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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA8_chr17_68862289_68960392 | 68935540 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01978.hp1 HG02165.hp2 others(4): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0003a0004c0007others(3): Show | a0001c0001t0001a0001c0003t0001a0004c0007t0001others(3): Show | a0001c0001t0001g0043 a0001c0003t0001g0059 a0001c0003t0001g0062 others(4): Show |
7 | 97 | 0.0722 | 22 | c.466 others(39): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 169 | 0.0059 | 22 | c.-5- others(37): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0110 | 1 | 169 | 0.0059 | 22 | c.-5- others(37): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229535038 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0012 | 1 | 90 | 0.0111 | 22 | c.134 others(41): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975438 | T | TATAAATA others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0066 | a0001c0066t0004 | a0001c0066t0004g0280 | 1 | 293 | 0.0034 | 22 | c.130 others(41): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975476 | T | TATAAATA others(15): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01169.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0147 a0001c0002t0003g0139 a0001c0002t0003g0146 others(1): Show |
4 | 231 | 0.0173 | 22 | c.130 others(41): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975544 | T | TATAAATA others(15): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00741.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0017others(3): Show | a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 others(11): Show |
14 | 173 | 0.0809 | 22 | c.130 others(41): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169024500 | T | TTATTAAT others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(104): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(35): Show | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(102): Show |
107 | 304 | 0.3520 | 22 | c.-27 others(39): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87589805 | G | GGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03098.hp2 |
a0001a0013 | a0001c0001a0013c0026 | a0001c0001t0005a0013c0026t0014 | a0001c0001t0005g0034 a0013c0026t0014g0010 |
2 | 202 | 0.0099 | 22 | c.118 others(39): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20711776 | T | TTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18986.hp1 |
a0008a0017 | a0008c0009a0017c0040 | a0008c0009t0001a0017c0040t0001 | a0008c0009t0001g0190 a0017c0040t0001g0304 |
2 | 172 | 0.0116 | 22 | c.242 others(41): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20711776 | T | TTCTCTCT others(15): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18970.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0148 a0003c0002t0001g0194 |
2 | 172 | 0.0116 | 22 | c.242 others(41): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 a0001c0001t0002g0095 |
2 | 23 | 0.0870 | 22 | c.334 others(39): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75122861 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA18955.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0167 |
2 | 11 | 0.1818 | 22 | c.169 others(39): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75153760 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0216 | 1 | 18 | 0.0556 | 22 | c.168 others(39): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTGTGTAT others(15): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0015 | 1 | 103 | 0.0097 | 22 | c.-50 others(33): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTGTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG03098.hp1 others(3): Show |
a0001a0004a0010 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0006a0001c0001t0012a0001c0003t0005others(3): Show | a0001c0001t0006g0045 a0001c0001t0012g0044 a0001c0003t0005g0046 others(3): Show |
6 | 108 | 0.0556 | 22 | c.-50 others(33): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTGTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0022 | a0001c0022t0009 | a0001c0022t0009g0006 | 1 | 103 | 0.0097 | 22 | c.-50 others(33): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTGTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG03540.hp1 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0006a0001c0012t0002 | a0001c0002t0006g0183 a0001c0012t0002g0155 |
2 | 104 | 0.0192 | 22 | c.-50 others(33): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTTTCTTT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0010a0001c0020t0002 | a0001c0001t0010g0087 a0001c0020t0002g0193 |
2 | 105 | 0.0190 | 22 | c.49- others(37): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16124335 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0003g0141 a0001c0001t0006g0166 a0001c0001t0006g0171 others(24): Show |
27 | 173 | 0.1561 | 22 | c.359 others(39): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16143530 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00738.hp1 others(8): Show |
a0001 | a0001c0004a0001c0006a0001c0013others(3): Show | a0001c0004t0002a0001c0006t0002a0001c0013t0002others(3): Show | a0001c0004t0002g0136 a0001c0004t0002g0198 a0001c0004t0002g0209 others(8): Show |
11 | 58 | 0.1897 | 22 | c.*22 others(33): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 478 | chr16 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778451 | G | GAGAGAGA others(15): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 330 | 0.0030 | 22 | c.-43 others(33): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4188 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778455 | G | GAGAGAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00673.hp2 others(2): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0007t0003 | a0001c0002t0002g0057 a0001c0002t0002g0078 a0001c0002t0002g0092 others(2): Show |
5 | 228 | 0.0219 | 22 | c.-43 others(33): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4184 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99814678 | C | CATATATG others(15): Show |
intron_variant | MODIFIER | HG00423.hp2 NA19088.hp2 |
a0001a0012 | a0001c0001a0012c0022 | a0001c0001t0001a0012c0022t0001 | a0001c0001t0001g0304 a0012c0022t0001g0268 |
2 | 334 | 0.0060 | 22 | c.209 others(41): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673462 | T | TCCCCAGA others(15): Show |
frameshift_variant | HIGH | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 340 | 0.0029 | 22 | c.241 others(33): Show |
p.His others(5): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/31 | 2483/5693 | 2427/4584 | 809/1527 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ABCC3_chr17_50629881_50697253 | 50673962 | T | TTCTTTCT others(15): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 327 | 0.0031 | 22 | c.259 others(39): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673962 | T | TTCTTTCT others(15): Show |
intron_variant | MODIFIER | NA18955.hp1 NA19060.hp2 |
a0001a0021 | a0001c0001a0021c0021 | a0001c0001t0001a0021c0021t0001 | a0001c0001t0001g0037 a0021c0021t0001g0068 |
2 | 328 | 0.0061 | 22 | c.259 others(39): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673966 | T | TTCTTTCT others(15): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 337 | 0.0030 | 22 | c.259 others(39): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673980 | C | CCTTCCTT others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 HG04184.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0190 a0001c0017t0001g0234 |
2 | 249 | 0.0080 | 22 | c.259 others(39): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | |||||||
ABCC3_chr17_50629881_50697253 | 50673998 | C | CTTTCTTT others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0317 | 1 | 268 | 0.0037 | 22 | c.259 others(39): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95086087 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 42 | 0.0238 | 22 | c.253 others(41): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 20/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95144255 | C | CATAAAAT others(15): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 182 | 0.0055 | 22 | c.245 others(43): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95144255 | C | CATAAAAT others(15): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00639.hp1 others(59): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(38): Show | a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0192 others(59): Show |
62 | 243 | 0.2551 | 22 | c.245 others(43): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95244596 | T | TGAAAGAA others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0012a0001c0024a0002c0004others(4): Show | a0001c0012t0006a0001c0024t0001a0002c0004t0002others(4): Show | a0001c0012t0006g0056 a0001c0024t0001g0101 a0002c0004t0002g0051 others(4): Show |
7 | 191 | 0.0366 | 22 | c.306 others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95247918 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0009a0001c0021a0001c0025others(3): Show | a0001c0009t0001a0001c0021t0013a0001c0025t0002others(3): Show | a0001c0009t0001g0046 a0001c0021t0013g0017 a0001c0025t0002g0075 others(3): Show |
6 | 49 | 0.1224 | 22 | c.75- others(35): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16171923 | G | GATGGATA others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02055.hp1 NA19240.hp2 |
a0005a0024a0044 | a0005c0048a0024c0075a0044c0044 | a0005c0048t0001a0024c0075t0001a0044c0044t0001 | a0005c0048t0001g0063 a0024c0075t0001g0049 a0044c0044t0001g0302 |
3 | 353 | 0.0085 | 22 | c.278 others(41): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0103 | 1 | 38 | 0.0263 | 22 | c.816 others(37): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19006.hp1 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0064 |
2 | 39 | 0.0513 | 22 | c.816 others(37): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATTT others(15): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 38 | 0.0263 | 22 | c.816 others(37): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCF3_chr3_184181199_184199005 | 184191739 | G | GTTCCTTT others(15): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 4 | 324 | 0.0123 | 22 | c.156 others(39): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42267437 | G | GTGGTCCG others(15): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02818.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0002a0001c0002t0004 | a0001c0001t0009g0275 a0001c0002t0002g0080 a0001c0002t0004g0274 |
3 | 352 | 0.0085 | 22 | c.287 others(39): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42268388 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 261 | 0.0038 | 22 | c.287 others(39): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115232 | G | GTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG01891.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0005t0001others(1): Show | a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0089 others(23): Show |
26 | 238 | 0.1092 | 22 | c.842 others(37): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG01069.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0114 |
2 | 169 | 0.0118 | 22 | c.842 others(37): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01361.hp1 HG01978.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0002others(2): Show | a0001c0001t0003a0001c0001t0016a0001c0001t0054others(5): Show | a0001c0001t0003g0071 a0001c0001t0016g0106 a0001c0001t0054g0135 others(5): Show |
8 | 125 | 0.0640 | 22 | c.*92 others(33): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870949 | A | AAGAAAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 HG03710.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0121 a0002c0002t0002g0276 |
2 | 367 | 0.0054 | 22 | c.-12 others(33): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1103 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870953 | A | AAGAAAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0293 | 1 | 364 | 0.0027 | 22 | c.-12 others(33): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1099 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870991 | A | AAGAAAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 NA19000.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0265 a0002c0004t0002g0270 |
2 | 317 | 0.0063 | 22 | c.-11 others(33): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1061 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25387589 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0280 | 1 | 137 | 0.0073 | 22 | c.191 others(39): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 28 | 0.0357 | 22 | c.590 others(39): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |