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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AATK_chr17_81112295_81171221 | 81119229 | T | TGGGGCCG others(9): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02451.hp2 HG03041.hp1 others(9): Show |
a0001a0003a0005others(1): Show | a0001c0066a0003c0023a0005c0006others(3): Show | a0001c0066t0001a0003c0023t0001a0005c0006t0003others(4): Show | a0001c0066t0001g0185 a0003c0023t0001g0169 a0005c0006t0003g0112 others(9): Show |
12 | 110 | 0.1091 | 16 | c.408 others(33): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81119342 | C | CCGCGTGC others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(60): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(75): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(273): Show |
292 | 365 | 0.8000 | 16 | c.408 others(31): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81140708 | G | GGTGAGAC others(9): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 324 | 0.0031 | 16 | c.56- others(31): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81167338 | C | CCACTCAT others(9): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG03041.hp1 |
a0005a0016 | a0005c0006a0016c0022 | a0005c0006t0003a0016c0022t0009 | a0005c0006t0003g0261 a0016c0022t0009g0262 |
2 | 366 | 0.0055 | 16 | c.-13 others(27): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1118 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8673396 | C | CTGTGTGT others(9): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 118 | 0.0085 | 16 | c.-13 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1220 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8707353 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18522.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0004a0002c0006 | a0001c0001t0003a0002c0004t0007a0002c0006t0030 | a0001c0001t0003g0032 a0002c0004t0007g0342 a0002c0006t0030g0008 |
3 | 105 | 0.0286 | 16 | c.-41 others(35): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGGG others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01106.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0070 a0001c0001t0002g0074 a0001c0001t0003g0032 others(5): Show |
8 | 109 | 0.0734 | 16 | c.-41 others(35): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8711810 | G | GGATGGAT others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(159): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0091 others(159): Show |
162 | 263 | 0.6160 | 16 | c.-41 others(35): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737941 | A | AAAGGAAG others(9): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 355 | 0.0028 | 16 | c.70+ others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(9): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0047a0001c0003t0003 | a0001c0001t0047g0309 a0001c0003t0003g0345 |
2 | 73 | 0.0274 | 16 | c.70+ others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(9): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 72 | 0.0139 | 16 | c.70+ others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743423 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01943.hp1 HG02015.hp2 others(3): Show |
a0002a0005 | a0002c0005a0002c0006a0002c0007others(1): Show | a0002c0005t0001a0002c0005t0004a0002c0006t0001others(3): Show | a0002c0005t0001g0231 a0002c0005t0004g0263 a0002c0006t0001g0144 others(3): Show |
6 | 279 | 0.0215 | 16 | c.71- others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743441 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01192.hp2 others(6): Show |
a0002a0003 | a0002c0002a0002c0009a0003c0010 | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(4): Show | a0002c0002t0001g0329 a0002c0002t0006g0037 a0002c0002t0006g0332 others(6): Show |
9 | 356 | 0.0253 | 16 | c.71- others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0018 | a0002c0018t0046 | a0002c0018t0046g0330 | 1 | 99 | 0.0101 | 16 | c.71- others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754662 | A | ATTTCTTT others(9): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0335 | 1 | 21 | 0.0476 | 16 | c.317 others(33): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8773105 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01433.hp1 HG03669.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0004a0002c0005 | a0001c0003t0003a0002c0004t0001a0002c0004t0003others(1): Show | a0001c0003t0003g0159 a0002c0004t0001g0057 a0002c0004t0003g0193 others(1): Show |
4 | 31 | 0.1290 | 16 | c.954 others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CACATACA others(9): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01109.hp2 others(24): Show |
a0005a0006 | a0005c0005a0006c0007a0006c0016 | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(2): Show | a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(24): Show |
27 | 183 | 0.1475 | 16 | c.336 others(35): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01243.hp2 others(20): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0001a0003c0003t0001a0004c0004t0003others(1): Show | a0002c0002t0001g0054 a0003c0003t0001g0115 a0003c0003t0001g0116 others(19): Show |
23 | 179 | 0.1285 | 16 | c.336 others(35): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162840 | T | TATACATA others(9): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01952.hp1 HG01978.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 a0002c0002t0001g0061 a0002c0002t0001g0063 others(4): Show |
7 | 279 | 0.0251 | 16 | c.336 others(35): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69227114 | G | GATATATA others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 others(18): Show |
21 | 224 | 0.0938 | 16 | c.-17 others(31): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 2/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATACATA others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0091 | 1 | 25 | 0.0400 | 16 | c.382 others(33): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 |
a0003a0004 | a0003c0014a0004c0018 | a0003c0014t0006a0004c0018t0021 | a0003c0014t0006g0102 a0004c0018t0021g0082 |
2 | 26 | 0.0769 | 16 | c.382 others(33): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989210 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033 | 1 | 194 | 0.0052 | 16 | c.382 others(33): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02015.hp2 |
a0001a0010 | a0001c0004a0010c0046 | a0001c0004t0001a0010c0046t0002 | a0001c0004t0001g0160 a0010c0046t0002g0162 |
2 | 20 | 0.1000 | 16 | c.178 others(33): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215051609 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0062 | 1 | 3 | 0.3333 | 16 | c.507 others(31): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215065297 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0014 | a0014c0048 | a0014c0048t0003 | a0014c0048t0003g0052 | 1 | 28 | 0.0357 | 16 | c.164 others(33): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215087487 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0068 | a0001c0068t0003 | a0001c0068t0003g0016 | 1 | 14 | 0.0714 | 16 | c.164 others(35): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134548 | G | GTATGTAT others(9): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0022 | a0001c0022t0019 | a0001c0022t0019g0014 | 1 | 170 | 0.0059 | 16 | c.69+ others(31): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48225109 | G | GTGCCTGC others(9): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01192.hp1 HG01981.hp1 others(19): Show |
a0001a0002a0005others(14): Show | a0001c0001a0002c0002a0005c0007others(16): Show | a0001c0001t0001a0002c0002t0004a0005c0007t0003others(16): Show | a0001c0001t0001g0133 a0002c0002t0004g0106 a0002c0002t0004g0142 others(19): Show |
22 | 101 | 0.2178 | 16 | c.469 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225135 | G | GCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01993.hp2 HG02071.hp2 others(6): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0103a0002c0002others(6): Show | a0001c0001t0001a0001c0103t0006a0002c0002t0001others(6): Show | a0001c0001t0001g0133 a0001c0103t0006g0059 a0002c0002t0001g0131 others(6): Show |
9 | 57 | 0.1579 | 16 | c.469 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03834.hp2 NA18987.hp2 |
a0001a0022 | a0001c0001a0001c0010a0022c0030 | a0001c0001t0002a0001c0010t0002a0022c0030t0003 | a0001c0001t0002g0058 a0001c0010t0002g0075 a0022c0030t0003g0038 |
3 | 5 | 0.6000 | 16 | c.764 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330365 | C | CCATCCAT others(9): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0115 | 1 | 176 | 0.0057 | 16 | c.100 others(37): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48358238 | A | AGGGGAGG others(9): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0082 | a0082c0062 | a0082c0062t0003 | a0082c0062t0003g0143 | 1 | 175 | 0.0057 | 16 | c.106 others(37): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48401744 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01123.hp1 others(11): Show |
a0001a0003a0006others(6): Show | a0001c0010a0003c0003a0006c0005others(7): Show | a0001c0010t0002a0003c0003t0004a0006c0005t0003others(8): Show | a0001c0010t0002g0075 a0003c0003t0004g0028 a0003c0003t0004g0029 others(11): Show |
14 | 89 | 0.1573 | 16 | c.118 others(37): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48633904 | G | GTAGATAG others(9): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0074 | a0074c0036 | a0074c0036t0007 | a0074c0036t0007g0083 | 1 | 176 | 0.0057 | 16 | c.148 others(37): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48633931 | C | CATAGATA others(9): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18992.hp1 |
a0005a0009 | a0005c0007a0009c0017 | a0005c0007t0002a0009c0017t0002 | a0005c0007t0002g0129 a0009c0017t0002g0052 |
2 | 113 | 0.0177 | 16 | c.148 others(37): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01975.hp1 HG01993.hp1 others(12): Show |
a0003a0006a0007others(10): Show | a0003c0004a0006c0005a0007c0011others(10): Show | a0003c0004t0004a0006c0005t0003a0007c0011t0003others(10): Show | a0003c0004t0004g0030 a0006c0005t0003g0087 a0007c0011t0003g0055 others(12): Show |
15 | 67 | 0.2239 | 16 | c.148 others(37): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48637388 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0073 | a0073c0078 | a0073c0078t0003 | a0073c0078t0003g0169 | 1 | 176 | 0.0057 | 16 | c.148 others(37): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104799394 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18982.hp2 NA19030.hp1 |
a0004a0005a0016 | a0004c0066a0005c0014a0016c0019 | a0004c0066t0008a0005c0014t0006a0016c0019t0006 | a0004c0066t0008g0008 a0005c0014t0006g0049 a0016c0019t0006g0162 |
3 | 14 | 0.2143 | 16 | c.494 others(33): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0012 | a0012c0055 | a0012c0055t0001 | a0012c0055t0001g0172 | 1 | 21 | 0.0476 | 16 | c.421 others(32): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104896711 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0037 | a0002c0037t0001 | a0002c0037t0001g0189 | 1 | 46 | 0.0217 | 16 | c.66+ others(31): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137018145 | T | TCCTCCAG others(9): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0051 | 1 | 318 | 0.0031 | 16 | c.199 others(31): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 14/48 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2289961 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0104 |
2 | 38 | 0.0526 | 16 | c.251 others(33): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94012786 | G | GCAACGAT others(9): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0187 | 1 | 304 | 0.0033 | 16 | c.546 others(35): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116966 | T | TTGTCTTT others(9): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 269 | 0.0037 | 16 | c.67- others(31): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116968 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02040.hp2 HG02559.hp2 others(7): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(4): Show | a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0004t0001g0044 others(7): Show |
10 | 150 | 0.0667 | 16 | c.67- others(31): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69252016 | A | ACTTTTAT others(9): Show |
intron_variant | MODIFIER | HG01070.hp2 NA18948.hp1 NA19012.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0018 | a0001c0002t0001g0120 a0001c0002t0001g0214 a0001c0006t0018g0093 |
3 | 222 | 0.0135 | 16 | c.441 others(33): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0343 | 1 | 17 | 0.0588 | 16 | c.331 others(35): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69273447 | C | CTATTTAT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(100): Show |
a0001a0002a0007others(5): Show | a0001c0002a0001c0004a0001c0013others(7): Show | a0001c0002t0001a0001c0004t0014a0001c0004t0027others(14): Show | a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0058 others(100): Show |
103 | 120 | 0.8583 | 16 | c.276 others(33): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69288719 | G | GAAGAAAG others(9): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0338 a0005c0007t0006g0341 a0005c0007t0006g0343 others(1): Show |
4 | 22 | 0.1818 | 16 | c.190 others(33): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 14/38 | chr17 | TogoVar |