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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DENND6B_chr22_50304030_50332012 | 50317020 | C | CAGGATGG others(39): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0007 | a0003c0007t0007 | a0003c0007t0007g0024 | 1 | 72 | 0.0139 | 46 | c.453 others(61): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 5/19 | chr22 | TogoVar | |||||||
DENR_chr12_122747824_122776064 | 122769309 | C | CATATATG others(39): Show |
3_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0041 | a0001c0001t0012g0074 a0001c0001t0012g0075 a0001c0001t0041g0028 |
3 | 27 | 0.1111 | 46 | c.*23 others(55): Show |
DENR | ENSG00000139726.11 | transcript | ENST00000280557.11 | protein_coding | 8/8 | 236 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DESI1_chr22_41593028_41626043 | 41594335 | G | GGGTGGGG others(39): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 194 | 0.0052 | 46 | c.*67 others(57): Show |
DESI1 | ENSG00000100418.8 | transcript | ENST00000263256.7 | protein_coding | 3692 | chr22 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(39): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 35 | 0.0286 | 46 | c.-28 others(57): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(39): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 35 | 0.0286 | 46 | c.-28 others(57): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(39): Show |
upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 35 | 0.0286 | 46 | c.-28 others(57): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(39): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 35 | 0.0286 | 46 | c.-28 others(57): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DHODH_chr16_72003744_72032659 | 72028039 | T | TCTCAACT others(39): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013 | 1 | 412 | 0.0024 | 46 | c.*38 others(57): Show |
DHODH | ENSG00000102967.12 | transcript | ENST00000219240.9 | protein_coding | 381 | chr16 | TogoVar | |||||||
DHX40_chr17_59560610_59613345 | 59570062 | T | TTATATTA others(39): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 | 1 | 155 | 0.0065 | 46 | c.281 others(61): Show |
DHX40 | ENSG00000108406.10 | transcript | ENST00000251241.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DIAPH1_chr5_141510021_141624000 | 141591712 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01099.hp2 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0042 others(4): Show |
7 | 297 | 0.0236 | 46 | c.118 others(63): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 1/27 | chr5 | TogoVar | |||||||
DIAPH2_chrX_96679842_97609997 | 96939668 | A | ATTTTTTT others(39): Show |
intron_variant | MODIFIER | NA18953.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0024 a0001c0001t0011g0039 |
2 | 105 | 0.0190 | 46 | c.132 others(63): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 371673 | G | GCAGAGCA others(39): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG02027.hp2 others(10): Show |
a0001 | a0001c0003a0001c0004a0001c0009others(2): Show | a0001c0003t0002a0001c0004t0003a0001c0009t0001others(3): Show | a0001c0003t0002g0021 a0001c0003t0002g0049 a0001c0003t0002g0050 others(10): Show |
13 | 87 | 0.1494 | 46 | c.199 others(65): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 17/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 541120 | G | GGGGAGCC others(39): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | 46 | c.86- others(63): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 587675 | G | GGAAACCC others(39): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 88 | 0.0114 | 46 | c.86- others(65): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 608203 | C | CACACACA others(39): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 85 | 0.0118 | 46 | c.85+ others(63): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 608584 | C | CACACACA others(39): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 12 | 0.0833 | 46 | c.85+ others(63): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92846811 | A | ATGTGTGT others(39): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0003 | a0003c0009 | a0003c0009t0004 | a0003c0009t0004g0200 | 1 | 188 | 0.0053 | 46 | c.474 others(61): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92846819 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 187 | 0.0053 | 46 | c.474 others(61): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0150 | 1 | 11 | 0.0909 | 46 | c.558 others(61): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 11 | 0.0909 | 46 | c.558 others(61): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231907088 | T | TTTCCTCC others(39): Show |
intron_variant | MODIFIER | HG02273.hp1 HG02647.hp1 HG03130.hp1 others(1): Show |
a0001a0002a0003 | a0001c0012a0002c0004a0003c0002others(1): Show | a0001c0012t0017a0002c0004t0003a0003c0002t0005others(1): Show | a0001c0012t0017g0039 a0002c0004t0003g0026 a0003c0002t0005g0019 others(1): Show |
4 | 38 | 0.1053 | 46 | c.198 others(67): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP2_chr15_40353219_40383621 | 40374014 | A | AAAAAAAA others(39): Show |
3_prime_UTR_variant | MODIFIER | NA18982.hp2 NA19005.hp1 |
a0001 | a0001c0003 | a0001c0003t0049 | a0001c0003t0049g0003 a0001c0003t0049g0013 |
2 | 147 | 0.0136 | 46 | c.*36 others(57): Show |
DISP2 | ENSG00000140323.6 | transcript | ENST00000267889.5 | protein_coding | 8/8 | 3698 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DKK2_chr4_106916802_107041313 | 107032970 | A | AAACTATA others(39): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0207 a0001c0001t0002g0046 a0001c0001t0011g0087 others(2): Show |
5 | 216 | 0.0231 | 46 | c.222 others(63): Show |
DKK2 | ENSG00000155011.9 | transcript | ENST00000285311.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13219380 | T | TTACATTT others(39): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG03098.hp2 others(1): Show |
a0001a0002a0008 | a0001c0001a0001c0011a0002c0006others(1): Show | a0001c0001t0042a0001c0011t0003a0002c0006t0035others(1): Show | a0001c0001t0042g0042 a0001c0011t0003g0050 a0002c0006t0035g0016 others(1): Show |
4 | 80 | 0.0500 | 46 | c.134 others(67): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13506582 | T | TGTGTGTG others(39): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 HG03139.hp2 others(1): Show |
a0007a0019 | a0007c0016a0007c0031a0019c0028 | a0007c0016t0005a0007c0016t0021a0007c0031t0005others(1): Show | a0007c0016t0005g0004 a0007c0016t0021g0003 a0007c0031t0005g0005 others(1): Show |
4 | 208 | 0.0192 | 46 | c.-12 others(65): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 1/17 | chr8 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38053589 | G | GCCCGGCC others(39): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG01074.hp2 others(12): Show |
a0001a0011 | a0001c0004a0001c0013a0001c0018others(4): Show | a0001c0004t0001a0001c0004t0002a0001c0013t0001others(5): Show | a0001c0004t0001g0214 a0001c0004t0002g0206 a0001c0004t0002g0207 others(12): Show |
15 | 125 | 0.1200 | 46 | c.563 others(63): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38053589 | G | GCCCGGCC others(39): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00621.hp1 others(28): Show |
a0001a0002a0003others(7): Show | a0001c0026a0001c0031a0002c0001others(11): Show | a0001c0026t0002a0001c0031t0003a0002c0001t0001others(13): Show | a0001c0026t0002g0138 a0001c0031t0003g0029 a0002c0001t0001g0031 others(28): Show |
31 | 141 | 0.2199 | 46 | c.563 others(63): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38053589 | G | GCCCGGCC others(39): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(136): Show |
a0001a0002a0004others(11): Show | a0001c0002a0001c0003a0001c0014others(23): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0003others(27): Show | a0001c0002t0001g0006 a0001c0002t0001g0150 a0001c0002t0001g0151 others(133): Show |
139 | 249 | 0.5582 | 46 | c.563 others(63): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38053589 | G | GCCCGGCC others(39): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0289 | 1 | 111 | 0.0090 | 46 | c.563 others(63): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197070565 | A | ATTTTTTT others(39): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0288 | 1 | 93 | 0.0108 | 46 | c.200 others(65): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 18/24 | chr3 | TogoVar | |||||||
DLG4_chr17_7182187_7222627 | 7184629 | G | GTGTGTGT others(39): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0121 | a0001c0002t0121g0122 | 1 | 93 | 0.0108 | 46 | c.*60 others(57): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2557 | chr17 | TogoVar | |||||||
DLG5_chr10_77785791_77931755 | 77916904 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG02615.hp2 NA19067.hp2 |
a0001a0002 | a0001c0010a0002c0016 | a0001c0010t0001a0002c0016t0004 | a0001c0010t0001g0157 a0002c0016t0004g0117 |
2 | 63 | 0.0317 | 46 | c.304 others(63): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 1/31 | chr10 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3551176 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 80 | 0.0125 | 46 | c.205 others(67): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 9/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3600989 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0042a0001c0002t0030 | a0001c0001t0042g0080 a0001c0002t0030g0014 |
2 | 62 | 0.0323 | 46 | c.159 others(67): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3674824 | T | TCCACCAC others(39): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02258.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0044 a0001c0001t0002g0017 a0001c0001t0003g0068 others(14): Show |
17 | 80 | 0.2125 | 46 | c.159 others(67): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3674948 | C | CTATCAGT others(39): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02258.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0044 a0001c0001t0002g0017 a0001c0001t0003g0068 others(14): Show |
17 | 80 | 0.2125 | 46 | c.159 others(67): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1164340 | G | GCCCCCCA others(39): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0010 | a0001c0010t0025 | a0001c0010t0025g0012 | 1 | 29 | 0.0345 | 46 | c.74- others(63): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1227153 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 21 | 0.0476 | 46 | c.74- others(63): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1417628 | C | CCTCCAGG others(39): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0033 | 1 | 28 | 0.0357 | 46 | c.107 others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1417639 | G | GCACAGGG others(39): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0021 | 1 | 35 | 0.0286 | 46 | c.107 others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1417651 | C | CCACTCCT others(39): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0029 | 1 | 25 | 0.0400 | 46 | c.107 others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1417689 | A | AGGGGGCC others(39): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0019 | a0002c0001t0002g0032 a0002c0001t0019g0031 |
2 | 18 | 0.1111 | 46 | c.107 others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG01346.hp2 HG04228.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0202 a0001c0001t0001g0257 |
3 | 17 | 0.1765 | 46 | c.-51 others(61): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31293163 | G | GGTGTGTG others(39): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0008 | a0008c0011 | a0008c0011t0005 | a0008c0011t0005g0117 | 1 | 77 | 0.0130 | 46 | c.922 others(67): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31394938 | T | TGAGAGAG others(39): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0053 | a0001c0053t0001 | a0001c0053t0001g0096 | 1 | 41 | 0.0244 | 46 | c.908 others(67): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32252677 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19068.hp1 NA19070.hp1 |
a0006a0013a0035 | a0006c0030a0013c0048a0035c0027 | a0006c0030t0004a0013c0048t0001a0035c0027t0001 | a0006c0030t0004g0070 a0013c0048t0001g0066 a0035c0027t0001g0023 |
3 | 57 | 0.0526 | 46 | c.629 others(67): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32483164 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18994.hp1 |
a0001a0017 | a0001c0002a0017c0036 | a0001c0002t0001a0017c0036t0001 | a0001c0002t0001g0085 a0017c0036t0001g0049 |
2 | 57 | 0.0351 | 46 | c.280 others(65): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33008804 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03225.hp1 |
a0002a0003 | a0002c0051a0003c0010 | a0002c0051t0003a0003c0010t0007 | a0002c0051t0003g0091 a0003c0010t0007g0010 |
2 | 126 | 0.0159 | 46 | c.93+ others(63): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(39): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0045 | 1 | 149 | 0.0067 | 46 | c.-18 others(57): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123786681 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01099.hp1 others(39): Show |
a0002a0006a0008others(16): Show | a0002c0004a0002c0011a0002c0029others(22): Show | a0002c0004t0002a0002c0011t0001a0002c0029t0001others(22): Show | a0002c0004t0002g0036 a0002c0004t0002g0046 a0002c0004t0002g0047 others(39): Show |
42 | 113 | 0.3717 | 46 | c.142 others(63): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 9/78 | chr12 | TogoVar |