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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSMO1_chr4_165322669_165348164 | 165329625 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 462 | 0.0022 | 29 | c.-32 others(46): Show |
MSMO1 | ENSG00000052802.13 | transcript | ENST00000261507.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MSRA_chr8_10049292_10433891 | 10113292 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 | 1 | 286 | 0.0035 | 29 | c.142 others(48): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MSRA_chr8_10049292_10433891 | 10358565 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0286 | 1 | 286 | 0.0035 | 29 | c.543 others(48): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MSRB1_chr16_1933229_1948199 | 1934084 | G | GTTTTTTT others(22): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 448 | 0.0022 | 29 | c.*50 others(40): Show |
MSRB1 | ENSG00000198736.13 | transcript | ENST00000361871.8 | protein_coding | 4144 | chr16 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65396704 | A | AAAAAGAA others(22): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0080 | 1 | 312 | 0.0032 | 29 | c.292 others(48): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MSTO1_chr1_155605218_155619951 | 155609243 | A | ATATATAT others(22): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 398 | 0.0025 | 29 | c.-10 others(40): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 974 | chr1 | TogoVar | ||||||
MSTO1_chr1_155605218_155619951 | 155609243 | A | ATATATAT others(22): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 398 | 0.0025 | 29 | c.-10 others(40): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 974 | chr1 | TogoVar | ||||||
MSTO1_chr1_155605218_155619951 | 155609243 | A | ATATATAT others(22): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 NA20752.hp1 |
a0002a0007 | a0002c0002a0007c0008 | a0002c0002t0001a0007c0008t0001 | a0002c0002t0001g0002a0007c0008t0001g0002 | 2 | 398 | 0.0050 | 29 | c.-10 others(40): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 974 | chr1 | TogoVar | ||||||
MSTO1_chr1_155605218_155619951 | 155609244 | T | TATATATA others(22): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 NA18980.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 2 | 398 | 0.0050 | 29 | c.-10 others(40): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 973 | chr1 | TogoVar | ||||||
MT3_chr16_56584528_56596085 | 56592164 | T | TATATATA others(22): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 438 | 0.0023 | 29 | c.*12 others(40): Show |
MT3 | ENSG00000087250.9 | transcript | ENST00000200691.5 | protein_coding | 1080 | chr16 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56568286 | A | AAAGAAAG others(22): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364 | 1 | 428 | 0.0023 | 29 | c.97+ others(42): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42594728 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 312 | 0.0032 | 29 | c.191 others(48): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTAP_chr9_21797636_21872081 | 21802985 | A | ACACACAC others(22): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0338 | 1 | 382 | 0.0026 | 29 | c.33+ others(42): Show |
MTAP | ENSG00000099810.21 | transcript | ENST00000644715.2 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
MTCH2_chr11_47612317_47647559 | 47633527 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03654.hp1 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040a0002c0002t0001g0063a0002c0002t0001g0103 | 3 | 370 | 0.0081 | 29 | c.369 others(46): Show |
MTCH2 | ENSG00000109919.10 | transcript | ENST00000302503.8 | protein_coding | 5/12 | chr11 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01978.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0093 | a0001c0001t0032g0093a0001c0001t0093g0031 | 2 | 370 | 0.0054 | 29 | c.104 others(48): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03017.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0031a0001c0002t0003 | a0001c0001t0031g0178a0001c0002t0003g0206 | 2 | 370 | 0.0054 | 29 | c.104 others(48): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02683.hp2 NA19000.hp1 NA19080.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0078 | a0001c0002t0003g0231a0001c0002t0003g0239a0001c0002t0078g0215 | 3 | 370 | 0.0081 | 29 | c.104 others(48): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTFR1_chr8_65639734_65715562 | 65655969 | C | CATATATA others(22): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 348 | 0.0029 | 29 | c.-81 others(48): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150982181 | C | CTTTTTAA others(22): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 226 | 0.0044 | 29 | c.212 others(50): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTRFR_chr12_123228436_123262960 | 123253107 | T | TTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 306 | 0.0033 | 29 | c.-28 others(44): Show |
MTRFR | ENSG00000130921.9 | transcript | ENST00000253233.6 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99580574 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0128 | 1 | 364 | 0.0028 | 29 | c.62- others(44): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(22): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0028 | a0002c0028t0002 | a0002c0028t0002g0327 | 1 | 330 | 0.0030 | 29 | c.*40 others(40): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | ||||||
MUC20_chr3_195715978_195738551 | 195717011 | T | TACTGCAG others(22): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00639.hp2 others(95): Show |
a0000a0001a0002others(26): Show | a0000c0002a0001c0001a0001c0004others(32): Show | a0000c0002t0003a0001c0001t0001a0001c0004t0001others(33): Show | a0000c0002t0003g0001a0001c0001t0001g0002a0001c0001t0001g0006others(74): Show | 98 | 185 | 0.5297 | 29 | c.-39 others(40): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 3966 | chr3 | TogoVar | ||||||
MUC20_chr3_195715978_195738551 | 195717011 | T | TACTGCAG others(22): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 HG03516.hp1 |
a0040a0041 | a0040c0045a0041c0046 | a0040c0045t0005a0041c0046t0005 | a0040c0045t0005g0094a0041c0046t0005g0095 | 2 | 185 | 0.0108 | 29 | c.-39 others(40): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 3966 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195777840 | C | CATACCTT others(22): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03239.hp2 NA18960.hp1 |
a0004a0139a0149 | a0004c0017a0139c0095a0149c0069 | a0004c0017t0001a0139c0095t0001a0149c0069t0001 | a0004c0017t0001g0104a0139c0095t0001g0080a0149c0069t0001g0162 | 3 | 249 | 0.0121 | 29 | c.129 others(48): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110676360 | A | ATATTATA others(22): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG01069.hp2 others(9): Show |
a0001a0004a0005others(2): Show | a0001c0002a0004c0006a0005c0005others(2): Show | a0001c0002t0002a0004c0006t0004a0005c0005t0002others(3): Show | a0001c0002t0002g0109a0001c0002t0002g0111a0004c0006t0004g0110others(9): Show | 12 | 326 | 0.0368 | 29 | c.80- others(44): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MX1_chr21_41421239_41464212 | 41441054 | A | AGTGAGAA others(22): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01884.hp1 others(4): Show |
a0002a0003 | a0002c0005a0003c0012a0003c0019others(1): Show | a0002c0005t0012a0003c0012t0003a0003c0012t0008others(2): Show | a0002c0005t0012g0152a0003c0012t0003g0109a0003c0012t0003g0150others(3): Show | 7 | 408 | 0.0172 | 29 | c.730 others(42): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
MX1_chr21_41421239_41464212 | 41441055 | G | GTGAGAAT others(22): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(116): Show |
a0001a0002a0004others(1): Show | a0001c0032a0002c0004a0002c0005others(7): Show | a0001c0032t0001a0002c0004t0001a0002c0004t0002others(14): Show | a0001c0032t0001g0127a0002c0004t0001g0003a0002c0004t0001g0018others(70): Show | 119 | 408 | 0.2917 | 29 | c.730 others(42): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0339 | 1 | 372 | 0.0027 | 29 | c.274 others(46): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MXRA5_chrX_3303565_3351652 | 3341502 | T | TATTATAT others(22): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 284 | 0.0035 | 29 | c.188 others(46): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350786 | G | GGAGGGGG others(22): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 338 | 0.0030 | 29 | c.*28 others(40): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1904 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350946 | G | GGAGGGGG others(22): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 HG02630.hp2 HG03490.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 12 | 338 | 0.0355 | 29 | c.*26 others(40): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1744 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350986 | G | GGAGGGGG others(22): Show |
downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 338 | 0.0030 | 29 | c.*26 others(40): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1704 | chr1 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53869966 | C | CCTGGACT others(22): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 378 | 0.0027 | 29 | c.-3+ others(42): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYBPC3_chr11_47326406_47357702 | 47348927 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0259 | 1 | 374 | 0.0027 | 29 | c.655 others(44): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG04199.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0266 | 2 | 376 | 0.0053 | 29 | c.125 others(46): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01975.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0235a0001c0001t0001g0237 | 3 | 376 | 0.0080 | 29 | c.125 others(46): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0097 | 2 | 376 | 0.0053 | 29 | c.125 others(46): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 376 | 0.0027 | 29 | c.125 others(46): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0216 | 1 | 376 | 0.0027 | 29 | c.125 others(46): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | chr17 | TogoVar | ||||||
MYCBP_chr1_38857493_38878348 | 38866044 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0080 | 1 | 434 | 0.0023 | 29 | c.267 others(44): Show |
MYCBP | ENSG00000214114.9 | transcript | ENST00000397572.5 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
MYF6_chr12_80702634_80714474 | 80711719 | A | ATTTGTTT others(22): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | 29 | c.*27 others(40): Show |
MYF6 | ENSG00000111046.4 | transcript | ENST00000228641.4 | protein_coding | 2246 | chr12 | TogoVar | ||||||
MYH11_chr16_15698135_15862028 | 15712882 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01069.hp1 others(17): Show |
a0001a0002 | a0001c0009a0001c0010a0002c0001others(3): Show | a0001c0009t0001a0001c0010t0001a0002c0001t0001others(3): Show | a0001c0009t0001g0290a0001c0010t0001g0273a0002c0001t0001g0058others(17): Show | 20 | 297 | 0.0673 | 29 | c.578 others(48): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 40/40 | chr16 | TogoVar | ||||||
MYH11_chr16_15698135_15862028 | 15788095 | T | TTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 297 | 0.0034 | 29 | c.531 others(46): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 4/40 | chr16 | TogoVar | ||||||
MYH1_chr17_10487307_10523542 | 10495760 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02896.hp1 HG03453.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0003 | a0001c0001t0001a0001c0013t0001a0002c0003t0001 | a0001c0001t0001g0014a0001c0001t0001g0043a0001c0001t0001g0161others(4): Show | 11 | 360 | 0.0306 | 29 | c.516 others(46): Show |
MYH1 | ENSG00000109061.10 | transcript | ENST00000226207.6 | protein_coding | 35/39 | chr17 | TogoVar | ||||||
MYH9_chr22_36276280_36392967 | 36276460 | G | GAAGGGGG others(22): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(190): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0050a0001c0001t0001g0062a0001c0001t0001g0101others(190): Show | 193 | 242 | 0.7975 | 29 | c.*62 others(40): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 4819 | chr22 | TogoVar | ||||||
MYL2_chr12_110905845_110925579 | 110906010 | A | AAATATAT others(22): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(8): Show | 47 | 368 | 0.1277 | 29 | c.*50 others(40): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4834 | chr12 | TogoVar | ||||||
MYL2_chr12_110905845_110925579 | 110906048 | A | AATATATA others(22): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 368 | 0.0054 | 29 | c.*50 others(40): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4796 | chr12 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123607420 | T | TTATAATA others(22): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0007 | a0007c0079 | a0007c0079t0006 | a0007c0079t0006g0040 | 1 | 156 | 0.0064 | 29 | c.*66 others(40): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2628 | chr3 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123687616 | A | ATTCCTTC others(22): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02486.hp2 HG03453.hp1 others(6): Show |
a0002a0014a0016others(5): Show | a0002c0002a0014c0075a0016c0034others(6): Show | a0002c0002t0009a0014c0075t0023a0016c0034t0004others(6): Show | a0002c0002t0009g0092a0014c0075t0023g0001a0016c0034t0004g0138others(6): Show | 9 | 156 | 0.0577 | 29 | c.356 others(48): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 19/33 | chr3 | TogoVar |