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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO16_chr13_108624611_109213005 | 109023243 | T | TATATATT others(20): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03486.hp1 |
a0001a0002 | a0001c0045a0002c0001 | a0001c0045t0007a0002c0001t0002 | a0001c0045t0007g0051a0002c0001t0002g0059 | 2 | 152 | 0.0132 | 27 | c.279 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109023274 | T | TATATATT others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00673.hp1 others(12): Show |
a0002a0003a0004others(5): Show | a0002c0001a0002c0009a0002c0053others(7): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(9): Show | a0002c0001t0001g0016a0002c0001t0001g0053a0002c0001t0002g0005others(12): Show | 15 | 152 | 0.0987 | 27 | c.279 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109023305 | T | TATATATT others(20): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01069.hp1 others(15): Show |
a0001a0002a0003others(6): Show | a0001c0067a0002c0001a0003c0004others(8): Show | a0001c0067t0001a0002c0001t0001a0002c0001t0002others(11): Show | a0001c0067t0001g0037a0002c0001t0001g0053a0002c0001t0001g0112others(15): Show | 18 | 152 | 0.1184 | 27 | c.279 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109023510 | T | TATATATT others(20): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0014 | a0014c0057 | a0014c0057t0001 | a0014c0057t0001g0023 | 1 | 152 | 0.0066 | 27 | c.279 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109023709 | A | ATACATAT others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00621.hp2 others(59): Show |
a0002a0004a0005others(9): Show | a0002c0001a0002c0009a0002c0020others(23): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(40): Show | a0002c0001t0001g0016a0002c0001t0001g0053a0002c0001t0001g0060others(59): Show | 62 | 152 | 0.4079 | 27 | c.279 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109163491 | A | ACTCCCTC others(20): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03041.hp1 NA18522.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0018a0001c0005t0001g0069a0001c0005t0001g0110 | 3 | 152 | 0.0197 | 27 | c.516 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109176577 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0035 | 1 | 152 | 0.0066 | 27 | c.532 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25741470 | G | GGGATTAC others(20): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(63): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0005a0001c0006others(52): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(53): Show | a0001c0001t0001g0041a0001c0001t0001g0048a0001c0001t0001g0061others(63): Show | 66 | 228 | 0.2895 | 27 | c.-93 others(36): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 717 | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25999654 | C | CCTCCTCC others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01433.hp2 HG01516.hp1 others(9): Show |
a0004a0006a0008others(6): Show | a0004c0085a0006c0027a0008c0016others(8): Show | a0004c0085t0001a0006c0027t0002a0008c0016t0001others(8): Show | a0004c0085t0001g0108a0006c0027t0002g0104a0008c0016t0001g0012others(9): Show | 12 | 228 | 0.0526 | 27 | c.628 others(46): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 40/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO1B_chr2_191240404_191430386 | 191260254 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0031 | 1 | 170 | 0.0059 | 27 | c.-10 others(46): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO1D_chr17_32487522_32882124 | 32818125 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01175.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0067a0001c0001t0001g0077a0001c0001t0003g0075others(4): Show | 7 | 244 | 0.0287 | 27 | c.96- others(44): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59253901 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0066 | 1 | 226 | 0.0044 | 27 | c.332 others(44): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 4/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59319550 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0013 | 1 | 226 | 0.0044 | 27 | c.4-4 others(42): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543687 | G | GTGGTGCT others(20): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03098.hp2 HG03486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0131a0001c0001t0003g0202a0001c0001t0003g0231others(3): Show | 6 | 342 | 0.0175 | 27 | c.152 others(44): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543795 | G | GTGGTGGT others(20): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 342 | 0.0029 | 27 | c.152 others(44): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543801 | C | CTGGTGCT others(20): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 342 | 0.0029 | 27 | c.152 others(44): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543804 | G | GTGGTGGT others(20): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0158 | 1 | 342 | 0.0029 | 27 | c.152 others(44): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8581130 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0296 | 1 | 342 | 0.0029 | 27 | c.-38 others(38): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 3689 | chr19 | TogoVar | ||||||
MYO1G_chr7_44957662_44984015 | 44961499 | T | TGAGGGCT others(20): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0107 | 1 | 378 | 0.0027 | 27 | c.*12 others(38): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1162 | chr7 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03239.hp2 |
a0001a0015 | a0001c0006a0015c0024 | a0001c0006t0001a0015c0024t0003 | a0001c0006t0001g0301a0015c0024t0003g0146 | 2 | 312 | 0.0064 | 27 | c.194 others(44): 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(20): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0213 | 1 | 312 | 0.0032 | 27 | c.194 others(44): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0152 | 1 | 312 | 0.0032 | 27 | c.194 others(44): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0005a0002c0001 | a0001c0005t0001a0002c0001t0001 | a0001c0005t0001g0251a0002c0001t0001g0154a0002c0001t0001g0165others(1): Show | 4 | 312 | 0.0128 | 27 | c.194 others(44): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAATATAT others(20): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01167.hp2 others(2): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0007a0002c0001t0001 | a0001c0004t0007g0206a0001c0004t0007g0245a0002c0001t0001g0103others(2): Show | 5 | 312 | 0.0160 | 27 | c.194 others(44): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26062530 | A | AAAAAAAC others(20): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(76): Show |
a0001a0004a0006others(4): Show | a0001c0001a0001c0025a0004c0017others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0107a0001c0001t0001g0114others(76): Show | 79 | 280 | 0.2821 | 27 | c.954 others(44): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170650939 | C | CCCAAAGT others(20): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01515.hp2 HG01891.hp2 others(13): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0006a0001c0001t0011a0001c0002t0010others(13): Show | a0001c0001t0006g0134a0001c0001t0011g0039a0001c0002t0010g0138others(13): Show | 16 | 174 | 0.0920 | 27 | c.373 others(44): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0022 | a0001c0001t0001a0001c0001t0009a0001c0003t0004others(1): Show | a0001c0001t0001g0194a0001c0001t0001g0230a0001c0001t0009g0223others(2): Show | 5 | 302 | 0.0166 | 27 | c.220 others(46): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52291731 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18906.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0042a0006c0009t0002 | a0001c0001t0042g0350a0006c0009t0002g0349 | 2 | 360 | 0.0056 | 27 | c.27+ others(42): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75924500 | A | ATATAATA others(20): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01192.hp1 others(12): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0013 | a0001c0001t0003a0001c0001t0020a0001c0001t0029others(6): Show | a0001c0001t0003g0066a0001c0001t0003g0067a0001c0001t0003g0069others(12): Show | 15 | 358 | 0.0419 | 27 | c.*94 others(38): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 4964 | chr6 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0008 | a0008c0009 | a0008c0009t0051 | a0008c0009t0051g0263 | 1 | 308 | 0.0033 | 27 | c.268 others(46): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03130.hp1 NA20905.hp1 |
a0001a0008a0028 | a0001c0001a0008c0009a0028c0034 | a0001c0001t0001a0008c0009t0050a0028c0034t0001 | a0001c0001t0001g0224a0008c0009t0050g0267a0028c0034t0001g0124 | 3 | 308 | 0.0097 | 27 | c.256 others(46): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0192 | 2 | 308 | 0.0065 | 27 | c.256 others(46): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0153a0001c0001t0005g0214 | 2 | 308 | 0.0065 | 27 | c.256 others(46): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71928057 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA19083.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0155a0001c0001t0028g0181 | 2 | 308 | 0.0065 | 27 | c.256 others(46): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71956330 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0010 | 1 | 308 | 0.0033 | 27 | c.218 others(46): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12697360 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA18968.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0085 | a0001c0001t0008g0052a0001c0001t0085g0092 | 2 | 346 | 0.0058 | 27 | c.56- others(42): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93354702 | T | TCTCTCTC others(20): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 | 1 | 240 | 0.0042 | 27 | c.340 others(44): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 31/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93406288 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 240 | 0.0042 | 27 | c.730 others(44): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 7/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93478832 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0089 | 1 | 240 | 0.0042 | 27 | c.88+ others(42): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93483368 | A | ATTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0008 | a0008c0040 | a0008c0040t0007 | a0008c0040t0007g0165 | 1 | 240 | 0.0042 | 27 | c.-11 others(38): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1035 | chr10 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3064534 | T | TTTATATA others(20): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02922.hp1 HG03098.hp2 |
a0004a0040a0059 | a0004c0138a0040c0182a0059c0176 | a0004c0138t0003a0040c0182t0001a0059c0176t0001 | a0004c0138t0003g0201a0040c0182t0001g0016a0059c0176t0001g0177 | 3 | 330 | 0.0091 | 27 | c.*27 others(38): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 2272 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3187893 | G | GCACTGGT others(20): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(6): Show |
a0002a0004a0018 | a0002c0107a0002c0108a0002c0112others(5): Show | a0002c0107t0001a0002c0108t0001a0002c0112t0001others(5): Show | a0002c0107t0001g0034a0002c0108t0001g0033a0002c0112t0001g0153others(6): Show | 9 | 330 | 0.0273 | 27 | c.772 others(42): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 4/37 | chr18 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085468 | G | GCTGTCGT others(20): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0103 | a0001c0103t0001 | a0001c0103t0001g0346 | 1 | 403 | 0.0025 | 27 | c.164 others(43): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2085755 | C | CTACTGTC others(20): Show |
intron_variant | MODIFIER | NA18944.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0014a0002c0088 | a0001c0014t0002a0002c0088t0002 | a0001c0014t0002g0290a0002c0088t0002g0023 | 2 | 403 | 0.0050 | 27 | c.164 others(44): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085944 | T | TGTCGTGA others(20): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0070 | a0002c0070t0001 | a0002c0070t0001g0176 | 1 | 403 | 0.0025 | 27 | c.164 others(44): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2086076 | T | TACTGTCA others(20): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0083 | a0083c0092 | a0083c0092t0001 | a0083c0092t0001g0331 | 1 | 403 | 0.0025 | 27 | c.164 others(44): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2086100 | C | CCCCACTG others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0112 | 1 | 403 | 0.0025 | 27 | c.164 others(44): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2086102 | C | CTACTGTC others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0264 | 1 | 403 | 0.0025 | 27 | c.164 others(44): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086109 | T | TGTGATCT others(20): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0016 | a0016c0075 | a0016c0075t0002 | a0016c0075t0002g0243 | 1 | 403 | 0.0025 | 27 | c.164 others(44): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2086214 | A | ATGATCTC others(20): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0087 | a0087c0081 | a0087c0081t0001 | a0087c0081t0001g0316 | 1 | 403 | 0.0025 | 27 | c.164 others(44): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |