| 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 | 109083383 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0119 | 1 | 152 | 0.0066 | -17 | c.333 others(38): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MYO16_chr13_108624611_109213005 | 109117345 | GATGCAAA others(10): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02615.hp2 others(11): Show |
a0001a0002a0006others(2): Show | a0001c0002a0001c0016a0001c0065others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0016t0001others(10): Show | a0001c0002t0001g0034a0001c0002t0001g0045a0001c0002t0002g0090others(11): Show | 14 | 152 | 0.0921 | -17 | c.343 others(36): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MYO18A_chr17_29066122_29185398 | 29116092 | GCTGCAAA others(10): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp1 HG03139.hp1 others(3): Show |
a0002 | a0002c0008 | a0002c0008t0003a0002c0008t0033 | a0002c0008t0003g0022a0002c0008t0003g0205a0002c0008t0003g0206others(3): Show | 6 | 306 | 0.0196 | -17 | c.205 others(34): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 11/41 | chr17 | TogoVar | ||||||
| MYO18B_chr22_25737188_26036045 | 25780590 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02630.hp2 others(3): Show |
a0004a0009a0014others(3): Show | a0004c0073a0009c0044a0014c0045others(3): Show | a0004c0073t0001a0009c0044t0002a0014c0045t0001others(3): Show | a0004c0073t0001g0226a0009c0044t0002g0072a0014c0045t0001g0067others(3): Show | 6 | 228 | 0.0263 | -17 | c.221 others(34): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MYO18B_chr22_25737188_26036045 | 25780610 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01516.hp1 | a0048 | a0048c0066 | a0048c0066t0001 | a0048c0066t0001g0222 | 1 | 228 | 0.0044 | -17 | c.221 others(34): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MYO18B_chr22_25737188_26036045 | 25814294 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG04199.hp1 HG04199.hp2 others(2): Show |
a0005a0007a0008others(2): Show | a0005c0031a0007c0003a0008c0092others(2): Show | a0005c0031t0001a0007c0003t0001a0008c0092t0001others(2): Show | a0005c0031t0001g0022a0007c0003t0001g0177a0008c0092t0001g0078others(2): Show | 5 | 228 | 0.0219 | -17 | c.252 others(36): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MYO18B_chr22_25737188_26036045 | 25931674 | CTTTTTTC others(10): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0065 | a0065c0081 | a0065c0081t0002 | a0065c0081t0002g0016 | 1 | 228 | 0.0044 | -17 | c.551 others(38): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MYO18B_chr22_25737188_26036045 | 25945683 | TCCTCTCC others(10): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02809.hp2 HG03225.hp2 others(1): Show |
a0029a0039a0060others(1): Show | a0029c0046a0039c0109a0060c0078others(1): Show | a0029c0046t0005a0039c0109t0001a0060c0078t0001others(1): Show | a0029c0046t0005g0069a0039c0109t0001g0140a0060c0078t0001g0227others(1): Show | 4 | 228 | 0.0175 | -17 | c.551 others(34): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MYO18B_chr22_25737188_26036045 | 25946003 | CCCTCCCC others(10): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02257.hp1 others(6): Show |
a0008a0009a0028others(5): Show | a0008c0092a0009c0060a0028c0052others(5): Show | a0008c0092t0001a0009c0060t0002a0028c0052t0001others(5): Show | a0008c0092t0001g0078a0009c0060t0002g0065a0028c0052t0001g0106others(6): Show | 9 | 228 | 0.0395 | -17 | c.551 others(32): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MYO19_chr17_36490636_36539868 | 36518512 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0300 | 1 | 373 | 0.0027 | -17 | c.415 others(34): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | ||||||
| MYO19_chr17_36490636_36539868 | 36518514 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0306 | 1 | 373 | 0.0027 | -17 | c.415 others(34): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | ||||||
| MYO19_chr17_36490636_36539868 | 36518516 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0328 | 1 | 373 | 0.0027 | -17 | c.415 others(34): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | ||||||
| MYO1B_chr2_191240404_191430386 | 191372139 | GAGCAGGG others(10): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp2 HG02145.hp2 others(16): Show |
a0001a0005 | a0001c0005a0001c0006a0005c0020 | a0001c0005t0001a0001c0005t0004a0001c0005t0005others(4): Show | a0001c0005t0001g0051a0001c0005t0001g0157a0001c0005t0004g0088others(16): Show | 19 | 170 | 0.1118 | -17 | c.118 others(36): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO1B_chr2_191240404_191430386 | 191372879 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0079 | 1 | 170 | 0.0059 | -17 | c.118 others(36): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO1D_chr17_32487522_32882124 | 32566963 | CAGAACGG others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(107): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0061others(107): Show | 110 | 244 | 0.4508 | -17 | c.286 others(38): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
| MYO1D_chr17_32487522_32882124 | 32673090 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01433.hp1 HG02523.hp2 others(3): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0005a0008c0010t0002 | a0001c0001t0001g0064a0001c0001t0001g0071a0001c0001t0001g0078others(3): Show | 6 | 244 | 0.0246 | -17 | c.212 others(38): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 16/21 | chr17 | TogoVar | ||||||
| MYO1D_chr17_32487522_32882124 | 32851728 | TCTCATAA others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(70): Show |
a0001a0005a0006 | a0001c0001a0001c0012a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0048a0001c0001t0001g0050others(70): Show | 73 | 244 | 0.2992 | -17 | c.95+ others(34): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
| MYO1E_chr15_59127434_59377871 | 59319550 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 226 | 0.0044 | -17 | c.4-4 others(32): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8543845 | GGTGGTGG others(10): Show |
G | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 342 | 0.0029 | -17 | c.152 others(34): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8543866 | GCTGGTGG others(10): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 342 | 0.0029 | -17 | c.152 others(34): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| MYO1G_chr7_44957662_44984015 | 44961051 | GGGCTGAG others(10): Show |
G | downstream_gene_variant | MODIFIER | NA18939.hp1 NA19000.hp1 NA19055.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 4 | 378 | 0.0106 | -17 | c.*16 others(28): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1610 | chr7 | TogoVar | ||||||
| MYO1G_chr7_44957662_44984015 | 44961669 | GGAGGCTG others(10): Show |
G | downstream_gene_variant | MODIFIER | HG02723.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041a0001c0002t0001g0042 | 2 | 378 | 0.0053 | -17 | c.*10 others(28): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 992 | chr7 | TogoVar | ||||||
| MYO1G_chr7_44957662_44984015 | 44962004 | GGGGCTGA others(10): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG01069.hp1 others(45): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0012others(23): Show | 48 | 378 | 0.1270 | -17 | c.*71 others(26): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 657 | chr7 | TogoVar | ||||||
| MYO1H_chr12_109342900_109453379 | 109421259 | TGAACAAG others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(49): Show |
a0001a0003a0013 | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(12): Show | a0001c0003t0001g0001a0001c0003t0001g0066a0001c0003t0001g0248others(48): Show | 52 | 312 | 0.1667 | -17 | c.164 others(34): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYO3B_chr2_170173147_170660167 | 170234176 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0027 | a0027c0068 | a0027c0068t0017 | a0027c0068t0017g0115 | 1 | 174 | 0.0058 | -17 | c.604 others(34): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO3B_chr2_170173147_170660167 | 170234181 | AAAAAAAC others(10): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03209.hp1 HG03225.hp2 |
a0001a0002a0009 | a0001c0005a0002c0006a0009c0016 | a0001c0005t0004a0002c0006t0013a0009c0016t0004 | a0001c0005t0004g0112a0002c0006t0013g0006a0009c0016t0004g0084 | 3 | 174 | 0.0172 | -17 | c.604 others(34): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO3B_chr2_170173147_170660167 | 170399254 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 |
a0006a0021 | a0006c0021a0021c0035 | a0006c0021t0025a0021c0035t0008 | a0006c0021t0025g0082a0021c0035t0008g0085 | 2 | 174 | 0.0115 | -17 | c.179 others(34): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO5B_chr18_49817789_50200147 | 50030876 | GAAAAAAA others(10): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG02895.hp2 NA19240.hp2 |
a0002a0008 | a0002c0035a0008c0025 | a0002c0035t0011a0008c0025t0002a0008c0025t0006 | a0002c0035t0011g0227a0008c0025t0002g0106a0008c0025t0006g0215 | 3 | 238 | 0.0126 | -17 | c.455 others(34): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 4/39 | chr18 | TogoVar | ||||||
| MYO5B_chr18_49817789_50200147 | 50122633 | GGGAGAGA others(10): Show |
G | intron_variant | MODIFIER | HG02965.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0225a0001c0001t0006g0226 | 2 | 238 | 0.0084 | -17 | c.28- others(34): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
| MYO5B_chr18_49817789_50200147 | 50122635 | GAGAGAGA others(10): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG02723.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0013a0002c0003others(4): Show | a0001c0001t0001a0001c0013t0007a0002c0003t0002others(4): Show | a0001c0001t0001g0113a0001c0001t0001g0146a0001c0013t0007g0076others(6): Show | 9 | 238 | 0.0378 | -17 | c.28- others(34): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
| MYO5B_chr18_49817789_50200147 | 50145497 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG02976.hp2 HG03540.hp2 others(2): Show |
a0001a0004a0014others(1): Show | a0001c0001a0001c0002a0004c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0004c0007t0004others(2): Show | a0001c0001t0001g0146a0001c0002t0001g0025a0004c0007t0004g0031others(2): Show | 5 | 238 | 0.0210 | -17 | c.27+ others(34): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
| MYO5C_chr15_52187322_52300804 | 52190778 | TAAAAAAA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01255.hp1 HG01361.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0018others(8): Show | a0001c0001t0002g0183a0001c0001t0002g0202a0001c0001t0002g0204others(17): Show | 20 | 360 | 0.0556 | -17 | c.*31 others(28): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1543 | chr15 | TogoVar | ||||||
| MYO5C_chr15_52187322_52300804 | 52232159 | AAGGAAGG others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(95): Show |
a0001a0004a0006others(6): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0042a0001c0003t0003a0001c0003t0004others(35): Show | a0001c0001t0042g0350a0001c0003t0003g0018a0001c0003t0003g0024others(94): Show | 98 | 360 | 0.2722 | -17 | c.302 others(34): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 24/40 | chr15 | TogoVar | ||||||
| MYO7A_chr11_77123246_77220241 | 77181767 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0068 | a0001c0068t0001 | a0001c0068t0001g0333 | 1 | 356 | 0.0028 | -17 | c.290 others(34): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 23/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MYO7B_chr2_127530683_127642726 | 127563503 | TCCTGCAA others(10): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0031 | a0031c0057 | a0031c0057t0001 | a0031c0057t0001g0076 | 1 | 282 | 0.0036 | -17 | c.19- others(30): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 2/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO9A_chr15_71817291_72123150 | 71827658 | ATTATATT others(10): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0209 | 1 | 308 | 0.0033 | -17 | c.718 others(34): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 41/41 | chr15 | TogoVar | ||||||
| MYO9A_chr15_71817291_72123150 | 72095069 | TTCAAATG others(10): Show |
T | intron_variant | MODIFIER | NA18978.hp2 | a0002 | a0002c0003 | a0002c0003t0027 | a0002c0003t0027g0262 | 1 | 308 | 0.0033 | -17 | c.-72 others(36): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
| MYO9B_chr19_17070777_17218286 | 17090118 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01975.hp1 HG01993.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0020a0001c0001t0001g0023a0001c0001t0001g0028others(1): Show | 4 | 262 | 0.0153 | -17 | c.-58 others(36): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MYOCD_chr17_12660890_12773949 | 12693623 | TAGAATAA others(10): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02965.hp2 others(3): Show |
a0001a0017 | a0001c0001a0001c0006a0017c0020 | a0001c0001t0001a0001c0001t0010a0001c0006t0015others(1): Show | a0001c0001t0001g0261a0001c0001t0001g0343a0001c0001t0010g0230others(3): Show | 6 | 346 | 0.0173 | -17 | c.56- others(34): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MYOF_chr10_93301429_93487334 | 93483195 | CTTTTCTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp2 NA18995.hp2 NA19012.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0125a0001c0001t0001g0146a0001c0003t0001g0135others(1): Show | 4 | 240 | 0.0167 | -17 | c.-10 others(28): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 862 | chr10 | TogoVar | ||||||
| MYOM1_chr18_3061807_3224968 | 3085229 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01891.hp2 HG02809.hp1 others(3): Show |
a0002a0003a0004others(2): Show | a0002c0108a0003c0004a0004c0110others(3): Show | a0002c0108t0001a0003c0004t0003a0004c0110t0001others(3): Show | a0002c0108t0001g0033a0003c0004t0003g0247a0004c0110t0001g0001others(3): Show | 6 | 330 | 0.0182 | -17 | c.425 others(33): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 30/37 | chr18 | TogoVar | ||||||
| MYOM3_chr1_24051041_24117135 | 24113319 | TCTTTCTT others(10): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01346.hp1 others(11): Show |
a0001a0003a0004others(8): Show | a0001c0002a0003c0003a0004c0004others(8): Show | a0001c0002t0001a0003c0003t0001a0004c0004t0001others(8): Show | a0001c0002t0001g0273a0003c0003t0001g0288a0003c0003t0001g0302others(11): Show | 14 | 364 | 0.0385 | -17 | c.-13 others(28): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 1185 | chr1 | TogoVar | ||||||
| MYPN_chr10_68104488_68217017 | 68168991 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0161 | 1 | 306 | 0.0033 | -17 | c.197 others(36): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MYRFL_chr12_69820227_69964097 | 69890265 | CTAAAGGA others(10): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01070.hp2 others(10): Show |
a0003a0006a0007others(1): Show | a0003c0006a0006c0009a0007c0010others(1): Show | a0003c0006t0001a0006c0009t0001a0006c0009t0002others(4): Show | a0003c0006t0001g0095a0006c0009t0001g0225a0006c0009t0002g0321others(10): Show | 13 | 322 | 0.0404 | -17 | c.708 others(32): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYRFL_chr12_69820227_69964097 | 69936078 | GTTTTTTT others(10): Show |
G | splice_region_variant others(1): Show |
LOW | HG02970.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0090 | 1 | 322 | 0.0031 | -17 | c.191 others(31): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYRIP_chr3_39804609_40265321 | 39865345 | TTAACAGA others(10): Show |
T | intron_variant | MODIFIER | HG02683.hp2 HG02698.hp2 |
a0001a0005 | a0001c0002a0005c0013 | a0001c0002t0002a0005c0013t0010 | a0001c0002t0002g0077a0005c0013t0010g0078 | 2 | 170 | 0.0118 | -17 | c.-30 others(36): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MYRIP_chr3_39804609_40265321 | 40218598 | CATATATA others(10): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 170 | 0.0059 | -17 | c.190 others(36): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MYSM1_chr1_58649743_58705062 | 58690568 | ATCAAGCT others(10): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01255.hp2 others(13): Show |
a0004 | a0004c0004 | a0004c0004t0003a0004c0004t0012a0004c0004t0031others(4): Show | a0004c0004t0003g0349a0004c0004t0012g0365a0004c0004t0012g0366others(12): Show | 16 | 410 | 0.0390 | -17 | c.219 others(32): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 3/19 | chr1 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64201949 | TGCGTGTC others(10): Show |
T | intron_variant | MODIFIER | HG02165.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0173a0001c0001t0002g0142 | 2 | 223 | 0.0090 | -17 | c.86+ others(32): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYZAP_chr15_57586904_57690364 | 57627393 | GAGGGGGA others(10): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019 | a0001c0001t0008g0330a0001c0001t0019g0327 | 2 | 352 | 0.0057 | -17 | c.525 others(34): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |