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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS18_chr16_77277128_77440034 | 77320032 | C | T | synonymous_variant | LOW | HG03041.hp1 HG03139.hp2 |
a0024 | a0024c0028 | a0024c0028t0030a0024c0028t0051 | a0024c0028t0030g0306 a0024c0028t0051g0322 |
2 | 324 | 0.0062 | 0 | c.234 others(4): Show |
p.Gln others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/23 | 2688/5833 | 2349/3666 | 783/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77321125 | A | C | synonymous_variant | LOW | HG00733.hp2 | a0005 | a0005c0052 | a0005c0052t0041 | a0005c0052t0041g0287 | 1 | 324 | 0.0031 | 0 | c.224 others(4): Show |
p.Thr others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 15/23 | 2580/5833 | 2241/3666 | 747/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77321176 | G | A | synonymous_variant | LOW | HG03041.hp1 HG03139.hp2 |
a0024 | a0024c0028 | a0024c0028t0030a0024c0028t0051 | a0024c0028t0030g0306 a0024c0028t0051g0322 |
2 | 324 | 0.0062 | 0 | c.219 others(4): Show |
p.Gly others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 15/23 | 2529/5833 | 2190/3666 | 730/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77341782 | A | C | synonymous_variant | LOW | HG00621.hp2 HG02074.hp2 HG03927.hp1 |
a0010 | a0010c0019 | a0010c0019t0006a0010c0019t0024 | a0010c0019t0006g0100 a0010c0019t0024g0060 a0010c0019t0024g0098 |
3 | 324 | 0.0093 | 0 | c.163 others(4): Show |
p.Leu others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 11/23 | 1971/5833 | 1632/3666 | 544/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77353883 | T | G | synonymous_variant | LOW | HG03688.hp2 | a0001 | a0001c0046 | a0001c0046t0004 | a0001c0046t0004g0062 | 1 | 324 | 0.0031 | 0 | c.146 others(4): Show |
p.Thr others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 10/23 | 1803/5833 | 1464/3666 | 488/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77356059 | A | G | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0016a0001c0023others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(112): Show | a0001c0001t0001g0119 a0001c0001t0002g0001 a0001c0001t0002g0025 others(288): Show |
292 | 324 | 0.9012 | 0 | c.134 others(4): Show |
p.Asp others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 9/23 | 1680/5833 | 1341/3666 | 447/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77362255 | A | G | synonymous_variant | LOW | HG01099.hp1 | a0001 | a0001c0035 | a0001c0035t0020 | a0001c0035t0020g0259 | 1 | 324 | 0.0031 | 0 | c.106 others(4): Show |
p.Leu others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 7/23 | 1405/5833 | 1066/3666 | 356/1221 | chr16 | TogoVar | |||
ADAMTS18_chr16_77277128_77440034 | 77431574 | G | C | synonymous_variant | LOW | HG01256.hp1 HG01258.hp2 |
a0019 | a0019c0034 | a0019c0034t0009 | a0019c0034t0009g0252 a0019c0034t0009g0253 |
2 | 324 | 0.0062 | 0 | c.216 others(3): Show |
p.Ala others(5): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/23 | 555/5833 | 216/3666 | 72/1221 | chr16 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129460475 | C | T | synonymous_variant | LOW | HG02970.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0054 | 1 | 224 | 0.0045 | 0 | c.84C others(2): Show |
p.Ile others(5): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 1/23 | 178/5201 | 84/3642 | 28/1213 | chr5 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129461412 | G | A | synonymous_variant | LOW | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(55): Show |
a0001a0002 | a0001c0009a0002c0002a0002c0004others(1): Show | a0001c0009t0001a0002c0002t0001a0002c0002t0002others(9): Show | a0001c0009t0001g0058 a0002c0002t0001g0057 a0002c0002t0001g0060 others(55): Show |
58 | 224 | 0.2589 | 0 | c.402 others(3): Show |
p.Gly others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 496/5201 | 402/3642 | 134/1213 | chr5 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129461463 | C | G | synonymous_variant | LOW | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(61): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0009others(4): Show | a0001c0001t0001a0001c0007t0002a0001c0007t0004others(13): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0007t0002g0013 others(61): Show |
64 | 224 | 0.2857 | 0 | c.453 others(3): Show |
p.Pro others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 547/5201 | 453/3642 | 151/1213 | chr5 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129461565 | G | C | synonymous_variant | LOW | HG02896.hp2 HG03453.hp1 NA19030.hp1 |
a0001 | a0001c0007 | a0001c0007t0002a0001c0007t0004 | a0001c0007t0002g0013 a0001c0007t0004g0011 a0001c0007t0004g0012 |
3 | 224 | 0.0134 | 0 | c.555 others(3): Show |
p.Leu others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 649/5201 | 555/3642 | 185/1213 | chr5 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129509145 | A | G | synonymous_variant | LOW | HG00735.hp1 HG00735.hp2 HG01081.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0004a0002c0010others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0010others(8): Show | a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 others(27): Show |
30 | 224 | 0.1339 | 0 | c.816 others(3): Show |
p.Thr others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/23 | 910/5201 | 816/3642 | 272/1213 | chr5 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129527768 | C | T | synonymous_variant | LOW | HG02055.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0128 | 1 | 224 | 0.0045 | 0 | c.110 others(4): Show |
p.His others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 5/23 | 1201/5201 | 1107/3642 | 369/1213 | chr5 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129527825 | A | G | synonymous_variant | LOW | HG00621.hp2 HG02970.hp1 HG03017.hp2 others(4): Show |
a0001 | a0001c0006a0001c0022 | a0001c0006t0001a0001c0006t0002a0001c0006t0006others(1): Show | a0001c0006t0001g0122 a0001c0006t0001g0123 a0001c0006t0001g0126 others(4): Show |
7 | 224 | 0.0313 | 0 | c.116 others(4): Show |
p.Glu others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 5/23 | 1258/5201 | 1164/3642 | 388/1213 | chr5 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129648912 | T | C | synonymous_variant | LOW | HG02976.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0017 | 1 | 224 | 0.0045 | 0 | c.211 others(4): Show |
p.Tyr others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 13/23 | 2212/5201 | 2118/3642 | 706/1213 | chr5 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129665554 | G | A | synonymous_variant | LOW | HG02965.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0096 | 1 | 224 | 0.0045 | 0 | c.248 others(4): Show |
p.Glu others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 16/23 | 2575/5201 | 2481/3642 | 827/1213 | chr5 | TogoVar | |||
ADAMTS19_chr5_129455298_129743683 | 129704307 | T | C | synonymous_variant | LOW | NA18906.hp2 | a0001 | a0001c0013 | a0001c0013t0014 | a0001c0013t0014g0198 | 1 | 224 | 0.0045 | 0 | c.322 others(4): Show |
p.Cys others(7): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/23 | 3322/5201 | 3228/3642 | 1076/1213 | chr5 | TogoVar | |||
ADAMTS1_chr21_26830755_26850409 | 26837711 | A | G | synonymous_variant | LOW | HG01515.hp2 HG01516.hp2 HG01517.hp1 others(1): Show |
a0001a0002 | a0001c0011a0002c0009 | a0001c0011t0009a0002c0009t0023 | a0001c0011t0009g0046 a0002c0009t0023g0058 |
4 | 478 | 0.0084 | 0 | c.277 others(4): Show |
p.Cys others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 9/9 | 3227/5183 | 2772/2904 | 924/967 | chr21 | TogoVar | |||
ADAMTS1_chr21_26830755_26850409 | 26840005 | C | T | synonymous_variant | LOW | NA18939.hp1 | a0002 | a0002c0015 | a0002c0015t0002 | a0002c0015t0002g0160 | 1 | 478 | 0.0021 | 0 | c.172 others(4): Show |
p.Thr others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 6/9 | 2177/5183 | 1722/2904 | 574/967 | chr21 | TogoVar | |||
ADAMTS1_chr21_26830755_26850409 | 26840441 | G | A | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(247): Show |
a0001a0004a0006others(8): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(48): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0015 others(99): Show |
250 | 478 | 0.5230 | 0 | c.150 others(4): Show |
p.Pro others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 5/9 | 1955/5183 | 1500/2904 | 500/967 | chr21 | TogoVar | |||
ADAMTS1_chr21_26830755_26850409 | 26841919 | T | C | synonymous_variant | LOW | NA19030.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0151 | 1 | 478 | 0.0021 | 0 | c.114 others(4): Show |
p.Arg others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 3/9 | 1604/5183 | 1149/2904 | 383/967 | chr21 | TogoVar | |||
ADAMTS1_chr21_26830755_26850409 | 26844355 | G | C | synonymous_variant | LOW | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(78): Show |
a0001a0003a0006 | a0001c0003a0001c0006a0003c0010others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0005others(16): Show | a0001c0003t0001g0006 a0001c0003t0001g0137 a0001c0003t0001g0138 others(28): Show |
81 | 478 | 0.1695 | 0 | c.600 others(3): Show |
p.Val others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 1055/5183 | 600/2904 | 200/967 | chr21 | TogoVar | |||
ADAMTS1_chr21_26830755_26850409 | 26844373 | G | T | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(283): Show |
a0001a0004a0006others(8): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(64): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0015 others(123): Show |
286 | 478 | 0.5983 | 0 | c.582 others(3): Show |
p.Val others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 1037/5183 | 582/2904 | 194/967 | chr21 | TogoVar | |||
ADAMTS1_chr21_26830755_26850409 | 26844472 | C | T | synonymous_variant | LOW | HG03927.hp2 | a0002 | a0002c0014 | a0002c0014t0006 | a0002c0014t0006g0155 | 1 | 478 | 0.0021 | 0 | c.483 others(3): Show |
p.Leu others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 938/5183 | 483/2904 | 161/967 | chr21 | TogoVar | |||
ADAMTS1_chr21_26830755_26850409 | 26844859 | T | G | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(285): Show |
a0001a0004a0006others(8): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(66): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0015 others(125): Show |
288 | 478 | 0.6025 | 0 | c.96A others(2): Show |
p.Pro others(5): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 551/5183 | 96/2904 | 32/967 | chr21 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43369341 | T | C | synonymous_variant | LOW | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0021 a0001c0012t0001g0022 |
2 | 304 | 0.0066 | 0 | c.548 others(4): Show |
p.Ala others(7): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 37/39 | 5769/6358 | 5487/5733 | 1829/1910 | chr12 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43375425 | A | C | synonymous_variant | LOW | HG00323.hp2 HG00408.hp2 HG00558.hp2 others(77): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0005a0001c0009others(9): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(12): Show | a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0129 others(77): Show |
80 | 304 | 0.2632 | 0 | c.540 others(4): Show |
p.Thr others(7): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 36/39 | 5682/6358 | 5400/5733 | 1800/1910 | chr12 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43375473 | T | C | synonymous_variant | LOW | HG00323.hp2 HG00408.hp2 HG00558.hp2 others(78): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0005a0001c0009others(10): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(13): Show | a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0129 others(78): Show |
81 | 304 | 0.2664 | 0 | c.535 others(4): Show |
p.Arg others(7): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 36/39 | 5634/6358 | 5352/5733 | 1784/1910 | chr12 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43383681 | G | A | synonymous_variant | LOW | HG02896.hp2 HG03453.hp2 |
a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0193 a0008c0013t0001g0195 |
2 | 304 | 0.0066 | 0 | c.467 others(4): Show |
p.Cys others(7): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 31/39 | 4956/6358 | 4674/5733 | 1558/1910 | chr12 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43425610 | G | A | synonymous_variant | LOW | NA18947.hp1 | a0002 | a0002c0027 | a0002c0027t0001 | a0002c0027t0001g0256 | 1 | 304 | 0.0033 | 0 | c.418 others(4): Show |
p.His others(7): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/39 | 4470/6358 | 4188/5733 | 1396/1910 | chr12 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43427317 | A | G | synonymous_variant | LOW | HG01109.hp1 HG02976.hp1 HG03209.hp1 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0136 a0003c0006t0001g0137 a0003c0006t0001g0191 others(1): Show |
4 | 304 | 0.0132 | 0 | c.409 others(4): Show |
p.Asn others(7): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 27/39 | 4380/6358 | 4098/5733 | 1366/1910 | chr12 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43432307 | G | A | synonymous_variant | LOW | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0021 a0001c0012t0001g0022 |
2 | 304 | 0.0066 | 0 | c.309 others(4): Show |
p.Ser others(7): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 21/39 | 3375/6358 | 3093/5733 | 1031/1910 | chr12 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43432445 | C | T | synonymous_variant | LOW | HG01884.hp1 HG02258.hp2 HG02451.hp1 others(1): Show |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0076 a0004c0007t0001g0152 a0004c0007t0001g0153 others(1): Show |
4 | 304 | 0.0132 | 0 | c.295 others(4): Show |
p.Gly others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 21/39 | 3237/6358 | 2955/5733 | 985/1910 | chr12 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43439936 | A | G | synonymous_variant | LOW | HG00408.hp2 HG03195.hp2 HG03688.hp2 others(9): Show |
a0001a0014a0018 | a0001c0005a0001c0022a0014c0016others(1): Show | a0001c0005t0001a0001c0022t0001a0014c0016t0001others(1): Show | a0001c0005t0001g0197 a0001c0005t0001g0213 a0001c0005t0001g0214 others(9): Show |
12 | 304 | 0.0395 | 0 | c.242 others(4): Show |
p.Ile others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 17/39 | 2706/6358 | 2424/5733 | 808/1910 | chr12 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43453945 | G | A | synonymous_variant | LOW | HG03688.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0170 | 1 | 304 | 0.0033 | 0 | c.172 others(4): Show |
p.Gly others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 12/39 | 2004/6358 | 1722/5733 | 574/1910 | chr12 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43466723 | A | G | synonymous_variant | LOW | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(129): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0009a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(129): Show |
132 | 304 | 0.4342 | 0 | c.129 others(4): Show |
p.Pro others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 9/39 | 1578/6358 | 1296/5733 | 432/1910 | chr12 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43551008 | C | T | synonymous_variant | LOW | HG00639.hp2 HG00738.hp2 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0012 a0001c0011t0001g0013 |
2 | 304 | 0.0066 | 0 | c.354 others(3): Show |
p.Glu others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/39 | 636/6358 | 354/5733 | 118/1910 | chr12 | TogoVar | |||
ADAMTS2_chr5_179105853_179350461 | 179114023 | G | T | synonymous_variant | LOW | HG02559.hp1 HG02630.hp1 HG02970.hp1 others(1): Show |
a0002a0012 | a0002c0104a0002c0105a0002c0109others(1): Show | a0002c0104t0027a0002c0105t0012a0002c0109t0012others(1): Show | a0002c0104t0027g0221 a0002c0105t0012g0208 a0002c0109t0012g0203 others(1): Show |
4 | 274 | 0.0146 | 0 | c.348 others(4): Show |
p.Ala others(7): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 22/22 | 3613/6783 | 3480/3636 | 1160/1211 | chr5 | TogoVar | |||
ADAMTS2_chr5_179105853_179350461 | 179114161 | G | A | synonymous_variant | LOW | HG00558.hp1 | a0003 | a0003c0057 | a0003c0057t0004 | a0003c0057t0004g0033 | 1 | 274 | 0.0036 | 0 | c.334 others(4): Show |
p.Asn others(7): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 22/22 | 3475/6783 | 3342/3636 | 1114/1211 | chr5 | TogoVar | |||
ADAMTS2_chr5_179105853_179350461 | 179114224 | A | G | synonymous_variant | LOW | HG01167.hp2 HG03195.hp2 |
a0001a0010 | a0001c0048a0010c0086 | a0001c0048t0004a0010c0086t0004 | a0001c0048t0004g0195 a0010c0086t0004g0201 |
2 | 274 | 0.0073 | 0 | c.327 others(4): Show |
p.Cys others(7): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 22/22 | 3412/6783 | 3279/3636 | 1093/1211 | chr5 | TogoVar | |||
ADAMTS2_chr5_179105853_179350461 | 179125168 | G | A | synonymous_variant | LOW | HG02647.hp1 | a0003 | a0003c0042 | a0003c0042t0001 | a0003c0042t0001g0145 | 1 | 274 | 0.0036 | 0 | c.276 others(4): Show |
p.Gly others(6): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 19/22 | 2896/6783 | 2763/3636 | 921/1211 | chr5 | TogoVar | |||
ADAMTS2_chr5_179105853_179350461 | 179126018 | T | C | synonymous_variant | LOW | HG00639.hp1 HG01934.hp2 HG02145.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0046a0001c0065a0001c0067others(9): Show | a0001c0046t0002a0001c0065t0002a0001c0067t0004others(9): Show | a0001c0046t0002g0194 a0001c0065t0002g0118 a0001c0067t0004g0048 others(9): Show |
12 | 274 | 0.0438 | 0 | c.273 others(4): Show |
p.Pro others(6): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 18/22 | 2863/6783 | 2730/3636 | 910/1211 | chr5 | TogoVar | |||
ADAMTS2_chr5_179105853_179350461 | 179128044 | G | A | synonymous_variant | LOW | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0018a0001c0022a0002c0016others(6): Show | a0001c0018t0002a0001c0022t0002a0002c0016t0002others(7): Show | a0001c0018t0002g0161 a0001c0018t0002g0176 a0001c0018t0002g0184 others(21): Show |
24 | 274 | 0.0876 | 0 | c.253 others(4): Show |
p.Asp others(6): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 17/22 | 2665/6783 | 2532/3636 | 844/1211 | chr5 | TogoVar | |||
ADAMTS2_chr5_179105853_179350461 | 179135921 | G | A | synonymous_variant | LOW | NA18954.hp2 | a0002 | a0002c0095 | a0002c0095t0001 | a0002c0095t0001g0253 | 1 | 274 | 0.0036 | 0 | c.207 others(4): Show |
p.Arg others(6): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/22 | 2206/6783 | 2073/3636 | 691/1211 | chr5 | TogoVar | |||
ADAMTS2_chr5_179105853_179350461 | 179135966 | G | A | synonymous_variant | LOW | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(47): Show |
a0001a0002a0003others(7): Show | a0001c0014a0001c0018a0001c0022others(23): Show | a0001c0014t0002a0001c0014t0008a0001c0014t0013others(31): Show | a0001c0014t0002g0072 a0001c0014t0002g0131 a0001c0014t0008g0063 others(47): Show |
50 | 274 | 0.1825 | 0 | c.202 others(4): Show |
p.Asp others(6): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/22 | 2161/6783 | 2028/3636 | 676/1211 | chr5 | TogoVar | |||
ADAMTS2_chr5_179105853_179350461 | 179137812 | G | A | synonymous_variant | LOW | HG01934.hp2 HG02145.hp2 HG03130.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0046a0001c0065a0001c0069others(4): Show | a0001c0046t0002a0001c0065t0002a0001c0069t0002others(4): Show | a0001c0046t0002g0194 a0001c0065t0002g0118 a0001c0069t0002g0044 others(4): Show |
7 | 274 | 0.0255 | 0 | c.190 others(4): Show |
p.His others(6): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 12/22 | 2041/6783 | 1908/3636 | 636/1211 | chr5 | TogoVar | |||
ADAMTS2_chr5_179105853_179350461 | 179137872 | G | C | synonymous_variant | LOW | NA18971.hp1 | a0003 | a0003c0059 | a0003c0059t0001 | a0003c0059t0001g0002 | 1 | 274 | 0.0036 | 0 | c.184 others(4): Show |
p.Pro others(6): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 12/22 | 1981/6783 | 1848/3636 | 616/1211 | chr5 | TogoVar | |||
ADAMTS2_chr5_179105853_179350461 | 179137917 | C | T | synonymous_variant | LOW | HG02145.hp2 HG03453.hp1 NA19240.hp2 |
a0001a0002 | a0001c0046a0001c0065a0002c0110 | a0001c0046t0002a0001c0065t0002a0002c0110t0002 | a0001c0046t0002g0194 a0001c0065t0002g0118 a0002c0110t0002g0205 |
3 | 274 | 0.0109 | 0 | c.180 others(4): Show |
p.Ser others(6): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 12/22 | 1936/6783 | 1803/3636 | 601/1211 | chr5 | TogoVar | |||
ADAMTS2_chr5_179105853_179350461 | 179139970 | G | A | synonymous_variant | LOW | NA18906.hp1 | a0002 | a0002c0106 | a0002c0106t0002 | a0002c0106t0002g0209 | 1 | 274 | 0.0036 | 0 | c.169 others(4): Show |
p.Gly others(6): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 11/22 | 1828/6783 | 1695/3636 | 565/1211 | chr5 | TogoVar |