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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MXRA8_chr1_1347691_1363555 | 1350846 | A | AGGAGCGA others(33): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0005 | 1 | 332 | 0.0030 | 40 | c.*27 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1844 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350886 | A | AGGAGCGA others(33): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0025 | 1 | 331 | 0.0030 | 40 | c.*27 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1804 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350966 | A | AGGAGCGA others(33): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 334 | 0.0030 | 40 | c.*26 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1724 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1351017 | G | GGGGAGTG others(33): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 NA18906.hp2 |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0012 | a0002c0003t0004g0005 a0002c0003t0012g0025 |
2 | 335 | 0.0060 | 40 | c.*25 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1673 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1351057 | G | GGGGAGTG others(33): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0005 | 1 | 335 | 0.0030 | 40 | c.*25 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1633 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1351201 | G | GGGGCAGG others(33): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 NA19070.hp2 NA19089.hp2 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0004a0007c0009t0008 | a0001c0001t0004g0009 a0007c0009t0008g0048 |
3 | 86 | 0.0349 | 40 | c.*24 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1489 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1351281 | C | CGGGCAGG others(33): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0052 | 1 | 310 | 0.0032 | 40 | c.*23 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1409 | chr1 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591770 | C | CTCTTCTT others(33): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0029 | 1 | 350 | 0.0029 | 40 | c.-33 others(51): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3200 | chr12 | TogoVar | |||||||
MYBPC3_chr11_47326406_47357702 | 47348908 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01074.hp1 others(16): Show |
a0001a0016 | a0001c0001a0001c0002a0016c0029 | a0001c0001t0001a0001c0002t0001a0016c0029t0001 | a0001c0001t0001g0131 a0001c0001t0001g0167 a0001c0001t0001g0208 others(15): Show |
19 | 36 | 0.5278 | 40 | c.655 others(55): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294129 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0283 |
2 | 218 | 0.0092 | 40 | c.378 others(57): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYL10_chr7_101608330_101634296 | 101609713 | C | CTGCCTCC others(33): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 317 | 0.0032 | 40 | c.*37 others(51): Show |
MYL10 | ENSG00000106436.8 | transcript | ENST00000223167.5 | protein_coding | 3616 | chr7 | TogoVar | |||||||
MYL12B_chr18_3257133_3283461 | 3281910 | T | TTTCCTTC others(33): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 NA19004.hp2 NA19066.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 5 | 17 | 0.2941 | 40 | c.*39 others(51): Show |
MYL12B | ENSG00000118680.14 | transcript | ENST00000237500.10 | protein_coding | 3450 | chr18 | TogoVar | |||||||
MYL5_chr4_669542_687028 | 681595 | C | CCGCCGCC others(33): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02451.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0032 a0001c0001t0001g0063 a0001c0001t0001g0134 others(2): Show |
6 | 71 | 0.0845 | 40 | c.421 others(55): Show |
MYL5 | ENSG00000215375.7 | transcript | ENST00000400159.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16936304 | C | CGCCCCGC others(33): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02895.hp2 others(6): Show |
a0001a0004a0010others(1): Show | a0001c0001a0001c0022a0004c0004others(3): Show | a0001c0001t0082a0001c0001t0160a0001c0022t0156others(5): Show | a0001c0001t0082g0246 a0001c0001t0160g0269 a0001c0022t0156g0265 others(6): Show |
9 | 164 | 0.0549 | 40 | c.-49 others(49): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 17 | chr5 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 108860201 | T | TTCCTTCT others(33): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01891.hp1 HG01952.hp1 others(9): Show |
a0002a0003a0005others(3): Show | a0002c0001a0002c0069a0003c0004others(5): Show | a0002c0001t0001a0002c0001t0003a0002c0069t0022others(7): Show | a0002c0001t0001g0060 a0002c0001t0001g0116 a0002c0001t0003g0118 others(9): Show |
12 | 150 | 0.0800 | 40 | c.135 others(59): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 11/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109010957 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03471.hp1 HG03490.hp1 others(1): Show |
a0001a0008a0027 | a0001c0002a0001c0065a0008c0006others(1): Show | a0001c0002t0003a0001c0065t0006a0008c0006t0004others(1): Show | a0001c0002t0003g0028 a0001c0065t0006g0072 a0008c0006t0004g0141 others(1): Show |
4 | 101 | 0.0396 | 40 | c.259 others(59): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO18A_chr17_29066122_29185398 | 29116613 | G | GCACACAC others(33): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0008 | a0002c0008t0032 | a0002c0008t0032g0209 | 1 | 81 | 0.0123 | 40 | c.203 others(57): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 10/41 | chr17 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25945904 | C | CTCCCCTC others(33): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0070 | a0070c0081 | a0070c0081t0001 | a0070c0081t0001g0016 | 1 | 200 | 0.0050 | 40 | c.551 others(57): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25948527 | T | TCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG00408.hp1 NA19043.hp1 |
a0005a0077 | a0005c0031a0077c0100 | a0005c0031t0001a0077c0100t0001 | a0005c0031t0001g0142 a0077c0100t0001g0001 |
2 | 5 | 0.4000 | 40 | c.574 others(57): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 36/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 26033801 | C | CTTCCTTT others(33): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0012 | a0012c0088 | a0012c0088t0001 | a0012c0088t0001g0220 | 1 | 219 | 0.0046 | 40 | c.*33 others(51): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 2757 | chr22 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32552401 | A | AATCCATC others(33): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0036 a0001c0001t0009g0044 |
2 | 218 | 0.0092 | 40 | c.286 others(61): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 140 | 0.0071 | 40 | c.110 others(59): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282916 | G | GGGAGGGG others(33): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 212 | 0.0047 | 40 | c.4-1 others(55): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGAGGGGG others(33): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 a0001c0002t0001g0150 |
2 | 162 | 0.0123 | 40 | c.4-1 others(55): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282929 | A | AGGGGGAG others(33): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02723.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0009a0004c0009t0001 | a0001c0001t0009g0036 a0001c0001t0009g0167 a0001c0001t0009g0169 others(1): Show |
4 | 137 | 0.0292 | 40 | c.4-1 others(55): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(33): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 79 | 0.0127 | 40 | c.327 others(55): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8561417 | C | CCCTCCCT others(33): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02145.hp1 NA18957.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0126 a0001c0001t0002g0324 others(5): Show |
8 | 338 | 0.0237 | 40 | c.4-5 others(53): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0004 | a0004c0009 | a0004c0009t0003 | a0004c0009t0003g0209 | 1 | 72 | 0.0139 | 40 | c.194 others(57): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0276 | 1 | 72 | 0.0139 | 40 | c.194 others(57): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAATA others(33): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0004 | a0004c0014 | a0004c0014t0003 | a0004c0014t0003g0109 | 1 | 72 | 0.0139 | 40 | c.194 others(57): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAATA others(33): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0117 | 1 | 72 | 0.0139 | 40 | c.194 others(57): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0047 | a0001c0001t0001g0170 a0001c0001t0047g0179 |
2 | 32 | 0.0625 | 40 | c.220 others(59): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYOCD_chr17_12660890_12773949 | 12693625 | G | GAATAAAA others(33): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0115 | 1 | 91 | 0.0110 | 40 | c.56- others(57): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93378693 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03225.hp1 NA18983.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0017 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0002t0001g0101 a0001c0002t0002g0212 a0001c0003t0001g0061 others(2): Show |
5 | 38 | 0.1316 | 40 | c.200 others(59): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 21/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93406288 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01981.hp1 HG02004.hp2 others(5): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0145 a0001c0003t0001g0160 a0001c0003t0002g0185 others(5): Show |
8 | 21 | 0.3810 | 40 | c.730 others(57): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 7/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93478836 | A | AAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 a0001c0002t0001g0106 |
2 | 76 | 0.0263 | 40 | c.88+ others(55): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3193309 | T | TATATGTA others(33): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0110 | a0004c0110t0001 | a0004c0110t0001g0001 | 1 | 328 | 0.0030 | 40 | c.431 others(55): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 3/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2072257 | G | GATGCTCT others(33): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0012 | 1 | 371 | 0.0027 | 40 | c.794 others(53): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100080 | T | TCTTCTTT others(33): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03239.hp1 HG03490.hp1 others(6): Show |
a0002a0004a0009others(2): Show | a0002c0042a0002c0097a0004c0007others(5): Show | a0002c0042t0002a0002c0097t0006a0004c0007t0001others(5): Show | a0002c0042t0002g0135 a0002c0097t0006g0050 a0004c0007t0001g0238 others(6): Show |
9 | 306 | 0.0294 | 40 | c.244 others(57): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100117 | C | CTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01928.hp1 HG02132.hp1 others(5): Show |
a0005a0007a0008others(4): Show | a0005c0005a0007c0010a0007c0089others(5): Show | a0005c0005t0001a0007c0010t0001a0007c0089t0001others(5): Show | a0005c0005t0001g0143 a0007c0010t0001g0367 a0007c0089t0001g0228 others(5): Show |
8 | 378 | 0.0212 | 40 | c.244 others(57): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100121 | C | CTTCTTTC others(33): Show |
intron_variant | MODIFIER | NA18979.hp1 NA18989.hp2 NA19063.hp2 |
a0005a0040 | a0005c0146a0040c0052 | a0005c0146t0004a0040c0052t0002 | a0005c0146t0004g0105 a0040c0052t0002g0063 a0040c0052t0002g0064 |
3 | 341 | 0.0088 | 40 | c.244 others(57): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2120675 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0374 | 1 | 97 | 0.0103 | 40 | c.345 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2120685 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01070.hp1 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0003a0001c0009others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0009t0001others(3): Show | a0001c0002t0001g0218 a0001c0003t0001g0020 a0001c0003t0001g0372 others(6): Show |
9 | 331 | 0.0272 | 40 | c.345 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2127564 | C | CCAGGCAG others(33): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03688.hp1 NA19058.hp1 |
a0002a0004a0005 | a0002c0045a0004c0051a0005c0109 | a0002c0045t0002a0004c0051t0001a0005c0109t0002 | a0002c0045t0002g0252 a0004c0051t0001g0360 a0005c0109t0002g0115 |
3 | 385 | 0.0078 | 40 | c.369 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2127564 | C | CCAGGCAG others(33): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0029 | a0029c0127 | a0029c0127t0001 | a0029c0127t0001g0395 | 1 | 383 | 0.0026 | 40 | c.369 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2127716 | A | ACGCAGCC others(33): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG03579.hp2 |
a0001a0029 | a0001c0038a0029c0094 | a0001c0038t0001a0029c0094t0001 | a0001c0038t0001g0076 a0001c0038t0001g0077 a0029c0094t0001g0029 |
3 | 384 | 0.0078 | 40 | c.369 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2127756 | G | GCGCAGCC others(33): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01928.hp2 HG02165.hp1 others(2): Show |
a0021a0049a0052others(1): Show | a0021c0043a0049c0115a0052c0126others(1): Show | a0021c0043t0001a0049c0115t0001a0052c0126t0001others(1): Show | a0021c0043t0001g0241 a0021c0043t0001g0382 a0049c0115t0001g0204 others(2): Show |
5 | 89 | 0.0562 | 40 | c.369 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69877001 | G | GTCTTTCT others(33): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02559.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0009 | a0001c0001t0003a0001c0003t0001a0006c0009t0003 | a0001c0001t0003g0272 a0001c0003t0001g0241 a0001c0003t0001g0270 others(1): Show |
4 | 284 | 0.0141 | 40 | c.138 others(57): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891635 | C | CTCTTTCT others(33): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0122 | 1 | 284 | 0.0035 | 40 | c.903 others(55): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891637 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18906.hp2 NA19056.hp2 |
a0003a0008 | a0003c0004a0008c0013 | a0003c0004t0001a0008c0013t0004 | a0003c0004t0001g0036 a0003c0004t0001g0037 a0008c0013t0004g0175 |
3 | 146 | 0.0205 | 40 | c.903 others(55): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |