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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA5_chr17_69239311_69332133 | 69273447 | C | CTATTTAT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(113): Show |
a0001a0003a0005others(2): Show | a0001c0002a0001c0004a0001c0006others(7): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(12): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(112): Show |
116 | 133 | 0.8722 | 12 | c.276 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69288719 | G | GAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03471.hp1 NA20129.hp1 |
a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0339 a0005c0007t0006g0340 a0005c0007t0006g0342 |
3 | 21 | 0.1429 | 12 | c.190 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 14/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293164 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0012g0013 |
3 | 229 | 0.0131 | 12 | c.149 others(31): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293833 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 NA18975.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0001 a0003c0003t0003g0025 |
3 | 251 | 0.0120 | 12 | c.149 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298221 | A | AAGGTAGG others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01255.hp1 others(26): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0002t0013a0001c0008t0001 | a0001c0002t0001g0056 a0001c0002t0001g0064 a0001c0002t0001g0065 others(26): Show |
29 | 331 | 0.0876 | 12 | c.126 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298229 | T | TAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG01884.hp1 others(31): Show |
a0002a0008 | a0002c0001a0002c0016a0008c0012 | a0002c0001t0002a0002c0001t0004a0002c0001t0011others(4): Show | a0002c0001t0002g0215 a0002c0001t0002g0222 a0002c0001t0002g0224 others(30): Show |
34 | 231 | 0.1472 | 12 | c.126 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298233 | A | AAGGTAGG others(5): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0006 | a0006c0009 | a0006c0009t0028 | a0006c0009t0028g0221 | 1 | 296 | 0.0034 | 12 | c.126 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298316 | G | GAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00639.hp1 others(61): Show |
a0001a0002a0004 | a0001c0002a0001c0006a0001c0008others(5): Show | a0001c0002t0001a0001c0002t0020a0001c0006t0001others(9): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0056 others(59): Show |
64 | 131 | 0.4886 | 12 | c.126 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69299471 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(75): Show |
a0001a0012a0013 | a0001c0002a0001c0006a0001c0008others(5): Show | a0001c0002t0001a0001c0002t0013a0001c0006t0001others(8): Show | a0001c0002t0001g0003 a0001c0002t0001g0047 a0001c0002t0001g0056 others(74): Show |
78 | 149 | 0.5235 | 12 | c.126 others(31): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03239.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 a0001c0002t0001g0156 |
2 | 156 | 0.0128 | 12 | c.931 others(27): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69086486 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03139.hp1 HG03654.hp1 others(2): Show |
a0002a0007 | a0002c0002a0007c0006 | a0002c0002t0002a0007c0006t0002 | a0002c0002t0002g0189 a0002c0002t0002g0238 a0002c0002t0002g0245 others(2): Show |
5 | 48 | 0.1042 | 12 | c.393 others(29): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69103911 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01069.hp1 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0062 others(23): Show |
30 | 72 | 0.4167 | 12 | c.274 others(29): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69134888 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(83): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0019others(8): Show | a0001c0001t0001a0002c0002t0002a0002c0019t0002others(9): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0114 others(75): Show |
86 | 100 | 0.8600 | 12 | c.461 others(27): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69141897 | A | AGCCTGGT others(5): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0228 | 1 | 324 | 0.0031 | 12 | c.-19 others(21): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 3 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69143833 | G | GTAGATAG others(5): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01258.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0063 others(8): Show |
11 | 80 | 0.1375 | 12 | c.-21 others(23): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 1939 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146307 | T | TATGGAAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0158 | 1 | 321 | 0.0031 | 12 | c.-46 others(23): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4413 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1050782 | A | AAATAATA others(5): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 1 | 4 | 0.2500 | 12 | c.255 others(29): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1059248 | A | ATTATTTA others(5): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02970.hp1 others(3): Show |
a0002a0004a0008others(2): Show | a0002c0003a0004c0005a0008c0022others(2): Show | a0002c0003t0001a0004c0005t0002a0008c0022t0001others(2): Show | a0002c0003t0001g0007 a0004c0005t0002g0002 a0004c0005t0002g0003 others(3): Show |
6 | 16 | 0.3750 | 12 | c.546 others(29): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG03017.hp2 others(2): Show |
a0001a0005 | a0001c0002a0001c0004a0001c0011others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0011t0001others(1): Show | a0001c0002t0001g0126 a0001c0002t0001g0176 a0001c0004t0001g0049 others(2): Show |
5 | 92 | 0.0543 | 12 | c.314 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887913 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 266 | 0.0038 | 12 | c.314 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887925 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(187): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(42): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(185): Show |
190 | 215 | 0.8837 | 12 | c.314 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887934 | G | GATATATA others(5): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 272 | 0.0037 | 12 | c.314 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68922194 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01978.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0200 |
2 | 42 | 0.0476 | 12 | c.150 others(27): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935540 | C | CTATATAT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01099.hp1 others(20): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(20): Show |
23 | 113 | 0.2035 | 12 | c.466 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG03130.hp2 NA20129.hp2 |
a0001a0032 | a0001c0005a0032c0021 | a0001c0005t0001a0032c0021t0001 | a0001c0005t0001g0137 a0032c0021t0001g0140 |
2 | 170 | 0.0118 | 12 | c.-5- others(27): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02965.hp1 HG02970.hp2 others(4): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0008a0004c0007others(3): Show | a0001c0001t0001a0003c0008t0001a0004c0007t0001others(3): Show | a0001c0001t0001g0028 a0003c0008t0001g0124 a0003c0008t0001g0125 others(4): Show |
7 | 175 | 0.0400 | 12 | c.-5- others(27): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 a0001c0001t0001g0249 |
2 | 170 | 0.0118 | 12 | c.-5- others(27): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68956352 | T | TACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01074.hp2 others(9): Show |
a0001a0004a0032 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0128 a0001c0001t0001g0210 a0001c0002t0001g0242 others(9): Show |
12 | 62 | 0.1935 | 12 | c.-13 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 961 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958437 | T | TATATTAT others(5): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG03195.hp1 |
a0001a0015 | a0001c0004a0015c0030 | a0001c0004t0001a0015c0030t0001 | a0001c0004t0001g0123 a0015c0030t0001g0104 |
2 | 146 | 0.0137 | 12 | c.-33 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3046 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958602 | T | TATAAAAT others(5): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02717.hp2 HG02922.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0005others(4): Show | a0001c0002t0001a0001c0004t0001a0001c0005t0001others(5): Show | a0001c0002t0001g0126 a0001c0004t0001g0127 a0001c0005t0001g0137 others(7): Show |
10 | 259 | 0.0386 | 12 | c.-35 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3211 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68989256 | T | TCTCTCAC others(5): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01175.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0130 a0002c0002t0002g0145 |
2 | 118 | 0.0169 | 12 | c.395 others(29): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69021678 | G | GTCCTTCC others(5): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0044 | 1 | 253 | 0.0040 | 12 | c.240 others(27): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69041729 | T | TCTATTAT others(5): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0194 | 1 | 34 | 0.0294 | 12 | c.800 others(29): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69041729 | T | TTATCTAT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
a0001a0002a0004others(14): Show | a0001c0001a0001c0007a0001c0008others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(28): Show | a0001c0001t0001g0011 a0001c0001t0001g0062 a0001c0001t0001g0157 others(156): Show |
167 | 200 | 0.8350 | 12 | c.800 others(29): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229529295 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03041.hp1 NA20129.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0021 a0002c0003t0003g0023 |
2 | 44 | 0.0455 | 12 | c.164 others(29): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 8/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229535038 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0082 | 1 | 90 | 0.0111 | 12 | c.134 others(31): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229550525 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0022 | 1 | 113 | 0.0088 | 12 | c.518 others(29): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169003319 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18953.hp2 NA19010.hp2 |
a0001a0014 | a0001c0007a0001c0015a0014c0034 | a0001c0007t0001a0001c0015t0002a0014c0034t0001 | a0001c0007t0001g0290 a0001c0015t0002g0289 a0014c0034t0001g0286 |
3 | 297 | 0.0101 | 12 | c.390 others(29): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530838 | C | CAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01169.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0025others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0185 a0001c0001t0001g0192 others(10): Show |
14 | 240 | 0.0583 | 12 | c.268 others(29): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530838 | C | CAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01257.hp2 HG02015.hp1 others(10): Show |
a0002a0007 | a0002c0002a0002c0010a0007c0014 | a0002c0002t0001a0002c0002t0002a0002c0002t0013others(2): Show | a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0142 others(10): Show |
13 | 239 | 0.0544 | 12 | c.268 others(29): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87589805 | G | GGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01192.hp1 HG02572.hp2 others(12): Show |
a0001a0002a0018 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0003g0020 others(12): Show |
15 | 215 | 0.0698 | 12 | c.118 others(29): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87426944 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02896.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0221 a0001c0002t0001g0108 a0001c0002t0001g0115 |
3 | 73 | 0.0411 | 12 | c.189 others(27): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 15/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20629145 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00621.hp2 others(25): Show |
a0001a0004a0006others(12): Show | a0001c0001a0001c0005a0004c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(20): Show | a0001c0001t0001g0292 a0001c0001t0001g0343 a0001c0001t0002g0265 others(25): Show |
28 | 48 | 0.5833 | 12 | c.259 others(27): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20634238 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19030.hp2 |
a0054a0068 | a0054c0045a0068c0044 | a0054c0045t0004a0068c0044t0001 | a0054c0045t0004g0064 a0068c0044t0001g0131 |
2 | 93 | 0.0215 | 12 | c.314 others(29): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20665724 | A | AAGATAGA others(5): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02451.hp1 others(11): Show |
a0001a0002a0007others(9): Show | a0001c0001a0002c0003a0002c0012others(10): Show | a0001c0001t0001a0002c0003t0003a0002c0003t0011others(11): Show | a0001c0001t0001g0344 a0002c0003t0003g0021 a0002c0003t0011g0015 others(11): Show |
14 | 168 | 0.0833 | 12 | c.170 others(31): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20681058 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0007 | a0007c0011 | a0007c0011t0004 | a0007c0011t0004g0128 | 1 | 345 | 0.0029 | 12 | c.170 others(29): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20691582 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(227): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0005a0001c0064others(71): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(100): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0138 others(225): Show |
230 | 290 | 0.7931 | 12 | c.201 others(31): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20691582 | T | TTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0157 | 1 | 61 | 0.0164 | 12 | c.201 others(31): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20704075 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02735.hp1 others(7): Show |
a0002a0004a0005others(5): Show | a0002c0003a0002c0041a0004c0008others(6): Show | a0002c0003t0011a0002c0041t0001a0004c0008t0002others(6): Show | a0002c0003t0011g0015 a0002c0041t0001g0122 a0004c0008t0002g0249 others(7): Show |
10 | 52 | 0.1923 | 12 | c.233 others(29): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20711778 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01993.hp2 others(5): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0008a0005c0006others(4): Show | a0001c0001t0001a0004c0008t0001a0005c0006t0001others(4): Show | a0001c0001t0001g0138 a0001c0001t0001g0208 a0004c0008t0001g0276 others(5): Show |
8 | 291 | 0.0275 | 12 | c.242 others(31): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |