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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGBL2_chr11_47654591_47720369 | 47678343 | A | ATTATTAT others(22): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18967.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029a0002c0002t0002g0032 | 2 | 356 | 0.0056 | 29 | c.201 others(46): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 13/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47678343 | A | ATTATTTT others(22): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0084 | 1 | 356 | 0.0028 | 29 | c.201 others(46): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 13/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0056 | 1 | 356 | 0.0028 | 29 | c.848 others(44): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01517.hp1 HG03139.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0026a0002c0002t0002g0055a0002c0002t0002g0061 | 3 | 356 | 0.0084 | 29 | c.848 others(44): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02145.hp1 HG03834.hp1 |
a0002 | a0002c0002a0002c0009 | a0002c0002t0002a0002c0009t0002 | a0002c0002t0002g0030a0002c0002t0002g0053a0002c0009t0002g0113 | 3 | 356 | 0.0084 | 29 | c.848 others(44): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0041 | 1 | 356 | 0.0028 | 29 | c.848 others(44): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02818.hp1 HG04204.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0007 | a0001c0001t0001g0237a0002c0002t0007g0339 | 2 | 356 | 0.0056 | 29 | c.848 others(44): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0344 | 1 | 356 | 0.0028 | 29 | c.848 others(44): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL3_chr7_134981508_135140778 | 135026244 | A | ATTATTTT others(22): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18967.hp2 |
a0001a0007 | a0001c0001a0007c0020 | a0001c0001t0001a0007c0020t0001 | a0001c0001t0001g0169a0007c0020t0001g0159 | 2 | 320 | 0.0063 | 29 | c.419 others(46): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGBL3_chr7_134981508_135140778 | 135026248 | T | TTTTATTT others(22): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01496.hp1 HG02572.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0251a0001c0001t0001g0252a0001c0001t0001g0253others(11): Show | 14 | 320 | 0.0438 | 29 | c.419 others(46): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGBL4_chr1_48527854_50028954 | 49207507 | T | TTCTCTCT others(22): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG03453.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0002a0001c0001t0007a0004c0009t0004 | a0001c0001t0002g0022a0001c0001t0007g0021a0004c0009t0004g0020 | 3 | 104 | 0.0289 | 29 | c.377 others(48): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49665984 | T | TATTTTAA others(22): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 104 | 0.0096 | 29 | c.282 others(48): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AGER_chr6_32175969_32189253 | 32188030 | T | TCTGGATG others(22): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 461 | 0.0022 | 29 | c.-38 others(40): Show |
AGER | ENSG00000204305.16 | transcript | ENST00000375076.9 | protein_coding | 3778 | chr6 | TogoVar | ||||||
AGK_chr7_141546410_141660244 | 141602173 | T | TGTGTGTG others(22): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 274 | 0.0037 | 29 | c.297 others(44): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 5/15 | chr7 | TogoVar | ||||||
AGL_chr1_99845361_99929020 | 99857842 | G | GGGGGGAG others(22): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01928.hp2 HG02071.hp2 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0177a0003c0006t0001g0182a0003c0006t0001g0189others(1): Show | 4 | 318 | 0.0126 | 29 | c.83- others(44): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGMO_chr7_15195317_15567015 | 15406286 | G | GTGTGTAT others(22): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02055.hp1 HG02055.hp2 others(12): Show |
a0001a0002a0005 | a0001c0011a0002c0002a0002c0004others(1): Show | a0001c0011t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0011t0001g0050a0001c0011t0001g0210a0002c0002t0001g0021others(12): Show | 15 | 236 | 0.0636 | 29 | c.610 others(48): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 5/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15427984 | A | ACTCAATT others(22): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0033 | 1 | 236 | 0.0042 | 29 | c.513 others(46): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15427984 | A | ACTTAATT others(22): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(102): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0028others(102): Show | 105 | 236 | 0.4449 | 29 | c.513 others(46): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15459599 | T | TGTGTGTG others(22): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0219 | 2 | 236 | 0.0085 | 29 | c.410 others(48): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43959082 | T | TGGTGTGT others(22): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01243.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0142a0001c0001t0001g0164a0001c0001t0001g0297others(46): Show | 50 | 342 | 0.1462 | 29 | c.-48 others(44): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AGTPBP1_chr9_85541539_85746954 | 85689925 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 302 | 0.0033 | 29 | c.157 others(46): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240872327 | G | GAGGAGGA others(22): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00639.hp1 others(44): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0028a0001c0002t0001g0041a0001c0002t0002g0010others(13): Show | 47 | 444 | 0.1059 | 29 | c.525 others(44): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AHI1_chr6_135278532_135502740 | 135482894 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0189a0001c0001t0005g0190a0001c0001t0005g0191others(1): Show | 4 | 220 | 0.0182 | 29 | c.135 others(46): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 268 | 0.0037 | 29 | c.-10 others(46): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0004 | a0004c0003 | a0004c0003t0010 | a0004c0003t0010g0157 | 1 | 268 | 0.0037 | 29 | c.-10 others(46): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0004 | a0004c0003 | a0004c0003t0009 | a0004c0003t0009g0233 | 1 | 268 | 0.0037 | 29 | c.-10 others(46): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0004 | a0004c0003 | a0004c0003t0014 | a0004c0003t0014g0240 | 1 | 268 | 0.0037 | 29 | c.-10 others(46): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 350966 | A | AGAAAATA others(22): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0094 | 1 | 268 | 0.0037 | 29 | c.63- others(44): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AIF1L_chr9_131091531_131128144 | 131128137 | G | GGCACGAC others(22): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 424 | 0.0024 | 29 | c.*78 others(40): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 4994 | chr9 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70125258 | G | GAGACAGT others(22): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0023 | a0001c0023t0007 | a0001c0023t0007g0098 | 1 | 468 | 0.0021 | 29 | c.-13 others(46): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 442 | 0.0023 | 29 | c.135 others(44): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02572.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112a0001c0002t0001g0113 | 2 | 442 | 0.0045 | 29 | c.135 others(44): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAT others(22): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 442 | 0.0023 | 29 | c.135 others(44): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIPL1_chr17_6418738_6440121 | 6433870 | A | AGCCCAGA others(22): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 HG02818.hp1 others(4): Show |
a0001a0004 | a0001c0002a0001c0015a0004c0006 | a0001c0002t0015a0001c0015t0068a0004c0006t0037 | a0001c0002t0015g0022a0001c0002t0015g0047a0001c0002t0015g0048others(2): Show | 7 | 454 | 0.0154 | 29 | c.276 others(42): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367579 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0142 | 1 | 284 | 0.0035 | 29 | c.891 others(48): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
AK6_chr5_69345984_69374520 | 69347524 | T | TCTTGGAT others(22): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0113a0001c0001t0003g0131a0001c0001t0003g0165others(2): Show | 5 | 421 | 0.0119 | 29 | c.*45 others(40): Show |
AK6 | ENSG00000085231.14 | transcript | ENST00000380822.9 | protein_coding | 3459 | chr5 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96418322 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01258.hp1 HG01891.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0283a0001c0001t0002g0094a0001c0001t0002g0310others(3): Show | 6 | 316 | 0.0190 | 29 | c.499 others(46): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AK8_chr9_132720578_132883284 | 132812516 | G | GGGGTGAG others(22): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01257.hp1 HG01258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(1): Show | 4 | 266 | 0.0150 | 29 | c.979 others(46): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132812530 | T | TACCCACT others(22): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03471.hp1 HG03516.hp2 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0001a0002c0002t0002a0006c0010t0001 | a0001c0001t0001g0038a0002c0002t0002g0021a0006c0010t0001g0049 | 3 | 266 | 0.0113 | 29 | c.979 others(46): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132812530 | T | TGCCCACT others(22): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0004t0001a0003c0005t0001 | a0001c0001t0001g0189a0001c0004t0001g0197a0001c0004t0001g0212others(2): Show | 5 | 266 | 0.0188 | 29 | c.979 others(46): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132812530 | T | TGCCCACT others(22): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00642.hp1 others(63): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0120a0001c0001t0001g0130a0001c0001t0001g0132others(63): Show | 66 | 266 | 0.2481 | 29 | c.979 others(46): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109684873 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0107 | 1 | 378 | 0.0027 | 29 | c.-12 others(46): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 1/40 | chr6 | TogoVar | ||||||
AKAP10_chr17_19899302_19982828 | 19946222 | T | TTATATAT others(22): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 | 1 | 278 | 0.0036 | 29 | c.976 others(46): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 5/14 | chr17 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151304488 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0124 | 1 | 316 | 0.0032 | 29 | c.163 others(46): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP12_chr6_151234967_151363559 | 151322683 | G | GCCCACTC others(22): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG03579.hp2 |
a0003a0006 | a0003c0004a0006c0009 | a0003c0004t0003a0006c0009t0018a0006c0009t0024 | a0003c0004t0003g0007a0006c0009t0018g0178a0006c0009t0024g0262 | 3 | 316 | 0.0095 | 29 | c.319 others(48): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP12_chr6_151234967_151363559 | 151322731 | C | CGTGTCCA others(22): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0015 | a0015c0040 | a0015c0040t0041 | a0015c0040t0041g0029 | 1 | 316 | 0.0032 | 29 | c.319 others(48): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP12_chr6_151234967_151363559 | 151322750 | T | TGCCACTG others(22): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02647.hp2 others(5): Show |
a0002a0007a0014 | a0002c0001a0007c0010a0014c0014 | a0002c0001t0002a0002c0001t0012a0007c0010t0008others(2): Show | a0002c0001t0002g0018a0002c0001t0012g0172a0007c0010t0008g0003others(5): Show | 8 | 316 | 0.0253 | 29 | c.319 others(48): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85504503 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0224 | 1 | 314 | 0.0032 | 29 | c.34- others(46): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85613713 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02976.hp2 |
a0004a0008 | a0004c0006a0008c0009 | a0004c0006t0014a0008c0009t0009 | a0004c0006t0014g0077a0008c0009t0009g0026 | 2 | 314 | 0.0064 | 29 | c.416 others(50): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85650755 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01074.hp1 |
a0001a0005 | a0001c0002a0005c0005 | a0001c0002t0053a0005c0005t0004 | a0001c0002t0053g0038a0005c0005t0004g0293 | 2 | 314 | 0.0064 | 29 | c.437 others(48): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |