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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA5_chr17_69239311_69332133 | 69258969 | GATGTGGA others(4): Show |
G | intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0280 | 1 | 350 | 0.0029 | -11 | c.373 others(28): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 28/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69272699 | GTAATTTT others(4): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01192.hp1 others(26): Show |
a0002a0012 | a0002c0001a0002c0016a0012c0020 | a0002c0001t0004a0002c0001t0008a0002c0001t0022others(2): Show | a0002c0001t0004g0003a0002c0001t0004g0169a0002c0001t0004g0170others(25): Show | 29 | 350 | 0.0829 | -11 | c.276 others(30): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69322363 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02257.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045a0001c0002t0001g0046 | 2 | 350 | 0.0057 | -11 | c.-16 others(28): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68904289 | AGAAATAA others(4): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01258.hp1 HG02602.hp1 others(11): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0118others(11): Show | 14 | 274 | 0.0511 | -11 | c.239 others(28): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 19/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68922190 | CTCTCTTT others(4): Show |
C | intron_variant | MODIFIER | HG01069.hp1 NA19083.hp1 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0001a0002c0006t0001 | a0001c0003t0001g0087a0002c0006t0001g0094 | 2 | 274 | 0.0073 | -11 | c.150 others(26): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68922194 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02602.hp2 HG02698.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0005t0001g0149 | 3 | 274 | 0.0110 | -11 | c.150 others(26): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68931761 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03471.hp2 |
a0004 | a0004c0008 | a0004c0008t0001a0004c0008t0005 | a0004c0008t0001g0153a0004c0008t0005g0152 | 2 | 274 | 0.0073 | -11 | c.797 others(26): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 7/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958552 | TAATTATA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(3): Show |
a0001a0002a0018 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0118a0001c0002t0001g0120a0002c0006t0001g0001others(2): Show | 6 | 274 | 0.0219 | -11 | c.-35 others(22): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3161 | chr17 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168979672 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00621.hp1 others(102): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(35): Show | a0001c0001t0001g0048a0001c0001t0001g0109a0001c0001t0001g0120others(101): Show | 105 | 306 | 0.3431 | -11 | c.119 others(28): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 11/27 | chr2 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87502495 | TTATATAT others(4): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02886.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0007 | a0001c0001t0011a0001c0005t0016a0004c0007t0008 | a0001c0001t0011g0249a0001c0005t0016g0096a0004c0007t0008g0334others(1): Show | 4 | 352 | 0.0114 | -11 | c.*17 others(22): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 521 | chr7 | TogoVar | ||||||
ABCB4_chr7_87396696_87480680 | 87427599 | ACTATTAA others(4): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00735.hp2 others(17): Show |
a0002 | a0002c0005a0002c0009a0002c0010others(1): Show | a0002c0005t0001a0002c0009t0001a0002c0010t0001others(1): Show | a0002c0005t0001g0035a0002c0005t0001g0036a0002c0005t0001g0042others(17): Show | 20 | 290 | 0.0690 | -11 | c.189 others(28): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 15/27 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20681104 | CTTTCTTT others(4): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02809.hp1 HG02965.hp1 others(6): Show |
a0001a0002a0065others(4): Show | a0001c0001a0002c0003a0065c0099others(4): Show | a0001c0001t0001a0002c0003t0003a0065c0099t0004others(4): Show | a0001c0001t0001g0181a0002c0003t0003g0023a0002c0003t0003g0026others(6): Show | 9 | 360 | 0.0250 | -11 | c.170 others(28): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20691168 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02818.hp2 HG02922.hp2 others(2): Show |
a0002a0018a0024others(2): Show | a0002c0012a0018c0072a0024c0093others(2): Show | a0002c0012t0001a0018c0072t0013a0024c0093t0001others(2): Show | a0002c0012t0001g0084a0018c0072t0013g0056a0024c0093t0001g0075others(2): Show | 5 | 360 | 0.0139 | -11 | c.201 others(30): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20717883 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0077 | a0001c0001t0001a0001c0077t0001 | a0001c0001t0001g0329a0001c0077t0001g0245 | 2 | 360 | 0.0056 | -11 | c.242 others(30): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB7_chrX_75046048_75161283 | 75115266 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 232 | 0.0043 | -11 | c.169 others(26): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCC11_chr16_48160773_48252539 | 48239561 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02886.hp2 others(2): Show |
a0004 | a0004c0009 | a0004c0009t0001a0004c0009t0010 | a0004c0009t0001g0126a0004c0009t0001g0128a0004c0009t0001g0129others(2): Show | 5 | 158 | 0.0317 | -11 | c.-18 others(28): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 1/29 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15972787 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 249 | 0.0040 | -11 | c.48+ others(28): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16010037 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0156 | 1 | 249 | 0.0040 | -11 | c.351 others(26): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16050729 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0100 | 1 | 249 | 0.0040 | -11 | c.138 others(30): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16053774 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp2 others(12): Show |
a0001a0002a0011 | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(8): Show | a0001c0001t0001g0125a0001c0001t0001g0134a0001c0001t0005g0101others(12): Show | 15 | 249 | 0.0602 | -11 | c.147 others(28): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16142514 | CCAGGGGG others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0024 | a0003c0024t0021 | a0003c0024t0021g0003 | 1 | 249 | 0.0040 | -11 | c.*12 others(22): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 31/31 | 1234 | chr16 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50671702 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01081.hp2 HG01243.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0002c0006a0002c0010others(2): Show | a0001c0001t0001a0002c0006t0001a0002c0010t0001others(2): Show | a0001c0001t0001g0178a0001c0001t0001g0188a0001c0001t0001g0305others(12): Show | 15 | 342 | 0.0439 | -11 | c.224 others(30): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673941 | TTTCTTTC others(4): Show |
T | intron_variant | MODIFIER | NA19060.hp1 | a0013 | a0013c0034 | a0013c0034t0001 | a0013c0034t0001g0144 | 1 | 342 | 0.0029 | -11 | c.259 others(28): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673977 | TTTCTCTC others(4): Show |
T | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 342 | 0.0029 | -11 | c.259 others(28): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673980 | CTCTCTCT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0037others(1): Show | a0001c0001t0002a0001c0003t0001a0001c0037t0001others(1): Show | a0001c0001t0002g0093a0001c0001t0002g0282a0001c0003t0001g0215others(2): Show | 5 | 342 | 0.0146 | -11 | c.259 others(28): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673984 | CTCTCTCT others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301 | 1 | 342 | 0.0029 | -11 | c.259 others(28): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673985 | TCTCTCTC others(4): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 342 | 0.0029 | -11 | c.259 others(28): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673992 | CTCTCTCT others(4): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0103 | 1 | 342 | 0.0029 | -11 | c.259 others(28): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673993 | TCTCTCTC others(4): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0116 | 1 | 342 | 0.0029 | -11 | c.259 others(28): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674053 | TTTCTTTC others(4): Show |
T | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 342 | 0.0029 | -11 | c.259 others(28): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95054021 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0003t0001a0001c0012t0016 | a0001c0001t0001g0154a0001c0003t0001g0020a0001c0012t0016g0089 | 3 | 248 | 0.0121 | -11 | c.336 others(28): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95189124 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00609.hp1 others(19): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0014a0001c0017others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0008others(9): Show | a0001c0001t0001g0064a0001c0001t0001g0163a0001c0001t0001g0211others(19): Show | 22 | 248 | 0.0887 | -11 | c.126 others(28): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 9/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95208608 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02723.hp2 NA18974.hp1 NA20300.hp1 |
a0001a0003 | a0001c0001a0001c0054a0003c0008 | a0001c0001t0001a0001c0054t0003a0003c0008t0001 | a0001c0001t0001g0154a0001c0054t0003g0131a0003c0008t0001g0062 | 3 | 248 | 0.0121 | -11 | c.786 others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 6/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95296134 | AAACACAC others(4): Show |
A | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 248 | 0.0040 | -11 | c.74+ others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95296175 | CACACACA others(4): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0009 | a0009c0033 | a0009c0033t0017 | a0009c0033t0017g0003 | 1 | 248 | 0.0040 | -11 | c.74+ others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16149371 | ATACACAC others(4): Show |
A | downstream_gene_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0145 | 1 | 357 | 0.0028 | -11 | c.*75 others(20): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 193 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16184198 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0042 | a0042c0039 | a0042c0039t0001 | a0042c0039t0001g0032 | 1 | 357 | 0.0028 | -11 | c.194 others(28): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 15/30 | chr16 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17399275 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(69): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0007others(13): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(13): Show | a0001c0001t0001g0068a0001c0001t0001g0074a0001c0001t0001g0076others(67): Show | 72 | 330 | 0.2182 | -11 | c.365 others(28): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 29/38 | chr11 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21816036 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG01934.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0061a0001c0001t0001g0082a0001c0001t0001g0093others(6): Show | 9 | 212 | 0.0425 | -11 | c.389 others(28): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21841347 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0008a0001c0006t0001 | a0001c0001t0008g0188a0001c0001t0008g0189a0001c0006t0001g0191 | 3 | 212 | 0.0142 | -11 | c.347 others(28): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 29/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21869264 | TCCTGCTG others(4): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0179 | 1 | 212 | 0.0047 | -11 | c.219 others(30): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 18/39 | chr12 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94469663 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271a0001c0001t0001g0272a0001c0001t0001g0273others(1): Show | 4 | 362 | 0.0111 | -11 | c.335 others(28): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94496694 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0122 | 1 | 362 | 0.0028 | -11 | c.138 others(30): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42217679 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp2 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0214a0001c0001t0001g0243a0001c0001t0002g0180others(12): Show | 15 | 354 | 0.0424 | -11 | c.-15 others(22): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 1460 | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42293228 | TACACACC others(4): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 | 1 | 354 | 0.0028 | -11 | c.165 others(30): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42295333 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0322a0001c0001t0009g0333 | 2 | 354 | 0.0057 | -11 | c.177 others(28): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42300508 | ATAGTATT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02886.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0004a0001c0001t0014a0001c0012t0004 | a0001c0001t0004g0279a0001c0001t0014g0062a0001c0012t0004g0276 | 3 | 354 | 0.0085 | -11 | c.*41 others(22): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 3265 | chr21 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88157663 | TTCTCATC others(4): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0331 | 1 | 350 | 0.0029 | -11 | c.-20 others(26): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43839403 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01943.hp2 HG01975.hp1 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0002 | a0003c0003t0001g0264a0004c0004t0002g0266 | 2 | 330 | 0.0061 | -11 | c.-73 others(20): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43839403 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01943.hp1 HG01975.hp2 |
a0002a0010 | a0002c0003a0010c0013 | a0002c0003t0045a0010c0013t0006a0010c0013t0017 | a0002c0003t0045g0169a0010c0013t0006g0168a0010c0013t0017g0167 | 3 | 318 | 0.0094 | -11 | c.63+ others(24): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |