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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA10_chr17_69143007_69233824 | 69227114 | G | GAT | intron_variant | MODIFIER | HG00099.hp2 HG01257.hp1 HG01258.hp2 others(11): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0015others(6): Show | a0001c0001t0002a0001c0001t0017a0002c0002t0001others(7): Show | a0001c0001t0002g0147 a0001c0001t0017g0329 a0002c0002t0001g0141 others(10): Show |
14 | 217 | 0.0645 | 2 | c.-17 others(17): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 2/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69230418 | T | TCA | upstream_gene_variant | MODIFIER | HG02015.hp1 NA18943.hp1 NA18974.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0003 | a0001c0001t0002g0269 a0001c0001t0002g0284 a0001c0001t0002g0285 others(4): Show |
7 | 346 | 0.0202 | 2 | c.-21 others(13): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1595 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69232779 | G | GTA | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02083.hp1 NA18948.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0002g0110 a0002c0002t0001g0099 a0003c0003t0001g0086 others(5): Show |
8 | 346 | 0.0231 | 2 | c.-45 others(13): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 3956 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214931084 | C | CAT | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01975.hp2 HG02109.hp1 others(30): Show |
a0001a0002a0003others(6): Show | a0001c0010a0001c0012a0001c0015others(17): Show | a0001c0010t0002a0001c0010t0004a0001c0010t0009others(23): Show | a0001c0010t0002g0168 a0001c0010t0004g0114 a0001c0010t0009g0001 others(30): Show |
33 | 96 | 0.3438 | 2 | c.*15 others(13): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 457 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214936938 | G | GAA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(35): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(13): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(35): Show |
38 | 163 | 0.2331 | 2 | c.754 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 51/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214944873 | G | GTA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(63): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(33): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(63): Show |
66 | 195 | 0.3385 | 2 | c.734 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 49/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214949357 | A | AAT | intron_variant | MODIFIER | HG02129.hp1 HG02451.hp2 HG02523.hp2 others(6): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0006a0001c0015others(3): Show | a0001c0001t0002a0001c0006t0002a0001c0015t0007others(4): Show | a0001c0001t0002g0117 a0001c0006t0002g0127 a0001c0015t0007g0009 others(6): Show |
9 | 194 | 0.0464 | 2 | c.685 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214949375 | T | TAC | intron_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG02109.hp2 others(7): Show |
a0001a0002a0004 | a0001c0009a0001c0010a0001c0023others(5): Show | a0001c0009t0003a0001c0010t0004a0001c0023t0003others(5): Show | a0001c0009t0003g0157 a0001c0010t0004g0113 a0001c0010t0004g0114 others(7): Show |
10 | 168 | 0.0595 | 2 | c.685 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214949377 | T | TAC | intron_variant | MODIFIER | HG03540.hp1 NA18906.hp2 |
a0001a0003 | a0001c0001a0003c0065 | a0001c0001t0013a0003c0065t0001 | a0001c0001t0013g0044 a0003c0065t0001g0104 |
2 | 120 | 0.0167 | 2 | c.685 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950372 | G | GTA | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG02055.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0016a0001c0022a0001c0032others(5): Show | a0001c0016t0005a0001c0022t0006a0001c0022t0019others(7): Show | a0001c0016t0005g0063 a0001c0022t0006g0112 a0001c0022t0019g0014 others(10): Show |
13 | 196 | 0.0663 | 2 | c.685 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950384 | C | CTG | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00741.hp2 others(39): Show |
a0001a0003a0011others(4): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0002t0011a0001c0003t0001others(14): Show | a0001c0002t0001g0027 a0001c0002t0001g0055 a0001c0002t0001g0058 others(39): Show |
42 | 119 | 0.3529 | 2 | c.685 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950510 | A | ATT | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG01070.hp1 others(45): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(24): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(45): Show |
48 | 54 | 0.8889 | 2 | c.685 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214951208 | T | TGA | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02647.hp2 others(6): Show |
a0001a0002a0003 | a0001c0045a0001c0051a0002c0008others(1): Show | a0001c0045t0004a0001c0051t0004a0002c0008t0004others(2): Show | a0001c0045t0004g0067 a0001c0051t0004g0076 a0002c0008t0004g0021 others(6): Show |
9 | 196 | 0.0459 | 2 | c.664 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 44/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214977880 | C | CTT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(45): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0020others(24): Show | a0001c0001t0002g0035 a0001c0001t0002g0059 a0001c0001t0002g0066 others(45): Show |
48 | 169 | 0.2840 | 2 | c.512 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 33/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214992462 | G | GAA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01258.hp2 others(8): Show |
a0001a0006a0013others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0002g0025 a0001c0001t0002g0116 a0001c0002t0001g0027 others(8): Show |
11 | 30 | 0.3667 | 2 | c.329 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 23/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215011865 | G | GTT | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02559.hp1 others(14): Show |
a0001a0002 | a0001c0012a0001c0015a0001c0022others(3): Show | a0001c0012t0004a0001c0012t0014a0001c0015t0007others(7): Show | a0001c0012t0004g0039 a0001c0012t0004g0064 a0001c0012t0014g0015 others(14): Show |
17 | 59 | 0.2881 | 2 | c.212 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 16/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CAA | intron_variant | MODIFIER | HG01070.hp2 HG02559.hp2 HG02572.hp1 others(8): Show |
a0001a0002a0008 | a0001c0005a0001c0010a0001c0012others(6): Show | a0001c0005t0005a0001c0010t0002a0001c0010t0004others(7): Show | a0001c0005t0005g0167 a0001c0010t0002g0168 a0001c0010t0004g0113 others(8): Show |
11 | 29 | 0.3793 | 2 | c.178 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215041551 | C | CAA | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG02895.hp2 others(2): Show |
a0002a0015 | a0002c0007a0002c0056a0002c0058others(1): Show | a0002c0007t0003a0002c0056t0004a0002c0058t0002others(1): Show | a0002c0007t0003g0017 a0002c0007t0003g0069 a0002c0056t0004g0020 others(2): Show |
5 | 146 | 0.0342 | 2 | c.872 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215048540 | C | CAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00735.hp1 others(46): Show |
a0001a0005a0011others(3): Show | a0001c0001a0001c0003a0001c0006others(17): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0006others(27): Show | a0001c0001t0002g0059 a0001c0003t0001g0031 a0001c0003t0001g0033 others(46): Show |
49 | 134 | 0.3657 | 2 | c.693 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 6/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215051609 | A | AGT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00741.hp2 others(36): Show |
a0001a0005a0011others(1): Show | a0001c0003a0001c0006a0001c0009others(11): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(19): Show | a0001c0003t0001g0031 a0001c0003t0001g0036 a0001c0003t0001g0038 others(36): Show |
39 | 41 | 0.9512 | 2 | c.507 others(17): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215051684 | G | GGA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00735.hp1 others(53): Show |
a0001a0005a0011others(4): Show | a0001c0003a0001c0006a0001c0009others(18): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(32): Show | a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0036 others(53): Show |
56 | 195 | 0.2872 | 2 | c.507 others(17): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215052615 | C | CCA | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02055.hp2 others(22): Show |
a0001a0003a0004others(3): Show | a0001c0068a0003c0014a0003c0020others(12): Show | a0001c0068t0003a0003c0014t0002a0003c0014t0006others(17): Show | a0001c0068t0003g0016 a0003c0014t0002g0101 a0003c0014t0006g0098 others(22): Show |
25 | 196 | 0.1276 | 2 | c.410 others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 4/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215057595 | T | TTC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(141): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(54): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(85): Show | a0001c0001t0002g0025 a0001c0001t0002g0059 a0001c0001t0002g0066 others(141): Show |
144 | 196 | 0.7347 | 2 | c.318 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 3/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215064693 | G | GCA | intron_variant | MODIFIER | HG00423.hp1 HG02258.hp2 HG03490.hp2 others(3): Show |
a0001a0010 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0012a0001c0004t0010a0001c0009t0008others(2): Show | a0001c0001t0012g0192 a0001c0004t0010g0198 a0001c0009t0008g0189 others(3): Show |
6 | 72 | 0.0833 | 2 | c.164 others(17): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215065297 | T | TAA | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01106.hp1 others(17): Show |
a0001a0015 | a0001c0003a0001c0006a0001c0009others(7): Show | a0001c0003t0001a0001c0003t0011a0001c0006t0002others(10): Show | a0001c0003t0001g0031 a0001c0003t0001g0036 a0001c0003t0001g0166 others(17): Show |
20 | 47 | 0.4255 | 2 | c.164 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215081478 | C | CAA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(14): Show |
a0002a0003a0004others(1): Show | a0002c0008a0002c0017a0003c0014others(6): Show | a0002c0008t0007a0002c0017t0016a0003c0014t0002others(9): Show | a0002c0008t0007g0011 a0002c0017t0016g0179 a0002c0017t0016g0180 others(14): Show |
17 | 192 | 0.0885 | 2 | c.164 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215081495 | A | AAG | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00735.hp1 others(53): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(35): Show | a0001c0001t0002g0066 a0001c0002t0001g0141 a0001c0002t0001g0156 others(53): Show |
56 | 66 | 0.8485 | 2 | c.164 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215082043 | C | CTT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(62): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(32): Show | a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0116 others(62): Show |
65 | 73 | 0.8904 | 2 | c.164 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215087487 | C | CGT | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02615.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0010a0001c0022others(5): Show | a0001c0001t0012a0001c0010t0004a0001c0022t0019others(5): Show | a0001c0001t0012g0192 a0001c0010t0004g0113 a0001c0010t0004g0114 others(7): Show |
10 | 23 | 0.4348 | 2 | c.164 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215102028 | C | CGT | intron_variant | MODIFIER | HG00140.hp2 HG01123.hp2 HG01255.hp2 others(35): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(26): Show | a0001c0001t0002g0025 a0001c0001t0012g0192 a0001c0001t0013g0044 others(35): Show |
38 | 194 | 0.1959 | 2 | c.163 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215103263 | C | CTT | intron_variant | MODIFIER | HG01884.hp1 HG01975.hp2 HG02109.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0010others(10): Show | a0001c0001t0012a0001c0005t0003a0001c0005t0005others(12): Show | a0001c0001t0012g0192 a0001c0005t0003g0077 a0001c0005t0005g0075 others(14): Show |
17 | 172 | 0.0988 | 2 | c.163 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215103267 | C | CTT | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp1 HG02074.hp2 others(4): Show |
a0001a0002a0013others(1): Show | a0001c0002a0001c0003a0001c0033others(4): Show | a0001c0002t0001a0001c0003t0006a0001c0033t0026others(4): Show | a0001c0002t0001g0161 a0001c0003t0006g0048 a0001c0033t0026g0193 others(4): Show |
7 | 37 | 0.1892 | 2 | c.163 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215105578 | G | GAC | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG02723.hp2 others(8): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0002t0024a0001c0004t0001others(7): Show | a0001c0001t0002g0032 a0001c0001t0002g0116 a0001c0002t0024g0178 others(8): Show |
11 | 188 | 0.0585 | 2 | c.163 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215105601 | G | GCA | intron_variant | MODIFIER | HG01934.hp1 HG02155.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0092 a0001c0004t0003g0062 |
2 | 132 | 0.0152 | 2 | c.163 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215105603 | A | ACG | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0010a0001c0022a0002c0007others(7): Show | a0001c0010t0002a0001c0010t0004a0001c0022t0006others(9): Show | a0001c0010t0002g0168 a0001c0010t0004g0113 a0001c0010t0004g0114 others(15): Show |
18 | 194 | 0.0928 | 2 | c.163 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215106748 | C | CAA | intron_variant | MODIFIER | HG01884.hp1 HG02155.hp1 HG02723.hp1 others(8): Show |
a0001a0002 | a0001c0004a0001c0012a0001c0015others(4): Show | a0001c0004t0001a0001c0012t0004a0001c0012t0014others(6): Show | a0001c0004t0001g0115 a0001c0012t0004g0039 a0001c0012t0004g0064 others(8): Show |
11 | 136 | 0.0809 | 2 | c.163 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215112333 | A | ATT | intron_variant | MODIFIER | HG00438.hp1 HG01243.hp1 HG02129.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0011others(8): Show | a0001c0001t0002g0117 a0001c0002t0001g0141 a0001c0002t0011g0165 others(10): Show |
13 | 128 | 0.1016 | 2 | c.70- others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215119733 | G | GGT | intron_variant | MODIFIER | HG01975.hp2 HG02280.hp1 HG02486.hp2 others(2): Show |
a0001a0002 | a0001c0005a0001c0051a0002c0027others(1): Show | a0001c0005t0003a0001c0051t0004a0002c0027t0003others(1): Show | a0001c0005t0003g0077 a0001c0051t0004g0076 a0002c0027t0003g0073 others(2): Show |
5 | 196 | 0.0255 | 2 | c.70- others(17): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215130236 | A | ATT | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02132.hp1 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0009others(9): Show | a0001c0001t0012a0001c0004t0010a0001c0009t0008others(10): Show | a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0004t0010g0198 others(12): Show |
15 | 151 | 0.0993 | 2 | c.69+ others(17): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215131700 | T | TCG | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0002 | a0002c0017 | a0002c0017t0016 | a0002c0017t0016g0179 a0002c0017t0016g0180 |
2 | 175 | 0.0114 | 2 | c.69+ others(17): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215133149 | A | ATT | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01346.hp1 others(5): Show |
a0001a0005a0013others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0011others(5): Show | a0001c0001t0002g0140 a0001c0002t0001g0163 a0001c0003t0011g0139 others(5): Show |
8 | 37 | 0.2162 | 2 | c.69+ others(17): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134407 | T | TAC | intron_variant | MODIFIER | HG02647.hp2 HG02896.hp1 HG03139.hp2 others(2): Show |
a0001a0002a0017 | a0001c0045a0002c0007a0002c0057others(1): Show | a0001c0045t0004a0002c0007t0006a0002c0057t0006others(1): Show | a0001c0045t0004g0067 a0002c0007t0006g0175 a0002c0007t0006g0176 others(2): Show |
5 | 193 | 0.0259 | 2 | c.69+ others(17): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134577 | A | ATC | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01258.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0020a0001c0002t0001others(7): Show | a0001c0001t0002g0025 a0001c0001t0002g0116 a0001c0001t0020g0155 others(8): Show |
11 | 179 | 0.0615 | 2 | c.69+ others(17): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134616 | T | TAG | intron_variant | MODIFIER | HG02922.hp1 HG03130.hp2 |
a0001a0007 | a0001c0012a0007c0019 | a0001c0012t0014a0007c0019t0001 | a0001c0012t0014g0097 a0007c0019t0001g0096 |
2 | 143 | 0.0140 | 2 | c.69+ others(17): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215138559 | G | GAA | 5_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02132.hp1 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0009others(9): Show | a0001c0001t0012a0001c0004t0010a0001c0009t0008others(10): Show | a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0004t0010g0198 others(12): Show |
15 | 177 | 0.0847 | 2 | c.-35 others(11): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/53 | 352 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215139849 | C | CAA | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01975.hp2 HG02109.hp1 others(21): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(15): Show | a0001c0001t0012a0001c0004t0010a0001c0005t0003others(17): Show | a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0004t0010g0198 others(21): Show |
24 | 190 | 0.1263 | 2 | c.-16 others(13): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1224 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215142546 | C | CTT | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01975.hp2 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(24): Show | a0001c0001t0012a0001c0002t0001a0001c0004t0001others(28): Show | a0001c0001t0012g0191 a0001c0002t0001g0051 a0001c0004t0001g0160 others(38): Show |
41 | 80 | 0.5125 | 2 | c.-43 others(13): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 3921 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48166821 | C | CAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(41): Show |
a0001a0002a0004others(28): Show | a0001c0001a0002c0002a0002c0022others(34): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(37): Show | a0001c0001t0001g0133 a0001c0001t0006g0178 a0002c0002t0001g0131 others(41): Show |
44 | 142 | 0.3099 | 2 | c.-46 others(13): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4636 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48172797 | C | CAA | intron_variant | MODIFIER | HG02723.hp1 HG02965.hp1 HG03579.hp1 others(2): Show |
a0007a0013a0014others(2): Show | a0007c0102a0013c0006a0014c0076others(2): Show | a0007c0102t0001a0013c0006t0001a0014c0076t0001others(2): Show | a0007c0102t0001g0020 a0013c0006t0001g0002 a0014c0076t0001g0021 others(2): Show |
5 | 10 | 0.5000 | 2 | c.69+ others(17): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48181557 | C | CAT | intron_variant | MODIFIER | HG00408.hp2 NA19062.hp2 |
a0002a0011 | a0002c0022a0011c0031 | a0002c0022t0002a0011c0031t0003 | a0002c0022t0002g0124 a0011c0031t0003g0118 |
2 | 163 | 0.0123 | 2 | c.69+ others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | chr7 | TogoVar |