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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTC1_chr15_34785230_34800549 | 34793356 | T | TG | frameshift_variant | HIGH | NA18974.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0104 | 1 | 496 | 0.0020 | 1 | c.342 others(4): Show |
p.Lys others(5): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 3/7 | 408/1382 | 342/1134 | 114/377 | chr15 | TogoVar | |||
ACTC1_chr15_34785230_34800549 | 34794656 | C | CG | intron_variant | MODIFIER | HG01358.hp1 HG01884.hp2 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0079 a0001c0001t0001g0105 others(4): Show |
12 | 496 | 0.0242 | 1 | c.129 others(7): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34794745 | C | CG | frameshift_variant | HIGH | NA18974.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0104 | 1 | 496 | 0.0020 | 1 | c.63d others(3): Show |
p.Gly others(4): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 2/7 | 129/1382 | 63/1134 | 21/377 | chr15 | TogoVar | |||
ACTC1_chr15_34785230_34800549 | 34795351 | T | TA | intron_variant | MODIFIER | HG00558.hp1 HG00733.hp1 HG01070.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0031 others(25): Show |
52 | 496 | 0.1048 | 1 | c.-23 others(8): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34798742 | C | CA | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(9): Show |
14 | 496 | 0.0282 | 1 | c.-32 others(12): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 3194 | chr15 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34799787 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(404): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(103): Show |
407 | 496 | 0.8206 | 1 | c.-43 others(12): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 4239 | chr15 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34800230 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(105): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(33): Show |
108 | 496 | 0.2177 | 1 | c.-47 others(12): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 4682 | chr15 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81505167 | C | CA | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02040.hp2 HG02738.hp1 others(5): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0005a0001c0005t0024 | a0001c0003t0001g0002 a0001c0005t0005g0009 a0001c0005t0005g0058 others(1): Show |
8 | 370 | 0.0216 | 1 | c.*55 others(12): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 4803 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81505369 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(45): Show |
a0001 | a0001c0002a0001c0003a0001c0015 | a0001c0002t0006a0001c0003t0001a0001c0003t0016others(1): Show | a0001c0002t0006g0011 a0001c0003t0001g0002 a0001c0003t0001g0032 others(2): Show |
48 | 370 | 0.1297 | 1 | c.*53 others(12): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 4601 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81505794 | A | AT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01106.hp2 HG01243.hp1 others(8): Show |
a0001 | a0001c0002a0001c0004a0001c0012others(2): Show | a0001c0002t0002a0001c0002t0006a0001c0004t0003others(4): Show | a0001c0002t0002g0003 a0001c0002t0002g0064 a0001c0002t0006g0011 others(5): Show |
11 | 370 | 0.0297 | 1 | c.*48 others(12): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 4176 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81506793 | C | CA | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0010a0001c0007t0029 | a0001c0007t0010g0021 a0001c0007t0029g0065 |
4 | 370 | 0.0108 | 1 | c.*38 others(12): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 3177 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81507390 | G | GT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(20): Show |
89 | 370 | 0.2405 | 1 | c.*32 others(12): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 2580 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81507712 | C | CT | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02040.hp2 HG02486.hp1 others(7): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0005a0001c0005t0024 | a0001c0002t0002g0003 a0001c0002t0002g0020 a0001c0005t0005g0009 others(2): Show |
10 | 370 | 0.0270 | 1 | c.*29 others(12): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 2258 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81507968 | T | TG | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02040.hp2 HG02258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0027a0001c0005t0005a0001c0005t0024others(1): Show | a0001c0001t0027g0052 a0001c0005t0005g0009 a0001c0005t0005g0058 others(3): Show |
16 | 370 | 0.0432 | 1 | c.*27 others(12): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 2002 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81508448 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0027a0001c0002t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(7): Show |
61 | 370 | 0.1649 | 1 | c.*22 others(12): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 1522 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81510169 | G | GT | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG02040.hp2 HG02258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0017a0001c0005t0005a0001c0005t0024others(1): Show | a0001c0001t0017g0034 a0001c0005t0005g0009 a0001c0005t0005g0058 others(3): Show |
16 | 370 | 0.0432 | 1 | c.*52 others(5): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 6/6 | 520 | chr17 | TogoVar | ||||||
ACTG1_chr17_81504971_81517799 | 81510263 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG02040.hp2 HG02258.hp1 others(12): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0005a0001c0005t0024a0001c0006t0004 | a0001c0005t0005g0009 a0001c0005t0005g0058 a0001c0005t0024g0029 others(2): Show |
15 | 370 | 0.0405 | 1 | c.*42 others(5): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 6/6 | 426 | chr17 | TogoVar | ||||||
ACTG1_chr17_81504971_81517799 | 81511508 | T | TG | frameshift_variant | HIGH | NA19089.hp2 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0027 | 1 | 370 | 0.0027 | 1 | c.481 others(4): Show |
p.His others(5): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 4/6 | 553/1919 | 481/1128 | 161/375 | chr17 | TogoVar | |||
ACTG1_chr17_81504971_81517799 | 81512000 | G | GT | frameshift_variant | HIGH | NA19089.hp2 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0027 | 1 | 370 | 0.0027 | 1 | c.265 others(4): Show |
p.Thr others(4): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 3/6 | 337/1919 | 265/1128 | 89/375 | chr17 | TogoVar | |||
ACTG1_chr17_81504971_81517799 | 81512947 | G | GC | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01069.hp1 HG01192.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0027a0001c0002t0002a0001c0002t0006others(4): Show | a0001c0001t0027g0052 a0001c0002t0002g0020 a0001c0002t0002g0063 others(8): Show |
35 | 370 | 0.0946 | 1 | c.-22 others(5): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 149 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81513510 | G | GC | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01358.hp1 HG02273.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0020 | a0001c0001t0001a0002c0020t0001 | a0001c0001t0001g0008 a0002c0020t0001g0027 |
9 | 370 | 0.0243 | 1 | c.-78 others(5): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 712 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81517760 | G | GC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00642.hp2 others(16): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001a0001c0003t0016 | a0001c0002t0002g0003 a0001c0003t0001g0002 a0001c0003t0016g0030 |
19 | 370 | 0.0514 | 1 | c.-50 others(6): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 4962 | chr17 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73888626 | T | TA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG01099.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0016 a0001c0001t0001g0136 a0001c0001t0001g0253 others(111): Show |
115 | 416 | 0.2764 | 1 | c.-44 others(12): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 4381 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73895191 | A | AG | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003a0001c0002t0004 | a0001c0001t0005g0373 a0001c0001t0005g0381 a0001c0001t0005g0382 others(5): Show |
8 | 416 | 0.0192 | 1 | c.-37 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73896347 | C | CA | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02630.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0222 a0001c0001t0003g0229 a0001c0001t0004g0023 others(9): Show |
12 | 416 | 0.0289 | 1 | c.-37 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73898802 | C | CT | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp2 HG03017.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0129 others(9): Show |
12 | 416 | 0.0289 | 1 | c.-36 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73903939 | C | CA | intron_variant | MODIFIER | HG00735.hp2 HG01934.hp2 HG02080.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0004g0023 a0001c0002t0002g0011 a0001c0002t0002g0133 others(11): Show |
15 | 416 | 0.0361 | 1 | c.255 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904248 | C | CA | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02683.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0353 a0001c0001t0004g0394 a0001c0002t0001g0087 others(10): Show |
13 | 416 | 0.0313 | 1 | c.255 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73910365 | C | CT | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00735.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0088 a0001c0001t0001g0145 a0001c0001t0001g0197 others(12): Show |
16 | 416 | 0.0385 | 1 | c.451 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73910496 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00673.hp1 others(34): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0084 a0001c0001t0001g0142 a0001c0001t0001g0144 others(33): Show |
37 | 416 | 0.0889 | 1 | c.451 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73913170 | C | CA | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0019 a0001c0002t0003g0021 a0001c0002t0003g0022 others(3): Show |
7 | 416 | 0.0168 | 1 | c.452 others(8): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73914558 | C | CA | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00735.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0145 others(35): Show |
40 | 416 | 0.0962 | 1 | c.614 others(8): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73915519 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(185): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(173): Show |
188 | 416 | 0.4519 | 1 | c.805 others(8): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73916374 | G | GA | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0008g0038 a0001c0001t0008g0066 a0001c0002t0002g0029 others(6): Show |
10 | 416 | 0.0240 | 1 | c.806 others(8): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73919566 | G | GT | frameshift_variant | HIGH | HG03239.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0180 | 1 | 416 | 0.0024 | 1 | c.112 others(5): Show |
p.Cys others(5): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 9/9 | 1204/1501 | 1124/1131 | 375/376 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ACTG2_chr2_73888008_73924865 | 73920164 | T | TG | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01167.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0353 a0001c0001t0003g0259 a0001c0001t0003g0261 others(50): Show |
55 | 416 | 0.1322 | 1 | c.*58 others(10): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 300 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73924580 | A | AT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(175): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(166): Show |
178 | 416 | 0.4279 | 1 | c.*50 others(12): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 4716 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73924747 | C | CT | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG01884.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0207 a0001c0001t0003g0259 others(18): Show |
22 | 416 | 0.0529 | 1 | c.*51 others(12): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 4883 | chr2 | TogoVar | |||||||
ACTL10_chr20_33661943_33673525 | 33664961 | T | TA | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01884.hp2 HG02145.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0000 a0001c0005t0004g0000 |
13 | 368 | 0.0353 | 1 | c.-25 others(12): Show |
ACTL10 | ENSG00000288649.2 | transcript | ENST00000677665.1 | protein_coding | 1981 | chr20 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179558227 | G | GT | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG02056.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0028 others(10): Show |
14 | 380 | 0.0368 | 1 | c.-48 others(12): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 4698 | chr3 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179559701 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(162): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(99): Show |
165 | 380 | 0.4342 | 1 | c.-33 others(12): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 3224 | chr3 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179561027 | C | CT | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01109.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(16): Show |
26 | 380 | 0.0684 | 1 | c.-20 others(12): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 1898 | chr3 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179561913 | T | TA | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01891.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0073 |
4 | 380 | 0.0105 | 1 | c.-11 others(12): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 1012 | chr3 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179562010 | A | AT | upstream_gene_variant | MODIFIER | HG01169.hp1 HG01255.hp2 HG01258.hp2 others(12): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0001a0001c0002t0001a0004c0004t0001 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 others(10): Show |
15 | 380 | 0.0395 | 1 | c.-10 others(12): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 915 | chr3 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179562295 | A | AT | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01346.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0047 others(6): Show |
17 | 380 | 0.0447 | 1 | c.-79 others(10): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 630 | chr3 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179563110 | C | CG | frameshift_variant others(1): Show |
HIGH | NA19087.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0139 | 1 | 380 | 0.0026 | 1 | c.23d others(3): Show |
p.Asp others(3): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 1/14 | 191/1854 | 24/1290 | 8/429 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ACTL6A_chr3_179557926_179593407 | 179564885 | C | CT | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00673.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 others(32): Show |
54 | 380 | 0.1421 | 1 | c.25+ others(8): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179568174 | C | CA | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(10): Show |
17 | 380 | 0.0447 | 1 | c.26- others(8): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179568527 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01070.hp2 others(53): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 others(27): Show |
56 | 380 | 0.1474 | 1 | c.26- others(8): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179572982 | C | CT | intron_variant | MODIFIER | HG01074.hp1 HG02523.hp1 HG02698.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0083 others(5): Show |
9 | 380 | 0.0237 | 1 | c.278 others(8): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |