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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOX2_chr3_58500136_58542190 | 58531783 | G | T | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.613 others(3): Show |
p.Gln others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 776/2297 | 613/2046 | 205/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531785 | A | C | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.611 others(3): Show |
p.Val others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 774/2297 | 611/2046 | 204/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531788 | A | C | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.608 others(3): Show |
p.Leu others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 771/2297 | 608/2046 | 203/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531791 | G | C | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.605 others(3): Show |
p.Ala others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 768/2297 | 605/2046 | 202/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531795 | G | C | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.601 others(3): Show |
p.His others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 764/2297 | 601/2046 | 201/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531798 | T | A | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.598 others(3): Show |
p.Thr others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 761/2297 | 598/2046 | 200/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531800 | G | T | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.596 others(3): Show |
p.Ala others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 759/2297 | 596/2046 | 199/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531807 | G | C | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.589 others(3): Show |
p.Arg others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 752/2297 | 589/2046 | 197/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58535003 | C | T | missense_variant | MODERATE | HG03471.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0064 | 1 | 362 | 0.0028 | 0 | c.104 others(3): Show |
p.Arg others(5): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 2/15 | 267/2297 | 104/2046 | 35/681 | chr3 | TogoVar | |||
ACOX3_chr4_8361282_8445723 | 8367048 | C | G | missense_variant | MODERATE | NA18939.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0308 | 1 | 378 | 0.0026 | 0 | c.201 others(4): Show |
p.Gln others(6): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 18/18 | 2106/2872 | 2016/2103 | 672/700 | chr4 | TogoVar | |||
ACOX3_chr4_8361282_8445723 | 8374992 | G | A | missense_variant | MODERATE | HG00735.hp2 | a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0223 | 1 | 378 | 0.0026 | 0 | c.181 others(4): Show |
p.Ala others(6): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 15/18 | 1904/2872 | 1814/2103 | 605/700 | chr4 | TogoVar | |||
ACOX3_chr4_8361282_8445723 | 8389221 | C | T | missense_variant | MODERATE | HG00735.hp1 HG01070.hp2 HG02258.hp2 others(5): Show |
a0002a0007 | a0002c0004a0002c0015a0007c0020 | a0002c0004t0001a0002c0004t0003a0002c0015t0002others(1): Show | a0002c0004t0001g0361 a0002c0004t0001g0362 a0002c0004t0003g0237 others(5): Show |
8 | 378 | 0.0212 | 0 | c.148 others(4): Show |
p.Asp others(6): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 13/18 | 1579/2872 | 1489/2103 | 497/700 | chr4 | TogoVar | |||
ACOX3_chr4_8361282_8445723 | 8389238 | G | A | missense_variant | MODERATE | HG00280.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0167 | 1 | 378 | 0.0026 | 0 | c.147 others(4): Show |
p.Ala others(6): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 13/18 | 1562/2872 | 1472/2103 | 491/700 | chr4 | TogoVar | |||
ACOX3_chr4_8361282_8445723 | 8389271 | C | G | missense_variant | MODERATE | HG01109.hp1 HG02615.hp2 |
a0003 | a0003c0008 | a0003c0008t0001a0003c0008t0003 | a0003c0008t0001g0230 a0003c0008t0003g0231 |
2 | 378 | 0.0053 | 0 | c.143 others(4): Show |
p.Arg others(6): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 13/18 | 1529/2872 | 1439/2103 | 480/700 | chr4 | TogoVar | |||
ACOX3_chr4_8361282_8445723 | 8392368 | C | G | missense_variant | MODERATE | NA18955.hp1 | a0010 | a0010c0017 | a0010c0017t0002 | a0010c0017t0002g0186 | 1 | 378 | 0.0026 | 0 | c.126 others(4): Show |
p.Cys others(6): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 11/18 | 1355/2872 | 1265/2103 | 422/700 | chr4 | TogoVar | |||
ACOX3_chr4_8361282_8445723 | 8392369 | A | C | missense_variant | MODERATE | NA18955.hp1 | a0010 | a0010c0017 | a0010c0017t0002 | a0010c0017t0002g0186 | 1 | 378 | 0.0026 | 0 | c.126 others(4): Show |
p.Cys others(6): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 11/18 | 1354/2872 | 1264/2103 | 422/700 | chr4 | TogoVar | |||
ACOX3_chr4_8361282_8445723 | 8392370 | T | A | missense_variant | MODERATE | NA18955.hp1 | a0010 | a0010c0017 | a0010c0017t0002 | a0010c0017t0002g0186 | 1 | 378 | 0.0026 | 0 | c.126 others(4): Show |
p.Glu others(6): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 11/18 | 1353/2872 | 1263/2103 | 421/700 | chr4 | TogoVar | |||
ACOX3_chr4_8361282_8445723 | 8392441 | G | A | missense_variant | MODERATE | HG00621.hp1 | a0005 | a0005c0018 | a0005c0018t0001 | a0005c0018t0001g0348 | 1 | 378 | 0.0026 | 0 | c.119 others(4): Show |
p.Arg others(6): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 11/18 | 1282/2872 | 1192/2103 | 398/700 | chr4 | TogoVar | |||
ACOX3_chr4_8361282_8445723 | 8414859 | T | G | missense_variant | MODERATE | HG03831.hp2 | a0008 | a0008c0023 | a0008c0023t0002 | a0008c0023t0002g0357 | 1 | 378 | 0.0026 | 0 | c.448 others(3): Show |
p.Met others(6): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 4/18 | 538/2872 | 448/2103 | 150/700 | chr4 | TogoVar | |||
ACOX3_chr4_8361282_8445723 | 8414862 | T | C | missense_variant | MODERATE | HG03239.hp2 | a0007 | a0007c0020 | a0007c0020t0009 | a0007c0020t0009g0364 | 1 | 378 | 0.0026 | 0 | c.445 others(3): Show |
p.Arg others(6): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 4/18 | 535/2872 | 445/2103 | 149/700 | chr4 | TogoVar | |||
ACOX3_chr4_8361282_8445723 | 8416421 | T | G | missense_variant | MODERATE | HG03831.hp2 | a0008 | a0008c0023 | a0008c0023t0002 | a0008c0023t0002g0357 | 1 | 378 | 0.0026 | 0 | c.101 others(3): Show |
p.Glu others(5): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 2/18 | 191/2872 | 101/2103 | 34/700 | chr4 | TogoVar | |||
ACOXL_chr2_110727573_111123548 | 110799040 | C | T | missense_variant | MODERATE | HG02257.hp2 | a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0002 | 1 | 148 | 0.0068 | 0 | c.487 others(3): Show |
p.Arg others(6): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 7/18 | 711/2699 | 487/1743 | 163/580 | chr2 | TogoVar | |||
ACOXL_chr2_110727573_111123548 | 110801654 | C | A | missense_variant others(1): Show |
MODERATE | HG03669.hp2 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0130 | 1 | 148 | 0.0068 | 0 | c.550 others(3): Show |
p.Leu others(6): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 8/18 | 774/2699 | 550/1743 | 184/580 | chr2 | TogoVar | |||
ACOXL_chr2_110727573_111123548 | 110805298 | C | T | missense_variant | MODERATE | HG00099.hp2 HG02735.hp1 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0091 a0007c0009t0001g0100 |
2 | 148 | 0.0135 | 0 | c.656 others(3): Show |
p.Ser others(6): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 9/18 | 880/2699 | 656/1743 | 219/580 | chr2 | TogoVar | |||
ACOXL_chr2_110727573_111123548 | 110841381 | C | T | missense_variant | MODERATE | HG00423.hp1 HG00673.hp1 HG01167.hp1 others(22): Show |
a0002a0005a0008 | a0002c0002a0002c0017a0005c0007others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(6): Show | a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0051 others(22): Show |
25 | 148 | 0.1689 | 0 | c.764 others(3): Show |
p.Thr others(6): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/18 | 988/2699 | 764/1743 | 255/580 | chr2 | TogoVar | |||
ACOXL_chr2_110727573_111123548 | 110908790 | C | T | missense_variant others(1): Show |
MODERATE | HG02897.hp2 HG02976.hp1 HG03516.hp2 others(1): Show |
a0006a0013 | a0006c0006a0013c0016 | a0006c0006t0001a0006c0006t0002a0013c0016t0001 | a0006c0006t0001g0001 a0006c0006t0001g0135 a0006c0006t0002g0146 others(1): Show |
4 | 148 | 0.0270 | 0 | c.790 others(3): Show |
p.Arg others(6): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 11/18 | 1014/2699 | 790/1743 | 264/580 | chr2 | TogoVar | |||
ACOXL_chr2_110727573_111123548 | 110995975 | C | T | missense_variant | MODERATE | HG02258.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0008 | 1 | 148 | 0.0068 | 0 | c.125 others(4): Show |
p.Arg others(6): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/18 | 1476/2699 | 1252/1743 | 418/580 | chr2 | TogoVar | |||
ACOXL_chr2_110727573_111123548 | 111092935 | C | T | missense_variant | MODERATE | HG04115.hp1 | a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0111 | 1 | 148 | 0.0068 | 0 | c.151 others(4): Show |
p.Thr others(6): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 17/18 | 1735/2699 | 1511/1743 | 504/580 | chr2 | TogoVar | |||
ACOXL_chr2_110727573_111123548 | 111092938 | C | T | missense_variant | MODERATE | HG00423.hp2 HG00438.hp1 HG00673.hp1 others(10): Show |
a0003a0005 | a0003c0004a0005c0007 | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(4): Show | a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0027 others(10): Show |
13 | 148 | 0.0878 | 0 | c.151 others(4): Show |
p.Pro others(6): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 17/18 | 1738/2699 | 1514/1743 | 505/580 | chr2 | TogoVar | |||
ACOXL_chr2_110727573_111123548 | 111117797 | A | G | missense_variant | MODERATE | NA19030.hp2 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0057 | 1 | 148 | 0.0068 | 0 | c.172 others(4): Show |
p.Lys others(6): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 18/18 | 1948/2699 | 1724/1743 | 575/580 | chr2 | TogoVar | |||
ACP1_chr2_259947_283283 | 264975 | A | G | missense_variant | MODERATE | HG02258.hp2 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0027 | 1 | 388 | 0.0026 | 0 | c.11A others(2): Show |
p.Gln others(4): Show |
ACP1 | ENSG00000143727.16 | transcript | ENST00000272065.10 | protein_coding | 1/6 | 29/1474 | 11/477 | 4/158 | chr2 | TogoVar | |||
ACP1_chr2_259947_283283 | 264985 | G | T | missense_variant | MODERATE | HG02055.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0072 | 1 | 388 | 0.0026 | 0 | c.21G others(2): Show |
p.Lys others(4): Show |
ACP1 | ENSG00000143727.16 | transcript | ENST00000272065.10 | protein_coding | 1/6 | 39/1474 | 21/477 | 7/158 | chr2 | TogoVar | |||
ACP1_chr2_259947_283283 | 272145 | C | T | missense_variant | MODERATE | HG01257.hp1 HG01258.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 2 | 388 | 0.0052 | 0 | c.226 others(3): Show |
p.Arg others(5): Show |
ACP1 | ENSG00000143727.16 | transcript | ENST00000272065.10 | protein_coding | 3/6 | 244/1474 | 226/477 | 76/158 | chr2 | TogoVar | |||
ACP1_chr2_259947_283283 | 277003 | A | G | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(97): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0006 | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0007 others(15): Show |
100 | 388 | 0.2577 | 0 | c.317 others(3): Show |
p.Gln others(6): Show |
ACP1 | ENSG00000143727.16 | transcript | ENST00000272065.10 | protein_coding | 5/6 | 335/1474 | 317/477 | 106/158 | chr2 | TogoVar | |||
ACP2_chr11_47234302_47253814 | 47240241 | C | G | missense_variant | MODERATE | HG01243.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0037 | 1 | 356 | 0.0028 | 0 | c.114 others(4): Show |
p.Val others(6): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 11/11 | 1172/2111 | 1147/1272 | 383/423 | chr11 | TogoVar | |||
ACP2_chr11_47234302_47253814 | 47242725 | G | A | missense_variant others(1): Show |
MODERATE | HG02257.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0060 | 1 | 356 | 0.0028 | 0 | c.113 others(4): Show |
p.Thr others(6): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 10/11 | 1161/2111 | 1136/1272 | 379/423 | chr11 | TogoVar | |||
ACP2_chr11_47234302_47253814 | 47245701 | A | T | missense_variant | MODERATE | NA19091.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0069 | 1 | 356 | 0.0028 | 0 | c.431 others(3): Show |
p.Val others(6): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 4/11 | 456/2111 | 431/1272 | 144/423 | chr11 | TogoVar | |||
ACP2_chr11_47234302_47253814 | 47245824 | C | T | missense_variant | MODERATE | NA18995.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0074 | 1 | 356 | 0.0028 | 0 | c.308 others(3): Show |
p.Arg others(6): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 4/11 | 333/2111 | 308/1272 | 103/423 | chr11 | TogoVar | |||
ACP2_chr11_47234302_47253814 | 47248704 | C | T | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(192): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(52): Show |
195 | 356 | 0.5478 | 0 | c.86G others(2): Show |
p.Arg others(5): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 1/11 | 111/2111 | 86/1272 | 29/423 | chr11 | TogoVar | |||
ACP2_chr11_47234302_47253814 | 47248762 | G | A | missense_variant | MODERATE | NA20129.hp2 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0086 | 1 | 356 | 0.0028 | 0 | c.28C others(2): Show |
p.Arg others(5): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 1/11 | 53/2111 | 28/1272 | 10/423 | chr11 | TogoVar | |||
ACP3_chr3_132312407_132363841 | 132328288 | A | C | missense_variant | MODERATE | HG02074.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0094 | 1 | 366 | 0.0027 | 0 | c.142 others(3): Show |
p.Ser others(5): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 2/10 | 192/3174 | 142/1161 | 48/386 | chr3 | TogoVar | |||
ACP3_chr3_132312407_132363841 | 132350001 | C | T | missense_variant others(1): Show |
MODERATE | HG00673.hp2 HG02056.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0237 a0003c0005t0001g0238 |
2 | 366 | 0.0055 | 0 | c.863 others(3): Show |
p.Ala others(6): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 8/10 | 913/3174 | 863/1161 | 288/386 | chr3 | TogoVar | |||
ACP3_chr3_132312407_132363841 | 132352758 | T | G | missense_variant | MODERATE | HG02647.hp2 HG02895.hp1 HG02897.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0007a0002c0004t0014 | a0002c0004t0007g0130 a0002c0004t0014g0019 a0002c0004t0014g0136 others(1): Show |
5 | 366 | 0.0137 | 0 | c.903 others(3): Show |
p.Asp others(6): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 9/10 | 953/3174 | 903/1161 | 301/386 | chr3 | TogoVar | |||
ACP3_chr3_132312407_132363841 | 132356745 | T | C | missense_variant | MODERATE | NA19057.hp1 NA19079.hp2 |
a0004 | a0004c0006 | a0004c0006t0003a0004c0006t0011 | a0004c0006t0003g0209 a0004c0006t0011g0251 |
2 | 366 | 0.0055 | 0 | c.102 others(4): Show |
p.Met others(6): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 10/10 | 1078/3174 | 1028/1161 | 343/386 | chr3 | TogoVar | |||
ACP4_chr19_50785415_50800219 | 50790841 | C | T | missense_variant | MODERATE | HG01099.hp2 HG02109.hp1 HG02145.hp1 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0001 a0003c0004t0001g0004 |
7 | 378 | 0.0185 | 0 | c.284 others(3): Show |
p.Pro others(5): Show |
ACP4 | ENSG00000142513.6 | transcript | ENST00000270593.2 | protein_coding | 3/11 | 284/1342 | 284/1281 | 95/426 | chr19 | TogoVar | |||
ACP4_chr19_50785415_50800219 | 50794568 | G | A | missense_variant | MODERATE | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(136): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0007 others(16): Show |
139 | 378 | 0.3677 | 0 | c.973 others(3): Show |
p.Ala others(6): Show |
ACP4 | ENSG00000142513.6 | transcript | ENST00000270593.2 | protein_coding | 9/11 | 973/1342 | 973/1281 | 325/426 | chr19 | TogoVar | |||
ACP4_chr19_50785415_50800219 | 50794569 | C | A | missense_variant | MODERATE | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(136): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0007 others(16): Show |
139 | 378 | 0.3677 | 0 | c.974 others(3): Show |
p.Ala others(6): Show |
ACP4 | ENSG00000142513.6 | transcript | ENST00000270593.2 | protein_coding | 9/11 | 974/1342 | 974/1281 | 325/426 | chr19 | TogoVar | |||
ACP4_chr19_50785415_50800219 | 50794578 | G | C | missense_variant | MODERATE | HG01192.hp1 HG01993.hp2 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0006 | 2 | 378 | 0.0053 | 0 | c.983 others(3): Show |
p.Gly others(6): Show |
ACP4 | ENSG00000142513.6 | transcript | ENST00000270593.2 | protein_coding | 9/11 | 983/1342 | 983/1281 | 328/426 | chr19 | TogoVar | |||
ACP5_chr19_11569660_11582645 | 11575186 | T | C | missense_variant | MODERATE | HG01175.hp2 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0082 | 1 | 442 | 0.0023 | 0 | c.802 others(3): Show |
p.Lys others(6): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 5/5 | 855/1381 | 802/978 | 268/325 | chr19 | TogoVar | |||
ACP5_chr19_11569660_11582645 | 11576317 | C | T | missense_variant | MODERATE | HG01109.hp1 HG01952.hp1 HG02055.hp1 others(22): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0005 a0003c0002t0001g0008 a0003c0002t0001g0023 others(2): Show |
25 | 442 | 0.0566 | 0 | c.661 others(3): Show |
p.Val others(6): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/5 | 714/1381 | 661/978 | 221/325 | chr19 | TogoVar |