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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACAP3_chr1_1287391_1312930 | 1288484 | TCTGCTCC others(29): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp2 NA19077.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0001 | a0001c0001t0002g0153a0003c0004t0001g0215 | 2 | 295 | 0.0068 | -36 | c.*50 others(47): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3906 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288943 | CCCCGAGT others(29): Show |
C | downstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 295 | 0.0034 | -36 | c.*45 others(47): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3447 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289093 | CCCCGTGT others(29): Show |
C | downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 295 | 0.0034 | -36 | c.*44 others(47): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3297 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289245 | CCGTGTCT others(29): Show |
C | downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 295 | 0.0034 | -36 | c.*42 others(47): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3145 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289498 | TCTGCTCC others(29): Show |
T | downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 295 | 0.0034 | -36 | c.*40 others(47): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2892 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289653 | CCGTGTCC others(29): Show |
C | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 295 | 0.0034 | -36 | c.*38 others(47): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2737 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1290110 | CCGTGTCT others(29): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02897.hp2 HG03139.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0007a0003c0004t0001g0211a0003c0004t0001g0215 | 3 | 295 | 0.0102 | -36 | c.*34 others(47): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2280 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1290137 | TCTGCTCC others(29): Show |
T | downstream_gene_variant | MODIFIER | HG02602.hp2 HG04115.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0220a0001c0002t0001g0043a0001c0002t0001g0044 | 3 | 295 | 0.0102 | -36 | c.*33 others(47): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2253 | chr1 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27193114 | CGTGTGTG others(29): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01069.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0001c0001t0009a0002c0004t0005 | a0001c0001t0005g0016a0001c0001t0005g0017a0001c0001t0005g0018others(13): Show | 16 | 384 | 0.0417 | -36 | c.*42 others(47): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 2099 | chr10 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76950352 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG01884.hp2 others(24): Show |
a0001 | a0001c0003 | a0001c0003t0026a0001c0003t0027a0001c0003t0130others(20): Show | a0001c0003t0026g0114a0001c0003t0026g0115a0001c0003t0026g0117others(24): Show | 27 | 346 | 0.0780 | -36 | c.215 others(53): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54599161 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 388 | 0.0026 | -36 | c.765 others(50): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54599165 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0171 | 1 | 388 | 0.0026 | -36 | c.765 others(50): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT12_chr5_81324996_81399134 | 81360393 | CTTTGCAA others(29): Show |
C | intron_variant | MODIFIER | HG01361.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0220 | 1 | 278 | 0.0036 | -36 | c.361 others(51): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 4/14 | chr5 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956945 | CTCTCTCT others(29): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0015 | 1 | 344 | 0.0029 | -36 | c.538 others(51): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956947 | CTCTCTCT others(29): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0010 | a0001c0010t0007 | a0001c0010t0007g0004 | 1 | 344 | 0.0029 | -36 | c.538 others(51): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956951 | CTCTCTCT others(29): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03139.hp1 HG03516.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0007a0003c0006t0016 | a0001c0001t0007g0028a0001c0001t0007g0044a0003c0006t0016g0316others(2): Show | 5 | 344 | 0.0145 | -36 | c.538 others(51): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58510687 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG02630.hp1 HG02717.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0026a0001c0001t0001g0029others(7): Show | 14 | 364 | 0.0385 | -36 | c.185 others(55): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58510695 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0124 | 1 | 364 | 0.0028 | -36 | c.185 others(55): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58537267 | AGCTCTCA others(29): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00735.hp2 others(35): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0002others(6): Show | a0001c0001t0002g0280a0001c0002t0001g0097a0001c0003t0002g0268others(35): Show | 38 | 364 | 0.1044 | -36 | c.-27 others(45): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 78 | chr3 | TogoVar | ||||||
ACP5_chr19_11569660_11582645 | 11580257 | CCCCCCAA others(29): Show |
C | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 444 | 0.0023 | -36 | c.-27 others(47): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 2613 | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6196051 | GGCTCTTG others(29): Show |
G | downstream_gene_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 262 | 0.0038 | -36 | c.*34 others(47): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 2961 | chr19 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20627846 | CTCTCTCT others(29): Show |
C | intron_variant | MODIFIER | HG01496.hp1 NA18906.hp2 |
a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0249a0005c0010t0002g0277 | 2 | 318 | 0.0063 | -36 | c.130 others(53): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20627869 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp1 others(8): Show |
a0001a0002a0004 | a0001c0008a0002c0004a0004c0013 | a0001c0008t0003a0002c0004t0001a0004c0013t0001 | a0001c0008t0003g0097a0001c0008t0003g0260a0002c0004t0001g0079others(8): Show | 11 | 318 | 0.0346 | -36 | c.130 others(53): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20635580 | TTTTCTTT others(29): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0184a0001c0005t0001g0078a0001c0005t0001g0226others(4): Show | 7 | 318 | 0.0220 | -36 | c.129 others(55): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20458897 | TATATATG others(29): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(178): Show |
a0002a0003a0004others(8): Show | a0002c0002a0002c0022a0003c0003others(11): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(29): Show | a0002c0002t0002g0199a0002c0002t0002g0204a0002c0002t0002g0219others(157): Show | 181 | 436 | 0.4151 | -36 | c.-8- others(51): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACTN1_chr14_68869128_68984302 | 68976934 | AGCCCTGG others(29): Show |
A | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0272 | 1 | 284 | 0.0035 | -36 | c.105 others(53): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38673654 | TTTATATA others(29): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0018 | a0001c0002t0040a0001c0007t0001a0005c0018t0001 | a0001c0002t0040g0203a0001c0007t0001g0200a0001c0007t0001g0202others(2): Show | 5 | 314 | 0.0159 | -36 | c.162 others(55): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38736008 | AGGTCTCG others(29): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01168.hp2 others(5): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0008a0001c0005t0018others(2): Show | a0001c0005t0001g0304a0001c0005t0008g0001a0001c0005t0008g0004others(5): Show | 8 | 314 | 0.0255 | -36 | c.*65 others(47): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4420 | chr19 | TogoVar | ||||||
ACTR5_chr20_38743460_38777520 | 38748031 | AGGTGCGC others(29): Show |
A | upstream_gene_variant | MODIFIER | HG02809.hp1 HG03225.hp1 HG03579.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0059a0002c0003t0001g0060a0002c0003t0001g0072 | 3 | 366 | 0.0082 | -36 | c.-44 others(45): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 428 | chr20 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169766760 | TGCATACC others(29): Show |
T | downstream_gene_variant | MODIFIER | NA18960.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0031 | 1 | 418 | 0.0024 | -36 | c.*63 others(45): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 160 | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38492731 | TACACACA others(29): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00673.hp2 others(58): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0042others(8): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023others(28): Show | 61 | 410 | 0.1488 | -36 | c.*94 others(47): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9437 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACVR2B_chr3_38448890_38498142 | 38492769 | CACACACA others(29): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0036a0001c0003t0077a0001c0003t0082 | a0001c0003t0036g0039a0001c0003t0036g0058a0001c0003t0077g0003others(1): Show | 4 | 410 | 0.0098 | -36 | c.*94 others(47): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9442 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACYP2_chr2_53966113_54310300 | 54197916 | TATTTTAT others(29): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01081.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0002 | a0001c0001t0001g0143a0001c0001t0001g0145a0001c0001t0001g0196others(16): Show | 19 | 272 | 0.0699 | -36 | c.404 others(55): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | chr2 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17205861 | TGCTGACA others(29): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02615.hp2 HG02630.hp2 others(11): Show |
a0001a0002 | a0001c0005a0002c0002a0002c0009 | a0001c0005t0002a0002c0002t0003a0002c0002t0007others(2): Show | a0001c0005t0002g0203a0001c0005t0002g0205a0001c0005t0002g0210others(11): Show | 14 | 408 | 0.0343 | -36 | c.542 others(53): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17222472 | GTGTGTAT others(29): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG03486.hp1 others(2): Show |
a0001a0002 | a0001c0005a0002c0002a0002c0007 | a0001c0005t0002a0002c0002t0001a0002c0002t0010others(2): Show | a0001c0005t0002g0033a0002c0002t0001g0031a0002c0002t0010g0032others(2): Show | 5 | 408 | 0.0123 | -36 | c.-31 others(47): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3038 | chr22 | TogoVar | ||||||
ADAM15_chr1_155046316_155067775 | 155048733 | CAGAAAAG others(29): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0084a0001c0002t0001g0091 | 9 | 324 | 0.0278 | -36 | c.-26 others(47): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 2582 | chr1 | TogoVar | ||||||
ADAM18_chr8_39579568_39735065 | 39696284 | AATTCCTT others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(159): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(8): Show | a0001c0001t0001g0046a0001c0001t0001g0090a0001c0001t0001g0135others(158): Show | 162 | 347 | 0.4669 | -36 | c.190 others(55): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 17/19 | chr8 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977349 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0043 | a0001c0043t0052 | a0001c0043t0052g0124 | 1 | 228 | 0.0044 | -36 | c.295 others(55): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129578103 | CATATGCA others(29): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01243.hp2 HG01884.hp1 others(13): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0034a0001c0001t0001g0039a0001c0001t0001g0189others(13): Show | 16 | 226 | 0.0708 | -36 | c.137 others(57): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS2_chr5_179105853_179350461 | 179217760 | AGGGGGGA others(29): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(34): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0064others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0006others(24): Show | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0100others(34): Show | 37 | 276 | 0.1341 | -36 | c.689 others(55): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550039 | AGAAGAGG others(29): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02074.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0033 | a0002c0002t0001g0103a0002c0002t0033g0182 | 2 | 182 | 0.0110 | -36 | c.98- others(51): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18756076 | AATATATA others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(51): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0005others(26): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(41): Show | a0001c0002t0001g0052a0001c0002t0002g0061a0001c0002t0002g0066others(51): Show | 54 | 218 | 0.2477 | -36 | c.221 others(55): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83714860 | CCCTCCCT others(29): Show |
C | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 274 | 0.0037 | -36 | c.189 others(55): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83714864 | CCCTCCCT others(29): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0015a0002c0002others(7): Show | a0001c0001t0001a0001c0015t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0146a0001c0001t0001g0156a0001c0001t0001g0159others(36): Show | 39 | 274 | 0.1423 | -36 | c.189 others(55): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83714868 | CCCTCCCT others(29): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0167 | 1 | 274 | 0.0037 | -36 | c.189 others(55): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83823893 | CTCTTCTT others(29): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02129.hp2 HG02622.hp1 others(10): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0008a0002c0060others(4): Show | a0001c0001t0001a0002c0008t0001a0002c0060t0001others(4): Show | a0001c0001t0001g0194a0001c0001t0001g0198a0001c0001t0001g0211others(10): Show | 13 | 274 | 0.0475 | -36 | c.600 others(53): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83823939 | TCTTCTTC others(29): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01496.hp1 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0011a0005c0005t0002g0019a0005c0005t0002g0027others(1): Show | 4 | 274 | 0.0146 | -36 | c.600 others(53): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45133850 | GGTGTGCG others(29): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 |
a0001 | a0001c0002 | a0001c0002t0055a0001c0002t0061 | a0001c0002t0055g0121a0001c0002t0061g0033 | 2 | 350 | 0.0057 | -36 | c.-48 others(53): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB2_chr10_1172313_1742525 | 1205346 | TGGAGCCC others(29): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG02258.hp2 NA19043.hp2 |
a0002a0003 | a0002c0002a0002c0004a0003c0006 | a0002c0002t0005a0002c0004t0005a0003c0006t0067 | a0002c0002t0005g0028a0002c0004t0005g0029a0003c0006t0067g0080 | 3 | 106 | 0.0283 | -36 | c.168 others(55): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1298720 | ATTTTTTT others(29): Show |
A | intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0002 | 1 | 106 | 0.0094 | -36 | c.107 others(57): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar |