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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS18_chr16_77277128_77440034 | 77334581 | T | TTATAGTA others(45): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0007 | a0002c0007t0012 | a0002c0007t0012g0135 | 1 | 326 | 0.0031 | 52 | c.185 others(71): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179135130 | T | TCCAGCTC others(45): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18906.hp2 NA19240.hp1 |
a0001a0002 | a0001c0014a0001c0069a0002c0039 | a0001c0014t0002a0001c0069t0001a0002c0039t0002 | a0001c0014t0002g0131 a0001c0069t0001g0023 a0002c0039t0002g0204 |
3 | 276 | 0.0109 | 52 | c.208 others(69): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65230302 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02970.hp2 HG02976.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0002g0160 |
3 | 204 | 0.0147 | 52 | c.193 others(71): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65230302 | A | ATATATGA others(45): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0192 | 1 | 204 | 0.0049 | 52 | c.193 others(71): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18588884 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0082 | a0001c0082t0002 | a0001c0082t0002g0004 | 1 | 218 | 0.0046 | 52 | c.474 others(71): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18588884 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0022 | a0022c0033 | a0022c0033t0024 | a0022c0033t0024g0165 | 1 | 218 | 0.0046 | 52 | c.474 others(71): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83714785 | T | TTCTTTCT others(45): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0054 | a0002c0054t0001 | a0002c0054t0001g0024 | 1 | 274 | 0.0037 | 52 | c.189 others(71): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83903936 | A | AGGAAGGA others(45): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00735.hp1 others(34): Show |
a0001a0002a0004others(6): Show | a0001c0015a0002c0002a0002c0045others(10): Show | a0001c0015t0001a0002c0002t0001a0002c0045t0001others(11): Show | a0001c0015t0001g0065 a0001c0015t0001g0066 a0002c0002t0001g0072 others(34): Show |
37 | 274 | 0.1350 | 52 | c.170 others(71): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | chr15 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83903936 | A | AGGAAGGG others(45): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02015.hp1 HG03098.hp2 others(4): Show |
a0002a0004a0006others(2): Show | a0002c0002a0004c0004a0006c0046others(2): Show | a0002c0002t0001a0004c0004t0001a0006c0046t0005others(2): Show | a0002c0002t0001g0012 a0002c0002t0001g0043 a0002c0002t0001g0134 others(4): Show |
7 | 274 | 0.0256 | 52 | c.170 others(71): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | chr15 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83903936 | A | AGGGAGGG others(45): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02896.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 a0002c0002t0001g0113 |
2 | 274 | 0.0073 | 52 | c.170 others(71): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | chr15 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 942819 | G | GGAGTGAG others(45): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 14 | 0.0714 | 52 | c.83- others(67): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1575039 | T | TTGTAACA others(45): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(48): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(40): Show | a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0003g0098 others(48): Show |
51 | 106 | 0.4811 | 52 | c.100 others(73): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADCY2_chr5_7391138_7835081 | 7557192 | G | GATATATA others(45): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0016 | a0004c0016t0008 | a0004c0016t0008g0135 | 1 | 140 | 0.0071 | 52 | c.570 others(71): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7557192 | G | GATATATA others(45): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0011 | a0003c0011t0002 | a0003c0011t0002g0025 | 1 | 140 | 0.0071 | 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 | 260 | 0.0039 | 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 | a0001c0003t0018g0020 | 1 | 260 | 0.0039 | 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 a0008c0016t0003g0225 |
3 | 276 | 0.0109 | 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 | a0004c0012t0002g0125 a0005c0026t0001g0132 |
2 | 276 | 0.0073 | 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 | 120 | 0.0083 | 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 | 120 | 0.0083 | 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(90): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0111 others(90): Show |
93 | 242 | 0.3843 | 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 | a0001c0001t0016g0147 a0001c0001t0016g0182 a0001c0022t0016g0109 others(2): Show |
5 | 242 | 0.0207 | 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 | 242 | 0.0041 | 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 | a0001c0001t0001g0042 a0002c0002t0001g0304 a0003c0003t0002g0305 others(6): Show |
9 | 338 | 0.0266 | 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 | 218 | 0.0046 | 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 | 372 | 0.0027 | 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 | a0001c0001t0001g0151 | 1 | 372 | 0.0027 | 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 | a0001c0001t0001g0147 | 1 | 372 | 0.0027 | 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 a0003c0002t0001g0280 |
2 | 372 | 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 | a0001c0001t0007g0342 | 1 | 452 | 0.0022 | 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 | a0001c0001t0005g0334 | 1 | 452 | 0.0022 | 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 | a0001c0001t0004g0367 a0001c0001t0005g0365 |
2 | 452 | 0.0044 | 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 | a0001c0001t0001g0049 | 1 | 368 | 0.0027 | 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 | a0001c0001t0002g0053 | 1 | 402 | 0.0025 | 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 | a0001c0002t0029 | a0001c0002t0029g0149 | 1 | 169 | 0.0059 | 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 | a0001c0004t0095 | a0001c0004t0095g0113 | 1 | 169 | 0.0059 | 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 | a0001c0002t0034 | a0001c0002t0034g0077 | 1 | 169 | 0.0059 | 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 | 98 | 0.1225 | 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 | a0002c0002t0002g0085 | 1 | 356 | 0.0028 | 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 | 104 | 0.0096 | 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 | a0002c0003t0002g0330 | 1 | 438 | 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 | a0001c0001t0001g0109 | 1 | 236 | 0.0042 | 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 | a0001c0001t0003g0150 a0001c0001t0005g0039 |
2 | 236 | 0.0085 | 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 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0219 |
2 | 236 | 0.0085 | 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 | 236 | 0.0042 | 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 | a0001c0001t0003g0025 | 1 | 270 | 0.0037 | 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 | a0001c0001t0001g0214 a0001c0001t0004g0141 |
2 | 374 | 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 | a0001c0001t0002g0162 a0002c0002t0011g0056 |
2 | 374 | 0.0054 | 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 | 292 | 0.0034 | 52 | c.364 others(71): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |