,"variation_feature":"rs557241012"},{"variation_feature":"rs9648696","variation_feature_id":731405043,"diff":"2049A>G"}],"population_frequencies":{"1000GENOMES:phase_3:ALL":0.000199680511182109,"_all":0.000166168162180126,"1000GENOMES:phase_3:PJL":0.00520833333333333,"1000GENOMES:phase_3:SAS":0.00102249488752556},"name":"ENST00000288602:437G>A,2049A>G","frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:SAS":1,"1000GENOMES:phase_3:ALL":1,"_all":1,"1000GENOMES:phase_3:PJL":1},"count":1,"type":"cds","contributing_variants":["rs557241012","rs9648696"],"hex":"c765cef11f566a56e97b640532baaaee"},{"hex":"d37c8abd97699892f0d46af34cd43688","count":1,"type":"cds","contributing_variants":["rs570307340","rs9648696"],"frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:EUR":1,"1000GENOMES:phase_3:GBR":1,"_all":1,"1000GENOMES:phase_3:ALL":1},"has_indel":0,"diffs":[{"variation_feature_id":280343169,"diff":"1221C>T","variation_feature":"rs570307340"},{"variation_feature":"rs9648696","diff":"2049A>G","variation_feature_id":731405043}],"population_frequencies":{"1000GENOMES:phase_3:ALL":0.000199680511182109,"_all":0.000166168162180126,"1000GENOMES:phase_3:EUR":0.00099403578528827,"1000GENOMES:phase_3:GBR":0.00549450549450549},"other_hexes":{"1870f5d8fe49074d6723ae84c96712f9":1},"name":"ENST00000288602:1221C>T,2049A>G"},{"contributing_variants":["rs537281594","rs9648696"],"type":"cds","count":1,"hex":"da0c2f1bc9d2277238f090baa145a192","name":"ENST00000288602:1198C>T,2049A>G","population_frequencies":{"1000GENOMES:phase_3:SAS":0.00102249488752556,"1000GENOMES:phase_3:ALL":0.000199680511182109,"_all":0.000166168162180126,"1000GENOMES:phase_3:ITU":0.00490196078431373},"diffs":[{"variation_feature_id":246134293,"diff":"1198C>T","variation_feature":"rs537281594"},{"variation_feature_id":731405043,"diff":"2049A>G","variation_feature":"rs9648696"}],"other_hexes":{"2b6ded36543ec6f023c84827e193c186":1},"has_indel":0,"population_counts":{"1000GENOMES:phase_3:SAS":1,"1000GENOMES:phase_3:ALL":1,"_all":1,"1000GENOMES:phase_3:ITU":1},"frequency":0.000166168162180126},{"population_counts":{"1000GENOMES:phase_3:BEB":1,"1000GENOMES:phase_3:SAS":1,"1000GENOMES:phase_3:ALL":1,"_all":1},"frequency":0.000166168162180126,"other_hexes":{"32c02e8feaa79407a392169503225501":1},"diffs":[{"variation_feature":"rs575016745","variation_feature_id":302969178,"diff":"1419A>C"},{"variation_feature":"rs9648696","variation_feature_id":731405043,"diff":"2049A>G"}],"population_frequencies":{"1000GENOMES:phase_3:SAS":0.00102249488752556,"1000GENOMES:phase_3:BEB":0.00581395348837209,"_all":0.000166168162180126,"1000GENOMES:phase_3:ALL":0.000199680511182109},"name":"ENST00000288602:1419A>C,2049A>G","has_indel":0,"hex":"e697e5888cddcb0b76125a26f6e63a4f","contributing_variants":["rs575016745","rs9648696"],"count":1,"type":"cds"},{"frequency":0.000166168162180126,"population_counts":{"_all":1,"1000GENOMES:phase_3:KHV":1,"1000GENOMES:phase_3:EAS":1,"1000GENOMES:phase_3:ALL":1},"has_indel":0,"diffs":[{"variation_feature_id":258610184,"diff":"1150A>G","variation_feature":"rs545495379"}],"other_hexes":{"b9f1f91e8ab74c6b3ed7c7d547ec8153":1},"population_frequencies":{"1000GENOMES:phase_3:EAS":0.000992063492063492,"_all":0.000166168162180126,"1000GENOMES:phase_3:KHV":0.00505050505050505,"1000GENOMES:phase_3:ALL":0.000199680511182109},"name":"ENST00000288602:1150A>G","hex":"ffd7d9ae87d80716e926c4bcd9b3627a","count":1,"type":"cds","contributing_variants":["rs545495379"]}],"protein_haplotypes":[{"population_counts":{"1000GENOMES:phase_3:CLM":188,"1000GENOMES:phase_3:CDX":185,"GGVP:GWJ":196,"GGVP:GWF":184,"1000GENOMES:phase_3:MXL":127,"1000GENOMES:phase_3:IBS":214,"1000GENOMES:phase_3:CHB":206,"1000GENOMES:phase_3:PEL":170,"GGVP:GWD":434,"GGVP:ALL":1010,"1000GENOMES:phase_3:FIN":198,"1000GENOMES:phase_3:GWD":217,"1000GENOMES:phase_3:ACB":184,"1000GENOMES:phase_3:PJL":191,"1000GENOMES:phase_3:EAS":1005,"1000GENOMES:phase_3:CEU":198,"1000GENOMES:phase_3:STU":204,"1000GENOMES:phase_3:ESN":188,"1000GENOMES:phase_3:ITU":203,"1000GENOMES:phase_3:JPT":207,"1000GENOMES:phase_3:EUR":1006,"GGVP:GWW":196,"1000GENOMES:phase_3:ALL":4953,"1000GENOMES:phase_3:KHV":197,"1000GENOMES:phase_3:CHS":210,"1000GENOMES:phase_3:ASW":117,"1000GENOMES:phase_3:PUR":208,"1000GENOMES:phase_3:MSL":167,"1000GENOMES:phase_3:AMR":693,"_all":5963,"1000GENOMES:phase_3:YRI":208,"1000GENOMES:phase_3:TSI":214,"1000GENOMES:phase_3:GIH":205,"1000GENOMES:phase_3:LWK":194,"1000GENOMES:phase_3:BEB":171,"1000GENOMES:phase_3:SAS":974,"1000GENOMES:phase_3:GBR":182,"1000GENOMES:phase_3:AFR":1275},"flags":[],"frequency":0.990860751080093,"name":"ENSP00000288602:REF","diffs":[],"population_frequencies":{"GGVP:GWW":1,"1000GENOMES:phase_3:EUR":1,"1000GENOMES:phase_3:JPT":0.995192307692308,"1000GENOMES:phase_3:ESN":0.94949494949495,"1000GENOMES:phase_3:ITU":0.995098039215686,"1000GENOMES:phase_3:PUR":1,"1000GENOMES:phase_3:ASW":0.959016393442623,"1000GENOMES:phase_3:CHS":1,"1000GENOMES:phase_3:ALL":0.989017571884984,"1000GENOMES:phase_3:KHV":0.994949494949495,"1000GENOMES:phase_3:YRI":0.962962962962963,"_all":0.990860751080093,"1000GENOMES:phase_3:AMR":0.998559077809798,"1000GENOMES:phase_3:MSL":0.982352941176471,"1000GENOMES:phase_3:GBR":1,"1000GENOMES:phase_3:AFR":0.964447806354009,"1000GENOMES:phase_3:BEB":0.994186046511628,"1000GENOMES:phase_3:SAS":0.995910020449898,"1000GENOMES:phase_3:GIH":0.995145631067961,"1000GENOMES:phase_3:LWK":0.97979797979798,"1000GENOMES:phase_3:TSI":1,"GGVP:GWJ":1,"1000GENOMES:phase_3:CDX":0.994623655913978,"1000GENOMES:phase_3:CLM":1,"1000GENOMES:phase_3:PEL":1,"1000GENOMES:phase_3:IBS":1,"1000GENOMES:phase_3:CHB":1,"1000GENOMES:phase_3:MXL":0.9921875,"GGVP:GWF":1,"1000GENOMES:phase_3:FIN":1,"GGVP:ALL":1,"GGVP:GWD":1,"1000GENOMES:phase_3:STU":1,"1000GENOMES:phase_3:CEU":1,"1000GENOMES:phase_3:EAS":0.99702380952381,"1000GENOMES:phase_3:GWD":0.960176991150443,"1000GENOMES:phase_3:PJL":0.994791666666667,"1000GENOMES:phase_3:ACB":0.958333333333333},"other_hexes":{"eb18585648cb19d9891e56df1f6b1c17":1,"6b68dfe5ed514c3c8c15231686fb9568":1,"1bb35cd44710c0ef16906566bbf04edd":1,"7d9eb4b6bf246231aa07d9fc363e118c":1,"93042362e8397376113c4f354cb1a3b3":1,"d67d20ac03f7704c7111694fc87ef6eb":1,"47f84c2f3c2abd88fd0a17fc2aff9e8e":1,"2947e0a951d3e847f4321674d82fbba7":1,"260a9cabedf7a62a36a3ad544ebebcb8":1,"6ec4cbd626a2deaa5d313d2a36ab2f01":1,"c36c2efaef338dcbcc4b3e8cc2e23617":1,"fe85f137021881f9a4cdd43392a3877b":1,"18ce7cbcdd187b38dc6f5a642223902e":1,"872533c74ec254865ccb7c71bbed943a":1,"48f762ad41cba9671e9f910ef5248315":1,"d37c8abd97699892f0d46af34cd43688":1},"has_indel":0,"hex":"1870f5d8fe49074d6723ae84c96712f9","contributing_variants":[],"type":"protein","count":5963},{"contributing_variants":["rs371877084"],"count":46,"type":"protein","hex":"c1d8fe43f855daf67c218ddc9cdccef5","other_hexes":{"eb35bffc2a5d29e27e056d7991a100f3":1},"diffs":[{"diff":"26E>D","sift_score":0.66,"polyphen_score":0.007,"sift_prediction":"tolerated - low confidence","polyphen_prediction":"benign"}],"population_frequencies":{"1000GENOMES:phase_3:ACB":0.0364583333333333,"1000GENOMES:phase_3:GWD":0.0398230088495575,"1000GENOMES:phase_3:LWK":0.0202020202020202,"1000GENOMES:phase_3:ALL":0.009185303514377,"1000GENOMES:phase_3:ASW":0.040983606557377,"1000GENOMES:phase_3:AFR":0.0347957639939486,"1000GENOMES:phase_3:MSL":0.0176470588235294,"_all":0.00764373546028581,"1000GENOMES:phase_3:ESN":0.0505050505050505,"1000GENOMES:phase_3:YRI":0.037037037037037},"name":"ENSP00000288602:26E>D","has_indel":0,"population_counts":{"1000GENOMES:phase_3:YRI":8,"_all":46,"1000GENOMES:phase_3:MSL":3,"1000GENOMES:phase_3:ESN":10,"1000GENOMES:phase_3:AFR":46,"1000GENOMES:phase_3:ASW":5,"1000GENOMES:phase_3:LWK":4,"1000GENOMES:phase_3:ALL":46,"1000GENOMES:phase_3:ACB":7,"1000GENOMES:phase_3:GWD":9},"frequency":0.00764373546028581,"flags":[]},{"flags":[],"frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:JPT":1,"_all":1,"1000GENOMES:phase_3:EAS":1,"1000GENOMES:phase_3:ALL":1},"has_indel":0,"name":"ENSP00000288602:389R>H","population_frequencies":{"1000GENOMES:phase_3:ALL":0.000199680511182109,"1000GENOMES:phase_3:EAS":0.000992063492063492,"_all":0.000166168162180126,"1000GENOMES:phase_3:JPT":0.00480769230769231},"diffs":[{"sift_prediction":"tolerated","polyphen_prediction":"possibly damaging","diff":"389R>H","sift_score":0.13,"polyphen_score":0.799}],"other_hexes":{"a799e69631b4059e4e9258def980a3de":1},"hex":"09dbe1c715a4ed9cd76809efc6bcd841","type":"protein","count":1,"contributing_variants":["rs577372072"]},{"hex":"2b6ded36543ec6f023c84827e193c186","contributing_variants":["rs537281594"],"type":"protein","count":1,"population_counts":{"_all":1,"1000GENOMES:phase_3:ITU":1,"1000GENOMES:phase_3:ALL":1,"1000GENOMES:phase_3:SAS":1},"flags":[],"frequency":0.000166168162180126,"name":"ENSP00000288602:400R>C","other_hexes":{"da0c2f1bc9d2277238f090baa145a192":1},"diffs":[{"sift_prediction":"tolerated","polyphen_prediction":"possibly damaging","diff":"400R>C","sift_score":0.05,"polyphen_score":0.734}],"population_frequencies":{"1000GENOMES:phase_3:SAS":0.00102249488752556,"1000GENOMES:phase_3:ALL":0.000199680511182109,"_all":0.000166168162180126,"1000GENOMES:phase_3:ITU":0.00490196078431373},"has_indel":0},{"contributing_variants":["rs575016745"],"type":"protein","count":1,"hex":"32c02e8feaa79407a392169503225501","name":"ENSP00000288602:473E>D","other_hexes":{"e697e5888cddcb0b76125a26f6e63a4f":1},"population_frequencies":{"1000GENOMES:phase_3:BEB":0.00581395348837209,"1000GENOMES:phase_3:SAS":0.00102249488752556,"1000GENOMES:phase_3:ALL":0.000199680511182109,"_all":0.000166168162180126},"diffs":[{"sift_prediction":"tolerated","polyphen_prediction":"benign","diff":"473E>D","polyphen_score":0.028,"sift_score":0.5}],"has_indel":0,"population_counts":{"_all":1,"1000GENOMES:phase_3:ALL":1,"1000GENOMES:phase_3:SAS":1,"1000GENOMES:phase_3:BEB":1},"flags":[],"frequency":0.000166168162180126},{"population_counts":{"_all":1,"1000GENOMES:phase_3:ALL":1,"1000GENOMES:phase_3:ACB":1,"1000GENOMES:phase_3:AFR":1},"flags":["deleterious_sift_or_polyphen"],"frequency":0.000166168162180126,"name":"ENSP00000288602:1M>K","population_frequencies":{"1000GENOMES:phase_3:ALL":0.000199680511182109,"_all":0.000166168162180126,"1000GENOMES:phase_3:ACB":0.00520833333333333,"1000GENOMES:phase_3:AFR":0.00075642965204236},"other_hexes":{"5505f4badbbfddbe82bd678d59917446":1},"diffs":[{"sift_score":0,"polyphen_score":0.956,"diff":"1M>K","polyphen_prediction":"probably damaging","sift_prediction":"deleterious - low confidence"}],"has_indel":0,"hex":"40d91bb25b9df9b0033481b93bdc7b0d","contributing_variants":[],"type":"protein","count":1},{"hex":"5b2429e045afb46479eaf14a14d80f15","type":"protein","count":1,"contributing_variants":["rs555976452"],"flags":["deleterious_sift_or_polyphen"],"frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:ALL":1,"_all":1,"1000GENOMES:phase_3:GIH":1,"1000GENOMES:phase_3:SAS":1},"has_indel":0,"name":"ENSP00000288602:754I>V","population_frequencies":{"1000GENOMES:phase_3:SAS":0.00102249488752556,"1000GENOMES:phase_3:ALL":0.000199680511182109,"_all":0.000166168162180126,"1000GENOMES:phase_3:GIH":0.00485436893203883},"other_hexes":{"b5c73358b08a603b53adde7556d594a9":1},"diffs":[{"polyphen_score":0.01,"sift_score":0.04,"diff":"754I>V","polyphen_prediction":"benign","sift_prediction":"deleterious"}]},{"contributing_variants":["rs201481342"],"type":"protein","count":1,"hex":"6c56147c90895747b63115785cdc36bf","name":"ENSP00000288602:342I>V","diffs":[{"diff":"342I>V","polyphen_score":0.018,"sift_score":0.35,"sift_prediction":"tolerated","polyphen_prediction":"benign"}],"other_hexes":{"36cc1e99b213e4bda3e38f36cdd4b740":1},"population_frequencies":{"1000GENOMES:phase_3:ALL":0.000199680511182109,"1000GENOMES:phase_3:MXL":0.0078125,"_all":0.000166168162180126,"1000GENOMES:phase_3:AMR":0.00144092219020173},"has_indel":0,"population_counts":{"1000GENOMES:phase_3:AMR":1,"1000GENOMES:phase_3:MXL":1,"_all":1,"1000GENOMES:phase_3:ALL":1},"flags":[],"frequency":0.000166168162180126},{"type":"protein","count":1,"contributing_variants":["rs545495379"],"hex":"b9f1f91e8ab74c6b3ed7c7d547ec8153","has_indel":0,"name":"ENSP00000288602:384R>G","population_frequencies":{"1000GENOMES:phase_3:ALL":0.000199680511182109,"_all":0.000166168162180126,"1000GENOMES:phase_3:EAS":0.000992063492063492,"1000GENOMES:phase_3:KHV":0.00505050505050505},"diffs":[{"polyphen_prediction":"benign","sift_prediction":"tolerated","polyphen_score":0.018,"sift_score":0.2,"diff":"384R>G"}],"other_hexes":{"ffd7d9ae87d80716e926c4bcd9b3627a":1},"flags":[],"frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:ALL":1,"1000GENOMES:phase_3:KHV":1,"_all":1,"1000GENOMES:phase_3:EAS":1}},{"flags":[],"frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:SAS":1,"1000GENOMES:phase_3:ALL":1,"_all":1,"1000GENOMES:phase_3:PJL":1},"has_indel":0,"name":"ENSP00000288602:146R>Q","diffs":[{"polyphen_prediction":"possibly damaging","sift_prediction":"tolerated","polyphen_score":0.848,"sift_score":0.21,"diff":"146R>Q"}],"population_frequencies":{"1000GENOMES:phase_3:SAS":0.00102249488752556,"1000GENOMES:phase_3:ALL":0.000199680511182109,"_all":0.000166168162180126,"1000GENOMES:phase_3:PJL":0.00520833333333333},"other_hexes":{"c765cef11f566a56e97b640532baaaee":1},"hex":"c3650ba1bc4a4f3aad7ec6b0fa85d83c","type":"protein","count":1,"contributing_variants":["rs557241012"]},{"hex":"f8be38794021f2f34c5c16bf0e8fedb5","type":"protein","count":1,"contributing_variants":["rs543953468"],"flags":["deleterious_sift_or_polyphen"],"frequency":0.000166168162180126,"population_counts":{"1000GENOMES:phase_3:CDX":1,"1000GENOMES:phase_3:ALL":1,"1000GENOMES:phase_3:EAS":1,"_all":1},"has_indel":0,"name":"ENSP00000288602:22D>E","other_hexes":{"9cc3ae16d8989a28c3c84d5b49e060f9":1},"population_frequencies":{"1000GENOMES:phase_3:EAS":0.000992063492063492,"_all":0.000166168162180126,"1000GENOMES:phase_3:ALL":0.000199680511182109,"1000GENOMES:phase_3:CDX":0.00537634408602151},"diffs":[{"polyphen_score":0.995,"sift_score":0.13,"diff":"22D>E","polyphen_prediction":"probably damaging","sift_prediction":"tolerated - low confidence"}]}]}