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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGBL2_chr11_47654591_47720369 | 47678343 | A | ATTATTAT others(22): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18967.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0027 a0002c0002t0002g0030 |
2 | 274 | 0.0073 | 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 | a0002c0002t0002g0090 | 1 | 273 | 0.0037 | 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 | a0002c0002t0002g0040 | 1 | 8 | 0.1250 | 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 | a0002c0002t0002g0032 a0002c0002t0002g0039 a0002c0002t0002g0061 |
3 | 10 | 0.3000 | 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 | a0002c0002t0002g0028 a0002c0002t0002g0063 a0002c0009t0002g0114 |
3 | 10 | 0.3000 | 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 | a0002c0002t0002g0048 | 1 | 8 | 0.1250 | 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 | a0001c0001t0001g0238 a0002c0002t0007g0340 |
2 | 9 | 0.2222 | 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 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0345 | 1 | 8 | 0.1250 | 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 |
a0001a0010 | a0001c0001a0010c0020 | a0001c0001t0001a0010c0020t0001 | a0001c0001t0001g0167 a0010c0020t0001g0157 |
2 | 143 | 0.0140 | 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 | a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 others(11): Show |
14 | 259 | 0.0541 | 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 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0002a0001c0001t0007a0003c0009t0004 | a0001c0001t0002g0022 a0001c0001t0007g0021 a0003c0009t0004g0020 |
3 | 102 | 0.0294 | 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 | 460 | 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 | a0001c0001t0001g0100 | 1 | 100 | 0.0100 | 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 | a0003c0006t0001g0175 a0003c0006t0001g0180 a0003c0006t0001g0187 others(1): Show |
4 | 315 | 0.0127 | 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 | a0001c0011t0001g0050 a0001c0011t0001g0210 a0002c0002t0001g0021 others(12): Show |
15 | 210 | 0.0714 | 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 | 128 | 0.0078 | 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(101): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 others(101): Show |
104 | 231 | 0.4502 | 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 | a0001c0001t0001g0063 a0001c0001t0001g0219 |
2 | 45 | 0.0444 | 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 | a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0001g0297 others(46): Show |
50 | 202 | 0.2475 | 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 | a0001c0001t0002g0160 | 1 | 154 | 0.0065 | 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 | a0001c0002t0001g0028 a0001c0002t0001g0041 a0001c0002t0002g0010 others(13): Show |
47 | 290 | 0.1621 | 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 | a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 others(1): Show |
4 | 44 | 0.0909 | 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 | a0001c0001t0002g0184 | 1 | 103 | 0.0097 | 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 | 103 | 0.0097 | 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 | a0004c0003t0009g0229 | 1 | 103 | 0.0097 | 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 | a0004c0003t0013 | a0004c0003t0013g0232 | 1 | 103 | 0.0097 | 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 | a0001c0001t0005g0078 | 1 | 266 | 0.0038 | 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 | a0001c0001t0002g0039 | 1 | 422 | 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 | a0001c0023t0007g0097 | 1 | 466 | 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 | a0001c0002t0001g0092 | 1 | 47 | 0.0213 | 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 | a0001c0002t0001g0113 a0001c0002t0001g0114 |
2 | 48 | 0.0417 | 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 | a0001c0001t0001g0155 | 1 | 47 | 0.0213 | 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 | a0001c0002t0015a0001c0015t0067a0004c0006t0037 | a0001c0002t0015g0030 a0001c0002t0015g0066 a0001c0002t0015g0067 others(2): Show |
7 | 452 | 0.0155 | 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 | 155 | 0.0065 | 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 | a0001c0001t0003g0105 a0001c0001t0003g0123 a0001c0001t0003g0158 others(2): Show |
5 | 420 | 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 | a0001c0001t0001g0283 a0001c0001t0002g0094 a0001c0001t0002g0310 others(3): Show |
6 | 36 | 0.1667 | 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 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(1): Show |
4 | 260 | 0.0154 | 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 | a0001c0001t0001g0038 a0002c0002t0002g0021 a0006c0010t0001g0049 |
3 | 9 | 0.3333 | 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 | a0001c0001t0001g0189 a0001c0004t0001g0197 a0001c0004t0001g0212 others(2): Show |
5 | 11 | 0.4545 | 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 |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0132 others(63): Show |
66 | 72 | 0.9167 | 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 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0107 | 1 | 27 | 0.0370 | 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 | a0002c0002t0001g0138 | 1 | 236 | 0.0042 | 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 | 18 | 0.0556 | 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 |
a0003a0004 | a0003c0004a0004c0009 | a0003c0004t0003a0004c0009t0007a0004c0009t0023 | a0003c0004t0003g0007 a0004c0009t0007g0178 a0004c0009t0023g0262 |
3 | 309 | 0.0097 | 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 | a0007 | a0007c0040 | a0007c0040t0040 | a0007c0040t0040g0029 | 1 | 313 | 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 |
a0002a0006a0016 | a0002c0001a0006c0010a0016c0014 | a0002c0001t0002a0002c0001t0012a0006c0010t0007others(2): Show | a0002c0001t0002g0018 a0002c0001t0012g0172 a0006c0010t0007g0003 others(5): Show |
8 | 262 | 0.0305 | 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 | 11 | 0.0909 | 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 |
a0004a0007 | a0004c0006a0007c0009 | a0004c0006t0014a0007c0009t0009 | a0004c0006t0014g0077 a0007c0009t0009g0026 |
2 | 195 | 0.0103 | 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 | a0001c0002t0053g0040 a0005c0005t0004g0293 |
2 | 24 | 0.0833 | 29 | c.437 others(48): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |