regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 2330319 | ATT | A | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(36): Show |
a0001a0006a0009 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0188a0001c0001t0002g0191a0001c0001t0002g0192others(36): Show | 39 | 252 | 0.1548 | -2 | c.-53 others(19): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2330697 | CTT | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(10): Show |
a0001a0012 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(4): Show | a0001c0001t0001g0143a0001c0001t0002g0217a0001c0004t0001g0225others(10): Show | 13 | 252 | 0.0516 | -2 | c.-53 others(19): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | ||||||
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 | a0001c0001t0008g0178a0001c0003t0002g0190a0001c0005t0001g0042others(2): Show | 5 | 252 | 0.0198 | -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 | a0001c0001t0001g0003a0001c0001t0001g0075a0001c0001t0001g0094others(24): Show | 27 | 306 | 0.0882 | -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(71): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0003a0001c0005others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(34): Show | a0001c0001t0001g0027a0001c0001t0001g0060a0001c0001t0001g0082others(71): Show | 74 | 306 | 0.2418 | -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(23): Show |
a0001a0002a0003others(8): Show | a0001c0004a0001c0005a0001c0055others(13): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(14): Show | a0001c0004t0001g0036a0001c0004t0001g0091a0001c0004t0001g0195others(23): Show | 26 | 306 | 0.0850 | -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 | a0001c0001t0001g0075a0001c0001t0001g0099a0001c0001t0001g0132others(29): Show | 32 | 306 | 0.1046 | -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 | a0001c0001t0001g0056a0001c0001t0001g0074a0001c0001t0001g0086others(63): Show | 67 | 306 | 0.2190 | -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 | a0001c0001t0001g0105a0001c0001t0001g0110a0001c0003t0001g0034others(8): Show | 11 | 306 | 0.0360 | -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(114): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0003a0001c0004others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(41): Show | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0001g0057others(113): Show | 117 | 306 | 0.3824 | -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 | a0001c0001t0001g0003a0001c0001t0001g0027a0001c0001t0001g0106others(23): Show | 28 | 306 | 0.0915 | -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 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0099others(58): Show | 61 | 306 | 0.1994 | -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 | a0001c0006t0001g0039a0003c0061t0001g0032a0004c0035t0002g0052others(3): Show | 6 | 306 | 0.0196 | -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 | a0001c0001t0001g0132a0001c0001t0001g0173a0001c0001t0001g0202others(44): Show | 47 | 306 | 0.1536 | -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 | a0001c0003t0001g0279a0001c0003t0001g0283a0001c0085t0002g0278 | 3 | 306 | 0.0098 | -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 |
a0001a0003a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(6): Show | a0001c0001t0001g0196a0001c0001t0001g0198a0001c0001t0001g0200others(13): Show | 16 | 306 | 0.0523 | -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(16): Show |
a0001a0002a0004others(1): Show | a0001c0004a0002c0001a0004c0005others(1): Show | a0001c0004t0005a0002c0001t0004a0004c0005t0003others(1): Show | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(16): Show | 19 | 350 | 0.0543 | -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(26): Show |
a0002a0012 | a0002c0001a0002c0016a0012c0020 | a0002c0001t0004a0002c0001t0008a0002c0001t0022others(2): Show | a0002c0001t0004g0003a0002c0001t0004g0169a0002c0001t0004g0170others(25): Show | 29 | 350 | 0.0829 | -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(161): Show |
a0001a0002a0003others(9): Show | a0001c0004a0002c0001a0002c0016others(10): Show | a0001c0004t0003a0002c0001t0002a0002c0001t0004others(23): Show | a0001c0004t0003g0331a0002c0001t0002g0013a0002c0001t0002g0014others(160): Show | 164 | 350 | 0.4686 | -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 | a0005c0007t0006g0339a0005c0007t0006g0340a0005c0007t0006g0341others(5): Show | 8 | 350 | 0.0229 | -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 | a0001c0004t0003g0331a0001c0004t0017g0323a0005c0007t0006g0339others(7): Show | 10 | 350 | 0.0286 | -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 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(12): Show | 15 | 350 | 0.0429 | -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 | a0001c0022t0003g0315a0003c0003t0003g0044a0004c0005t0030g0208 | 3 | 350 | 0.0086 | -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 | a0001c0002t0001g0055a0001c0002t0001g0057a0001c0002t0001g0071others(22): Show | 25 | 350 | 0.0714 | -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 | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012 | 3 | 350 | 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(25): Show |
a0002a0012 | a0002c0001a0002c0016a0012c0020 | a0002c0001t0002a0002c0001t0004a0002c0001t0008others(3): Show | a0002c0001t0002g0314a0002c0001t0004g0003a0002c0001t0004g0169others(24): Show | 28 | 350 | 0.0800 | -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 | a0005c0007t0006g0339a0005c0007t0006g0340a0005c0007t0006g0341others(5): Show | 8 | 350 | 0.0229 | -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 | a0001c0002t0001g0066a0001c0002t0001g0067a0001c0002t0001g0068others(22): Show | 26 | 350 | 0.0743 | -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 | a0001c0002t0001g0215a0001c0004t0014g0321a0001c0004t0027g0320others(19): Show | 22 | 350 | 0.0629 | -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(27): Show |
a0001a0002a0012 | a0001c0002a0002c0001a0002c0016others(1): Show | a0001c0002t0001a0002c0001t0004a0002c0001t0008others(3): Show | a0001c0002t0001g0158a0002c0001t0004g0003a0002c0001t0004g0169others(26): Show | 30 | 350 | 0.0857 | -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 | a0001c0001t0001g0121a0002c0002t0002g0178a0002c0002t0002g0191others(51): Show | 65 | 326 | 0.1994 | -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 | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0072others(11): Show | 14 | 326 | 0.0429 | -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 | a0003c0009t0001g0169a0003c0009t0001g0170a0003c0009t0001g0261others(8): Show | 15 | 326 | 0.0460 | -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(115): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0002c0002t0002a0004c0004t0002others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(96): Show | 118 | 326 | 0.3620 | -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 |
a0003a0016a0017others(1): Show | a0003c0003a0016c0020a0017c0022others(1): Show | a0003c0003t0001a0016c0020t0001a0017c0022t0001others(1): Show | a0003c0003t0001g0010a0003c0003t0001g0011a0003c0003t0001g0029others(17): Show | 22 | 326 | 0.0675 | -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 | a0001c0001t0001g0089a0002c0002t0001g0227a0002c0002t0002g0256others(5): Show | 8 | 326 | 0.0245 | -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 | a0001c0001t0001g0089a0006c0013t0001g0165a0006c0013t0001g0249 | 3 | 326 | 0.0092 | -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 | a0001c0001t0001g0111a0003c0003t0001g0011a0003c0003t0001g0270others(41): Show | 50 | 326 | 0.1534 | -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(119): Show |
a0001a0003a0004others(7): Show | a0001c0001a0003c0003a0004c0004others(7): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0002others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(101): Show | 122 | 326 | 0.3742 | -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(123): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(106): Show | 126 | 326 | 0.3865 | -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 |
a0002a0014 | a0002c0003a0002c0009a0014c0019 | a0002c0003t0001a0002c0009t0001a0014c0019t0002 | a0002c0003t0001g0009a0002c0009t0001g0008a0014c0019t0002g0029 | 3 | 30 | 0.1000 | -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 |
a0004a0008a0012 | a0004c0008a0008c0040a0012c0055 | a0004c0008t0001a0008c0040t0001a0012c0055t0001 | a0004c0008t0001g0125a0008c0040t0001g0121a0012c0055t0001g0131 | 3 | 274 | 0.0110 | -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(109): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0013others(109): Show | 112 | 274 | 0.4088 | -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 |
a0001a0003a0008others(1): Show | a0001c0002a0003c0033a0008c0039others(1): Show | a0001c0002t0001a0003c0033t0001a0008c0039t0001others(1): Show | a0001c0002t0001g0027a0001c0002t0001g0036a0001c0002t0001g0040others(6): Show | 9 | 274 | 0.0329 | -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 |
a0001a0002a0008 | a0001c0002a0002c0046a0008c0039 | a0001c0002t0001a0002c0046t0001a0008c0039t0001 | a0001c0002t0001g0027a0001c0002t0001g0036a0001c0002t0001g0040others(5): Show | 8 | 274 | 0.0292 | -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 |
a0004a0008a0012 | a0004c0008a0008c0040a0012c0055 | a0004c0008t0001a0008c0040t0001a0012c0055t0001 | a0004c0008t0001g0125a0008c0040t0001g0121a0012c0055t0001g0131 | 3 | 274 | 0.0110 | -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 |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(9): Show | a0001c0001t0001g0078a0001c0001t0001g0198a0001c0004t0001g0048others(12): Show | 15 | 274 | 0.0547 | -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 |
a0002a0004a0005 | a0002c0006a0004c0008a0005c0009 | a0002c0006t0001a0004c0008t0001a0004c0008t0005others(1): Show | a0002c0006t0001g0001a0002c0006t0001g0094a0004c0008t0001g0153others(5): Show | 9 | 274 | 0.0329 | -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 |
a0001a0004a0008 | a0001c0002a0004c0008a0008c0040 | a0001c0002t0001a0004c0008t0001a0008c0040t0001 | a0001c0002t0001g0005a0004c0008t0001g0125a0008c0040t0001g0121 | 3 | 274 | 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 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0129others(28): Show | 31 | 274 | 0.1131 | -2 | c.213 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 17/39 | chr17 | TogoVar |