regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTL7A_chr9_108857266_108868756 | 108863417 | G | A | synonymous_variant | LOW | HG02647.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0000 | 1 | 482 | 0.0021 | 0 | c.109 others(4): Show |
p.Thr others(6): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 1/1 | 1152/1491 | 1095/1308 | 365/435 | chr9 | TogoVar | ||
ACTL7B_chr9_108849588_108860986 | 108855061 | A | G | synonymous_variant | LOW | HG00280.hp1 HG00423.hp2 HG00438.hp2 others(59): Show |
a0001a0007 | a0001c0003a0001c0006a0007c0012 | a0001c0003t0001a0001c0006t0001a0007c0012t0001 | a0001c0003t0001g0000a0001c0006t0001g0000a0007c0012t0001g0000 | 62 | 470 | 0.1319 | 0 | c.870 others(3): Show |
p.Thr others(6): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 1/1 | 926/1399 | 870/1248 | 290/415 | chr9 | TogoVar | ||
ACTL7B_chr9_108849588_108860986 | 108855109 | C | T | synonymous_variant | LOW | HG01074.hp2 HG02572.hp2 HG03130.hp1 others(7): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0000 | 10 | 470 | 0.0213 | 0 | c.822 others(3): Show |
p.Pro others(6): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 1/1 | 878/1399 | 822/1248 | 274/415 | chr9 | TogoVar | ||
ACTL7B_chr9_108849588_108860986 | 108855133 | G | C | synonymous_variant | LOW | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0000 | 2 | 470 | 0.0043 | 0 | c.798 others(3): Show |
p.Pro others(6): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 1/1 | 854/1399 | 798/1248 | 266/415 | chr9 | TogoVar | ||
ACTL7B_chr9_108849588_108860986 | 108855142 | G | T | synonymous_variant | LOW | HG01993.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0000 | 1 | 470 | 0.0021 | 0 | c.789 others(3): Show |
p.Ala others(6): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 1/1 | 845/1399 | 789/1248 | 263/415 | chr9 | TogoVar | ||
ACTL7B_chr9_108849588_108860986 | 108855370 | G | A | synonymous_variant | LOW | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(93): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0000a0002c0005t0001g0000 | 96 | 470 | 0.2043 | 0 | c.561 others(3): Show |
p.Tyr others(6): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 1/1 | 617/1399 | 561/1248 | 187/415 | chr9 | TogoVar | ||
ACTL7B_chr9_108849588_108860986 | 108855439 | C | A | synonymous_variant | LOW | HG01261.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0000 | 1 | 470 | 0.0021 | 0 | c.492 others(3): Show |
p.Ala others(6): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 1/1 | 548/1399 | 492/1248 | 164/415 | chr9 | TogoVar | ||
ACTL7B_chr9_108849588_108860986 | 108855826 | C | T | synonymous_variant | LOW | HG01243.hp2 HG02055.hp1 HG02257.hp1 others(17): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 20 | 470 | 0.0426 | 0 | c.105 others(3): Show |
p.Ala others(5): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 1/1 | 161/1399 | 105/1248 | 35/415 | chr9 | TogoVar | ||
ACTL7B_chr9_108849588_108860986 | 108855850 | G | A | synonymous_variant | LOW | NA19067.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0000 | 1 | 470 | 0.0021 | 0 | c.81C others(2): Show |
p.Asp others(5): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 1/1 | 137/1399 | 81/1248 | 27/415 | chr9 | TogoVar | ||
ACTL7B_chr9_108849588_108860986 | 108855883 | G | A | synonymous_variant | LOW | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(94): Show |
a0001a0002 | a0001c0002a0002c0005a0002c0009 | a0001c0002t0001a0002c0005t0001a0002c0009t0001 | a0001c0002t0001g0000a0002c0005t0001g0000a0002c0009t0001g0000 | 97 | 470 | 0.2064 | 0 | c.48C others(2): Show |
p.Asp others(5): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 1/1 | 104/1399 | 48/1248 | 16/415 | chr9 | TogoVar | ||
ACTL8_chr1_17750333_17832063 | 17823068 | C | T | synonymous_variant | LOW | NA19079.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0228 | 1 | 366 | 0.0027 | 0 | c.60C others(2): Show |
p.Ala others(5): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 2/3 | 256/1841 | 60/1101 | 20/366 | chr1 | TogoVar | ||
ACTL8_chr1_17750333_17832063 | 17823071 | C | A | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(185): Show |
a0001a0002a0005 | a0001c0003a0001c0006a0001c0008others(6): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(14): Show | a0001c0003t0001g0012a0001c0003t0001g0014a0001c0003t0001g0015others(183): Show | 188 | 366 | 0.5137 | 0 | c.63C others(2): Show |
p.Gly others(5): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 2/3 | 259/1841 | 63/1101 | 21/366 | chr1 | TogoVar | ||
ACTL8_chr1_17750333_17832063 | 17823098 | G | A | synonymous_variant | LOW | NA18950.hp1 NA18992.hp2 NA19056.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0086a0001c0010t0001g0168a0001c0010t0001g0302 | 3 | 366 | 0.0082 | 0 | c.90G others(2): Show |
p.Pro others(5): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 2/3 | 286/1841 | 90/1101 | 30/366 | chr1 | TogoVar | ||
ACTL8_chr1_17750333_17832063 | 17826087 | C | T | synonymous_variant | LOW | HG00323.hp1 HG00408.hp2 HG00558.hp2 others(47): Show |
a0001a0002 | a0001c0006a0001c0009a0002c0004 | a0001c0006t0001a0001c0009t0001a0002c0004t0001others(1): Show | a0001c0006t0001g0128a0001c0006t0001g0140a0001c0006t0001g0204others(46): Show | 50 | 366 | 0.1366 | 0 | c.669 others(3): Show |
p.Asp others(6): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 3/3 | 865/1841 | 669/1101 | 223/366 | chr1 | TogoVar | ||
ACTL8_chr1_17750333_17832063 | 17826276 | C | G | synonymous_variant | LOW | HG02056.hp2 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0295 | 1 | 366 | 0.0027 | 0 | c.858 others(3): Show |
p.Ser others(6): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 3/3 | 1054/1841 | 858/1101 | 286/366 | chr1 | TogoVar | ||
ACTL8_chr1_17750333_17832063 | 17826444 | C | T | synonymous_variant | LOW | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(18): Show |
a0001a0002 | a0001c0005a0001c0008a0002c0017 | a0001c0005t0001a0001c0005t0003a0001c0005t0006others(2): Show | a0001c0005t0001g0040a0001c0005t0001g0104a0001c0005t0001g0176others(18): Show | 21 | 366 | 0.0574 | 0 | c.102 others(4): Show |
p.Ser others(6): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 3/3 | 1222/1841 | 1026/1101 | 342/366 | chr1 | TogoVar | ||
ACTL9_chr19_8692400_8703795 | 8697655 | G | A | synonymous_variant | LOW | HG00741.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0000 | 1 | 356 | 0.0028 | 0 | c.104 others(4): Show |
p.Gly others(6): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 1141/1396 | 1047/1251 | 349/416 | chr19 | TogoVar | ||
ACTL9_chr19_8692400_8703795 | 8697751 | G | A | synonymous_variant | LOW | NA18970.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0000 | 1 | 356 | 0.0028 | 0 | c.951 others(3): Show |
p.Thr others(6): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 1045/1396 | 951/1251 | 317/416 | chr19 | TogoVar | ||
ACTL9_chr19_8692400_8703795 | 8698051 | G | A | synonymous_variant | LOW | NA18939.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0000 | 1 | 356 | 0.0028 | 0 | c.651 others(3): Show |
p.Ala others(6): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 745/1396 | 651/1251 | 217/416 | chr19 | TogoVar | ||
ACTL9_chr19_8692400_8703795 | 8698108 | C | T | synonymous_variant | LOW | HG01243.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0000 | 1 | 356 | 0.0028 | 0 | c.594 others(3): Show |
p.Thr others(6): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 688/1396 | 594/1251 | 198/416 | chr19 | TogoVar | ||
ACTL9_chr19_8692400_8703795 | 8698162 | C | T | synonymous_variant | LOW | HG00558.hp1 HG02027.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 2 | 356 | 0.0056 | 0 | c.540 others(3): Show |
p.Gln others(6): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 634/1396 | 540/1251 | 180/416 | chr19 | TogoVar | ||
ACTL9_chr19_8692400_8703795 | 8698237 | C | G | synonymous_variant | LOW | NA19078.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0000 | 1 | 356 | 0.0028 | 0 | c.465 others(3): Show |
p.Pro others(6): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 559/1396 | 465/1251 | 155/416 | chr19 | TogoVar | ||
ACTL9_chr19_8692400_8703795 | 8698444 | G | A | synonymous_variant | LOW | HG02723.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0000 | 1 | 356 | 0.0028 | 0 | c.258 others(3): Show |
p.Pro others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 352/1396 | 258/1251 | 86/416 | chr19 | TogoVar | ||
ACTL9_chr19_8692400_8703795 | 8698669 | G | A | synonymous_variant | LOW | HG01069.hp1 HG01099.hp1 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0000 | 2 | 356 | 0.0056 | 0 | c.33C others(2): Show |
p.Ser others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 127/1396 | 33/1251 | 11/416 | chr19 | TogoVar | ||
ACTMAP_chr19_40735861_40755477 | 40742627 | G | A | synonymous_variant | LOW | HG00639.hp2 HG01175.hp1 HG01496.hp2 others(11): Show |
a0001a0003 | a0001c0004a0001c0006a0003c0008 | a0001c0004t0012a0001c0004t0016a0001c0004t0017others(4): Show | a0001c0004t0012g0017a0001c0004t0012g0057a0001c0004t0012g0058others(7): Show | 14 | 426 | 0.0329 | 0 | c.862 others(3): Show |
p.Leu others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 6/6 | 1536/3302 | 862/1056 | 288/351 | chr19 | TogoVar | ||
ACTMAP_chr19_40735861_40755477 | 40742709 | C | T | synonymous_variant | LOW | HG02258.hp1 | a0001 | a0001c0009 | a0001c0009t0042 | a0001c0009t0042g0123 | 1 | 426 | 0.0024 | 0 | c.780 others(3): Show |
p.Pro others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 6/6 | 1454/3302 | 780/1056 | 260/351 | chr19 | TogoVar | ||
ACTMAP_chr19_40735861_40755477 | 40743948 | C | T | synonymous_variant | LOW | NA18941.hp2 NA18945.hp2 NA18946.hp2 others(7): Show |
a0002 | a0002c0005 | a0002c0005t0002a0002c0005t0040 | a0002c0005t0002g0011a0002c0005t0002g0131a0002c0005t0002g0137others(1): Show | 10 | 426 | 0.0235 | 0 | c.675 others(3): Show |
p.Pro others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 5/6 | 1349/3302 | 675/1056 | 225/351 | chr19 | TogoVar | ||
ACTMAP_chr19_40735861_40755477 | 40744581 | C | G | synonymous_variant | LOW | HG00639.hp2 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0064 | 1 | 426 | 0.0024 | 0 | c.495 others(3): Show |
p.Thr others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 3/6 | 1169/3302 | 495/1056 | 165/351 | chr19 | TogoVar | ||
ACTMAP_chr19_40735861_40755477 | 40749564 | G | A | synonymous_variant | LOW | NA21309.hp2 | a0001 | a0001c0011 | a0001c0011t0016 | a0001c0011t0016g0067 | 1 | 426 | 0.0024 | 0 | c.240 others(3): Show |
p.Leu others(5): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/6 | 914/3302 | 240/1056 | 80/351 | chr19 | TogoVar | ||
ACTMAP_chr19_40735861_40755477 | 40749698 | G | A | synonymous_variant | LOW | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(70): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0010a0001c0003t0019others(4): Show | a0001c0003t0003g0003a0001c0003t0003g0008a0001c0003t0003g0027others(17): Show | 73 | 426 | 0.1714 | 0 | c.106 others(3): Show |
p.Leu others(5): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/6 | 780/3302 | 106/1056 | 36/351 | chr19 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68880076 | G | A | synonymous_variant | LOW | HG01934.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0273 | 1 | 284 | 0.0035 | 0 | c.216 others(4): Show |
p.Thr others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 18/22 | 2412/3722 | 2166/2745 | 722/914 | chr14 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68880915 | C | T | synonymous_variant | LOW | HG01069.hp1 HG02602.hp2 HG03927.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004 | a0001c0004t0001g0145a0001c0004t0001g0252a0001c0004t0004g0110 | 3 | 284 | 0.0106 | 0 | c.202 others(4): Show |
p.Lys others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 17/22 | 2274/3722 | 2028/2745 | 676/914 | chr14 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68882479 | G | A | synonymous_variant | LOW | HG02486.hp2 HG02922.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007 | a0001c0003t0001g0184a0001c0003t0001g0225a0001c0003t0001g0238others(2): Show | 5 | 284 | 0.0176 | 0 | c.193 others(4): Show |
p.Pro others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/22 | 2178/3722 | 1932/2745 | 644/914 | chr14 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68884859 | G | A | synonymous_variant | LOW | HG01081.hp1 HG02145.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0005a0001c0019 | a0001c0005t0001a0001c0005t0002a0001c0019t0001 | a0001c0005t0001g0199a0001c0005t0001g0200a0001c0005t0002g0123others(1): Show | 4 | 284 | 0.0141 | 0 | c.141 others(4): Show |
p.Pro others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 13/22 | 1656/3722 | 1410/2745 | 470/914 | chr14 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68885454 | C | T | synonymous_variant | LOW | HG02257.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0183 | 1 | 284 | 0.0035 | 0 | c.135 others(4): Show |
p.Glu others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 12/22 | 1602/3722 | 1356/2745 | 452/914 | chr14 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68885513 | G | A | synonymous_variant | LOW | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(69): Show |
a0001a0002a0004 | a0001c0002a0001c0012a0001c0017others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(5): Show | a0001c0002t0002g0088a0001c0002t0002g0122a0001c0002t0003g0129others(69): Show | 72 | 284 | 0.2535 | 0 | c.129 others(4): Show |
p.Leu others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 12/22 | 1543/3722 | 1297/2745 | 433/914 | chr14 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68890140 | G | A | splice_region_variant others(1): Show |
LOW | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0181a0001c0009t0001g0264 | 2 | 284 | 0.0070 | 0 | c.123 others(4): Show |
p.Asp others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/22 | 1479/3722 | 1233/2745 | 411/914 | chr14 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68890215 | G | T | synonymous_variant | LOW | HG04115.hp1 | a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0146 | 1 | 284 | 0.0035 | 0 | c.115 others(4): Show |
p.Ile others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/22 | 1404/3722 | 1158/2745 | 386/914 | chr14 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68892119 | C | T | synonymous_variant | LOW | HG00738.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0179 | 1 | 284 | 0.0035 | 0 | c.102 others(4): Show |
p.Thr others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 10/22 | 1266/3722 | 1020/2745 | 340/914 | chr14 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68892146 | C | T | synonymous_variant | LOW | HG02630.hp2 NA19240.hp2 |
a0001 | a0001c0018a0001c0019 | a0001c0018t0001a0001c0019t0001 | a0001c0018t0001g0259a0001c0019t0001g0260 | 2 | 284 | 0.0070 | 0 | c.993 others(3): Show |
p.Lys others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 10/22 | 1239/3722 | 993/2745 | 331/914 | chr14 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68892209 | T | C | synonymous_variant | LOW | HG00408.hp1 | a0001 | a0001c0017 | a0001c0017t0004 | a0001c0017t0004g0044 | 1 | 284 | 0.0035 | 0 | c.930 others(3): Show |
p.Gln others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 10/22 | 1176/3722 | 930/2745 | 310/914 | chr14 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68893667 | C | T | synonymous_variant | LOW | HG03017.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0060 | 1 | 284 | 0.0035 | 0 | c.843 others(3): Show |
p.Lys others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 9/22 | 1089/3722 | 843/2745 | 281/914 | chr14 | TogoVar | ||
ACTN1_chr14_68869128_68984302 | 68904659 | G | A | synonymous_variant | LOW | HG02630.hp2 NA19240.hp2 |
a0001 | a0001c0018a0001c0019 | a0001c0018t0001a0001c0019t0001 | a0001c0018t0001g0259a0001c0019t0001g0260 | 2 | 284 | 0.0070 | 0 | c.672 others(3): Show |
p.Ala others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 7/22 | 918/3722 | 672/2745 | 224/914 | chr14 | TogoVar | ||
ACTN2_chr1_236681499_236769631 | 236686691 | C | A | synonymous_variant | LOW | HG03492.hp1 | a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0108 | 1 | 344 | 0.0029 | 0 | c.18C others(2): Show |
p.Pro others(4): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/21 | 193/4872 | 18/2685 | 6/894 | chr1 | TogoVar | ||
ACTN2_chr1_236681499_236769631 | 236717902 | C | T | synonymous_variant | LOW | NA19063.hp2 | a0005 | a0005c0033 | a0005c0033t0003 | a0005c0033t0003g0169 | 1 | 344 | 0.0029 | 0 | c.171 others(3): Show |
p.Thr others(5): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 346/4872 | 171/2685 | 57/894 | chr1 | TogoVar | ||
ACTN2_chr1_236681499_236769631 | 236717917 | C | T | synonymous_variant | LOW | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0015 | a0001c0015t0016 | a0001c0015t0016g0113a0001c0015t0016g0115 | 2 | 344 | 0.0058 | 0 | c.186 others(3): Show |
p.Ile others(5): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 361/4872 | 186/2685 | 62/894 | chr1 | TogoVar | ||
ACTN2_chr1_236681499_236769631 | 236717941 | T | A | synonymous_variant | LOW | NA19063.hp2 | a0005 | a0005c0033 | a0005c0033t0003 | a0005c0033t0003g0169 | 1 | 344 | 0.0029 | 0 | c.210 others(3): Show |
p.Leu others(5): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 385/4872 | 210/2685 | 70/894 | chr1 | TogoVar | ||
ACTN2_chr1_236681499_236769631 | 236717947 | C | A | synonymous_variant | LOW | NA19063.hp2 | a0005 | a0005c0033 | a0005c0033t0003 | a0005c0033t0003g0169 | 1 | 344 | 0.0029 | 0 | c.216 others(3): Show |
p.Leu others(5): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 391/4872 | 216/2685 | 72/894 | chr1 | TogoVar | ||
ACTN2_chr1_236681499_236769631 | 236719003 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(335): Show | 338 | 344 | 0.9826 | 0 | c.351 others(3): Show |
p.Ile others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 3/21 | 526/4872 | 351/2685 | 117/894 | chr1 | TogoVar | ||
ACTN2_chr1_236681499_236769631 | 236720121 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(303): Show | 306 | 344 | 0.8895 | 0 | c.378 others(3): Show |
p.Asn others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/21 | 553/4872 | 378/2685 | 126/894 | chr1 | TogoVar |