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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM8_chr10_133257423_133281868 | 133273791 | G | A | synonymous_variant | LOW | HG03579.hp1 HG03579.hp2 |
a0013 | a0013c0015 | a0013c0015t0006a0013c0015t0007 | a0013c0015t0006g0164 a0013c0015t0007g0165 |
2 | 384 | 0.0052 | 0 | c.354 others(3): Show |
p.Ala others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 5/23 | 405/3259 | 354/2475 | 118/824 | chr10 | TogoVar | |||
ADAM8_chr10_133257423_133281868 | 133273969 | C | T | synonymous_variant | LOW | NA18747.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0053 | 1 | 384 | 0.0026 | 0 | c.288 others(3): Show |
p.Thr others(5): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 4/23 | 339/3259 | 288/2475 | 96/824 | chr10 | TogoVar | |||
ADAM8_chr10_133257423_133281868 | 133274017 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(266): Show |
a0001a0003a0005others(16): Show | a0001c0001a0001c0013a0001c0028others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(101): Show |
269 | 384 | 0.7005 | 0 | c.240 others(3): Show |
p.Gly others(5): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 4/23 | 291/3259 | 240/2475 | 80/824 | chr10 | TogoVar | |||
ADAM8_chr10_133257423_133281868 | 133275541 | G | A | synonymous_variant | LOW | HG02027.hp2 | a0018 | a0018c0040 | a0018c0040t0001 | a0018c0040t0001g0144 | 1 | 384 | 0.0026 | 0 | c.93C others(2): Show |
p.Val others(5): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 2/23 | 144/3259 | 93/2475 | 31/824 | chr10 | TogoVar | |||
ADAM9_chr8_38991973_39110261 | 38997141 | C | A | synonymous_variant | LOW | HG00738.hp1 HG01081.hp1 HG01123.hp2 others(5): Show |
a0001a0004 | a0001c0003a0004c0005 | a0001c0003t0001a0004c0005t0001 | a0001c0003t0001g0206 a0001c0003t0001g0245 a0001c0003t0001g0258 others(5): Show |
8 | 330 | 0.0242 | 0 | c.78C others(2): Show |
p.Val others(5): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 1/22 | 169/4112 | 78/2460 | 26/819 | chr8 | TogoVar | |||
ADAM9_chr8_38991973_39110261 | 39042033 | A | G | synonymous_variant | LOW | HG02257.hp1 HG02258.hp2 HG02451.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0130 a0002c0002t0002g0187 a0002c0002t0002g0188 others(10): Show |
13 | 330 | 0.0394 | 0 | c.121 others(4): Show |
p.Pro others(6): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/22 | 1309/4112 | 1218/2460 | 406/819 | chr8 | TogoVar | |||
ADAM9_chr8_38991973_39110261 | 39042051 | T | C | synonymous_variant | LOW | NA18945.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0256 | 1 | 330 | 0.0030 | 0 | c.123 others(4): Show |
p.Tyr others(6): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/22 | 1327/4112 | 1236/2460 | 412/819 | chr8 | TogoVar | |||
ADAM9_chr8_38991973_39110261 | 39077258 | G | A | synonymous_variant | LOW | HG02165.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0268 | 1 | 330 | 0.0030 | 0 | c.172 others(4): Show |
p.Glu others(6): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 16/22 | 1819/4112 | 1728/2460 | 576/819 | chr8 | TogoVar | |||
ADAMDEC1_chr8_24379285_24411013 | 24398539 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00673.hp1 HG00673.hp2 others(26): Show |
a0002a0010 | a0002c0003a0010c0013 | a0002c0003t0002a0002c0003t0006a0010c0013t0002 | a0002c0003t0002g0003 a0002c0003t0002g0029 a0002c0003t0002g0064 others(6): Show |
29 | 402 | 0.0721 | 0 | c.750 others(3): Show |
p.Asn others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 8/14 | 970/2348 | 750/1413 | 250/470 | 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 | a0003c0004t0005g0014 a0003c0004t0005g0139 a0004c0005t0002g0047 |
8 | 402 | 0.0199 | 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 | 24398957 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(104): Show |
a0002a0010 | a0002c0002a0002c0003a0010c0013 | a0002c0002t0002a0002c0002t0006a0002c0002t0012others(3): Show | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0013 others(27): Show |
107 | 402 | 0.2662 | 0 | c.846 others(3): Show |
p.Ser others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 9/14 | 1066/2348 | 846/1413 | 282/470 | chr8 | TogoVar | |||
ADAMDEC1_chr8_24379285_24411013 | 24398999 | T | C | synonymous_variant | LOW | HG01167.hp1 HG01169.hp2 HG02451.hp1 others(5): Show |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0005a0004c0005t0002 | a0003c0004t0005g0014 a0003c0004t0005g0139 a0004c0005t0002g0047 |
8 | 402 | 0.0199 | 0 | c.888 others(3): Show |
p.Ser others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 9/14 | 1108/2348 | 888/1413 | 296/470 | chr8 | TogoVar | |||
ADAMDEC1_chr8_24379285_24411013 | 24401994 | C | T | synonymous_variant | LOW | HG01106.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0008 | 1 | 402 | 0.0025 | 0 | c.122 others(4): Show |
p.Leu others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 12/14 | 1442/2348 | 1222/1413 | 408/470 | 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 | a0003c0004t0005g0014 a0003c0004t0005g0139 a0004c0005t0002g0047 |
8 | 402 | 0.0199 | 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 | 8584995 | C | T | synonymous_variant | LOW | HG00408.hp2 HG00621.hp2 HG02257.hp1 others(10): Show |
a0004a0006a0011 | a0004c0006a0006c0008a0011c0024 | a0004c0006t0004a0004c0006t0009a0006c0008t0006others(1): Show | a0004c0006t0004g0121 a0004c0006t0004g0161 a0004c0006t0004g0170 others(10): Show |
13 | 382 | 0.0340 | 0 | c.310 others(4): Show |
p.Thr others(7): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/26 | 3388/4251 | 3102/3312 | 1034/1103 | chr19 | TogoVar | |||
ADAMTS10_chr19_8575240_8615715 | 8586678 | A | G | synonymous_variant | LOW | HG00639.hp1 HG00673.hp1 HG00733.hp1 others(62): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0009a0002c0005others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(12): Show | a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0053 others(59): Show |
65 | 382 | 0.1702 | 0 | c.228 others(4): Show |
p.Pro others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 20/26 | 2569/4251 | 2283/3312 | 761/1103 | chr19 | TogoVar | |||
ADAMTS10_chr19_8575240_8615715 | 8586714 | C | T | synonymous_variant | LOW | HG03491.hp2 | a0001 | a0001c0019 | a0001c0019t0016 | a0001c0019t0016g0037 | 1 | 382 | 0.0026 | 0 | c.224 others(4): Show |
p.Lys others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 20/26 | 2533/4251 | 2247/3312 | 749/1103 | chr19 | TogoVar | |||
ADAMTS10_chr19_8575240_8615715 | 8589246 | C | T | synonymous_variant | LOW | HG01891.hp2 HG02451.hp2 |
a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0340 a0001c0011t0002g0358 |
2 | 382 | 0.0052 | 0 | c.215 others(4): Show |
p.Gly others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 18/26 | 2440/4251 | 2154/3312 | 718/1103 | chr19 | TogoVar | |||
ADAMTS10_chr19_8575240_8615715 | 8589470 | G | A | synonymous_variant | LOW | HG02280.hp1 | a0001 | a0001c0023 | a0001c0023t0002 | a0001c0023t0002g0283 | 1 | 382 | 0.0026 | 0 | c.201 others(4): Show |
p.Cys others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 17/26 | 2302/4251 | 2016/3312 | 672/1103 | chr19 | TogoVar | |||
ADAMTS10_chr19_8575240_8615715 | 8589560 | C | T | synonymous_variant | LOW | HG02886.hp2 | a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0126 | 1 | 382 | 0.0026 | 0 | c.192 others(4): Show |
p.Thr others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 17/26 | 2212/4251 | 1926/3312 | 642/1103 | chr19 | TogoVar | |||
ADAMTS10_chr19_8575240_8615715 | 8589566 | C | T | synonymous_variant | LOW | HG03195.hp2 | a0011 | a0011c0024 | a0011c0024t0006 | a0011c0024t0006g0254 | 1 | 382 | 0.0026 | 0 | c.192 others(4): Show |
p.Ser others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 17/26 | 2206/4251 | 1920/3312 | 640/1103 | chr19 | TogoVar | |||
ADAMTS10_chr19_8575240_8615715 | 8589986 | A | G | synonymous_variant | LOW | HG03130.hp1 HG03195.hp1 NA18522.hp1 |
a0001 | a0001c0009 | a0001c0009t0001a0001c0009t0002 | a0001c0009t0001g0195 a0001c0009t0001g0196 a0001c0009t0002g0020 |
3 | 382 | 0.0079 | 0 | c.180 others(4): Show |
p.Cys others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 16/26 | 2089/4251 | 1803/3312 | 601/1103 | chr19 | TogoVar | |||
ADAMTS10_chr19_8575240_8615715 | 8595891 | C | A | synonymous_variant | LOW | HG02896.hp2 HG02897.hp2 NA19030.hp2 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0156 a0001c0010t0001g0158 a0001c0010t0001g0159 |
3 | 382 | 0.0079 | 0 | c.135 others(4): Show |
p.Gly others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 12/26 | 1636/4251 | 1350/3312 | 450/1103 | chr19 | TogoVar | |||
ADAMTS10_chr19_8575240_8615715 | 8603882 | G | A | splice_region_variant others(1): Show |
LOW | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0035 a0001c0013t0001g0036 |
2 | 382 | 0.0052 | 0 | c.438 others(3): Show |
p.His others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 5/26 | 724/4251 | 438/3312 | 146/1103 | chr19 | TogoVar | |||
ADAMTS10_chr19_8575240_8615715 | 8605243 | C | T | synonymous_variant | LOW | HG02723.hp1 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0125 | 1 | 382 | 0.0026 | 0 | c.204 others(3): Show |
p.Thr others(5): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 4/26 | 490/4251 | 204/3312 | 68/1103 | chr19 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33527215 | C | T | synonymous_variant | LOW | HG02615.hp2 | a0002 | a0002c0037 | a0002c0037t0004 | a0002c0037t0004g0043 | 1 | 222 | 0.0045 | 0 | c.475 others(4): Show |
p.Arg others(7): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 24/24 | 4892/8572 | 4758/4785 | 1586/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33534948 | T | C | synonymous_variant | LOW | HG00323.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0116 | 1 | 222 | 0.0045 | 0 | c.449 others(4): Show |
p.Gln others(7): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 23/24 | 4625/8572 | 4491/4785 | 1497/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33549273 | A | T | synonymous_variant | LOW | HG00408.hp1 | a0001 | a0001c0036 | a0001c0036t0004 | a0001c0036t0004g0014 | 1 | 222 | 0.0045 | 0 | c.423 others(4): Show |
p.Pro others(7): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 21/24 | 4370/8572 | 4236/4785 | 1412/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33549282 | G | A | synonymous_variant | LOW | HG01175.hp2 HG01517.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0008a0001c0050 | a0001c0008t0005a0001c0050t0005 | a0001c0008t0005g0027 a0001c0008t0005g0031 a0001c0008t0005g0069 others(2): Show |
5 | 222 | 0.0225 | 0 | c.422 others(4): Show |
p.Ala others(7): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 21/24 | 4361/8572 | 4227/4785 | 1409/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33576846 | T | C | synonymous_variant | LOW | HG01069.hp2 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0032 | 1 | 222 | 0.0045 | 0 | c.318 others(4): Show |
p.Gly others(7): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 19/24 | 3314/8572 | 3180/4785 | 1060/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33576963 | G | A | synonymous_variant | LOW | HG03195.hp1 | a0004 | a0004c0019 | a0004c0019t0007 | a0004c0019t0007g0205 | 1 | 222 | 0.0045 | 0 | c.306 others(4): Show |
p.Pro others(7): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 19/24 | 3197/8572 | 3063/4785 | 1021/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33614362 | C | A | synonymous_variant | LOW | HG02258.hp2 HG02559.hp1 HG02717.hp1 others(6): Show |
a0001a0002a0004others(4): Show | a0001c0016a0001c0025a0001c0035others(6): Show | a0001c0016t0001a0001c0025t0012a0001c0035t0001others(6): Show | a0001c0016t0001g0208 a0001c0025t0012g0217 a0001c0035t0001g0036 others(6): Show |
9 | 222 | 0.0405 | 0 | c.240 others(4): Show |
p.Val others(6): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 16/24 | 2537/8572 | 2403/4785 | 801/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33624325 | A | G | synonymous_variant | LOW | HG00323.hp1 HG01175.hp1 HG02071.hp1 others(41): Show |
a0001a0002a0004others(10): Show | a0001c0003a0001c0016a0001c0031others(13): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(19): Show | a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0008 others(41): Show |
44 | 222 | 0.1982 | 0 | c.204 others(4): Show |
p.Asp others(6): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 14/24 | 2183/8572 | 2049/4785 | 683/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33643455 | G | A | synonymous_variant | LOW | HG01243.hp1 HG02486.hp1 HG02572.hp2 others(14): Show |
a0001a0002a0003others(9): Show | a0001c0011a0002c0009a0003c0043others(9): Show | a0001c0011t0001a0001c0011t0003a0002c0009t0001others(11): Show | a0001c0011t0001g0163 a0001c0011t0001g0164 a0001c0011t0003g0107 others(14): Show |
17 | 222 | 0.0766 | 0 | c.149 others(4): Show |
p.Leu others(6): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 10/24 | 1629/8572 | 1495/4785 | 499/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33649598 | C | T | synonymous_variant | LOW | HG02970.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0189 | 1 | 222 | 0.0045 | 0 | c.129 others(4): Show |
p.Leu others(6): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 8/24 | 1424/8572 | 1290/4785 | 430/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33658228 | C | T | synonymous_variant | LOW | HG02896.hp1 NA19043.hp1 |
a0001a0002 | a0001c0027a0002c0026 | a0001c0027t0004a0002c0026t0002 | a0001c0027t0004g0026 a0002c0026t0002g0160 |
2 | 222 | 0.0090 | 0 | c.114 others(4): Show |
p.Ser others(6): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/24 | 1280/8572 | 1146/4785 | 382/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33661939 | G | A | synonymous_variant | LOW | HG03486.hp1 | a0008 | a0008c0045 | a0008c0045t0008 | a0008c0045t0008g0085 | 1 | 222 | 0.0045 | 0 | c.101 others(4): Show |
p.His others(6): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 6/24 | 1151/8572 | 1017/4785 | 339/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33683901 | C | T | synonymous_variant | LOW | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(4): Show |
a0001a0003a0004 | a0001c0016a0001c0018a0001c0024others(4): Show | a0001c0016t0001a0001c0018t0008a0001c0024t0001others(4): Show | a0001c0016t0001g0208 a0001c0018t0008g0207 a0001c0024t0001g0050 others(4): Show |
7 | 222 | 0.0315 | 0 | c.789 others(3): Show |
p.Gly others(6): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 4/24 | 923/8572 | 789/4785 | 263/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33881194 | G | A | synonymous_variant | LOW | HG02280.hp1 NA20129.hp2 |
a0001a0004 | a0001c0050a0004c0049 | a0001c0050t0005a0004c0049t0014 | a0001c0050t0005g0202 a0004c0049t0014g0190 |
2 | 222 | 0.0090 | 0 | c.414 others(3): Show |
p.Leu others(6): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/24 | 548/8572 | 414/4785 | 138/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33881380 | C | T | synonymous_variant | LOW | HG01884.hp1 HG02559.hp1 HG02622.hp2 others(2): Show |
a0001a0004a0019 | a0001c0016a0001c0018a0004c0017others(2): Show | a0001c0016t0001a0001c0018t0008a0004c0017t0013others(2): Show | a0001c0016t0001g0208 a0001c0018t0008g0207 a0004c0017t0013g0209 others(2): Show |
5 | 222 | 0.0225 | 0 | c.228 others(3): Show |
p.Thr others(5): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/24 | 362/8572 | 228/4785 | 76/1594 | chr5 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133425552 | G | A | synonymous_variant | LOW | HG01069.hp2 HG01071.hp1 HG03491.hp1 others(1): Show |
a0015a0019 | a0015c0024a0019c0025 | a0015c0024t0001a0019c0025t0001 | a0015c0024t0001g0024 a0019c0025t0001g0126 a0019c0025t0001g0127 |
4 | 362 | 0.0110 | 0 | c.354 others(3): Show |
p.Pro others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 4/29 | 431/4399 | 354/4116 | 118/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133425555 | C | T | synonymous_variant | LOW | HG02451.hp2 HG03471.hp2 HG06807.hp2 |
a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0234 a0001c0017t0002g0293 a0001c0017t0002g0294 |
3 | 362 | 0.0083 | 0 | c.357 others(3): Show |
p.Ser others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 4/29 | 434/4399 | 357/4116 | 119/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133425943 | T | C | synonymous_variant | LOW | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(130): Show |
a0001a0002a0003others(8): Show | a0001c0005a0001c0017a0001c0027others(25): Show | a0001c0005t0001a0001c0017t0002a0001c0027t0001others(25): Show | a0001c0005t0001g0255 a0001c0005t0001g0256 a0001c0005t0001g0257 others(116): Show |
133 | 362 | 0.3674 | 0 | c.420 others(3): Show |
p.Ala others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 5/29 | 497/4399 | 420/4116 | 140/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133426205 | C | T | synonymous_variant | LOW | NA19077.hp2 | a0001 | a0001c0057 | a0001c0057t0001 | a0001c0057t0001g0218 | 1 | 362 | 0.0028 | 0 | c.546 others(3): Show |
p.Asp others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 6/29 | 623/4399 | 546/4116 | 182/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133426241 | C | T | synonymous_variant | LOW | HG01069.hp2 HG01071.hp1 HG03491.hp1 others(1): Show |
a0015a0019 | a0015c0024a0019c0025 | a0015c0024t0001a0019c0025t0001 | a0015c0024t0001g0024 a0019c0025t0001g0126 a0019c0025t0001g0127 |
4 | 362 | 0.0110 | 0 | c.582 others(3): Show |
p.Gly others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 6/29 | 659/4399 | 582/4116 | 194/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133430050 | C | T | synonymous_variant | LOW | HG02145.hp2 HG02257.hp1 HG02647.hp2 others(5): Show |
a0011a0014a0024 | a0011c0015a0014c0023a0014c0056others(1): Show | a0011c0015t0001a0014c0023t0001a0014c0056t0001others(1): Show | a0011c0015t0001g0023 a0011c0015t0001g0068 a0011c0015t0001g0262 others(4): Show |
8 | 362 | 0.0221 | 0 | c.936 others(3): Show |
p.Arg others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 8/29 | 1013/4399 | 936/4116 | 312/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133439376 | G | A | synonymous_variant | LOW | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(152): Show |
a0001a0002a0003others(16): Show | a0001c0005a0001c0017a0001c0027others(37): Show | a0001c0005t0001a0001c0017t0002a0001c0027t0001others(37): Show | a0001c0005t0001g0255 a0001c0005t0001g0256 a0001c0005t0001g0257 others(136): Show |
155 | 362 | 0.4282 | 0 | c.171 others(4): Show |
p.Thr others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 15/29 | 1793/4399 | 1716/4116 | 572/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133440354 | C | T | synonymous_variant | LOW | HG02647.hp2 HG02818.hp1 HG03486.hp2 others(1): Show |
a0014a0024 | a0014c0023a0014c0056a0024c0055 | a0014c0023t0001a0014c0056t0001a0024c0055t0001 | a0014c0023t0001g0303 a0014c0023t0001g0309 a0014c0056t0001g0304 others(1): Show |
4 | 362 | 0.0110 | 0 | c.179 others(4): Show |
p.Ile others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 16/29 | 1874/4399 | 1797/4116 | 599/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133440387 | C | T | synonymous_variant | LOW | HG02109.hp2 HG03195.hp2 HG03540.hp2 |
a0003 | a0003c0019a0003c0035 | a0003c0019t0001a0003c0035t0001 | a0003c0019t0001g0131 a0003c0019t0001g0239 a0003c0035t0001g0240 |
3 | 362 | 0.0083 | 0 | c.183 others(4): Show |
p.Ser others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 16/29 | 1907/4399 | 1830/4116 | 610/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133440456 | C | T | synonymous_variant | LOW | HG01891.hp2 HG02818.hp2 |
a0002a0025 | a0002c0040a0025c0053 | a0002c0040t0001a0025c0053t0001 | a0002c0040t0001g0300 a0025c0053t0001g0298 |
2 | 362 | 0.0055 | 0 | c.189 others(4): Show |
p.Thr others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 16/29 | 1976/4399 | 1899/4116 | 633/1371 | chr9 | TogoVar |