view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP1_chr18_3491032_4460307 | 3772342 | C | CTTTCTTT others(15): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 42 | 0.0238 | 22 | c.117 others(43): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4082510 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03209.hp1 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0014a0001c0002t0016 | a0001c0002t0014g0064 a0001c0002t0016g0072 |
2 | 7 | 0.2857 | 22 | c.-15 others(43): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4082753 | A | AGTTGTGA others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0002g0008 others(22): Show |
25 | 80 | 0.3125 | 22 | c.-15 others(43): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1023857 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0001 | 1 | 8 | 0.1250 | 22 | c.73+ others(41): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1267624 | A | AATAAAAT others(15): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 1 | 28 | 0.0357 | 22 | c.106 others(39): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1429997 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0038 | 1 | 25 | 0.0400 | 22 | c.107 others(41): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1430011 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18906.hp1 |
a0002a0004 | a0002c0001a0004c0008 | a0002c0001t0002a0004c0008t0016 | a0002c0001t0002g0013 a0004c0008t0016g0028 |
2 | 21 | 0.0952 | 22 | c.107 others(41): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1683834 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011 | 1 | 28 | 0.0357 | 22 | c.270 others(41): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01952.hp2 HG01978.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0126 a0001c0001t0001g0151 a0001c0001t0003g0008 |
3 | 17 | 0.1765 | 22 | c.-51 others(37): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTTTATAT others(15): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0176 | 1 | 15 | 0.0667 | 22 | c.-51 others(37): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36525216 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0112 | 1 | 60 | 0.0167 | 22 | c.260 others(39): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55169840 | T | TGGTGGCT others(15): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 360 | 0.0028 | 22 | c.138 others(39): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 11/18 | chr14 | TogoVar | |||||||
DLX3_chr17_49985005_50000224 | 49995433 | A | AACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0001 a0001c0001t0010g0009 |
2 | 43 | 0.0465 | 22 | c.-43 others(31): Show |
DLX3 | ENSG00000064195.7 | transcript | ENST00000434704.2 | protein_coding | 210 | chr17 | TogoVar | |||||||
DLX3_chr17_49985005_50000224 | 49995462 | A | ACACACAC others(15): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0008 | 1 | 430 | 0.0023 | 22 | c.-46 others(31): Show |
DLX3 | ENSG00000064195.7 | transcript | ENST00000434704.2 | protein_coding | 239 | chr17 | TogoVar | |||||||
DLX5_chr7_97015396_97029831 | 97016224 | A | AACACACA others(15): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 HG01433.hp2 HG02155.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0002g0001 a0001c0001t0002g0017 |
5 | 10 | 0.5000 | 22 | c.*45 others(33): Show |
DLX5 | ENSG00000105880.7 | transcript | ENST00000648378.1 | protein_coding | 4171 | chr7 | TogoVar | |||||||
DMC1_chr22_38513948_38575183 | 38557956 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18978.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 a0001c0001t0001g0260 |
2 | 135 | 0.0148 | 22 | c.327 others(39): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 5/13 | chr22 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31314744 | G | GAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03195.hp2 NA18948.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0009 | a0001c0001t0001a0001c0002t0001a0002c0009t0007 | a0001c0001t0001g0034 a0001c0002t0001g0021 a0001c0002t0001g0085 others(1): Show |
4 | 126 | 0.0317 | 22 | c.922 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31314779 | A | AGAGAGAG others(15): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 54 | 0.0185 | 22 | c.922 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31321607 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02895.hp1 HG02922.hp2 |
a0002a0025 | a0002c0005a0002c0058a0025c0026 | a0002c0005t0001a0002c0058t0003a0025c0026t0001 | a0002c0005t0001g0088 a0002c0058t0003g0051 a0025c0026t0001g0126 |
3 | 116 | 0.0259 | 22 | c.922 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31351725 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0005 | a0005c0056 | a0005c0056t0001 | a0005c0056t0001g0103 | 1 | 16 | 0.0625 | 22 | c.908 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31394938 | T | TGAGAGAG others(15): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19066.hp1 |
a0001a0007 | a0001c0002a0007c0019 | a0001c0002t0001a0007c0019t0001 | a0001c0002t0001g0068 a0007c0019t0001g0058 |
2 | 42 | 0.0476 | 22 | c.908 others(43): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31473711 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18747.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0071 a0002c0005t0001g0017 |
2 | 109 | 0.0183 | 22 | c.893 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 59/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31628915 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02015.hp1 HG02735.hp1 others(1): Show |
a0001a0002a0006others(1): Show | a0001c0002a0002c0013a0006c0006others(1): Show | a0001c0002t0001a0002c0013t0002a0006c0006t0003others(1): Show | a0001c0002t0001g0101 a0002c0013t0002g0124 a0006c0006t0003g0026 others(1): Show |
4 | 53 | 0.0755 | 22 | c.802 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 54/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31766873 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0098 | 1 | 63 | 0.0159 | 22 | c.754 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 51/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31816794 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 41 | 0.0244 | 22 | c.730 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 50/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31822653 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02922.hp2 HG03710.hp1 |
a0001a0025 | a0001c0001a0001c0021a0025c0026 | a0001c0001t0001a0001c0021t0001a0025c0026t0001 | a0001c0001t0001g0033 a0001c0021t0001g0032 a0025c0026t0001g0126 |
3 | 30 | 0.1000 | 22 | c.720 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31865657 | C | CCCAGTGC others(15): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG00738.hp1 others(76): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0002c0005others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(57): Show | a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0069 others(76): Show |
79 | 126 | 0.6270 | 22 | c.709 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 48/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32027164 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
a0002a0005a0010others(1): Show | a0002c0009a0005c0007a0010c0014others(1): Show | a0002c0009t0002a0005c0007t0002a0010c0014t0001others(1): Show | a0002c0009t0002g0112 a0005c0007t0002g0089 a0010c0014t0001g0014 others(1): Show |
4 | 32 | 0.1250 | 22 | c.643 others(43): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32205005 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0011 | a0011c0046 | a0011c0046t0001 | a0011c0046t0001g0053 | 1 | 74 | 0.0135 | 22 | c.643 others(43): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32246436 | T | TGTCTCTG others(15): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0064 | 1 | 126 | 0.0079 | 22 | c.629 others(43): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32292302 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02040.hp1 HG02056.hp1 others(1): Show |
a0001a0002a0009 | a0001c0002a0002c0005a0009c0015 | a0001c0002t0001a0002c0005t0001a0009c0015t0001 | a0001c0002t0001g0021 a0001c0002t0001g0054 a0002c0005t0001g0017 others(1): Show |
4 | 23 | 0.1739 | 22 | c.611 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 42/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0095 | 1 | 28 | 0.0357 | 22 | c.592 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32418972 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01255.hp1 |
a0002 | a0002c0005a0002c0013 | a0002c0005t0001a0002c0013t0002 | a0002c0005t0001g0043 a0002c0013t0002g0124 |
2 | 83 | 0.0241 | 22 | c.407 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32435275 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01099.hp1 HG02083.hp1 others(7): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(7): Show | a0001c0001t0001g0069 a0001c0001t0003g0035 a0003c0003t0001g0046 others(7): Show |
10 | 52 | 0.1923 | 22 | c.407 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32483164 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01069.hp1 NA19007.hp1 |
a0002a0018 | a0002c0016a0018c0039 | a0002c0016t0001a0018c0039t0001 | a0002c0016t0001g0057 a0018c0039t0001g0040 |
2 | 57 | 0.0351 | 22 | c.280 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32777277 | T | TGGGGGGG others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01074.hp1 others(8): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0005others(7): Show | a0001c0001t0001a0001c0002t0004a0002c0005t0001others(7): Show | a0001c0001t0001g0034 a0001c0002t0004g0110 a0002c0005t0001g0043 others(8): Show |
11 | 14 | 0.7857 | 22 | c.649 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32777277 | T | TGGGGGGG others(15): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02071.hp1 HG03688.hp1 others(4): Show |
a0001a0004a0009others(3): Show | a0001c0001a0001c0002a0004c0004others(4): Show | a0001c0001t0003a0001c0002t0001a0004c0004t0001others(4): Show | a0001c0001t0003g0016 a0001c0002t0001g0100 a0004c0004t0001g0002 others(4): Show |
7 | 10 | 0.7000 | 22 | c.649 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32777277 | T | TGGGGGGG others(15): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18945.hp1 |
a0001a0011 | a0001c0001a0011c0046 | a0001c0001t0001a0011c0046t0001 | a0001c0001t0001g0069 a0011c0046t0001g0053 |
2 | 5 | 0.4000 | 22 | c.649 others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32815520 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 |
a0002a0005 | a0002c0051a0005c0056 | a0002c0051t0003a0005c0056t0001 | a0002c0051t0003g0091 a0005c0056t0001g0103 |
2 | 62 | 0.0323 | 22 | c.530 others(37): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32863509 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0094 | 1 | 70 | 0.0143 | 22 | c.94- others(39): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32863537 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18943.hp1 |
a0003 | a0003c0008a0003c0010 | a0003c0008t0003a0003c0010t0001 | a0003c0008t0003g0116 a0003c0010t0001g0055 |
2 | 6 | 0.3333 | 22 | c.94- others(39): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32870981 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0006 | a0006c0030 | a0006c0030t0004 | a0006c0030t0004g0070 | 1 | 91 | 0.0110 | 22 | c.94- others(39): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32942112 | A | AGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02132.hp1 HG02145.hp1 others(16): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0005others(14): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(15): Show | a0001c0001t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0100 others(16): Show |
19 | 106 | 0.1792 | 22 | c.93+ others(39): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32948113 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0016 | a0002c0016t0005 | a0002c0016t0005g0042 | 1 | 72 | 0.0139 | 22 | c.93+ others(39): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33010062 | A | ATATACAC others(15): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 113 | 0.0088 | 22 | c.93+ others(39): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33045315 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01358.hp1 NA20752.hp1 |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0001a0003c0003t0002a0005c0007t0001 | a0003c0003t0001g0028 a0003c0003t0002g0027 a0005c0007t0001g0120 |
3 | 26 | 0.1154 | 22 | c.32- others(39): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMP1_chr4_87645280_87669357 | 87653407 | A | ATATATAA others(15): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0071 | 1 | 422 | 0.0024 | 22 | c.-22 others(39): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 840722 | G | GGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 NA18982.hp1 NA18983.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006 a0002c0002t0003g0011 a0002c0002t0003g0038 |
3 | 80 | 0.0375 | 22 | c.-11 others(33): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 974 | chr9 | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 842230 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02809.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 others(2): Show |
5 | 101 | 0.0495 | 22 | c.354 others(35): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22054103 | T | TACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02280.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0015a0002c0002t0006others(2): Show | a0001c0001t0001g0071 a0001c0001t0015g0221 a0002c0002t0006g0019 others(4): Show |
9 | 267 | 0.0337 | 22 | c.-32 others(33): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 2710 | chr8 | TogoVar |