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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTL6A_chr3_179557926_179593407 | 179588781 | CAG | C | downstream_gene_variant | MODIFIER | HG02135.hp2 HG02523.hp2 NA18941.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0040others(2): Show | 12 | 380 | 0.0316 | -2 | c.*77 others(11): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 375 | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179589272 | CAT | C | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02615.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0136a0001c0001t0001g0137 | 3 | 380 | 0.0079 | -2 | c.*12 others(13): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 866 | chr3 | TogoVar | ||||||
ACTL6B_chr7_100638097_100661448 | 100652999 | CAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01168.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0015others(24): Show | 47 | 360 | 0.1306 | -2 | c.369 others(19): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | ||||||
ACTL7A_chr9_108857266_108868756 | 108858833 | CAT | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00597.hp1 others(37): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0000a0004c0005t0001g0000 | 40 | 482 | 0.0830 | -2 | c.-34 others(13): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 3432 | chr9 | TogoVar | ||||||
ACTL7A_chr9_108857266_108868756 | 108858835 | TAC | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG02132.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000a0001c0001t0002g0000 | 7 | 482 | 0.0145 | -2 | c.-34 others(13): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 3430 | chr9 | TogoVar | ||||||
ACTL7A_chr9_108857266_108868756 | 108860806 | CTG | C | upstream_gene_variant | MODIFIER | HG02486.hp2 NA19240.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 482 | 0.0062 | -2 | c.-15 others(13): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 1459 | chr9 | TogoVar | ||||||
ACTL7A_chr9_108857266_108868756 | 108864803 | CTG | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00733.hp1 others(100): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0013t0001 | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0013t0001g0000 | 103 | 482 | 0.2137 | -2 | c.*11 others(13): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 1048 | chr9 | TogoVar | ||||||
ACTL7B_chr9_108849588_108860986 | 108858833 | CAT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(34): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0012 | a0001c0001t0001a0001c0003t0001a0007c0012t0001 | a0001c0001t0001g0000a0001c0003t0001g0000a0007c0012t0001g0000 | 37 | 470 | 0.0787 | -2 | c.-29 others(13): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 2848 | chr9 | TogoVar | ||||||
ACTL7B_chr9_108849588_108860986 | 108858835 | TAC | T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG02132.hp2 HG02523.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0000a0001c0004t0001g0000 | 6 | 470 | 0.0128 | -2 | c.-29 others(13): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 2850 | chr9 | TogoVar | ||||||
ACTL7B_chr9_108849588_108860986 | 108860806 | CTG | C | upstream_gene_variant | MODIFIER | HG02486.hp1 NA19240.hp1 NA20300.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 3 | 470 | 0.0064 | -2 | c.-48 others(13): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 4821 | chr9 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17750427 | CGT | C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001a0001c0005t0006 | a0001c0001t0001g0324a0001c0001t0001g0329a0001c0005t0001g0325others(2): Show | 5 | 366 | 0.0137 | -2 | c.-51 others(13): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 4905 | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17763284 | CCT | C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01109.hp1 others(52): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(10): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(52): Show | 55 | 366 | 0.1503 | -2 | c.-25 others(19): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17776969 | ATT | A | intron_variant | MODIFIER | HG00323.hp1 HG02486.hp2 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0001 | a0001c0001t0001g0101a0001c0001t0001g0178a0001c0001t0001g0180others(5): Show | 8 | 366 | 0.0219 | -2 | c.-25 others(21): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17783364 | TAA | T | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00642.hp2 others(61): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0045a0001c0001t0001g0156others(61): Show | 64 | 366 | 0.1749 | -2 | c.-25 others(21): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17787670 | ATT | A | intron_variant | MODIFIER | HG02559.hp2 HG03139.hp2 HG03516.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(1): Show | a0001c0001t0001g0234a0001c0001t0005g0327a0001c0003t0001g0110others(3): Show | 6 | 366 | 0.0164 | -2 | c.-25 others(21): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17802424 | CGT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00609.hp2 others(71): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0045a0001c0001t0001g0061a0001c0001t0001g0077others(70): Show | 74 | 366 | 0.2022 | -2 | c.-24 others(21): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL9_chr19_8692400_8703795 | 8694853 | AAG | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp2 others(64): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0000a0002c0002t0001g0000a0003c0003t0001g0000others(1): Show | 67 | 356 | 0.1882 | -2 | c.*25 others(13): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40738538 | TGA | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 3 | 426 | 0.0070 | -2 | c.*38 others(13): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2322 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40741441 | TAA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(225): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0019others(77): Show | 228 | 426 | 0.5352 | -2 | c.*99 others(11): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 6/6 | 990 | chr19 | TogoVar | |||||
ACTMAP_chr19_40735861_40755477 | 40752579 | CAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(213): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0019others(81): Show | 216 | 426 | 0.5070 | -2 | c.-27 others(13): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2103 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40753384 | GTT | G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(83): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0019others(40): Show | 86 | 426 | 0.2019 | -2 | c.-35 others(13): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2908 | chr19 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68895078 | AAC | A | intron_variant | MODIFIER | NA18747.hp2 NA18942.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0054a0001c0001t0002g0125 | 3 | 284 | 0.0106 | -2 | c.763 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68899038 | CAT | C | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01243.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0139a0001c0001t0001g0165a0001c0001t0001g0166others(20): Show | 23 | 284 | 0.0810 | -2 | c.762 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68899215 | CCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(50): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0151a0001c0001t0001g0195a0001c0001t0001g0216others(50): Show | 53 | 284 | 0.1866 | -2 | c.762 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68901249 | GTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01361.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0141others(30): Show | 33 | 284 | 0.1162 | -2 | c.762 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68910659 | CCT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(71): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161others(70): Show | 74 | 284 | 0.2606 | -2 | c.428 others(17): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 4/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68925318 | CTT | C | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01891.hp2 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0015 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0139a0001c0001t0001g0141a0001c0001t0001g0169others(10): Show | 13 | 284 | 0.0458 | -2 | c.220 others(17): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 2/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68932886 | CCT | C | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0152a0001c0001t0001g0185a0001c0001t0001g0262others(1): Show | 4 | 284 | 0.0141 | -2 | c.106 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68933980 | GAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0152a0001c0001t0001g0159a0001c0001t0001g0160others(69): Show | 73 | 284 | 0.2570 | -2 | c.106 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68935387 | ATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00738.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0141others(61): Show | 64 | 284 | 0.2254 | -2 | c.106 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68942202 | ACT | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161others(64): Show | 68 | 284 | 0.2394 | -2 | c.106 others(21): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236684110 | TTA | T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01433.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(4): Show | a0001c0001t0001g0224a0001c0001t0001g0260a0001c0001t0001g0281others(9): Show | 12 | 344 | 0.0349 | -2 | c.-25 others(13): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2388 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236685752 | CGA | C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02897.hp2 HG03098.hp1 |
a0001a0008 | a0001c0011a0008c0017 | a0001c0011t0004a0001c0011t0005a0008c0017t0024 | a0001c0011t0004g0101a0001c0011t0005g0100a0008c0017t0024g0099 | 3 | 344 | 0.0087 | -2 | c.-92 others(11): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 746 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236685840 | CGA | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01168.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0006a0001c0001t0015a0001c0003t0006others(6): Show | a0001c0001t0006g0135a0001c0001t0015g0116a0001c0003t0006g0124others(15): Show | 18 | 344 | 0.0523 | -2 | c.-83 others(11): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 658 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236689300 | GAT | G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG01109.hp1 others(14): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(6): Show | a0001c0001t0001g0230a0001c0001t0001g0236a0001c0001t0003g0234others(14): Show | 17 | 344 | 0.0494 | -2 | c.126 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236690935 | CTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp2 HG01496.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0258a0001c0001t0001g0259a0001c0001t0001g0260others(9): Show | 12 | 344 | 0.0349 | -2 | c.126 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236693177 | GCA | G | intron_variant | MODIFIER | HG02647.hp2 HG02683.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0225a0001c0001t0004g0117a0001c0001t0004g0119others(2): Show | 5 | 344 | 0.0145 | -2 | c.126 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236705522 | GGT | G | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp2 HG03688.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0003g0020a0001c0001t0004g0003a0001c0001t0004g0015others(6): Show | 9 | 344 | 0.0262 | -2 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236707709 | CTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00673.hp2 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0011a0001c0001t0001g0103a0001c0001t0001g0139others(67): Show | 70 | 344 | 0.2035 | -2 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709220 | GTA | G | intron_variant | MODIFIER | HG01106.hp2 HG02257.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0225a0001c0001t0004g0074a0001c0001t0004g0078others(5): Show | 8 | 344 | 0.0233 | -2 | c.127 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236712920 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01123.hp1 others(40): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0018a0001c0001t0001g0110a0001c0001t0001g0190others(40): Show | 43 | 344 | 0.1250 | -2 | c.127 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236715155 | CTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01433.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0006a0001c0003t0001a0001c0003t0002others(9): Show | a0001c0001t0006g0135a0001c0003t0001g0129a0001c0003t0001g0133others(22): Show | 25 | 344 | 0.0727 | -2 | c.127 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236721020 | TTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG02055.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0018a0001c0001t0001g0110a0001c0001t0001g0114others(6): Show | 9 | 344 | 0.0262 | -2 | c.448 others(17): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236724838 | CTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02698.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0184a0001c0001t0005g0055a0001c0001t0011g0090others(3): Show | 6 | 344 | 0.0174 | -2 | c.449 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236739232 | ATT | A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01106.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0041a0001c0001t0001g0139a0001c0001t0001g0141others(22): Show | 25 | 344 | 0.0727 | -2 | c.877 others(15): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236746165 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01109.hp2 others(53): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0018a0001c0001t0001g0275a0001c0001t0002g0156others(53): Show | 56 | 344 | 0.1628 | -2 | c.140 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236751089 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(95): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0018a0001c0001t0001g0141a0001c0001t0001g0184others(95): Show | 98 | 344 | 0.2849 | -2 | c.165 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236765120 | CAA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(19): Show | a0001c0001t0002g0156a0001c0001t0005g0151a0001c0001t0005g0181others(83): Show | 86 | 344 | 0.2500 | -2 | c.*25 others(13): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 490 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236768415 | GTT | G | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02683.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0005 | a0001c0001t0001g0316a0001c0001t0002g0156a0001c0004t0005g0056others(4): Show | 7 | 344 | 0.0204 | -2 | c.*57 others(13): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 3785 | chr1 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66547394 | AGG | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(43): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0003c0007others(2): Show | a0001c0001t0001a0003c0003t0002a0003c0007t0001others(2): Show | a0001c0001t0001g0186a0003c0003t0002g0002a0003c0003t0002g0014others(16): Show | 46 | 400 | 0.1150 | -2 | c.147 others(17): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |