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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA4_chr1_93987834_94126148 | 94057108 | T | TA | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01943.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0028others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0028t0001others(2): Show | a0001c0001t0001g0201 a0001c0001t0001g0224 a0002c0002t0001g0002 others(4): Show |
8 | 304 | 0.0263 | 1 | c.216 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 14/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94061940 | G | GC | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00639.hp2 others(95): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0004others(46): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(46): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0060 others(92): Show |
98 | 304 | 0.3224 | 1 | c.193 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 13/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94065173 | C | CA | intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 HG03453.hp1 |
a0003a0007a0043 | a0003c0061a0007c0037a0043c0036 | a0003c0061t0001a0007c0037t0001a0043c0036t0003 | a0003c0061t0001g0029 a0007c0037t0001g0049 a0043c0036t0003g0050 |
3 | 304 | 0.0099 | 1 | c.155 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94073831 | A | AG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(191): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0003a0001c0004others(75): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(76): Show | a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0047 others(187): Show |
194 | 304 | 0.6382 | 1 | c.155 others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94075352 | T | TA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(24): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0141 others(24): Show |
27 | 304 | 0.0888 | 1 | c.155 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94076570 | A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(66): Show |
a0002a0005a0013others(14): Show | a0002c0002a0002c0010a0002c0028others(24): Show | a0002c0002t0001a0002c0010t0001a0002c0028t0001others(24): Show | a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0017 others(63): Show |
69 | 304 | 0.2270 | 1 | c.155 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94078579 | A | AC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(229): Show |
a0001a0002a0003others(39): Show | a0001c0001a0001c0003a0001c0004others(87): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(89): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0030 others(224): Show |
232 | 304 | 0.7632 | 1 | c.135 others(8): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 10/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94079993 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00738.hp2 others(22): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(12): Show | a0001c0001t0001g0013 a0001c0001t0001g0070 a0001c0001t0001g0073 others(21): Show |
25 | 100 | 0.2500 | 1 | c.109 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 8/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94089470 | A | AT | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01943.hp2 others(13): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0235 a0001c0001t0001g0267 a0001c0003t0001g0279 others(13): Show |
16 | 239 | 0.0669 | 1 | c.769 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94093655 | G | GC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(234): Show |
a0001a0002a0003others(41): Show | a0001c0001a0001c0003a0001c0004others(91): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(93): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0030 others(229): Show |
237 | 304 | 0.7796 | 1 | c.768 others(18): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94095749 | G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(141): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0003a0001c0004others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(65): Show | a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0060 others(139): Show |
144 | 281 | 0.5125 | 1 | c.768 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94114488 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(69): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0003a0001c0004others(36): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(36): Show | a0001c0001t0001g0127 a0001c0001t0001g0235 a0001c0001t0001g0238 others(67): Show |
72 | 302 | 0.2384 | 1 | c.67- others(8): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69252016 | A | AT | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(8): Show |
a0001a0002a0015 | a0001c0004a0002c0001a0015c0019 | a0001c0004t0005a0002c0001t0002a0002c0001t0011others(1): Show | a0001c0004t0005g0017 a0001c0004t0005g0323 a0001c0004t0005g0324 others(8): Show |
11 | 230 | 0.0478 | 1 | c.441 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69252178 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(116): Show |
a0001a0012a0013 | a0001c0002a0001c0006a0001c0008others(5): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(11): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(115): Show |
119 | 348 | 0.3420 | 1 | c.441 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69252836 | C | CA | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01175.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0022a0002c0001others(2): Show | a0001c0004t0003a0001c0004t0017a0001c0004t0026others(9): Show | a0001c0004t0003g0165 a0001c0004t0003g0330 a0001c0004t0003g0335 others(30): Show |
34 | 229 | 0.1485 | 1 | c.441 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69257353 | C | CA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01884.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0001a0003c0003others(2): Show | a0001c0002t0001a0002c0001t0002a0003c0003t0003others(3): Show | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0102 others(9): Show |
12 | 343 | 0.0350 | 1 | c.373 others(10): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 28/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG01975.hp1 HG02273.hp2 others(5): Show |
a0002a0007 | a0002c0001a0007c0011 | a0002c0001t0002a0007c0011t0002 | a0002c0001t0002g0224 a0002c0001t0002g0234 a0002c0001t0002g0240 others(5): Show |
8 | 24 | 0.3333 | 1 | c.331 others(10): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69282783 | A | AG | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0012g0013 |
3 | 348 | 0.0086 | 1 | c.239 others(10): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69282980 | C | CT | intron_variant | MODIFIER | HG00741.hp1 HG01169.hp1 HG01192.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0006a0001c0008others(4): Show | a0001c0002t0001a0001c0006t0001a0001c0006t0007others(5): Show | a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0113 others(28): Show |
31 | 225 | 0.1378 | 1 | c.239 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69283859 | T | TA | intron_variant | MODIFIER | HG00140.hp1 HG01358.hp2 HG01952.hp1 others(12): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0025 | a0002c0001t0002g0210 a0002c0001t0002g0222 a0002c0001t0002g0224 others(12): Show |
15 | 348 | 0.0431 | 1 | c.239 others(8): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69285708 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp1 others(18): Show |
a0002a0003a0008 | a0002c0001a0003c0003a0008c0012 | a0002c0001t0002a0002c0001t0009a0003c0003t0003others(3): Show | a0002c0001t0002g0260 a0002c0001t0009g0258 a0003c0003t0003g0002 others(17): Show |
21 | 347 | 0.0605 | 1 | c.227 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69291186 | G | GT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(112): Show |
a0001a0003a0004others(2): Show | a0001c0002a0001c0006a0001c0008others(6): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(11): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(111): Show |
115 | 347 | 0.3314 | 1 | c.160 others(8): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 12/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TA | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG01928.hp1 others(3): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0005 | a0001c0002t0001a0002c0001t0002a0002c0001t0004others(1): Show | a0001c0002t0001g0044 a0001c0002t0001g0046 a0002c0001t0002g0257 others(3): Show |
6 | 160 | 0.0375 | 1 | c.931 others(8): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | AT | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG03041.hp2 others(2): Show |
a0001a0003a0004 | a0001c0010a0003c0003a0004c0005 | a0001c0010t0010a0003c0003t0015a0004c0005t0029 | a0001c0010t0010g0331 a0001c0010t0010g0334 a0003c0003t0015g0152 others(2): Show |
5 | 241 | 0.0207 | 1 | c.931 others(16): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69315782 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(226): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0006a0001c0008others(14): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(29): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(225): Show |
229 | 339 | 0.6755 | 1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69316592 | T | TA | intron_variant | MODIFIER | HG00642.hp2 HG01934.hp2 HG02145.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0010a0002c0001a0003c0003others(1): Show | a0001c0010t0010a0002c0001t0002a0002c0001t0011others(2): Show | a0001c0010t0010g0333 a0002c0001t0002g0241 a0002c0001t0002g0298 others(7): Show |
10 | 187 | 0.0535 | 1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69317399 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(96): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0006a0001c0008others(8): Show | a0001c0002t0001a0001c0002t0013a0001c0006t0018others(11): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(95): Show |
99 | 153 | 0.6471 | 1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69318575 | T | TA | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG01516.hp1 others(8): Show |
a0001a0002a0013 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0014a0001c0004t0027others(2): Show | a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 others(8): Show |
11 | 348 | 0.0316 | 1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69322363 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01261.hp2 others(11): Show |
a0001a0002a0003 | a0001c0004a0001c0010a0002c0001others(1): Show | a0001c0004t0003a0001c0010t0010a0002c0001t0002others(4): Show | a0001c0004t0003g0337 a0001c0010t0010g0332 a0001c0010t0010g0333 others(11): Show |
14 | 147 | 0.0952 | 1 | c.-16 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69325141 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(106): Show |
a0001a0002a0003others(9): Show | a0001c0004a0002c0001a0003c0003others(9): Show | a0001c0004t0003a0002c0001t0002a0002c0001t0009others(17): Show | a0001c0004t0003g0335 a0001c0004t0003g0336 a0001c0004t0003g0337 others(106): Show |
109 | 139 | 0.7842 | 1 | c.-16 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69325308 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(106): Show |
a0001a0002a0006others(7): Show | a0001c0002a0001c0004a0002c0001others(8): Show | a0001c0002t0001a0001c0004t0003a0002c0001t0002others(16): Show | a0001c0002t0001g0214 a0001c0004t0003g0335 a0001c0004t0003g0336 others(106): Show |
109 | 343 | 0.3178 | 1 | c.-16 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69078210 | G | GT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(115): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0019others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(13): Show | a0001c0001t0001g0161 a0002c0002t0001g0025 a0002c0002t0001g0169 others(102): Show |
118 | 205 | 0.5756 | 1 | c.*76 others(10): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 491 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69084670 | C | CT | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01109.hp1 others(33): Show |
a0002a0003a0005others(5): Show | a0002c0002a0003c0003a0005c0005others(5): Show | a0002c0002t0002a0003c0003t0001a0005c0005t0001others(5): Show | a0002c0002t0002g0254 a0003c0003t0001g0011 a0003c0003t0001g0012 others(27): Show |
36 | 199 | 0.1809 | 1 | c.418 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 32/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69085519 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(133): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(12): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(112): Show |
136 | 307 | 0.4430 | 1 | c.402 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 31/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69091523 | C | CT | intron_variant | MODIFIER | HG02486.hp1 HG02886.hp2 NA18940.hp1 others(3): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0005 | a0002c0002t0002a0004c0004t0002a0005c0005t0002 | a0002c0002t0002g0175 a0002c0002t0002g0187 a0002c0002t0002g0191 others(3): Show |
6 | 321 | 0.0187 | 1 | c.340 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 25/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69098625 | C | CA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01070.hp2 others(20): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0003c0009others(4): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0001others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0040 others(15): Show |
23 | 104 | 0.2212 | 1 | c.301 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69099948 | T | TC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show |
a0001a0002a0007others(10): Show | a0001c0001a0002c0002a0002c0019others(11): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(189): Show |
222 | 324 | 0.6852 | 1 | c.301 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69101595 | C | CA | intron_variant | MODIFIER | HG01516.hp2 HG02135.hp1 HG02145.hp2 others(16): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0006c0007others(4): Show | a0001c0001t0001a0002c0002t0002a0006c0007t0001others(4): Show | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0094 others(12): Show |
19 | 315 | 0.0603 | 1 | c.287 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 21/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69104565 | A | AT | intron_variant | MODIFIER | HG00609.hp1 HG01074.hp1 HG01167.hp2 others(36): Show |
a0004a0005a0008others(2): Show | a0004c0004a0005c0005a0008c0008others(2): Show | a0004c0004t0002a0005c0005t0002a0008c0008t0002others(2): Show | a0004c0004t0002g0006 a0004c0004t0002g0021 a0004c0004t0002g0022 others(29): Show |
39 | 323 | 0.1207 | 1 | c.274 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69106593 | G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
a0001a0002a0003others(19): Show | a0001c0001a0002c0002a0002c0019others(20): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(226): Show |
270 | 297 | 0.9091 | 1 | c.239 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69143833 | G | GA | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02451.hp1 HG03098.hp2 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0224 a0003c0003t0001g0012 a0003c0003t0001g0267 others(2): Show |
6 | 75 | 0.0800 | 1 | c.-21 others(12): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 1939 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69145407 | A | AT | upstream_gene_variant | MODIFIER | HG02040.hp1 HG02145.hp2 HG02970.hp1 others(4): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0013 | a0001c0001t0001a0005c0005t0002a0006c0013t0001 | a0001c0001t0001g0076 a0001c0001t0001g0089 a0005c0005t0002g0007 others(4): Show |
7 | 324 | 0.0216 | 1 | c.-37 others(12): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 3513 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146320 | T | TA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0004others(6): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0002others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(95): Show |
118 | 324 | 0.3642 | 1 | c.-46 others(12): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4426 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146594 | C | CA | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01109.hp1 others(16): Show |
a0001a0003a0011others(1): Show | a0001c0001a0003c0003a0003c0009others(2): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0001others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0052 a0001c0001t0001g0053 others(14): Show |
19 | 323 | 0.0588 | 1 | c.-48 others(12): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4700 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1037969 | C | CT | upstream_gene_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01071.hp2 others(17): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0002c0003others(13): Show | a0001c0001t0003a0001c0002t0002a0002c0003t0001others(13): Show | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(17): Show |
20 | 26 | 0.7692 | 1 | c.-23 others(12): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 2137 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1042416 | A | AC | intron_variant | MODIFIER | HG02145.hp1 NA19079.hp2 |
a0003a0018 | a0003c0004a0018c0007 | a0003c0004t0001a0018c0007t0002 | a0003c0004t0001g0021 a0018c0007t0002g0005 |
2 | 28 | 0.0714 | 1 | c.498 others(7): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1043937 | C | CT | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02970.hp1 others(3): Show |
a0001a0004a0007others(2): Show | a0001c0001a0004c0005a0007c0021others(2): Show | a0001c0001t0003a0004c0005t0002a0007c0021t0001others(2): Show | a0001c0001t0003g0019 a0004c0005t0002g0002 a0004c0005t0002g0003 others(3): Show |
6 | 28 | 0.2143 | 1 | c.104 others(9): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1046749 | A | AG | intron_variant | MODIFIER | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(3): Show |
a0001a0003a0017 | a0001c0001a0003c0004a0017c0014 | a0001c0001t0003a0003c0004t0001a0017c0014t0002 | a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 others(3): Show |
6 | 27 | 0.2222 | 1 | c.162 others(8): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1048808 | C | CA | intron_variant | MODIFIER | HG01071.hp1 HG02071.hp2 HG02145.hp1 others(4): Show |
a0001a0003a0009others(2): Show | a0001c0001a0003c0004a0009c0010others(2): Show | a0001c0001t0003a0003c0004t0001a0009c0010t0001others(2): Show | a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 others(4): Show |
7 | 25 | 0.2800 | 1 | c.227 others(8): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049491 | C | CT | intron_variant | MODIFIER | NA20805.hp1 NA20805.hp2 NA20905.hp1 others(1): Show |
a0002a0019 | a0002c0003a0002c0009a0019c0013 | a0002c0003t0001a0002c0009t0001a0019c0013t0002 | a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(1): Show |
4 | 23 | 0.1739 | 1 | c.255 others(16): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar |