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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM1_chr16_20618235_20702680 | 20627869 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01952.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0001 | a0001c0001t0007g0236a0001c0003t0001g0049a0001c0003t0001g0118others(8): Show | 11 | 318 | 0.0346 | -10 | c.130 others(27): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20671440 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | NA19005.hp2 NA19054.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184a0001c0001t0002g0186a0001c0001t0002g0199 | 3 | 318 | 0.0094 | -10 | c.752 others(23): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20691751 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02055.hp2 HG02451.hp2 others(7): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0002g0167a0001c0001t0002g0218a0001c0001t0002g0235others(7): Show | 10 | 318 | 0.0315 | -10 | c.-51 others(25): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20697556 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG00741.hp1 others(47): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(47): Show | 50 | 318 | 0.1572 | -10 | c.-52 others(23): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20488088 | ACTTAAGG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01928.hp2 | a0017 | a0017c0030 | a0017c0030t0031 | a0017c0030t0031g0122 | 1 | 436 | 0.0023 | -10 | c.*14 others(21): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 420 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(105): Show |
a0001a0007a0011others(3): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(88): Show | 108 | 388 | 0.2784 | -10 | c.-8- others(25): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20421614 | GCTATATA others(3): Show |
G | intron_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0211 | 1 | 434 | 0.0023 | -10 | c.767 others(25): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20421615 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(103): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0037a0001c0041others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0059others(87): Show | 106 | 434 | 0.2442 | -10 | c.767 others(25): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM5_chr16_20404534_20446336 | 20421650 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp2 HG02895.hp1 others(2): Show |
a0007 | a0007c0009 | a0007c0009t0006 | a0007c0009t0006g0042a0007c0009t0006g0345a0007c0009t0006g0346others(1): Show | 5 | 434 | 0.0115 | -10 | c.767 others(25): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM5_chr16_20404534_20446336 | 20430200 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(58): Show |
a0002a0003a0005others(3): Show | a0002c0002a0003c0003a0005c0005others(3): Show | a0002c0002t0002a0003c0003t0001a0003c0003t0003others(6): Show | a0002c0002t0002g0163a0003c0003t0001g0098a0003c0003t0001g0234others(51): Show | 61 | 434 | 0.1406 | -10 | c.112 others(27): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSS1_chr20_25001237_25063139 | 25022360 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169 | 1 | 244 | 0.0041 | -10 | c.960 others(25): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 5/13 | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34877818 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0150 | 1 | 312 | 0.0032 | -10 | c.178 others(27): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS2_chr20_34871612_34932959 | 34919576 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 312 | 0.0032 | -10 | c.972 others(23): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS2_chr20_34871612_34932959 | 34925046 | AACTTTGC others(3): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 312 | 0.0032 | -10 | c.165 others(27): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107503 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01069.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0241a0001c0001t0001g0251a0001c0001t0001g0286others(6): Show | 9 | 290 | 0.0310 | -10 | c.312 others(27): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81137321 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0038 | 1 | 290 | 0.0035 | -10 | c.646 others(27): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213580 | TCCTCCCC others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00738.hp1 others(89): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(11): Show | a0001c0001t0003g0094a0001c0001t0003g0207a0001c0001t0003g0209others(89): Show | 92 | 290 | 0.3172 | -10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213692 | GCTGCCCT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00597.hp2 others(109): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0119a0001c0001t0001g0205a0001c0001t0003g0094others(109): Show | 112 | 290 | 0.3862 | -10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213702 | TCTCCCCT others(3): Show |
T | intron_variant | MODIFIER | HG02922.hp1 NA18949.hp2 NA20905.hp2 |
a0001a0002 | a0001c0001a0002c0004a0002c0015 | a0001c0001t0001a0002c0004t0003a0002c0015t0003 | a0001c0001t0001g0026a0002c0004t0003g0282a0002c0015t0003g0041 | 3 | 290 | 0.0103 | -10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213793 | TTTCTCTT others(3): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0147 | 1 | 290 | 0.0035 | -10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTA1_chr1_229426245_229439094 | 229435461 | CCTCTCTC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0021others(2): Show | 50 | 450 | 0.1111 | -10 | c.-14 others(21): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | ||||||
ACTG1_chr17_81504971_81517799 | 81505168 | AAAAAAAA others(3): Show |
A | downstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0053 | 1 | 370 | 0.0027 | -10 | c.*55 others(21): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 4802 | chr17 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73914558 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00639.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0027a0001c0001t0001g0126a0001c0001t0001g0353others(62): Show | 68 | 416 | 0.1635 | -10 | c.614 others(25): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73923641 | CAAGAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG01255.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0103a0001c0001t0003g0105a0001c0001t0003g0192others(24): Show | 27 | 416 | 0.0649 | -10 | c.*40 others(21): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3777 | chr2 | TogoVar | ||||||
ACTL6B_chr7_100638097_100661448 | 100652999 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0036a0001c0001t0001g0187others(1): Show | 6 | 360 | 0.0167 | -10 | c.369 others(27): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | ||||||
ACTL7A_chr9_108857266_108868756 | 108858825 | CACACACA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 482 | 0.0021 | -10 | c.-34 others(21): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 3440 | chr9 | TogoVar | ||||||
ACTL7B_chr9_108849588_108860986 | 108850259 | GGAGGTTG others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG03209.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 2 | 470 | 0.0043 | -10 | c.*44 others(21): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 4328 | chr9 | TogoVar | ||||||
ACTL7B_chr9_108849588_108860986 | 108858825 | CACACACA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 470 | 0.0021 | -10 | c.-29 others(21): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 2840 | chr9 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17757257 | TAAGGAAG others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(132): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(130): Show | 135 | 366 | 0.3689 | -10 | c.-25 others(27): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17776969 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0055others(75): Show | 80 | 366 | 0.2186 | -10 | c.-25 others(29): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17796306 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01069.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(4): Show | a0001c0001t0001g0037a0001c0001t0001g0068a0001c0001t0001g0085others(30): Show | 34 | 366 | 0.0929 | -10 | c.-24 others(29): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17805371 | CTTTTTCT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00609.hp2 others(67): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(9): Show | a0001c0001t0001g0045a0001c0001t0001g0134a0001c0001t0001g0256others(66): Show | 70 | 366 | 0.1913 | -10 | c.-24 others(29): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17805377 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0323 | 1 | 366 | 0.0027 | -10 | c.-24 others(29): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTMAP_chr19_40735861_40755477 | 40753382 | ATGTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0107 | 1 | 426 | 0.0024 | -10 | c.-35 others(21): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2906 | chr19 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68901233 | GTTTTGTT others(3): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0201a0001c0001t0002g0001a0001c0001t0002g0025others(1): Show | 5 | 284 | 0.0176 | -10 | c.762 others(27): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68950294 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(135): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0143others(135): Show | 138 | 284 | 0.4859 | -10 | c.106 others(29): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236689300 | GATATATA others(3): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0005a0001c0006t0002 | a0001c0003t0005g0172a0001c0006t0002g0171 | 2 | 344 | 0.0058 | -10 | c.126 others(27): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236693177 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(97): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0244a0001c0001t0001g0251a0001c0001t0001g0258others(97): Show | 100 | 344 | 0.2907 | -10 | c.126 others(27): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709220 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02083.hp2 HG02129.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0011a0001c0001t0003g0020a0001c0001t0004g0003others(13): Show | 16 | 344 | 0.0465 | -10 | c.127 others(27): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236721015 | GTTTTTTG others(3): Show |
G | intron_variant | MODIFIER | HG02080.hp2 NA19063.hp1 NA19072.hp2 |
a0002 | a0002c0005a0002c0008 | a0002c0005t0004a0002c0008t0004 | a0002c0005t0004g0256a0002c0005t0004g0297a0002c0008t0004g0277 | 3 | 344 | 0.0087 | -10 | c.448 others(25): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN3_chr11_66541903_66568334 | 66552851 | GTCTCTCT others(3): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0188 | 1 | 400 | 0.0025 | -10 | c.383 others(27): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38653209 | GCGCCCTT others(3): Show |
G | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0249 | 1 | 314 | 0.0032 | -10 | c.162 others(27): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38673647 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 314 | 0.0032 | -10 | c.162 others(29): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38673656 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(23): Show |
a0001 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0001a0001c0004t0005a0001c0004t0013others(5): Show | a0001c0002t0001g0226a0001c0004t0005g0095a0001c0004t0005g0222others(23): Show | 26 | 314 | 0.0828 | -10 | c.162 others(29): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38673737 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 314 | 0.0032 | -10 | c.162 others(29): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38679568 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG02970.hp1 HG03139.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0011a0001c0001t0016a0002c0008t0011 | a0001c0001t0011g0281a0001c0001t0016g0302a0001c0001t0016g0303others(3): Show | 6 | 314 | 0.0191 | -10 | c.163 others(29): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38680212 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0243 | 1 | 314 | 0.0032 | -10 | c.163 others(29): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38728187 | CCTGGTCT others(3): Show |
C | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 314 | 0.0032 | -10 | c.241 others(27): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38731075 | CCCATGCC others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp1 others(22): Show |
a0001 | a0001c0003a0001c0012a0001c0013others(1): Show | a0001c0003t0003a0001c0003t0009a0001c0003t0051others(3): Show | a0001c0003t0003g0087a0001c0003t0003g0088a0001c0003t0003g0089others(22): Show | 25 | 314 | 0.0796 | -10 | c.*16 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 1651 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
ACTN4_chr19_38642649_38736589 | 38735697 | CGGGGGTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0198a0001c0001t0022g0199 | 2 | 314 | 0.0064 | -10 | c.*62 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4109 | chr19 | TogoVar |