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‎data/STRchive-disease-loci.T2T-chm13.TRGT.bed‎

Lines changed: 1 addition & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -53,6 +53,7 @@ chr16 93675723 93675776 ID=HDL2_JPH3;MOTIFS=CTG;STRUC=<TR>
5353
chr17 17754961 17755053 ID=FAME8_RAI1;MOTIFS=ATTTT,TTTCA,TTTTA;STRUC=<TR>
5454
chr17 81047404 81047534 ID=RCPS_EIF4A3;MOTIFS=CCTCGCTGCGCCGCTGCCGA,CCTCGCTGTGCCGCTGCCGA;STRUC=<TR>
5555
chr18 55789233 55789288 ID=FECD3_TCF4;MOTIFS=CAG;STRUC=<TR>
56+
chr19 4496568 4496874 ID=PLIN4_MRUPAV;MOTIFS=TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC;STRUC=<TR>
5657
chr19 13333136 13333176 ID=SCA6_CACNA1A;MOTIFS=CTG;STRUC=<TR>
5758
chr19 14622655 14622692 ID=OPDM2_GIPC1;MOTIFS=CCG;STRUC=<TR>
5859
chr19 18921630 18921645 ID=EDM1-PSACH_COMP;MOTIFS=GTC;STRUC=<TR>

‎data/STRchive-disease-loci.T2T-chm13.bed‎

Lines changed: 1 addition & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -54,6 +54,7 @@ chr16 93675723 93675776 HDL2_JPH3 JPH3 CTG CTG 40 AD Huntington disease-like 2
5454
chr17 17754961 17755053 FAME8_RAI1 RAI1 TTTTA TTTCA 9 AD Familial adult myoclonic epilepsy type 8
5555
chr17 81047404 81047534 RCPS_EIF4A3 EIF4A3 CCTCGCTGTGCCGCTGCCGA CCTCGCTGTGCCGCTGCCGA 14 AR Richieri-Costa-Pereira syndrome
5656
chr18 55789233 55789288 FECD3_TCF4 TCF4 CAG CAG 51 AD Fuchs endothelial corneal dystrophy 3
57+
chr19 4496568 4496874 PLIN4_MRUPAV PLIN4 TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC 39 AD Myopathy with Rimmed Ubiquitin-Positive Autophagic Vacuolation, PLIN4-Related Myopathy
5758
chr19 13333136 13333176 SCA6_CACNA1A CACNA1A CTG CTG 21 AD Spinocerebellar ataxia type 6
5859
chr19 14622655 14622692 OPDM2_GIPC1 GIPC1 CCG CCG 73 AD Oculopharyngodistal myopathy type 2
5960
chr19 18921630 18921645 EDM1-PSACH_COMP COMP GTC GTC 6 AD Multiple epiphyseal dysplasia, Pseudoachondroplasia

‎data/STRchive-disease-loci.hg19.TRGT.bed‎

Lines changed: 1 addition & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -53,6 +53,7 @@ chr16 87637888 87637935 ID=HDL2_JPH3;MOTIFS=CTG;STRUC=<TR>
5353
chr17 17711672 17711774 ID=FAME8_RAI1;MOTIFS=ATTTT,TTTCA,TTTTA;STRUC=<TR>
5454
chr17 78120808 78120938 ID=RCPS_EIF4A3;MOTIFS=CCTCGCTGCGCCGCTGCCGA,CCTCGCTGTGCCGCTGCCGA;STRUC=<TR>
5555
chr18 53253384 53253460 ID=FECD3_TCF4;MOTIFS=CAG;STRUC=<TR>
56+
chr19 4512897 4513203 ID=PLIN4_MRUPAV;MOTIFS=TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC;STRUC=<TR>
5657
chr19 13318672 13318712 ID=SCA6_CACNA1A;MOTIFS=CTG;STRUC=<TR>
5758
chr19 14606853 14606887 ID=OPDM2_GIPC1;MOTIFS=CCG;STRUC=<TR>
5859
chr19 18896844 18896860 ID=EDM1-PSACH_COMP;MOTIFS=GTC;STRUC=<TR>

‎data/STRchive-disease-loci.hg19.bed‎

Lines changed: 1 addition & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -54,6 +54,7 @@ chr16 87637888 87637935 HDL2_JPH3 JPH3 CTG CTG 40 AD Huntington disease-like 2
5454
chr17 17711672 17711774 FAME8_RAI1 RAI1 TTTTA TTTCA 9 AD Familial adult myoclonic epilepsy type 8
5555
chr17 78120808 78120938 RCPS_EIF4A3 EIF4A3 CCTCGCTGTGCCGCTGCCGA CCTCGCTGTGCCGCTGCCGA 14 AR Richieri-Costa-Pereira syndrome
5656
chr18 53253384 53253460 FECD3_TCF4 TCF4 CAG CAG 51 AD Fuchs endothelial corneal dystrophy 3
57+
chr19 4512897 4513203 PLIN4_MRUPAV PLIN4 TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC 39 AD Myopathy with Rimmed Ubiquitin-Positive Autophagic Vacuolation, PLIN4-Related Myopathy
5758
chr19 13318672 13318712 SCA6_CACNA1A CACNA1A CTG CTG 21 AD Spinocerebellar ataxia type 6
5859
chr19 14606853 14606887 OPDM2_GIPC1 GIPC1 CCG CCG 73 AD Oculopharyngodistal myopathy type 2
5960
chr19 18896844 18896860 EDM1-PSACH_COMP COMP GTC GTC 6 AD Multiple epiphyseal dysplasia, Pseudoachondroplasia

‎data/STRchive-disease-loci.hg38.TRGT.bed‎

Lines changed: 1 addition & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -53,6 +53,7 @@ chr16 87604282 87604329 ID=HDL2_JPH3;MOTIFS=CTG;STRUC=<TR>
5353
chr17 17808358 17808460 ID=FAME8_RAI1;MOTIFS=ATTTT,TTTCA,TTTTA;STRUC=<TR>
5454
chr17 80147009 80147139 ID=RCPS_EIF4A3;MOTIFS=CCTCGCTGCGCCGCTGCCGA,CCTCGCTGTGCCGCTGCCGA;STRUC=<TR>
5555
chr18 55586153 55586229 ID=FECD3_TCF4;MOTIFS=CAG;STRUC=<TR>
56+
chr19 4512885 4513191 ID=PLIN4_MRUPAV;MOTIFS=TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC;STRUC=<TR>
5657
chr19 13207858 13207898 ID=SCA6_CACNA1A;MOTIFS=CTG;STRUC=<TR>
5758
chr19 14496041 14496075 ID=OPDM2_GIPC1;MOTIFS=CCG;STRUC=<TR>
5859
chr19 18786034 18786050 ID=EDM1-PSACH_COMP;MOTIFS=GTC;STRUC=<TR>

‎data/STRchive-disease-loci.hg38.bed‎

Lines changed: 1 addition & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -54,6 +54,7 @@ chr16 87604282 87604329 HDL2_JPH3 JPH3 CTG CTG 40 AD Huntington disease-like 2
5454
chr17 17808358 17808460 FAME8_RAI1 RAI1 TTTTA TTTCA 9 AD Familial adult myoclonic epilepsy type 8
5555
chr17 80147009 80147139 RCPS_EIF4A3 EIF4A3 CCTCGCTGTGCCGCTGCCGA CCTCGCTGTGCCGCTGCCGA 14 AR Richieri-Costa-Pereira syndrome
5656
chr18 55586153 55586229 FECD3_TCF4 TCF4 CAG CAG 51 AD Fuchs endothelial corneal dystrophy 3
57+
chr19 4512885 4513191 PLIN4_MRUPAV PLIN4 TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC 39 AD Myopathy with Rimmed Ubiquitin-Positive Autophagic Vacuolation, PLIN4-Related Myopathy
5758
chr19 13207858 13207898 SCA6_CACNA1A CACNA1A CTG CTG 21 AD Spinocerebellar ataxia type 6
5859
chr19 14496041 14496075 OPDM2_GIPC1 GIPC1 CCG CCG 73 AD Oculopharyngodistal myopathy type 2
5960
chr19 18786034 18786050 EDM1-PSACH_COMP COMP GTC GTC 6 AD Multiple epiphyseal dysplasia, Pseudoachondroplasia

‎data/ref-alleles/ref-alleles.T2T-chm13.txt‎

Lines changed: 6 additions & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -328,6 +328,12 @@ chr18 55789233 55789288 CAG TRGT
328328
GAGGAGGAGG AG CAG CAG CAG CAG CAG CAG CAG CAC CAG CAG CAG CAG CAG CAG CAG CAG CAG CA TGAAAGAGCC
329329
GAGGAGGAGG AG CAG CAG CAG CAG CAG CAG CAG CAC CAG CAG CAG CAG CAG CAG CAG CAG CAG CA TGAAAGAGCC
330330

331+
PLIN4_MRUPAV
332+
chr19 4496568 4496874 TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC STRchive
333+
chr19 4496568 4496874 TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TRGT
334+
CAGTCTTGGT GGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACTGGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTACTGGTGTCCAC ACCGGTCTGA
335+
CAGTCTTGGT GGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACTGGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTACTGGTGTCCAC ACCGGTCTGA
336+
331337
SCA6_CACNA1A
332338
chr19 13333136 13333176 CTG STRchive
333339
chr19 13333136 13333176 CTG TRGT

‎data/ref-alleles/ref-alleles.hg19.txt‎

Lines changed: 6 additions & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -328,6 +328,12 @@ chr18 53253384 53253460 CAG TRGT
328328
GAGGAGGAGG AG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CA TGAAAGAGCC
329329
GAGGAGGAGG AG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CA TGAAAGAGCC
330330

331+
PLIN4_MRUPAV
332+
chr19 4512897 4513203 TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC STRchive
333+
chr19 4512897 4513203 TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TRGT
334+
CAGTCTTGGT GGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCAC ACCGGTCTGA
335+
CAGTCTTGGT GGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCAC ACCGGTCTGA
336+
331337
SCA6_CACNA1A
332338
chr19 13318672 13318712 CTG STRchive
333339
chr19 13318672 13318712 CTG TRGT

‎data/ref-alleles/ref-alleles.hg38.txt‎

Lines changed: 6 additions & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -328,6 +328,12 @@ chr18 55586153 55586229 CAG TRGT
328328
GAGGAGGAGG AG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CA TGAAAGAGCC
329329
GAGGAGGAGG AG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CA TGAAAGAGCC
330330

331+
PLIN4_MRUPAV
332+
chr19 4512885 4513191 TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC STRchive
333+
chr19 4512885 4513191 TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TRGT
334+
CAGTCTTGGT GGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCAC ACCGGTCTGA
335+
CAGTCTTGGT GGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCAC ACCGGTCTGA
336+
331337
SCA6_CACNA1A
332338
chr19 13207858 13207898 CTG STRchive
333339
chr19 13207858 13207898 CTG TRGT

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