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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABAT_chr16_8669617_8789570 | 8711722 | G | GGATGATG others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(166): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0031 a0001c0001t0001g0068 a0001c0001t0001g0070 others(166): Show |
169 | 293 | 0.5768 | 14 | c.-41 others(33): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8723809 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG03688.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0004a0002c0007 | a0001c0003t0003a0002c0004t0003a0002c0004t0007others(1): Show | a0001c0003t0003g0355 a0002c0004t0003g0174 a0002c0004t0007g0342 others(1): Show |
4 | 311 | 0.0129 | 14 | c.-41 others(33): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8723827 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0237 | 1 | 120 | 0.0083 | 14 | c.-41 others(33): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743423 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02602.hp2 HG04204.hp1 others(1): Show |
a0002 | a0002c0002a0002c0005a0002c0006 | a0002c0002t0002a0002c0005t0004a0002c0006t0001 | a0002c0002t0002g0358 a0002c0005t0004g0183 a0002c0006t0001g0176 others(1): Show |
4 | 277 | 0.0144 | 14 | c.71- others(29): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8773105 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00735.hp1 others(26): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004others(1): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0015others(11): Show | a0001c0003t0002g0170 a0001c0003t0003g0073 a0001c0003t0003g0084 others(26): Show |
29 | 56 | 0.5179 | 14 | c.954 others(29): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146347 | T | TATATGGA others(7): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0017 | a0017c0030 | a0017c0030t0001 | a0017c0030t0001g0260 | 1 | 346 | 0.0029 | 14 | c.*24 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1659 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG03471.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0003c0003t0016 | a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 others(1): Show |
4 | 160 | 0.0250 | 14 | c.336 others(33): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210170 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0006 | a0006c0007 | a0006c0007t0010 | a0006c0007t0010g0337 | 1 | 176 | 0.0057 | 14 | c.100 others(33): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210847 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0009 | a0009c0010 | a0009c0010t0006 | a0009c0010t0006g0138 | 1 | 244 | 0.0041 | 14 | c.100 others(33): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69227114 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00639.hp2 others(48): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0034a0002c0002others(7): Show | a0001c0001t0002a0001c0034t0002a0002c0002t0001others(7): Show | a0001c0001t0002g0029 a0001c0001t0002g0075 a0001c0001t0002g0076 others(47): Show |
51 | 254 | 0.2008 | 14 | c.-17 others(29): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 2/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 25 | 0.0400 | 14 | c.382 others(31): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0119 |
2 | 20 | 0.1000 | 14 | c.178 others(31): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215020292 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0027 | a0002c0027t0003 | a0002c0027t0003g0073 | 1 | 115 | 0.0087 | 14 | c.128 others(31): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 11/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215051609 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01074.hp2 HG02109.hp2 others(7): Show |
a0001a0016 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0001others(5): Show | a0001c0001t0002g0122 a0001c0002t0001g0027 a0001c0002t0001g0163 others(7): Show |
10 | 12 | 0.8333 | 14 | c.507 others(29): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 |
a0043a0048 | a0043c0039a0048c0090 | a0043c0039t0001a0048c0090t0005 | a0043c0039t0001g0003 a0048c0090t0005g0104 |
2 | 4 | 0.5000 | 14 | c.764 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48309033 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG02897.hp2 HG04204.hp2 NA19074.hp1 |
a0001a0008a0060 | a0001c0001a0008c0013a0060c0111 | a0001c0001t0001a0008c0013t0002a0060c0111t0006 | a0001c0001t0001g0063 a0008c0013t0002g0089 a0060c0111t0006g0031 |
3 | 15 | 0.2000 | 14 | c.932 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48401744 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00735.hp1 others(3): Show |
a0002a0004a0005others(2): Show | a0002c0022a0004c0008a0005c0007others(2): Show | a0002c0022t0002a0004c0008t0001a0005c0007t0003others(2): Show | a0002c0022t0002g0124 a0004c0008t0001g0148 a0005c0007t0003g0121 others(3): Show |
6 | 81 | 0.0741 | 14 | c.118 others(35): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411049 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0005 | a0005c0023 | a0005c0023t0003 | a0005c0023t0003g0138 | 1 | 172 | 0.0058 | 14 | c.122 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411050 | T | TCTTTCTT others(7): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0110 | 1 | 137 | 0.0073 | 14 | c.122 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48563832 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0063 | a0063c0087 | a0063c0087t0002 | a0063c0087t0002g0153 | 1 | 95 | 0.0105 | 14 | c.143 others(37): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02071.hp1 HG02895.hp1 others(11): Show |
a0001a0004a0005others(8): Show | a0001c0103a0004c0079a0005c0007others(10): Show | a0001c0103t0006a0004c0079t0006a0005c0007t0003others(10): Show | a0001c0103t0006g0059 a0004c0079t0006g0147 a0005c0007t0003g0121 others(11): Show |
14 | 66 | 0.2121 | 14 | c.148 others(35): 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(7): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01261.hp1 HG01517.hp2 others(15): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0011a0002c0031others(10): Show | a0001c0001t0001a0002c0011t0004a0002c0011t0012others(11): Show | a0001c0001t0001g0078 a0001c0001t0001g0231 a0002c0011t0004g0113 others(15): Show |
18 | 29 | 0.6207 | 14 | c.494 others(31): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0213 | 1 | 21 | 0.0476 | 14 | c.421 others(30): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104888058 | G | GGTGGGTG others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(12): Show |
a0002a0004a0005others(4): Show | a0002c0017a0002c0057a0002c0081others(9): Show | a0002c0017t0026a0002c0057t0001a0002c0081t0013others(11): Show | a0002c0017t0026g0190 a0002c0057t0001g0151 a0002c0081t0013g0191 others(12): Show |
15 | 195 | 0.0769 | 14 | c.160 others(31): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104909654 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0082 | a0005c0082t0002 | a0005c0082t0002g0196 | 1 | 143 | 0.0070 | 14 | c.-92 others(31): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137003531 | G | GCAGTGGC others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(214): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(134): Show |
217 | 318 | 0.6824 | 14 | c.*43 others(25): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3702 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2289961 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 37 | 0.0270 | 14 | c.251 others(31): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116999 | T | TTTCTTTC others(7): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 304 | 0.0033 | 14 | c.67- others(29): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02723.hp1 |
a0001a0005 | a0001c0010a0005c0007 | a0001c0010t0010a0005c0007t0006 | a0001c0010t0010g0332 a0005c0007t0006g0338 |
2 | 18 | 0.1111 | 14 | c.331 others(33): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293833 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0026 | 1 | 249 | 0.0040 | 14 | c.149 others(31): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298314 | G | GGAAGGAA others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01928.hp1 HG01934.hp2 others(8): Show |
a0002a0008a0014 | a0002c0001a0008c0012a0014c0023 | a0002c0001t0002a0002c0001t0025a0008c0012t0002others(1): Show | a0002c0001t0002g0216 a0002c0001t0002g0237 a0002c0001t0002g0249 others(8): Show |
11 | 247 | 0.0445 | 14 | c.126 others(31): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69299471 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01070.hp2 others(15): Show |
a0001 | a0001c0002a0001c0004a0001c0010 | a0001c0002t0001a0001c0004t0014a0001c0004t0027others(1): Show | a0001c0002t0001g0046 a0001c0002t0001g0054 a0001c0002t0001g0058 others(15): Show |
18 | 89 | 0.2022 | 14 | c.126 others(33): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 237 | 0.0042 | 14 | c.931 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303861 | T | TATATACA others(7): Show |
intron_variant | MODIFIER | HG01952.hp2 HG01975.hp1 HG01978.hp1 others(4): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0240 a0002c0001t0002g0292 a0002c0001t0002g0302 others(4): Show |
7 | 224 | 0.0313 | 14 | c.930 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303861 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(90): Show |
a0002a0007a0008others(4): Show | a0002c0001a0007c0011a0008c0012others(4): Show | a0002c0001t0002a0002c0001t0004a0002c0001t0009others(11): Show | a0002c0001t0002g0014 a0002c0001t0002g0015 a0002c0001t0002g0210 others(90): Show |
93 | 310 | 0.3000 | 14 | c.930 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69086486 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02818.hp2 HG03130.hp2 others(2): Show |
a0002a0012 | a0002c0002a0012c0024 | a0002c0002t0002a0012c0024t0002 | a0002c0002t0002g0197 a0002c0002t0002g0226 a0002c0002t0002g0242 others(2): Show |
5 | 48 | 0.1042 | 14 | c.393 others(31): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146347 | T | TATATGGA others(7): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02970.hp1 HG02970.hp2 |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0006c0013t0001 | a0001c0001t0001g0089 a0006c0013t0001g0163 a0006c0013t0001g0246 |
3 | 324 | 0.0093 | 14 | c.-46 others(25): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4453 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1048496 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0004 | 1 | 23 | 0.0435 | 14 | c.227 others(31): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1061390 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0010 | a0010c0008 | a0010c0008t0002 | a0010c0008t0002g0014 | 1 | 23 | 0.0435 | 14 | c.546 others(31): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68862565 | C | CCACACAC others(7): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 HG03491.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0179 a0001c0005t0001g0143 |
2 | 130 | 0.0154 | 14 | c.*55 others(25): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 4723 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887881 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0026 | a0026c0018 | a0026c0018t0001 | a0026c0018t0001g0234 | 1 | 246 | 0.0041 | 14 | c.314 others(31): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0006others(4): Show | a0001c0001t0001a0001c0004t0001a0002c0006t0001others(5): Show | a0001c0001t0001g0117 a0001c0004t0001g0127 a0002c0006t0001g0001 others(7): Show |
11 | 98 | 0.1122 | 14 | c.314 others(31): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887913 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0032 | a0032c0021 | a0032c0021t0001 | a0032c0021t0001g0140 | 1 | 266 | 0.0038 | 14 | c.314 others(31): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68922194 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 41 | 0.0244 | 14 | c.150 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935262 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0151 | 1 | 26 | 0.0385 | 14 | c.466 others(31): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935540 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01167.hp1 others(35): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(13): Show | a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0034 others(34): Show |
38 | 128 | 0.2969 | 14 | c.466 others(31): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944316 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18962.hp2 NA19063.hp2 |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0002t0001a0004c0007t0001 | a0001c0001t0001g0177 a0001c0002t0001g0241 a0004c0007t0001g0263 |
3 | 152 | 0.0197 | 14 | c.-5- others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01071.hp1 NA18612.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0161 |
3 | 171 | 0.0175 | 14 | c.-5- others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 169 | 0.0059 | 14 | c.-5- others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68956352 | T | TACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02922.hp1 HG03225.hp1 others(1): Show |
a0001a0002a0009others(1): Show | a0001c0002a0002c0022a0009c0010others(1): Show | a0001c0002t0001a0002c0022t0001a0009c0010t0001others(1): Show | a0001c0002t0001g0126 a0002c0022t0001g0135 a0009c0010t0001g0122 others(1): Show |
4 | 54 | 0.0741 | 14 | c.-13 others(25): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 961 | chr17 | TogoVar |