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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM32_chr8_39102734_39289917 | 39158244 | G | GTGGATGA others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(240): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(238): Show | 243 | 257 | 0.9455 | 23 | c.526 others(40): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 6/24 | chr8 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8581130 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18975.hp1 NA18986.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117a0001c0002t0001g0244 | 2 | 384 | 0.0052 | 23 | c.320 others(40): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8612550 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 384 | 0.0026 | 23 | c.-21 others(34): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 1836 | chr19 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33849199 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01978.hp1 HG01981.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0062others(10): Show | 13 | 224 | 0.0580 | 23 | c.489 others(42): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33849266 | C | CATAGCTA others(16): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02818.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0198a0002c0002t0001g0045a0002c0002t0001g0197 | 3 | 224 | 0.0134 | 23 | c.489 others(42): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33849344 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0201 | 1 | 224 | 0.0045 | 23 | c.489 others(42): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33849481 | C | CAGCAATA others(16): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02280.hp2 HG02486.hp2 others(9): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0024a0001c0025others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0210a0001c0001t0003g0089a0001c0001t0003g0104others(9): Show | 12 | 224 | 0.0536 | 23 | c.489 others(42): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33849484 | C | CAATATAT others(16): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0027 | a0001c0027t0004 | a0001c0027t0004g0026 | 1 | 224 | 0.0045 | 23 | c.489 others(42): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133460471 | C | CGGCGGGG others(16): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01123.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0233a0003c0003t0001g0234a0003c0003t0001g0235others(2): Show | 5 | 364 | 0.0137 | 23 | c.*12 others(34): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 1086 | chr9 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314786 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0026 | a0026c0037 | a0026c0037t0028 | a0026c0037t0028g0144 | 1 | 326 | 0.0031 | 23 | c.253 others(42): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129645885 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03927.hp1 NA19000.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0003t0001a0001c0010t0001 | a0001c0001t0001g0188a0001c0003t0001g0213a0001c0010t0001g0058 | 3 | 226 | 0.0133 | 23 | c.187 others(42): 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(16): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0165 | 2 | 226 | 0.0089 | 23 | c.316 others(42): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0001a0002c0002t0001 | a0001c0001t0002g0047a0001c0001t0002g0178a0001c0003t0001g0211others(2): Show | 5 | 226 | 0.0221 | 23 | c.316 others(42): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18955.hp1 NA18968.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0160a0002c0002t0001g0075 | 3 | 226 | 0.0133 | 23 | c.316 others(42): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | chr5 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43420800 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01891.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0037a0001c0001t0003g0004a0001c0002t0001g0199others(4): Show | 7 | 306 | 0.0229 | 23 | c.428 others(42): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0110 | 1 | 306 | 0.0033 | 23 | c.161 others(42): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03017.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0163 | 3 | 306 | 0.0098 | 23 | c.161 others(42): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18941.hp1 NA18968.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0064a0001c0001t0001g0160a0001c0001t0001g0178others(1): Show | 4 | 306 | 0.0131 | 23 | c.161 others(42): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 306 | 0.0033 | 23 | c.161 others(42): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 306 | 0.0033 | 23 | c.161 others(42): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179184509 | T | TCAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 276 | 0.0036 | 23 | c.892 others(40): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179208214 | C | CCAAAGGA others(16): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02922.hp2 NA18522.hp1 |
a0001a0013 | a0001c0049a0013c0037 | a0001c0049t0004a0013c0037t0001 | a0001c0049t0004g0149a0013c0037t0001g0048a0013c0037t0001g0130 | 3 | 276 | 0.0109 | 23 | c.689 others(38): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179278051 | A | ACCCCCCA others(16): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0191 | 1 | 276 | 0.0036 | 23 | c.535 others(40): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179278073 | A | ACCCCCCC others(16): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18906.hp2 |
a0001a0012 | a0001c0068a0012c0055 | a0001c0068t0001a0012c0055t0001 | a0001c0068t0001g0023a0012c0055t0001g0019 | 2 | 276 | 0.0073 | 23 | c.535 others(40): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72400252 | G | GTGTATAT others(16): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01175.hp2 HG02071.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0017a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0023a0001c0017t0001others(2): Show | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0110others(4): Show | 7 | 182 | 0.0385 | 23 | c.661 others(42): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230302 | A | ATATGAAA others(16): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 204 | 0.0049 | 23 | c.193 others(42): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230731 | T | TATATAAT others(16): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0189a0001c0001t0005g0197 | 2 | 204 | 0.0098 | 23 | c.193 others(42): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688675 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0029 | a0029c0081 | a0029c0081t0003 | a0029c0081t0003g0002 | 1 | 218 | 0.0046 | 23 | c.157 others(42): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688679 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0007 | a0007c0050 | a0007c0050t0002 | a0007c0050t0002g0198 | 1 | 218 | 0.0046 | 23 | c.157 others(42): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0020 | a0003c0020t0002 | a0003c0020t0002g0197 | 1 | 218 | 0.0046 | 23 | c.157 others(42): 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(16): Show |
intron_variant | MODIFIER | NA19006.hp2 NA19057.hp2 |
a0001a0002 | a0001c0006a0002c0001 | a0001c0006t0001a0002c0001t0001 | a0001c0006t0001g0074a0002c0001t0001g0195 | 2 | 218 | 0.0092 | 23 | c.157 others(42): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18828660 | T | TTTATATA others(16): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18957.hp1 NA18970.hp2 others(1): Show |
a0001a0002a0003 | a0001c0008a0002c0018a0003c0019others(1): Show | a0001c0008t0004a0002c0018t0004a0003c0019t0001others(1): Show | a0001c0008t0004g0127a0002c0018t0004g0059a0003c0019t0001g0135others(1): Show | 4 | 218 | 0.0184 | 23 | c.411 others(42): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL5_chr19_1500022_1518019 | 1500696 | G | GAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059a0001c0001t0005g0161 | 2 | 352 | 0.0057 | 23 | c.*53 others(34): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4325 | chr19 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1237255 | G | GTCTCCCG others(16): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0013 | 1 | 106 | 0.0094 | 23 | c.136 others(42): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1237993 | C | CCCCTCTG others(16): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0007 | 1 | 106 | 0.0094 | 23 | c.136 others(42): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1239356 | C | CCCCTCTG others(16): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0043a0002c0002t0005g0033 | 2 | 106 | 0.0189 | 23 | c.136 others(42): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1240077 | C | CCCCTCTG others(16): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0043a0002c0002t0005g0033 | 2 | 106 | 0.0189 | 23 | c.136 others(42): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1280542 | C | CTGAAATT others(16): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02055.hp1 HG02109.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0022a0001c0003t0009a0002c0002t0002others(3): Show | a0001c0001t0022g0015a0001c0003t0009g0046a0002c0002t0002g0043others(5): Show | 8 | 106 | 0.0755 | 23 | c.107 others(42): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1280576 | A | AAGTGATG others(16): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0012a0001c0001t0030others(3): Show | a0001c0001t0001g0045a0001c0001t0012g0009a0001c0001t0030g0034others(4): Show | 7 | 106 | 0.0660 | 23 | c.107 others(42): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1417222 | C | CAAGAAGT others(16): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02040.hp1 NA18945.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0057a0002c0002t0007others(1): Show | a0001c0001t0003g0097a0001c0001t0057g0103a0002c0002t0007g0002others(2): Show | 5 | 106 | 0.0472 | 23 | c.101 others(42): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75615480 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0005 | a0004c0005t0012 | a0004c0005t0012g0102 | 1 | 348 | 0.0029 | 23 | c.424 others(40): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 5/9 | chr16 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0214 | 1 | 348 | 0.0029 | 23 | c.-17 others(34): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 NA19001.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0073 | a0002c0002t0001g0201a0002c0002t0073g0317 | 2 | 348 | 0.0058 | 23 | c.-17 others(34): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 286 | 0.0035 | 23 | c.220 others(40): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 286 | 0.0035 | 23 | c.220 others(40): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77894736 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0005 | 1 | 286 | 0.0035 | 23 | c.583 others(40): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77921326 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03834.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091a0001c0001t0002g0269 | 2 | 286 | 0.0070 | 23 | c.859 others(40): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77938169 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01258.hp2 others(32): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0002a0001c0001t0008a0001c0003t0002others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0017a0001c0001t0002g0021others(32): Show | 35 | 286 | 0.1224 | 23 | c.*47 others(34): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3156 | chr14 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144372905 | A | AGGGGCCA others(16): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0188 | 1 | 346 | 0.0029 | 23 | c.-11 others(34): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 1141 | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144372927 | A | AGGGGCCA others(16): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0173 | 1 | 346 | 0.0029 | 23 | c.-11 others(34): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 1119 | chr8 | TogoVar |