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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA3_chr16_2270881_2345728 | 2337375 | CT | C | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(30): Show |
a0001a0007a0008 | a0001c0001a0001c0003a0001c0026others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0002others(3): Show | a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(30): Show |
33 | 250 | 0.1320 | -1 | c.-53 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2338751 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG01169.hp1 HG01515.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0183 a0001c0001t0003g0033 others(6): Show |
9 | 197 | 0.0457 | -1 | c.-53 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2343008 | GA | G | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02622.hp1 others(6): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0004g0006 others(6): Show |
9 | 250 | 0.0360 | -1 | c.-29 others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2281 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93988608 | GT | G | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01496.hp1 HG01928.hp2 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0009others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(9): Show | a0001c0001t0001g0003 a0001c0004t0001g0187 a0001c0004t0001g0225 others(10): Show |
13 | 304 | 0.0428 | -1 | c.*46 others(6): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 4225 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93988609 | TG | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(63): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0004others(30): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(30): Show | a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0067 others(63): Show |
66 | 152 | 0.4342 | -1 | c.*46 others(6): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 4224 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94002882 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00733.hp2 others(35): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0080a0001c0081others(20): Show | a0001c0007t0001a0001c0080t0001a0001c0081t0002others(20): Show | a0001c0007t0001g0036 a0001c0007t0001g0041 a0001c0007t0001g0066 others(35): Show |
38 | 304 | 0.1250 | -1 | c.614 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 44/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94002980 | TA | T | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00733.hp2 others(35): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0080a0001c0081others(20): Show | a0001c0007t0001a0001c0080t0001a0001c0081t0002others(20): Show | a0001c0007t0001g0036 a0001c0007t0001g0041 a0001c0007t0001g0066 others(35): Show |
38 | 304 | 0.1250 | -1 | c.614 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 44/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94003354 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00733.hp2 others(40): Show |
a0001a0002a0003others(12): Show | a0001c0004a0001c0006a0001c0007others(23): Show | a0001c0004t0001a0001c0006t0001a0001c0007t0001others(23): Show | a0001c0004t0001g0214 a0001c0006t0001g0175 a0001c0006t0001g0179 others(40): Show |
43 | 303 | 0.1419 | -1 | c.614 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 44/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94004254 | TC | T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01109.hp2 others(28): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0005others(17): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(17): Show | a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0004t0001g0156 others(28): Show |
31 | 304 | 0.1020 | -1 | c.614 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 44/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94006279 | AG | A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01109.hp2 others(52): Show |
a0001a0002a0003others(20): Show | a0001c0004a0001c0005a0001c0085others(28): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(29): Show | a0001c0004t0001g0044 a0001c0004t0001g0048 a0001c0004t0001g0156 others(52): Show |
55 | 304 | 0.1809 | -1 | c.600 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 43/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94007303 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00738.hp2 others(55): Show |
a0001a0002a0003others(22): Show | a0001c0004a0001c0005a0001c0085others(30): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(31): Show | a0001c0004t0001g0044 a0001c0004t0001g0048 a0001c0004t0001g0156 others(55): Show |
58 | 304 | 0.1908 | -1 | c.600 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 43/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94010339 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01081.hp1 others(24): Show |
a0001a0002a0003others(10): Show | a0001c0004a0001c0005a0001c0085others(14): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(15): Show | a0001c0004t0001g0044 a0001c0004t0001g0048 a0001c0004t0001g0187 others(24): Show |
27 | 304 | 0.0888 | -1 | c.571 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 40/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94010647 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(57): Show |
a0001a0002a0003others(24): Show | a0001c0004a0001c0005a0001c0085others(32): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(33): Show | a0001c0004t0001g0044 a0001c0004t0001g0048 a0001c0004t0001g0156 others(57): Show |
60 | 304 | 0.1974 | -1 | c.571 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 40/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94011435 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(57): Show |
a0001a0002a0003others(24): Show | a0001c0004a0001c0005a0001c0085others(32): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(33): Show | a0001c0004t0001g0044 a0001c0004t0001g0048 a0001c0004t0001g0156 others(57): Show |
60 | 304 | 0.1974 | -1 | c.546 others(8): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94013220 | TC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(160): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0004others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(30): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0021 others(156): Show |
163 | 304 | 0.5362 | -1 | c.546 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94013646 | CT | C | intron_variant | MODIFIER | HG00544.hp2 HG01169.hp2 HG01884.hp2 others(36): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0007others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(17): Show | a0001c0001t0001g0127 a0001c0001t0001g0200 a0001c0006t0001g0140 others(36): Show |
39 | 304 | 0.1283 | -1 | c.546 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94014203 | AG | A | intron_variant | MODIFIER | HG02970.hp1 HG03139.hp2 HG03516.hp2 others(1): Show |
a0003a0011a0040others(1): Show | a0003c0068a0011c0018a0040c0056others(1): Show | a0003c0068t0001a0011c0018t0001a0040c0056t0003others(1): Show | a0003c0068t0001g0035 a0011c0018t0001g0006 a0040c0056t0003g0142 others(1): Show |
4 | 262 | 0.0153 | -1 | c.546 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94018503 | AT | A | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG01169.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0007others(9): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(9): Show | a0001c0001t0001g0127 a0001c0001t0001g0200 a0001c0006t0001g0140 others(17): Show |
20 | 304 | 0.0658 | -1 | c.519 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 36/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94019019 | GT | G | intron_variant | MODIFIER | HG01243.hp1 HG01975.hp2 HG02155.hp1 others(38): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(24): Show | a0001c0001t0001g0030 a0001c0001t0001g0059 a0001c0001t0001g0153 others(38): Show |
41 | 225 | 0.1822 | -1 | c.519 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 36/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94029110 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(134): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0003a0001c0004others(62): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(63): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0030 others(132): Show |
137 | 304 | 0.4507 | -1 | c.453 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94034364 | GT | G | intron_variant | MODIFIER | HG00544.hp1 HG02080.hp2 NA19004.hp2 others(2): Show |
a0008a0021 | a0008c0014a0008c0024a0021c0077 | a0008c0014t0001a0008c0024t0001a0021c0077t0002 | a0008c0014t0001g0106 a0008c0014t0001g0108 a0008c0014t0001g0155 others(2): Show |
5 | 304 | 0.0164 | -1 | c.386 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 26/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94041513 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
a0001a0002a0003others(43): Show | a0001c0001a0001c0003a0001c0004others(87): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(89): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0030 others(230): Show |
236 | 302 | 0.7815 | -1 | c.332 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 22/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94042098 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(200): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0003a0001c0004others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(66): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0030 others(197): Show |
203 | 226 | 0.8982 | -1 | c.332 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 22/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94045318 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp2 others(55): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0060 others(52): Show |
58 | 289 | 0.2007 | -1 | c.291 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94046280 | TA | T | intron_variant | MODIFIER | HG02074.hp1 HG02258.hp1 HG02280.hp1 others(20): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(13): Show | a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0157 others(20): Show |
23 | 180 | 0.1278 | -1 | c.291 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94046304 | AT | A | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01516.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0085others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0085t0002others(6): Show | a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0164 others(17): Show |
21 | 296 | 0.0709 | -1 | c.291 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94046455 | CA | C | intron_variant | MODIFIER | HG01891.hp2 HG01928.hp1 HG02572.hp1 others(10): Show |
a0001a0003a0006others(5): Show | a0001c0001a0001c0107a0003c0031others(8): Show | a0001c0001t0001a0001c0107t0001a0003c0031t0004others(8): Show | a0001c0001t0001g0143 a0001c0001t0001g0223 a0001c0107t0001g0268 others(10): Show |
13 | 156 | 0.0833 | -1 | c.291 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94063937 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0003a0001c0004others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(44): Show | a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0056 others(122): Show |
126 | 304 | 0.4145 | -1 | c.155 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94072967 | AG | A | intron_variant | MODIFIER | NA18970.hp1 NA18983.hp2 NA18986.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0215 a0001c0003t0001g0278 a0001c0004t0001g0187 others(3): Show |
6 | 304 | 0.0197 | -1 | c.155 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94073448 | GC | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(116): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0004others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(43): Show | a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0047 others(115): Show |
119 | 304 | 0.3914 | -1 | c.155 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94078770 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(159): Show |
a0001a0003a0004others(22): Show | a0001c0001a0001c0003a0001c0004others(59): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(61): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0030 others(157): Show |
162 | 304 | 0.5329 | -1 | c.124 others(8): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 9/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94079993 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0003a0001c0004others(77): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(78): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0030 others(191): Show |
198 | 273 | 0.7253 | -1 | c.109 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 8/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94088834 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(55): Show |
a0002a0005a0013others(11): Show | a0002c0002a0002c0010a0002c0028others(18): Show | a0002c0002t0001a0002c0010t0001a0002c0028t0001others(18): Show | a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0017 others(52): Show |
58 | 304 | 0.1908 | -1 | c.769 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94089470 | AT | A | intron_variant | MODIFIER | HG01928.hp1 HG02630.hp2 HG02818.hp1 others(5): Show |
a0001a0003a0016others(3): Show | a0001c0001a0001c0003a0003c0057others(4): Show | a0001c0001t0001a0001c0003t0001a0003c0057t0002others(4): Show | a0001c0001t0001g0070 a0001c0003t0001g0018 a0001c0003t0001g0107 others(5): Show |
8 | 231 | 0.0346 | -1 | c.769 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94090357 | TA | T | intron_variant | MODIFIER | HG01081.hp2 HG02572.hp1 HG02647.hp1 others(13): Show |
a0001a0002a0003others(7): Show | a0001c0006a0001c0007a0001c0107others(12): Show | a0001c0006t0001a0001c0007t0001a0001c0107t0001others(12): Show | a0001c0006t0001g0177 a0001c0007t0001g0275 a0001c0107t0001g0268 others(13): Show |
16 | 304 | 0.0526 | -1 | c.769 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94092699 | TA | T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00738.hp2 others(29): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0004t0002a0001c0005t0001others(13): Show | a0001c0001t0001g0013 a0001c0001t0001g0060 a0001c0001t0001g0064 others(28): Show |
32 | 304 | 0.1053 | -1 | c.768 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94092808 | TG | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(70): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0004others(30): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(30): Show | a0001c0001t0001g0070 a0001c0001t0001g0267 a0001c0003t0001g0074 others(67): Show |
73 | 303 | 0.2409 | -1 | c.768 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94095749 | GT | G | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02647.hp2 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0006a0003c0008a0003c0031others(2): Show | a0001c0006t0001a0003c0008t0002a0003c0031t0004others(2): Show | a0001c0006t0001g0033 a0001c0006t0001g0140 a0003c0008t0002g0293 others(3): Show |
6 | 143 | 0.0420 | -1 | c.768 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94101317 | GT | G | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01943.hp1 others(23): Show |
a0001a0004a0007others(3): Show | a0001c0001a0001c0003a0001c0085others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0085t0002others(15): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0164 others(23): Show |
26 | 304 | 0.0855 | -1 | c.570 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 5/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94103382 | TG | T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00621.hp2 others(23): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(13): Show | a0001c0001t0001g0213 a0001c0001t0001g0271 a0001c0001t0001g0281 others(23): Show |
26 | 304 | 0.0855 | -1 | c.443 others(8): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 4/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94108786 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(79): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0003a0001c0004others(41): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(41): Show | a0001c0001t0001g0052 a0001c0001t0001g0118 a0001c0001t0001g0127 others(79): Show |
82 | 304 | 0.2697 | -1 | c.303 others(7): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 3/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94117006 | CT | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01071.hp1 others(14): Show |
a0001a0002a0010others(2): Show | a0001c0001a0001c0005a0001c0013others(5): Show | a0001c0001t0001a0001c0005t0001a0001c0013t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0137 a0001c0001t0001g0138 others(13): Show |
17 | 304 | 0.0559 | -1 | c.67- others(8): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94117474 | GC | G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(48): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0134 a0001c0001t0001g0135 others(47): Show |
51 | 304 | 0.1678 | -1 | c.66+ others(8): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94117481 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(84): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0004others(31): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(31): Show | a0001c0001t0001g0118 a0001c0001t0001g0182 a0001c0001t0001g0191 others(82): Show |
87 | 304 | 0.2862 | -1 | c.66+ others(8): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69245744 | GA | G | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0331 a0001c0010t0010g0332 a0001c0010t0010g0333 others(1): Show |
4 | 348 | 0.0115 | -1 | c.*17 others(6): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 1792 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69246410 | AG | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(112): Show |
a0001a0012a0013 | a0001c0002a0001c0006a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(9): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(111): Show |
115 | 348 | 0.3305 | -1 | c.*11 others(6): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 1126 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69249616 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0017 a0001c0004t0005g0323 a0001c0004t0005g0324 others(5): Show |
8 | 348 | 0.0230 | -1 | c.476 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 37/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69252836 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(115): Show |
a0001a0003a0012others(1): Show | a0001c0002a0001c0006a0001c0008others(5): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(10): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(114): Show |
118 | 313 | 0.3770 | -1 | c.441 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69253398 | CA | C | intron_variant | MODIFIER | HG01167.hp2 HG01257.hp1 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 a0001c0002t0001g0082 a0001c0002t0001g0090 |
3 | 348 | 0.0086 | -1 | c.441 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69256456 | CT | C | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01516.hp1 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0017a0002c0001t0002others(1): Show | a0001c0002t0001g0061 a0001c0002t0001g0114 a0001c0002t0001g0141 others(6): Show |
9 | 345 | 0.0261 | -1 | c.373 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 28/38 | chr17 | TogoVar |