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 | 104888058 | GGTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG01257.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0011a0003c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0231 a0001c0001t0002g0075 a0001c0001t0004g0248 others(5): Show |
8 | 188 | 0.0426 | -4 | c.160 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104891966 | TAAAA | T | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(8): Show |
a0002a0003a0004others(3): Show | a0002c0024a0002c0031a0002c0037others(8): Show | a0002c0024t0008a0002c0031t0001a0002c0037t0001others(8): Show | a0002c0024t0008g0009 a0002c0031t0001g0192 a0002c0037t0001g0189 others(8): Show |
11 | 117 | 0.0940 | -4 | c.67- others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104898549 | AAAAT | A | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp2 HG01081.hp2 others(37): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0002c0017others(25): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0039others(32): Show | a0001c0001t0001g0121 a0001c0001t0001g0215 a0001c0001t0001g0273 others(37): Show |
40 | 158 | 0.2532 | -4 | c.66+ others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104909607 | TACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00621.hp2 others(37): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0035others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0012others(29): Show | a0001c0001t0003g0267 a0001c0001t0006g0044 a0001c0001t0006g0055 others(37): Show |
40 | 126 | 0.3175 | -4 | c.-92 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104932825 | CAAAA | C | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01168.hp2 others(42): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0002c0011others(30): Show | a0001c0001t0039a0001c0005t0002a0002c0011t0004others(38): Show | a0001c0001t0039g0158 a0001c0005t0002g0167 a0002c0011t0004g0177 others(42): Show |
45 | 150 | 0.3000 | -4 | c.-49 others(15): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 4671 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137004844 | TTCTC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(211): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(131): Show |
214 | 318 | 0.6730 | -4 | c.*30 others(15): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2389 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2289961 | TCACA | T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00639.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(49): Show |
53 | 89 | 0.5955 | -4 | c.251 others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2298617 | CCTCT | C | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02280.hp1 others(11): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(11): Show |
14 | 246 | 0.0569 | -4 | c.174 others(19): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2310427 | AAAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(34): Show |
a0001a0006a0007 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0215 others(34): Show |
37 | 248 | 0.1492 | -4 | c.111 others(23): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2315203 | TACAC | T | intron_variant | MODIFIER | HG00408.hp1 HG02135.hp2 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(8): Show |
11 | 179 | 0.0615 | -4 | c.111 others(23): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2316490 | CAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0003a0001c0005a0001c0025 | a0001c0003t0002a0001c0005t0006a0001c0025t0001 | a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 others(4): Show |
7 | 22 | 0.3182 | -4 | c.111 others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2343708 | CCTAT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01071.hp1 others(42): Show |
a0001a0004a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0091 others(42): Show |
45 | 60 | 0.7500 | -4 | c.-36 others(15): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2981 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93999527 | GCTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00733.hp2 others(34): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0081a0001c0108others(19): Show | a0001c0007t0001a0001c0081t0002a0001c0108t0001others(19): Show | a0001c0007t0001g0036 a0001c0007t0001g0041 a0001c0007t0001g0066 others(34): Show |
37 | 304 | 0.1217 | -4 | c.647 others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94018208 | TACAC | T | intron_variant | MODIFIER | NA18967.hp2 NA18974.hp2 NA18998.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0066 a0001c0007t0001g0148 a0001c0007t0001g0154 |
3 | 274 | 0.0109 | -4 | c.519 others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 36/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94020536 | GAATT | G | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG02895.hp1 others(7): Show |
a0003a0006a0018others(1): Show | a0003c0033a0003c0072a0006c0012others(4): Show | a0003c0033t0001a0003c0072t0001a0006c0012t0001others(4): Show | a0003c0033t0001g0183 a0003c0072t0001g0039 a0006c0012t0001g0038 others(7): Show |
10 | 304 | 0.0329 | -4 | c.501 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 35/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94044071 | TTCTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0003a0001c0004others(91): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(93): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0021 others(265): Show |
273 | 304 | 0.8980 | -4 | c.305 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 20/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94075330 | TAAAG | T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG02027.hp1 others(3): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0010t0001 | a0002c0002t0001g0007 a0002c0002t0001g0017 a0002c0002t0001g0092 others(3): Show |
6 | 304 | 0.0197 | -4 | c.155 others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94079249 | TCACA | T | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02896.hp1 others(1): Show |
a0001a0034a0039others(1): Show | a0001c0006a0034c0092a0039c0086others(1): Show | a0001c0006t0001a0034c0092t0004a0039c0086t0001others(1): Show | a0001c0006t0001g0140 a0034c0092t0004g0165 a0039c0086t0001g0128 others(1): Show |
4 | 229 | 0.0175 | -4 | c.123 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 9/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94091579 | TCACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(94): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0004others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(33): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0052 others(93): Show |
97 | 130 | 0.7462 | -4 | c.768 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116968 | CTCTT | C | intron_variant | MODIFIER | HG01952.hp1 HG01952.hp2 HG02040.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0028others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0070 a0001c0001t0001g0114 a0001c0001t0002g0103 others(6): Show |
10 | 150 | 0.0667 | -4 | c.67- others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94124145 | TTTTG | T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01978.hp1 HG02109.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0015others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0015t0001others(1): Show | a0001c0001t0001g0233 a0002c0002t0001g0190 a0002c0002t0001g0208 others(3): Show |
6 | 304 | 0.0197 | -4 | c.-31 others(15): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 2998 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69267778 | TATTA | T | intron_variant | MODIFIER | HG02622.hp2 HG03130.hp1 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0335 a0001c0004t0003g0336 a0001c0004t0003g0337 |
3 | 348 | 0.0086 | -4 | c.314 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 23/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69281047 | AAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(13): Show |
a0001a0002 | a0001c0004a0001c0010a0002c0001 | a0001c0004t0005a0001c0004t0014a0001c0004t0027others(2): Show | a0001c0004t0005g0017 a0001c0004t0005g0323 a0001c0004t0005g0324 others(13): Show |
16 | 345 | 0.0464 | -4 | c.239 others(23): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69284554 | TATTC | T | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0012g0013 |
3 | 348 | 0.0086 | -4 | c.227 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69288719 | GAAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0020others(43): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(269): Show |
274 | 292 | 0.9384 | -4 | c.190 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 14/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293833 | GGTGT | G | intron_variant | MODIFIER | HG02486.hp2 HG02622.hp2 HG02895.hp2 others(4): Show |
a0001a0003a0004 | a0001c0004a0003c0003a0004c0005 | a0001c0004t0003a0003c0003t0003a0004c0005t0016 | a0001c0004t0003g0335 a0001c0004t0003g0336 a0001c0004t0003g0337 others(4): Show |
7 | 255 | 0.0275 | -4 | c.149 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293869 | TGTGC | T | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0003 | a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0072 others(6): Show |
9 | 348 | 0.0259 | -4 | c.149 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298229 | TAGGA | T | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 HG02922.hp2 |
a0001a0004 | a0001c0004a0004c0005 | a0001c0004t0026a0004c0005t0003a0004c0005t0029 | a0001c0004t0026g0164 a0004c0005t0003g0194 a0004c0005t0029g0206 |
3 | 200 | 0.0150 | -4 | c.126 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298281 | AAGGG | A | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01358.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0001a0001c0004t0003a0001c0004t0005others(1): Show | a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 others(10): Show |
13 | 338 | 0.0385 | -4 | c.126 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | AATAT | A | intron_variant | MODIFIER | HG01192.hp1 HG02040.hp2 HG02071.hp1 others(7): Show |
a0002a0011 | a0002c0001a0002c0016a0011c0020 | a0002c0001t0004a0002c0001t0008a0002c0001t0022others(2): Show | a0002c0001t0004g0168 a0002c0001t0004g0171 a0002c0001t0004g0184 others(7): Show |
10 | 246 | 0.0407 | -4 | c.930 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69304419 | CAGAT | C | intron_variant | MODIFIER | HG02630.hp2 HG02965.hp1 NA19240.hp2 others(1): Show |
a0006 | a0006c0009 | a0006c0009t0003a0006c0009t0028 | a0006c0009t0003g0218 a0006c0009t0003g0219 a0006c0009t0003g0220 others(1): Show |
4 | 348 | 0.0115 | -4 | c.930 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69315956 | GAAAC | G | intron_variant | MODIFIER | NA18967.hp2 NA18977.hp2 NA19078.hp1 |
a0001a0013 | a0001c0002a0013c0018 | a0001c0002t0001a0013c0018t0001 | a0001c0002t0001g0124 a0001c0002t0001g0149 a0013c0018t0001g0147 |
3 | 348 | 0.0086 | -4 | c.-15 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69082328 | AACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(139): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(112): Show |
142 | 235 | 0.6043 | -4 | c.461 others(21): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 36/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69086486 | AATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(131): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(104): Show |
134 | 177 | 0.7571 | -4 | c.393 others(21): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69117045 | TAAAG | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(6): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0008 a0006c0007t0001g0023 a0006c0007t0001g0024 others(2): Show |
9 | 324 | 0.0278 | -4 | c.149 others(21): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69143833 | GTAGA | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp1 others(43): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0038 others(41): Show |
46 | 115 | 0.4000 | -4 | c.-21 others(15): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 1939 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146088 | GAATA | G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02148.hp2 NA20752.hp2 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0154 a0005c0005t0002g0155 a0005c0005t0002g0156 |
3 | 324 | 0.0093 | -4 | c.-43 others(15): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4194 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1045974 | TCCAG | T | intron_variant | MODIFIER | HG01071.hp2 HG02071.hp1 HG03688.hp1 others(2): Show |
a0005a0006a0012others(2): Show | a0005c0017a0006c0019a0012c0018others(2): Show | a0005c0017t0001a0006c0019t0002a0012c0018t0001others(2): Show | a0005c0017t0001g0027 a0006c0019t0002g0029 a0012c0018t0001g0028 others(2): Show |
5 | 28 | 0.1786 | -4 | c.144 others(21): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1048506 | AAAAC | A | intron_variant | MODIFIER | HG01071.hp1 HG02071.hp2 NA19066.hp1 others(2): Show |
a0001a0017 | a0001c0001a0017c0014 | a0001c0001t0003a0017c0014t0002 | a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | 28 | 0.1786 | -4 | c.227 others(21): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68893608 | ATTCC | A | intron_variant | MODIFIER | HG02896.hp1 HG03139.hp2 HG03209.hp2 others(1): Show |
a0001a0007 | a0001c0002a0007c0039 | a0001c0002t0001a0007c0039t0001 | a0001c0002t0001g0024 a0001c0002t0001g0029 a0001c0002t0001g0182 others(1): Show |
4 | 272 | 0.0147 | -4 | c.303 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 23/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68900538 | CAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01517.hp2 others(8): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0003a0003c0008others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0031 others(8): Show |
11 | 33 | 0.3333 | -4 | c.276 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 21/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68911734 | TACAC | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0118 a0001c0002t0001g0119 a0001c0003t0002g0101 others(9): Show |
14 | 105 | 0.1333 | -4 | c.213 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 17/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68922194 | CTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG02055.hp2 HG02647.hp2 others(5): Show |
a0001a0003a0005 | a0001c0001a0001c0005a0003c0029others(1): Show | a0001c0001t0001a0001c0005t0001a0003c0029t0001others(1): Show | a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0161 others(5): Show |
8 | 48 | 0.1667 | -4 | c.150 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944316 | TTATA | T | intron_variant | MODIFIER | HG01167.hp2 HG02135.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0252 a0004c0007t0001g0188 |
2 | 151 | 0.0132 | -4 | c.-5- others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68946050 | AAATT | A | intron_variant | MODIFIER | HG00544.hp1 HG01168.hp2 HG01496.hp1 others(38): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 others(38): Show |
41 | 250 | 0.1640 | -4 | c.-6+ others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68946945 | AAGAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(114): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(34): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(113): Show |
117 | 232 | 0.5043 | -4 | c.-6+ others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68947716 | ATTAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(60): Show |
a0001a0002a0006others(8): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(59): Show |
63 | 272 | 0.2316 | -4 | c.-6+ others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958473 | ATAAT | A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG02622.hp2 HG02896.hp1 others(6): Show |
a0001a0003a0007others(2): Show | a0001c0001a0003c0008a0007c0019others(3): Show | a0001c0001t0001a0003c0008t0001a0007c0019t0001others(3): Show | a0001c0001t0001g0154 a0003c0008t0001g0124 a0003c0008t0001g0125 others(6): Show |
9 | 272 | 0.0331 | -4 | c.-34 others(15): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3082 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958578 | TATAA | T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(3): Show |
a0001a0002a0022 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0117 a0001c0002t0001g0119 a0002c0006t0001g0001 others(2): Show |
6 | 272 | 0.0221 | -4 | c.-35 others(15): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3187 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958822 | ATATT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(140): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(27): Show | a0001c0001t0001g0025 a0001c0001t0001g0128 a0001c0001t0001g0154 others(140): Show |
143 | 269 | 0.5316 | -4 | c.-37 others(15): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3431 | chr17 | TogoVar |