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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOT4_chr14_73586873_73600766 | 73593804 | C | A | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG01069.hp2 others(11): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007 a0003c0004t0001g0024 a0003c0004t0001g0025 others(1): Show |
14 | 406 | 0.0345 | 0 | c.560 others(3): Show |
p.Ala others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 2/3 | 647/1465 | 560/1266 | 187/421 | chr14 | TogoVar | |||
ACOT4_chr14_73586873_73600766 | 73593809 | G | C | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG01069.hp2 others(11): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007 a0003c0004t0001g0024 a0003c0004t0001g0025 others(1): Show |
14 | 406 | 0.0345 | 0 | c.565 others(3): Show |
p.Ala others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 2/3 | 652/1465 | 565/1266 | 189/421 | chr14 | TogoVar | |||
ACOT4_chr14_73586873_73600766 | 73593810 | C | A | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG01069.hp2 others(11): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007 a0003c0004t0001g0024 a0003c0004t0001g0025 others(1): Show |
14 | 406 | 0.0345 | 0 | c.566 others(3): Show |
p.Ala others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 2/3 | 653/1465 | 566/1266 | 189/421 | chr14 | TogoVar | |||
ACOT4_chr14_73586873_73600766 | 73593812 | T | A | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG01069.hp2 others(11): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007 a0003c0004t0001g0024 a0003c0004t0001g0025 others(1): Show |
14 | 406 | 0.0345 | 0 | c.568 others(3): Show |
p.Tyr others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 2/3 | 655/1465 | 568/1266 | 190/421 | chr14 | TogoVar | |||
ACOT4_chr14_73586873_73600766 | 73593813 | A | G | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG01069.hp2 others(11): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007 a0003c0004t0001g0024 a0003c0004t0001g0025 others(1): Show |
14 | 406 | 0.0345 | 0 | c.569 others(3): Show |
p.Tyr others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 2/3 | 656/1465 | 569/1266 | 190/421 | chr14 | TogoVar | |||
ACOT4_chr14_73586873_73600766 | 73595619 | G | C | missense_variant | MODERATE | NA19088.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0013 | 1 | 406 | 0.0025 | 0 | c.123 others(4): Show |
p.Gly others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 3/3 | 1318/1465 | 1231/1266 | 411/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73612635 | G | A | missense_variant | MODERATE | NA20129.hp2 | a0013 | a0013c0009 | a0013c0009t0001 | a0013c0009t0001g0023 | 1 | 392 | 0.0026 | 0 | c.64G others(2): Show |
p.Ala others(5): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/3 | 119/1370 | 64/1266 | 22/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73612689 | G | A | missense_variant | MODERATE | HG02258.hp1 HG03139.hp2 HG03579.hp1 |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0026 a0007c0007t0001g0035 |
3 | 392 | 0.0077 | 0 | c.118 others(3): Show |
p.Asp others(5): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/3 | 173/1370 | 118/1266 | 40/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73612782 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(288): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0002c0012others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(61): Show |
291 | 391 | 0.7442 | 0 | c.211 others(3): Show |
p.Ser others(5): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/3 | 266/1370 | 211/1266 | 71/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73612782 | A | G | missense_variant | MODERATE | HG00738.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0082 | 1 | 101 | 0.0099 | 0 | c.211 others(3): Show |
p.Ser others(5): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/3 | 266/1370 | 211/1266 | 71/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73612827 | C | A | missense_variant | MODERATE | NA18957.hp2 | a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0007 | 1 | 392 | 0.0026 | 0 | c.256 others(3): Show |
p.Pro others(5): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/3 | 311/1370 | 256/1266 | 86/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73613025 | C | T | missense_variant | MODERATE | HG01433.hp1 HG02129.hp2 HG02602.hp1 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0009 a0006c0006t0001g0019 |
4 | 392 | 0.0102 | 0 | c.454 others(3): Show |
p.Pro others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/3 | 509/1370 | 454/1266 | 152/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73617122 | C | T | missense_variant | MODERATE | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(11): Show |
a0004a0007 | a0004c0004a0007c0007 | a0004c0004t0001a0007c0007t0001 | a0004c0004t0001g0021 a0004c0004t0001g0025 a0004c0004t0001g0040 others(7): Show |
14 | 392 | 0.0357 | 0 | c.590 others(3): Show |
p.Pro others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 2/3 | 645/1370 | 590/1266 | 197/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73617142 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(202): Show |
a0001a0008a0009others(2): Show | a0001c0001a0008c0008a0009c0014others(2): Show | a0001c0001t0001a0008c0008t0001a0009c0014t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(30): Show |
205 | 392 | 0.5230 | 0 | c.610 others(3): Show |
p.His others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 2/3 | 665/1370 | 610/1266 | 204/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73617164 | C | T | missense_variant | MODERATE | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(11): Show |
a0004a0007 | a0004c0004a0007c0007 | a0004c0004t0001a0007c0007t0001 | a0004c0004t0001g0021 a0004c0004t0001g0025 a0004c0004t0001g0040 others(7): Show |
14 | 392 | 0.0357 | 0 | c.632 others(3): Show |
p.Ala others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 2/3 | 687/1370 | 632/1266 | 211/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73619423 | A | G | missense_variant | MODERATE | HG02647.hp2 HG03041.hp1 HG03130.hp1 others(2): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0006 | 5 | 392 | 0.0128 | 0 | c.850 others(3): Show |
p.Ile others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 3/3 | 905/1370 | 850/1266 | 284/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73619495 | C | T | missense_variant | MODERATE | NA18964.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0001 | 1 | 392 | 0.0026 | 0 | c.922 others(3): Show |
p.Leu others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 3/3 | 977/1370 | 922/1266 | 308/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73619663 | C | T | missense_variant | MODERATE | HG02886.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0001 | 1 | 392 | 0.0026 | 0 | c.109 others(4): Show |
p.Pro others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 3/3 | 1145/1370 | 1090/1266 | 364/421 | chr14 | TogoVar | |||
ACOT6_chr14_73607517_73624888 | 73619711 | G | A | missense_variant | MODERATE | HG03239.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0009 | 1 | 392 | 0.0026 | 0 | c.113 others(4): Show |
p.Glu others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 3/3 | 1193/1370 | 1138/1266 | 380/421 | chr14 | TogoVar | |||
ACOT7_chr1_6259272_6398767 | 6264614 | C | A | missense_variant | MODERATE | HG01891.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0152 | 1 | 238 | 0.0042 | 0 | c.109 others(4): Show |
p.Ala others(6): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 9/9 | 1464/1806 | 1096/1113 | 366/370 | chr1 | TogoVar | |||
ACOT8_chr20_45836721_45862392 | 45841874 | G | C | missense_variant | MODERATE | HG03540.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0085 | 1 | 420 | 0.0024 | 0 | c.924 others(3): Show |
p.Ile others(6): Show |
ACOT8 | ENSG00000101473.17 | transcript | ENST00000217455.9 | protein_coding | 6/6 | 1001/1154 | 924/960 | 308/319 | chr20 | TogoVar | |||
ACOT8_chr20_45836721_45862392 | 45848669 | G | A | missense_variant | MODERATE | HG02451.hp2 HG02486.hp2 HG06807.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028 | 3 | 420 | 0.0071 | 0 | c.269 others(3): Show |
p.Pro others(5): Show |
ACOT8 | ENSG00000101473.17 | transcript | ENST00000217455.9 | protein_coding | 3/6 | 346/1154 | 269/960 | 90/319 | chr20 | TogoVar | |||
ACOT8_chr20_45836721_45862392 | 45855198 | C | T | missense_variant | MODERATE | NA19058.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0120 | 1 | 420 | 0.0024 | 0 | c.223 others(3): Show |
p.Val others(5): Show |
ACOT8 | ENSG00000101473.17 | transcript | ENST00000217455.9 | protein_coding | 2/6 | 300/1154 | 223/960 | 75/319 | chr20 | TogoVar | |||
ACOT8_chr20_45836721_45862392 | 45855270 | C | T | missense_variant | MODERATE | HG02559.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0079 | 1 | 420 | 0.0024 | 0 | c.151 others(3): Show |
p.Ala others(5): Show |
ACOT8 | ENSG00000101473.17 | transcript | ENST00000217455.9 | protein_coding | 2/6 | 228/1154 | 151/960 | 51/319 | chr20 | TogoVar | |||
ACOT8_chr20_45836721_45862392 | 45857266 | C | T | missense_variant | MODERATE | HG01069.hp1 NA19030.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0035 | 2 | 420 | 0.0048 | 0 | c.50G others(2): Show |
p.Gly others(5): Show |
ACOT8 | ENSG00000101473.17 | transcript | ENST00000217455.9 | protein_coding | 1/6 | 127/1154 | 50/960 | 17/319 | chr20 | TogoVar | |||
ACOT9_chrX_23696055_23748276 | 23705594 | C | G | missense_variant others(1): Show |
MODERATE | HG00733.hp2 HG00738.hp1 HG02622.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0039 | a0002c0003t0001g0012 a0002c0003t0001g0290 a0002c0003t0039g0291 |
4 | 307 | 0.0130 | 0 | c.934 others(3): Show |
p.Glu others(6): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 13/16 | 1066/4318 | 934/1347 | 312/448 | chrX | TogoVar | |||
ACOT9_chrX_23696055_23748276 | 23730855 | T | C | missense_variant | MODERATE | HG02293.hp2 NA18522.hp1 |
a0003 | a0003c0004 | a0003c0004t0014a0003c0004t0044 | a0003c0004t0014g0026 a0003c0004t0044g0219 |
2 | 307 | 0.0065 | 0 | c.323 others(3): Show |
p.Glu others(6): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 5/16 | 455/4318 | 323/1347 | 108/448 | chrX | TogoVar | |||
ACOT9_chrX_23696055_23748276 | 23735999 | T | C | missense_variant | MODERATE | HG02683.hp1 | a0004 | a0004c0007 | a0004c0007t0007 | a0004c0007t0007g0189 | 1 | 307 | 0.0033 | 0 | c.38A others(2): Show |
p.Lys others(5): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 2/16 | 170/4318 | 38/1347 | 13/448 | chrX | TogoVar | |||
ACOX1_chr17_75936507_75984166 | 75948415 | G | A | missense_variant | MODERATE | HG01884.hp1 HG01891.hp1 HG01934.hp1 others(7): Show |
a0003 | a0003c0005a0003c0006 | a0003c0005t0017a0003c0005t0025a0003c0005t0053others(2): Show | a0003c0005t0017g0044 a0003c0005t0017g0049 a0003c0005t0017g0050 others(7): Show |
10 | 342 | 0.0292 | 0 | c.177 others(4): Show |
p.Arg others(6): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 13/14 | 1864/7317 | 1771/1983 | 591/660 | chr17 | TogoVar | |||
ACOX1_chr17_75936507_75984166 | 75948434 | C | A | missense_variant | MODERATE | HG01258.hp1 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0295 | 1 | 342 | 0.0029 | 0 | c.175 others(4): Show |
p.Gln others(6): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 13/14 | 1845/7317 | 1752/1983 | 584/660 | chr17 | TogoVar | |||
ACOX1_chr17_75936507_75984166 | 75949559 | A | G | missense_variant | MODERATE | HG02886.hp1 | a0007 | a0007c0012 | a0007c0012t0036 | a0007c0012t0036g0042 | 1 | 342 | 0.0029 | 0 | c.152 others(4): Show |
p.Ile others(6): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 11/14 | 1613/7317 | 1520/1983 | 507/660 | chr17 | TogoVar | |||
ACOX1_chr17_75936507_75984166 | 75949776 | T | C | missense_variant | MODERATE | NA18978.hp1 | a0009 | a0009c0013 | a0009c0013t0003 | a0009c0013t0003g0113 | 1 | 342 | 0.0029 | 0 | c.142 others(4): Show |
p.Met others(6): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 10/14 | 1513/7317 | 1420/1983 | 474/660 | chr17 | TogoVar | |||
ACOX1_chr17_75936507_75984166 | 75949778 | G | A | missense_variant | MODERATE | HG01109.hp2 | a0005 | a0005c0014 | a0005c0014t0005 | a0005c0014t0005g0036 | 1 | 342 | 0.0029 | 0 | c.141 others(4): Show |
p.Thr others(6): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 10/14 | 1511/7317 | 1418/1983 | 473/660 | chr17 | TogoVar | |||
ACOX1_chr17_75936507_75984166 | 75950834 | T | C | missense_variant | MODERATE | HG00621.hp2 | a0004 | a0004c0016 | a0004c0016t0001 | a0004c0016t0001g0233 | 1 | 342 | 0.0029 | 0 | c.123 others(4): Show |
p.Asn others(6): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 9/14 | 1331/7317 | 1238/1983 | 413/660 | chr17 | TogoVar | |||
ACOX1_chr17_75936507_75984166 | 75953459 | G | C | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(153): Show |
a0002a0004a0006 | a0002c0002a0002c0007a0002c0011others(3): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0006others(24): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0005 others(144): Show |
156 | 342 | 0.4561 | 0 | c.936 others(3): Show |
p.Ile others(6): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 7/14 | 1029/7317 | 936/1983 | 312/660 | chr17 | TogoVar | |||
ACOX1_chr17_75936507_75984166 | 75979001 | C | T | missense_variant | MODERATE | NA18947.hp2 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0010 | 1 | 342 | 0.0029 | 0 | c.73G others(2): Show |
p.Gly others(5): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 1/14 | 166/7317 | 73/1983 | 25/660 | chr17 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58508981 | T | C | missense_variant | MODERATE | HG04199.hp2 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0127 | 1 | 362 | 0.0028 | 0 | c.189 others(4): Show |
p.Gln others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 14/15 | 2058/2297 | 1895/2046 | 632/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58517216 | G | A | missense_variant | MODERATE | HG02015.hp2 HG02027.hp2 NA19087.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0174 a0002c0007t0001g0175 a0002c0007t0001g0176 |
3 | 362 | 0.0083 | 0 | c.184 others(4): Show |
p.Arg others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/15 | 2003/2297 | 1840/2046 | 614/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58522546 | G | C | missense_variant | MODERATE | HG01175.hp2 | a0004 | a0004c0018 | a0004c0018t0001 | a0004c0018t0001g0207 | 1 | 362 | 0.0028 | 0 | c.158 others(4): Show |
p.Gln others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 12/15 | 1745/2297 | 1582/2046 | 528/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58524592 | T | C | missense_variant | MODERATE | HG02451.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0051 | 1 | 362 | 0.0028 | 0 | c.136 others(4): Show |
p.Ser others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 11/15 | 1523/2297 | 1360/2046 | 454/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58526596 | C | G | missense_variant | MODERATE | HG03139.hp2 | a0006 | a0006c0014 | a0006c0014t0002 | a0006c0014t0002g0256 | 1 | 362 | 0.0028 | 0 | c.121 others(4): Show |
p.Glu others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 10/15 | 1379/2297 | 1216/2046 | 406/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58530512 | C | T | missense_variant | MODERATE | HG03195.hp1 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0231 | 1 | 362 | 0.0028 | 0 | c.946 others(3): Show |
p.Ala others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 8/15 | 1109/2297 | 946/2046 | 316/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531357 | A | G | missense_variant | MODERATE | HG02559.hp2 HG06807.hp2 NA19002.hp2 |
a0003 | a0003c0010a0003c0012 | a0003c0010t0001a0003c0012t0001 | a0003c0010t0001g0040 a0003c0012t0001g0109 |
3 | 362 | 0.0083 | 0 | c.713 others(3): Show |
p.Ile others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 7/15 | 876/2297 | 713/2046 | 238/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531767 | C | G | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.629 others(3): Show |
p.Cys others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 792/2297 | 629/2046 | 210/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531770 | A | C | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.626 others(3): Show |
p.Ile others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 789/2297 | 626/2046 | 209/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531771 | T | C | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.625 others(3): Show |
p.Ile others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 788/2297 | 625/2046 | 209/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531773 | A | G | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.623 others(3): Show |
p.Leu others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 786/2297 | 623/2046 | 208/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531776 | T | G | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.620 others(3): Show |
p.Gln others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 783/2297 | 620/2046 | 207/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531781 | C | A | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.615 others(3): Show |
p.Gln others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 778/2297 | 615/2046 | 205/681 | chr3 | TogoVar | |||
ACOX2_chr3_58500136_58542190 | 58531782 | T | A | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0234 | 1 | 362 | 0.0028 | 0 | c.614 others(3): Show |
p.Gln others(6): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 777/2297 | 614/2046 | 205/681 | chr3 | TogoVar |