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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTL8_chr1_17750333_17832063 | 17816200 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(1): Show | a0001c0001t0001g0349a0001c0001t0005g0327a0001c0005t0001g0104others(4): Show | 7 | 366 | 0.0191 | 9 | c.-24 others(26): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTMAP_chr19_40735861_40755477 | 40753384 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG01257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0005a0001c0001t0005g0111a0001c0001t0005g0115others(1): Show | 7 | 426 | 0.0164 | 9 | c.-35 others(20): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2908 | chr19 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68881955 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00642.hp1 others(34): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0165others(34): Show | 37 | 284 | 0.1303 | 9 | c.195 others(26): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/21 | chr14 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38659065 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02040.hp2 HG02055.hp2 others(23): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0004a0001c0001t0006a0001c0001t0019others(4): Show | a0001c0001t0004g0221a0001c0001t0004g0255a0001c0001t0004g0256others(23): Show | 26 | 314 | 0.0828 | 9 | c.162 others(28): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38659065 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00735.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0022a0001c0002t0001a0001c0002t0007others(7): Show | a0001c0001t0022g0198a0001c0001t0022g0199a0001c0002t0001g0036others(15): Show | 18 | 314 | 0.0573 | 9 | c.162 others(28): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38728410 | G | GCTCCTCC others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0005 | a0001c0002t0001g0043a0001c0002t0001g0274a0001c0004t0005g0233 | 3 | 314 | 0.0096 | 9 | c.241 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38736008 | A | AGGTCTCG others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01257.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(5): Show | a0001c0001t0002g0093a0001c0001t0002g0112a0001c0001t0002g0123others(17): Show | 20 | 314 | 0.0637 | 9 | c.*65 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4420 | chr19 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65267862 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0063a0001c0001t0002g0253a0001c0001t0003g0025others(4): Show | 10 | 326 | 0.0307 | 9 | c.101 others(26): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152812019 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02027.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0208a0001c0001t0001g0212a0001c0001t0001g0220others(5): Show | 8 | 310 | 0.0258 | 9 | c.337 others(26): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3C_chr7_150242212_150328545 | 150248659 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02109.hp1 HG02109.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0044a0001c0001t0001g0210others(19): Show | 23 | 294 | 0.0782 | 9 | c.*38 others(24): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150250202 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02818.hp2 HG02886.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0210a0001c0001t0005g0198a0002c0002t0001g0011others(4): Show | 7 | 294 | 0.0238 | 9 | c.565 others(26): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTRT2_chr1_3016467_3027903 | 3016567 | A | AGGGACGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(56): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0000a0001c0004t0002g0000a0002c0002t0001g0000others(2): Show | 59 | 366 | 0.1612 | 9 | c.-51 others(20): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4899 | chr1 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51951578 | G | GCGCGGCG others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(97): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0041a0001c0001t0001g0049a0001c0001t0001g0121others(87): Show | 100 | 324 | 0.3086 | 9 | c.-16 others(18): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 120 | chr12 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147844400 | G | GGCCGCCG others(2): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 HG01934.hp2 HG02004.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024a0001c0002t0001g0047a0001c0002t0001g0049others(2): Show | 5 | 338 | 0.0148 | 9 | c.-75 others(18): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 628 | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147844409 | T | TGCCGCCG others(2): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 NA18941.hp2 NA18984.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0290a0001c0001t0002g0291a0001c0001t0003g0297others(1): Show | 4 | 338 | 0.0118 | 9 | c.-74 others(18): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 619 | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147845000 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00642.hp1 others(23): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0026 | a0001c0002t0001g0004a0001c0002t0001g0006a0001c0002t0001g0020others(23): Show | 26 | 338 | 0.0769 | 9 | c.-15 others(18): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 28 | chr2 | TogoVar | ||||||
ACY1_chr3_51978535_51994197 | 51990672 | T | TGCCGTCC others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG01934.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0012others(1): Show | 25 | 338 | 0.0740 | 9 | c.*15 others(20): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1476 | chr3 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53967649 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG01168.hp2 HG01169.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0001g0175a0001c0001t0001g0218a0001c0001t0001g0241others(12): Show | 15 | 272 | 0.0552 | 9 | c.-37 others(20): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3463 | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53969916 | C | CTTAAGAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02976.hp1 others(1): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0006a0003c0004t0007 | a0001c0002t0006g0005a0001c0002t0006g0006a0003c0004t0007g0003others(1): Show | 4 | 272 | 0.0147 | 9 | c.-14 others(20): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 1196 | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54019609 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01123.hp1 HG01168.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0016a0001c0002t0002g0042a0001c0002t0002g0048others(4): Show | 7 | 272 | 0.0257 | 9 | c.63- others(26): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54195794 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(67): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0117a0001c0001t0001g0127others(67): Show | 70 | 272 | 0.2574 | 9 | c.404 others(28): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM15_chr1_155046316_155067775 | 155046600 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00609.hp1 others(113): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0018others(62): Show | 116 | 324 | 0.3580 | 9 | c.-47 others(20): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 4715 | chr1 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9521840 | T | TCTTCCCT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00738.hp2 HG01109.hp2 others(50): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0012others(28): Show | a0001c0001t0004g0084a0001c0001t0007g0121a0001c0001t0012g0111others(50): Show | 53 | 234 | 0.2265 | 9 | c.844 others(24): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 7/18 | chr2 | TogoVar | ||||||
ADAM18_chr8_39579568_39735065 | 39580688 | C | CGGTCATG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(292): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0007others(20): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(21): Show | a0001c0001t0001g0046a0001c0001t0001g0090a0001c0001t0001g0135others(288): Show | 295 | 347 | 0.8501 | 9 | c.-39 others(20): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 3879 | chr8 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 87966721 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01981.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0021a0005c0005t0004 | a0001c0001t0001g0039a0001c0001t0001g0100a0001c0001t0001g0216others(2): Show | 5 | 230 | 0.0217 | 9 | c.247 others(28): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 87982699 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03239.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(2): Show | a0001c0001t0002g0096a0001c0001t0010g0170a0001c0001t0015g0188others(2): Show | 5 | 230 | 0.0217 | 9 | c.323 others(26): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | chr7 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206473572 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0042 | a0001c0001t0001g0005a0001c0001t0001g0317a0001c0001t0042g0295 | 4 | 358 | 0.0112 | 9 | c.433 others(26): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24325887 | A | ACAAACAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02071.hp2 HG02698.hp2 others(24): Show |
a0001a0002 | a0001c0017a0002c0003a0002c0031others(1): Show | a0001c0017t0002a0002c0003t0001a0002c0003t0002others(8): Show | a0001c0017t0002g0130a0002c0003t0001g0001a0002c0003t0001g0250others(19): Show | 27 | 348 | 0.0776 | 9 | c.891 others(24): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 9/22 | chr8 | TogoVar | ||||||
ADAM29_chr4_174913358_174983180 | 174928569 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(180): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0013others(160): Show | 183 | 330 | 0.5546 | 9 | c.-45 others(28): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAM32_chr8_39102734_39289917 | 39273529 | A | AAAAACAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(73): Show |
a0001a0002a0008 | a0001c0002a0002c0005a0008c0014 | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(2): Show | a0001c0002t0001g0145a0001c0002t0001g0147a0001c0002t0001g0161others(72): Show | 76 | 257 | 0.2957 | 9 | c.220 others(26): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39009964 | A | AAACAAAC others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01192.hp1 HG01257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0031a0001c0001t0001g0033others(11): Show | 14 | 332 | 0.0422 | 9 | c.196 others(26): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 2/21 | chr8 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133458555 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00609.hp1 others(50): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0005a0001c0010others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0050others(46): Show | 53 | 364 | 0.1456 | 9 | c.391 others(26): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTS14_chr10_70667506_70767441 | 70671096 | T | TCTCTCTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02630.hp1 HG03831.hp1 others(1): Show |
a0002a0003a0032 | a0002c0001a0003c0016a0032c0097 | a0002c0001t0001a0002c0001t0053a0003c0016t0015others(1): Show | a0002c0001t0001g0287a0002c0001t0053g0286a0003c0016t0015g0107others(1): Show | 4 | 354 | 0.0113 | 9 | c.-17 others(20): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1409 | chr10 | TogoVar | ||||||
ADAMTS15_chr11_130443645_130481645 | 130472680 | C | CCCTCCTC others(2): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03098.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0136a0001c0001t0005g0170a0001c0001t0005g0171others(2): Show | 5 | 398 | 0.0126 | 9 | c.207 others(26): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5137796 | G | GAGCGGGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(37): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0010a0001c0022others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(31): Show | a0001c0001t0001g0132a0001c0001t0003g0053a0001c0001t0017g0321others(37): Show | 40 | 332 | 0.1205 | 9 | c.-26 others(20): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 2533 | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5168352 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(43): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0010a0001c0022others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(37): Show | a0001c0001t0001g0315a0001c0001t0003g0329a0001c0001t0008g0044others(43): Show | 46 | 332 | 0.1386 | 9 | c.502 others(28): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5206425 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(30): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0022a0001c0032others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(26): Show | a0001c0001t0001g0042a0001c0001t0003g0329a0001c0001t0012g0234others(30): Show | 33 | 332 | 0.0994 | 9 | c.145 others(28): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100045142 | T | TAGTAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG02004.hp2 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0010a0001c0041others(10): Show | a0001c0002t0066a0001c0010t0020a0001c0041t0040others(11): Show | a0001c0002t0066g0213a0001c0010t0020g0004a0001c0010t0020g0018others(12): Show | 15 | 228 | 0.0658 | 9 | c.259 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100077461 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02451.hp2 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0047a0003c0006a0003c0013others(3): Show | a0001c0047t0005a0003c0006t0021a0003c0013t0001others(3): Show | a0001c0047t0005g0209a0003c0006t0021g0088a0003c0006t0021g0089others(4): Show | 7 | 228 | 0.0307 | 9 | c.213 others(30): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100091010 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03130.hp2 HG03540.hp1 others(2): Show |
a0001a0002 | a0001c0021a0002c0001a0002c0055others(2): Show | a0001c0021t0016a0002c0001t0016a0002c0055t0014others(2): Show | a0001c0021t0016g0113a0002c0001t0016g0205a0002c0055t0014g0002others(2): Show | 5 | 228 | 0.0219 | 9 | c.213 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100116132 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03225.hp1 HG03669.hp1 others(3): Show |
a0001a0002a0003 | a0001c0007a0001c0041a0002c0022others(2): Show | a0001c0007t0004a0001c0041t0040a0002c0022t0005others(3): Show | a0001c0007t0004g0137a0001c0041t0040g0165a0002c0022t0005g0181others(3): Show | 6 | 228 | 0.0263 | 9 | c.188 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 13/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100301320 | G | GGTTATAT others(2): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02129.hp2 HG02293.hp1 others(1): Show |
a0001a0003a0005 | a0001c0002a0003c0009a0003c0012others(1): Show | a0001c0002t0011a0003c0009t0003a0003c0012t0001others(1): Show | a0001c0002t0011g0160a0003c0009t0003g0043a0003c0012t0001g0131others(1): Show | 4 | 228 | 0.0175 | 9 | c.617 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 3/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77281484 | T | TTCCTGCC others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG02015.hp2 others(14): Show |
a0007a0009a0014others(1): Show | a0007c0010a0009c0009a0014c0015others(1): Show | a0007c0010t0001a0009c0009t0001a0009c0009t0014others(2): Show | a0007c0010t0001g0127a0009c0009t0001g0020a0009c0009t0001g0022others(14): Show | 17 | 326 | 0.0522 | 9 | c.*24 others(20): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 643 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77281489 | G | GCCCATCC others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(220): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0016a0001c0024others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(98): Show | a0001c0001t0001g0119a0001c0001t0002g0001a0001c0001t0002g0025others(219): Show | 223 | 326 | 0.6841 | 9 | c.*24 others(20): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 638 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77365179 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0016a0001c0023others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(95): Show | a0001c0001t0001g0119a0001c0001t0002g0001a0001c0001t0002g0025others(235): Show | 239 | 326 | 0.7331 | 9 | c.779 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77415725 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG02615.hp1 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0007a0003c0002others(3): Show | a0001c0001t0016a0002c0007t0005a0003c0002t0023others(4): Show | a0001c0001t0016g0137a0002c0007t0005g0005a0003c0002t0023g0271others(4): Show | 7 | 326 | 0.0215 | 9 | c.495 others(28): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129536933 | T | TAGCATTA others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0043 | 2 | 226 | 0.0089 | 9 | c.132 others(28): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129547282 | G | GGAAGCCT others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037a0001c0001t0002g0038a0001c0001t0002g0185 | 3 | 226 | 0.0133 | 9 | c.132 others(28): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129721829 | A | ACTTATGA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0001c0001t0007a0002c0004t0005 | a0001c0001t0005g0056a0001c0001t0005g0129a0001c0001t0005g0221others(3): Show | 6 | 226 | 0.0266 | 9 | c.331 others(30): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | C | CCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01433.hp2 HG02080.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0059others(6): Show | 9 | 306 | 0.0294 | 9 | c.428 others(28): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar |