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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOX2_chr3_58500136_58542190 | 58537267 | A | AGCTCTCA others(11): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG04228.hp1 HG06807.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0003c0010t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0158 others(1): Show |
6 | 281 | 0.0214 | 18 | c.-24 others(27): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 78 | chr3 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58541624 | C | CTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01346.hp1 HG01433.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0033 others(7): Show |
10 | 35 | 0.2857 | 18 | c.-45 others(29): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 4435 | chr3 | TogoVar | |||||||
ACOX3_chr4_8361282_8445723 | 8391031 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00673.hp2 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0178 a0001c0001t0001g0216 a0001c0001t0002g0128 others(15): Show |
18 | 121 | 0.1488 | 18 | c.130 others(37): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 11/17 | chr4 | TogoVar | |||||||
ACOX3_chr4_8361282_8445723 | 8395665 | C | CCTTGGTG others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03516.hp2 NA19240.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0003 | a0001c0003t0001g0365 a0001c0003t0001g0366 a0001c0006t0003g0267 |
3 | 378 | 0.0079 | 18 | c.105 others(35): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 9/17 | chr4 | TogoVar | |||||||
ACOXL_chr2_110727573_111123548 | 110768492 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 139 | 0.0072 | 18 | c.75+ others(29): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110768513 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0149 | 1 | 105 | 0.0095 | 18 | c.75+ others(29): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110811730 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054 a0001c0001t0002g0104 |
2 | 18 | 0.1111 | 18 | c.753 others(35): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110846636 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18974.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0079 a0002c0002t0001g0051 |
2 | 138 | 0.0145 | 18 | c.788 others(35): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110846641 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01981.hp1 HG02109.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0017others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0138 a0001c0001t0002g0075 a0001c0001t0002g0077 others(7): Show |
10 | 32 | 0.3125 | 18 | c.788 others(35): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110846641 | G | GCGCACAC others(11): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 | 1 | 23 | 0.0435 | 18 | c.788 others(35): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110988857 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0025 | 1 | 16 | 0.0625 | 18 | c.116 others(37): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111003550 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0076 |
2 | 18 | 0.1111 | 18 | c.128 others(37): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111096224 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0124 | 1 | 61 | 0.0164 | 18 | c.154 others(37): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111120979 | T | TGCCGCTG others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0002a0001c0015t0002 | a0001c0001t0002g0048 a0001c0015t0002g0072 |
2 | 17 | 0.1176 | 18 | c.*31 others(29): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 2432 | chr2 | TogoVar | |||||||
ACP2_chr11_47234302_47253814 | 47245857 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01243.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0020 others(6): Show |
21 | 146 | 0.1438 | 18 | c.298 others(31): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
ACP2_chr11_47234302_47253814 | 47253134 | C | CGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02257.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0059 others(2): Show |
10 | 169 | 0.0592 | 18 | c.-43 others(29): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 4321 | chr11 | TogoVar | |||||||
ACP3_chr3_132312407_132363841 | 132325595 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01358.hp1 HG01496.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(6): Show | a0001c0001t0001g0032 a0001c0001t0001g0247 a0001c0001t0001g0248 others(17): Show |
22 | 155 | 0.1419 | 18 | c.121 others(35): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACP3_chr3_132312407_132363841 | 132347844 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG01934.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0011 | a0001c0002t0003g0039 a0001c0002t0003g0055 a0001c0002t0004g0047 others(7): Show |
10 | 151 | 0.0662 | 18 | c.782 others(35): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACP5_chr19_11569660_11582645 | 11576006 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02523.hp2 NA18952.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0017 | a0001c0001t0001a0006c0017t0001 | a0001c0001t0001g0011 a0006c0017t0001g0075 |
8 | 225 | 0.0356 | 18 | c.735 others(33): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ACP7_chr19_39079368_39116493 | 39093142 | T | TGCTTTCT others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(13): Show |
a0001 | a0001c0005a0001c0006a0001c0008others(1): Show | a0001c0005t0010a0001c0006t0008a0001c0006t0009others(2): Show | a0001c0005t0010g0193 a0001c0006t0008g0006 a0001c0006t0008g0032 others(11): Show |
16 | 400 | 0.0400 | 18 | c.122 others(35): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | chr19 | TogoVar | |||||||
ACP7_chr19_39079368_39116493 | 39102767 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02074.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0006a0001c0003t0006a0001c0004t0004others(2): Show | a0001c0001t0006g0101 a0001c0003t0006g0333 a0001c0004t0004g0046 others(7): Show |
10 | 338 | 0.0296 | 18 | c.111 others(37): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACRV1_chr11_125666522_125685847 | 125678978 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01975.hp1 HG01975.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0084 a0001c0001t0002g0001 others(5): Show |
12 | 71 | 0.1690 | 18 | c.53- others(31): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ACRV1_chr11_125666522_125685847 | 125678997 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 424 | 0.0024 | 18 | c.53- others(31): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78215727 | A | AAAGAAAG others(11): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0298 | 1 | 326 | 0.0031 | 18 | c.132 others(35): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78235958 | A | AACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0191 | 1 | 17 | 0.0588 | 18 | c.-14 others(29): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1394 | chr15 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03098.hp1 HG03139.hp1 |
a0006a0015 | a0006c0006a0015c0021 | a0006c0006t0001a0015c0021t0001 | a0006c0006t0001g0025 a0006c0006t0001g0026 a0015c0021t0001g0101 |
3 | 39 | 0.0769 | 18 | c.738 others(33): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02895.hp2 HG03209.hp1 |
a0004a0008a0013 | a0004c0003a0008c0009a0013c0016 | a0004c0003t0002a0008c0009t0002a0013c0016t0001 | a0004c0003t0002g0138 a0008c0009t0002g0164 a0013c0016t0001g0014 |
3 | 39 | 0.0769 | 18 | c.738 others(33): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6184856 | A | AAAACAAA others(11): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0133 | 1 | 254 | 0.0039 | 18 | c.132 others(35): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSF2_chr17_50421218_50479837 | 50461951 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0263 a0002c0008t0001g0264 |
2 | 315 | 0.0063 | 18 | c.508 others(33): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112423205 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 357 | 0.0028 | 18 | c.159 others(35): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02040.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0149 a0001c0003t0001g0180 |
2 | 171 | 0.0117 | 18 | c.612 others(33): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20431945 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01978.hp1 others(16): Show |
a0003a0006 | a0003c0003a0006c0005 | a0003c0003t0003a0006c0005t0009 | a0003c0003t0003g0002 a0003c0003t0003g0035 a0003c0003t0003g0079 others(11): Show |
19 | 390 | 0.0487 | 18 | c.130 others(35): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34899423 | T | TCTTTCTT others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0276 a0001c0002t0002g0015 |
2 | 158 | 0.0127 | 18 | c.375 others(37): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | chr20 | TogoVar | |||||||
ACSS2_chr20_34871612_34932959 | 34899423 | T | TTTCTCTT others(11): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02145.hp2 HG02273.hp2 others(6): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0008c0012t0001 | a0001c0001t0001g0010 a0001c0001t0001g0150 a0001c0001t0001g0165 others(6): Show |
9 | 165 | 0.0545 | 18 | c.375 others(37): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34899423 | T | TTTCTTTC others(11): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0146 | 1 | 157 | 0.0064 | 18 | c.375 others(37): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34899423 | T | TTTCTTTC others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0019 | 1 | 157 | 0.0064 | 18 | c.375 others(37): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81098129 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0041 | 1 | 258 | 0.0039 | 18 | c.312 others(37): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81121915 | A | ATATTATT others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0013 | a0001c0013t0018 | a0001c0013t0018g0290 | 1 | 154 | 0.0065 | 18 | c.456 others(37): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTCTCTTT others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0160 a0001c0001t0008g0086 |
2 | 61 | 0.0328 | 18 | c.135 others(37): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTCTTCTT others(11): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 60 | 0.0167 | 18 | c.135 others(37): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0205 a0001c0001t0028g0038 |
2 | 61 | 0.0328 | 18 | c.135 others(37): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88932032 | G | GATTATTA others(11): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02145.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(6): Show |
15 | 172 | 0.0872 | 18 | c.*31 others(29): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 3041 | chr10 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73904777 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0387 a0001c0001t0005g0388 |
2 | 260 | 0.0077 | 18 | c.255 others(35): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179579455 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA18998.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0059 |
2 | 47 | 0.0426 | 18 | c.769 others(35): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6B_chr7_100638097_100661448 | 100656640 | A | AGGAAAGC others(11): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0087 a0001c0001t0001g0088 |
4 | 299 | 0.0134 | 18 | c.-28 others(27): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 193 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100656640 | A | AGGAGAGC others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00609.hp1 others(56): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(39): Show |
59 | 354 | 0.1667 | 18 | c.-28 others(27): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 193 | chr7 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17800583 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02818.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0001 | a0001c0003t0001g0014 a0001c0003t0001g0189 a0001c0008t0001g0109 others(1): Show |
4 | 130 | 0.0308 | 18 | c.-24 others(37): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17802424 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 214 | 0.0047 | 18 | c.-24 others(37): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8694853 | A | AAGAGAGA others(11): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG02004.hp2 HG02280.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 others(1): Show |
9 | 60 | 0.1500 | 18 | c.*25 others(29): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236709220 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0134 | 1 | 192 | 0.0052 | 18 | c.127 others(35): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |