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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAD2_chr16_84186157_84202166 | 84195626 | C | G | missense_variant | MODERATE | NA18999.hp2 NA19070.hp2 |
a0009 | a0009c0020 | a0009c0020t0003 | a0009c0020t0003g0006 | 2 | 470 | 0.0043 | 0 | c.981 others(3): Show |
p.Phe others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 6/10 | 1055/2018 | 981/1752 | 327/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84196205 | G | T | missense_variant | MODERATE | HG02809.hp1 | a0018 | a0018c0026 | a0018c0026t0001 | a0018c0026t0001g0003 | 1 | 470 | 0.0021 | 0 | c.136 others(4): Show |
p.Cys others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 8/10 | 1435/2018 | 1361/1752 | 454/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84196226 | G | A | missense_variant | MODERATE | HG00408.hp1 | a0013 | a0013c0030 | a0013c0030t0001 | a0013c0030t0001g0001 | 1 | 470 | 0.0021 | 0 | c.138 others(4): Show |
p.Arg others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 8/10 | 1456/2018 | 1382/1752 | 461/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84196246 | G | T | missense_variant | MODERATE | NA18939.hp2 | a0017 | a0017c0025 | a0017c0025t0001 | a0017c0025t0001g0003 | 1 | 470 | 0.0021 | 0 | c.140 others(4): Show |
p.Ala others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 8/10 | 1476/2018 | 1402/1752 | 468/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84196277 | C | T | missense_variant | MODERATE | HG02083.hp1 | a0014 | a0014c0031 | a0014c0031t0001 | a0014c0031t0001g0001 | 1 | 470 | 0.0021 | 0 | c.143 others(4): Show |
p.Thr others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 8/10 | 1507/2018 | 1433/1752 | 478/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84196709 | C | T | missense_variant | MODERATE | HG00423.hp1 HG03927.hp2 |
a0008 | a0008c0018 | a0008c0018t0003a0008c0018t0004 | a0008c0018t0003g0048a0008c0018t0004g0006 | 2 | 470 | 0.0043 | 0 | c.158 others(4): Show |
p.Ala others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 9/10 | 1663/2018 | 1589/1752 | 530/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84196741 | G | T | missense_variant | MODERATE | HG01358.hp2 HG01516.hp2 HG02258.hp2 others(2): Show |
a0005 | a0005c0010 | a0005c0010t0006 | a0005c0010t0006g0013 | 5 | 470 | 0.0106 | 0 | c.162 others(4): Show |
p.Ala others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 9/10 | 1695/2018 | 1621/1752 | 541/583 | chr16 | TogoVar | ||
ADAL_chr15_43325672_43359569 | 43348988 | G | A | missense_variant | MODERATE | HG02647.hp2 HG02717.hp1 |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0022a0003c0005t0004g0028 | 2 | 386 | 0.0052 | 0 | c.715 others(3): Show |
p.Gly others(6): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 11/13 | 1291/4268 | 715/1068 | 239/355 | chr15 | TogoVar | ||
ADAL_chr15_43325672_43359569 | 43351781 | C | A | missense_variant | MODERATE | HG01891.hp2 HG02145.hp2 HG02257.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0034a0002c0004t0004g0067a0002c0004t0004g0113 | 4 | 386 | 0.0104 | 0 | c.904 others(3): Show |
p.Leu others(6): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 13/13 | 1480/4268 | 904/1068 | 302/355 | chr15 | TogoVar | ||
ADAL_chr15_43325672_43359569 | 43351812 | C | T | missense_variant | MODERATE | NA19030.hp1 | a0004 | a0004c0007 | a0004c0007t0028 | a0004c0007t0028g0051 | 1 | 386 | 0.0026 | 0 | c.935 others(3): Show |
p.Thr others(6): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 13/13 | 1511/4268 | 935/1068 | 312/355 | chr15 | TogoVar | ||
ADAM10_chr15_58583809_58754707 | 58643951 | T | C | missense_variant | MODERATE | NA19000.hp1 NA19005.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0071 | a0002c0003t0001g0016a0002c0003t0071g0236 | 2 | 342 | 0.0059 | 0 | c.763 others(3): Show |
p.Thr others(6): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 7/16 | 936/11158 | 763/2247 | 255/748 | chr15 | TogoVar | ||
ADAM10_chr15_58583809_58754707 | 58665155 | T | C | missense_variant | MODERATE | HG02723.hp2 | a0003 | a0003c0004 | a0003c0004t0036 | a0003c0004t0036g0012 | 1 | 342 | 0.0029 | 0 | c.527 others(3): Show |
p.His others(6): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/16 | 700/11158 | 527/2247 | 176/748 | chr15 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44772292 | G | A | missense_variant | MODERATE | HG01952.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0199 | 1 | 336 | 0.0030 | 0 | c.569 others(3): Show |
p.Arg others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 7/27 | 781/4614 | 569/2310 | 190/769 | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44773288 | A | G | missense_variant | MODERATE | NA21309.hp2 | a0007 | a0007c0012 | a0007c0012t0003 | a0007c0012t0003g0126 | 1 | 336 | 0.0030 | 0 | c.853 others(3): Show |
p.Ile others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 11/27 | 1065/4614 | 853/2310 | 285/769 | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44774568 | A | T | missense_variant | MODERATE | HG00673.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0010 | 1 | 336 | 0.0030 | 0 | c.115 others(4): Show |
p.His others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 13/27 | 1366/4614 | 1154/2310 | 385/769 | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44774577 | C | T | missense_variant | MODERATE | HG02165.hp2 | a0003 | a0003c0008 | a0003c0008t0003 | a0003c0008t0003g0180 | 1 | 336 | 0.0030 | 0 | c.116 others(4): Show |
p.Ser others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 13/27 | 1375/4614 | 1163/2310 | 388/769 | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44777715 | C | T | missense_variant | MODERATE | NA19057.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0001 | 1 | 336 | 0.0030 | 0 | c.192 others(4): Show |
p.Ala others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 23/27 | 2134/4614 | 1922/2310 | 641/769 | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44777720 | G | A | missense_variant | MODERATE | HG02809.hp1 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0015 | 1 | 336 | 0.0030 | 0 | c.192 others(4): Show |
p.Gly others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 23/27 | 2139/4614 | 1927/2310 | 643/769 | chr17 | TogoVar | ||
ADAM12_chr10_126007391_126393477 | 126017287 | T | C | missense_variant | MODERATE | HG01106.hp2 HG01346.hp1 |
a0005 | a0005c0025 | a0005c0025t0002a0005c0025t0024 | a0005c0025t0002g0247a0005c0025t0024g0230 | 2 | 252 | 0.0079 | 0 | c.271 others(4): Show |
p.Ile others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 23/23 | 3045/7941 | 2713/2721 | 905/906 | chr10 | TogoVar | ||
ADAM12_chr10_126007391_126393477 | 126017332 | G | C | missense_variant | MODERATE | HG02572.hp1 | a0007 | a0007c0056 | a0007c0056t0028 | a0007c0056t0028g0002 | 1 | 252 | 0.0040 | 0 | c.266 others(4): Show |
p.Pro others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 23/23 | 3000/7941 | 2668/2721 | 890/906 | chr10 | TogoVar | ||
ADAM12_chr10_126007391_126393477 | 126046075 | T | C | missense_variant | MODERATE | HG02451.hp2 | a0013 | a0013c0041 | a0013c0041t0004 | a0013c0041t0004g0015 | 1 | 252 | 0.0040 | 0 | c.197 others(4): Show |
p.Met others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 17/23 | 2307/7941 | 1975/2721 | 659/906 | chr10 | TogoVar | ||
ADAM12_chr10_126007391_126393477 | 126049327 | T | C | missense_variant | MODERATE | HG02257.hp2 | a0012 | a0012c0039 | a0012c0039t0004 | a0012c0039t0004g0190 | 1 | 252 | 0.0040 | 0 | c.184 others(4): Show |
p.Thr others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 16/23 | 2175/7941 | 1843/2721 | 615/906 | chr10 | TogoVar | ||
ADAM12_chr10_126007391_126393477 | 126049389 | T | C | missense_variant | MODERATE | HG03017.hp2 HG03710.hp1 |
a0008a0011 | a0008c0057a0011c0030 | a0008c0057t0004a0011c0030t0001 | a0008c0057t0004g0248a0011c0030t0001g0130 | 2 | 252 | 0.0079 | 0 | c.178 others(4): Show |
p.Asn others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 16/23 | 2113/7941 | 1781/2721 | 594/906 | chr10 | TogoVar | ||
ADAM12_chr10_126007391_126393477 | 126049569 | G | C | missense_variant | MODERATE | HG01109.hp1 | a0014 | a0014c0040 | a0014c0040t0001 | a0014c0040t0001g0063 | 1 | 252 | 0.0040 | 0 | c.171 others(4): Show |
p.Cys others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 15/23 | 2042/7941 | 1710/2721 | 570/906 | chr10 | TogoVar | ||
ADAM12_chr10_126007391_126393477 | 126064928 | C | G | missense_variant | MODERATE | HG02258.hp2 HG03471.hp2 |
a0009a0015 | a0009c0051a0015c0035 | a0009c0051t0003a0015c0035t0003 | a0009c0051t0003g0142a0015c0035t0003g0171 | 2 | 252 | 0.0079 | 0 | c.148 others(4): Show |
p.Ser others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/23 | 1819/7941 | 1487/2721 | 496/906 | chr10 | TogoVar | ||
ADAM12_chr10_126007391_126393477 | 126118124 | G | A | missense_variant | MODERATE | HG02055.hp1 | a0016 | a0016c0043 | a0016c0043t0001 | a0016c0043t0001g0098 | 1 | 252 | 0.0040 | 0 | c.517 others(3): Show |
p.Arg others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/23 | 849/7941 | 517/2721 | 173/906 | chr10 | TogoVar | ||
ADAM12_chr10_126007391_126393477 | 126118141 | T | C | missense_variant | MODERATE | HG03130.hp2 HG03139.hp2 NA21309.hp1 |
a0006a0010 | a0006c0044a0006c0045a0010c0058 | a0006c0044t0042a0006c0045t0022a0010c0058t0014 | a0006c0044t0042g0175a0006c0045t0022g0170a0010c0058t0014g0010 | 3 | 252 | 0.0119 | 0 | c.500 others(3): Show |
p.Lys others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/23 | 832/7941 | 500/2721 | 167/906 | chr10 | TogoVar | ||
ADAM12_chr10_126007391_126393477 | 126278963 | C | T | missense_variant | MODERATE | HG00423.hp2 HG01928.hp2 HG02015.hp2 others(7): Show |
a0003a0004a0011 | a0003c0018a0003c0027a0003c0028others(5): Show | a0003c0018t0003a0003c0018t0016a0003c0027t0011others(7): Show | a0003c0018t0003g0126a0003c0018t0016g0094a0003c0027t0011g0179others(7): Show | 10 | 252 | 0.0397 | 0 | c.212 others(3): Show |
p.Arg others(5): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/23 | 544/7941 | 212/2721 | 71/906 | chr10 | TogoVar | ||
ADAM12_chr10_126007391_126393477 | 126330456 | C | G | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(134): Show |
a0001a0003a0006others(6): Show | a0001c0002a0001c0003a0001c0004others(30): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(72): Show | a0001c0002t0001g0042a0001c0002t0001g0044a0001c0002t0001g0065others(134): Show | 137 | 252 | 0.5437 | 0 | c.142 others(3): Show |
p.Gly others(5): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 2/23 | 474/7941 | 142/2721 | 48/906 | chr10 | TogoVar | ||
ADAM15_chr1_155046316_155067775 | 155053469 | A | T | missense_variant | MODERATE | HG02258.hp1 | a0011 | a0011c0020 | a0011c0020t0001 | a0011c0020t0001g0078 | 1 | 324 | 0.0031 | 0 | c.239 others(3): Show |
p.His others(5): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 3/23 | 310/2936 | 239/2592 | 80/863 | chr1 | TogoVar | ||
ADAM15_chr1_155046316_155067775 | 155054378 | G | C | missense_variant | MODERATE | NA18983.hp1 NA19000.hp1 |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0035 | 2 | 324 | 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(294): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(106): Show | 297 | 324 | 0.9167 | 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 | a0005c0008t0001g0001a0005c0008t0001g0004a0005c0008t0001g0052others(1): Show | 9 | 324 | 0.0278 | 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 | 324 | 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 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0001 | 1 | 324 | 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 | a0004c0006t0001g0009a0004c0006t0001g0016a0004c0006t0001g0065others(1): Show | 12 | 324 | 0.0370 | 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 | a0002c0003t0001g0002a0002c0003t0001g0011a0002c0003t0001g0013others(14): Show | 38 | 324 | 0.1173 | 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 | 324 | 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 | a0005 | a0005c0010 | a0005c0010t0038 | a0005c0010t0038g0053 | 1 | 234 | 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 | a0006 | a0006c0007 | a0006c0007t0024 | a0006c0007t0024g0008 | 1 | 234 | 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 | a0007 | a0007c0009 | a0007c0009t0068 | a0007c0009t0068g0143 | 1 | 234 | 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 |
a0002a0005 | a0002c0003a0005c0010 | a0002c0003t0026a0002c0003t0039a0002c0003t0040others(10): Show | a0002c0003t0026g0061a0002c0003t0026g0063a0002c0003t0039g0056others(11): Show | 14 | 234 | 0.0598 | 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 | a0004 | a0004c0011 | a0004c0011t0065 | a0004c0011t0065g0107 | 1 | 234 | 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 | 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 | 39610551 | A | C | missense_variant | MODERATE | HG02717.hp2 HG03579.hp1 NA19043.hp1 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0264a0006c0006t0001g0265a0006c0006t0001g0266 | 3 | 347 | 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 |
a0003a0008 | a0003c0004a0008c0024 | a0003c0004t0001a0003c0004t0002a0008c0024t0001 | a0003c0004t0001g0179a0003c0004t0001g0210a0003c0004t0001g0212others(8): Show | 11 | 347 | 0.0317 | 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 |
a0002a0009 | a0002c0003a0009c0023 | a0002c0003t0001a0009c0023t0001 | a0002c0003t0001g0011a0002c0003t0001g0015a0002c0003t0001g0016others(10): Show | 13 | 347 | 0.0375 | 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 | a0010c0013t0001g0161 | 1 | 347 | 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 | a0010c0013t0001g0161 | 1 | 347 | 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 | a0011 | a0011c0021 | a0011c0021t0001 | a0011c0021t0001g0224 | 1 | 347 | 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 |