Open gokudousan opened 1 year ago
Hi, I'm trying to visualize the repeat analyzed with ExpansionHunter. However, whenever I try, the error below comes up and it doesn't work, even I specify ATN1 for locus
[error] Field LocusId must be present in {"LocusResults":{"ATN1":{"AlleleCount":2,"Coverage":18.405405405405403,"FragmentLength":545,"LocusId":"ATN1","ReadLength":150,"Variants":{"ATN1":{"CountsOfFlankingReads":"(3, 1), (5, 2), (8, 1), (9, 1), (10, 2), (11, 1), (14, 4), (17, 2), (18, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(17, 1), (19, 9), (22, 5), (23, 1)","Genotype":"19/22","GenotypeConfidenceInterval":"19-19/22-22","ReferenceRegion":"chr12:6936716-6936773","RepeatUnit":"CAG","VariantId":"ATN1","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"ATXN1":{"AlleleCount":2,"Coverage":24.486486486486488,"FragmentLength":565,"LocusId":"ATXN1","ReadLength":150,"Variants":{"ATXN1":{"CountsOfFlankingReads":"(2, 1), (4, 1), (5, 1), (7, 1), (8, 2), (9, 3), (12, 2), (15, 2), (16, 1), (17, 2), (18, 1), (19, 2), (20, 1), (21, 4), (22, 2), (23, 1), (24, 2), (25, 2), (26, 2), (28, 1), (29, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(29, 6), (30, 5)","Genotype":"29/30","GenotypeConfidenceInterval":"29-29/30-30","ReferenceRegion":"chr6:16327633-16327723","RepeatUnit":"TGC","VariantId":"ATXN1","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"ATXN10":{"AlleleCount":2,"Coverage":25.7027027027027,"FragmentLength":564,"LocusId":"ATXN10","ReadLength":150,"Variants":{"ATXN10":{"CountsOfFlankingReads":"(1, 4), (2, 4), (3, 3), (5, 2), (6, 4), (7, 4), (8, 2), (9, 1), (10, 1), (11, 3), (12, 2), (13, 7), (14, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(7, 1), (14, 10), (16, 7)","Genotype":"14/16","GenotypeConfidenceInterval":"14-14/16-16","ReferenceRegion":"chr22:45795354-45795424","RepeatUnit":"ATTCT","VariantId":"ATXN10","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"ATXN3":{"AlleleCount":2,"Coverage":27.486486486486484,"FragmentLength":553,"LocusId":"ATXN3","ReadLength":150,"Variants":{"ATXN3":{"CountsOfFlankingReads":"(1, 1), (2, 1), (3, 1), (6, 1), (7, 3), (8, 2), (9, 1), (13, 2), (14, 1), (15, 3), (16, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(11, 13), (16, 12)","Genotype":"11/16","GenotypeConfidenceInterval":"11-11/16-16","ReferenceRegion":"chr14:92071009-92071042","RepeatUnit":"GCT","VariantId":"ATXN3","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"ATXN7":{"AlleleCount":2,"Coverage":12.81081081081081,"FragmentLength":551,"LocusId":"ATXN7","ReadLength":150,"Variants":{"ATXN7":{"CountsOfFlankingReads":"(4, 1), (6, 1), (7, 2), (9, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(0, 1), (2, 1), (10, 10)","Genotype":"10/10","GenotypeConfidenceInterval":"10-10/10-10","ReferenceRegion":"chr3:63912684-63912714","RepeatUnit":"GCA","VariantId":"ATXN7","VariantSubtype":"Repeat","VariantType":"Repeat"},"ATXN7_GCC":{"CountsOfFlankingReads":"(1, 1), (2, 2), (3, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(4, 14)","Genotype":"4/4","GenotypeConfidenceInterval":"4-4/4-4","ReferenceRegion":"chr3:63912714-63912726","RepeatUnit":"GCC","VariantId":"ATXN7_GCC","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"ATXN8OS":{"AlleleCount":2,"Coverage":32.67567567567568,"FragmentLength":546,"LocusId":"ATXN8OS","ReadLength":150,"Variants":{"ATXN8OS":{"CountsOfFlankingReads":"(1, 1), (2, 5), (3, 2), (5, 1), (7, 1), (8, 1), (9, 2), (11, 4), (12, 1), (13, 2), (14, 1), (15, 2), (16, 3), (18, 1), (20, 1), (21, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(14, 1), (15, 13), (23, 11)","Genotype":"15/23","GenotypeConfidenceInterval":"15-15/23-23","ReferenceRegion":"chr13:70139383-70139428","RepeatUnit":"CTG","VariantId":"ATXN8OS","VariantSubtype":"Repeat","VariantType":"Repeat"},"ATXN8OS_CTA":{"CountsOfFlankingReads":"(2, 2), (3, 1), (4, 3), (6, 1), (7, 1), (9, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(8, 16), (9, 20)","Genotype":"8/9","GenotypeConfidenceInterval":"8-8/9-9","ReferenceRegion":"chr13:70139353-70139383","RepeatUnit":"CTA","VariantId":"ATXN8OS_CTA","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"C9ORF72":{"AlleleCount":2,"Coverage":20.35135135135135,"FragmentLength":547,"LocusId":"C9ORF72","ReadLength":150,"Variants":{"C9ORF72":{"CountsOfFlankingReads":"(1, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(2, 32)","Genotype":"2/2","GenotypeConfidenceInterval":"2-2/2-2","ReferenceRegion":"chr9:27573528-27573546","RepeatUnit":"GGCCCC","VariantId":"C9ORF72","VariantSubtype":"RareRepeat","VariantType":"Repeat"}}},"CACNA1A":{"AlleleCount":2,"Coverage":19.945945945945947,"FragmentLength":511,"LocusId":"CACNA1A","ReadLength":150,"Variants":{"CACNA1A":{"CountsOfFlankingReads":"(1, 1), (2, 1), (3, 1), (4, 1), (5, 1), (7, 3), (9, 2), (10, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(13, 17)","Genotype":"13/13","GenotypeConfidenceInterval":"13-13/13-13","ReferenceRegion":"chr19:13207858-13207897","RepeatUnit":"CTG","VariantId":"CACNA1A","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"CBL":{"AlleleCount":2,"Coverage":17.513513513513512,"FragmentLength":541,"LocusId":"CBL","ReadLength":150,"Variants":{"CBL":{"CountsOfFlankingReads":"(2, 1), (4, 2), (7, 1), (8, 1), (9, 1), (10, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(11, 24)","Genotype":"11/11","GenotypeConfidenceInterval":"11-11/11-11","ReferenceRegion":"chr11:119206289-119206322","RepeatUnit":"CGG","VariantId":"CBL","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"CNBP":{"AlleleCount":2,"Coverage":25.62162162162162,"FragmentLength":570,"LocusId":"CNBP","ReadLength":150,"Variants":{"CNBP":{"CountsOfFlankingReads":"(1, 1), (2, 3), (3, 1), (4, 2), (6, 2), (7, 4), (10, 1), (15, 3), (19, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(15, 14), (16, 1), (19, 7)","Genotype":"15/19","GenotypeConfidenceInterval":"15-15/19-19","ReferenceRegion":"chr3:129172576-129172656","RepeatUnit":"CAGG","VariantId":"CNBP","VariantSubtype":"Repeat","VariantType":"Repeat"},"CNBP_CA":{"CountsOfFlankingReads":"(3, 1), (4, 2), (5, 1), (6, 1), (7, 2), (8, 1), (9, 1), (10, 2), (11, 1), (14, 1), (15, 3), (17, 2), (18, 3), (19, 2), (20, 1), (23, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(20, 2), (22, 7), (24, 1)","Genotype":"20/22","GenotypeConfidenceInterval":"20-20/22-22","ReferenceRegion":"chr3:129172696-129172732","RepeatUnit":"CA","VariantId":"CNBP_CA","VariantSubtype":"Repeat","VariantType":"Repeat"},"CNBP_CAGA":{"CountsOfFlankingReads":"(1, 1), (2, 2), (4, 1), (6, 1), (8, 1), (9, 1), (10, 5)","CountsOfInrepeatReads":"(2, 1)","CountsOfSpanningReads":"(2, 9), (9, 1), (10, 10)","Genotype":"2/10","GenotypeConfidenceInterval":"2-2/10-10","ReferenceRegion":"chr3:129172656-129172696","RepeatUnit":"CAGA","VariantId":"CNBP_CAGA","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"CSTB":{"AlleleCount":2,"Coverage":18.56756756756757,"FragmentLength":553,"LocusId":"CSTB","ReadLength":150,"Variants":{"CSTB":{"CountsOfFlankingReads":"(1, 3), (2, 4)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(2, 13), (3, 14)","Genotype":"2/3","GenotypeConfidenceInterval":"2-2/3-3","ReferenceRegion":"chr21:43776443-43776479","RepeatUnit":"CGCGGGGCGGGG","VariantId":"CSTB","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"DIP2B":{"AlleleCount":2,"Coverage":22.054054054054053,"FragmentLength":551,"LocusId":"DIP2B","ReadLength":150,"Variants":{"DIP2B":{"CountsOfFlankingReads":"(1, 2), (4, 1), (5, 1), (7, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(7, 18)","Genotype":"7/7","GenotypeConfidenceInterval":"7-7/7-7","ReferenceRegion":"chr12:50505001-50505022","RepeatUnit":"GGC","VariantId":"DIP2B","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"DMPK":{"AlleleCount":2,"Coverage":21.486486486486488,"FragmentLength":528,"LocusId":"DMPK","ReadLength":150,"Variants":{"DMPK":{"CountsOfFlankingReads":"(2, 1), (3, 1), (5, 1), (7, 1), (8, 1), (9, 1), (10, 1), (11, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(5, 11), (13, 8)","Genotype":"5/13","GenotypeConfidenceInterval":"5-5/13-13","ReferenceRegion":"chr19:45770204-45770264","RepeatUnit":"CAG","VariantId":"DMPK","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"FXN":{"AlleleCount":2,"Coverage":21.243243243243242,"FragmentLength":535,"LocusId":"FXN","ReadLength":150,"Variants":{"FXN":{"CountsOfFlankingReads":"(1, 2), (2, 3), (3, 1), (5, 4), (6, 1), (9, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(8, 7), (9, 9)","Genotype":"8/9","GenotypeConfidenceInterval":"8-8/9-9","ReferenceRegion":"chr9:69037286-69037304","RepeatUnit":"GAA","VariantId":"FXN","VariantSubtype":"Repeat","VariantType":"Repeat"},"FXN_A":{"CountsOfFlankingReads":"(4, 1), (14, 1), (17, 1), (20, 2), (21, 1), (27, 1), (38, 1)","CountsOfInrepeatReads":"(13, 1), (63, 1)","CountsOfSpanningReads":"(4, 3), (15, 1), (19, 1), (26, 1), (27, 15), (30, 1), (31, 1), (128, 1)","Genotype":"27/150","GenotypeConfidenceInterval":"27-27/58-259","ReferenceRegion":"chr9:69037261-69037286","RepeatUnit":"A","VariantId":"FXN_A","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"GIPC1":{"AlleleCount":2,"Coverage":19.864864864864867,"FragmentLength":536,"LocusId":"GIPC1","ReadLength":150,"Variants":{"GIPC1":{"CountsOfFlankingReads":"(1, 1), (2, 1), (3, 1), (4, 1), (7, 1), (9, 3), (11, 1), (12, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(11, 1), (12, 22)","Genotype":"12/12","GenotypeConfidenceInterval":"12-12/12-12","ReferenceRegion":"chr19:14496041-14496074","RepeatUnit":"CCG","VariantId":"GIPC1","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"GLS":{"AlleleCount":2,"Coverage":23.513513513513516,"FragmentLength":559,"LocusId":"GLS","ReadLength":150,"Variants":{"GLS":{"CountsOfFlankingReads":"(1, 1), (2, 2), (3, 3), (4, 1), (5, 2), (8, 1), (10, 1), (11, 1), (12, 4), (16, 1), (18, 2), (19, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(15, 11), (19, 8), (20, 1)","Genotype":"15/19","GenotypeConfidenceInterval":"15-15/19-19","ReferenceRegion":"chr2:190880872-190880920","RepeatUnit":"GCA","VariantId":"GLS","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"HTT":{"AlleleCount":2,"Coverage":21.243243243243242,"FragmentLength":531,"LocusId":"HTT","ReadLength":150,"Variants":{"HTT":{"CountsOfFlankingReads":"(2, 1), (3, 2), (4, 2), (5, 1), (6, 1), (7, 1), (8, 1), (9, 1), (11, 1), (14, 5), (15, 1), (16, 3), (17, 2), (19, 1), (20, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(16, 1), (17, 7), (20, 8)","Genotype":"17/20","GenotypeConfidenceInterval":"17-17/20-20","ReferenceRegion":"chr4:3074876-3074933","RepeatUnit":"CAG","VariantId":"HTT","VariantSubtype":"Repeat","VariantType":"Repeat"},"HTT_CCG":{"CountsOfFlankingReads":"(1, 3), (5, 2), (6, 1), (7, 3), (8, 1), (9, 1), (10, 1), (11, 4), (12, 3)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(12, 17)","Genotype":"12/12","GenotypeConfidenceInterval":"12-12/12-12","ReferenceRegion":"chr4:3074939-3074966","RepeatUnit":"CCG","VariantId":"HTT_CCG","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"JPH3":{"AlleleCount":2,"Coverage":22.864864864864863,"FragmentLength":571,"LocusId":"JPH3","ReadLength":150,"Variants":{"JPH3":{"CountsOfFlankingReads":"(1, 1), (2, 1), (4, 1), (7, 1), (8, 1), (9, 2), (11, 2), (12, 1), (13, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(14, 14), (15, 9)","Genotype":"14/15","GenotypeConfidenceInterval":"14-14/15-15","ReferenceRegion":"chr16:87604287-87604329","RepeatUnit":"CTG","VariantId":"JPH3","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"NIPA1":{"AlleleCount":2,"Coverage":16.62162162162162,"FragmentLength":575,"LocusId":"NIPA1","ReadLength":150,"Variants":{"NIPA1":{"CountsOfFlankingReads":"(1, 1), (2, 1), (4, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(3, 1), (5, 1), (8, 14)","Genotype":"8/8","GenotypeConfidenceInterval":"8-8/8-8","ReferenceRegion":"chr15:22786677-22786701","RepeatUnit":"GCG","VariantId":"NIPA1","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"NOP56":{"AlleleCount":2,"Coverage":23.513513513513516,"FragmentLength":543,"LocusId":"NOP56","ReadLength":150,"Variants":{"NOP56":{"CountsOfFlankingReads":"(2, 1), (3, 2), (4, 2), (5, 3), (6, 3), (8, 3)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(7, 10), (8, 16)","Genotype":"7/8","GenotypeConfidenceInterval":"7-7/8-8","ReferenceRegion":"chr20:2652733-2652757","RepeatUnit":"GGCCTG","VariantId":"NOP56","VariantSubtype":"Repeat","VariantType":"Repeat"},"NOP56_CGCCTG":{"CountsOfFlankingReads":"(1, 1), (2, 5)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(2, 28)","Genotype":"2/2","GenotypeConfidenceInterval":"2-2/2-2","ReferenceRegion":"chr20:2652757-2652775","RepeatUnit":"CGCCTG","VariantId":"NOP56_CGCCTG","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"NOTCH2NL":{"AlleleCount":2,"Coverage":17.594594594594593,"FragmentLength":557,"LocusId":"NOTCH2NL","ReadLength":150,"Variants":{"NOTCH2NL":{"CountsOfFlankingReads":"(1, 2), (3, 2), (4, 1), (5, 1), (6, 1), (7, 1), (8, 2), (10, 2), (13, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(1, 1), (9, 5), (15, 7)","Genotype":"9/15","GenotypeConfidenceInterval":"9-9/15-15","ReferenceRegion":"chr1:149390802-149390841","RepeatUnit":"GGC","VariantId":"NOTCH2NL","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"PABPN1":{"AlleleCount":2,"Coverage":17.83783783783784,"FragmentLength":535,"LocusId":"PABPN1","ReadLength":150,"Variants":{"PABPN1":{"CountsOfFlankingReads":"(2, 1), (3, 1), (4, 2), (5, 1), (6, 1), (15, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(5, 1), (6, 18)","Genotype":"6/6","GenotypeConfidenceInterval":"6-6/6-6","ReferenceRegion":"chr14:23321472-23321490","RepeatUnit":"GCG","VariantId":"PABPN1","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"PHOX2B":{"AlleleCount":2,"Coverage":15.486486486486486,"FragmentLength":552,"LocusId":"PHOX2B","ReadLength":150,"Variants":{"PHOX2B":{"CountsOfFlankingReads":"(1, 1), (2, 1), (3, 1), (4, 4), (6, 1), (7, 1), (8, 1), (10, 1), (11, 1), (13, 2), (14, 1), (19, 4), (20, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(20, 6), (34, 1)","Genotype":"20/20","GenotypeConfidenceInterval":"20-20/20-23","ReferenceRegion":"chr4:41745972-41746032","RepeatUnit":"GCN","VariantId":"PHOX2B","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"PPP2R2B":{"AlleleCount":2,"Coverage":22.702702702702705,"FragmentLength":550,"LocusId":"PPP2R2B","ReadLength":150,"Variants":{"PPP2R2B":{"CountsOfFlankingReads":"(3, 3), (5, 2), (6, 1), (7, 1), (8, 1), (9, 5), (10, 1), (12, 1), (13, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(10, 17), (16, 7)","Genotype":"10/16","GenotypeConfidenceInterval":"10-10/16-16","ReferenceRegion":"chr5:146878727-146878757","RepeatUnit":"GCT","VariantId":"PPP2R2B","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"RFC1":{"AlleleCount":2,"Coverage":25.135135135135137,"FragmentLength":548,"LocusId":"RFC1","ReadLength":150,"Variants":{"RFC1":{"CountsOfFlankingReads":"(2, 4), (3, 3), (4, 2), (5, 1), (6, 3), (7, 1), (8, 2), (9, 6), (10, 1), (12, 1), (14, 1), (15, 1), (16, 1), (17, 1), (18, 1), (20, 1), (21, 1), (22, 2), (23, 2), (26, 1), (27, 1), (28, 2)","CountsOfInrepeatReads":"(30, 24), (31, 4)","CountsOfSpanningReads":"(10, 9)","Genotype":"10/88","GenotypeConfidenceInterval":"10-10/69-124","ReferenceRegion":"chr4:39348424-39348479","RepeatUnit":"AARRG","VariantId":"RFC1","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"TBP":{"AlleleCount":2,"Coverage":28.135135135135133,"FragmentLength":540,"LocusId":"TBP","ReadLength":150,"Variants":{"TBP":{"CountsOfFlankingReads":"(1, 3), (2, 1), (3, 2), (4, 2), (5, 1), (7, 1), (9, 1), (10, 1), (11, 1), (12, 1), (13, 1), (16, 2), (17, 1), (19, 2), (20, 3), (22, 2), (25, 1), (26, 4), (27, 1), (30, 1), (33, 1), (36, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(4, 2), (5, 1), (6, 2), (16, 1), (32, 5), (36, 1)","Genotype":"32/36","GenotypeConfidenceInterval":"32-32/36-47","ReferenceRegion":"chr6:170561906-170562017","RepeatUnit":"GCA","VariantId":"TBP","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"TCF4":{"AlleleCount":2,"Coverage":22.702702702702705,"FragmentLength":576,"LocusId":"TCF4","ReadLength":150,"Variants":{"TCF4":{"CountsOfFlankingReads":"(1, 2), (2, 3), (3, 2), (5, 1), (6, 1), (7, 3), (9, 1), (10, 1), (11, 3), (13, 1), (14, 2), (15, 1), (18, 1), (20, 2), (21, 3), (23, 3), (24, 1), (25, 2), (26, 1), (32, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(19, 1), (26, 6), (29, 7)","Genotype":"26/29","GenotypeConfidenceInterval":"26-26/29-29","ReferenceRegion":"chr18:55586155-55586227","RepeatUnit":"CAG","VariantId":"TCF4","VariantSubtype":"Repeat","VariantType":"Repeat"}}}},"SampleParameters":{"SampleId":"DA0000005225","Sex":"Female"}}
Thank you in advance
Hi, I'm trying to visualize the repeat analyzed with ExpansionHunter. However, whenever I try, the error below comes up and it doesn't work, even I specify ATN1 for locus
[error] Field LocusId must be present in {"LocusResults":{"ATN1":{"AlleleCount":2,"Coverage":18.405405405405403,"FragmentLength":545,"LocusId":"ATN1","ReadLength":150,"Variants":{"ATN1":{"CountsOfFlankingReads":"(3, 1), (5, 2), (8, 1), (9, 1), (10, 2), (11, 1), (14, 4), (17, 2), (18, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(17, 1), (19, 9), (22, 5), (23, 1)","Genotype":"19/22","GenotypeConfidenceInterval":"19-19/22-22","ReferenceRegion":"chr12:6936716-6936773","RepeatUnit":"CAG","VariantId":"ATN1","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"ATXN1":{"AlleleCount":2,"Coverage":24.486486486486488,"FragmentLength":565,"LocusId":"ATXN1","ReadLength":150,"Variants":{"ATXN1":{"CountsOfFlankingReads":"(2, 1), (4, 1), (5, 1), (7, 1), (8, 2), (9, 3), (12, 2), (15, 2), (16, 1), (17, 2), (18, 1), (19, 2), (20, 1), (21, 4), (22, 2), (23, 1), (24, 2), (25, 2), (26, 2), (28, 1), (29, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(29, 6), (30, 5)","Genotype":"29/30","GenotypeConfidenceInterval":"29-29/30-30","ReferenceRegion":"chr6:16327633-16327723","RepeatUnit":"TGC","VariantId":"ATXN1","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"ATXN10":{"AlleleCount":2,"Coverage":25.7027027027027,"FragmentLength":564,"LocusId":"ATXN10","ReadLength":150,"Variants":{"ATXN10":{"CountsOfFlankingReads":"(1, 4), (2, 4), (3, 3), (5, 2), (6, 4), (7, 4), (8, 2), (9, 1), (10, 1), (11, 3), (12, 2), (13, 7), (14, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(7, 1), (14, 10), (16, 7)","Genotype":"14/16","GenotypeConfidenceInterval":"14-14/16-16","ReferenceRegion":"chr22:45795354-45795424","RepeatUnit":"ATTCT","VariantId":"ATXN10","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"ATXN3":{"AlleleCount":2,"Coverage":27.486486486486484,"FragmentLength":553,"LocusId":"ATXN3","ReadLength":150,"Variants":{"ATXN3":{"CountsOfFlankingReads":"(1, 1), (2, 1), (3, 1), (6, 1), (7, 3), (8, 2), (9, 1), (13, 2), (14, 1), (15, 3), (16, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(11, 13), (16, 12)","Genotype":"11/16","GenotypeConfidenceInterval":"11-11/16-16","ReferenceRegion":"chr14:92071009-92071042","RepeatUnit":"GCT","VariantId":"ATXN3","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"ATXN7":{"AlleleCount":2,"Coverage":12.81081081081081,"FragmentLength":551,"LocusId":"ATXN7","ReadLength":150,"Variants":{"ATXN7":{"CountsOfFlankingReads":"(4, 1), (6, 1), (7, 2), (9, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(0, 1), (2, 1), (10, 10)","Genotype":"10/10","GenotypeConfidenceInterval":"10-10/10-10","ReferenceRegion":"chr3:63912684-63912714","RepeatUnit":"GCA","VariantId":"ATXN7","VariantSubtype":"Repeat","VariantType":"Repeat"},"ATXN7_GCC":{"CountsOfFlankingReads":"(1, 1), (2, 2), (3, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(4, 14)","Genotype":"4/4","GenotypeConfidenceInterval":"4-4/4-4","ReferenceRegion":"chr3:63912714-63912726","RepeatUnit":"GCC","VariantId":"ATXN7_GCC","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"ATXN8OS":{"AlleleCount":2,"Coverage":32.67567567567568,"FragmentLength":546,"LocusId":"ATXN8OS","ReadLength":150,"Variants":{"ATXN8OS":{"CountsOfFlankingReads":"(1, 1), (2, 5), (3, 2), (5, 1), (7, 1), (8, 1), (9, 2), (11, 4), (12, 1), (13, 2), (14, 1), (15, 2), (16, 3), (18, 1), (20, 1), (21, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(14, 1), (15, 13), (23, 11)","Genotype":"15/23","GenotypeConfidenceInterval":"15-15/23-23","ReferenceRegion":"chr13:70139383-70139428","RepeatUnit":"CTG","VariantId":"ATXN8OS","VariantSubtype":"Repeat","VariantType":"Repeat"},"ATXN8OS_CTA":{"CountsOfFlankingReads":"(2, 2), (3, 1), (4, 3), (6, 1), (7, 1), (9, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(8, 16), (9, 20)","Genotype":"8/9","GenotypeConfidenceInterval":"8-8/9-9","ReferenceRegion":"chr13:70139353-70139383","RepeatUnit":"CTA","VariantId":"ATXN8OS_CTA","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"C9ORF72":{"AlleleCount":2,"Coverage":20.35135135135135,"FragmentLength":547,"LocusId":"C9ORF72","ReadLength":150,"Variants":{"C9ORF72":{"CountsOfFlankingReads":"(1, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(2, 32)","Genotype":"2/2","GenotypeConfidenceInterval":"2-2/2-2","ReferenceRegion":"chr9:27573528-27573546","RepeatUnit":"GGCCCC","VariantId":"C9ORF72","VariantSubtype":"RareRepeat","VariantType":"Repeat"}}},"CACNA1A":{"AlleleCount":2,"Coverage":19.945945945945947,"FragmentLength":511,"LocusId":"CACNA1A","ReadLength":150,"Variants":{"CACNA1A":{"CountsOfFlankingReads":"(1, 1), (2, 1), (3, 1), (4, 1), (5, 1), (7, 3), (9, 2), (10, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(13, 17)","Genotype":"13/13","GenotypeConfidenceInterval":"13-13/13-13","ReferenceRegion":"chr19:13207858-13207897","RepeatUnit":"CTG","VariantId":"CACNA1A","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"CBL":{"AlleleCount":2,"Coverage":17.513513513513512,"FragmentLength":541,"LocusId":"CBL","ReadLength":150,"Variants":{"CBL":{"CountsOfFlankingReads":"(2, 1), (4, 2), (7, 1), (8, 1), (9, 1), (10, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(11, 24)","Genotype":"11/11","GenotypeConfidenceInterval":"11-11/11-11","ReferenceRegion":"chr11:119206289-119206322","RepeatUnit":"CGG","VariantId":"CBL","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"CNBP":{"AlleleCount":2,"Coverage":25.62162162162162,"FragmentLength":570,"LocusId":"CNBP","ReadLength":150,"Variants":{"CNBP":{"CountsOfFlankingReads":"(1, 1), (2, 3), (3, 1), (4, 2), (6, 2), (7, 4), (10, 1), (15, 3), (19, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(15, 14), (16, 1), (19, 7)","Genotype":"15/19","GenotypeConfidenceInterval":"15-15/19-19","ReferenceRegion":"chr3:129172576-129172656","RepeatUnit":"CAGG","VariantId":"CNBP","VariantSubtype":"Repeat","VariantType":"Repeat"},"CNBP_CA":{"CountsOfFlankingReads":"(3, 1), (4, 2), (5, 1), (6, 1), (7, 2), (8, 1), (9, 1), (10, 2), (11, 1), (14, 1), (15, 3), (17, 2), (18, 3), (19, 2), (20, 1), (23, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(20, 2), (22, 7), (24, 1)","Genotype":"20/22","GenotypeConfidenceInterval":"20-20/22-22","ReferenceRegion":"chr3:129172696-129172732","RepeatUnit":"CA","VariantId":"CNBP_CA","VariantSubtype":"Repeat","VariantType":"Repeat"},"CNBP_CAGA":{"CountsOfFlankingReads":"(1, 1), (2, 2), (4, 1), (6, 1), (8, 1), (9, 1), (10, 5)","CountsOfInrepeatReads":"(2, 1)","CountsOfSpanningReads":"(2, 9), (9, 1), (10, 10)","Genotype":"2/10","GenotypeConfidenceInterval":"2-2/10-10","ReferenceRegion":"chr3:129172656-129172696","RepeatUnit":"CAGA","VariantId":"CNBP_CAGA","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"CSTB":{"AlleleCount":2,"Coverage":18.56756756756757,"FragmentLength":553,"LocusId":"CSTB","ReadLength":150,"Variants":{"CSTB":{"CountsOfFlankingReads":"(1, 3), (2, 4)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(2, 13), (3, 14)","Genotype":"2/3","GenotypeConfidenceInterval":"2-2/3-3","ReferenceRegion":"chr21:43776443-43776479","RepeatUnit":"CGCGGGGCGGGG","VariantId":"CSTB","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"DIP2B":{"AlleleCount":2,"Coverage":22.054054054054053,"FragmentLength":551,"LocusId":"DIP2B","ReadLength":150,"Variants":{"DIP2B":{"CountsOfFlankingReads":"(1, 2), (4, 1), (5, 1), (7, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(7, 18)","Genotype":"7/7","GenotypeConfidenceInterval":"7-7/7-7","ReferenceRegion":"chr12:50505001-50505022","RepeatUnit":"GGC","VariantId":"DIP2B","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"DMPK":{"AlleleCount":2,"Coverage":21.486486486486488,"FragmentLength":528,"LocusId":"DMPK","ReadLength":150,"Variants":{"DMPK":{"CountsOfFlankingReads":"(2, 1), (3, 1), (5, 1), (7, 1), (8, 1), (9, 1), (10, 1), (11, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(5, 11), (13, 8)","Genotype":"5/13","GenotypeConfidenceInterval":"5-5/13-13","ReferenceRegion":"chr19:45770204-45770264","RepeatUnit":"CAG","VariantId":"DMPK","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"FXN":{"AlleleCount":2,"Coverage":21.243243243243242,"FragmentLength":535,"LocusId":"FXN","ReadLength":150,"Variants":{"FXN":{"CountsOfFlankingReads":"(1, 2), (2, 3), (3, 1), (5, 4), (6, 1), (9, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(8, 7), (9, 9)","Genotype":"8/9","GenotypeConfidenceInterval":"8-8/9-9","ReferenceRegion":"chr9:69037286-69037304","RepeatUnit":"GAA","VariantId":"FXN","VariantSubtype":"Repeat","VariantType":"Repeat"},"FXN_A":{"CountsOfFlankingReads":"(4, 1), (14, 1), (17, 1), (20, 2), (21, 1), (27, 1), (38, 1)","CountsOfInrepeatReads":"(13, 1), (63, 1)","CountsOfSpanningReads":"(4, 3), (15, 1), (19, 1), (26, 1), (27, 15), (30, 1), (31, 1), (128, 1)","Genotype":"27/150","GenotypeConfidenceInterval":"27-27/58-259","ReferenceRegion":"chr9:69037261-69037286","RepeatUnit":"A","VariantId":"FXN_A","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"GIPC1":{"AlleleCount":2,"Coverage":19.864864864864867,"FragmentLength":536,"LocusId":"GIPC1","ReadLength":150,"Variants":{"GIPC1":{"CountsOfFlankingReads":"(1, 1), (2, 1), (3, 1), (4, 1), (7, 1), (9, 3), (11, 1), (12, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(11, 1), (12, 22)","Genotype":"12/12","GenotypeConfidenceInterval":"12-12/12-12","ReferenceRegion":"chr19:14496041-14496074","RepeatUnit":"CCG","VariantId":"GIPC1","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"GLS":{"AlleleCount":2,"Coverage":23.513513513513516,"FragmentLength":559,"LocusId":"GLS","ReadLength":150,"Variants":{"GLS":{"CountsOfFlankingReads":"(1, 1), (2, 2), (3, 3), (4, 1), (5, 2), (8, 1), (10, 1), (11, 1), (12, 4), (16, 1), (18, 2), (19, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(15, 11), (19, 8), (20, 1)","Genotype":"15/19","GenotypeConfidenceInterval":"15-15/19-19","ReferenceRegion":"chr2:190880872-190880920","RepeatUnit":"GCA","VariantId":"GLS","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"HTT":{"AlleleCount":2,"Coverage":21.243243243243242,"FragmentLength":531,"LocusId":"HTT","ReadLength":150,"Variants":{"HTT":{"CountsOfFlankingReads":"(2, 1), (3, 2), (4, 2), (5, 1), (6, 1), (7, 1), (8, 1), (9, 1), (11, 1), (14, 5), (15, 1), (16, 3), (17, 2), (19, 1), (20, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(16, 1), (17, 7), (20, 8)","Genotype":"17/20","GenotypeConfidenceInterval":"17-17/20-20","ReferenceRegion":"chr4:3074876-3074933","RepeatUnit":"CAG","VariantId":"HTT","VariantSubtype":"Repeat","VariantType":"Repeat"},"HTT_CCG":{"CountsOfFlankingReads":"(1, 3), (5, 2), (6, 1), (7, 3), (8, 1), (9, 1), (10, 1), (11, 4), (12, 3)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(12, 17)","Genotype":"12/12","GenotypeConfidenceInterval":"12-12/12-12","ReferenceRegion":"chr4:3074939-3074966","RepeatUnit":"CCG","VariantId":"HTT_CCG","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"JPH3":{"AlleleCount":2,"Coverage":22.864864864864863,"FragmentLength":571,"LocusId":"JPH3","ReadLength":150,"Variants":{"JPH3":{"CountsOfFlankingReads":"(1, 1), (2, 1), (4, 1), (7, 1), (8, 1), (9, 2), (11, 2), (12, 1), (13, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(14, 14), (15, 9)","Genotype":"14/15","GenotypeConfidenceInterval":"14-14/15-15","ReferenceRegion":"chr16:87604287-87604329","RepeatUnit":"CTG","VariantId":"JPH3","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"NIPA1":{"AlleleCount":2,"Coverage":16.62162162162162,"FragmentLength":575,"LocusId":"NIPA1","ReadLength":150,"Variants":{"NIPA1":{"CountsOfFlankingReads":"(1, 1), (2, 1), (4, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(3, 1), (5, 1), (8, 14)","Genotype":"8/8","GenotypeConfidenceInterval":"8-8/8-8","ReferenceRegion":"chr15:22786677-22786701","RepeatUnit":"GCG","VariantId":"NIPA1","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"NOP56":{"AlleleCount":2,"Coverage":23.513513513513516,"FragmentLength":543,"LocusId":"NOP56","ReadLength":150,"Variants":{"NOP56":{"CountsOfFlankingReads":"(2, 1), (3, 2), (4, 2), (5, 3), (6, 3), (8, 3)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(7, 10), (8, 16)","Genotype":"7/8","GenotypeConfidenceInterval":"7-7/8-8","ReferenceRegion":"chr20:2652733-2652757","RepeatUnit":"GGCCTG","VariantId":"NOP56","VariantSubtype":"Repeat","VariantType":"Repeat"},"NOP56_CGCCTG":{"CountsOfFlankingReads":"(1, 1), (2, 5)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(2, 28)","Genotype":"2/2","GenotypeConfidenceInterval":"2-2/2-2","ReferenceRegion":"chr20:2652757-2652775","RepeatUnit":"CGCCTG","VariantId":"NOP56_CGCCTG","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"NOTCH2NL":{"AlleleCount":2,"Coverage":17.594594594594593,"FragmentLength":557,"LocusId":"NOTCH2NL","ReadLength":150,"Variants":{"NOTCH2NL":{"CountsOfFlankingReads":"(1, 2), (3, 2), (4, 1), (5, 1), (6, 1), (7, 1), (8, 2), (10, 2), (13, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(1, 1), (9, 5), (15, 7)","Genotype":"9/15","GenotypeConfidenceInterval":"9-9/15-15","ReferenceRegion":"chr1:149390802-149390841","RepeatUnit":"GGC","VariantId":"NOTCH2NL","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"PABPN1":{"AlleleCount":2,"Coverage":17.83783783783784,"FragmentLength":535,"LocusId":"PABPN1","ReadLength":150,"Variants":{"PABPN1":{"CountsOfFlankingReads":"(2, 1), (3, 1), (4, 2), (5, 1), (6, 1), (15, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(5, 1), (6, 18)","Genotype":"6/6","GenotypeConfidenceInterval":"6-6/6-6","ReferenceRegion":"chr14:23321472-23321490","RepeatUnit":"GCG","VariantId":"PABPN1","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"PHOX2B":{"AlleleCount":2,"Coverage":15.486486486486486,"FragmentLength":552,"LocusId":"PHOX2B","ReadLength":150,"Variants":{"PHOX2B":{"CountsOfFlankingReads":"(1, 1), (2, 1), (3, 1), (4, 4), (6, 1), (7, 1), (8, 1), (10, 1), (11, 1), (13, 2), (14, 1), (19, 4), (20, 1)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(20, 6), (34, 1)","Genotype":"20/20","GenotypeConfidenceInterval":"20-20/20-23","ReferenceRegion":"chr4:41745972-41746032","RepeatUnit":"GCN","VariantId":"PHOX2B","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"PPP2R2B":{"AlleleCount":2,"Coverage":22.702702702702705,"FragmentLength":550,"LocusId":"PPP2R2B","ReadLength":150,"Variants":{"PPP2R2B":{"CountsOfFlankingReads":"(3, 3), (5, 2), (6, 1), (7, 1), (8, 1), (9, 5), (10, 1), (12, 1), (13, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(10, 17), (16, 7)","Genotype":"10/16","GenotypeConfidenceInterval":"10-10/16-16","ReferenceRegion":"chr5:146878727-146878757","RepeatUnit":"GCT","VariantId":"PPP2R2B","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"RFC1":{"AlleleCount":2,"Coverage":25.135135135135137,"FragmentLength":548,"LocusId":"RFC1","ReadLength":150,"Variants":{"RFC1":{"CountsOfFlankingReads":"(2, 4), (3, 3), (4, 2), (5, 1), (6, 3), (7, 1), (8, 2), (9, 6), (10, 1), (12, 1), (14, 1), (15, 1), (16, 1), (17, 1), (18, 1), (20, 1), (21, 1), (22, 2), (23, 2), (26, 1), (27, 1), (28, 2)","CountsOfInrepeatReads":"(30, 24), (31, 4)","CountsOfSpanningReads":"(10, 9)","Genotype":"10/88","GenotypeConfidenceInterval":"10-10/69-124","ReferenceRegion":"chr4:39348424-39348479","RepeatUnit":"AARRG","VariantId":"RFC1","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"TBP":{"AlleleCount":2,"Coverage":28.135135135135133,"FragmentLength":540,"LocusId":"TBP","ReadLength":150,"Variants":{"TBP":{"CountsOfFlankingReads":"(1, 3), (2, 1), (3, 2), (4, 2), (5, 1), (7, 1), (9, 1), (10, 1), (11, 1), (12, 1), (13, 1), (16, 2), (17, 1), (19, 2), (20, 3), (22, 2), (25, 1), (26, 4), (27, 1), (30, 1), (33, 1), (36, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(4, 2), (5, 1), (6, 2), (16, 1), (32, 5), (36, 1)","Genotype":"32/36","GenotypeConfidenceInterval":"32-32/36-47","ReferenceRegion":"chr6:170561906-170562017","RepeatUnit":"GCA","VariantId":"TBP","VariantSubtype":"Repeat","VariantType":"Repeat"}}},"TCF4":{"AlleleCount":2,"Coverage":22.702702702702705,"FragmentLength":576,"LocusId":"TCF4","ReadLength":150,"Variants":{"TCF4":{"CountsOfFlankingReads":"(1, 2), (2, 3), (3, 2), (5, 1), (6, 1), (7, 3), (9, 1), (10, 1), (11, 3), (13, 1), (14, 2), (15, 1), (18, 1), (20, 2), (21, 3), (23, 3), (24, 1), (25, 2), (26, 1), (32, 2)","CountsOfInrepeatReads":"()","CountsOfSpanningReads":"(19, 1), (26, 6), (29, 7)","Genotype":"26/29","GenotypeConfidenceInterval":"26-26/29-29","ReferenceRegion":"chr18:55586155-55586227","RepeatUnit":"CAG","VariantId":"TCF4","VariantSubtype":"Repeat","VariantType":"Repeat"}}}},"SampleParameters":{"SampleId":"DA0000005225","Sex":"Female"}}
Thank you in advance