regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 68935262 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03490.hp2 |
a0001a0007 | a0001c0005a0007c0010 | a0001c0005t0001a0007c0010t0001 | a0001c0005t0001g0143a0007c0010t0001g0123 | 2 | 274 | 0.0073 | 22 | c.466 others(39): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68935540 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01978.hp1 HG02165.hp2 others(4): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0003a0003c0007others(3): Show | a0001c0001t0001a0001c0003t0001a0003c0007t0001others(3): Show | a0001c0001t0001g0042a0001c0003t0001g0060a0001c0003t0001g0061others(4): Show | 7 | 274 | 0.0256 | 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 | a0001c0001t0001g0003 | 1 | 274 | 0.0037 | 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 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0104 | 1 | 274 | 0.0037 | 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 | 284 | 0.0035 | 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 | a0001c0066t0004g0279 | 1 | 306 | 0.0033 | 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 | a0001c0001t0001g0170a0001c0002t0003g0127a0001c0002t0003g0169others(1): Show | 4 | 306 | 0.0131 | 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 | a0001c0001t0001g0166a0001c0001t0001g0170a0001c0001t0001g0171others(11): Show | 14 | 306 | 0.0458 | 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 | a0001c0001t0001g0109a0001c0001t0001g0120a0001c0001t0001g0124others(103): Show | 107 | 306 | 0.3497 | 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 |
a0001a0012 | a0001c0001a0012c0026 | a0001c0001t0005a0012c0026t0014 | a0001c0001t0005g0034a0012c0026t0014g0010 | 2 | 352 | 0.0057 | 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 |
a0008a0015 | a0008c0009a0015c0040 | a0008c0009t0001a0015c0040t0001 | a0008c0009t0001g0228a0015c0040t0001g0169 | 2 | 360 | 0.0056 | 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 | a0003c0002t0001g0192a0003c0002t0001g0229 | 2 | 360 | 0.0056 | 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 | a0001c0001t0002g0075a0001c0001t0002g0096 | 2 | 232 | 0.0086 | 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 | a0001c0001t0001g0042a0001c0001t0001g0168 | 2 | 232 | 0.0086 | 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 | a0001c0001t0016 | a0001c0001t0016g0217 | 1 | 232 | 0.0043 | 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 | 249 | 0.0040 | 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 |
a0001a0003a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0006a0001c0001t0012a0001c0003t0005others(3): Show | a0001c0001t0006g0034a0001c0001t0012g0033a0001c0003t0005g0035others(3): Show | 6 | 249 | 0.0241 | 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 | 249 | 0.0040 | 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 | a0001c0002t0006g0187a0001c0012t0002g0155 | 2 | 249 | 0.0080 | 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 | a0001c0001t0010g0087a0001c0020t0002g0194 | 2 | 249 | 0.0080 | 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 | a0001c0001t0003g0143a0001c0001t0006g0167a0001c0001t0006g0220others(24): Show | 27 | 249 | 0.1084 | 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 | a0001c0004t0002g0136a0001c0004t0002g0198a0001c0004t0002g0206others(8): Show | 11 | 249 | 0.0442 | 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 | a0001c0001t0001g0325 | 1 | 336 | 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 | a0001c0002t0002g0055a0001c0002t0002g0076a0001c0002t0002g0087others(2): Show | 5 | 336 | 0.0149 | 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 |
a0001a0018 | a0001c0001a0018c0022 | a0001c0001t0001a0018c0022t0001 | a0001c0001t0001g0300a0018c0022t0001g0270 | 2 | 336 | 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 | a0001c0001t0001g0038 | 1 | 342 | 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 | a0001c0001t0001g0286 | 1 | 342 | 0.0029 | 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 |
a0001a0010 | a0001c0001a0010c0021 | a0001c0001t0001a0010c0021t0001 | a0001c0001t0001g0035a0010c0021t0001g0067 | 2 | 342 | 0.0059 | 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 | a0001c0001t0001g0043 | 1 | 342 | 0.0029 | 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 | a0001c0001t0001g0189a0001c0017t0001g0233 | 2 | 342 | 0.0059 | 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 | a0001c0004t0001g0318 | 1 | 342 | 0.0029 | 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 | a0001c0001t0002g0197 | 1 | 248 | 0.0040 | 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 | a0001c0002t0002g0165 | 1 | 248 | 0.0040 | 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 | a0001c0001t0001g0163a0001c0001t0001g0169a0001c0001t0001g0171others(59): Show | 62 | 248 | 0.2500 | 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 | a0001c0012t0006g0053a0001c0024t0001g0118a0002c0004t0002g0052others(4): Show | 7 | 248 | 0.0282 | 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 | a0001c0009t0001g0047a0001c0021t0013g0015a0001c0025t0002g0075others(3): Show | 6 | 248 | 0.0242 | 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 |
a0005a0022a0028 | a0005c0048a0022c0075a0028c0044 | a0005c0048t0001a0022c0075t0001a0028c0044t0001 | a0005c0048t0001g0063a0022c0075t0001g0049a0028c0044t0001g0302 | 3 | 357 | 0.0084 | 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 | a0001c0004t0001g0104 | 1 | 212 | 0.0047 | 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 | a0001c0001t0001g0012a0001c0001t0001g0063 | 2 | 212 | 0.0094 | 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 | 212 | 0.0047 | 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 | a0001c0001t0001g0014 | 4 | 416 | 0.0096 | 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 | a0001c0001t0009g0275a0001c0002t0002g0078a0001c0002t0004g0274 | 3 | 354 | 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 | 354 | 0.0028 | 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 | a0001c0001t0001g0075a0001c0001t0001g0088a0001c0001t0001g0089others(23): Show | 26 | 350 | 0.0743 | 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 | a0001c0001t0001g0108a0001c0001t0001g0113 | 2 | 350 | 0.0057 | 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 | a0001c0001t0018a0001c0001t0032a0001c0001t0061others(5): Show | a0001c0001t0018g0100a0001c0001t0032g0126a0001c0001t0061g0135others(5): Show | 8 | 318 | 0.0252 | 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 | a0002c0002t0002g0122a0002c0002t0002g0276 | 2 | 376 | 0.0053 | 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 | 376 | 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 | a0001c0001t0001g0265a0002c0004t0002g0270 | 2 | 376 | 0.0053 | 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 | a0001c0003t0002g0262 | 1 | 316 | 0.0032 | 22 | c.191 others(39): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar |