view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM15_chr1_155046316_155067775 | 155054378 | G | C | missense_variant | MODERATE | NA18983.hp1 NA19000.hp1 |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0035 | 2 | 322 | 0.0062 | 0 | c.484 others(3): Show |
p.Gly others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 6/23 | 555/2936 | 484/2592 | 162/863 | chr1 | TogoVar | |||
ADAM15_chr1_155046316_155067775 | 155054466 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(293): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show |
296 | 322 | 0.9193 | 0 | c.572 others(3): Show |
p.Lys others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 6/23 | 643/2936 | 572/2592 | 191/863 | chr1 | TogoVar | |||
ADAM15_chr1_155046316_155067775 | 155055974 | C | A | missense_variant | MODERATE | HG00558.hp1 HG01070.hp2 HG01071.hp1 others(6): Show |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0001 a0005c0008t0001g0004 a0005c0008t0001g0052 others(1): Show |
9 | 322 | 0.0280 | 0 | c.718 others(3): Show |
p.Leu others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 8/23 | 789/2936 | 718/2592 | 240/863 | chr1 | TogoVar | |||
ADAM15_chr1_155046316_155067775 | 155056216 | C | T | missense_variant | MODERATE | HG01975.hp2 | a0008 | a0008c0019 | a0008c0019t0001 | a0008c0019t0001g0081 | 1 | 322 | 0.0031 | 0 | c.881 others(3): Show |
p.Pro others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 9/23 | 952/2936 | 881/2592 | 294/863 | chr1 | TogoVar | |||
ADAM15_chr1_155046316_155067775 | 155058768 | G | A | missense_variant | MODERATE | HG03710.hp2 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0001 | 1 | 322 | 0.0031 | 0 | c.197 others(4): Show |
p.Ser others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 16/23 | 2047/2936 | 1976/2592 | 659/863 | chr1 | TogoVar | |||
ADAM15_chr1_155046316_155067775 | 155060276 | A | G | missense_variant | MODERATE | HG02280.hp2 HG02451.hp2 HG02572.hp1 others(9): Show |
a0004a0010 | a0004c0006a0010c0017 | a0004c0006t0001a0010c0017t0001 | a0004c0006t0001g0009 a0004c0006t0001g0016 a0004c0006t0001g0065 others(1): Show |
12 | 322 | 0.0373 | 0 | c.214 others(4): Show |
p.Ser others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 18/23 | 2211/2936 | 2140/2592 | 714/863 | chr1 | TogoVar | |||
ADAM15_chr1_155046316_155067775 | 155061442 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(35): Show |
a0002a0007 | a0002c0003a0002c0009a0007c0014 | a0002c0003t0001a0002c0009t0001a0007c0014t0001 | a0002c0003t0001g0002 a0002c0003t0001g0011 a0002c0003t0001g0013 others(14): Show |
38 | 322 | 0.1180 | 0 | c.230 others(4): Show |
p.Pro others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 20/23 | 2376/2936 | 2305/2592 | 769/863 | chr1 | TogoVar | |||
ADAM15_chr1_155046316_155067775 | 155061472 | G | A | missense_variant | MODERATE | HG03579.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0068 | 1 | 322 | 0.0031 | 0 | c.233 others(4): Show |
p.Val others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 20/23 | 2406/2936 | 2335/2592 | 779/863 | chr1 | TogoVar | |||
ADAM17_chr2_9483486_9560830 | 9490409 | G | A | missense_variant | MODERATE | NA19240.hp2 | a0007 | a0007c0010 | a0007c0010t0037 | a0007c0010t0037g0053 | 1 | 232 | 0.0043 | 0 | c.224 others(4): Show |
p.Ala others(6): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 19/19 | 2468/4391 | 2243/2475 | 748/824 | chr2 | TogoVar | |||
ADAM17_chr2_9483486_9560830 | 9490412 | G | A | missense_variant | MODERATE | HG02523.hp2 | a0005 | a0005c0007 | a0005c0007t0023 | a0005c0007t0023g0008 | 1 | 232 | 0.0043 | 0 | c.224 others(4): Show |
p.Ser others(6): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 19/19 | 2465/4391 | 2240/2475 | 747/824 | chr2 | TogoVar | |||
ADAM17_chr2_9483486_9560830 | 9505338 | T | C | missense_variant | MODERATE | HG01070.hp2 | a0004 | a0004c0009 | a0004c0009t0064 | a0004c0009t0064g0143 | 1 | 232 | 0.0043 | 0 | c.137 others(4): Show |
p.Ile others(6): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 12/19 | 1597/4391 | 1372/2475 | 458/824 | chr2 | TogoVar | |||
ADAM17_chr2_9483486_9560830 | 9527801 | T | C | missense_variant | MODERATE | HG00738.hp2 HG01109.hp2 HG01175.hp2 others(11): Show |
a0002a0007 | a0002c0003a0007c0010 | a0002c0003t0025a0002c0003t0038a0002c0003t0039others(10): Show | a0002c0003t0025g0061 a0002c0003t0025g0063 a0002c0003t0038g0056 others(11): Show |
14 | 232 | 0.0603 | 0 | c.604 others(3): Show |
p.Arg others(6): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 5/19 | 829/4391 | 604/2475 | 202/824 | chr2 | TogoVar | |||
ADAM17_chr2_9483486_9560830 | 9527921 | T | C | missense_variant | MODERATE | HG06807.hp1 | a0006 | a0006c0011 | a0006c0011t0061 | a0006c0011t0061g0107 | 1 | 232 | 0.0043 | 0 | c.484 others(3): Show |
p.Lys others(6): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 5/19 | 709/4391 | 484/2475 | 162/824 | chr2 | TogoVar | |||
ADAM17_chr2_9483486_9560830 | 9536827 | G | C | missense_variant others(1): Show |
MODERATE | HG02965.hp1 NA20300.hp1 |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0016 | a0003c0004t0005g0159 a0003c0004t0016g0160 |
2 | 232 | 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 | 39610551 | A | C | missense_variant | MODERATE | HG02717.hp2 HG03579.hp1 NA19043.hp1 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0262 a0006c0006t0001g0263 a0006c0006t0001g0264 |
3 | 346 | 0.0087 | 0 | c.367 others(3): Show |
p.Ile others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 6/20 | 422/2400 | 367/2220 | 123/739 | chr8 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39610609 | A | T | missense_variant | MODERATE | HG02257.hp2 HG02622.hp1 HG02723.hp2 others(8): Show |
a0003a0011 | a0003c0004a0011c0024 | a0003c0004t0001a0003c0004t0002a0011c0024t0001 | a0003c0004t0001g0181 a0003c0004t0001g0212 a0003c0004t0001g0214 others(8): Show |
11 | 346 | 0.0318 | 0 | c.425 others(3): Show |
p.Gln others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 6/20 | 480/2400 | 425/2220 | 142/739 | chr8 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39637309 | G | T | missense_variant | MODERATE | HG00733.hp1 HG01167.hp2 HG02074.hp1 others(10): Show |
a0002a0008 | a0002c0003a0008c0023 | a0002c0003t0001a0008c0023t0001 | a0002c0003t0001g0013 a0002c0003t0001g0017 a0002c0003t0001g0018 others(10): Show |
13 | 346 | 0.0376 | 0 | c.634 others(3): Show |
p.Val others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 8/20 | 689/2400 | 634/2220 | 212/739 | chr8 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39648379 | G | A | missense_variant | MODERATE | HG01884.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0162 | 1 | 346 | 0.0029 | 0 | c.108 others(4): Show |
p.Ser others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 12/20 | 1137/2400 | 1082/2220 | 361/739 | chr8 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39648410 | A | T | missense_variant | MODERATE | HG01884.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0162 | 1 | 346 | 0.0029 | 0 | c.111 others(4): Show |
p.Lys others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 12/20 | 1168/2400 | 1113/2220 | 371/739 | chr8 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39668113 | G | A | missense_variant | MODERATE | HG01192.hp2 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0226 | 1 | 346 | 0.0029 | 0 | c.144 others(4): Show |
p.Arg others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 14/20 | 1497/2400 | 1442/2220 | 481/739 | chr8 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39668137 | A | G | missense_variant | MODERATE | NA18961.hp1 | a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0069 | 1 | 346 | 0.0029 | 0 | c.146 others(4): Show |
p.Tyr others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 14/20 | 1521/2400 | 1466/2220 | 489/739 | chr8 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39680074 | C | T | missense_variant | MODERATE | HG04199.hp1 | a0012 | a0012c0018 | a0012c0018t0001 | a0012c0018t0001g0040 | 1 | 346 | 0.0029 | 0 | c.166 others(4): Show |
p.His others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 16/20 | 1724/2400 | 1669/2220 | 557/739 | chr8 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39692661 | C | T | missense_variant | MODERATE | NA19074.hp1 NA19077.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0111 a0007c0009t0001g0155 |
2 | 346 | 0.0058 | 0 | c.188 others(4): Show |
p.Thr others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 17/20 | 1938/2400 | 1883/2220 | 628/739 | chr8 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39706848 | A | G | missense_variant | MODERATE | HG00733.hp1 HG01167.hp2 HG02074.hp1 others(11): Show |
a0002a0008a0014 | a0002c0003a0008c0023a0014c0017 | a0002c0003t0001a0008c0023t0001a0014c0017t0001 | a0002c0003t0001g0013 a0002c0003t0001g0017 a0002c0003t0001g0018 others(11): Show |
14 | 346 | 0.0405 | 0 | c.196 others(4): Show |
p.Lys others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 18/20 | 2016/2400 | 1961/2220 | 654/739 | chr8 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39723859 | G | T | missense_variant | MODERATE | HG02630.hp1 HG03209.hp2 NA18906.hp1 |
a0005 | a0005c0011a0005c0016 | a0005c0011t0001a0005c0016t0001 | a0005c0011t0001g0190 a0005c0011t0001g0247 a0005c0016t0001g0079 |
3 | 346 | 0.0087 | 0 | c.212 others(4): Show |
p.Arg others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 19/20 | 2184/2400 | 2129/2220 | 710/739 | chr8 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39723876 | T | A | missense_variant | MODERATE | HG01167.hp2 HG02055.hp1 HG02280.hp2 others(6): Show |
a0004a0008a0011 | a0004c0005a0004c0019a0004c0022others(2): Show | a0004c0005t0001a0004c0019t0001a0004c0022t0001others(2): Show | a0004c0005t0001g0288 a0004c0005t0001g0292 a0004c0005t0001g0307 others(6): Show |
9 | 346 | 0.0260 | 0 | c.214 others(4): Show |
p.Ser others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 19/20 | 2201/2400 | 2146/2220 | 716/739 | chr8 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39723898 | A | G | missense_variant | MODERATE | HG01167.hp2 HG02055.hp1 HG02280.hp2 others(6): Show |
a0004a0008a0011 | a0004c0005a0004c0019a0004c0022others(2): Show | a0004c0005t0001a0004c0019t0001a0004c0022t0001others(2): Show | a0004c0005t0001g0288 a0004c0005t0001g0292 a0004c0005t0001g0307 others(6): Show |
9 | 346 | 0.0260 | 0 | c.216 others(4): Show |
p.Glu others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 19/20 | 2223/2400 | 2168/2220 | 723/739 | chr8 | TogoVar | |||
ADAM19_chr5_157472304_157580775 | 157488402 | C | T | missense_variant | MODERATE | HG01884.hp1 HG02055.hp1 HG02818.hp2 others(6): Show |
a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0001 a0005c0005t0008g0246 a0005c0005t0008g0273 others(4): Show |
9 | 308 | 0.0292 | 0 | c.241 others(4): Show |
p.Ala others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 21/23 | 2492/6481 | 2413/2757 | 805/918 | chr5 | TogoVar | |||
ADAM19_chr5_157472304_157580775 | 157490332 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(40): Show |
a0003a0004a0007others(3): Show | a0003c0003a0004c0004a0004c0013others(4): Show | a0003c0003t0004a0003c0003t0007a0003c0003t0011others(16): Show | a0003c0003t0004g0222 a0003c0003t0004g0290 a0003c0003t0007g0221 others(40): Show |
43 | 308 | 0.1396 | 0 | c.221 others(4): Show |
p.Ser others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 19/23 | 2297/6481 | 2218/2757 | 740/918 | chr5 | TogoVar | |||
ADAM19_chr5_157472304_157580775 | 157491842 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(19): Show |
a0003a0008a0016 | a0003c0003a0008c0008a0016c0017 | a0003c0003t0004a0003c0003t0007a0003c0003t0011others(6): Show | a0003c0003t0004g0222 a0003c0003t0004g0290 a0003c0003t0007g0221 others(19): Show |
22 | 308 | 0.0714 | 0 | c.197 others(4): Show |
p.Gly others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 17/23 | 2058/6481 | 1979/2757 | 660/918 | chr5 | TogoVar | |||
ADAM19_chr5_157472304_157580775 | 157496966 | C | T | missense_variant | MODERATE | HG00099.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0094 | 1 | 308 | 0.0032 | 0 | c.152 others(4): Show |
p.Gly others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 14/23 | 1601/6481 | 1522/2757 | 508/918 | chr5 | TogoVar | |||
ADAM19_chr5_157472304_157580775 | 157499598 | T | C | missense_variant | MODERATE | HG01243.hp1 HG02486.hp2 |
a0011 | a0011c0015 | a0011c0015t0024 | a0011c0015t0024g0271 a0011c0015t0024g0272 |
2 | 308 | 0.0065 | 0 | c.137 others(4): Show |
p.His others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 13/23 | 1452/6481 | 1373/2757 | 458/918 | chr5 | TogoVar | |||
ADAM19_chr5_157472304_157580775 | 157502808 | C | T | missense_variant | MODERATE | HG01361.hp1 HG01433.hp2 |
a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0089 a0012c0012t0002g0090 |
2 | 308 | 0.0065 | 0 | c.130 others(4): Show |
p.Glu others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 12/23 | 1382/6481 | 1303/2757 | 435/918 | chr5 | TogoVar | |||
ADAM19_chr5_157472304_157580775 | 157509356 | T | C | missense_variant | MODERATE | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(137): Show |
a0002a0004a0005others(6): Show | a0002c0002a0002c0014a0004c0004others(8): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(35): Show | a0002c0002t0001g0086 a0002c0002t0002g0047 a0002c0002t0002g0055 others(133): Show |
140 | 308 | 0.4545 | 0 | c.850 others(3): Show |
p.Ser others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 9/23 | 929/6481 | 850/2757 | 284/918 | chr5 | TogoVar | |||
ADAM19_chr5_157472304_157580775 | 157537936 | G | C | missense_variant | MODERATE | HG02257.hp1 HG02572.hp1 HG02647.hp1 others(7): Show |
a0008a0009a0017others(1): Show | a0008c0008a0009c0009a0017c0021others(1): Show | a0008c0008t0004a0009c0009t0002a0017c0021t0002others(1): Show | a0008c0008t0004g0225 a0008c0008t0004g0226 a0008c0008t0004g0227 others(6): Show |
10 | 308 | 0.0325 | 0 | c.307 others(3): Show |
p.Gln others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 4/23 | 386/6481 | 307/2757 | 103/918 | chr5 | TogoVar | |||
ADAM19_chr5_157472304_157580775 | 157575620 | C | A | missense_variant | MODERATE | HG02258.hp1 HG03540.hp2 |
a0014 | a0014c0016 | a0014c0016t0003a0014c0016t0007 | a0014c0016t0003g0301 a0014c0016t0007g0300 |
2 | 308 | 0.0065 | 0 | c.77G others(2): Show |
p.Arg others(5): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 1/23 | 156/6481 | 77/2757 | 26/918 | chr5 | TogoVar | |||
ADAM19_chr5_157472304_157580775 | 157575687 | C | T | missense_variant | MODERATE | HG00280.hp1 HG00639.hp2 HG00738.hp1 others(13): Show |
a0006a0007a0010others(2): Show | a0006c0006a0007c0007a0010c0010others(2): Show | a0006c0006t0001a0006c0006t0013a0006c0006t0023others(8): Show | a0006c0006t0001g0010 a0006c0006t0013g0012 a0006c0006t0013g0013 others(13): Show |
16 | 308 | 0.0519 | 0 | c.10G others(2): Show |
p.Gly others(4): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 1/23 | 89/6481 | 10/2757 | 4/918 | chr5 | TogoVar | |||
ADAM20_chr14_70517358_70540004 | 70522609 | G | A | missense_variant | MODERATE | NA18948.hp1 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0049 | 1 | 398 | 0.0025 | 0 | c.214 others(4): Show |
p.Arg others(6): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | 2533/2784 | 2149/2181 | 717/726 | chr14 | TogoVar | |||
ADAM20_chr14_70517358_70540004 | 70523134 | C | T | missense_variant | MODERATE | NA18942.hp2 NA18975.hp2 NA18981.hp1 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002 | a0003c0004t0001g0019 a0003c0004t0001g0031 a0003c0004t0002g0041 |
6 | 398 | 0.0151 | 0 | c.162 others(4): Show |
p.Gly others(6): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | 2008/2784 | 1624/2181 | 542/726 | chr14 | TogoVar | |||
ADAM20_chr14_70517358_70540004 | 70523230 | T | C | missense_variant | MODERATE | HG01884.hp1 HG02145.hp2 HG02258.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 others(2): Show |
8 | 398 | 0.0201 | 0 | c.152 others(4): Show |
p.Asn others(6): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | 1912/2784 | 1528/2181 | 510/726 | chr14 | TogoVar | |||
ADAM20_chr14_70517358_70540004 | 70523238 | G | C | missense_variant | MODERATE | HG00642.hp1 HG00735.hp2 HG01099.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0020 | 3 | 398 | 0.0075 | 0 | c.152 others(4): Show |
p.Thr others(6): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | 1904/2784 | 1520/2181 | 507/726 | chr14 | TogoVar | |||
ADAM20_chr14_70517358_70540004 | 70523882 | T | G | missense_variant | MODERATE | HG02896.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0051 | 1 | 398 | 0.0025 | 0 | c.876 others(3): Show |
p.Gln others(6): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | 1260/2784 | 876/2181 | 292/726 | chr14 | TogoVar | |||
ADAM21_chr14_70447174_70464905 | 70457569 | T | C | missense_variant | MODERATE | HG01891.hp2 HG02280.hp1 HG02451.hp2 others(4): Show |
a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0008 | 7 | 424 | 0.0165 | 0 | c.70T others(2): Show |
p.Ser others(5): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 311/2647 | 70/2169 | 24/722 | chr14 | TogoVar | |||
ADAM21_chr14_70447174_70464905 | 70457696 | G | A | missense_variant | MODERATE | HG02896.hp1 | a0015 | a0015c0025 | a0015c0025t0003 | a0015c0025t0003g0050 | 1 | 424 | 0.0024 | 0 | c.197 others(3): Show |
p.Arg others(5): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 438/2647 | 197/2169 | 66/722 | chr14 | TogoVar | |||
ADAM21_chr14_70447174_70464905 | 70457724 | T | A | missense_variant | MODERATE | NA18999.hp1 | a0018 | a0018c0019 | a0018c0019t0001 | a0018c0019t0001g0004 | 1 | 424 | 0.0024 | 0 | c.225 others(3): Show |
p.His others(5): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 466/2647 | 225/2169 | 75/722 | chr14 | TogoVar | |||
ADAM21_chr14_70447174_70464905 | 70457784 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(399): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0003a0001c0005others(29): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0003others(31): Show | a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0009 others(60): Show |
402 | 424 | 0.9481 | 0 | c.285 others(3): Show |
p.Asp others(5): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 526/2647 | 285/2169 | 95/722 | chr14 | TogoVar | |||
ADAM21_chr14_70447174_70464905 | 70457836 | G | A | missense_variant | MODERATE | NA18955.hp1 NA19057.hp1 |
a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0003 | 2 | 424 | 0.0047 | 0 | c.337 others(3): Show |
p.Gly others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 578/2647 | 337/2169 | 113/722 | chr14 | TogoVar | |||
ADAM21_chr14_70447174_70464905 | 70457849 | C | G | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(183): Show |
a0002a0003a0004others(11): Show | a0002c0001a0002c0015a0002c0018others(19): Show | a0002c0001t0002a0002c0015t0002a0002c0018t0002others(19): Show | a0002c0001t0002g0002 a0002c0001t0002g0006 a0002c0001t0002g0007 others(30): Show |
186 | 424 | 0.4387 | 0 | c.350 others(3): Show |
p.Ala others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 591/2647 | 350/2169 | 117/722 | chr14 | TogoVar | |||
ADAM21_chr14_70447174_70464905 | 70457885 | T | G | missense_variant | MODERATE | HG01069.hp2 HG02976.hp1 NA18522.hp2 |
a0009a0017 | a0009c0017a0017c0020 | a0009c0017t0006a0017c0020t0003 | a0009c0017t0006g0024 a0017c0020t0003g0047 |
3 | 424 | 0.0071 | 0 | c.386 others(3): Show |
p.Phe others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 627/2647 | 386/2169 | 129/722 | chr14 | TogoVar | |||
ADAM21_chr14_70447174_70464905 | 70457980 | A | G | missense_variant | MODERATE | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(131): Show |
a0002a0006a0007others(7): Show | a0002c0001a0002c0015a0002c0018others(11): Show | a0002c0001t0002a0002c0015t0002a0002c0018t0002others(11): Show | a0002c0001t0002g0002 a0002c0001t0002g0006 a0002c0001t0002g0007 others(21): Show |
134 | 424 | 0.3160 | 0 | c.481 others(3): Show |
p.Ile others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 722/2647 | 481/2169 | 161/722 | chr14 | TogoVar |