regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 104794512 | T | TAA | splice_region_variant others(1): Show |
LOW | HG01099.hp1 HG01106.hp1 HG01192.hp2 others(21): Show |
a0002a0004a0005others(3): Show | a0002c0015a0002c0017a0002c0025others(14): Show | a0002c0015t0002a0002c0015t0004a0002c0015t0013others(19): Show | a0002c0015t0002g0315a0002c0015t0004g0004a0002c0015t0013g0305others(21): Show | 24 | 318 | 0.0755 | 2 | c.538 others(15): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 39/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104799394 | T | TCA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00558.hp2 others(82): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0005a0002c0017others(36): Show | a0001c0001t0007a0001c0001t0052a0001c0005t0001others(55): Show | a0001c0001t0007g0183a0001c0001t0052g0318a0001c0005t0001g0050others(82): Show | 85 | 318 | 0.2673 | 2 | c.494 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104807885 | T | TTA | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp2 HG02083.hp2 others(14): Show |
a0002a0005a0011others(7): Show | a0002c0031a0005c0014a0005c0026others(11): Show | a0002c0031t0001a0005c0014t0006a0005c0026t0024others(11): Show | a0002c0031t0001g0152a0002c0031t0001g0278a0005c0014t0006g0052others(14): Show | 17 | 318 | 0.0535 | 2 | c.427 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104810141 | C | CAT | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01070.hp2 others(34): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0035others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0074a0001c0001t0003g0086a0001c0001t0004g0193others(34): Show | 37 | 318 | 0.1164 | 2 | c.417 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar | ||||||
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 | a0001c0001t0001g0082a0001c0001t0001g0291a0001c0001t0003g0297others(11): Show | 14 | 318 | 0.0440 | 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 | a0001c0092t0012g0220a0002c0011t0007g0119a0002c0011t0007g0247others(80): Show | 83 | 318 | 0.2610 | 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 | a0006c0004t0006g0249a0006c0004t0011g0269a0006c0012t0010g0198others(3): Show | 6 | 318 | 0.0189 | 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 | a0003c0002t0002g0040a0004c0112t0005g0098a0004c0113t0002g0159others(18): Show | 21 | 318 | 0.0660 | 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 | a0002c0015t0004g0004a0002c0015t0031g0084a0002c0037t0001g0275others(24): Show | 27 | 318 | 0.0849 | 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 | a0002c0011t0004g0112a0002c0011t0004g0213a0002c0011t0004g0263others(145): Show | 148 | 318 | 0.4654 | 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(113): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0005a0001c0092others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0016a0001c0001t0001g0077a0001c0001t0001g0088others(113): Show | 116 | 318 | 0.3648 | 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 | a0002c0011t0004g0213a0002c0011t0004g0263a0002c0011t0007g0119others(47): Show | 50 | 318 | 0.1572 | 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 |
a0005a0008a0011 | a0005c0052a0008c0006a0011c0010 | a0005c0052t0001a0008c0006t0003a0011c0010t0005 | a0005c0052t0001g0281a0008c0006t0003g0187a0011c0010t0005g0258 | 3 | 318 | 0.0094 | 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 |
a0002a0011 | a0002c0025a0011c0010 | a0002c0025t0008a0011c0010t0005 | a0002c0025t0008g0285a0011c0010t0005g0097a0011c0010t0005g0169 | 3 | 318 | 0.0094 | 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 | a0001c0001t0039g0246a0002c0037t0001g0275a0002c0074t0027g0290others(8): Show | 11 | 318 | 0.0346 | 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 | a0001c0001t0006g0047a0001c0001t0006g0058a0001c0001t0049g0034others(8): Show | 11 | 318 | 0.0346 | 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 | a0001c0001t0002g0074a0001c0001t0003g0210a0001c0001t0006g0239others(19): Show | 22 | 318 | 0.0692 | 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 | a0001c0001t0001g0196a0001c0001t0002g0074a0001c0001t0003g0210others(27): Show | 30 | 318 | 0.0943 | 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 | a0001c0001t0003g0210a0001c0001t0043g0002a0001c0097t0001g0106others(16): Show | 19 | 318 | 0.0598 | 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 | a0001c0001t0011g0085a0001c0005t0002g0031a0002c0011t0004g0112others(18): Show | 21 | 318 | 0.0660 | 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 | a0001c0001t0001g0121a0001c0001t0001g0291a0001c0001t0002g0137others(84): Show | 87 | 318 | 0.2736 | 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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0027others(15): Show | 20 | 320 | 0.0625 | 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 | a0001c0014t0003g0155a0001c0014t0003g0162a0001c0015t0003g0062others(9): Show | 12 | 320 | 0.0375 | 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(36): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0035a0001c0001t0001g0058a0001c0001t0001g0068others(36): Show | 39 | 252 | 0.1548 | 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 | a0001c0001t0001g0088a0001c0001t0001g0094a0001c0001t0001g0189others(6): Show | 9 | 252 | 0.0357 | 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 | a0001c0001t0001g0059a0001c0001t0001g0084a0001c0001t0001g0090others(27): Show | 30 | 252 | 0.1191 | 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 |
a0001a0007a0008others(1): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0035a0001c0001t0001g0052a0001c0001t0001g0066others(69): Show | 73 | 252 | 0.2897 | 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 | a0001c0001t0001g0056a0001c0001t0001g0079a0001c0001t0002g0199others(6): Show | 9 | 252 | 0.0357 | 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 | a0001c0005t0001g0048a0001c0005t0006g0038a0001c0005t0006g0039others(2): Show | 5 | 252 | 0.0198 | 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 |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(3): Show | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0014g0249others(4): Show | 7 | 252 | 0.0278 | 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 | a0001c0001t0001g0110a0001c0001t0001g0198a0001c0001t0001g0209others(17): Show | 20 | 306 | 0.0654 | 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 | a0001c0001t0001g0056a0001c0001t0001g0094a0001c0001t0001g0095others(9): Show | 12 | 306 | 0.0392 | 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 | a0001c0007t0001g0037a0001c0007t0001g0064a0001c0007t0001g0089others(35): Show | 38 | 306 | 0.1242 | 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 |
a0004a0005 | a0004c0044a0005c0043a0005c0045 | a0004c0044t0002a0005c0043t0001a0005c0045t0001 | a0004c0044t0002g0190a0005c0043t0001g0194a0005c0045t0001g0203 | 3 | 306 | 0.0098 | 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(28): Show |
a0001a0002a0011others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(9): Show | a0001c0001t0001g0019a0001c0001t0001g0027a0001c0001t0001g0060others(27): Show | 31 | 306 | 0.1013 | 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 |
a0001a0002a0007others(3): Show | a0001c0001a0002c0002a0002c0095others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0095t0001others(4): Show | a0001c0001t0001g0169a0002c0002t0001g0211a0002c0095t0001g0163others(4): Show | 7 | 306 | 0.0229 | 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 |
a0001a0003a0005others(1): Show | a0001c0004a0001c0107a0003c0008others(5): Show | a0001c0004t0001a0001c0107t0001a0003c0008t0002others(5): Show | a0001c0004t0001g0036a0001c0107t0001g0009a0003c0008t0002g0065others(5): Show | 8 | 306 | 0.0261 | 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 | a0001c0005t0001g0175a0001c0006t0001g0039a0001c0107t0001g0009others(3): Show | 6 | 306 | 0.0196 | 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 |
a0001a0011a0020others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0056a0001c0001t0001g0139a0001c0001t0001g0172others(10): Show | 13 | 306 | 0.0425 | 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 | a0001c0001t0001g0271a0001c0004t0001g0151a0001c0006t0001g0142others(17): Show | 20 | 306 | 0.0654 | 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 |
a0001a0002a0006others(13): Show | a0001c0004a0001c0005a0002c0002others(22): Show | a0001c0004t0001a0001c0005t0001a0002c0002t0001others(22): Show | a0001c0004t0001g0236a0001c0005t0001g0175a0002c0002t0001g0001others(61): Show | 66 | 306 | 0.2157 | 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 |
a0002a0007a0012others(11): Show | a0002c0002a0002c0010a0002c0028others(18): Show | a0002c0002t0001a0002c0010t0001a0002c0028t0001others(18): Show | a0002c0002t0001g0001a0002c0002t0001g0010a0002c0002t0001g0020others(54): Show | 59 | 306 | 0.1928 | 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 |
a0002a0007a0012others(11): Show | a0002c0002a0002c0010a0002c0028others(18): Show | a0002c0002t0001a0002c0010t0001a0002c0028t0001others(18): Show | a0002c0002t0001g0001a0002c0002t0001g0010a0002c0002t0001g0020others(52): Show | 57 | 306 | 0.1863 | 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 |
a0001a0003a0005others(4): Show | a0001c0001a0003c0008a0005c0040others(4): Show | a0001c0001t0001a0003c0008t0002a0005c0040t0001others(4): Show | a0001c0001t0001g0067a0003c0008t0002g0246a0005c0040t0001g0125others(4): Show | 7 | 306 | 0.0229 | 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 |
a0001a0010a0011others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(4): Show | a0001c0001t0001g0056a0001c0001t0001g0086a0001c0001t0001g0094others(14): Show | 17 | 306 | 0.0556 | 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 |
a0001a0002a0005others(2): Show | a0001c0003a0001c0004a0002c0029others(3): Show | a0001c0003t0001a0001c0004t0001a0002c0029t0001others(3): Show | a0001c0003t0001g0191a0001c0004t0001g0193a0002c0029t0001g0241others(3): Show | 6 | 306 | 0.0196 | 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 | a0001c0001t0001g0027a0001c0001t0001g0053a0001c0001t0001g0056others(67): Show | 71 | 306 | 0.2320 | 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 |
a0001a0003a0006others(4): Show | a0001c0001a0003c0031a0006c0012others(4): Show | a0001c0001t0001a0003c0031t0004a0006c0012t0001others(4): Show | a0001c0001t0001g0132a0003c0031t0004g0130a0006c0012t0001g0134others(4): Show | 7 | 306 | 0.0229 | 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 | a0001c0006t0007g0054a0001c0006t0007g0106a0001c0006t0007g0107others(1): Show | 4 | 350 | 0.0114 | 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 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320others(3): Show | 6 | 350 | 0.0171 | 2 | c.468 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 36/38 | chr17 | TogoVar |