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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLEC1_chr3_38034208_38129025 | 38084404 | GGTGGTGG others(8): Show |
G | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189 | 1 | 298 | 0.0034 | -15 | c.126 others(32): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38109318 | GAGCCTGG others(8): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0011 | a0011c0049 | a0011c0049t0002 | a0011c0049t0002g0212 | 1 | 298 | 0.0034 | -15 | c.313 others(31): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 21/36 | chr3 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38122649 | TACTCAGT others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0041 | 1 | 298 | 0.0034 | -15 | c.*23 others(24): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 37/37 | 239 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DLG1_chr3_197037560_197303612 | 197073878 | CTTTTTTG others(8): Show |
C | intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0323 | 1 | 330 | 0.0030 | -15 | c.200 others(34): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 18/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197127452 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 327 | 0.0031 | -15 | c.116 others(34): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197239252 | AAAACCTA others(8): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02132.hp2 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0175 a0001c0006t0004g0176 |
2 | 330 | 0.0061 | -15 | c.318 others(34): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197301279 | TAAAAAAA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG02109.hp2 HG02647.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0019 a0001c0001t0003g0241 a0001c0001t0004g0113 others(9): Show |
12 | 16 | 0.7500 | -15 | c.-27 others(26): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 2668 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197302161 | TATCTATC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp1 HG03225.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0238 a0001c0001t0003g0231 a0001c0001t0003g0237 |
3 | 330 | 0.0091 | -15 | c.-36 others(26): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 3550 | chr3 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 83997730 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0014 | 1 | 3 | 0.3333 | -15 | c.920 others(34): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 11/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 84112322 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011 | a0001c0001t0001g0010 a0001c0001t0006g0012 a0001c0001t0011g0013 |
3 | 4 | 0.7500 | -15 | c.625 others(34): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 9/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 84443321 | GTAAAATC others(8): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0003g0003 others(3): Show |
6 | 14 | 0.4286 | -15 | c.519 others(34): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 7/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 84533905 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 8 | 0.1250 | -15 | c.519 others(30): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 7/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 84861625 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03471.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009 | a0001c0001t0001g0009 a0001c0002t0009g0002 |
2 | 14 | 0.1429 | -15 | c.357 others(36): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 6/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 85582660 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 2 | 0.5000 | -15 | c.40+ others(32): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 3/27 | chr11 | TogoVar | |||||||
DLG3_chrX_70439835_70510490 | 70464190 | TTTTCCTT others(8): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0201 |
2 | 110 | 0.0182 | -15 | c.140 others(34): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3507321 | TAAAACAA others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0038 | 1 | 14 | 0.0714 | -15 | c.257 others(34): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 11/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3574779 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01981.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0003g0071 others(9): Show |
12 | 58 | 0.2069 | -15 | c.196 others(34): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 8/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3639359 | GAGAAAAG others(8): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0063 | 1 | 31 | 0.0323 | -15 | c.159 others(36): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3765117 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02572.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0001g0004 a0001c0001t0003g0071 a0001c0001t0012g0054 others(4): Show |
7 | 62 | 0.1129 | -15 | c.117 others(36): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3833195 | TTCCTTCC others(8): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0045 | 1 | 80 | 0.0125 | -15 | c.958 others(34): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4354887 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02970.hp2 NA18906.hp2 NA21309.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0016a0001c0002t0024a0001c0004t0001 | a0001c0002t0016g0072 a0001c0002t0024g0034 a0001c0004t0001g0011 |
3 | 8 | 0.3750 | -15 | c.-26 others(38): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 824017 | CATTTCTT others(8): Show |
C | intron_variant | MODIFIER | HG02818.hp1 NA20300.hp1 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0002t0027a0001c0003t0013 | a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0003t0013g0007 |
3 | 40 | 0.0750 | -15 | c.19- others(32): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 824018 | ATTTCTTC others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp1 HG01361.hp2 others(15): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0009others(7): Show | a0001c0002t0001a0001c0002t0009a0001c0002t0010others(15): Show | a0001c0002t0001g0015 a0001c0002t0009g0039 a0001c0002t0010g0008 others(15): Show |
18 | 24 | 0.7500 | -15 | c.19- others(32): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 973888 | TCCGCCAC others(8): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 HG03486.hp1 |
a0002 | a0002c0001a0002c0007 | a0002c0001t0002a0002c0001t0005a0002c0007t0008 | a0002c0001t0002g0013 a0002c0001t0005g0035 a0002c0007t0008g0040 |
3 | 40 | 0.0750 | -15 | c.73+ others(32): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1190397 | CGGGGCAT others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01361.hp2 others(15): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0009others(4): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0022others(13): Show | a0001c0002t0001g0019 a0001c0002t0006g0011 a0001c0002t0022g0034 others(15): Show |
18 | 40 | 0.4500 | -15 | c.74- others(32): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1267244 | TAAATAAA others(8): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 26 | 0.0385 | -15 | c.106 others(32): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1380937 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0011a0002c0001 | a0001c0003t0006a0001c0011t0015a0002c0001t0002others(2): Show | a0001c0003t0006g0033 a0001c0011t0015g0001 a0002c0001t0002g0032 others(2): Show |
5 | 15 | 0.3333 | -15 | c.107 others(36): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1452209 | TGTGTTCT others(8): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0014a0002c0001t0005 | a0001c0003t0014g0020 a0002c0001t0005g0029 |
2 | 40 | 0.0500 | -15 | c.107 others(34): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1639618 | AATGGTCA others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03492.hp2 NA18906.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0022a0001c0003t0024 | a0001c0002t0002g0022 a0001c0002t0022g0034 a0001c0003t0024g0003 |
3 | 40 | 0.0750 | -15 | c.181 others(34): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1647488 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0013 | 1 | 5 | 0.2000 | -15 | c.181 others(36): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP3_chr1_34860436_34934650 | 34916646 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp2 others(35): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0056 others(35): Show |
38 | 52 | 0.7308 | -15 | c.-13 others(34): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36380592 | AAAGAGAG others(8): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 138 | 0.0072 | -15 | c.-73 others(34): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36525216 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG03491.hp1 HG03704.hp2 others(2): Show |
a0002 | a0002c0003a0002c0013 | a0002c0003t0002a0002c0013t0002 | a0002c0003t0002g0044 a0002c0003t0002g0051 a0002c0003t0002g0053 others(2): Show |
5 | 64 | 0.0781 | -15 | c.260 others(32): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55162099 | CCAAAAAC others(8): Show |
C | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 360 | 0.0028 | -15 | c.165 others(32): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 13/18 | chr14 | TogoVar | |||||||
DLL4_chr15_40924340_40944073 | 40924800 | GTTATTAT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(171): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(50): Show |
174 | 213 | 0.8169 | -15 | c.-48 others(26): Show |
DLL4 | ENSG00000128917.8 | transcript | ENST00000249749.7 | protein_coding | 4539 | chr15 | TogoVar | |||||||
DLST_chr14_74876916_74908743 | 74879450 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0061 |
2 | 97 | 0.0206 | -15 | c.-25 others(26): Show |
DLST | ENSG00000119689.15 | transcript | ENST00000334220.9 | protein_coding | 2465 | chr14 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122634412 | TCTCTCTC others(8): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG02723.hp2 HG02738.hp1 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0007a0003c0003others(3): Show | a0001c0002t0001a0002c0007t0001a0003c0003t0001others(3): Show | a0001c0002t0001g0016 a0002c0007t0001g0222 a0003c0003t0001g0014 others(4): Show |
8 | 247 | 0.0324 | -15 | c.654 others(34): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122634414 | TCTCTCTC others(8): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01981.hp2 others(18): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0023a0002c0007others(6): Show | a0001c0002t0001a0001c0023t0001a0002c0007t0001others(6): Show | a0001c0002t0001g0019 a0001c0002t0001g0121 a0001c0023t0001g0151 others(15): Show |
21 | 255 | 0.0824 | -15 | c.654 others(34): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122648444 | TCCCTCCT others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19062.hp2 | a0050 | a0050c0041 | a0050c0041t0007 | a0050c0041t0007g0227 | 1 | 280 | 0.0036 | -15 | c.*50 others(26): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 4709 | chr10 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31196819 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA18945.hp1 NA18984.hp1 others(2): Show |
a0001a0002a0032others(2): Show | a0001c0001a0002c0051a0032c0045others(2): Show | a0001c0001t0001a0002c0051t0003a0032c0045t0001others(2): Show | a0001c0001t0001g0069 a0002c0051t0003g0091 a0032c0045t0001g0078 others(2): Show |
5 | 7 | 0.7143 | -15 | c.980 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31284557 | TTTCTTCT others(8): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 7 | 0.1429 | -15 | c.922 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31347022 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG02293.hp2 |
a0002a0004 | a0002c0009a0004c0004 | a0002c0009t0001a0004c0004t0001 | a0002c0009t0001g0077 a0004c0004t0001g0080 a0004c0004t0001g0081 |
3 | 126 | 0.0238 | -15 | c.916 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 61/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31648617 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02135.hp1 HG02293.hp1 others(4): Show |
a0002a0003a0005others(2): Show | a0002c0005a0002c0009a0003c0061others(4): Show | a0002c0005t0001a0002c0009t0007a0003c0061t0001others(4): Show | a0002c0005t0001g0043 a0002c0009t0007g0018 a0003c0061t0001g0072 others(4): Show |
7 | 19 | 0.3684 | -15 | c.802 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 54/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32076052 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0008 | a0003c0008t0003 | a0003c0008t0003g0116 | 1 | 28 | 0.0357 | -15 | c.643 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32136552 | TAAACAAA others(8): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01261.hp1 HG03710.hp1 |
a0001a0010a0018 | a0001c0001a0010c0014a0018c0039 | a0001c0001t0001a0010c0014t0001a0018c0039t0001 | a0001c0001t0001g0033 a0010c0014t0001g0014 a0018c0039t0001g0040 |
3 | 9 | 0.3333 | -15 | c.643 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32280150 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG02027.hp1 others(12): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0005others(12): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0002others(12): Show | a0001c0001t0001g0004 a0001c0002t0001g0054 a0002c0005t0002g0015 others(12): Show |
15 | 126 | 0.1190 | -15 | c.629 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32452439 | GGGAAAGG others(8): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0120 | 1 | 100 | 0.0100 | -15 | c.360 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32777285 | GAATCCTA others(8): Show |
G | intron_variant | MODIFIER | NA18961.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0063 | 1 | 126 | 0.0079 | -15 | c.649 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32925145 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02723.hp1 |
a0003 | a0003c0003a0003c0008 | a0003c0003t0017a0003c0008t0002a0003c0008t0003 | a0003c0003t0017g0087 a0003c0008t0002g0125 a0003c0008t0003g0116 |
3 | 69 | 0.0435 | -15 | c.94- others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMGDH_chr5_78992564_79074674 | 79031099 | CGGGCAGC others(8): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00733.hp1 others(98): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0004a0002c0009others(7): Show | a0002c0002t0001a0002c0004t0001a0002c0009t0001others(7): Show | a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0028 others(88): Show |
101 | 370 | 0.2730 | -15 | c.151 others(32): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 9/15 | chr5 | TogoVar |