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 | 69195554 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(92): Show |
a0001a0004a0010others(5): Show | a0001c0001a0001c0034a0001c0035others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(12): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0015 others(90): Show |
95 | 107 | 0.8879 | 1 | c.123 others(10): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69197781 | A | AT | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG03098.hp2 others(3): Show |
a0008 | a0008c0009 | a0008c0009t0009 | a0008c0009t0009g0005 a0008c0009t0009g0201 a0008c0009t0009g0227 others(2): Show |
6 | 346 | 0.0173 | 1 | c.117 others(9): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 10/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69201793 | A | AT | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01167.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 a0002c0002t0001g0049 a0002c0002t0001g0051 others(3): Show |
6 | 317 | 0.0189 | 1 | c.100 others(9): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69208417 | C | CA | intron_variant | MODIFIER | HG01123.hp2 HG03130.hp1 NA18943.hp2 others(5): Show |
a0001a0011 | a0001c0001a0001c0035a0011c0012 | a0001c0001t0002a0001c0035t0002a0011c0012t0008 | a0001c0001t0002g0043 a0001c0001t0002g0147 a0001c0001t0002g0159 others(5): Show |
8 | 108 | 0.0741 | 1 | c.100 others(10): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69209718 | G | GA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(188): Show |
a0002a0003a0005others(14): Show | a0002c0002a0002c0015a0003c0003others(19): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(25): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(182): Show |
191 | 346 | 0.5520 | 1 | c.100 others(10): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210170 | C | CT | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG01070.hp2 others(71): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(11): Show | a0001c0001t0002g0001 a0001c0001t0002g0031 a0001c0001t0002g0038 others(69): Show |
74 | 249 | 0.2972 | 1 | c.100 others(10): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69222337 | C | CA | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG03098.hp2 others(5): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0002a0008c0009t0009 | a0001c0001t0002g0178 a0001c0001t0002g0299 a0008c0009t0009g0005 others(4): Show |
8 | 163 | 0.0491 | 1 | c.199 others(8): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 4/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69224688 | G | GA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(118): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0034a0002c0002others(11): Show | a0001c0001t0002a0001c0034t0002a0002c0002t0001others(11): Show | a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0038 others(116): Show |
121 | 315 | 0.3841 | 1 | c.34+ others(7): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 3/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214927226 | C | CT | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02486.hp1 others(2): Show |
a0001a0002a0003 | a0001c0012a0001c0033a0002c0056others(1): Show | a0001c0012t0004a0001c0012t0014a0001c0033t0026others(2): Show | a0001c0012t0004g0064 a0001c0012t0014g0015 a0001c0033t0026g0193 others(2): Show |
5 | 33 | 0.1515 | 1 | c.*54 others(12): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 4315 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214929707 | T | TA | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01517.hp1 HG01884.hp2 others(13): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0002a0001c0004t0001a0001c0005t0005others(12): Show | a0001c0001t0002g0059 a0001c0004t0001g0029 a0001c0005t0005g0075 others(13): Show |
16 | 195 | 0.0821 | 1 | c.*29 others(12): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1834 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214932094 | A | AC | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02109.hp2 others(23): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0012others(13): Show | a0001c0001t0013a0001c0010t0004a0001c0012t0004others(15): Show | a0001c0001t0013g0044 a0001c0010t0004g0113 a0001c0010t0004g0114 others(23): Show |
26 | 196 | 0.1327 | 1 | c.*53 others(5): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 53/53 | 539 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214933817 | G | GT | intron_variant | MODIFIER | HG01074.hp2 HG01517.hp1 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0006a0001c0016a0001c0031others(2): Show | a0001c0006t0005a0001c0016t0005a0001c0031t0005others(2): Show | a0001c0006t0005g0152 a0001c0016t0005g0063 a0001c0031t0005g0158 others(3): Show |
6 | 196 | 0.0306 | 1 | c.768 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 52/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214936940 | A | AG | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 |
a0001a0003 | a0001c0033a0003c0020 | a0001c0033t0026a0003c0020t0003 | a0001c0033t0026g0193 a0003c0020t0003g0108 |
2 | 196 | 0.0102 | 1 | c.754 others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 51/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214941781 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(41): Show |
a0001a0003a0009others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(18): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(41): Show |
44 | 196 | 0.2245 | 1 | c.743 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 50/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214944182 | G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(126): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(55): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(82): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(126): Show |
129 | 196 | 0.6582 | 1 | c.734 others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 49/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214944431 | T | TA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(65): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(34): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(65): Show |
68 | 196 | 0.3469 | 1 | c.734 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 49/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950483 | G | GA | 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 | 1 | c.685 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950510 | A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(137): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(47): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0011others(78): Show | a0001c0001t0002g0150 a0001c0002t0001g0027 a0001c0002t0001g0028 others(137): Show |
140 | 146 | 0.9589 | 1 | c.685 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214952057 | C | CA | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02647.hp1 others(4): Show |
a0001a0002a0006others(2): Show | a0001c0025a0001c0044a0002c0056others(4): Show | a0001c0025t0015a0001c0044t0006a0002c0056t0004others(4): Show | a0001c0025t0015g0182 a0001c0044t0006g0022 a0002c0056t0004g0020 others(4): Show |
7 | 195 | 0.0359 | 1 | c.664 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 44/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214952210 | C | CT | 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 | 1 | c.664 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 44/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214963605 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG01346.hp1 HG02074.hp2 others(5): Show |
a0001a0013 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0006others(4): Show | a0001c0002t0001g0161 a0001c0003t0001g0031 a0001c0003t0006g0048 others(5): Show |
8 | 80 | 0.1000 | 1 | c.588 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 39/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214963923 | C | CA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0013a0001c0002t0001a0001c0002t0024others(13): Show | a0001c0001t0013g0044 a0001c0002t0001g0027 a0001c0002t0001g0028 others(20): Show |
23 | 96 | 0.2396 | 1 | c.588 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 39/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214974749 | C | CA | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG03471.hp1 others(5): Show |
a0001a0004a0009others(1): Show | a0001c0015a0004c0018a0004c0059others(2): Show | a0001c0015t0007a0001c0015t0009a0004c0018t0021others(3): Show | a0001c0015t0007g0009 a0001c0015t0007g0013 a0001c0015t0009g0006 others(5): Show |
8 | 196 | 0.0408 | 1 | c.546 others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 35/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214976700 | T | TA | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02572.hp1 others(15): Show |
a0001a0002a0004 | a0001c0003a0001c0005a0001c0010others(5): Show | a0001c0003t0001a0001c0003t0006a0001c0005t0005others(10): Show | a0001c0003t0001g0043 a0001c0003t0006g0048 a0001c0005t0005g0109 others(15): Show |
18 | 196 | 0.0918 | 1 | c.512 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 33/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214977880 | C | CT | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02257.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0022a0001c0032others(7): Show | a0001c0002t0001a0001c0022t0006a0001c0022t0019others(9): Show | a0001c0002t0001g0049 a0001c0022t0006g0112 a0001c0022t0019g0014 others(10): Show |
13 | 134 | 0.0970 | 1 | c.512 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 33/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214981090 | G | GA | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0002a0001c0002t0024a0001c0012t0004others(5): Show | a0001c0001t0002g0140 a0001c0002t0024g0178 a0001c0012t0004g0039 others(7): Show |
10 | 195 | 0.0513 | 1 | c.458 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214981761 | G | GT | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp2 HG01123.hp2 others(35): Show |
a0001a0002a0003others(5): Show | a0001c0005a0001c0009a0001c0010others(16): Show | a0001c0005t0001a0001c0005t0003a0001c0005t0005others(26): Show | a0001c0005t0001g0124 a0001c0005t0001g0145 a0001c0005t0003g0077 others(35): Show |
38 | 79 | 0.4810 | 1 | c.457 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214983950 | G | GA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(37): Show |
a0001a0005a0010others(2): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(12): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(37): Show |
40 | 196 | 0.2041 | 1 | c.416 others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 28/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214992462 | G | GA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(163): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(54): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(91): Show | a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0059 others(163): Show |
166 | 185 | 0.8973 | 1 | c.329 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 23/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214992463 | A | AG | intron_variant | MODIFIER | HG02809.hp2 HG03486.hp1 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0005 | a0001c0005t0001g0145 a0001c0005t0005g0075 |
2 | 196 | 0.0102 | 1 | c.329 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 23/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215003491 | C | CT | intron_variant | MODIFIER | HG03490.hp1 HG03669.hp2 |
a0015a0017 | a0015c0055a0017c0049 | a0015c0055t0010a0017c0049t0001 | a0015c0055t0010g0184 a0017c0049t0001g0068 |
2 | 196 | 0.0102 | 1 | c.268 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 20/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215009465 | T | TA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp2 others(84): Show |
a0001a0002a0003others(8): Show | a0001c0005a0001c0009a0001c0010others(33): Show | a0001c0005t0001a0001c0005t0003a0001c0005t0005others(57): Show | a0001c0005t0001g0124 a0001c0005t0001g0145 a0001c0005t0003g0077 others(84): Show |
87 | 196 | 0.4439 | 1 | c.247 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 18/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215011865 | G | GT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(134): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(78): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0059 others(134): Show |
137 | 179 | 0.7654 | 1 | c.212 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 16/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CA | intron_variant | MODIFIER | HG01071.hp1 HG02647.hp2 HG02818.hp2 others(4): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0005others(4): Show | a0001c0001t0002g0066 a0001c0002t0001g0049 a0001c0005t0005g0110 others(4): Show |
7 | 25 | 0.2800 | 1 | c.178 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215018792 | C | CT | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02559.hp2 others(7): Show |
a0001 | a0001c0012a0001c0015a0001c0022others(1): Show | a0001c0012t0004a0001c0012t0014a0001c0015t0007others(4): Show | a0001c0012t0004g0039 a0001c0012t0004g0064 a0001c0012t0014g0015 others(7): Show |
10 | 196 | 0.0510 | 1 | c.165 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 13/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215021827 | T | TA | intron_variant | MODIFIER | HG02129.hp2 NA19009.hp1 NA19009.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0002 | a0001c0001t0002g0116 a0001c0002t0001g0058 a0001c0002t0001g0061 others(2): Show |
5 | 196 | 0.0255 | 1 | c.128 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 11/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215025600 | G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(186): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0003others(61): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(101): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(186): Show |
189 | 195 | 0.9692 | 1 | c.128 others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 11/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215025607 | T | TG | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02647.hp1 others(3): Show |
a0001a0002 | a0001c0010a0001c0068a0002c0007others(2): Show | a0001c0010t0003a0001c0068t0003a0002c0007t0003others(2): Show | a0001c0010t0003g0143 a0001c0068t0003g0016 a0002c0007t0003g0017 others(3): Show |
6 | 196 | 0.0306 | 1 | c.128 others(16): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 11/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215027355 | G | GA | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01255.hp1 others(25): Show |
a0001a0002a0004others(4): Show | a0001c0005a0001c0009a0001c0012others(13): Show | a0001c0005t0001a0001c0009t0001a0001c0009t0003others(20): Show | a0001c0005t0001g0124 a0001c0009t0001g0136 a0001c0009t0003g0157 others(25): Show |
28 | 196 | 0.1429 | 1 | c.106 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 9/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215029188 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(190): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0003others(61): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(103): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(190): Show |
193 | 196 | 0.9847 | 1 | c.106 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 9/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215030438 | C | CA | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02630.hp2 others(5): Show |
a0001a0002a0006 | a0001c0010a0001c0012a0001c0068others(4): Show | a0001c0010t0003a0001c0012t0014a0001c0068t0003others(4): Show | a0001c0010t0003g0143 a0001c0012t0014g0015 a0001c0068t0003g0016 others(5): Show |
8 | 182 | 0.0440 | 1 | c.106 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 9/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215034439 | G | GA | intron_variant | MODIFIER | HG00741.hp1 HG01517.hp2 HG03492.hp2 |
a0001 | a0001c0002a0001c0050 | a0001c0002t0001a0001c0050t0002 | a0001c0002t0001g0028 a0001c0002t0001g0041 a0001c0050t0002g0057 |
3 | 196 | 0.0153 | 1 | c.985 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 8/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215035664 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01070.hp2 others(11): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0004a0001c0010others(6): Show | a0001c0001t0002a0001c0001t0012a0001c0004t0001others(10): Show | a0001c0001t0002g0032 a0001c0001t0012g0192 a0001c0004t0001g0091 others(11): Show |
14 | 186 | 0.0753 | 1 | c.985 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 8/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215040459 | C | CA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01975.hp2 others(26): Show |
a0002a0008a0015 | a0002c0007a0002c0008a0002c0013others(8): Show | a0002c0007t0002a0002c0007t0003a0002c0007t0004others(16): Show | a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 others(26): Show |
29 | 196 | 0.1480 | 1 | c.873 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215041551 | C | CA | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG02055.hp2 others(12): Show |
a0001a0003a0007 | a0001c0004a0001c0068a0003c0014others(5): Show | a0001c0004t0002a0001c0068t0003a0003c0014t0002others(8): Show | a0001c0004t0002g0138 a0001c0068t0003g0016 a0003c0014t0002g0101 others(12): Show |
15 | 156 | 0.0962 | 1 | c.872 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215044062 | A | AT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(50): Show |
a0002a0003a0004others(5): Show | a0002c0007a0002c0008a0002c0013others(22): Show | a0002c0007t0002a0002c0007t0003a0002c0007t0004others(35): Show | a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 others(50): Show |
53 | 196 | 0.2704 | 1 | c.872 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215047974 | G | GA | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG01258.hp1 others(4): Show |
a0001a0005 | a0001c0002a0001c0011a0001c0016others(1): Show | a0001c0002t0022a0001c0011t0001a0001c0016t0002others(1): Show | a0001c0002t0022g0148 a0001c0011t0001g0085 a0001c0011t0001g0087 others(4): Show |
7 | 143 | 0.0490 | 1 | c.693 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 6/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215048417 | C | CG | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(50): Show |
a0002a0003a0004others(5): Show | a0002c0007a0002c0008a0002c0013others(22): Show | a0002c0007t0002a0002c0007t0003a0002c0007t0004others(35): Show | a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 others(50): Show |
53 | 196 | 0.2704 | 1 | c.693 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 6/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215048540 | C | CA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01255.hp1 others(34): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0012a0001c0003t0002a0001c0006t0002others(24): Show | a0001c0001t0012g0192 a0001c0003t0002g0037 a0001c0006t0002g0127 others(34): Show |
37 | 122 | 0.3033 | 1 | c.693 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 6/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215063628 | C | CT | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01071.hp2 others(41): Show |
a0001a0005a0010others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(16): Show | a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0116 others(41): Show |
44 | 196 | 0.2245 | 1 | c.317 others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 3/52 | chr2 | TogoVar |