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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2M_chr12_9062708_9120919 | 9110552 | CATGCAAT others(17): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 330 | 0.0030 | -24 | c.484 others(39): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4/35 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(17): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02738.hp1 others(5): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0024 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0249 a0001c0001t0002g0155 others(4): Show |
8 | 21 | 0.3810 | -24 | c.915 others(41): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151761149 | ATATATAT others(17): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(69): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0016a0001c0005t0003others(1): Show | a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0009 others(22): Show |
72 | 426 | 0.1690 | -24 | c.*35 others(35): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3578 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151761204 | GATATATA others(17): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 69 | 0.0145 | -24 | c.*36 others(35): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3625 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36242364 | TTTGTTGT others(17): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0112 |
5 | 149 | 0.0336 | -24 | c.757 others(41): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44297441 | AGGCGCGG others(17): Show |
A | downstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 394 | 0.0025 | -24 | c.*30 others(35): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1289 | chr6 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81140928 | TGGGACCA others(17): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(2): Show |
a0006a0007a0009 | a0006c0042a0006c0056a0007c0071others(1): Show | a0006c0042t0001a0006c0056t0001a0007c0071t0001others(1): Show | a0006c0042t0001g0335 a0006c0056t0001g0332 a0007c0071t0001g0201 others(2): Show |
5 | 366 | 0.0137 | -24 | c.56- others(39): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8754662 | ATTTATTT others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(149): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 others(149): Show |
152 | 172 | 0.8837 | -24 | c.317 others(41): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215105578 | GACACACA others(17): Show |
G | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0171 | 1 | 178 | 0.0056 | -24 | c.163 others(41): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862675 | GGGCCGGG others(17): Show |
G | intron_variant | MODIFIER | HG02451.hp2 NA18967.hp1 |
a0005a0006 | a0005c0014a0006c0004 | a0005c0014t0005a0006c0004t0006 | a0005c0014t0005g0116 a0006c0004t0006g0161 |
2 | 271 | 0.0074 | -24 | c.422 others(39): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104899215 | ATTGGAAT others(17): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0011 | a0011c0041 | a0011c0041t0002 | a0011c0041t0002g0285 | 1 | 316 | 0.0032 | -24 | c.66+ others(39): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94091579 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(55): Show |
a0001a0002a0005others(10): Show | a0001c0001a0001c0003a0002c0002others(18): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(18): Show | a0001c0001t0001g0070 a0001c0003t0001g0074 a0002c0002t0001g0002 others(52): Show |
58 | 91 | 0.6374 | -24 | c.768 others(41): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293849 | TGTGTGTG others(17): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0012g0013 |
3 | 348 | 0.0086 | -24 | c.149 others(41): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68904291 | AAATAATA others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(117): Show |
a0001a0003a0004others(11): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 others(117): Show |
120 | 252 | 0.4762 | -24 | c.239 others(41): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 19/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68922194 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0049 | 1 | 41 | 0.0244 | -24 | c.150 others(39): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944316 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0187 | 1 | 150 | 0.0067 | -24 | c.-5- others(39): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958732 | TAATATTT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0105 | 1 | 272 | 0.0037 | -24 | c.-37 others(35): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3341 | chr17 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169016979 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG02071.hp1 others(17): Show |
a0001a0002a0006 | a0001c0005a0001c0006a0001c0030others(2): Show | a0001c0005t0001a0001c0005t0010a0001c0005t0017others(6): Show | a0001c0005t0001g0200 a0001c0005t0001g0202 a0001c0005t0001g0209 others(17): Show |
20 | 104 | 0.1923 | -24 | c.77- others(37): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530790 | AAAGAAAG others(17): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG03654.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0069 a0001c0004t0002g0072 |
2 | 302 | 0.0066 | -24 | c.268 others(41): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530822 | CAAGAAAG others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00738.hp2 others(46): Show |
a0001a0012a0015 | a0001c0001a0001c0005a0012c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0179 others(46): Show |
49 | 295 | 0.1661 | -24 | c.268 others(41): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530830 | CAAGAAAG others(17): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 313 | 0.0032 | -24 | c.268 others(41): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20667668 | TCTGCCCC others(17): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003others(54): Show | a0001c0001a0001c0005a0001c0061others(87): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(118): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0116 others(307): Show |
312 | 330 | 0.9455 | -24 | c.170 others(43): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20667710 | CCTGCCCC others(17): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG02155.hp2 HG02735.hp1 others(7): Show |
a0002a0006a0010others(2): Show | a0002c0003a0002c0014a0006c0007others(3): Show | a0002c0003t0007a0002c0014t0001a0002c0014t0003others(4): Show | a0002c0003t0007g0037 a0002c0014t0001g0196 a0002c0014t0001g0197 others(7): Show |
10 | 358 | 0.0279 | -24 | c.170 others(43): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20681022 | CTTTCTTT others(17): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0007 | a0007c0016 | a0007c0016t0003 | a0007c0016t0003g0053 | 1 | 353 | 0.0028 | -24 | c.170 others(41): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75047062 | GACACACA others(17): Show |
G | downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0049 | 1 | 61 | 0.0164 | -24 | c.*62 others(35): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3985 | chrX | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16003995 | CATTGGTG others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(20): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0002t0001g0012 a0001c0002t0001g0139 a0001c0002t0001g0234 others(20): Show |
23 | 248 | 0.0927 | -24 | c.49- others(39): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99814434 | TATACACA others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01928.hp2 HG04184.hp1 others(2): Show |
a0001a0005 | a0001c0002a0005c0008 | a0001c0002t0002a0001c0002t0003a0005c0008t0001 | a0001c0002t0002g0089 a0001c0002t0003g0116 a0001c0002t0003g0117 others(2): Show |
5 | 333 | 0.0150 | -24 | c.209 others(43): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674022 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 178 | 0.0056 | -24 | c.259 others(41): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674034 | CTCTTTCT others(17): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0308 others(1): Show |
4 | 105 | 0.0381 | -24 | c.259 others(41): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95029201 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0013 | a0013c0035 | a0013c0035t0003 | a0013c0035t0003g0149 | 1 | 223 | 0.0045 | -24 | c.387 others(43): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95029205 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 236 | 0.0042 | -24 | c.387 others(43): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95029209 | TATATAGA others(17): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 |
a0001 | a0001c0003a0001c0022 | a0001c0003t0002a0001c0022t0011 | a0001c0003t0002g0164 a0001c0022t0011g0035 |
2 | 239 | 0.0084 | -24 | c.387 others(43): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95029231 | GAGAGAGA others(17): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01346.hp2 HG01361.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0020a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0020g0173 a0001c0002t0001g0142 a0001c0003t0001g0151 others(6): Show |
9 | 240 | 0.0375 | -24 | c.387 others(43): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95054021 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0059 | a0002c0059t0006 | a0002c0059t0006g0061 | 1 | 19 | 0.0526 | -24 | c.336 others(41): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95064252 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(16): Show | a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0220 others(30): Show |
33 | 133 | 0.2481 | -24 | c.321 others(43): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 25/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95064254 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0134 | 1 | 214 | 0.0047 | -24 | c.321 others(43): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 25/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95196582 | GAGGAAGG others(17): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02647.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0009a0001c0021a0001c0040 | a0001c0009t0002a0001c0021t0001a0001c0040t0003 | a0001c0009t0002g0123 a0001c0021t0001g0009 a0001c0021t0001g0010 others(1): Show |
4 | 60 | 0.0667 | -24 | c.116 others(43): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95296161 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0076 | 1 | 246 | 0.0041 | -24 | c.74+ others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42295333 | TAAAAAAA others(17): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG01891.hp1 others(14): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0002g0277 a0001c0001t0004g0095 a0001c0001t0004g0100 others(14): Show |
17 | 38 | 0.4474 | -24 | c.177 others(41): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88116533 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 346 | 0.0029 | -24 | c.842 others(41): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43833363 | ATATTATT others(17): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG03130.hp1 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0231 a0002c0002t0002g0005 |
5 | 88 | 0.0568 | -24 | c.266 others(41): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43839403 | CTTTTTTT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 a0001c0001t0003g0148 |
2 | 5 | 0.4000 | -24 | c.-74 others(33): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43839403 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp1 |
a0007 | a0007c0009 | a0007c0009t0028 | a0007c0009t0028g0033 a0007c0009t0028g0034 |
2 | 3 | 0.6667 | -24 | c.63+ others(37): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43856331 | TCCCTGTC others(17): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | -24 | c.964 others(41): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870979 | GAAAGAGA others(17): Show |
G | upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 371 | 0.0027 | -24 | c.-11 others(35): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1073 | chr14 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89115367 | GGTATGTG others(17): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG00741.hp2 others(37): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 others(37): Show |
40 | 189 | 0.2116 | -24 | c.-6- others(37): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17302327 | TCATTCAG others(17): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG03942.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0007 | a0001c0003t0003g0043 a0001c0003t0003g0045 a0001c0003t0007g0044 |
3 | 384 | 0.0078 | -24 | c.-8- others(37): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26843467 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02015.hp2 NA18941.hp1 NA18969.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(3): Show |
6 | 345 | 0.0174 | -24 | c.117 others(43): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26843471 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0303 | 1 | 355 | 0.0028 | -24 | c.117 others(43): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26843473 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG03490.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0131 |
2 | 354 | 0.0056 | -24 | c.117 others(43): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar |