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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTT | intron_variant | MODIFIER | HG00558.hp2 HG02258.hp2 HG03540.hp1 others(2): Show |
a0002a0005a0006others(1): Show | a0002c0002a0005c0007a0005c0063others(2): Show | a0002c0002t0004a0005c0007t0003a0005c0063t0001others(2): Show | a0002c0002t0004g0106 a0005c0007t0003g0121 a0005c0063t0001g0010 others(2): Show |
5 | 7 | 0.7143 | 5 | c.764 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48293192 | G | GCCCCA | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp1 others(7): Show |
a0001a0002a0007others(5): Show | a0001c0001a0002c0022a0007c0011others(5): Show | a0001c0001t0004a0002c0022t0004a0007c0011t0007others(6): Show | a0001c0001t0004g0164 a0002c0022t0004g0163 a0007c0011t0007g0165 others(7): Show |
10 | 98 | 0.1020 | 5 | c.895 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48358166 | A | AAGGAC | intron_variant | MODIFIER | HG02895.hp2 HG02970.hp1 NA19043.hp2 |
a0014a0059a0063 | a0014c0076a0059c0059a0063c0087 | a0014c0076t0001a0059c0059t0003a0063c0087t0002 | a0014c0076t0001g0021 a0059c0059t0003g0172 a0063c0087t0002g0153 |
3 | 169 | 0.0178 | 5 | c.106 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48358222 | A | AAGGGG | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG02970.hp1 others(2): Show |
a0002a0007a0032others(2): Show | a0002c0022a0007c0101a0032c0051others(2): Show | a0002c0022t0002a0007c0101t0003a0032c0051t0001others(2): Show | a0002c0022t0002g0124 a0007c0101t0003g0141 a0032c0051t0001g0026 others(2): Show |
5 | 102 | 0.0490 | 5 | c.106 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411291 | C | CTTCTT | intron_variant | MODIFIER | HG00544.hp2 HG01167.hp1 HG01169.hp2 others(13): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0104a0002c0002others(11): Show | a0001c0001t0004a0001c0104t0005a0002c0002t0002others(11): Show | a0001c0001t0004g0049 a0001c0104t0005g0044 a0002c0002t0002g0156 others(13): Show |
16 | 96 | 0.1667 | 5 | c.122 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48463776 | C | CGGAAT | intron_variant | MODIFIER | HG01981.hp2 HG02055.hp2 HG02630.hp2 others(6): Show |
a0003a0040a0052others(5): Show | a0003c0003a0003c0004a0040c0064others(6): Show | a0003c0003t0004a0003c0004t0002a0040c0064t0001others(6): Show | a0003c0003t0004g0029 a0003c0004t0002g0032 a0040c0064t0001g0127 others(6): Show |
9 | 162 | 0.0556 | 5 | c.128 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48565214 | C | CTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02886.hp2 others(6): Show |
a0013a0015a0026others(3): Show | a0013c0006a0015c0047a0026c0027others(3): Show | a0013c0006t0001a0015c0047t0001a0026c0027t0001others(4): Show | a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 others(6): Show |
9 | 53 | 0.1698 | 5 | c.143 others(28): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104801116 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(235): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0005a0001c0035others(89): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(153): Show | a0001c0001t0001g0017 a0001c0001t0001g0056 a0001c0001t0001g0078 others(234): Show |
238 | 239 | 0.9958 | 5 | c.469 others(22): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 34/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01975.hp1 HG02293.hp1 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0005a0003c0002others(2): Show | a0001c0001t0001a0001c0005t0002a0003c0002t0002others(2): Show | a0001c0001t0001g0017 a0001c0005t0002g0018 a0001c0005t0002g0167 others(3): Show |
6 | 26 | 0.2308 | 5 | c.421 others(22): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104896711 | C | CTTTTT | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG02109.hp2 others(7): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0032a0002c0057others(5): Show | a0001c0001t0004a0002c0032t0001a0002c0057t0001others(6): Show | a0001c0001t0004g0021 a0002c0032t0001g0026 a0002c0057t0001g0151 others(7): Show |
10 | 55 | 0.1818 | 5 | c.66+ others(20): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104928373 | T | TGGGTG | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(63): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0005a0001c0035others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(45): Show | a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0083 others(63): Show |
66 | 316 | 0.2089 | 5 | c.-53 others(14): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 219 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104928907 | C | CAAACA | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG00738.hp1 others(85): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0005a0001c0035others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(70): Show | a0001c0001t0001g0017 a0001c0001t0001g0089 a0001c0001t0003g0087 others(85): Show |
88 | 316 | 0.2785 | 5 | c.-10 others(16): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 753 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2290002 | C | CACACA | intron_variant | MODIFIER | HG01515.hp2 NA18959.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0072 a0001c0001t0001g0176 a0001c0001t0013g0248 |
3 | 247 | 0.0121 | 5 | c.251 others(22): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93995107 | C | CCTTTA | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02148.hp1 others(23): Show |
a0003a0004a0005others(9): Show | a0003c0015a0003c0020a0003c0031others(19): Show | a0003c0015t0001a0003c0020t0001a0003c0031t0004others(19): Show | a0003c0015t0001g0184 a0003c0015t0001g0185 a0003c0020t0001g0116 others(23): Show |
26 | 304 | 0.0855 | 5 | c.681 others(24): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 49/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93998713 | A | ATTTAT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00735.hp1 others(22): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(8): Show | a0001c0001t0001g0084 a0001c0001t0001g0137 a0001c0001t0001g0138 others(22): Show |
25 | 237 | 0.1055 | 5 | c.648 others(22): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94028930 | A | AAAAAC | intron_variant | MODIFIER | HG00280.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0007a0002c0010others(3): Show | a0001c0004t0001a0001c0007t0001a0002c0010t0001others(3): Show | a0001c0004t0001g0234 a0001c0007t0001g0154 a0002c0010t0001g0097 others(4): Show |
7 | 172 | 0.0407 | 5 | c.453 others(22): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94046455 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00558.hp1 others(51): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0005others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(21): Show | a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 others(51): Show |
54 | 197 | 0.2741 | 5 | c.291 others(22): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69248697 | C | CTTTTG | intron_variant | MODIFIER | HG02451.hp1 HG02896.hp1 HG03225.hp1 |
a0001a0002 | a0001c0010a0002c0001 | a0001c0010t0010a0002c0001t0004 | a0001c0010t0010g0333 a0002c0001t0004g0004 |
3 | 348 | 0.0086 | 5 | c.476 others(22): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 37/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0001a0013a0016 | a0001c0002a0001c0004a0001c0006others(6): Show | a0001c0002t0001a0001c0002t0020a0001c0004t0003others(10): Show | a0001c0002t0001g0003 a0001c0002t0001g0046 a0001c0002t0001g0047 others(95): Show |
99 | 115 | 0.8609 | 5 | c.331 others(24): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69274839 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(56): Show |
a0001a0012 | a0001c0002a0001c0006a0001c0008others(3): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(8): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(55): Show |
59 | 78 | 0.7564 | 5 | c.259 others(22): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00738.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(3): Show | a0001c0002t0001a0001c0004t0005a0001c0008t0001others(5): Show | a0001c0002t0001g0075 a0001c0002t0001g0097 a0001c0002t0001g0111 others(27): Show |
30 | 184 | 0.1630 | 5 | c.931 others(20): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | AAAAAT | intron_variant | MODIFIER | HG00408.hp2 HG02818.hp1 HG03195.hp2 others(3): Show |
a0002a0006a0009 | a0002c0001a0006c0009a0009c0025 | a0002c0001t0002a0002c0001t0009a0006c0009t0008others(1): Show | a0002c0001t0002g0229 a0002c0001t0002g0250 a0002c0001t0002g0261 others(3): Show |
6 | 242 | 0.0248 | 5 | c.931 others(20): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68871900 | A | ATATAC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(89): Show |
a0001a0004a0008others(6): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(89): Show |
92 | 272 | 0.3382 | 5 | c.463 others(24): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 37/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887925 | T | TGGATA | intron_variant | MODIFIER | HG00544.hp1 HG01346.hp2 HG02071.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0014 | a0001c0001t0001a0001c0003t0001a0006c0014t0001 | a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 others(4): Show |
7 | 32 | 0.2188 | 5 | c.314 others(22): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68893721 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(110): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(17): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 others(110): Show |
113 | 172 | 0.6570 | 5 | c.303 others(22): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 23/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68918930 | C | CAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG02615.hp1 HG02922.hp1 others(15): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0011others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0001t0001g0229 a0001c0003t0001g0064 a0001c0003t0001g0067 others(15): Show |
18 | 180 | 0.1000 | 5 | c.178 others(22): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 14/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68922194 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01074.hp2 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0080 a0001c0001t0001g0163 a0001c0001t0001g0167 others(18): Show |
21 | 61 | 0.3443 | 5 | c.150 others(20): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958591 | A | ATATAT | upstream_gene_variant | MODIFIER | HG00733.hp2 HG02055.hp1 HG02572.hp1 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0011others(7): Show | a0001c0001t0001a0001c0005t0001a0001c0011t0001others(8): Show | a0001c0001t0001g0154 a0001c0005t0001g0137 a0001c0005t0001g0138 others(14): Show |
17 | 151 | 0.1126 | 5 | c.-35 others(16): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3200 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958768 | A | ATATAT | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01346.hp1 HG01496.hp1 others(24): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0003a0003c0008others(12): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(14): Show | a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0154 others(23): Show |
27 | 230 | 0.1174 | 5 | c.-37 others(16): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3377 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69013829 | G | GTACTT | intron_variant | MODIFIER | HG02451.hp1 HG03516.hp1 HG03516.hp2 others(1): Show |
a0003a0013a0018others(1): Show | a0003c0003a0013c0022a0018c0019others(1): Show | a0003c0003t0004a0013c0022t0003a0018c0019t0003others(1): Show | a0003c0003t0004g0022 a0013c0022t0003g0019 a0018c0019t0003g0056 others(1): Show |
4 | 310 | 0.0129 | 5 | c.304 others(24): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69015613 | A | ATAATT | intron_variant | MODIFIER | HG00733.hp1 HG03041.hp2 HG03098.hp1 others(2): Show |
a0008a0010 | a0008c0013a0008c0020a0010c0011 | a0008c0013t0003a0008c0020t0003a0010c0011t0003 | a0008c0013t0003g0057 a0008c0013t0003g0058 a0008c0020t0003g0055 others(2): Show |
5 | 310 | 0.0161 | 5 | c.303 others(22): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69021697 | C | CTTCCT | intron_variant | MODIFIER | HG02451.hp1 HG03516.hp1 HG03516.hp2 |
a0013a0018a0019 | a0013c0022a0018c0019a0019c0023 | a0013c0022t0003a0018c0019t0003a0019c0023t0003 | a0013c0022t0003g0019 a0018c0019t0003g0056 a0019c0023t0003g0018 |
3 | 310 | 0.0097 | 5 | c.240 others(20): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69033303 | C | CAAAAA | intron_variant | MODIFIER | HG01952.hp2 HG02145.hp2 HG02630.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0082 a0001c0001t0001g0249 a0001c0001t0001g0259 others(10): Show |
13 | 45 | 0.2889 | 5 | c.127 others(22): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69036871 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01109.hp2 others(40): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0008a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0009a0001c0008t0001others(7): Show | a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0193 others(38): Show |
43 | 93 | 0.4624 | 5 | c.801 others(22): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229535038 | T | TAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02572.hp2 others(4): Show |
a0001a0002a0004 | a0001c0002a0002c0009a0004c0005 | a0001c0002t0004a0001c0002t0008a0002c0009t0003others(1): Show | a0001c0002t0004g0109 a0001c0002t0004g0110 a0001c0002t0004g0111 others(4): Show |
7 | 96 | 0.0729 | 5 | c.134 others(24): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229550525 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG00741.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0004 a0001c0002t0002g0057 a0001c0002t0002g0093 others(9): Show |
13 | 125 | 0.1040 | 5 | c.518 others(22): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168933748 | T | TTTTTG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(250): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(54): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(87): Show | a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0061 others(247): Show |
253 | 304 | 0.8322 | 5 | c.305 others(24): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 23/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975195 | A | AATATT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(182): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(37): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(65): Show | a0001c0001t0001g0032 a0001c0001t0001g0065 a0001c0001t0001g0066 others(180): Show |
185 | 304 | 0.6086 | 5 | c.130 others(24): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169006556 | G | GATAAA | intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 HG02615.hp2 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(5): Show | a0001c0001t0001g0175 a0001c0002t0002g0176 a0002c0003t0001g0182 others(6): Show |
9 | 230 | 0.0391 | 5 | c.389 others(22): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87513243 | C | CCTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0051 others(251): Show |
261 | 350 | 0.7457 | 5 | c.328 others(24): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 25/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87516731 | C | CTTTTT | intron_variant | MODIFIER | HG02083.hp1 HG02135.hp1 HG02647.hp2 others(5): Show |
a0001a0006a0013 | a0001c0001a0001c0003a0006c0011others(1): Show | a0001c0001t0008a0001c0003t0001a0006c0011t0001others(1): Show | a0001c0001t0008g0098 a0001c0003t0001g0156 a0001c0003t0001g0157 others(5): Show |
8 | 173 | 0.0462 | 5 | c.292 others(20): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 23/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87534917 | T | TAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(69): Show |
a0001a0006a0008others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0063 others(69): Show |
72 | 218 | 0.3303 | 5 | c.248 others(24): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 20/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87548137 | A | AAGGGG | intron_variant | MODIFIER | HG01123.hp1 HG01981.hp1 HG02040.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0004t0002others(3): Show | a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0004g0182 others(8): Show |
11 | 341 | 0.0323 | 5 | c.172 others(24): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 14/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87548152 | A | AAGGGG | intron_variant | MODIFIER | HG01123.hp1 HG01981.hp1 NA18949.hp2 |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0002a0001c0004t0002a0001c0005t0001 | a0001c0001t0002g0240 a0001c0004t0002g0045 a0001c0005t0001g0314 |
3 | 184 | 0.0163 | 5 | c.172 others(24): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 14/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87433669 | G | GTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG01943.hp1 others(1): Show |
a0002 | a0002c0005a0002c0012 | a0002c0005t0001a0002c0012t0001 | a0002c0005t0001g0037 a0002c0005t0001g0038 a0002c0005t0001g0054 others(1): Show |
4 | 277 | 0.0144 | 5 | c.173 others(24): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 14/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87468941 | T | TAAATA | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00738.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0009 | a0001c0001t0001a0001c0003t0001a0002c0009t0001 | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0188 others(7): Show |
14 | 152 | 0.0921 | 5 | c.135 others(22): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20707801 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02572.hp1 others(3): Show |
a0002a0007a0023others(3): Show | a0002c0003a0007c0016a0023c0093others(3): Show | a0002c0003t0003a0007c0016t0003a0023c0093t0001others(3): Show | a0002c0003t0003g0018 a0007c0016t0003g0053 a0023c0093t0001g0081 others(3): Show |
6 | 15 | 0.4000 | 5 | c.242 others(24): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20710381 | A | AAAGGG | intron_variant | MODIFIER | HG00438.hp1 HG01257.hp2 HG02145.hp1 others(8): Show |
a0001a0002a0006others(5): Show | a0001c0001a0002c0012a0006c0007others(6): Show | a0001c0001t0002a0002c0012t0001a0006c0007t0001others(7): Show | a0001c0001t0002g0273 a0002c0012t0001g0092 a0006c0007t0001g0322 others(8): Show |
11 | 198 | 0.0556 | 5 | c.242 others(24): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20726358 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(28): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0002c0003others(18): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0011others(20): Show | a0001c0001t0001g0344 a0001c0005t0001g0139 a0001c0005t0001g0140 others(28): Show |
31 | 57 | 0.5439 | 5 | c.262 others(22): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20749395 | A | ATTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01175.hp1 others(14): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0003a0003c0002others(13): Show | a0001c0001t0002a0002c0003t0007a0003c0002t0002others(13): Show | a0001c0001t0002g0069 a0001c0001t0002g0295 a0002c0003t0007g0037 others(14): Show |
17 | 218 | 0.0780 | 5 | c.343 others(24): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |