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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM1_chr16_20618235_20702680 | 20622192 | GGTGGGTG others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01109.hp2 others(76): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0005a0004c0010others(3): Show | a0001c0001t0002a0001c0005t0001a0004c0010t0002others(3): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0061 others(74): Show |
79 | 252 | 0.3135 | -10 | c.*12 others(21): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1042 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20627824 | ATCTCTCT others(3): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA19091.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0120 a0001c0005t0001g0276 |
2 | 86 | 0.0233 | -10 | c.130 others(27): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
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 | a0001c0001t0007g0233 a0001c0003t0001g0048 a0001c0003t0001g0121 others(8): Show |
11 | 76 | 0.1447 | -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 | a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0196 |
3 | 93 | 0.0323 | -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(6): Show |
a0001a0002a0008 | a0001c0001a0002c0004a0008c0012 | a0001c0001t0002a0002c0004t0001a0008c0012t0001 | a0001c0001t0002g0164 a0001c0001t0002g0215 a0001c0001t0002g0232 others(6): Show |
9 | 53 | 0.1698 | -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 |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 others(47): Show |
50 | 74 | 0.6757 | -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 | a0013 | a0013c0030 | a0013c0030t0031 | a0013c0030t0031g0109 | 1 | 434 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(84): Show |
108 | 141 | 0.7660 | -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 | a0002c0002t0002g0187 | 1 | 432 | 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 | a0001c0001a0001c0035a0001c0039others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0032 others(82): Show |
106 | 134 | 0.7910 | -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 |
a0005 | a0005c0009 | a0005c0009t0006 | a0005c0009t0006g0019 a0005c0009t0006g0049 a0005c0009t0006g0310 others(1): Show |
5 | 432 | 0.0116 | -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 |
a0002a0003a0006others(3): Show | a0002c0002a0003c0003a0006c0005others(3): Show | a0002c0002t0002a0003c0003t0001a0003c0003t0003others(6): Show | a0002c0002t0002g0131 a0003c0003t0001g0142 a0003c0003t0001g0205 others(42): Show |
61 | 190 | 0.3211 | -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 | 208 | 0.0048 | -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 | a0002c0004t0001g0149 | 1 | 20 | 0.0500 | -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 | a0001c0002t0001g0066 | 1 | 121 | 0.0083 | -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 | a0001c0001t0001g0179 | 1 | 310 | 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 | a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0001g0286 others(6): Show |
9 | 245 | 0.0367 | -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 | 117 | 0.0085 | -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(88): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(10): Show | a0001c0001t0003g0099 a0001c0001t0003g0208 a0001c0001t0003g0209 others(88): Show |
91 | 220 | 0.4136 | -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(108): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0074 a0001c0001t0001g0205 a0001c0001t0003g0099 others(108): Show |
111 | 288 | 0.3854 | -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 | a0001c0001t0001g0026 a0002c0004t0003g0282 a0002c0015t0003g0041 |
3 | 284 | 0.0106 | -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 | 184 | 0.0054 | -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 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0019 others(1): Show |
50 | 132 | 0.3788 | -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 | a0001c0012t0002g0052 | 1 | 368 | 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 | a0001c0001t0001g0029 a0001c0001t0001g0130 a0001c0001t0001g0351 others(62): Show |
68 | 336 | 0.2024 | -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 | a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0194 others(24): Show |
27 | 123 | 0.2195 | -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 | a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0185 others(1): Show |
6 | 43 | 0.1395 | -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 | 480 | 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 | 468 | 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 | 468 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(129): Show |
135 | 362 | 0.3729 | -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(76): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0062 others(74): Show |
79 | 126 | 0.6270 | -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(30): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(4): Show | a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0167 others(29): Show |
33 | 49 | 0.6735 | -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 | a0001c0001t0001g0046 a0001c0001t0001g0134 a0001c0001t0001g0254 others(66): Show |
70 | 258 | 0.2713 | -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 | a0002c0002t0003g0321 | 1 | 242 | 0.0041 | -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 | a0001c0001t0008g0104 | 1 | 392 | 0.0026 | -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 | a0001c0001t0001g0200 a0001c0001t0002g0001 a0001c0001t0002g0026 others(1): Show |
5 | 282 | 0.0177 | -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(134): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 others(133): Show |
137 | 155 | 0.8839 | -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 | a0001c0003t0005g0170 a0001c0006t0002g0169 |
2 | 150 | 0.0133 | -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(96): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0257 others(96): Show |
99 | 118 | 0.8390 | -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 | a0001c0001t0001g0013 a0001c0001t0003g0021 a0001c0001t0004g0004 others(13): Show |
16 | 207 | 0.0773 | -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 | a0002c0005t0004g0256 a0002c0005t0004g0299 a0002c0008t0004g0280 |
3 | 134 | 0.0224 | -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 | a0003c0007t0001g0171 | 1 | 382 | 0.0026 | -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 | a0001c0001t0003 | a0001c0001t0003g0254 | 1 | 312 | 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 | a0001c0002t0001g0038 | 1 | 307 | 0.0033 | -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 | a0001c0002t0001a0001c0004t0001a0001c0004t0005others(5): Show | a0001c0002t0001g0226 a0001c0004t0001g0229 a0001c0004t0001g0234 others(23): Show |
26 | 312 | 0.0833 | -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 | a0001c0002t0001g0028 | 1 | 312 | 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 | a0001c0001t0011a0001c0001t0013a0002c0008t0011 | a0001c0001t0011g0286 a0001c0001t0013g0305 a0001c0001t0013g0306 others(3): Show |
6 | 104 | 0.0577 | -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 | 69 | 0.0145 | -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 | a0001c0001t0002g0209 | 1 | 312 | 0.0032 | -10 | c.241 others(27): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | chr19 | TogoVar |