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 | 104829943 | T | TAC | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01934.hp1 others(11): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0005a0004c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0083 a0001c0001t0001g0215 a0001c0001t0003g0221 others(11): Show |
14 | 108 | 0.1296 | 2 | c.189 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 14/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104831149 | T | TAA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00609.hp1 others(80): Show |
a0001a0002a0003others(10): Show | a0001c0092a0002c0011a0002c0015others(30): Show | a0001c0092t0012a0002c0011t0007a0002c0011t0012others(60): Show | a0001c0092t0012g0275 a0002c0011t0007g0119 a0002c0011t0007g0159 others(79): Show |
83 | 176 | 0.4716 | 2 | c.171 others(17): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 13/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104838305 | C | CAA | intron_variant | MODIFIER | HG00621.hp2 HG01978.hp2 HG03688.hp1 others(3): Show |
a0006a0007 | a0006c0004a0006c0012a0006c0063others(1): Show | a0006c0004t0006a0006c0004t0011a0006c0012t0010others(3): Show | a0006c0004t0006g0161 a0006c0004t0011g0183 a0006c0012t0010g0253 others(3): Show |
6 | 249 | 0.0241 | 2 | c.105 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 9/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104838453 | C | CAA | intron_variant | MODIFIER | HG00621.hp2 HG01891.hp1 HG02055.hp2 others(18): Show |
a0003a0004a0005others(6): Show | a0003c0002a0004c0112a0004c0113others(13): Show | a0003c0002t0002a0004c0112t0005a0004c0113t0002others(15): Show | a0003c0002t0002g0037 a0004c0112t0005g0101 a0004c0113t0002g0205 others(18): Show |
21 | 153 | 0.1373 | 2 | c.105 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 9/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104860053 | C | CAA | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(24): Show |
a0002a0003a0005others(4): Show | a0002c0015a0002c0037a0002c0046others(18): Show | a0002c0015t0004a0002c0015t0031a0002c0037t0001others(21): Show | a0002c0015t0004g0005 a0002c0015t0031g0085 a0002c0037t0001g0189 others(24): Show |
27 | 282 | 0.0957 | 2 | c.544 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 6/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104860755 | C | CTT | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(145): Show |
a0002a0003a0005others(17): Show | a0002c0011a0002c0015a0002c0017others(57): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(102): Show | a0002c0011t0004g0113 a0002c0011t0004g0177 a0002c0011t0004g0269 others(144): Show |
148 | 281 | 0.5267 | 2 | c.543 others(17): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 6/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862049 | T | TAC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(112): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0005a0001c0092others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0017 a0001c0001t0001g0078 a0001c0001t0001g0089 others(111): Show |
115 | 286 | 0.4021 | 2 | c.422 others(17): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862270 | A | ATT | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00673.hp1 others(47): Show |
a0002a0003a0006others(10): Show | a0002c0011a0002c0046a0003c0002others(16): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(31): Show | a0002c0011t0004g0177 a0002c0011t0004g0269 a0002c0011t0007g0119 others(47): Show |
50 | 315 | 0.1587 | 2 | c.422 others(17): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862681 | G | GCA | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp2 NA18906.hp1 |
a0005a0008a0012 | a0005c0052a0008c0006a0012c0010 | a0005c0052t0001a0008c0006t0003a0012c0010t0005 | a0005c0052t0001g0195 a0008c0006t0003g0242 a0012c0010t0005g0171 |
3 | 250 | 0.0120 | 2 | c.422 others(17): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862691 | G | GCA | intron_variant | MODIFIER | HG03041.hp2 HG03098.hp1 HG03540.hp2 |
a0002a0012 | a0002c0025a0012c0010 | a0002c0025t0008a0012c0010t0005 | a0002c0025t0008g0199 a0012c0010t0005g0100 a0012c0010t0005g0224 |
3 | 253 | 0.0119 | 2 | c.422 others(17): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAA | intron_variant | MODIFIER | HG01168.hp2 HG01952.hp1 HG02559.hp1 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0037a0002c0074others(7): Show | a0001c0001t0039a0002c0037t0001a0002c0074t0027others(7): Show | a0001c0001t0039g0158 a0002c0037t0001g0189 a0002c0074t0027g0214 others(8): Show |
11 | 31 | 0.3548 | 2 | c.421 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104888058 | G | GGT | intron_variant | MODIFIER | HG01433.hp2 HG01496.hp2 HG01515.hp1 others(8): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0005a0002c0015others(6): Show | a0001c0001t0006a0001c0001t0049a0001c0005t0002others(7): Show | a0001c0001t0006g0044 a0001c0001t0006g0055 a0001c0001t0049g0031 others(8): Show |
11 | 191 | 0.0576 | 2 | c.160 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104893421 | C | CAA | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG01070.hp2 others(19): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0092a0002c0015others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(19): Show | a0001c0001t0002g0075 a0001c0001t0003g0266 a0001c0001t0006g0294 others(19): Show |
22 | 134 | 0.1642 | 2 | c.67- others(17): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104896711 | C | CTT | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01106.hp2 others(27): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0108others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0251 a0001c0001t0002g0075 a0001c0001t0003g0266 others(27): Show |
30 | 75 | 0.4000 | 2 | c.66+ others(17): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104909607 | T | TAC | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01169.hp1 others(16): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0097a0002c0015others(14): Show | a0001c0001t0003a0001c0001t0043a0001c0097t0001others(16): Show | a0001c0001t0003g0266 a0001c0001t0043g0003 a0001c0097t0001g0107 others(16): Show |
19 | 105 | 0.1810 | 2 | c.-92 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104909654 | A | ACG | intron_variant | MODIFIER | HG01070.hp2 HG01257.hp2 HG02622.hp2 others(18): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0005a0002c0011others(15): Show | a0001c0001t0011a0001c0005t0002a0002c0011t0004others(17): Show | a0001c0001t0011g0086 a0001c0005t0002g0028 a0002c0011t0004g0113 others(18): Show |
21 | 163 | 0.1288 | 2 | c.-92 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104926016 | T | TAA | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp2 others(84): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0005a0001c0035others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0121 a0001c0001t0001g0215 a0001c0001t0002g0139 others(83): Show |
87 | 231 | 0.3766 | 2 | c.-93 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137003473 | T | TTG | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00738.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0012others(2): Show | a0001c0001t0001a0001c0009t0001a0001c0012t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0026 others(15): Show |
20 | 318 | 0.0629 | 2 | c.*44 others(13): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3760 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137005328 | A | AAC | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02559.hp1 HG02647.hp2 others(9): Show |
a0001 | a0001c0014a0001c0015a0001c0023others(5): Show | a0001c0014t0003a0001c0015t0003a0001c0023t0003others(6): Show | a0001c0014t0003g0162 a0001c0014t0003g0170 a0001c0015t0003g0062 others(9): Show |
12 | 318 | 0.0377 | 2 | c.*26 others(13): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 1905 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2289961 | T | TCA | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00642.hp2 others(35): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0068 others(35): Show |
38 | 74 | 0.5135 | 2 | c.251 others(19): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2293367 | C | CTT | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00735.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0189 others(6): Show |
9 | 160 | 0.0563 | 2 | c.241 others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2315203 | T | TAC | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00738.hp1 others(27): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0090 others(27): Show |
30 | 198 | 0.1515 | 2 | c.111 others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2316490 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp1 others(70): Show |
a0001a0008a0009others(1): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0066 others(69): Show |
73 | 88 | 0.8295 | 2 | c.111 others(19): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2320985 | C | CTT | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG03041.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0002g0199 others(6): Show |
9 | 66 | 0.1364 | 2 | c.614 others(19): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2328996 | C | CTT | intron_variant | MODIFIER | HG01884.hp1 HG02809.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0005a0001c0009 | a0001c0005t0001a0001c0005t0006a0001c0009t0001 | a0001c0005t0001g0048 a0001c0005t0006g0038 a0001c0005t0006g0039 others(2): Show |
5 | 209 | 0.0239 | 2 | c.-33 others(19): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2338751 | C | CTT | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02622.hp1 others(4): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(3): Show | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0014g0249 others(4): Show |
7 | 195 | 0.0359 | 2 | c.-53 others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93988609 | T | TGG | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG01243.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0070 a0001c0001t0001g0193 a0001c0001t0001g0204 others(17): Show |
20 | 106 | 0.1887 | 2 | c.*46 others(13): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 4224 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93990873 | C | CTT | downstream_gene_variant | MODIFIER | HG01169.hp1 HG01361.hp2 HG01891.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0007others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 others(9): Show |
12 | 281 | 0.0427 | 2 | c.*23 others(13): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1960 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94002995 | T | TCA | 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 | 2 | c.614 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 44/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94016822 | G | GGC | intron_variant | MODIFIER | NA19063.hp2 NA19079.hp1 NA19084.hp2 |
a0004a0007 | a0004c0044a0007c0043a0007c0045 | a0004c0044t0002a0007c0043t0001a0007c0045t0001 | a0004c0044t0002g0205 a0007c0043t0001g0207 a0007c0045t0001g0206 |
3 | 304 | 0.0099 | 2 | c.519 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 36/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94018208 | T | TAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(27): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(9): Show | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0100 others(26): Show |
30 | 301 | 0.0997 | 2 | c.519 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 36/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94028906 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01109.hp1 others(4): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0002c0095others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0095t0001others(4): Show | a0001c0001t0001g0146 a0002c0002t0001g0208 a0002c0095t0001g0163 others(4): Show |
7 | 216 | 0.0324 | 2 | c.453 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94036380 | C | CTT | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02572.hp1 others(5): Show |
a0001a0003a0007others(1): Show | a0001c0004a0001c0107a0003c0008others(5): Show | a0001c0004t0001a0001c0107t0001a0003c0008t0002others(5): Show | a0001c0004t0001g0044 a0001c0107t0001g0268 a0003c0008t0002g0040 others(5): Show |
8 | 300 | 0.0267 | 2 | c.386 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 26/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94042098 | C | CAA | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp1 HG02572.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0005a0001c0006a0001c0107others(3): Show | a0001c0005t0001a0001c0006t0001a0001c0107t0001others(3): Show | a0001c0005t0001g0161 a0001c0006t0001g0033 a0001c0107t0001g0268 others(3): Show |
6 | 29 | 0.2069 | 2 | c.332 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 22/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94049827 | A | AAC | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG00738.hp2 others(10): Show |
a0001a0009a0014others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0067 a0001c0001t0001g0145 a0001c0001t0001g0151 others(9): Show |
13 | 284 | 0.0458 | 2 | c.265 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 17/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94063733 | G | GAA | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02109.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(9): Show | a0001c0001t0001g0267 a0001c0004t0001g0156 a0001c0006t0001g0175 others(17): Show |
20 | 304 | 0.0658 | 2 | c.155 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94079249 | T | TCA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(63): Show |
a0001a0002a0005others(13): Show | a0001c0004a0001c0005a0002c0002others(22): Show | a0001c0004t0001a0001c0005t0001a0002c0002t0001others(22): Show | a0001c0004t0001g0234 a0001c0005t0001g0161 a0002c0002t0001g0002 others(60): Show |
66 | 291 | 0.2268 | 2 | c.123 others(17): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 9/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94082538 | C | CCA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(56): Show |
a0002a0005a0013others(11): Show | a0002c0002a0002c0010a0002c0028others(18): Show | a0002c0002t0001a0002c0010t0001a0002c0028t0001others(18): Show | a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0017 others(53): Show |
59 | 304 | 0.1941 | 2 | c.858 others(17): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 7/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94089470 | A | ATT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(54): Show |
a0002a0005a0013others(11): Show | a0002c0002a0002c0010a0002c0028others(18): Show | a0002c0002t0001a0002c0010t0001a0002c0028t0001others(18): Show | a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0017 others(51): Show |
57 | 280 | 0.2036 | 2 | c.769 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94091579 | T | TCA | intron_variant | MODIFIER | HG02257.hp1 HG02809.hp1 HG02818.hp2 others(4): Show |
a0001a0003a0007others(4): Show | a0001c0001a0003c0008a0007c0040others(4): Show | a0001c0001t0001a0003c0008t0002a0007c0040t0001others(4): Show | a0001c0001t0001g0047 a0003c0008t0002g0237 a0007c0040t0001g0122 others(4): Show |
7 | 40 | 0.1750 | 2 | c.768 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94095749 | G | GTT | intron_variant | MODIFIER | HG00558.hp1 HG01361.hp2 HG01515.hp1 others(14): Show |
a0001a0009a0010others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(4): Show | a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0067 others(14): Show |
17 | 154 | 0.1104 | 2 | c.768 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116968 | C | CTT | intron_variant | MODIFIER | HG02486.hp1 HG03516.hp1 HG04228.hp2 others(3): Show |
a0001a0002a0007others(2): Show | a0001c0003a0001c0004a0002c0029others(3): Show | a0001c0003t0001a0001c0004t0001a0002c0029t0001others(3): Show | a0001c0003t0001g0188 a0001c0004t0001g0194 a0002c0029t0001g0263 others(3): Show |
6 | 146 | 0.0411 | 2 | c.67- others(17): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94124149 | G | GTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(68): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0004others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(27): Show | a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0052 others(67): Show |
71 | 280 | 0.2536 | 2 | c.-31 others(13): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 3002 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94124158 | G | GTT | upstream_gene_variant | MODIFIER | HG01081.hp2 HG02723.hp2 HG02896.hp1 others(4): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0031a0005c0034others(4): Show | a0001c0001t0001a0003c0031t0004a0005c0034t0002others(4): Show | a0001c0001t0001g0127 a0003c0031t0004g0131 a0005c0034t0002g0132 others(4): Show |
7 | 16 | 0.4375 | 2 | c.-31 others(13): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 3011 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69245316 | G | GAT | 3_prime_UTR_variant | MODIFIER | NA18944.hp1 NA18949.hp1 NA18995.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0053 a0001c0006t0007g0107 a0001c0006t0007g0108 others(1): Show |
4 | 348 | 0.0115 | 2 | c.*22 others(13): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2220 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69250354 | G | GAT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01433.hp2 others(3): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0014a0001c0004t0027a0001c0006t0001 | a0001c0004t0014g0320 a0001c0004t0014g0321 a0001c0004t0027g0319 others(3): Show |
6 | 348 | 0.0172 | 2 | c.468 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 36/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CTT | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00642.hp1 others(42): Show |
a0003a0006 | a0003c0003a0006c0009 | a0003c0003t0003a0003c0003t0015a0003c0003t0021others(2): Show | a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0005 others(40): Show |
45 | 61 | 0.7377 | 2 | c.331 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293833 | G | GGT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01168.hp2 others(28): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0004a0001c0006others(4): Show | a0001c0002t0001a0001c0004t0008a0001c0004t0014others(7): Show | a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0077 others(28): Show |
31 | 279 | 0.1111 | 2 | c.149 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298308 | G | GAA | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0012g0013 |
3 | 348 | 0.0086 | 2 | c.126 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298314 | G | GGA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(4): Show |
a0002a0005 | a0002c0001a0005c0007 | a0002c0001t0002a0005c0007t0006 | a0002c0001t0002g0224 a0005c0007t0006g0338 a0005c0007t0006g0339 others(4): Show |
7 | 243 | 0.0288 | 2 | c.126 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar |