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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DST_chr6_56452996_56959830 | 56722362 | A | ATGTTTGT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 |
a0026a0030 | a0026c0055a0030c0050 | a0026c0055t0002a0030c0050t0001 | a0026c0055t0002g0021 a0030c0050t0001g0019 |
2 | 84 | 0.0238 | 20 | c.687 others(39): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56722368 | G | GTTTGTTT others(13): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0049 | a0049c0022 | a0049c0022t0001 | a0049c0022t0001g0027 | 1 | 84 | 0.0119 | 20 | c.687 others(39): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56722368 | G | GTTTGTTT others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0046 | a0046c0018 | a0046c0018t0005 | a0046c0018t0005g0044 | 1 | 84 | 0.0119 | 20 | c.687 others(39): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56812109 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01109.hp1 others(9): Show |
a0001a0003a0009others(8): Show | a0001c0001a0003c0006a0009c0049others(8): Show | a0001c0001t0001a0003c0006t0001a0009c0049t0001others(8): Show | a0001c0001t0001g0033 a0001c0001t0001g0084 a0003c0006t0001g0040 others(9): Show |
12 | 84 | 0.1429 | 20 | c.625 others(39): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 4/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56916753 | A | ATCTCTCT others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0036 | a0036c0011 | a0036c0011t0001 | a0036c0011t0001g0075 | 1 | 84 | 0.0119 | 20 | c.217 others(39): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 2/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56934560 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG02622.hp1 others(1): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0001a0002c0002t0001 | a0001c0005t0001g0079 a0002c0002t0001g0065 a0002c0002t0001g0067 others(1): Show |
4 | 84 | 0.0476 | 20 | c.216 others(39): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 2/103 | chr6 | TogoVar | |||||||
DST_chr6_56609597_56647889 | 56641115 | C | CAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0041 | 1 | 326 | 0.0031 | 20 | c.417 others(35): Show |
DST | ENSG00000151914.22 | transcript | ENST00000370765.11 | protein_coding | 3/23 | chr6 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18623874 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01070.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0273 a0001c0001t0001g0285 a0001c0001t0001g0287 others(9): Show |
12 | 398 | 0.0302 | 20 | c.371 others(37): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18695476 | C | CTTCCCTT others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0368 | 1 | 398 | 0.0025 | 20 | c.478 others(39): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18708207 | T | TAAATATA others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0386 | 1 | 398 | 0.0025 | 20 | c.478 others(39): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | chr20 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18708323 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 398 | 0.0025 | 20 | c.478 others(39): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTNA_chr18_34705298_34896844 | 34722606 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 112 | 0.0089 | 20 | c.-2+ others(37): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DTNA_chr18_34705298_34896844 | 34747104 | C | CTATCTAT others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0005 | a0001c0001t0006g0003 a0001c0002t0005g0002 |
2 | 112 | 0.0179 | 20 | c.-1- others(35): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25416804 | C | CGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG03831.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0002t0001g0151 |
3 | 168 | 0.0179 | 20 | c.157 others(39): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25526395 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 168 | 0.0060 | 20 | c.100 others(39): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
DTWD1_chr15_49616048_49661232 | 49633043 | C | CTATCTAT others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0023 a0001c0001t0007g0023 a0001c0001t0007g0059 |
3 | 342 | 0.0088 | 20 | c.408 others(35): Show |
DTWD1 | ENSG00000104047.15 | transcript | ENST00000403028.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DTWD2_chr5_118831074_118993547 | 118843371 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 2 | 242 | 0.0083 | 20 | c.727 others(37): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 5/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118945774 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02647.hp2 HG02896.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0003a0001c0001t0027a0001c0002t0001others(1): Show | a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0017 others(3): Show |
6 | 242 | 0.0248 | 20 | c.219 others(37): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 1/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118985490 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG04115.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0114 |
2 | 242 | 0.0083 | 20 | c.218 others(37): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 1/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118985517 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0112 | 1 | 242 | 0.0041 | 20 | c.218 others(37): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 1/5 | chr5 | TogoVar | |||||||
DTX1_chr12_113051730_113103025 | 113080589 | A | AGAATGGA others(13): Show |
intron_variant | MODIFIER | HG01993.hp2 HG03471.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081 a0001c0001t0001g0301 a0001c0001t0002g0188 |
3 | 338 | 0.0089 | 20 | c.941 others(37): Show |
DTX1 | ENSG00000135144.8 | transcript | ENST00000548759.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76468758 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03139.hp2 NA18984.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 |
3 | 280 | 0.0107 | 20 | c.-90 others(37): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX3L_chr3_122559338_122580203 | 122562156 | C | CTCTTTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02630.hp1 NA18906.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0007a0003c0007t0013a0003c0007t0037 | a0001c0001t0007g0027 a0003c0007t0013g0053 a0003c0007t0037g0053 |
3 | 472 | 0.0064 | 20 | c.-22 others(31): Show |
DTX3L | ENSG00000163840.10 | transcript | ENST00000296161.9 | protein_coding | 2181 | chr3 | TogoVar | |||||||
DTX3L_chr3_122559338_122580203 | 122579999 | G | GTATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0003 | 1 | 472 | 0.0021 | 20 | c.*82 others(31): Show |
DTX3L | ENSG00000163840.10 | transcript | ENST00000296161.9 | protein_coding | 4797 | chr3 | TogoVar | |||||||
DTX4_chr11_59167132_59213588 | 59206509 | G | GTATATAT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02896.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0017 | a0001c0001t0022a0006c0017t0032 | a0001c0001t0022g0025 a0001c0001t0022g0047 a0001c0001t0022g0048 others(1): Show |
4 | 390 | 0.0103 | 20 | c.*16 others(31): Show |
DTX4 | ENSG00000110042.8 | transcript | ENST00000227451.4 | protein_coding | 9/9 | 1622 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DUOX1_chr15_45124994_45170574 | 45142767 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01243.hp1 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0008t0003others(8): Show | a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0239 others(24): Show |
27 | 386 | 0.0700 | 20 | c.182 others(37): Show |
DUOX1 | ENSG00000137857.18 | transcript | ENST00000389037.7 | protein_coding | 15/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DUSP12_chr1_161744786_161762238 | 161746530 | T | TTTCCTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 HG02735.hp1 NA18984.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 3 | 446 | 0.0067 | 20 | c.-32 others(31): Show |
DUSP12 | ENSG00000081721.12 | transcript | ENST00000367943.5 | protein_coding | 3255 | chr1 | TogoVar | |||||||
DUSP12_chr1_161744786_161762238 | 161746586 | T | TTCCTTCC others(13): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 446 | 0.0022 | 20 | c.-32 others(31): Show |
DUSP12 | ENSG00000081721.12 | transcript | ENST00000367943.5 | protein_coding | 3199 | chr1 | TogoVar | |||||||
DUSP12_chr1_161744786_161762238 | 161746600 | C | CTCTCTCT others(13): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 NA18977.hp2 NA19006.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 3 | 446 | 0.0067 | 20 | c.-32 others(31): Show |
DUSP12 | ENSG00000081721.12 | transcript | ENST00000367943.5 | protein_coding | 3185 | chr1 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37509104 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 421 | 0.0024 | 20 | c.-18 others(39): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DUSP14_chr17_37484891_37518498 | 37509107 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 421 | 0.0024 | 20 | c.-18 others(39): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DUSP14_chr17_37484891_37518498 | 37511937 | A | AGTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00733.hp1 HG01243.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0147 others(6): Show |
9 | 421 | 0.0214 | 20 | c.-92 others(35): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
DUSP15_chr20_31856077_31875527 | 31873821 | G | GAAGGAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0101 | 1 | 378 | 0.0027 | 20 | c.-34 others(31): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 3295 | chr20 | TogoVar | |||||||
DUSP16_chr12_12468282_12567863 | 12560946 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02647.hp2 HG02886.hp1 others(9): Show |
a0002a0004 | a0002c0002a0002c0003a0004c0006 | a0002c0002t0003a0002c0003t0004a0004c0006t0041others(1): Show | a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0003g0018 others(9): Show |
12 | 352 | 0.0341 | 20 | c.-36 others(39): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
DUSP18_chr22_30656445_30672875 | 30669675 | C | CATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 448 | 0.0022 | 20 | c.-22 others(31): Show |
DUSP18 | ENSG00000167065.14 | transcript | ENST00000334679.4 | protein_coding | 1801 | chr22 | TogoVar | |||||||
DUSP1_chr5_172763096_172776195 | 172768184 | T | TTTCAGGT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0022 | 1 | 462 | 0.0022 | 20 | c.*55 others(29): Show |
DUSP1 | ENSG00000120129.6 | transcript | ENST00000239223.4 | protein_coding | 4/4 | 577 | chr5 | TogoVar | ||||||
DUSP26_chr8_33586330_33605023 | 33587510 | C | CTTCTTTC others(13): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 420 | 0.0024 | 20 | c.*45 others(31): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 3819 | chr8 | TogoVar | |||||||
DUSP26_chr8_33586330_33605023 | 33587567 | T | TTCTTTCT others(13): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG03579.hp2 NA18962.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0089 a0001c0001t0002g0002 a0001c0002t0003g0059 |
3 | 420 | 0.0071 | 20 | c.*44 others(31): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 3762 | chr8 | TogoVar | |||||||
DUSP26_chr8_33586330_33605023 | 33597882 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(86): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0035 others(28): Show |
89 | 420 | 0.2119 | 20 | c.-76 others(35): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
DUSP26_chr8_33586330_33605023 | 33597882 | T | TATACACA others(13): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 420 | 0.0024 | 20 | c.-76 others(35): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
DUSP8_chr11_1549051_1577271 | 1574304 | A | AGGGCCTG others(13): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0142 | 1 | 367 | 0.0027 | 20 | c.-25 others(31): Show |
DUSP8 | ENSG00000184545.11 | transcript | ENST00000397374.8 | protein_coding | 2034 | chr11 | TogoVar | |||||||
DUT_chr15_48326429_48348373 | 48346963 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 388 | 0.0026 | 20 | c.*48 others(31): Show |
DUT | ENSG00000128951.14 | transcript | ENST00000331200.8 | protein_coding | 3591 | chr15 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57155646 | A | AAGATAGA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(147): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0023 others(134): Show |
150 | 446 | 0.3363 | 20 | c.439 others(35): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57161324 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 446 | 0.0022 | 20 | c.26- others(33): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57171925 | G | GGGGGGCG others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01346.hp2 HG04204.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0002g0086 others(2): Show |
5 | 446 | 0.0112 | 20 | c.-44 others(31): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4441 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57171942 | G | GTCCGGGG others(13): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0069 |
2 | 446 | 0.0045 | 20 | c.-45 others(31): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4458 | chr19 | TogoVar | |||||||
DVL2_chr17_7220342_7239517 | 7233087 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01884.hp1 others(30): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(1): Show | a0001c0002t0001g0005 a0001c0002t0001g0022 a0001c0002t0001g0138 others(7): Show |
33 | 406 | 0.0813 | 20 | c.194 others(35): Show |
DVL2 | ENSG00000004975.12 | transcript | ENST00000005340.10 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
DYDC1_chr10_80331105_80361755 | 80346444 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 366 | 0.0027 | 20 | c.250 others(37): Show |
DYDC1 | ENSG00000170788.14 | transcript | ENST00000372202.6 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49080150 | C | CGGGGGGG others(13): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 290 | 0.0035 | 20 | c.202 others(41): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49145108 | C | CACATATA others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG01256.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0017 | a0001c0001t0002g0287 a0001c0001t0004g0123 a0001c0001t0004g0138 others(2): Show |
5 | 290 | 0.0172 | 20 | c.172 others(41): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 15/17 | chr18 | TogoVar |