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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA1_chr9_104776006_104933155 | 104807843 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 HG03453.hp1 |
a0002a0032 | a0002c0046a0002c0057a0032c0083 | a0002c0046t0002a0002c0057t0001a0032c0083t0001 | a0002c0046t0002g0157 a0002c0057t0001g0151 a0032c0083t0001g0312 |
3 | 309 | 0.0097 | 8 | c.427 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104810141 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG02132.hp1 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0012a0003c0009t0001a0003c0009t0003 | a0001c0001t0012g0147 a0003c0009t0001g0193 a0003c0009t0003g0265 |
3 | 172 | 0.0174 | 8 | c.417 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104829943 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03195.hp2 HG06807.hp1 |
a0005a0018 | a0005c0052a0018c0034 | a0005c0052t0001a0018c0034t0001 | a0005c0052t0001g0195 a0018c0034t0001g0156 a0018c0034t0001g0301 |
3 | 97 | 0.0309 | 8 | c.189 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 14/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104850119 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(164): Show |
a0002a0003a0004others(21): Show | a0002c0011a0002c0015a0002c0017others(66): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(117): Show | a0002c0011t0004g0113 a0002c0011t0004g0177 a0002c0011t0004g0269 others(163): Show |
167 | 299 | 0.5585 | 8 | c.721 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 7/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104888058 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02559.hp1 HG04204.hp2 others(1): Show |
a0004a0007a0019 | a0004c0043a0007c0003a0019c0100 | a0004c0043t0003a0007c0003t0009a0019c0100t0009 | a0004c0043t0003g0129 a0004c0043t0003g0137 a0007c0003t0009g0173 others(1): Show |
4 | 184 | 0.0217 | 8 | c.160 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104909654 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0024a0002c0031 | a0002c0024t0008a0002c0031t0001 | a0002c0024t0008g0004 a0002c0024t0008g0009 a0002c0031t0001g0192 |
3 | 145 | 0.0207 | 8 | c.-92 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137020158 | C | CCCCTGGA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01099.hp2 others(33): Show |
a0001a0002a0003 | a0001c0006a0001c0009a0001c0014others(10): Show | a0001c0006t0003a0001c0009t0001a0001c0014t0003others(12): Show | a0001c0006t0003g0179 a0001c0006t0003g0180 a0001c0006t0003g0181 others(27): Show |
36 | 318 | 0.1132 | 8 | c.142 others(25): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 10/48 | chr9 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94046473 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00642.hp2 others(49): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0005others(18): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0060 others(46): Show |
52 | 294 | 0.1769 | 8 | c.291 others(25): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116966 | T | TTGTCTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18943.hp2 NA18950.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0271 a0001c0001t0001g0285 a0001c0003t0001g0278 others(3): Show |
6 | 274 | 0.0219 | 8 | c.67- others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116968 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG01106.hp2 others(35): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(23): Show | a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0073 others(35): Show |
38 | 178 | 0.2135 | 8 | c.67- others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69273447 | C | CTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00642.hp1 others(59): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0022a0002c0001others(4): Show | a0001c0004t0003a0001c0004t0017a0001c0022t0003others(8): Show | a0001c0004t0003g0330 a0001c0004t0003g0335 a0001c0004t0003g0336 others(57): Show |
62 | 79 | 0.7848 | 8 | c.276 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293833 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01192.hp2 HG01928.hp2 others(7): Show |
a0001a0003a0006others(1): Show | a0001c0002a0003c0003a0006c0009others(1): Show | a0001c0002t0001a0003c0003t0003a0006c0009t0003others(1): Show | a0001c0002t0001g0098 a0001c0002t0001g0099 a0003c0003t0003g0005 others(7): Show |
10 | 258 | 0.0388 | 8 | c.149 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298221 | A | AAGGTAGG others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02523.hp2 HG02698.hp2 others(1): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0019 | a0001c0002t0001g0068 a0001c0002t0001g0103 a0001c0002t0001g0111 others(1): Show |
4 | 306 | 0.0131 | 8 | c.126 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298225 | T | TAGGTAGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(35): Show |
a0002a0007a0009others(3): Show | a0002c0001a0007c0011a0009c0025others(3): Show | a0002c0001t0002a0002c0001t0009a0002c0001t0011others(6): Show | a0002c0001t0002g0213 a0002c0001t0002g0217 a0002c0001t0002g0225 others(35): Show |
38 | 348 | 0.1092 | 8 | c.126 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298316 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01257.hp1 HG02258.hp1 others(9): Show |
a0001a0002a0013 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0004t0005a0001c0008t0001others(2): Show | a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0065 others(9): Show |
12 | 79 | 0.1519 | 8 | c.126 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69299471 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01358.hp2 HG01891.hp2 others(33): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0004a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0012a0001c0004t0017others(7): Show | a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0128 others(33): Show |
36 | 107 | 0.3364 | 8 | c.126 others(27): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01167.hp2 HG02622.hp1 others(10): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0025 | a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0081 others(10): Show |
13 | 167 | 0.0778 | 8 | c.931 others(23): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69086486 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp2 others(20): Show |
a0002a0006a0010 | a0002c0002a0006c0013a0010c0014 | a0002c0002t0002a0006c0013t0001a0010c0014t0002 | a0002c0002t0002g0026 a0002c0002t0002g0173 a0002c0002t0002g0176 others(19): Show |
23 | 66 | 0.3485 | 8 | c.393 others(25): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69142854 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01071.hp1 others(6): Show |
a0005a0017 | a0005c0005a0017c0030 | a0005c0005t0002a0017c0030t0002 | a0005c0005t0002g0123 a0005c0005t0002g0124 a0005c0005t0002g0125 others(6): Show |
9 | 148 | 0.0608 | 8 | c.-11 others(19): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 960 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69143833 | G | GTAGATAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(73): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show |
76 | 145 | 0.5241 | 8 | c.-21 others(19): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 1939 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1059248 | A | ATTATTTA others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02071.hp1 HG02723.hp1 others(3): Show |
a0005a0006a0009others(3): Show | a0005c0017a0006c0019a0009c0010others(3): Show | a0005c0017t0001a0006c0019t0002a0009c0010t0001others(3): Show | a0005c0017t0001g0027 a0006c0019t0002g0029 a0009c0010t0001g0013 others(3): Show |
6 | 16 | 0.3750 | 8 | c.546 others(25): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TATATATC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01516.hp2 others(7): Show |
a0001a0005a0018others(1): Show | a0001c0004a0005c0009a0018c0057others(1): Show | a0001c0004t0001a0005c0009t0001a0018c0057t0004others(1): Show | a0001c0004t0001g0033 a0001c0004t0001g0038 a0001c0004t0001g0180 others(7): Show |
10 | 97 | 0.1031 | 8 | c.314 others(25): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68901270 | T | TATCTAGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(108): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 others(108): Show |
111 | 272 | 0.4081 | 8 | c.276 others(27): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 21/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68911734 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02572.hp2 others(6): Show |
a0001a0016 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0046 others(6): Show |
9 | 100 | 0.0900 | 8 | c.213 others(27): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 17/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68922194 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01978.hp2 NA18982.hp1 NA18982.hp2 others(2): Show |
a0001a0002a0011 | a0001c0001a0001c0003a0002c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0226 a0001c0001t0001g0260 a0001c0003t0001g0073 others(2): Show |
5 | 45 | 0.1111 | 8 | c.150 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935262 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02129.hp2 HG02165.hp2 others(22): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0003a0004c0007others(5): Show | a0001c0001t0001a0001c0003t0001a0004c0007t0001others(5): Show | a0001c0001t0001g0191 a0001c0003t0001g0056 a0001c0003t0001g0057 others(22): Show |
25 | 50 | 0.5000 | 8 | c.466 others(25): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935540 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01168.hp2 HG01361.hp1 others(7): Show |
a0001a0006a0025others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0173 a0001c0002t0001g0051 others(7): Show |
10 | 100 | 0.1000 | 8 | c.466 others(25): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944316 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp2 others(9): Show |
a0001a0002a0026 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0233 others(9): Show |
12 | 161 | 0.0745 | 8 | c.-5- others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(9): Show |
a0001a0008a0010others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0001g0054 others(9): Show |
12 | 180 | 0.0667 | 8 | c.-5- others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68956352 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(11): Show | a0001c0001t0001g0014 a0001c0001t0001g0047 a0001c0001t0001g0154 others(22): Show |
25 | 75 | 0.3333 | 8 | c.-13 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 961 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958506 | A | AATATAAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG03195.hp1 |
a0001a0015 | a0001c0004a0015c0030 | a0001c0004t0001a0015c0030t0001 | a0001c0004t0001g0123 a0015c0030t0001g0104 |
2 | 153 | 0.0131 | 8 | c.-34 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3115 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958534 | A | AATATAAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0128 a0001c0002t0001g0126 a0001c0004t0001g0127 others(1): Show |
4 | 265 | 0.0151 | 8 | c.-34 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3143 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68989256 | T | TCTCTCAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00733.hp2 others(46): Show |
a0002a0007a0020 | a0002c0002a0002c0004a0002c0027others(2): Show | a0002c0002t0002a0002c0004t0002a0002c0027t0002others(2): Show | a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0010 others(41): Show |
49 | 165 | 0.2970 | 8 | c.395 others(25): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69041729 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00733.hp2 others(85): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0007a0002c0002others(8): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(9): Show | a0001c0001t0001g0082 a0001c0001t0001g0196 a0001c0001t0001g0203 others(76): Show |
88 | 121 | 0.7273 | 8 | c.800 others(25): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229535038 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00741.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0036 a0001c0002t0001g0046 a0001c0002t0001g0047 others(11): Show |
15 | 104 | 0.1442 | 8 | c.134 others(27): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975344 | T | TATATTTA others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG03098.hp2 |
a0002 | a0002c0012a0002c0054a0002c0056 | a0002c0012t0007a0002c0054t0006a0002c0056t0011 | a0002c0012t0007g0073 a0002c0054t0006g0074 a0002c0056t0011g0071 |
3 | 304 | 0.0099 | 8 | c.130 others(27): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975506 | G | GATAAATA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(34): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0001c0006others(16): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0010others(23): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0005t0001g0200 others(34): Show |
37 | 289 | 0.1280 | 8 | c.130 others(27): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975509 | A | AAATATAT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02257.hp1 others(7): Show |
a0003a0011 | a0003c0013a0003c0018a0003c0024others(3): Show | a0003c0013t0001a0003c0018t0011a0003c0018t0036others(4): Show | a0003c0013t0001g0013 a0003c0013t0001g0014 a0003c0013t0001g0089 others(7): Show |
10 | 304 | 0.0329 | 8 | c.130 others(27): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975514 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02015.hp2 HG02258.hp2 others(9): Show |
a0002a0009a0014 | a0002c0003a0002c0008a0002c0010others(4): Show | a0002c0003t0001a0002c0003t0010a0002c0008t0001others(8): Show | a0002c0003t0001g0263 a0002c0003t0010g0235 a0002c0008t0001g0284 others(9): Show |
12 | 303 | 0.0396 | 8 | c.130 others(27): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975564 | T | TATATTTA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03225.hp1 NA18947.hp1 |
a0001 | a0001c0002a0001c0066 | a0001c0002t0002a0001c0002t0007a0001c0066t0004 | a0001c0002t0002g0150 a0001c0002t0007g0163 a0001c0066t0004g0280 |
3 | 156 | 0.0192 | 8 | c.130 others(27): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169003323 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02818.hp1 HG03225.hp1 |
a0001 | a0001c0026a0001c0066 | a0001c0026t0001a0001c0066t0004 | a0001c0026t0001g0278 a0001c0026t0001g0279 a0001c0066t0004g0280 |
3 | 193 | 0.0155 | 8 | c.390 others(25): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169016979 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02055.hp2 HG02895.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0018a0003c0043 | a0001c0001t0001a0003c0018t0011a0003c0018t0036others(1): Show | a0001c0001t0001g0187 a0003c0018t0011g0085 a0003c0018t0036g0224 others(1): Show |
4 | 88 | 0.0455 | 8 | c.77- others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87504070 | A | ATGTCTCT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02615.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0018others(1): Show | a0001c0001t0006a0001c0001t0011a0001c0001t0015others(4): Show | a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0061 others(10): Show |
13 | 350 | 0.0371 | 8 | c.*16 others(17): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 28/28 | 172 | chr7 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87530790 | A | AAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00642.hp1 others(24): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0014 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0203 a0001c0001t0004g0100 a0002c0002t0001g0005 others(23): Show |
27 | 327 | 0.0826 | 8 | c.268 others(25): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530796 | A | AGCAAGAA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0002 a0001c0001t0003g0027 a0001c0001t0003g0029 others(2): Show |
6 | 350 | 0.0171 | 8 | c.268 others(25): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530838 | C | CAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0060 a0001c0001t0001g0091 others(26): Show |
29 | 255 | 0.1137 | 8 | c.268 others(25): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87589805 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02145.hp1 others(10): Show |
a0001a0006a0008 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0313 others(9): Show |
13 | 213 | 0.0610 | 8 | c.118 others(25): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87426944 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01243.hp2 HG02155.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0002t0001g0103 others(8): Show |
11 | 81 | 0.1358 | 8 | c.189 others(23): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 15/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87460622 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03453.hp2 HG03516.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0001 | a0001c0001t0001g0028 a0003c0008t0001g0026 a0003c0008t0001g0027 |
3 | 189 | 0.0159 | 8 | c.286 others(25): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 4/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20615582 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01255.hp2 HG01928.hp1 others(13): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0003a0002c0012others(9): Show | a0001c0001t0001a0002c0003t0003a0002c0012t0001others(9): Show | a0001c0001t0001g0056 a0002c0003t0003g0026 a0002c0012t0001g0090 others(13): Show |
16 | 90 | 0.1778 | 8 | c.-27 others(17): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 84 | chr7 | TogoVar |