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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSL5_chr10_112369116_112433376 | 112423215 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 364 | 0.0028 | 31 | c.159 others(48): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112423217 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 364 | 0.0028 | 31 | c.159 others(48): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112423219 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG00639.hp1 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224a0001c0001t0001g0255 | 2 | 364 | 0.0055 | 31 | c.159 others(48): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112423221 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18966.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0244a0001c0001t0001g0253a0001c0001t0002g0099 | 3 | 364 | 0.0082 | 31 | c.159 others(48): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | chr10 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566645 | C | CTATATAT others(24): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 2 | 388 | 0.0052 | 31 | c.-8- others(46): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169770425 | T | TATAAATA others(24): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01168.hp1 HG02698.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 7 | 418 | 0.0168 | 31 | c.-90 others(40): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 865 | chr3 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169770536 | T | TATAAATA others(24): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG02818.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005 | 4 | 418 | 0.0096 | 31 | c.-10 others(42): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 976 | chr3 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169770930 | A | AATAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 418 | 0.0024 | 31 | c.-14 others(42): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1370 | chr3 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169771253 | A | ATTTATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 418 | 0.0024 | 31 | c.-17 others(42): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1693 | chr3 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169771261 | A | ATCATAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 418 | 0.0024 | 31 | c.-17 others(42): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1701 | chr3 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169771263 | C | CATAAATA others(24): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01069.hp1 others(53): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0005a0005c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(4): Show | 56 | 418 | 0.1340 | 31 | c.-17 others(42): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1703 | chr3 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169771263 | C | CATAAATA others(24): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0013 | 2 | 418 | 0.0048 | 31 | c.-17 others(42): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1703 | chr3 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169771356 | A | AATATAAA others(24): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 418 | 0.0048 | 31 | c.-18 others(42): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1796 | chr3 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169771429 | T | TTGTTTAT others(24): Show |
upstream_gene_variant | MODIFIER | NA19055.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 418 | 0.0048 | 31 | c.-19 others(42): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1869 | chr3 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0003a0002c0006t0008 | a0002c0002t0003g0039a0002c0006t0008g0364 | 2 | 408 | 0.0049 | 31 | c.973 others(46): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG03654.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0002others(1): Show | a0001c0003t0003a0001c0004t0001a0002c0002t0003others(1): Show | a0001c0003t0003g0097a0001c0004t0001g0224a0002c0002t0003g0092others(2): Show | 5 | 408 | 0.0123 | 31 | c.973 others(46): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0106 | 1 | 408 | 0.0025 | 31 | c.973 others(46): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0053 | 1 | 252 | 0.0040 | 31 | c.114 others(50): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 87982699 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01517.hp2 HG03017.hp1 HG03041.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0012a0001c0001t0002g0014a0001c0001t0002g0098others(4): Show | 7 | 230 | 0.0304 | 31 | c.323 others(48): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0196 | 1 | 230 | 0.0044 | 31 | c.324 others(50): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM7_chr8_24436026_24514565 | 24507182 | T | TGAAAATC others(24): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0122 | 1 | 360 | 0.0028 | 31 | c.220 others(48): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS14_chr10_70667506_70767441 | 70759132 | T | TTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(71): Show |
a0001a0003a0004others(10): Show | a0001c0002a0001c0005a0001c0007others(23): Show | a0001c0002t0002a0001c0002t0013a0001c0002t0014others(41): Show | a0001c0002t0002g0147a0001c0002t0002g0151a0001c0002t0002g0154others(70): Show | 74 | 354 | 0.2090 | 31 | c.317 others(48): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TTATATAT others(24): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02071.hp1 HG02523.hp2 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0021a0002c0001a0002c0057others(3): Show | a0001c0021t0005a0002c0001t0055a0002c0001t0056others(4): Show | a0001c0021t0005g0219a0002c0001t0055g0087a0002c0001t0056g0074others(4): Show | 7 | 228 | 0.0307 | 31 | c.118 others(50): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162604 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0065 | a0002c0065t0008 | a0002c0065t0008g0127 | 1 | 228 | 0.0044 | 31 | c.118 others(50): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162612 | T | TGCACATA others(24): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0046 | a0001c0046t0008 | a0001c0046t0008g0112 | 1 | 228 | 0.0044 | 31 | c.118 others(50): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162635 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0079 | 1 | 228 | 0.0044 | 31 | c.118 others(50): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162666 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02965.hp1 |
a0005a0006 | a0005c0020a0006c0049 | a0005c0020t0005a0006c0049t0015 | a0005c0020t0005g0220a0005c0020t0005g0221a0006c0049t0015g0210 | 3 | 228 | 0.0132 | 31 | c.118 others(50): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162705 | T | TGCACATA others(24): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03195.hp2 |
a0007a0011 | a0007c0023a0011c0053 | a0007c0023t0001a0011c0053t0001 | a0007c0023t0001g0072a0011c0053t0001g0177 | 2 | 228 | 0.0088 | 31 | c.118 others(50): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314786 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0003 | a0003c0002 | a0003c0002t0006 | a0003c0002t0006g0084 | 1 | 326 | 0.0031 | 31 | c.253 others(50): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77334722 | C | CTATAGTA others(24): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02300.hp2 |
a0011a0020 | a0011c0043a0020c0027 | a0011c0043t0046a0020c0027t0006 | a0011c0043t0046g0192a0020c0027t0006g0193 | 2 | 326 | 0.0061 | 31 | c.185 others(50): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129645885 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01169.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018a0001c0001t0002g0225 | 2 | 226 | 0.0089 | 31 | c.187 others(50): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAAAATAT others(24): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 226 | 0.0044 | 31 | c.316 others(50): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 306 | 0.0033 | 31 | c.161 others(50): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA18984.hp1 NA18986.hp2 |
a0001a0013 | a0001c0001a0013c0018 | a0001c0001t0001a0013c0018t0001 | a0001c0001t0001g0222a0013c0018t0001g0233 | 2 | 306 | 0.0065 | 31 | c.161 others(50): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 306 | 0.0033 | 31 | c.161 others(50): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA19010.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0048 | 2 | 306 | 0.0065 | 31 | c.161 others(50): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA18974.hp2 NA18986.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0037a0001c0001t0001g0058 | 3 | 306 | 0.0098 | 31 | c.161 others(50): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179212619 | G | GGTCCTGA others(24): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02717.hp1 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0014a0001c0070others(2): Show | a0001c0001t0004a0001c0014t0002a0001c0014t0013others(3): Show | a0001c0001t0004g0122a0001c0014t0002g0073a0001c0014t0013g0112others(3): Show | 6 | 276 | 0.0217 | 31 | c.689 others(48): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179217855 | G | GGGATGGC others(24): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02723.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0052a0001c0070a0002c0012others(2): Show | a0001c0052t0002a0001c0070t0001a0002c0012t0001others(2): Show | a0001c0052t0002g0148a0001c0070t0001g0084a0002c0012t0001g0056others(2): Show | 5 | 276 | 0.0181 | 31 | c.689 others(50): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530222 | A | ATATTATA others(24): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0162 | 1 | 182 | 0.0055 | 31 | c.504 others(50): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688687 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0022 | a0022c0041 | a0022c0041t0033 | a0022c0041t0033g0013 | 1 | 218 | 0.0046 | 31 | c.157 others(50): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 |
a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0069a0001c0008t0002g0070 | 2 | 218 | 0.0092 | 31 | c.157 others(50): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAAAT others(24): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0093 | 1 | 218 | 0.0046 | 31 | c.157 others(50): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAATAT others(24): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0091 | 1 | 218 | 0.0046 | 31 | c.157 others(50): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18866116 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01358.hp2 HG02723.hp2 others(1): Show |
a0001a0006 | a0001c0003a0001c0005a0006c0014 | a0001c0003t0003a0001c0005t0003a0006c0014t0003 | a0001c0003t0003g0015a0001c0003t0003g0121a0001c0005t0003g0029others(1): Show | 4 | 218 | 0.0184 | 31 | c.425 others(52): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18910292 | T | TTGGGAGG others(24): Show |
3_prime_UTR_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0011 | a0003c0011t0021 | a0003c0011t0021g0204 | 1 | 218 | 0.0046 | 31 | c.*17 others(42): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 29/29 | 1745 | chr9 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83806139 | C | CCTGAGGC others(24): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(254): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0015a0001c0057others(56): Show | a0001c0001t0001a0001c0001t0006a0001c0015t0001others(64): Show | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0053others(254): Show | 257 | 274 | 0.9380 | 31 | c.363 others(48): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADARB2_chr10_1172313_1742525 | 1327558 | G | GTTCAGTG others(24): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 106 | 0.0094 | 31 | c.107 others(52): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1632271 | A | ACACACAC others(24): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0017 | 1 | 106 | 0.0094 | 31 | c.100 others(52): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 286 | 0.0035 | 31 | c.220 others(48): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |