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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC4_chr13_95014835_95306451 | 95159093 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG02080.hp2 HG02129.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0002others(11): Show | a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0212 others(14): Show |
17 | 30 | 0.5667 | -8 | c.245 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95164054 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00642.hp1 others(11): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(9): Show | a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0008g0246 others(11): Show |
14 | 234 | 0.0598 | -8 | c.217 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 16/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95176223 | CAGGGGGG others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0009a0001c0025a0001c0045others(1): Show | a0001c0009t0001a0001c0025t0002a0001c0045t0001others(1): Show | a0001c0009t0001g0128 a0001c0025t0002g0075 a0001c0045t0001g0129 others(1): Show |
4 | 138 | 0.0290 | -8 | c.172 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 13/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95196582 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG02976.hp2 HG03540.hp2 HG04204.hp1 others(3): Show |
a0001a0003 | a0001c0003a0001c0007a0001c0010others(3): Show | a0001c0003t0001a0001c0007t0002a0001c0010t0007others(3): Show | a0001c0003t0001g0090 a0001c0007t0002g0226 a0001c0010t0007g0163 others(3): Show |
6 | 62 | 0.0968 | -8 | c.116 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95208608 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001a0001c0022a0001c0049others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0022t0011others(2): Show | a0001c0001t0001g0126 a0001c0001t0001g0181 a0001c0001t0001g0185 others(5): Show |
8 | 41 | 0.1951 | -8 | c.786 others(23): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 6/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95218927 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG02976.hp2 HG03017.hp1 |
a0001a0004a0015 | a0001c0023a0004c0030a0015c0034 | a0001c0023t0006a0004c0030t0002a0015c0034t0001 | a0001c0023t0006g0008 a0004c0030t0002g0069 a0015c0034t0001g0001 |
3 | 210 | 0.0143 | -8 | c.532 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95225147 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00558.hp1 others(13): Show |
a0001a0003a0006 | a0001c0002a0001c0013a0001c0022others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0018others(8): Show | a0001c0002t0001g0160 a0001c0002t0001g0167 a0001c0002t0001g0193 others(13): Show |
16 | 190 | 0.0842 | -8 | c.531 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95225153 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02723.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0003a0001c0007a0001c0010others(3): Show | a0001c0003t0005a0001c0007t0019a0001c0010t0024others(3): Show | a0001c0003t0005g0024 a0001c0007t0019g0026 a0001c0010t0024g0023 others(3): Show |
6 | 218 | 0.0275 | -8 | c.531 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95225757 | CAAATATA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01069.hp2 others(6): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0126 a0001c0001t0001g0181 a0001c0001t0001g0183 others(6): Show |
9 | 246 | 0.0366 | -8 | c.531 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95240531 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(22): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(14): Show | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0192 others(22): Show |
25 | 29 | 0.8621 | -8 | c.307 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95244596 | TGAAAGAA others(1): Show |
T | intron_variant | MODIFIER | HG02083.hp2 HG02280.hp2 HG02615.hp1 others(4): Show |
a0001a0002a0013others(1): Show | a0001c0007a0001c0014a0001c0054others(3): Show | a0001c0007t0002a0001c0014t0007a0001c0054t0003others(4): Show | a0001c0007t0002g0179 a0001c0014t0007g0190 a0001c0054t0003g0131 others(4): Show |
7 | 191 | 0.0366 | -8 | c.306 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95269434 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG02970.hp2 others(4): Show |
a0001a0014 | a0001c0001a0001c0012a0001c0021others(3): Show | a0001c0001t0005a0001c0012t0001a0001c0021t0001others(3): Show | a0001c0001t0005g0044 a0001c0012t0001g0080 a0001c0021t0001g0009 others(4): Show |
7 | 192 | 0.0365 | -8 | c.75- others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95296135 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02922.hp2 HG02965.hp1 others(1): Show |
a0001a0002 | a0001c0040a0001c0042a0001c0068others(1): Show | a0001c0040t0003a0001c0042t0004a0001c0068t0003others(1): Show | a0001c0040t0003g0124 a0001c0042t0004g0040 a0001c0068t0003g0007 others(1): Show |
4 | 200 | 0.0200 | -8 | c.74+ others(23): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95296177 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(40): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(29): Show | a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0220 others(40): Show |
43 | 246 | 0.1748 | -8 | c.74+ others(23): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95302342 | AGTGTGTG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01346.hp2 HG01361.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0001c0049a0001c0051others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0049t0003others(6): Show | a0001c0001t0001g0064 a0001c0001t0002g0066 a0001c0049t0003g0067 others(6): Show |
9 | 49 | 0.1837 | -8 | c.-10 others(19): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 892 | chr13 | TogoVar | |||||||
ABCC5_chr3_183914934_184022884 | 183922035 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG03130.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0005a0001c0016 | a0001c0001t0003a0001c0005t0002a0001c0016t0014 | a0001c0001t0003g0230 a0001c0005t0002g0059 a0001c0016t0014g0267 |
3 | 118 | 0.0254 | -8 | c.421 others(25): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 29/29 | chr3 | TogoVar | |||||||
ABCC5_chr3_183914934_184022884 | 184012014 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00639.hp1 others(91): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0005a0001c0002t0001a0001c0004t0002others(7): Show | a0001c0001t0005g0096 a0001c0002t0001g0001 a0001c0002t0001g0003 others(87): Show |
94 | 166 | 0.5663 | -8 | c.129 others(25): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17450260 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01943.hp1 HG02055.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0074 a0001c0001t0001g0234 a0001c0001t0001g0246 others(10): Show |
13 | 252 | 0.0516 | -8 | c.117 others(27): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17450395 | TTTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00621.hp2 others(67): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(21): Show | a0001c0001t0001g0076 a0001c0001t0001g0173 a0001c0003t0001g0030 others(67): Show |
70 | 328 | 0.2134 | -8 | c.117 others(27): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21816036 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0047 others(14): Show |
17 | 19 | 0.8947 | -8 | c.389 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 33/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21827527 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0130 a0001c0001t0001g0200 a0001c0001t0002g0202 others(2): Show |
5 | 40 | 0.1250 | -8 | c.366 others(27): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21841342 | GTTTCCTT others(1): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG03041.hp2 NA18982.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0065 others(2): Show |
5 | 60 | 0.0833 | -8 | c.347 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 29/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21847687 | ATTCTAAT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(115): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(115): Show |
118 | 210 | 0.5619 | -8 | c.286 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 25/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21896092 | TTTTTTTA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG01884.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0017 a0001c0001t0001g0079 a0001c0001t0001g0130 others(3): Show |
6 | 210 | 0.0286 | -8 | c.161 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 12/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915225 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00639.hp1 others(24): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0026 others(24): Show |
27 | 171 | 0.1579 | -8 | c.816 others(23): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCD2_chr12_39545033_39624803 | 39602127 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00642.hp1 others(71): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0071 a0001c0001t0001g0072 others(54): Show |
74 | 260 | 0.2846 | -8 | c.150 others(27): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 5/9 | chr12 | TogoVar | |||||||
ABCD3_chr1_94413389_94523663 | 94438293 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02451.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0002t0002 | a0001c0001t0001g0007 a0001c0001t0001g0346 a0001c0001t0018g0180 others(1): Show |
4 | 360 | 0.0111 | -8 | c.110 others(27): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94438301 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006 | a0001c0001t0003g0010 a0001c0001t0003g0202 a0001c0001t0003g0208 others(6): Show |
10 | 114 | 0.0877 | -8 | c.110 others(27): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94477227 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0019a0001c0004t0016 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0088 others(3): Show |
6 | 56 | 0.1071 | -8 | c.628 others(25): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74289111 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02630.hp1 HG02738.hp1 others(4): Show |
a0001a0002 | a0001c0004a0002c0002a0002c0009 | a0001c0004t0001a0002c0002t0001a0002c0009t0012 | a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0093 others(4): Show |
7 | 109 | 0.0642 | -8 | c.145 others(25): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 14/18 | chr14 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74306145 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01070.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0149 a0001c0001t0002g0161 others(16): Show |
42 | 281 | 0.1495 | -8 | c.-32 others(19): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3212 | chr14 | TogoVar | |||||||
ABCF3_chr3_184181199_184199005 | 184197845 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG03225.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0023 others(1): Show |
5 | 44 | 0.1136 | -8 | c.*41 others(19): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42243445 | CGCGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01167.hp2 HG01169.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0091 a0001c0001t0001g0263 a0001c0001t0001g0326 others(17): Show |
20 | 278 | 0.0719 | -8 | c.286 others(27): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42264489 | CCATCCAT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(142): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0091 others(139): Show |
145 | 352 | 0.4119 | -8 | c.287 others(25): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119147464 | GGAAAGAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02615.hp1 HG02647.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0012 others(5): Show |
14 | 246 | 0.0569 | -8 | c.-19 others(19): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1587 | chr11 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43828472 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01099.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002 | a0001c0001t0005g0232 a0002c0002t0002g0026 a0002c0002t0002g0164 others(2): Show |
6 | 140 | 0.0429 | -8 | c.502 others(23): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43846988 | GTGCACAC others(1): Show |
G | intron_variant | MODIFIER | HG02083.hp1 HG02300.hp1 HG02809.hp1 others(1): Show |
a0002a0017 | a0002c0003a0002c0026a0017c0019 | a0002c0003t0005a0002c0003t0090a0002c0026t0087others(1): Show | a0002c0003t0005g0257 a0002c0003t0090g0035 a0002c0026t0087g0198 others(1): Show |
4 | 210 | 0.0190 | -8 | c.322 others(23): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50884702 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(295): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(25): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(276): Show |
298 | 299 | 0.9967 | -8 | c.487 others(23): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25350959 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01515.hp2 HG01975.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0077 a0001c0001t0001g0105 a0001c0001t0001g0110 others(7): Show |
10 | 40 | 0.2500 | -8 | c.192 others(27): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01074.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0031 a0002c0002t0002g0033 |
10 | 57 | 0.1754 | -8 | c.*87 others(17): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1886552 | GATAAATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0067 |
4 | 272 | 0.0147 | -8 | c.-14 others(19): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 1057 | chr19 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71894087 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(107): Show |
139 | 140 | 0.9929 | -8 | c.-4+ others(25): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80725812 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(194): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(183): Show |
197 | 335 | 0.5881 | -8 | c.591 others(27): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80733960 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(295): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(281): Show |
298 | 321 | 0.9283 | -8 | c.591 others(27): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127966702 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(7): Show | a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 others(24): Show |
27 | 76 | 0.3553 | -8 | c.-18 others(25): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127999061 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(62): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(16): Show | a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0276 others(62): Show |
65 | 342 | 0.1901 | -8 | c.278 others(25): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127999599 | CTGCCTAT others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02572.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0063a0001c0001t0064 | a0001c0001t0061g0267 a0001c0001t0063g0266 a0001c0001t0064g0268 |
3 | 342 | 0.0088 | -8 | c.279 others(25): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128039144 | CATATATA others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01891.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0016a0001c0001t0035a0001c0001t0063others(3): Show | a0001c0001t0016g0122 a0001c0001t0016g0139 a0001c0001t0016g0179 others(8): Show |
11 | 50 | 0.2200 | -8 | c.*33 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3365 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89115370 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(1): Show | a0001c0001t0001g0099 a0001c0001t0001g0230 a0001c0001t0006g0192 others(2): Show |
5 | 100 | 0.0500 | -8 | c.-6- others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89146355 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 others(76): Show |
80 | 114 | 0.7018 | -8 | c.195 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |