regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DUSP26_chr8_33586330_33605023 | 33597882 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG02071.hp1 others(21): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(16): Show | 24 | 420 | 0.0571 | 22 | c.-76 others(37): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
DUSP29_chr10_75032472_75078642 | 75074317 | A | AAAAAATA others(15): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0256 | 1 | 368 | 0.0027 | 22 | c.-78 others(31): Show |
DUSP29 | ENSG00000188716.6 | transcript | ENST00000338487.6 | protein_coding | 676 | chr10 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57161324 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0366 | 2 | 446 | 0.0045 | 22 | c.26- others(35): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57165318 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 446 | 0.0022 | 22 | c.25+ others(37): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
DVL2_chr17_7220342_7239517 | 7233087 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02056.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002 | a0001c0002t0001g0060a0001c0002t0001g0147a0001c0002t0001g0148others(2): Show | 5 | 406 | 0.0123 | 22 | c.194 others(37): Show |
DVL2 | ENSG00000004975.12 | transcript | ENST00000005340.10 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49145108 | C | CACATATA others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0128a0001c0001t0004g0136 | 2 | 290 | 0.0069 | 22 | c.172 others(43): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 15/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49145134 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01168.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0187a0001c0001t0002g0159a0001c0001t0002g0170others(23): Show | 26 | 290 | 0.0897 | 22 | c.172 others(43): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 15/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49289808 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0107a0001c0001t0007g0108a0001c0001t0007g0120 | 3 | 290 | 0.0103 | 22 | c.764 others(39): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49317551 | T | TTGTCTCT others(15): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 290 | 0.0035 | 22 | c.763 others(41): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49317646 | C | CTCCTCTC others(15): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG03669.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0016a0001c0003t0009 | a0001c0001t0002g0189a0001c0001t0016g0125a0001c0001t0016g0140others(1): Show | 4 | 290 | 0.0138 | 22 | c.763 others(41): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 102047637 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03579.hp2 |
a0002 | a0002c0005a0002c0037 | a0002c0005t0056a0002c0037t0021 | a0002c0005t0056g0052a0002c0037t0021g0035 | 2 | 280 | 0.0071 | 22 | c.130 others(41): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DYNC1H1_chr14_101959573_102061443 | 102047639 | G | GTACATAT others(15): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0265 | 1 | 280 | 0.0036 | 22 | c.130 others(41): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DYNC1H1_chr14_101959573_102061443 | 102047641 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02280.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0005 | a0001c0001t0002g0237a0001c0009t0005g0004a0001c0009t0005g0005 | 3 | 280 | 0.0107 | 22 | c.130 others(41): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DYNC1H1_chr14_101959573_102061443 | 102047641 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0015 | 1 | 280 | 0.0036 | 22 | c.130 others(41): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DYNC1I1_chr7_95767554_96103424 | 95823952 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03195.hp2 NA19240.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0094a0001c0001t0001g0130a0001c0001t0001g0164others(1): Show | 4 | 230 | 0.0174 | 22 | c.315 others(39): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC1I1_chr7_95767554_96103424 | 95936956 | T | TCTCACAC others(15): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 230 | 0.0044 | 22 | c.491 others(41): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC1I1_chr7_95767554_96103424 | 95936956 | T | TCTCTCAC others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0188a0001c0002t0001g0190 | 2 | 230 | 0.0087 | 22 | c.491 others(41): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC1I1_chr7_95767554_96103424 | 95986023 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA18966.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0094 | 2 | 230 | 0.0087 | 22 | c.744 others(38): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC1I1_chr7_95767554_96103424 | 96100650 | T | TTGTGTGT others(15): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG02056.hp1 HG03239.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0064a0001c0001t0001g0083others(3): Show | 6 | 230 | 0.0261 | 22 | c.*30 others(33): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 2227 | chr7 | TogoVar | ||||||
DYNC1I2_chr2_171682469_171755158 | 171747207 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0162 | 1 | 334 | 0.0030 | 22 | c.180 others(39): Show |
DYNC1I2 | ENSG00000077380.16 | transcript | ENST00000397119.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103288684 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19012.hp1 |
a0002a0007 | a0002c0003a0007c0013 | a0002c0003t0001a0007c0013t0001 | a0002c0003t0001g0016a0007c0013t0001g0078 | 2 | 262 | 0.0076 | 22 | c.110 others(43): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 75/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103309168 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 262 | 0.0038 | 22 | c.114 others(43): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 78/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103453615 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02572.hp1 HG03209.hp2 |
a0002a0003a0025 | a0002c0016a0003c0002a0025c0043 | a0002c0016t0002a0003c0002t0001a0025c0043t0001 | a0002c0016t0002g0256a0003c0002t0001g0131a0025c0043t0001g0068 | 3 | 262 | 0.0115 | 22 | c.124 others(43): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 85/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103483022 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0062 | 1 | 262 | 0.0038 | 22 | c.*37 others(33): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 3160 | chr11 | TogoVar | ||||||
DYNC2I2_chr9_128628653_128661847 | 128650526 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0059 | 1 | 368 | 0.0027 | 22 | c.186 others(39): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
DYNC2I2_chr9_128628653_128661847 | 128655335 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18906.hp2 NA18960.hp2 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0006t0001 | a0001c0005t0001g0285a0001c0006t0001g0182 | 2 | 368 | 0.0054 | 22 | c.186 others(39): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
DYNC2LI1_chr2_43769039_43815010 | 43782011 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0119 | 1 | 294 | 0.0034 | 22 | c.127 others(39): Show |
DYNC2LI1 | ENSG00000138036.18 | transcript | ENST00000260605.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYNLT1_chr6_158631474_158649743 | 158636051 | G | GTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 396 | 0.0025 | 22 | c.*77 others(31): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 422 | chr6 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 22 | c.*75 others(31): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 396 | 0.0025 | 22 | c.*75 others(31): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01258.hp1 NA18940.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0036 | 4 | 396 | 0.0101 | 22 | c.*75 others(31): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 HG03669.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0020 | 4 | 396 | 0.0101 | 22 | c.*75 others(31): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 NA18999.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0006g0035 | 4 | 396 | 0.0101 | 22 | c.*75 others(31): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
DYNLT2B_chr3_196286219_196323240 | 196317389 | T | TGTGTTGT others(15): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02056.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0234a0001c0001t0001g0235 | 5 | 330 | 0.0152 | 22 | c.113 others(37): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37463203 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0161 | 1 | 350 | 0.0029 | 22 | c.11- others(37): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37479612 | G | GTTTTTGT others(15): Show |
intron_variant | MODIFIER | NA18969.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0027a0001c0001t0006g0035 | 2 | 350 | 0.0057 | 22 | c.301 others(39): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37479614 | T | TTTTGTTT others(15): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0041 | 1 | 350 | 0.0029 | 22 | c.301 others(39): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK4_chr12_4557208_4618875 | 4575298 | A | ATTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01074.hp2 others(22): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0074a0001c0001t0001g0087a0001c0001t0001g0089others(21): Show | 25 | 414 | 0.0604 | 22 | c.132 others(39): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | chr12 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4575298 | A | ATTTTGTG others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01255.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0278a0001c0001t0001g0279a0001c0001t0001g0319others(5): Show | 11 | 414 | 0.0266 | 22 | c.132 others(39): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | chr12 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71565246 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0007 | a0007c0028 | a0007c0028t0004 | a0007c0028t0004g0047 | 1 | 192 | 0.0052 | 22 | c.251 others(41): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 24/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71570883 | C | CAGATCAC others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03139.hp1 NA19240.hp2 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0011a0004c0008t0001g0032a0004c0008t0001g0052 | 3 | 192 | 0.0156 | 22 | c.317 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 29/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71571493 | C | CACACATA others(15): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0013 | a0013c0035 | a0013c0035t0001 | a0013c0035t0001g0051 | 1 | 192 | 0.0052 | 22 | c.317 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 29/54 | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71572027 | T | TACACCTA others(15): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02630.hp1 others(18): Show |
a0001a0005a0007others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(14): Show | a0001c0001t0001g0045a0001c0001t0001g0069a0001c0001t0001g0095others(18): Show | 21 | 192 | 0.1094 | 22 | c.317 others(41): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 29/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71565246 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0009 | a0009c0029 | a0009c0029t0005 | a0009c0029t0005g0084 | 1 | 208 | 0.0048 | 22 | c.256 others(41): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71570883 | C | CAGATCAC others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0081a0004c0011t0001g0103a0004c0011t0001g0146 | 3 | 208 | 0.0144 | 22 | c.322 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71571493 | C | CACACATA others(15): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 208 | 0.0048 | 22 | c.322 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71572027 | T | TACACCTA others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02630.hp1 others(18): Show |
a0001a0006a0009others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(14): Show | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(18): Show | 21 | 208 | 0.1010 | 22 | c.322 others(41): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYTN_chr2_206646621_206723396 | 206675145 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127a0002c0002t0001g0129 | 2 | 382 | 0.0052 | 22 | c.981 others(39): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95610111 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0323 | 1 | 382 | 0.0026 | 22 | c.136 others(39): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 12/22 | chr13 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108622836 | G | GTCTCTCT others(15): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 318 | 0.0031 | 22 | c.376 others(39): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |