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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNC2I2_chr9_128628653_128661847 | 128655335 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02273.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0027 a0001c0001t0001g0179 a0001c0001t0001g0180 others(3): Show |
7 | 26 | 0.2692 | 19 | c.186 others(36): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
DYNC2LI1_chr2_43769039_43815010 | 43775854 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0159 | 1 | 34 | 0.0294 | 19 | c.9-9 others(30): Show |
DYNC2LI1 | ENSG00000138036.18 | transcript | ENST00000260605.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(12): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 185 | 0.0054 | 19 | c.*75 others(28): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636070 | T | TATATATA others(12): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 327 | 0.0061 | 19 | c.*75 others(28): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 403 | chr6 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37417506 | C | CTTTTTCT others(12): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0142 | a0001c0001t0142g0324 | 1 | 272 | 0.0037 | 19 | c.-76 others(36): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37417529 | C | CTTTTTCT others(12): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01256.hp1 HG01258.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(8): Show | a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0185 others(14): Show |
18 | 142 | 0.1268 | 19 | c.-76 others(36): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37440130 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG01192.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0027others(5): Show | a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0006g0006 others(6): Show |
9 | 74 | 0.1216 | 19 | c.10+ others(36): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37501166 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0020 | 1 | 234 | 0.0043 | 19 | c.121 others(38): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37519736 | G | GTTTTTTT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0087 | a0001c0001t0058g0313 a0001c0001t0087g0312 |
2 | 167 | 0.0120 | 19 | c.*72 others(30): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 12/12 | 7214 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1B_chr19_39820350_39839162 | 39828922 | T | TAAAGTAA others(12): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 370 | 0.0027 | 19 | c.521 others(34): Show |
DYRK1B | ENSG00000105204.14 | transcript | ENST00000323039.10 | protein_coding | 5/10 | chr19 | TogoVar | |||||||
DYRK2_chr12_67643745_67670406 | 67648689 | G | GGCGGCGG others(12): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0056 | a0001c0003t0056g0047 | 1 | 388 | 0.0026 | 19 | c.-44 others(28): Show |
DYRK2 | ENSG00000127334.11 | transcript | ENST00000344096.4 | protein_coding | 55 | chr12 | TogoVar | |||||||
DYRK3_chr1_206630536_206660158 | 206636296 | T | TACACCTA others(12): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02965.hp2 HG03486.hp1 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0038 a0002c0002t0009g0039 a0002c0002t0009g0040 |
3 | 394 | 0.0076 | 19 | c.77+ others(32): Show |
DYRK3 | ENSG00000143479.18 | transcript | ENST00000367109.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71572115 | C | CATACCTA others(12): Show |
intron_variant | MODIFIER | HG01099.hp1 NA21309.hp1 |
a0002a0003 | a0002c0023a0003c0082 | a0002c0023t0001a0003c0082t0003 | a0002c0023t0001g0073 a0003c0082t0003g0185 |
2 | 190 | 0.0105 | 19 | c.317 others(38): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 29/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71617879 | G | GGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(49): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0004others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(31): Show | a0001c0001t0001g0192 a0001c0001t0003g0099 a0001c0002t0001g0040 others(49): Show |
52 | 120 | 0.4333 | 19 | c.441 others(38): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71572115 | C | CATACCTA others(12): Show |
intron_variant | MODIFIER | HG01099.hp1 NA21309.hp1 |
a0002a0003 | a0002c0023a0003c0088 | a0002c0023t0001a0003c0088t0006 | a0002c0023t0001g0124 a0003c0088t0006g0192 |
2 | 206 | 0.0097 | 19 | c.322 others(38): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71617879 | G | GGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(52): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0004others(30): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(36): Show | a0001c0001t0001g0135 a0001c0001t0001g0203 a0001c0001t0003g0059 others(52): Show |
55 | 129 | 0.4264 | 19 | c.446 others(38): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108622835 | A | AGTCTCTC others(12): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 316 | 0.0032 | 19 | c.376 others(36): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108697439 | T | TAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0117 | 1 | 19 | 0.0526 | 19 | c.*40 others(30): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 2600 | chr3 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468851 | A | AATTATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01975.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0063 others(1): Show |
4 | 307 | 0.0130 | 19 | c.-29 others(30): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2691 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG03491.hp1 NA18979.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0027 others(1): Show |
4 | 120 | 0.0333 | 19 | c.-29 others(30): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | NA18953.hp2 NA19057.hp1 NA19060.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0026 a0001c0001t0002g0042 others(2): Show |
5 | 121 | 0.0413 | 19 | c.-29 others(30): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01952.hp1 NA18951.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0026 others(5): Show |
10 | 126 | 0.0794 | 19 | c.-29 others(30): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01256.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0191 a0001c0001t0002g0002 a0001c0001t0002g0003 others(12): Show |
21 | 137 | 0.1533 | 19 | c.-29 others(30): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAT others(12): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0145 a0001c0001t0011g0041 |
2 | 118 | 0.0169 | 19 | c.-29 others(30): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
E2F8_chr11_19219063_19245945 | 19223035 | G | GAAGGCAG others(12): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0007 | a0007c0016 | a0007c0016t0004 | a0007c0016t0004g0152 | 1 | 436 | 0.0023 | 19 | c.*16 others(30): Show |
E2F8 | ENSG00000129173.13 | transcript | ENST00000250024.9 | protein_coding | 1027 | chr11 | TogoVar | |||||||
EAF2_chr3_121830209_121891526 | 121840515 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0188 |
2 | 227 | 0.0088 | 19 | c.107 others(36): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EBAG9_chr8_109535173_109570996 | 109538047 | A | ATTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0036 others(1): Show |
5 | 136 | 0.0368 | 19 | c.-24 others(30): Show |
EBAG9 | ENSG00000147654.16 | transcript | ENST00000337573.10 | protein_coding | 2125 | chr8 | TogoVar | |||||||
EBF3_chr10_129830233_129969274 | 129831278 | G | GCCTCCCA others(12): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(291): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(291): Show |
294 | 334 | 0.8802 | 19 | c.*66 others(30): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 3954 | chr10 | TogoVar | |||||||
EBF3_chr10_129830233_129969274 | 129831294 | C | CCTCCCTC others(12): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0188 | 1 | 336 | 0.0030 | 19 | c.*66 others(30): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 3938 | chr10 | TogoVar | |||||||
EBF3_chr10_129830233_129969274 | 129917651 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0190 a0001c0001t0004g0193 a0001c0001t0007g0129 |
3 | 51 | 0.0588 | 19 | c.554 others(38): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | |||||||
EBI3_chr19_4224523_4242528 | 4236518 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 6 | 0.1667 | 19 | c.538 others(34): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EBNA1BP2_chr1_43159184_43177290 | 43163613 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 180 | 0.0056 | 19 | c.*82 others(28): Show |
EBNA1BP2 | ENSG00000117395.13 | transcript | ENST00000236051.3 | protein_coding | 570 | chr1 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92532015 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19011.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020 a0001c0002t0002g0147 |
2 | 250 | 0.0080 | 19 | c.-28 others(36): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92533328 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 152 | 0.0066 | 19 | c.-28 others(36): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92533328 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 153 | 0.0131 | 19 | c.-28 others(36): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92535136 | T | TAGATACT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00639.hp2 others(62): Show |
a0001a0008 | a0001c0002a0001c0008a0001c0009others(2): Show | a0001c0002t0002a0001c0002t0004a0001c0008t0002others(3): Show | a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0011 others(39): Show |
65 | 398 | 0.1633 | 19 | c.-28 others(34): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECPAS_chr9_111355685_111489383 | 111407428 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 1 | 325 | 0.0031 | 19 | c.265 others(38): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 24/49 | chr9 | TogoVar | |||||||
ECRG4_chr2_106060688_106083155 | 106067059 | C | CGGGGCGG others(12): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 125 | 0.0080 | 19 | c.79+ others(34): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ECRG4_chr2_106060688_106083155 | 106071322 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02717.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0154 others(1): Show |
4 | 36 | 0.1111 | 19 | c.80- others(32): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ECSIT_chr19_11500929_11534134 | 11508383 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 213 | 0.0047 | 19 | c.739 others(34): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 4/7 | chr19 | TogoVar | |||||||
ECT2L_chr6_138791087_138909070 | 138907313 | A | AAGTGTGT others(12): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG02572.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0160 a0001c0001t0003g0014 a0001c0001t0008g0046 |
3 | 69 | 0.0435 | 19 | c.*46 others(30): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 3244 | chr6 | TogoVar | |||||||
EDARADD_chr1_236389286_236489930 | 236445234 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0096 others(37): Show |
40 | 156 | 0.2564 | 19 | c.219 others(38): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236447224 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG01496.hp1 NA18989.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0003 | a0001c0001t0004g0167 a0002c0002t0003g0252 |
2 | 254 | 0.0079 | 19 | c.219 others(38): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
EDAR_chr2_108889471_108994220 | 108909442 | T | TGAATCAT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(207): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(30): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(193): Show |
210 | 224 | 0.9375 | 19 | c.803 others(35): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 9/11 | chr2 | TogoVar | |||||||
EDAR_chr2_108889471_108994220 | 108932528 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0052 | 1 | 163 | 0.0061 | 19 | c.-18 others(36): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
EDAR_chr2_108889471_108994220 | 108958817 | C | CTTGGAAG others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(104): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(19): Show | a0001c0001t0001g0039 a0001c0001t0001g0167 a0001c0001t0001g0175 others(95): Show |
107 | 224 | 0.4777 | 19 | c.-18 others(38): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
EDDM13_chr19_56267748_56315454 | 56292451 | G | GTTTTTAC others(12): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0321 | 1 | 325 | 0.0031 | 19 | c.232 others(36): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EDDM13_chr19_56267748_56315454 | 56292458 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 392 | 0.0026 | 19 | c.232 others(36): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EDEM3_chr1_184685237_184759858 | 184720509 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0267 | 1 | 187 | 0.0053 | 19 | c.951 others(34): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 9/19 | chr1 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84080298 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0090 | 1 | 47 | 0.0213 | 19 | c.652 others(38): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 6/10 | chr5 | TogoVar |