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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA3_chr16_2270881_2345728 | 2336597 | ATT | A | intron_variant | MODIFIER | HG02258.hp2 HG02897.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0008a0001c0003t0002a0001c0005t0001others(1): Show | a0001c0001t0008g0178 a0001c0003t0002g0190 a0001c0005t0001g0042 others(2): Show |
5 | 100 | 0.0500 | -2 | c.-53 others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93988605 | GGT | G | downstream_gene_variant | MODIFIER | HG01071.hp1 HG01109.hp2 HG01169.hp1 others(24): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0009others(12): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0064 a0001c0001t0001g0068 others(24): Show |
27 | 303 | 0.0891 | -2 | c.*46 others(13): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 4228 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93988609 | TGG | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(70): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0003a0001c0005others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(34): Show | a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0001g0100 others(70): Show |
73 | 159 | 0.4591 | -2 | c.*46 others(13): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 4224 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94013332 | AAG | A | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01109.hp1 others(22): Show |
a0001a0002a0003others(8): Show | a0001c0004a0001c0005a0001c0055others(13): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(14): Show | a0001c0004t0001g0044 a0001c0004t0001g0048 a0001c0004t0001g0187 others(22): Show |
25 | 304 | 0.0822 | -2 | c.546 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94019019 | GTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG01081.hp2 others(29): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0006others(16): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(16): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0127 others(29): Show |
32 | 216 | 0.1481 | -2 | c.519 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 36/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94021729 | AAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(64): Show |
a0001a0002a0005others(10): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(17): Show | a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0067 others(63): Show |
67 | 304 | 0.2204 | -2 | c.477 others(17): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 33/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94042098 | CAA | C | intron_variant | MODIFIER | HG01928.hp1 HG01943.hp1 HG01943.hp2 others(8): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(6): Show | a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0003t0001g0107 others(8): Show |
11 | 34 | 0.3235 | -2 | c.332 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 22/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94046280 | TAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(113): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0003a0001c0004others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(41): Show | a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0056 others(112): Show |
116 | 273 | 0.4249 | -2 | c.291 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94046303 | AAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00642.hp2 others(25): Show |
a0001a0002a0009others(7): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0060 others(23): Show |
28 | 304 | 0.0921 | -2 | c.291 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94048297 | TAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(58): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(15): Show | a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0086 others(58): Show |
61 | 304 | 0.2007 | -2 | c.274 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 18/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94079993 | CAA | C | intron_variant | MODIFIER | HG02886.hp1 HG03041.hp2 HG03130.hp1 others(3): Show |
a0001a0003a0004others(3): Show | a0001c0006a0003c0061a0004c0035others(3): Show | a0001c0006t0001a0003c0061t0001a0004c0035t0002others(3): Show | a0001c0006t0001g0033 a0003c0061t0001g0029 a0004c0035t0002g0051 others(3): Show |
6 | 81 | 0.0741 | -2 | c.109 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 8/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94091579 | TCA | T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00621.hp2 others(44): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0003a0001c0004others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(28): Show | a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0196 others(44): Show |
47 | 80 | 0.5875 | -2 | c.768 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94112020 | TAA | T | intron_variant | MODIFIER | NA18983.hp2 NA19009.hp1 NA19055.hp1 |
a0001 | a0001c0003a0001c0085 | a0001c0003t0001a0001c0085t0002 | a0001c0003t0001g0276 a0001c0003t0001g0278 a0001c0085t0002g0277 |
3 | 302 | 0.0099 | -2 | c.161 others(17): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 2/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116966 | TTC | T | intron_variant | MODIFIER | HG00408.hp2 HG01258.hp1 HG01346.hp2 others(13): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(6): Show | a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0198 others(13): Show |
16 | 284 | 0.0563 | -2 | c.67- others(17): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69266571 | AAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01099.hp1 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0004a0002c0001a0004c0005others(1): Show | a0001c0004t0005a0002c0001t0004a0004c0005t0003others(1): Show | a0001c0004t0005g0017 a0001c0004t0005g0323 a0001c0004t0005g0324 others(15): Show |
18 | 231 | 0.0779 | -2 | c.314 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 23/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69266804 | ATG | A | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01192.hp1 others(25): Show |
a0002a0011 | a0002c0001a0002c0016a0011c0020 | a0002c0001t0004a0002c0001t0008a0002c0001t0022others(2): Show | a0002c0001t0004g0004 a0002c0001t0004g0167 a0002c0001t0004g0168 others(24): Show |
28 | 348 | 0.0805 | -2 | c.314 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 23/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69274839 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(160): Show |
a0001a0002a0003others(9): Show | a0001c0004a0002c0001a0002c0016others(10): Show | a0001c0004t0003a0002c0001t0002a0002c0001t0004others(23): Show | a0001c0004t0003g0330 a0002c0001t0002g0014 a0002c0001t0002g0015 others(158): Show |
163 | 182 | 0.8956 | -2 | c.259 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69274916 | TCA | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0338 a0005c0007t0006g0339 a0005c0007t0006g0340 others(5): Show |
8 | 348 | 0.0230 | -2 | c.259 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69278212 | GAA | G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(7): Show |
a0001a0005 | a0001c0004a0005c0007 | a0001c0004t0003a0001c0004t0017a0005c0007t0006 | a0001c0004t0003g0330 a0001c0004t0017g0322 a0005c0007t0006g0338 others(7): Show |
10 | 348 | 0.0287 | -2 | c.239 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69283752 | GAT | G | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(12): Show |
a0001 | a0001c0004a0001c0010 | a0001c0004t0005a0001c0004t0014a0001c0004t0027others(1): Show | a0001c0004t0005g0017 a0001c0004t0005g0323 a0001c0004t0005g0324 others(12): Show |
15 | 348 | 0.0431 | -2 | c.239 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293833 | GGT | G | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 NA19043.hp2 |
a0001a0003a0004 | a0001c0022a0003c0003a0004c0005 | a0001c0022t0003a0003c0003t0003a0004c0005t0030 | a0001c0022t0003g0314 a0003c0003t0003g0043 a0004c0005t0030g0207 |
3 | 251 | 0.0120 | -2 | c.149 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293871 | TGC | T | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01071.hp2 others(22): Show |
a0001a0005 | a0001c0002a0001c0006a0001c0017others(1): Show | a0001c0002t0001a0001c0006t0001a0001c0017t0001others(1): Show | a0001c0002t0001g0054 a0001c0002t0001g0058 a0001c0002t0001g0070 others(22): Show |
25 | 343 | 0.0729 | -2 | c.149 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69294237 | CAG | C | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0012g0013 |
3 | 348 | 0.0086 | -2 | c.149 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303843 | TAC | T | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01192.hp1 others(24): Show |
a0002a0011 | a0002c0001a0002c0016a0011c0020 | a0002c0001t0002a0002c0001t0004a0002c0001t0008others(3): Show | a0002c0001t0002g0313 a0002c0001t0004g0004 a0002c0001t0004g0167 others(23): Show |
27 | 347 | 0.0778 | -2 | c.930 others(17): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69310725 | CAT | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0338 a0005c0007t0006g0339 a0005c0007t0006g0340 others(5): Show |
8 | 348 | 0.0230 | -2 | c.308 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 3/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69316592 | TAA | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(23): Show |
a0001a0002a0005 | a0001c0002a0001c0008a0002c0001others(1): Show | a0001c0002t0001a0001c0008t0001a0002c0001t0004others(1): Show | a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 others(22): Show |
26 | 203 | 0.1281 | -2 | c.-15 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69317399 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01070.hp2 others(19): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0014a0001c0004t0027others(3): Show | a0001c0002t0001g0214 a0001c0004t0014g0320 a0001c0004t0027g0319 others(19): Show |
22 | 76 | 0.2895 | -2 | c.-15 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69318114 | ATT | A | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01192.hp1 others(26): Show |
a0001a0002a0011 | a0001c0002a0002c0001a0002c0016others(1): Show | a0001c0002t0001a0002c0001t0004a0002c0001t0008others(3): Show | a0001c0002t0001g0157 a0002c0001t0004g0004 a0002c0001t0004g0167 others(25): Show |
29 | 124 | 0.2339 | -2 | c.-15 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69082328 | AAC | A | intron_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG01069.hp1 others(62): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(8): Show | a0001c0001t0001g0119 a0002c0002t0002g0176 a0002c0002t0002g0189 others(51): Show |
65 | 158 | 0.4114 | -2 | c.461 others(19): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 36/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69086486 | AAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01074.hp2 others(11): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0010others(2): Show | a0001c0001t0001a0002c0002t0002a0006c0010t0001others(2): Show | a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 others(11): Show |
14 | 57 | 0.2456 | -2 | c.393 others(19): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69097390 | CAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show |
a0003a0006 | a0003c0009a0006c0007a0006c0010 | a0003c0009t0001a0006c0007t0001a0006c0010t0001 | a0003c0009t0001g0167 a0003c0009t0001g0168 a0003c0009t0001g0258 others(8): Show |
15 | 276 | 0.0543 | -2 | c.312 others(19): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 23/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69104662 | AAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(114): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0002c0002t0002a0004c0004t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(95): Show |
117 | 324 | 0.3611 | -2 | c.274 others(19): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146153 | TAA | T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01361.hp1 others(19): Show |
a0003a0014a0018others(1): Show | a0003c0003a0014c0021a0018c0022others(1): Show | a0003c0003t0001a0014c0021t0001a0018c0022t0001others(1): Show | a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0030 others(17): Show |
22 | 324 | 0.0679 | -2 | c.-44 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4259 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146237 | AAT | A | upstream_gene_variant | MODIFIER | HG01346.hp1 HG01891.hp1 HG02145.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0009others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0089 a0002c0002t0001g0224 a0002c0002t0002g0253 others(5): Show |
8 | 322 | 0.0248 | -2 | c.-45 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4343 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146279 | TAC | T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02970.hp1 HG02970.hp2 |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0006c0013t0001 | a0001c0001t0001g0089 a0006c0013t0001g0163 a0006c0013t0001g0246 |
3 | 323 | 0.0093 | -2 | c.-45 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4385 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146294 | TAC | T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG01070.hp1 others(47): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0004others(6): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0002others(6): Show | a0001c0001t0001g0111 a0003c0003t0001g0012 a0003c0003t0001g0267 others(41): Show |
50 | 324 | 0.1543 | -2 | c.-45 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4400 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146299 | AAT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(118): Show |
a0001a0003a0004others(7): Show | a0001c0001a0003c0003a0004c0004others(7): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0002others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(98): Show |
121 | 324 | 0.3735 | -2 | c.-46 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4405 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146410 | AAT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(122): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(103): Show |
125 | 311 | 0.4019 | -2 | c.-47 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4516 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1048191 | TAA | T | intron_variant | MODIFIER | HG02071.hp1 NA20805.hp1 NA20805.hp2 |
a0002a0006 | a0002c0003a0002c0009a0006c0019 | a0002c0003t0001a0002c0009t0001a0006c0019t0002 | a0002c0003t0001g0009 a0002c0009t0001g0008 a0006c0019t0002g0029 |
3 | 13 | 0.2308 | -2 | c.226 others(19): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68887881 | CAT | C | intron_variant | MODIFIER | HG02572.hp1 HG03516.hp1 NA18522.hp1 |
a0003a0007a0017 | a0003c0008a0007c0040a0017c0055 | a0003c0008t0001a0007c0040t0001a0017c0055t0001 | a0003c0008t0001g0124 a0007c0040t0001g0120 a0017c0055t0001g0130 |
3 | 248 | 0.0121 | -2 | c.314 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887955 | GAT | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(108): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 others(108): Show |
111 | 272 | 0.4081 | -2 | c.314 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887971 | CAT | C | intron_variant | MODIFIER | HG00438.hp1 HG02129.hp2 HG02683.hp2 others(6): Show |
a0001a0004a0007others(1): Show | a0001c0002a0004c0033a0007c0039others(1): Show | a0001c0002t0001a0004c0033t0001a0007c0039t0001others(1): Show | a0001c0002t0001g0015 a0001c0002t0001g0024 a0001c0002t0001g0029 others(6): Show |
9 | 272 | 0.0331 | -2 | c.314 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887987 | TAC | T | intron_variant | MODIFIER | HG00438.hp1 HG02683.hp2 HG02896.hp1 others(5): Show |
a0001a0002a0007 | a0001c0002a0002c0046a0007c0039 | a0001c0002t0001a0002c0046t0001a0007c0039t0001 | a0001c0002t0001g0015 a0001c0002t0001g0024 a0001c0002t0001g0029 others(5): Show |
8 | 272 | 0.0294 | -2 | c.314 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68888090 | TAC | T | intron_variant | MODIFIER | HG02572.hp1 HG03516.hp1 NA18522.hp1 |
a0003a0007a0017 | a0003c0008a0007c0040a0017c0055 | a0003c0008t0001a0007c0040t0001a0017c0055t0001 | a0003c0008t0001g0124 a0007c0040t0001g0120 a0017c0055t0001g0130 |
3 | 260 | 0.0115 | -2 | c.314 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68900538 | CAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02818.hp2 others(12): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(9): Show | a0001c0001t0001g0079 a0001c0001t0001g0197 a0001c0004t0001g0049 others(12): Show |
15 | 37 | 0.4054 | -2 | c.276 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 21/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68901137 | CTG | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(6): Show |
a0002a0003a0005 | a0002c0006a0003c0008a0005c0009 | a0002c0006t0001a0003c0008t0001a0003c0008t0005others(1): Show | a0002c0006t0001g0001 a0002c0006t0001g0095 a0003c0008t0001g0151 others(4): Show |
9 | 272 | 0.0331 | -2 | c.276 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 21/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68906350 | CAT | C | intron_variant | MODIFIER | HG01099.hp2 HG03516.hp1 NA18522.hp1 |
a0001a0003a0007 | a0001c0002a0003c0008a0007c0040 | a0001c0002t0001a0003c0008t0001a0007c0040t0001 | a0001c0002t0001g0006 a0003c0008t0001g0124 a0007c0040t0001g0120 |
3 | 272 | 0.0110 | -2 | c.227 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 18/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68911734 | TAC | T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02129.hp2 others(28): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(14): Show | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0128 others(28): Show |
31 | 122 | 0.2541 | -2 | c.213 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 17/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935262 | TTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(55): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(54): Show |
58 | 83 | 0.6988 | -2 | c.466 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935540 | CTA | C | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG02965.hp1 others(1): Show |
a0009a0018a0020 | a0009c0010a0018c0057a0020c0056 | a0009c0010t0001a0018c0057t0004a0020c0056t0001 | a0009c0010t0001g0131 a0009c0010t0001g0132 a0018c0057t0004g0133 others(1): Show |
4 | 94 | 0.0426 | -2 | c.466 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar |