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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADCY2_chr5_7391138_7835081 | 7557192 | G | GATATATA others(45): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0011 | a0003c0011t0002 | a0003c0011t0002g0025 | 1 | 129 | 0.0078 | 52 | c.570 others(71): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123348036 | A | AGCGTGTG others(45): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0087 | 1 | 6 | 0.1667 | 52 | c.128 others(69): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 2/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123348036 | A | AGTGTGTG others(45): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0021 | 1 | 6 | 0.1667 | 52 | c.128 others(69): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 2/20 | chr3 | TogoVar | |||||||
ADGB_chr6_146593972_146820462 | 146691427 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG03041.hp1 |
a0008 | a0008c0016 | a0008c0016t0003 | a0008c0016t0003g0001 a0008c0016t0003g0224 |
3 | 272 | 0.0110 | 52 | c.148 others(69): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGB_chr6_146593972_146820462 | 146691429 | T | TTTATATA others(45): Show |
intron_variant | MODIFIER | NA18989.hp2 NA18998.hp2 |
a0004a0005 | a0004c0012a0005c0026 | a0004c0012t0002a0005c0026t0001 | a0004c0012t0002g0121 a0005c0026t0001g0128 |
2 | 239 | 0.0084 | 52 | c.148 others(69): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | chr6 | TogoVar | |||||||
ADGRB3_chr6_68630282_69394506 | 69031519 | C | CTCTTTCT others(45): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 73 | 0.0137 | 52 | c.210 others(73): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69043321 | A | AAAGAAAG others(45): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 73 | 0.0137 | 52 | c.210 others(71): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131107302 | C | CGAAGGGC others(45): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(89): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0111 others(89): Show |
92 | 240 | 0.3833 | 52 | c.188 others(71): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131107338 | T | TGTGTCTG others(45): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG03486.hp2 others(2): Show |
a0001a0003a0010 | a0001c0001a0001c0022a0003c0029others(1): Show | a0001c0001t0016a0001c0022t0016a0003c0029t0031others(1): Show | a0001c0001t0016g0148 a0001c0001t0016g0183 a0001c0022t0016g0109 others(2): Show |
5 | 240 | 0.0208 | 52 | c.188 others(71): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131107449 | A | AAATCCCA others(45): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0067 | 1 | 240 | 0.0042 | 52 | c.188 others(71): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRE1_chr19_6882579_6945450 | 6882905 | C | CTTTTTTT others(45): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG02257.hp2 HG02698.hp2 others(6): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(6): Show | a0001c0001t0001g0043 a0002c0002t0001g0303 a0003c0003t0002g0304 others(6): Show |
9 | 327 | 0.0275 | 52 | c.-47 others(63): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 4673 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14774674 | T | TTTTCTTT others(45): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0017 | a0001c0017t0003 | a0001c0017t0003g0071 | 1 | 138 | 0.0072 | 52 | c.32- others(65): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 2/20 | chr19 | TogoVar | |||||||
ADGRE3_chr19_14614117_14679844 | 14617341 | C | CCTTTCTT others(45): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0047 | 1 | 90 | 0.0111 | 52 | c.*20 others(63): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 1775 | chr19 | TogoVar | |||||||
ADGRE3_chr19_14614117_14679844 | 14636149 | T | TCTTTCTT others(45): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 85 | 0.0118 | 52 | c.148 others(71): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/15 | chr19 | TogoVar | |||||||
ADGRE3_chr19_14614117_14679844 | 14636149 | T | TCTTTCTT others(45): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 85 | 0.0118 | 52 | c.148 others(71): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/15 | chr19 | TogoVar | |||||||
ADGRE3_chr19_14614117_14679844 | 14649334 | G | GCCCATCT others(45): Show |
intron_variant | MODIFIER | HG03942.hp1 HG04115.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0040 a0003c0002t0001g0278 |
2 | 370 | 0.0054 | 52 | c.697 others(69): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 7/15 | chr19 | TogoVar | |||||||
ADRA1D_chr20_4215630_4254287 | 4227704 | C | CTCCCTCC others(45): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0305 | 1 | 177 | 0.0056 | 52 | c.111 others(71): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
ADRA1D_chr20_4215630_4254287 | 4231038 | T | TTTTCTTT others(45): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0297 | 1 | 311 | 0.0032 | 52 | c.111 others(71): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
ADRA1D_chr20_4215630_4254287 | 4231038 | T | TTTTCTTT others(45): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0328 a0001c0001t0005g0326 |
2 | 312 | 0.0064 | 52 | c.111 others(71): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
ADRM1_chr20_62297997_62313862 | 62309635 | G | GGGTGGGA others(45): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 308 | 0.0032 | 52 | c.*87 others(61): Show |
ADRM1 | ENSG00000130706.13 | transcript | ENST00000253003.7 | protein_coding | 774 | chr20 | TogoVar | |||||||
ADSS1_chr14_104719229_104752310 | 104729716 | C | CGGGAGGA others(45): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 343 | 0.0029 | 52 | c.193 others(69): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581390 | A | ATACGTGT others(45): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0150 | 1 | 155 | 0.0065 | 52 | c.48- others(69): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581478 | G | GTATACGT others(45): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0004 | a0001c0004t0066 | a0001c0004t0066g0115 | 1 | 161 | 0.0062 | 52 | c.48- others(69): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581516 | C | ATACGTGT others(45): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0079 | 1 | 160 | 0.0063 | 52 | c.48- others(69): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | chrX | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235536158 | C | CACACACA others(45): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01192.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0003g0090 a0001c0001t0005g0007 a0001c0001t0007g0008 others(9): Show |
12 | 42 | 0.2857 | 52 | c.163 others(71): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235999620 | A | ATGGTGGT others(45): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 others(30): Show |
33 | 98 | 0.3367 | 52 | c.164 others(73): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(45): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 8 | 0.1250 | 52 | c.848 others(67): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | |||||||
AGBL4_chr1_48527854_50028954 | 48588798 | C | CAGAGAAG others(45): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 42 | 0.0238 | 52 | c.110 others(71): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 10/13 | chr1 | TogoVar | |||||||
AGGF1_chr5_77025404_77070234 | 77043515 | G | GCGGCCTG others(45): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0304 | 1 | 436 | 0.0023 | 52 | c.871 others(69): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15322467 | A | AATATATA others(45): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 234 | 0.0043 | 52 | c.126 others(73): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15354309 | T | TACACGTG others(45): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0116 a0001c0001t0005g0037 |
2 | 224 | 0.0089 | 52 | c.126 others(73): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15354327 | T | TGTATATA others(45): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 144 | 0.0069 | 52 | c.126 others(73): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15432369 | C | CACACACA others(45): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0004 | a0004c0008 | a0004c0008t0011 | a0004c0008t0011g0226 | 1 | 143 | 0.0070 | 52 | c.410 others(69): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGO4_chr1_35803016_35862890 | 35818658 | A | AAAGAAAG others(45): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 73 | 0.0137 | 52 | c.185 others(69): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGPAT2_chr9_136668143_136692457 | 136671087 | G | GGGCAGGC others(45): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0052 a0001c0001t0004g0132 |
2 | 372 | 0.0054 | 52 | c.*26 others(63): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 2055 | chr9 | TogoVar | |||||||
AGPAT2_chr9_136668143_136692457 | 136671235 | G | GGGCAGGC others(45): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 NA20805.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0011 | a0001c0001t0002g0147 a0002c0002t0011g0061 |
2 | 362 | 0.0055 | 52 | c.*24 others(63): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 1907 | chr9 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129365628 | G | GTATATAT others(45): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0215 | 1 | 144 | 0.0069 | 52 | c.364 others(71): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0203 | 1 | 103 | 0.0097 | 52 | c.-10 others(69): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(45): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 | 1 | 47 | 0.0213 | 52 | c.135 others(67): 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(45): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 47 | 0.0213 | 52 | c.135 others(67): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4666054 | A | AGGCACCC others(45): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(33): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0003a0001c0001t0040a0001c0001t0136others(29): Show | a0001c0001t0003g0059 a0001c0001t0040g0060 a0001c0001t0136g0068 others(33): Show |
36 | 332 | 0.1084 | 52 | c.29+ others(69): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4735254 | T | TATACATA others(45): Show |
intron_variant | MODIFIER | HG01261.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0062 a0001c0001t0006g0354 |
2 | 49 | 0.0408 | 52 | c.151 others(69): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4735360 | T | TACATATA others(45): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0359 | 1 | 426 | 0.0023 | 52 | c.151 others(69): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4735361 | A | ACATATAT others(45): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0367 | 1 | 333 | 0.0030 | 52 | c.151 others(69): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK7_chr14_96387128_96494427 | 96415748 | T | TAATTAAT others(45): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 225 | 0.0044 | 52 | c.499 others(69): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP10_chr17_19899302_19982828 | 19946205 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0122 | 1 | 160 | 0.0063 | 52 | c.976 others(69): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 5/14 | chr17 | TogoVar | |||||||
AKAP13_chr15_85375603_85754355 | 85498199 | G | GATATAGA others(45): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0153 | 1 | 29 | 0.0345 | 52 | c.33+ others(69): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85613694 | A | ATATGTGT others(45): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0004 | a0004c0021 | a0004c0021t0031 | a0004c0021t0031g0174 a0004c0021t0031g0175 |
2 | 311 | 0.0064 | 52 | c.416 others(73): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP14_chrX_119890893_119925716 | 119907418 | A | ACTGCGTG others(45): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 302 | 0.0033 | 52 | c.261 others(69): Show |
AKAP14 | ENSG00000186471.13 | transcript | ENST00000371431.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32454904 | T | TCTCCTTC others(45): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0145 | 1 | 69 | 0.0145 | 52 | c.324 others(71): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |