regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM2A_chr16_20446521_20492669 | 20490443 | AAACTAGC others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0284 | 1 | 436 | 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 | a0001c0005t0007g0003a0001c0005t0007g0011a0001c0005t0007g0012 | 3 | 290 | 0.0103 | -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 | 290 | 0.0035 | -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 | a0001c0002t0009g0387 | 1 | 416 | 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 | a0001c0001t0003g0204a0001c0001t0003g0323a0001c0002t0002g0107others(3): Show | 6 | 416 | 0.0144 | -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 | a0001c0001t0004g0000a0001c0005t0004g0000 | 13 | 368 | 0.0353 | -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 | a0001c0001t0001g0182a0001c0001t0001g0183 | 2 | 360 | 0.0056 | -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 | a0001c0001t0002g0085a0001c0001t0005g0254 | 2 | 360 | 0.0056 | -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 | a0003c0007t0001g0046 | 1 | 366 | 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 | a0001c0005t0001g0304 | 1 | 366 | 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 | 356 | 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 | 356 | 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 | a0002c0002t0029g0142 | 1 | 426 | 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 | a0001c0001t0001g0286a0001c0001t0004g0226 | 2 | 344 | 0.0058 | -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 | a0001c0001t0021 | a0001c0001t0021g0083 | 1 | 314 | 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 | a0001c0001t0016a0001c0002t0001 | a0001c0001t0016g0302a0001c0001t0016g0303a0001c0002t0001g0013others(1): Show | 4 | 314 | 0.0127 | -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 | a0001c0001t0016 | a0001c0001t0016g0302a0001c0001t0016g0303 | 2 | 314 | 0.0064 | -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 | a0001c0001t0002a0001c0001t0014a0001c0001t0015others(1): Show | a0001c0001t0002g0102a0001c0001t0002g0109a0001c0001t0002g0113others(14): Show | 17 | 314 | 0.0541 | -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 | a0001c0001t0002g0079a0001c0001t0002g0080a0001c0001t0002g0081others(15): Show | 18 | 314 | 0.0573 | -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 | a0001c0001t0022 | a0001c0001t0022g0199 | 1 | 314 | 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 | a0001c0001t0002g0125 | 1 | 314 | 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 | a0001c0001t0015a0001c0002t0001 | a0001c0001t0015g0124a0001c0002t0001g0055a0001c0002t0001g0056others(8): Show | 11 | 314 | 0.0350 | -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 | a0001c0005t0008 | a0001c0005t0008g0004 | 1 | 314 | 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 | a0001c0002t0001a0001c0003t0009 | a0001c0002t0001g0033a0001c0003t0009g0183 | 2 | 314 | 0.0064 | -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 | a0001c0001t0001a0001c0002t0001a0001c0002t0031others(7): Show | a0001c0001t0001g0086a0001c0002t0001g0005a0001c0002t0001g0006others(48): Show | 51 | 314 | 0.1624 | -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 | a0001c0003t0003a0001c0003t0009 | a0001c0003t0003g0184a0001c0003t0009g0182a0001c0003t0009g0192 | 3 | 314 | 0.0096 | -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 | a0001c0001t0001g0296a0001c0001t0002g0002a0001c0001t0002g0179others(8): Show | 12 | 310 | 0.0387 | -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 | a0001c0002t0001g0211 | 1 | 310 | 0.0032 | -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 | a0001c0001t0001g0184a0001c0001t0001g0186a0001c0001t0001g0187others(16): Show | 19 | 310 | 0.0613 | -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 | a0002c0002t0001g0219 | 1 | 294 | 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 | a0002c0002t0001g0001a0002c0002t0001g0111 | 3 | 366 | 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 | a0002c0002t0001g0018a0002c0002t0001g0117a0002c0002t0001g0118others(2): Show | 8 | 366 | 0.0219 | -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 | 366 | 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 | 366 | 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 | a0001c0001t0002g0091a0001c0001t0002g0142a0001c0001t0003g0005others(13): Show | 20 | 324 | 0.0617 | -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 | a0001c0001t0001g0017a0001c0002t0003g0059a0001c0002t0003g0062others(4): Show | 7 | 216 | 0.0324 | -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 | a0002c0003t0010g0090 | 1 | 216 | 0.0046 | -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 | a0001c0003t0001g0014a0001c0003t0001g0016a0001c0003t0001g0019others(11): Show | 14 | 174 | 0.0805 | -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 | a0001c0002t0001g0036a0001c0002t0001g0099a0001c0002t0003g0015others(5): Show | 8 | 174 | 0.0460 | -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 | a0001c0002t0007g0063a0001c0003t0019g0143 | 2 | 174 | 0.0115 | -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(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0047a0001c0001t0001g0108a0001c0001t0001g0109others(27): Show | 30 | 174 | 0.1724 | -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 | a0001c0002t0001g0145a0001c0003t0003g0144 | 2 | 174 | 0.0115 | -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 | a0001c0002t0001g0025 | 1 | 338 | 0.0030 | -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 | a0001c0001t0001g0027a0001c0005t0008g0110a0001c0005t0022g0111 | 5 | 438 | 0.0114 | -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 | 438 | 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 | a0001c0001t0001g0001a0002c0002t0001g0013 | 8 | 338 | 0.0237 | -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 | a0001c0002t0001g0099 | 1 | 272 | 0.0037 | -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 | a0001c0001t0001g0204a0001c0002t0001g0099 | 2 | 272 | 0.0074 | -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 | 272 | 0.0037 | -15 | c.404 others(34): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54197942 | ATATTGTA others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01169.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0115a0001c0001t0001g0137a0001c0001t0001g0138others(31): Show | 34 | 272 | 0.1250 | -15 | c.404 others(34): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |