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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS16_chr5_5135330_5325304 | 5182173 | C | T | missense_variant | MODERATE | HG00140.hp1 HG01109.hp1 HG02129.hp1 others(10): Show |
a0010a0013a0030others(2): Show | a0010c0021a0010c0028a0013c0026others(4): Show | a0010c0021t0001a0010c0021t0002a0010c0021t0004others(8): Show | a0010c0021t0001g0152 a0010c0021t0001g0159 a0010c0021t0002g0151 others(10): Show |
13 | 330 | 0.0394 | 0 | c.631 others(3): Show |
p.Pro others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 4/23 | 769/4979 | 631/3675 | 211/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5182296 | C | T | missense_variant | MODERATE | HG01952.hp1 | a0021 | a0021c0066 | a0021c0066t0002 | a0021c0066t0002g0264 | 1 | 330 | 0.0030 | 0 | c.754 others(3): Show |
p.Arg others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 4/23 | 892/4979 | 754/3675 | 252/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5200260 | A | G | missense_variant | MODERATE | HG00558.hp2 | a0017 | a0017c0061 | a0017c0061t0007 | a0017c0061t0007g0037 | 1 | 330 | 0.0030 | 0 | c.144 others(4): Show |
p.Lys others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 9/23 | 1580/4979 | 1442/3675 | 481/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5209097 | G | A | missense_variant | MODERATE | HG00597.hp1 HG00621.hp1 HG00673.hp2 others(24): Show |
a0005a0012a0014others(2): Show | a0005c0003a0005c0062a0012c0014others(3): Show | a0005c0003t0001a0005c0003t0002a0005c0003t0003others(12): Show | a0005c0003t0001g0005 a0005c0003t0001g0017 a0005c0003t0001g0051 others(24): Show |
27 | 330 | 0.0818 | 0 | c.145 others(4): Show |
p.Ala others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 10/23 | 1594/4979 | 1456/3675 | 486/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5235051 | C | T | missense_variant | MODERATE | NA19003.hp1 | a0035 | a0035c0070 | a0035c0070t0001 | a0035c0070t0001g0258 | 1 | 330 | 0.0030 | 0 | c.188 others(4): Show |
p.Arg others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 13/23 | 2026/4979 | 1888/3675 | 630/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5235127 | A | G | missense_variant | MODERATE | HG00558.hp2 HG00673.hp1 NA19011.hp2 |
a0017a0018a0036 | a0017c0061a0018c0045a0036c0060 | a0017c0061t0007a0018c0045t0010a0036c0060t0002 | a0017c0061t0007g0037 a0018c0045t0010g0110 a0036c0060t0002g0020 |
3 | 330 | 0.0091 | 0 | c.196 others(4): Show |
p.His others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 13/23 | 2102/4979 | 1964/3675 | 655/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5235139 | G | A | missense_variant | MODERATE | HG01243.hp1 HG02109.hp2 |
a0019a0023 | a0019c0079a0023c0040 | a0019c0079t0029a0023c0040t0014 | a0019c0079t0029g0208 a0023c0040t0014g0191 |
2 | 330 | 0.0061 | 0 | c.197 others(4): Show |
p.Arg others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 13/23 | 2114/4979 | 1976/3675 | 659/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5239196 | G | A | missense_variant | MODERATE | HG01346.hp1 | a0020 | a0020c0054 | a0020c0054t0005 | a0020c0054t0005g0066 | 1 | 330 | 0.0030 | 0 | c.220 others(4): Show |
p.Val others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 15/23 | 2338/4979 | 2200/3675 | 734/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5239749 | A | G | missense_variant | MODERATE | HG02080.hp2 NA18973.hp2 NA18991.hp2 others(2): Show |
a0022a0030a0033others(2): Show | a0022c0047a0030c0065a0033c0049others(2): Show | a0022c0047t0001a0030c0065t0001a0033c0049t0001others(2): Show | a0022c0047t0001g0145 a0030c0065t0001g0025 a0033c0049t0001g0153 others(2): Show |
5 | 330 | 0.0152 | 0 | c.234 others(4): Show |
p.Thr others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 16/23 | 2485/4979 | 2347/3675 | 783/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5239771 | A | G | missense_variant | MODERATE | NA18963.hp1 | a0029 | a0029c0058 | a0029c0058t0002 | a0029c0058t0002g0327 | 1 | 330 | 0.0030 | 0 | c.236 others(4): Show |
p.Asn others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 16/23 | 2507/4979 | 2369/3675 | 790/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5242105 | G | T | missense_variant | MODERATE | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(37): Show |
a0006a0008a0009others(4): Show | a0006c0008a0006c0029a0008c0011others(10): Show | a0006c0008t0001a0006c0008t0003a0006c0008t0004others(25): Show | a0006c0008t0001g0008 a0006c0008t0001g0041 a0006c0008t0001g0078 others(37): Show |
40 | 330 | 0.1212 | 0 | c.257 others(4): Show |
p.Arg others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 17/23 | 2714/4979 | 2576/3675 | 859/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5262723 | A | G | missense_variant | MODERATE | HG03195.hp2 | a0026 | a0026c0041 | a0026c0041t0037 | a0026c0041t0037g0192 | 1 | 330 | 0.0030 | 0 | c.272 others(4): Show |
p.Asn others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 18/23 | 2867/4979 | 2729/3675 | 910/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5303303 | C | A | missense_variant | MODERATE | HG03540.hp1 NA19240.hp2 |
a0016 | a0016c0053a0016c0056 | a0016c0053t0002a0016c0056t0001 | a0016c0053t0002g0326 a0016c0056t0001g0062 |
2 | 330 | 0.0061 | 0 | c.282 others(4): Show |
p.Thr others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 19/23 | 2963/4979 | 2825/3675 | 942/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5303311 | G | A | missense_variant | MODERATE | HG02738.hp1 | a0024 | a0024c0075 | a0024c0075t0001 | a0024c0075t0001g0301 | 1 | 330 | 0.0030 | 0 | c.283 others(4): Show |
p.Gly others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 19/23 | 2971/4979 | 2833/3675 | 945/1224 | chr5 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5318222 | A | C | missense_variant | MODERATE | HG02886.hp2 HG03225.hp2 HG03540.hp2 |
a0025a0027a0028 | a0025c0073a0027c0043a0028c0081 | a0025c0073t0024a0027c0043t0023a0028c0081t0011 | a0025c0073t0024g0229 a0027c0043t0023g0141 a0028c0081t0011g0203 |
3 | 330 | 0.0091 | 0 | c.350 others(4): Show |
p.Gln others(7): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 22/23 | 3638/4979 | 3500/3675 | 1167/1224 | chr5 | TogoVar | |||
ADAMTS17_chr15_99966437_100346975 | 99974409 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(146): Show |
a0001a0002a0005others(3): Show | a0001c0002a0001c0005a0001c0007others(50): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(122): Show | a0001c0002t0002g0063 a0001c0002t0002g0169 a0001c0002t0004g0148 others(146): Show |
149 | 226 | 0.6593 | 0 | c.328 others(4): Show |
p.Asn others(7): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 22/22 | 3357/6329 | 3281/3288 | 1094/1095 | chr15 | TogoVar | |||
ADAMTS17_chr15_99966437_100346975 | 100048930 | C | T | missense_variant | MODERATE | HG02071.hp1 | a0011 | a0011c0062 | a0011c0062t0068 | a0011c0062t0068g0055 | 1 | 226 | 0.0044 | 0 | c.251 others(4): Show |
p.Asp others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/22 | 2594/6329 | 2518/3288 | 840/1095 | chr15 | TogoVar | |||
ADAMTS17_chr15_99966437_100346975 | 100132077 | C | T | missense_variant | MODERATE | HG02559.hp1 | a0012 | a0012c0052 | a0012c0052t0001 | a0012c0052t0001g0177 | 1 | 226 | 0.0044 | 0 | c.165 others(4): Show |
p.Ala others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 12/22 | 1727/6329 | 1651/3288 | 551/1095 | chr15 | TogoVar | |||
ADAMTS17_chr15_99966437_100346975 | 100152639 | C | T | missense_variant | MODERATE | NA19030.hp1 | a0006 | a0006c0058 | a0006c0058t0014 | a0006c0058t0014g0016 | 1 | 226 | 0.0044 | 0 | c.144 others(4): Show |
p.Met others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 10/22 | 1522/6329 | 1446/3288 | 482/1095 | chr15 | TogoVar | |||
ADAMTS17_chr15_99966437_100346975 | 100152640 | A | G | missense_variant | MODERATE | HG00140.hp1 HG01257.hp2 HG01258.hp2 others(25): Show |
a0005a0006a0007others(2): Show | a0005c0020a0005c0024a0005c0026others(15): Show | a0005c0020t0004a0005c0020t0017a0005c0024t0002others(21): Show | a0005c0020t0004g0220 a0005c0020t0004g0221 a0005c0020t0017g0198 others(25): Show |
28 | 226 | 0.1239 | 0 | c.144 others(4): Show |
p.Met others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 10/22 | 1521/6329 | 1445/3288 | 482/1095 | chr15 | TogoVar | |||
ADAMTS17_chr15_99966437_100346975 | 100152748 | G | A | missense_variant | MODERATE | HG00099.hp2 HG00280.hp2 NA20805.hp2 |
a0008a0009 | a0008c0057a0009c0027 | a0008c0057t0004a0009c0027t0001 | a0008c0057t0004g0149 a0009c0027t0001g0196 a0009c0027t0001g0216 |
3 | 226 | 0.0133 | 0 | c.133 others(4): Show |
p.Thr others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 10/22 | 1413/6329 | 1337/3288 | 446/1095 | chr15 | TogoVar | |||
ADAMTS17_chr15_99966437_100346975 | 100261518 | T | A | missense_variant | MODERATE | HG03704.hp1 | a0013 | a0013c0043 | a0013c0043t0003 | a0013c0043t0003g0023 | 1 | 226 | 0.0044 | 0 | c.992 others(3): Show |
p.Asp others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 6/22 | 1068/6329 | 992/3288 | 331/1095 | chr15 | TogoVar | |||
ADAMTS17_chr15_99966437_100346975 | 100281371 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(104): Show |
a0002a0004a0006others(4): Show | a0002c0001a0002c0004a0002c0011others(35): Show | a0002c0001t0002a0002c0001t0004a0002c0001t0005others(75): Show | a0002c0001t0002g0058 a0002c0001t0002g0059 a0002c0001t0002g0144 others(104): Show |
107 | 226 | 0.4735 | 0 | c.647 others(3): Show |
p.Ser others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/22 | 723/6329 | 647/3288 | 216/1095 | chr15 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77289338 | C | G | missense_variant | MODERATE | HG00408.hp1 HG00438.hp1 HG00621.hp2 others(64): Show |
a0003a0010a0012others(8): Show | a0003c0002a0010c0013a0010c0019others(11): Show | a0003c0002t0003a0003c0002t0006a0003c0002t0007others(25): Show | a0003c0002t0003g0167 a0003c0002t0006g0013 a0003c0002t0006g0015 others(64): Show |
67 | 324 | 0.2068 | 0 | c.347 others(4): Show |
p.Ser others(7): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 22/23 | 3815/5833 | 3476/3666 | 1159/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77291360 | T | G | missense_variant | MODERATE | NA18946.hp2 | a0036 | a0036c0037 | a0036c0037t0028 | a0036c0037t0028g0144 | 1 | 324 | 0.0031 | 0 | c.330 others(4): Show |
p.Asn others(7): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 21/23 | 3647/5833 | 3308/3666 | 1103/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77291406 | G | T | missense_variant | MODERATE | HG02809.hp2 | a0033 | a0033c0053 | a0033c0053t0019 | a0033c0053t0019g0068 | 1 | 324 | 0.0031 | 0 | c.326 others(4): Show |
p.Leu others(7): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 21/23 | 3601/5833 | 3262/3666 | 1088/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77291428 | G | T | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(51): Show |
a0005a0009a0014others(6): Show | a0005c0004a0005c0022a0005c0052others(8): Show | a0005c0004t0001a0005c0004t0015a0005c0004t0053others(14): Show | a0005c0004t0001g0027 a0005c0004t0001g0156 a0005c0004t0001g0161 others(51): Show |
54 | 324 | 0.1667 | 0 | c.324 others(4): Show |
p.Ser others(7): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 21/23 | 3579/5833 | 3240/3666 | 1080/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77293093 | C | T | missense_variant | MODERATE | HG02895.hp1 HG02897.hp2 |
a0023 | a0023c0032 | a0023c0032t0018 | a0023c0032t0018g0175 a0023c0032t0018g0176 |
2 | 324 | 0.0062 | 0 | c.317 others(4): Show |
p.Ala others(7): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 20/23 | 3511/5833 | 3172/3666 | 1058/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77294975 | G | C | missense_variant | MODERATE | HG01243.hp1 NA20752.hp1 |
a0028a0041 | a0028c0054a0041c0038 | a0028c0054t0007a0041c0038t0007 | a0028c0054t0007g0257 a0041c0038t0007g0188 |
2 | 324 | 0.0062 | 0 | c.295 others(4): Show |
p.Ala others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 19/23 | 3293/5833 | 2954/3666 | 985/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77295021 | C | T | missense_variant | MODERATE | NA18994.hp2 | a0038 | a0038c0039 | a0038c0039t0004 | a0038c0039t0004g0262 | 1 | 324 | 0.0031 | 0 | c.290 others(4): Show |
p.Val others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 19/23 | 3247/5833 | 2908/3666 | 970/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77295093 | C | A | missense_variant | MODERATE | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(38): Show |
a0006a0008a0017others(4): Show | a0006c0005a0006c0061a0008c0008others(7): Show | a0006c0005t0004a0006c0005t0012a0006c0005t0036others(10): Show | a0006c0005t0004g0032 a0006c0005t0004g0036 a0006c0005t0004g0076 others(38): Show |
41 | 324 | 0.1265 | 0 | c.283 others(4): Show |
p.Ala others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 19/23 | 3175/5833 | 2836/3666 | 946/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77300296 | C | T | missense_variant | MODERATE | NA20129.hp1 | a0040 | a0040c0049 | a0040c0049t0003 | a0040c0049t0003g0030 | 1 | 324 | 0.0031 | 0 | c.264 others(4): Show |
p.Val others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 17/23 | 2980/5833 | 2641/3666 | 881/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77300396 | C | A | missense_variant | MODERATE | HG02647.hp1 HG02818.hp1 HG03453.hp2 others(1): Show |
a0021a0022 | a0021c0030a0022c0026 | a0021c0030t0002a0021c0030t0048a0022c0026t0002 | a0021c0030t0002g0315 a0021c0030t0048g0316 a0022c0026t0002g0053 others(1): Show |
4 | 324 | 0.0123 | 0 | c.254 others(4): Show |
p.Met others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 17/23 | 2880/5833 | 2541/3666 | 847/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77319893 | G | A | missense_variant | MODERATE | HG01106.hp2 | a0027 | a0027c0051 | a0027c0051t0007 | a0027c0051t0007g0185 | 1 | 324 | 0.0031 | 0 | c.248 others(4): Show |
p.Arg others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/23 | 2827/5833 | 2488/3666 | 830/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77319905 | T | G | missense_variant | MODERATE | HG01256.hp1 HG01258.hp2 HG02738.hp2 |
a0019a0032 | a0019c0034a0032c0064 | a0019c0034t0009a0032c0064t0001 | a0019c0034t0009g0252 a0019c0034t0009g0253 a0032c0064t0001g0208 |
3 | 324 | 0.0093 | 0 | c.247 others(4): Show |
p.Asn others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/23 | 2815/5833 | 2476/3666 | 826/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77320076 | G | T | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(238): Show |
a0001a0003a0004others(27): Show | a0001c0001a0001c0016a0001c0023others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(93): Show | a0001c0001t0001g0119 a0001c0001t0002g0001 a0001c0001t0002g0025 others(237): Show |
241 | 324 | 0.7438 | 0 | c.230 others(4): Show |
p.Leu others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/23 | 2644/5833 | 2305/3666 | 769/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77325877 | G | A | missense_variant | MODERATE | HG03139.hp1 | a0034 | a0034c0041 | a0034c0041t0002 | a0034c0041t0002g0231 | 1 | 324 | 0.0031 | 0 | c.202 others(4): Show |
p.Thr others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 13/23 | 2360/5833 | 2021/3666 | 674/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77326022 | A | T | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(184): Show |
a0001a0003a0006others(16): Show | a0001c0001a0001c0016a0001c0023others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0119 a0001c0001t0002g0001 a0001c0001t0002g0025 others(183): Show |
187 | 324 | 0.5772 | 0 | c.187 others(4): Show |
p.Leu others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 13/23 | 2215/5833 | 1876/3666 | 626/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77335835 | C | T | missense_variant | MODERATE | HG01070.hp2 NA19006.hp1 |
a0026a0039 | a0026c0036a0039c0045 | a0026c0036t0006a0039c0045t0006 | a0026c0036t0006g0292 a0039c0045t0006g0206 |
2 | 324 | 0.0062 | 0 | c.178 others(4): Show |
p.Ala others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/23 | 2119/5833 | 1780/3666 | 594/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77335879 | T | G | missense_variant | MODERATE | NA19006.hp1 | a0039 | a0039c0045 | a0039c0045t0006 | a0039c0045t0006g0206 | 1 | 324 | 0.0031 | 0 | c.173 others(4): Show |
p.Lys others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/23 | 2075/5833 | 1736/3666 | 579/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77353842 | C | T | missense_variant | MODERATE | HG00544.hp2 | a0025 | a0025c0048 | a0025c0048t0002 | a0025c0048t0002g0077 | 1 | 324 | 0.0031 | 0 | c.150 others(4): Show |
p.Gly others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 10/23 | 1844/5833 | 1505/3666 | 502/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77355994 | T | C | missense_variant | MODERATE | HG02895.hp1 HG02897.hp2 |
a0023 | a0023c0032 | a0023c0032t0018 | a0023c0032t0018g0175 a0023c0032t0018g0176 |
2 | 324 | 0.0062 | 0 | c.140 others(4): Show |
p.Asn others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 9/23 | 1745/5833 | 1406/3666 | 469/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77367527 | T | G | missense_variant | MODERATE | HG02055.hp2 | a0031 | a0031c0047 | a0031c0047t0005 | a0031c0047t0005g0162 | 1 | 324 | 0.0031 | 0 | c.692 others(3): Show |
p.His others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/23 | 1031/5833 | 692/3666 | 231/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77367566 | G | C | missense_variant | MODERATE | HG02055.hp2 | a0031 | a0031c0047 | a0031c0047t0005 | a0031c0047t0005g0162 | 1 | 324 | 0.0031 | 0 | c.653 others(3): Show |
p.Pro others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/23 | 992/5833 | 653/3666 | 218/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77367618 | C | T | missense_variant | MODERATE | HG03041.hp1 HG03139.hp2 |
a0024 | a0024c0028 | a0024c0028t0030a0024c0028t0051 | a0024c0028t0030g0306 a0024c0028t0051g0322 |
2 | 324 | 0.0062 | 0 | c.601 others(3): Show |
p.Val others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/23 | 940/5833 | 601/3666 | 201/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77367648 | A | G | missense_variant | MODERATE | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(138): Show |
a0001a0003a0008others(15): Show | a0001c0001a0001c0016a0001c0023others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0119 a0001c0001t0002g0001 a0001c0001t0002g0025 others(137): Show |
141 | 324 | 0.4352 | 0 | c.571 others(3): Show |
p.Tyr others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/23 | 910/5833 | 571/3666 | 191/1221 | chr16 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129461341 | C | G | missense_variant | MODERATE | HG02145.hp1 | a0008 | a0008c0021 | a0008c0021t0003 | a0008c0021t0003g0155 | 1 | 224 | 0.0045 | 0 | c.331 others(3): Show |
p.Pro others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 425/5201 | 331/3642 | 111/1213 | chr5 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129461456 | C | T | missense_variant | MODERATE | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109 | 1 | 224 | 0.0045 | 0 | c.446 others(3): Show |
p.Pro others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 540/5201 | 446/3642 | 149/1213 | chr5 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129461632 | G | A | missense_variant | MODERATE | HG02486.hp1 HG02559.hp1 HG02970.hp2 |
a0004 | a0004c0008 | a0004c0008t0008a0004c0008t0012 | a0004c0008t0008g0049 a0004c0008t0008g0050 a0004c0008t0012g0051 |
3 | 224 | 0.0134 | 0 | c.622 others(3): Show |
p.Gly others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 716/5201 | 622/3642 | 208/1213 | chr5 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129622206 | C | T | missense_variant | MODERATE | HG02071.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0137 | 1 | 224 | 0.0045 | 0 | c.162 others(4): Show |
p.Ala others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 10/23 | 1722/5201 | 1628/3642 | 543/1213 | chr5 | TogoVar |