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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZSCAN22_chr19_58321994_58347332 | 58326659 | C | CTCAGCCT others(94): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 400 | 0.0025 | 101 | c.-50 others(110): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 334 | chr19 | TogoVar | ||||||
ZSCAN5A_chr19_56216303_56319839 | 56235113 | C | CCACTCCA others(94): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02145.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0153a0001c0001t0001g0230a0001c0001t0001g0231others(2): Show | 5 | 362 | 0.0138 | 101 | c.-12 others(120): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049719 | G | GCCCCCCC others(95): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0005 | a0005c0022 | a0005c0022t0001 | a0005c0022t0001g0004 | 1 | 30 | 0.0333 | 102 | c.255 others(119): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999858 | C | CTTTCTTT others(95): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0033 | a0001c0033t0015 | a0001c0033t0015g0098 | 1 | 249 | 0.0040 | 102 | c.49- others(117): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC2_chr10_99777640_99857594 | 99838949 | G | GGGCAGGG others(95): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0039 | 1 | 336 | 0.0030 | 102 | c.361 others(121): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43700732 | C | CCCAGCTA others(95): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02683.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0018 | a0001c0002t0005g0163a0001c0002t0018g0161 | 2 | 286 | 0.0070 | 102 | c.133 others(119): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1009530 | C | CCACGAGG others(95): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG02523.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0002g0088a0001c0001t0002g0151a0001c0001t0002g0152others(6): Show | 9 | 337 | 0.0267 | 102 | c.234 others(119): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 21/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1009569 | C | CCCGTTAC others(95): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0250 | 1 | 337 | 0.0030 | 102 | c.234 others(119): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 21/22 | chr17 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107529164 | G | GTGATGAT others(95): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01175.hp1 HG01433.hp1 others(6): Show |
a0001a0002a0015 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0030a0001c0012t0001others(2): Show | a0001c0001t0002g0085a0001c0001t0002g0086a0001c0001t0002g0093others(6): Show | 9 | 186 | 0.0484 | 102 | c.128 others(121): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAP3_chr1_1287391_1312930 | 1288519 | C | CTGCTCCG others(95): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 295 | 0.0034 | 102 | c.*50 others(113): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3871 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289093 | C | CCGTGTCT others(95): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 295 | 0.0034 | 102 | c.*44 others(113): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3297 | chr1 | TogoVar | ||||||
ACAT2_chr6_159757045_159784112 | 159769033 | T | TGGGGGGG others(95): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0117 | 1 | 404 | 0.0025 | 102 | c.490 others(117): Show |
ACAT2 | ENSG00000120437.9 | transcript | ENST00000367048.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ACSM2B_chr16_20531226_20581367 | 20566700 | A | ATATATAG others(95): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0005 | a0005c0016 | a0005c0016t0029 | a0005c0016t0029g0324 | 1 | 388 | 0.0026 | 102 | c.-8- others(117): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566734 | G | GTATATAC others(95): Show |
intron_variant | MODIFIER | NA18990.hp2 NA19081.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0306a0001c0006t0001g0307 | 2 | 388 | 0.0052 | 102 | c.-8- others(117): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38736571 | A | AGGGGCGT others(95): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0006 | a0001c0006t0046 | a0001c0006t0046g0238 | 1 | 314 | 0.0032 | 102 | c.*71 others(113): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4983 | chr19 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39045385 | G | GGTGTGTC others(95): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0256 | 1 | 332 | 0.0030 | 102 | c.130 others(121): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39045385 | G | GGTGTGTC others(95): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 332 | 0.0030 | 102 | c.130 others(121): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS13_chr9_133417367_133464386 | 133460459 | A | AGGGCGGG others(95): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0157 | 1 | 364 | 0.0028 | 102 | c.*12 others(113): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 1074 | chr9 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100225521 | C | CCTCTGTG others(95): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0052 | a0002c0052t0069 | a0002c0052t0069g0076 | 1 | 228 | 0.0044 | 102 | c.107 others(123): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77334289 | T | TAGTGTTA others(95): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp1 others(7): Show |
a0002a0005a0016 | a0002c0007a0002c0055a0005c0004others(1): Show | a0002c0007t0005a0002c0007t0036a0002c0007t0038others(3): Show | a0002c0007t0005g0009a0002c0007t0005g0091a0002c0007t0005g0309others(7): Show | 10 | 326 | 0.0307 | 102 | c.185 others(121): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72455988 | C | CAGTATAT others(95): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01081.hp1 HG02074.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0106a0001c0001t0002g0038a0001c0001t0002g0042others(13): Show | 16 | 182 | 0.0879 | 102 | c.505 others(121): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550081 | G | GGAAGAGG others(95): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0105a0001c0001t0002g0054 | 2 | 182 | 0.0110 | 102 | c.98- others(117): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230302 | A | ATATGAAA others(95): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 204 | 0.0049 | 102 | c.193 others(121): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230302 | A | ATATGAAA others(95): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 204 | 0.0049 | 102 | c.193 others(121): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83903924 | A | AGGAAGGA others(95): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0128 | 1 | 274 | 0.0037 | 102 | c.170 others(121): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83903948 | A | AGGAAGGA others(95): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0027 | a0027c0033 | a0027c0033t0001 | a0027c0033t0001g0240 | 1 | 274 | 0.0037 | 102 | c.170 others(121): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83903948 | A | AGGAAGGG others(95): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0018 | 1 | 274 | 0.0037 | 102 | c.170 others(121): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | chr15 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1459981 | A | AAACCTGC others(95): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0043 | 1 | 106 | 0.0094 | 102 | c.101 others(121): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1460168 | G | GAGTTTAC others(95): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03540.hp1 |
a0001a0008 | a0001c0007a0008c0013 | a0001c0007t0033a0008c0013t0020 | a0001c0007t0033g0041a0008c0013t0020g0037 | 2 | 106 | 0.0189 | 102 | c.101 others(121): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADGB_chr6_146593972_146820462 | 146691463 | T | TATATATA others(95): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03471.hp2 NA18522.hp1 |
a0005a0030 | a0005c0028a0030c0046 | a0005c0028t0001a0030c0046t0002 | a0005c0028t0001g0062a0005c0028t0001g0063a0030c0046t0002g0014 | 3 | 276 | 0.0109 | 102 | c.148 others(119): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRE3_chr19_14614117_14679844 | 14636040 | C | CCTTCCTT others(95): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0214 | 1 | 372 | 0.0027 | 102 | c.148 others(121): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/15 | chr19 | TogoVar | ||||||
ADGRG7_chr3_100604601_100700479 | 100604884 | C | CATATACA others(95): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG03041.hp2 others(3): Show |
a0001a0004a0006 | a0001c0008a0004c0004a0006c0007 | a0001c0008t0001a0004c0004t0002a0006c0007t0004 | a0001c0008t0001g0039a0004c0004t0002g0020a0004c0004t0002g0035others(3): Show | 6 | 340 | 0.0177 | 102 | c.-49 others(113): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 4716 | chr3 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90721576 | T | TAAAATAA others(95): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0059 | a0059c0053 | a0059c0053t0001 | a0059c0053t0001g0017 | 1 | 158 | 0.0063 | 102 | c.974 others(119): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 45/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148581478 | G | GTATACGT others(95): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02451.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0098a0001c0002t0094 | a0001c0001t0010g0115a0001c0001t0010g0116a0001c0001t0098g0119others(1): Show | 4 | 169 | 0.0237 | 102 | c.48- others(119): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFTPH_chr2_64519328_64598005 | 64584756 | C | CCGGCTAA others(95): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0221 | 1 | 372 | 0.0027 | 102 | c.254 others(119): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AHNAK2_chr14_104932253_104983374 | 104933657 | C | CGGGGCTG others(95): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 NA19030.hp2 |
a0100a0101 | a0100c0062a0101c0063 | a0100c0062t0002a0101c0063t0002 | a0100c0062t0002g0154a0101c0063t0002g0155 | 2 | 356 | 0.0056 | 102 | c.*44 others(113): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 3595 | chr14 | TogoVar | ||||||
AHNAK2_chr14_104932253_104983374 | 104933741 | C | CGGGAGGG others(95): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02451.hp2 |
a0078a0203 | a0078c0175a0203c0210 | a0078c0175t0002a0203c0210t0003 | a0078c0175t0002g0192a0203c0210t0003g0149 | 2 | 356 | 0.0056 | 102 | c.*43 others(113): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 3511 | chr14 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 415365 | C | CCCTGGTC others(95): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0086 | 1 | 268 | 0.0037 | 102 | c.441 others(119): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415429 | A | ATCTGCCT others(95): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0021 | 1 | 268 | 0.0037 | 102 | c.441 others(119): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415429 | A | ATCTGCCT others(95): Show |
intron_variant | MODIFIER | HG02698.hp1 HG04184.hp2 NA19002.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0043 | a0002c0002t0001g0122a0002c0002t0001g0167a0002c0002t0043g0166 | 3 | 268 | 0.0112 | 102 | c.441 others(119): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415429 | A | ATCTGCCT others(95): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03516.hp2 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0007 | a0001c0001t0001g0142a0004c0003t0007g0237 | 2 | 268 | 0.0075 | 102 | c.441 others(119): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415433 | G | GCCTGGTC others(95): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0004 | a0004c0003 | a0004c0003t0007 | a0004c0003t0007g0235 | 1 | 268 | 0.0037 | 102 | c.441 others(119): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415535 | G | GCCTGGTC others(95): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0004 | a0004c0003 | a0004c0003t0009 | a0004c0003t0009g0232 | 1 | 268 | 0.0037 | 102 | c.441 others(119): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415546 | T | TGGGAGGC others(95): Show |
intron_variant | MODIFIER | HG02896.hp1 HG06807.hp2 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0022a0004c0003t0022 | a0001c0001t0022g0238a0004c0003t0022g0243 | 2 | 268 | 0.0075 | 102 | c.441 others(119): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415565 | A | ATCTGCCT others(95): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0004 | a0004c0003 | a0004c0003t0014 | a0004c0003t0014g0240a0004c0003t0014g0244 | 2 | 268 | 0.0075 | 102 | c.441 others(119): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415580 | T | TGGGAGGC others(95): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0005 | a0005c0005 | a0005c0005t0015 | a0005c0005t0015g0182 | 1 | 268 | 0.0037 | 102 | c.441 others(119): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415614 | C | CGGGAGGC others(95): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0051 | a0002c0002t0051g0097 | 1 | 268 | 0.0037 | 102 | c.441 others(119): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415614 | C | CGGGAGGC others(95): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0004 | a0004c0003 | a0004c0003t0009 | a0004c0003t0009g0245 | 1 | 268 | 0.0037 | 102 | c.441 others(119): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415644 | G | GGGGCGGG others(95): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0004 | 1 | 268 | 0.0037 | 102 | c.441 others(119): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3690296 | C | CCCTCCCC others(95): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0160 | 1 | 274 | 0.0037 | 102 | c.512 others(119): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |