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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM11_chr17_44753988_44786846 | 44774693 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(65): Show |
a0001a0003a0007 | a0001c0002a0001c0007a0003c0008others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(10): Show | a0001c0002t0002g0173a0001c0002t0003g0011a0001c0002t0003g0012others(56): Show | 68 | 336 | 0.2024 | 0 | c.116 others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 13/26 | chr17 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126039436 | C | G | splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG02717.hp2 HG03139.hp2 others(3): Show |
a0001a0002a0010 | a0001c0012a0002c0023a0010c0058 | a0001c0012t0014a0002c0023t0026a0010c0058t0014 | a0001c0012t0014g0079a0001c0012t0014g0085a0001c0012t0014g0180others(3): Show | 6 | 252 | 0.0238 | 0 | c.210 others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 18/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126064802 | G | A | splice_region_variant others(1): Show |
LOW | HG02738.hp1 NA18998.hp2 NA19070.hp1 |
a0002 | a0002c0001a0002c0023 | a0002c0001t0005a0002c0023t0026 | a0002c0001t0005g0080a0002c0023t0026g0073a0002c0023t0026g0229 | 3 | 252 | 0.0119 | 0 | c.160 others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126155309 | C | T | splice_region_variant others(1): Show |
LOW | NA18966.hp2 | a0004 | a0004c0047 | a0004c0047t0004 | a0004c0047t0004g0164 | 1 | 252 | 0.0040 | 0 | c.261 others(5): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126278907 | T | C | splice_region_variant others(1): Show |
LOW | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 252 | 0.0040 | 0 | c.260 others(5): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM15_chr1_155046316_155067775 | 155060832 | G | A | splice_region_variant others(1): Show |
LOW | HG00735.hp2 HG01074.hp1 HG01192.hp1 others(11): Show |
a0001a0003 | a0001c0010a0001c0012a0003c0007 | a0001c0010t0001a0001c0012t0001a0003c0007t0001 | a0001c0010t0001g0037a0001c0010t0001g0090a0001c0012t0001g0031others(3): Show | 14 | 324 | 0.0432 | 0 | c.227 others(4): Show |
p.Lys others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 19/23 | 2348/2936 | 2277/2592 | 759/863 | chr1 | TogoVar | ||
ADAM17_chr2_9483486_9560830 | 9536827 | G | C | missense_variant others(1): Show |
MODERATE | HG02965.hp1 NA20300.hp1 |
a0003 | a0003c0004 | a0003c0004t0008a0003c0004t0016 | a0003c0004t0008g0159a0003c0004t0016g0160 | 2 | 234 | 0.0086 | 0 | c.232 others(3): Show |
p.His others(5): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 3/19 | 457/4391 | 232/2475 | 78/824 | chr2 | TogoVar | ||
ADAM18_chr8_39579568_39735065 | 39606304 | T | C | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00544.hp2 HG00609.hp2 others(69): Show |
a0001a0005a0014 | a0001c0001a0001c0002a0005c0016others(1): Show | a0001c0001t0001a0001c0002t0001a0005c0016t0001others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0090a0001c0001t0001g0135others(68): Show | 72 | 347 | 0.2075 | 0 | c.133 others(5): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 2/19 | chr8 | TogoVar | ||||||
ADAM18_chr8_39579568_39735065 | 39677543 | A | G | splice_region_variant others(1): Show |
LOW | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 347 | 0.0029 | 0 | c.163 others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 15/19 | chr8 | TogoVar | ||||||
ADAM19_chr5_157472304_157580775 | 157507147 | G | T | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02145.hp2 HG02559.hp2 others(5): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0008a0004c0004t0010a0004c0004t0018others(1): Show | a0002c0002t0008g0291a0004c0004t0010g0088a0004c0004t0010g0237others(5): Show | 8 | 310 | 0.0258 | 0 | c.906 others(5): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 9/22 | chr5 | TogoVar | ||||||
ADAM20_chr14_70517358_70540004 | 70524933 | A | C | splice_region_variant | LOW | HG00323.hp1 HG00423.hp2 HG00438.hp2 others(98): Show |
a0001a0003a0007 | a0001c0001a0001c0006a0003c0004others(1): Show | a0001c0001t0002a0001c0006t0002a0003c0004t0002others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0013others(18): Show | 101 | 400 | 0.2525 | 0 | c.-17 others(4): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | chr14 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88125659 | G | A | splice_region_variant others(1): Show |
LOW | HG03471.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0011 | 1 | 230 | 0.0044 | 0 | c.678 others(3): Show |
p.Gln others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 8/32 | 893/9508 | 678/2895 | 226/964 | chr7 | TogoVar | ||
ADAM22_chr7_87929251_88207889 | 88145408 | T | G | splice_region_variant others(1): Show |
LOW | HG02723.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0079 | 2 | 230 | 0.0087 | 0 | c.139 others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 16/31 | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88145412 | T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00423.hp1 HG00609.hp2 others(21): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019others(21): Show | 24 | 230 | 0.1044 | 0 | c.139 others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 16/31 | chr7 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206594737 | T | C | splice_region_variant others(1): Show |
LOW | HG01884.hp1 | a0001 | a0001c0005 | a0001c0005t0027 | a0001c0005t0027g0188 | 1 | 358 | 0.0028 | 0 | c.207 others(4): Show |
p.Ser others(6): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 23/26 | 2414/6334 | 2079/2499 | 693/832 | chr2 | TogoVar | ||
ADAM28_chr8_24289069_24364014 | 24294203 | T | C | splice_region_variant others(1): Show |
LOW | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0017 | 1 | 348 | 0.0029 | 0 | c.46+ others(4): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 1/22 | chr8 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24331331 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(108): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0025others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0186others(101): Show | 111 | 348 | 0.3190 | 0 | c.128 others(6): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 12/22 | chr8 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24353765 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0013others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(316): Show | 337 | 348 | 0.9684 | 0 | c.224 others(6): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 21/22 | chr8 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24354371 | A | ATGTC | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(336): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0013others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(318): Show | 339 | 348 | 0.9741 | 4 | c.230 others(18): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM2_chr8_39738735_39843227 | 39744897 | C | A | splice_region_variant others(1): Show |
LOW | HG01884.hp1 | a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0294 | 1 | 329 | 0.0030 | 0 | c.217 others(6): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 19/20 | chr8 | TogoVar | ||||||
ADAM2_chr8_39738735_39843227 | 39774918 | TACTCTAA others(11035): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02080.hp1 | a0012 | a0012c0019 | a0012c0019t0001 | a0012c0019t0001g0123 | 1 | 329 | 0.0030 | -11042 | c.891 others(18): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 11/21 | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39254514 | T | C | missense_variant others(1): Show |
MODERATE | HG02257.hp2 HG02258.hp2 HG02615.hp2 others(15): Show |
a0003a0004a0007others(2): Show | a0003c0004a0004c0007a0007c0009others(2): Show | a0003c0004t0001a0003c0004t0002a0004c0007t0001others(3): Show | a0003c0004t0001g0133a0003c0004t0001g0134a0003c0004t0001g0135others(15): Show | 18 | 257 | 0.0700 | 0 | c.200 others(4): Show |
p.Met others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 18/25 | 2045/2524 | 2003/2364 | 668/787 | chr8 | TogoVar | ||
ADAM32_chr8_39102734_39289917 | 39270868 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(74): Show |
a0001a0002a0008 | a0001c0002a0002c0005a0008c0014 | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(2): Show | a0001c0002t0001g0145a0001c0002t0001g0147a0001c0002t0001g0161others(73): Show | 77 | 257 | 0.2996 | 0 | c.216 others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 19/24 | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39283580 | C | G | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00621.hp2 HG01192.hp2 others(15): Show |
a0002a0005a0006others(1): Show | a0002c0003a0002c0005a0005c0006others(2): Show | a0002c0003t0001a0002c0003t0002a0002c0005t0001others(5): Show | a0002c0003t0001g0180a0002c0003t0001g0181a0002c0003t0001g0207others(15): Show | 18 | 257 | 0.0700 | 0 | c.231 others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 23/24 | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39284793 | T | A | missense_variant others(1): Show |
MODERATE | HG02615.hp2 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0137 | 1 | 257 | 0.0039 | 0 | c.235 others(4): Show |
p.Ser others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 25/25 | 2400/2524 | 2358/2364 | 786/787 | chr8 | TogoVar | ||
ADAM33_chr20_3662975_3687010 | 3672331 | TGCGCA | T | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01884.hp2 HG02258.hp2 others(15): Show |
a0001a0009a0017 | a0001c0006a0001c0023a0009c0016others(1): Show | a0001c0006t0005a0001c0006t0006a0001c0023t0005others(2): Show | a0001c0006t0005g0273a0001c0006t0005g0372a0001c0006t0006g0041others(14): Show | 18 | 462 | 0.0390 | -5 | c.140 others(18): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 13/21 | chr20 | TogoVar | ||||||
ADAM33_chr20_3662975_3687010 | 3672334 | G | A | splice_region_variant others(1): Show |
LOW | NA20129.hp1 | a0006 | a0006c0019 | a0006c0019t0025 | a0006c0019t0025g0238 | 1 | 462 | 0.0022 | 0 | c.140 others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 13/21 | chr20 | TogoVar | ||||||
ADAM33_chr20_3662975_3687010 | 3673574 | C | A | splice_region_variant others(1): Show |
LOW | HG02027.hp2 | a0000 | a0000c0039 | a0000c0039t0007 | a0000c0039t0007g0303 | 1 | 462 | 0.0022 | 0 | c.990 others(3): Show |
p.Thr others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 10/22 | 996/3436 | 990/2442 | 330/813 | chr20 | TogoVar | ||
ADAM33_chr20_3662975_3687010 | 3673740 | C | G | splice_region_variant others(1): Show |
LOW | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0169 | 1 | 462 | 0.0022 | 0 | c.905 others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 9/21 | chr20 | TogoVar | ||||||
ADAM33_chr20_3662975_3687010 | 3674857 | G | A | splice_region_variant others(1): Show |
LOW | NA18982.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 462 | 0.0043 | 0 | c.334 others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 4/21 | chr20 | TogoVar | ||||||
ADAM33_chr20_3662975_3687010 | 3675110 | G | A | splice_region_variant others(1): Show |
LOW | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 462 | 0.0022 | 0 | c.255 others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 3/21 | chr20 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24442470 | T | C | splice_region_variant others(1): Show |
LOW | HG02572.hp1 HG02970.hp1 HG03139.hp2 |
a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0011a0003c0011t0001g0074 | 3 | 360 | 0.0083 | 0 | c.53- others(4): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 1/21 | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24466989 | GTGAGTAC others(23): Show |
G | splice_region_variant others(1): Show |
LOW | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 360 | 0.0028 | -30 | c.579 others(42): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM7_chr8_24436026_24514565 | 24487317 | G | A | missense_variant others(1): Show |
MODERATE | NA18952.hp2 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0122 | 1 | 360 | 0.0028 | 0 | c.109 others(4): Show |
p.Ser others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 11/22 | 1174/3367 | 1091/2265 | 364/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24491904 | T | C | missense_variant others(1): Show |
MODERATE | HG01081.hp1 HG01192.hp1 HG01358.hp1 others(8): Show |
a0004a0011 | a0004c0005a0011c0023 | a0004c0005t0001a0011c0023t0001 | a0004c0005t0001g0002a0004c0005t0001g0017a0004c0005t0001g0086others(6): Show | 11 | 360 | 0.0306 | 0 | c.135 others(4): Show |
p.Ile others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 14/22 | 1441/3367 | 1358/2265 | 453/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24499233 | T | C | splice_region_variant others(1): Show |
LOW | HG00733.hp1 HG00738.hp2 HG02145.hp1 others(18): Show |
a0003a0005a0006others(2): Show | a0003c0009a0005c0006a0006c0014others(2): Show | a0003c0009t0005a0005c0006t0001a0006c0014t0005others(2): Show | a0003c0009t0005g0020a0003c0009t0005g0034a0003c0009t0005g0165others(14): Show | 21 | 360 | 0.0583 | 0 | c.184 others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 16/21 | chr8 | TogoVar | ||||||
ADAM8_chr10_133257423_133281868 | 133270728 | C | CAGA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(321): Show |
a0001a0003a0004others(21): Show | a0001c0001a0001c0002a0001c0007others(30): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(140): Show | 324 | 386 | 0.8394 | 3 | c.163 others(16): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 15/22 | chr10 | TogoVar | ||||||
ADAM8_chr10_133257423_133281868 | 133271798 | C | T | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02280.hp1 HG02451.hp2 others(15): Show |
a0001a0004 | a0001c0007a0004c0005a0004c0026 | a0001c0007t0002a0004c0005t0002a0004c0026t0002 | a0001c0007t0002g0035a0001c0007t0002g0036a0001c0007t0002g0132others(9): Show | 18 | 386 | 0.0466 | 0 | c.110 others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM8_chr10_133257423_133281868 | 133274037 | A | G | splice_region_variant others(1): Show |
LOW | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 386 | 0.0026 | 0 | c.228 others(5): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39054572 | G | A | missense_variant others(1): Show |
MODERATE | NA18963.hp2 NA19064.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0301a0003c0004t0001g0302 | 2 | 332 | 0.0060 | 0 | c.139 others(4): Show |
p.Arg others(6): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 13/22 | 1485/4112 | 1394/2460 | 465/819 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24394146 | T | C | missense_variant others(1): Show |
MODERATE | HG01167.hp1 HG01169.hp2 HG02258.hp2 others(7): Show |
a0003a0004a0010 | a0003c0004a0004c0005a0004c0008others(1): Show | a0003c0004t0005a0004c0005t0002a0004c0008t0011others(1): Show | a0003c0004t0005g0016a0003c0004t0005g0166a0004c0005t0002g0055others(2): Show | 10 | 404 | 0.0248 | 0 | c.362 others(3): Show |
p.Met others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 4/14 | 582/2348 | 362/1413 | 121/470 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24398874 | A | C | missense_variant others(1): Show |
MODERATE | HG01433.hp2 | a0009 | a0009c0012 | a0009c0012t0003 | a0009c0012t0003g0001 | 1 | 404 | 0.0025 | 0 | c.763 others(3): Show |
p.Ile others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 9/14 | 983/2348 | 763/1413 | 255/470 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24398876 | A | T | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG01169.hp2 HG02451.hp1 others(5): Show |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0005a0004c0005t0002 | a0003c0004t0005g0016a0003c0004t0005g0166a0004c0005t0002g0055 | 8 | 404 | 0.0198 | 0 | c.765 others(3): Show |
p.Ile others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 9/14 | 985/2348 | 765/1413 | 255/470 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24404005 | G | A | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG01169.hp2 HG02451.hp1 others(5): Show |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0005a0004c0005t0002 | a0003c0004t0005g0016a0003c0004t0005g0166a0004c0005t0002g0055 | 8 | 404 | 0.0198 | 0 | c.132 others(4): Show |
p.Glu others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 13/14 | 1543/2348 | 1323/1413 | 441/470 | chr8 | TogoVar | ||
ADAMTS10_chr19_8575240_8615715 | 8585059 | G | A | splice_region_variant others(1): Show |
LOW | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277 | 1 | 384 | 0.0026 | 0 | c.304 others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 24/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8585059 | G | GAGGGGGC | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG00673.hp1 HG00733.hp1 others(52): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0045a0001c0002t0001g0003a0001c0002t0001g0051others(51): Show | 55 | 384 | 0.1432 | 7 | c.304 others(21): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 24/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8585668 | A | C | splice_region_variant others(1): Show |
LOW | HG03491.hp2 | a0001 | a0001c0019 | a0001c0019t0017 | a0001c0019t0017g0093 | 1 | 384 | 0.0026 | 0 | c.266 others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 22/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8586554 | T | C | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG01070.hp2 HG01071.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0009a0002c0005t0004 | a0001c0002t0009g0130a0002c0005t0004g0024a0002c0005t0004g0025 | 3 | 384 | 0.0078 | 0 | c.240 others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 20/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8592110 | G | C | splice_region_variant others(1): Show |
LOW | HG02258.hp2 HG02451.hp1 HG02572.hp1 others(6): Show |
a0001a0009 | a0001c0001a0001c0018a0009c0016 | a0001c0001t0002a0001c0018t0002a0009c0016t0002 | a0001c0001t0002g0013a0001c0001t0002g0176a0001c0001t0002g0183others(6): Show | 9 | 384 | 0.0234 | 0 | c.158 others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 13/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8603721 | G | A | splice_region_variant others(1): Show |
LOW | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 384 | 0.0026 | 0 | c.592 others(5): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 5/25 | chr19 | TogoVar |