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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHRS12_chr13_51762993_51809163 | 51775992 | ATGTATTC others(18): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01109.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002a0002c0002t0003g0050a0002c0002t0003g0072others(8): Show | 14 | 420 | 0.0333 | -25 | c.363 others(42): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
DHRS3_chr1_12562910_12623210 | 12615134 | ACAGAAGC others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(195): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0169others(193): Show | 198 | 376 | 0.5266 | -25 | c.195 others(42): Show |
DHRS3 | ENSG00000162496.9 | transcript | ENST00000616661.5 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
DHRS9_chr2_169064563_169101167 | 169091224 | TATAAAAT others(18): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(95): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(3): Show | a0001c0001t0001g0118a0001c0001t0001g0207a0001c0001t0001g0298others(83): Show | 98 | 398 | 0.2462 | -25 | c.573 others(40): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DHX34_chr19_47344315_47387704 | 47384325 | GTTTTTTT others(18): Show |
G | downstream_gene_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0285 | 1 | 382 | 0.0026 | -25 | c.*22 others(36): Show |
DHX34 | ENSG00000134815.19 | transcript | ENST00000328771.9 | protein_coding | 1622 | chr19 | TogoVar | ||||||
DHX36_chr3_154267546_154329487 | 154310801 | AAAAAAAT others(18): Show |
A | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 366 | 0.0027 | -25 | c.642 others(40): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
DHX36_chr3_154267546_154329487 | 154310803 | AAAAATAT others(18): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0183 | 1 | 366 | 0.0027 | -25 | c.642 others(40): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
DHX36_chr3_154267546_154329487 | 154310805 | AAATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03195.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0178a0001c0003t0005g0179 | 2 | 366 | 0.0055 | -25 | c.642 others(40): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
DHX36_chr3_154267546_154329487 | 154310807 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0004a0001c0003t0005a0001c0005t0005others(1): Show | a0001c0001t0004g0040a0001c0003t0005g0009a0001c0003t0005g0180others(3): Show | 7 | 366 | 0.0191 | -25 | c.642 others(40): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
DHX57_chr2_38792729_38880934 | 38844629 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0140 | 1 | 284 | 0.0035 | -25 | c.222 others(44): Show |
DHX57 | ENSG00000163214.21 | transcript | ENST00000457308.6 | protein_coding | 11/23 | chr2 | TogoVar | ||||||
DIAPH1_chr5_141510021_141624000 | 141510879 | GGATATAA others(18): Show |
G | downstream_gene_variant | MODIFIER | HG01168.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0279 | 1 | 336 | 0.0030 | -25 | c.*59 others(36): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 4141 | chr5 | TogoVar | ||||||
DICER1_chr14_95081228_95162529 | 95124663 | TAGTATCT others(18): Show |
T | frameshift_variant others(3): Show |
HIGH | NA19058.hp2 | a0008 | a0008c0018 | a0008c0018t0002 | a0008c0018t0002g0204 | 1 | 306 | 0.0033 | -25 | c.904 others(35): Show |
p.Leu others(5): Show |
DICER1 | ENSG00000100697.17 | transcript | ENST00000343455.8 | protein_coding | 8/27 | 1253/10384 | 904/5769 | 302/1922 | chr14 | TogoVar | ||
DIDO1_chr20_62872743_62931505 | 62913289 | ATCAGGGC others(18): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(32): Show |
a0003a0024 | a0003c0003a0003c0006a0024c0040 | a0003c0003t0001a0003c0006t0001a0024c0040t0001 | a0003c0003t0001g0021a0003c0003t0001g0022a0003c0003t0001g0023others(28): Show | 35 | 320 | 0.1094 | -25 | c.-3+ others(38): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2/15 | chr20 | TogoVar | ||||||
DIO1_chr1_53889187_53916086 | 53891204 | CTGTCTGC others(18): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG02055.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0058a0001c0002t0002g0216a0001c0002t0003g0217others(4): Show | 8 | 452 | 0.0177 | -25 | c.-30 others(36): Show |
DIO1 | ENSG00000211452.12 | transcript | ENST00000361921.8 | protein_coding | 2982 | chr1 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46495225 | TTCTCTTC others(18): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0008 | a0001c0005t0004g0280a0001c0005t0008g0007a0001c0005t0008g0011others(1): Show | 4 | 374 | 0.0107 | -25 | c.284 others(42): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50579639 | AAAAAAAT others(18): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0102 | 1 | 284 | 0.0035 | -25 | c.101 others(44): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50579643 | AAATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0138 | 1 | 284 | 0.0035 | -25 | c.101 others(44): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 477892 | AAGGAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 88 | 0.0114 | -25 | c.158 others(42): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 559955 | GGTTCTCA others(18): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | -25 | c.86- others(42): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 608263 | CCACACAC others(18): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03834.hp1 |
a0001 | a0001c0004a0001c0014 | a0001c0004t0003a0001c0014t0001 | a0001c0004t0003g0078a0001c0014t0001g0044 | 2 | 88 | 0.0227 | -25 | c.85+ others(42): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 685162 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 88 | 0.0114 | -25 | c.85+ others(40): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIRAS3_chr1_68040962_68055627 | 68048048 | AAATATAT others(18): Show |
A | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 376 | 0.0027 | -25 | c.-65 others(40): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232000613 | TTTTCCTT others(18): Show |
T | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 304 | 0.0033 | -25 | c.-93 others(44): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DISC1_chr1_231621790_232046272 | 231762215 | CTTCTTTT others(18): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0019 | a0002c0003t0019g0005 | 1 | 40 | 0.0250 | -25 | c.126 others(44): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DLG1_chr3_197037560_197303612 | 197127434 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03130.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0120a0001c0001t0004g0121a0001c0001t0004g0122 | 3 | 332 | 0.0090 | -25 | c.116 others(44): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197127438 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | NA18988.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0095 | 1 | 332 | 0.0030 | -25 | c.116 others(44): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197127440 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 NA19085.hp1 |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0087a0001c0001t0001g0223a0009c0011t0001g0064 | 3 | 332 | 0.0090 | -25 | c.116 others(44): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197127442 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 332 | 0.0030 | -25 | c.116 others(44): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 83577472 | AAATAGGA others(18): Show |
A | intron_variant | MODIFIER | HG01884.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0009a0001c0001t0005g0011 | 2 | 14 | 0.1429 | -25 | c.194 others(46): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 19/27 | chr11 | TogoVar | ||||||
DLG4_chr17_7182187_7222627 | 7207777 | ACGCACAG others(18): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0339 | 1 | 376 | 0.0027 | -25 | c.96+ others(38): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2/19 | chr17 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3639546 | GGGAATCA others(18): Show |
G | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0048 | 1 | 80 | 0.0125 | -25 | c.159 others(46): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1235528 | TCATGTCT others(18): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01361.hp1 others(17): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0009others(5): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0010others(16): Show | a0001c0002t0002g0021a0001c0002t0009g0039a0001c0002t0010g0008others(17): Show | 20 | 40 | 0.5000 | -25 | c.74- others(42): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1235886 | CCACATGG others(18): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG03516.hp1 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0023a0001c0011t0015 | a0001c0002t0023g0005a0001c0011t0015g0002 | 2 | 40 | 0.0500 | -25 | c.74- others(42): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1236245 | GTCTAGTT others(18): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01361.hp1 others(17): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0009others(5): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0010others(16): Show | a0001c0002t0002g0021a0001c0002t0009g0039a0001c0002t0010g0008others(17): Show | 20 | 40 | 0.5000 | -25 | c.74- others(42): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1239875 | GTGTCTAG others(18): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | -25 | c.74- others(42): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1241339 | GTCTCACA others(18): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0006a0001c0003t0001a0001c0003t0014others(1): Show | a0001c0002t0006g0011a0001c0003t0001g0026a0001c0003t0001g0027others(2): Show | 5 | 40 | 0.1250 | -25 | c.74- others(42): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP3_chr1_34860436_34934650 | 34916646 | TTTTTATT others(18): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(46): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019others(45): Show | 49 | 266 | 0.1842 | -25 | c.-13 others(44): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36343090 | CCCCAGTT others(18): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02630.hp1 others(11): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0125a0001c0001t0004g0134a0001c0001t0004g0135others(11): Show | 14 | 144 | 0.0972 | -25 | c.-30 others(46): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36380592 | AAAGAGAG others(18): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 144 | 0.0069 | -25 | c.-73 others(44): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36525216 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 | 1 | 144 | 0.0069 | -25 | c.260 others(42): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLX4_chr17_49964190_49979959 | 49976610 | TGAGCTCC others(18): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp2 HG02970.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 4 | 404 | 0.0099 | -25 | c.*26 others(36): Show |
DLX4 | ENSG00000108813.12 | transcript | ENST00000240306.5 | protein_coding | 1652 | chr17 | TogoVar | ||||||
DLX4_chr17_49964190_49979959 | 49976618 | TGGGCAGT others(18): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01256.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0001a0001c0001t0015g0001 | 8 | 404 | 0.0198 | -25 | c.*26 others(36): Show |
DLX4 | ENSG00000108813.12 | transcript | ENST00000240306.5 | protein_coding | 1660 | chr17 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122634402 | TTTCTTTC others(18): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG02027.hp2 HG02970.hp2 others(3): Show |
a0005a0076a0077 | a0005c0007a0076c0065a0077c0067 | a0005c0007t0001a0005c0007t0004a0076c0065t0001others(1): Show | a0005c0007t0001g0128a0005c0007t0004g0204a0005c0007t0004g0215others(3): Show | 6 | 282 | 0.0213 | -25 | c.654 others(44): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122634411 | TTCTCTCT others(18): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0015 | a0015c0014 | a0015c0014t0001 | a0015c0014t0001g0087 | 1 | 282 | 0.0036 | -25 | c.654 others(44): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMD_chrX_31114222_33216549 | 31187763 | GAGAGAGA others(18): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0008 | a0003c0008t0023 | a0003c0008t0023g0005 | 1 | 126 | 0.0079 | -25 | c.980 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31459178 | CATACAGT others(18): Show |
C | intron_variant | MODIFIER | HG01934.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0087 | 1 | 126 | 0.0079 | -25 | c.893 others(46): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 59/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31648617 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | NA18944.hp1 | a0026 | a0026c0042 | a0026c0042t0024 | a0026c0042t0024g0070 | 1 | 126 | 0.0079 | -25 | c.802 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 54/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32136552 | TAAACAAA others(18): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0026 | a0002c0026t0006 | a0002c0026t0006g0111 | 1 | 126 | 0.0079 | -25 | c.643 others(46): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32280144 | GTATATAT others(18): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG02056.hp1 HG02083.hp1 others(5): Show |
a0001a0002a0004others(4): Show | a0001c0002a0002c0005a0004c0004others(5): Show | a0001c0002t0001a0002c0005t0001a0004c0004t0001others(5): Show | a0001c0002t0001g0025a0002c0005t0001g0022a0004c0004t0001g0087others(5): Show | 8 | 126 | 0.0635 | -25 | c.629 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32335979 | TGTTATAT others(18): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(71): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0022others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(46): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0026others(71): Show | 74 | 126 | 0.5873 | -25 | c.592 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMPK_chr19_45764717_45787490 | 45785474 | TCCCCTCA others(18): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 416 | 0.0024 | -25 | c.-31 others(36): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 2985 | chr19 | TogoVar |