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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSL5_chr10_112369116_112433376 | 112398041 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
6 | 340 | 0.0176 | -15 | c.157 others(30): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20490443 | AAACTAGC others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0269 | 1 | 434 | 0.0023 | -15 | c.*37 others(26): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 2775 | chr16 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81213793 | TTTCTCTT others(8): Show |
T | intron_variant | MODIFIER | HG02976.hp1 HG03209.hp1 HG03516.hp1 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0003 a0001c0005t0007g0011 a0001c0005t0007g0012 |
3 | 186 | 0.0161 | -15 | c.135 others(34): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81265291 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0044 | 1 | 116 | 0.0086 | -15 | c.*10 others(28): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4082 | chr12 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73919891 | CTTGTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0383 | 1 | 414 | 0.0024 | -15 | c.*31 others(24): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 27 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73923641 | CAAGAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp2 HG02735.hp1 HG03239.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0003 | a0001c0001t0003g0206 a0001c0001t0003g0318 a0001c0002t0002g0111 others(3): Show |
6 | 102 | 0.0588 | -15 | c.*40 others(26): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3777 | chr2 | TogoVar | |||||||
ACTL10_chr20_33661943_33673525 | 33663701 | TGCGGCGG others(8): Show |
T | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01884.hp2 HG02145.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0000 a0001c0005t0004g0000 |
13 | 366 | 0.0355 | -15 | c.-37 others(26): Show |
ACTL10 | ENSG00000288649.2 | transcript | ENST00000677665.1 | protein_coding | 3241 | chr20 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100652999 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0181 |
2 | 39 | 0.0513 | -15 | c.369 others(32): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100654432 | CATAATAA others(8): Show |
C | intron_variant | MODIFIER | HG03688.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0086 a0001c0001t0005g0253 |
2 | 80 | 0.0250 | -15 | c.369 others(30): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17767548 | TGGGTGCA others(8): Show |
T | intron_variant | MODIFIER | HG02155.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0047 | 1 | 364 | 0.0027 | -15 | c.-25 others(34): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17799621 | AGAAATTG others(8): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0302 | 1 | 364 | 0.0027 | -15 | c.-24 others(34): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8700653 | AAATACAC others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01346.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 2 | 354 | 0.0056 | -15 | c.-19 others(26): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1859 | chr19 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8703249 | CACCCCGC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 354 | 0.0028 | -15 | c.-45 others(26): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 4455 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40755243 | ATTTTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0137 | 1 | 424 | 0.0024 | -15 | c.-54 others(26): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4767 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236721015 | GTTTTTTG others(8): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0292 a0001c0001t0004g0224 |
2 | 133 | 0.0150 | -15 | c.448 others(30): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38668684 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0084 | 1 | 312 | 0.0032 | -15 | c.162 others(34): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38680212 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03579.hp2 NA18986.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0001 | a0001c0001t0013g0305 a0001c0001t0013g0306 a0001c0002t0001g0014 others(1): Show |
4 | 72 | 0.0556 | -15 | c.163 others(34): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38728410 | GCTCCTCC others(8): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0305 a0001c0001t0013g0306 |
2 | 180 | 0.0111 | -15 | c.241 others(32): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735732 | CGGGGCGG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG02071.hp2 others(14): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0002a0001c0001t0012a0001c0017t0002 | a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0114 others(14): Show |
17 | 309 | 0.0550 | -15 | c.*63 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4144 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735752 | CGGGGCGG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02055.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0002a0003c0009t0002 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(15): Show |
18 | 311 | 0.0579 | -15 | c.*63 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4164 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735777 | CGGGGCGG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0199 | 1 | 311 | 0.0032 | -15 | c.*63 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4189 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735802 | CGGGGCGG others(8): Show |
C | downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 310 | 0.0032 | -15 | c.*63 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4214 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735822 | CGGGGCGG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01123.hp1 HG01884.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0001 | a0001c0001t0012g0147 a0001c0002t0001g0056 a0001c0002t0001g0057 others(8): Show |
11 | 310 | 0.0355 | -15 | c.*63 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4234 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735853 | GGGGCGGT others(8): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0003 | 1 | 312 | 0.0032 | -15 | c.*64 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4265 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735867 | GCGGGCGG others(8): Show |
G | downstream_gene_variant | MODIFIER | HG02602.hp2 HG03669.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0008 | a0001c0002t0001g0034 a0001c0003t0008g0183 |
2 | 297 | 0.0067 | -15 | c.*64 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4279 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735868 | CGGGCGGG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(48): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0030others(6): Show | a0001c0001t0001g0087 a0001c0002t0001g0006 a0001c0002t0001g0007 others(48): Show |
51 | 205 | 0.2488 | -15 | c.*64 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4280 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735922 | CGGGGCGG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG03490.hp2 HG03831.hp1 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0008 | a0001c0003t0004g0184 a0001c0003t0008g0182 a0001c0003t0008g0192 |
3 | 305 | 0.0098 | -15 | c.*64 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4334 | chr19 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152778943 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0294 a0001c0001t0002g0003 a0001c0001t0002g0179 others(8): Show |
12 | 16 | 0.7500 | -15 | c.45- others(30): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152796860 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0194 | 1 | 10 | 0.1000 | -15 | c.101 others(32): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152805003 | ACTCATGG others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01952.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 others(16): Show |
19 | 308 | 0.0617 | -15 | c.336 others(32): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150299480 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 292 | 0.0034 | -15 | c.-51 others(32): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
ACTR5_chr20_38743460_38777520 | 38747261 | AATATCTT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA19012.hp1 NA19057.hp1 NA19063.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0108 |
3 | 364 | 0.0082 | -15 | c.-12 others(26): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 1198 | chr20 | TogoVar | |||||||
ACTR5_chr20_38743460_38777520 | 38750614 | TTTGTTTT others(8): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG02559.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 a0002c0002t0001g0114 a0002c0002t0001g0115 others(2): Show |
8 | 364 | 0.0220 | -15 | c.605 others(30): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACTRT2_chr1_3016467_3027903 | 3026101 | ATGGTGGT others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 364 | 0.0027 | -15 | c.*32 others(26): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 3199 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3026116 | GTGGTGGT others(8): Show |
G | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0000 | 1 | 364 | 0.0027 | -15 | c.*32 others(26): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 3214 | chr1 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0002g0092 a0001c0001t0002g0143 a0001c0001t0003g0005 others(13): Show |
20 | 44 | 0.4545 | -15 | c.139 others(32): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157562459 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG02280.hp2 HG02647.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0003a0001c0002t0005others(3): Show | a0001c0001t0001g0017 a0001c0002t0003g0059 a0001c0002t0003g0062 others(4): Show |
7 | 56 | 0.1250 | -15 | c.305 others(32): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157599314 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0087 | 1 | 39 | 0.0256 | -15 | c.74- others(32): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157755523 | AATACCAT others(8): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02055.hp1 others(11): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0003t0005a0001c0005t0001others(2): Show | a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0019 others(11): Show |
14 | 74 | 0.1892 | -15 | c.126 others(34): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157756976 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02897.hp1 HG02970.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0036 a0001c0002t0001g0099 a0001c0002t0003g0015 others(5): Show |
8 | 172 | 0.0465 | -15 | c.126 others(34): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157815213 | ATATATGC others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03130.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0003t0019 | a0001c0002t0007g0063 a0001c0003t0019g0143 |
2 | 172 | 0.0116 | -15 | c.-8+ others(30): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826697 | GAAGGAAA others(8): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00735.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0001g0109 others(26): Show |
29 | 54 | 0.5370 | -15 | c.-18 others(34): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863336 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0003 | a0001c0002t0001g0145 a0001c0003t0003g0144 |
2 | 13 | 0.1538 | -15 | c.-18 others(36): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147844400 | GGCCGCCG others(8): Show |
G | upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 312 | 0.0032 | -15 | c.-75 others(24): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 628 | chr2 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51914716 | TTTTAATT others(8): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01255.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0008a0001c0005t0022 | a0001c0001t0001g0027 a0001c0005t0008g0110 a0001c0005t0022g0111 |
5 | 161 | 0.0311 | -15 | c.772 others(30): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVRL1_chr12_51902504_51928361 | 51927620 | AAACAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 436 | 0.0023 | -15 | c.*67 others(26): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 4260 | chr12 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51981894 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01884.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0013 |
8 | 51 | 0.1569 | -15 | c.-17 others(26): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1640 | chr3 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53967649 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 57 | 0.0175 | -15 | c.-37 others(26): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3463 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54102638 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03017.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0189 a0001c0002t0001g0072 |
2 | 7 | 0.2857 | -15 | c.278 others(34): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54197935 | ATGTATTA others(8): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 235 | 0.0043 | -15 | c.404 others(34): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |