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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYL1_chr2_210285150_210320174 | 210308399 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 398 | 0.0025 | -24 | c.133 others(41): Show |
MYL1 | ENSG00000168530.16 | transcript | ENST00000352451.4 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123607891 | TTATATAT others(17): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01255.hp1 HG01346.hp1 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0022a0001c0025a0003c0013others(2): Show | a0001c0022t0018a0001c0022t0021a0001c0025t0018others(4): Show | a0001c0022t0018g0009a0001c0022t0021g0037a0001c0025t0018g0004others(4): Show | 7 | 156 | 0.0449 | -24 | c.*61 others(35): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2157 | chr3 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123607919 | ATATATAT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG03041.hp2 NA20300.hp2 |
a0001a0004a0017 | a0001c0001a0004c0010a0017c0033 | a0001c0001t0036a0004c0010t0035a0017c0033t0054 | a0001c0001t0036g0076a0004c0010t0035g0074a0017c0033t0054g0113 | 3 | 156 | 0.0192 | -24 | c.*61 others(35): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2129 | chr3 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123607921 | ATATATAT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp2 | a0003 | a0003c0007 | a0003c0007t0030 | a0003c0007t0030g0106 | 1 | 156 | 0.0064 | -24 | c.*61 others(35): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2127 | chr3 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123827694 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02723.hp2 HG02976.hp1 others(1): Show |
a0004a0007 | a0004c0010a0004c0018a0007c0071others(1): Show | a0004c0010t0008a0004c0018t0020a0007c0071t0002others(1): Show | a0004c0010t0008g0046a0004c0018t0020g0047a0007c0071t0002g0049others(1): Show | 4 | 156 | 0.0256 | -24 | c.-4+ others(39): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 3/33 | chr3 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16796418 | AAGGAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02965.hp1 others(3): Show |
a0001a0030 | a0001c0001a0001c0015a0001c0034others(2): Show | a0001c0001t0088a0001c0001t0108a0001c0015t0060others(3): Show | a0001c0001t0088g0183a0001c0001t0108g0088a0001c0015t0060g0032others(3): Show | 6 | 272 | 0.0221 | -24 | c.280 others(41): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 3/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16889478 | AGAAGGAA others(17): Show |
A | intron_variant | MODIFIER | HG00741.hp2 NA18954.hp2 NA18982.hp1 |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0004 | a0001c0001t0074a0003c0006t0112a0004c0004t0001 | a0001c0001t0074g0089a0003c0006t0112g0081a0004c0004t0001g0072 | 3 | 272 | 0.0110 | -24 | c.22- others(41): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16891320 | AAAGGAAG others(17): Show |
A | intron_variant | MODIFIER | NA18963.hp2 NA18970.hp1 NA19056.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0053 | a0001c0001t0001a0001c0001t0067a0002c0002t0005others(1): Show | a0001c0001t0001g0099a0001c0001t0067g0027a0002c0002t0005g0043others(1): Show | 4 | 272 | 0.0147 | -24 | c.22- others(41): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16891359 | GGAAGGAA others(17): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02965.hp1 |
a0001a0009 | a0001c0044a0009c0014 | a0001c0044t0044a0009c0014t0115 | a0001c0044t0044g0061a0009c0014t0115g0036 | 2 | 272 | 0.0074 | -24 | c.22- others(41): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108873591 | GGGACAGG others(17): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02109.hp2 HG02523.hp2 others(15): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0008a0001c0010others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(12): Show | a0001c0002t0001g0012a0001c0002t0001g0045a0001c0002t0002g0101others(15): Show | 18 | 152 | 0.1184 | -24 | c.142 others(43): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109008494 | TCTATCTT others(17): Show |
T | intron_variant | MODIFIER | HG03130.hp1 HG03654.hp1 |
a0001a0007 | a0001c0002a0007c0006 | a0001c0002t0002a0007c0006t0001 | a0001c0002t0002g0002a0007c0006t0001g0100 | 2 | 152 | 0.0132 | -24 | c.244 others(41): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25814294 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 |
a0004a0011 | a0004c0041a0011c0088 | a0004c0041t0001a0011c0088t0001 | a0004c0041t0001g0064a0011c0088t0001g0220 | 2 | 228 | 0.0088 | -24 | c.252 others(43): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25947487 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG02965.hp2 others(1): Show |
a0006a0015a0051 | a0006c0049a0015c0025a0051c0064 | a0006c0049t0001a0015c0025t0001a0051c0064t0001 | a0006c0049t0001g0010a0015c0025t0001g0118a0015c0025t0001g0119others(1): Show | 4 | 228 | 0.0175 | -24 | c.563 others(41): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 35/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25948407 | TTTCCTTC others(17): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02717.hp1 HG02886.hp1 others(3): Show |
a0002a0004a0033others(3): Show | a0002c0002a0004c0085a0033c0131others(3): Show | a0002c0002t0001a0004c0085t0001a0033c0131t0001others(3): Show | a0002c0002t0001g0042a0004c0085t0001g0108a0033c0131t0001g0213others(3): Show | 6 | 228 | 0.0263 | -24 | c.574 others(41): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 36/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25990703 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp1 others(29): Show |
a0001a0003a0004others(23): Show | a0001c0001a0003c0134a0004c0007others(26): Show | a0001c0001t0001a0003c0134t0001a0004c0007t0001others(26): Show | a0001c0001t0001g0061a0001c0001t0001g0185a0001c0001t0001g0218others(29): Show | 32 | 228 | 0.1404 | -24 | c.615 others(43): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25999533 | CTCCCCCT others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(96): Show |
a0001a0002a0003others(53): Show | a0001c0001a0001c0005a0001c0006others(84): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(85): Show | a0001c0001t0001g0048a0001c0001t0001g0061a0001c0001t0001g0219others(96): Show | 99 | 228 | 0.4342 | -24 | c.628 others(43): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 40/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO19_chr17_36490636_36539868 | 36518489 | GAAAAAAA others(17): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp2 NA18963.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0052a0003c0003t0001g0055a0003c0003t0001g0057others(4): Show | 7 | 373 | 0.0188 | -24 | c.415 others(41): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | ||||||
MYO19_chr17_36490636_36539868 | 36518505 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01943.hp1 HG02080.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0012 | a0003c0003t0001g0060a0003c0003t0001g0061a0003c0003t0001g0062others(4): Show | 7 | 373 | 0.0188 | -24 | c.415 others(41): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | ||||||
MYO19_chr17_36490636_36539868 | 36518507 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | NA18992.hp2 NA19075.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0053a0003c0003t0001g0054 | 2 | 373 | 0.0054 | -24 | c.415 others(41): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | ||||||
MYO19_chr17_36490636_36539868 | 36518509 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0019 | 1 | 373 | 0.0027 | -24 | c.415 others(41): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | ||||||
MYO1B_chr2_191240404_191430386 | 191399268 | GGGGAGAG others(17): Show |
G | intron_variant | MODIFIER | HG01975.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108a0001c0001t0003g0110 | 2 | 170 | 0.0118 | -24 | c.229 others(43): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO1D_chr17_32487522_32882124 | 32560528 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG00323.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0031 | a0001c0001t0007g0189a0001c0001t0031g0129 | 2 | 244 | 0.0082 | -24 | c.286 others(45): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32632572 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | NA18522.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0096a0001c0001t0007g0171 | 2 | 244 | 0.0082 | -24 | c.270 others(43): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 20/21 | chr17 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32677580 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0189 | 1 | 244 | 0.0041 | -24 | c.212 others(45): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 16/21 | chr17 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32877185 | GTCCCGGC others(17): Show |
G | upstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 244 | 0.0041 | -24 | c.-33 others(33): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 62 | chr17 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59151010 | GACACACA others(17): Show |
G | intron_variant | MODIFIER | HG01952.hp1 HG02027.hp1 HG03942.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0016a0001c0003t0052a0001c0003t0057 | a0001c0003t0016g0039a0001c0003t0016g0040a0001c0003t0016g0084others(2): Show | 5 | 226 | 0.0221 | -24 | c.308 others(43): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 26/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59236369 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 226 | 0.0044 | -24 | c.420 others(39): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 5/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59236405 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0004 | a0001c0004t0030 | a0001c0004t0030g0010 | 1 | 226 | 0.0044 | -24 | c.420 others(39): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 5/27 | chr15 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543684 | GTGGTGGT others(17): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01975.hp2 NA18950.hp1 |
a0001a0004 | a0001c0001a0001c0022a0004c0007 | a0001c0001t0001a0001c0022t0002a0004c0007t0001 | a0001c0001t0001g0128a0001c0022t0002g0130a0004c0007t0001g0015 | 3 | 342 | 0.0088 | -24 | c.152 others(41): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543726 | CTGGTGGT others(17): Show |
C | intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0283 | 1 | 342 | 0.0029 | -24 | c.152 others(41): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543852 | GTGGTGCT others(17): Show |
G | intron_variant | MODIFIER | HG01978.hp1 HG02056.hp1 HG03654.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0140a0001c0001t0001g0177a0001c0001t0002g0073others(7): Show | 10 | 342 | 0.0292 | -24 | c.152 others(41): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543984 | CTGGTGGT others(17): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 | 1 | 342 | 0.0029 | -24 | c.152 others(41): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543988 | TGGTGGTG others(17): Show |
T | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0004 | 1 | 342 | 0.0029 | -24 | c.152 others(41): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574595 | CTCTTTCT others(17): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0001 | a0001c0001t0002g0050a0001c0009t0001g0049a0001c0009t0001g0051 | 3 | 342 | 0.0088 | -24 | c.3+2 others(37): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26019217 | CTATTTAT others(17): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0011 | a0011c0012 | a0011c0012t0002 | a0011c0012t0002g0004 | 1 | 280 | 0.0036 | -24 | c.586 others(41): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 7/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26045366 | TTAGATAG others(17): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0029 | a0029c0033 | a0029c0033t0001 | a0029c0033t0001g0269 | 1 | 280 | 0.0036 | -24 | c.953 others(43): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26164126 | AAGTGATG others(17): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219a0001c0001t0002g0220 | 2 | 280 | 0.0071 | -24 | c.300 others(43): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170234174 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02897.hp1 | a0033 | a0033c0040 | a0033c0040t0001 | a0033c0040t0001g0154 | 1 | 174 | 0.0058 | -24 | c.604 others(41): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170343030 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02572.hp1 others(2): Show |
a0001a0006a0020others(2): Show | a0001c0002a0006c0058a0020c0038others(2): Show | a0001c0002t0001a0006c0058t0022a0020c0038t0001others(2): Show | a0001c0002t0001g0155a0006c0058t0022g0129a0020c0038t0001g0139others(2): Show | 5 | 174 | 0.0287 | -24 | c.815 others(41): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170649110 | AAATAATA others(17): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0009 | a0009c0020 | a0009c0020t0003 | a0009c0020t0003g0064 | 1 | 174 | 0.0058 | -24 | c.373 others(43): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO5B_chr18_49817789_50200147 | 49954024 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | NA18944.hp1 NA18948.hp2 |
a0003 | a0003c0012 | a0003c0012t0003 | a0003c0012t0003g0096a0003c0012t0003g0181 | 2 | 238 | 0.0084 | -24 | c.166 others(41): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 13/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50093208 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0019 | a0001c0002t0001g0127a0001c0002t0001g0144a0001c0002t0019g0137 | 3 | 238 | 0.0126 | -24 | c.28- others(41): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52190778 | TAAAAAAA others(17): Show |
T | downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0238 | 1 | 360 | 0.0028 | -24 | c.*31 others(35): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1543 | chr15 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75787676 | TTCTCTCT others(17): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0074 | a0001c0001t0016g0128a0001c0001t0074g0138 | 2 | 358 | 0.0056 | -24 | c.-47 others(43): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO6_chr6_75744239_75924537 | 75787708 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0294 | 1 | 358 | 0.0028 | -24 | c.-47 others(43): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO6_chr6_75744239_75924537 | 75787710 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0137 | 1 | 358 | 0.0028 | -24 | c.-47 others(43): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO6_chr6_75744239_75924537 | 75787712 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp1 NA18966.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0002 | a0001c0001t0012g0041a0001c0002t0002g0249 | 2 | 358 | 0.0056 | -24 | c.-47 others(43): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO9A_chr15_71817291_72123150 | 71849690 | TATTAAGA others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp2 others(73): Show |
a0001a0011a0019others(5): Show | a0001c0001a0011c0015a0019c0023others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(11): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0114others(73): Show | 76 | 308 | 0.2468 | -24 | c.671 others(41): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 38/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71925149 | TCACATAT others(17): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG02071.hp2 others(41): Show |
a0002a0003a0005others(3): Show | a0002c0003a0003c0004a0005c0006others(3): Show | a0002c0003t0003a0002c0003t0009a0002c0003t0010others(9): Show | a0002c0003t0003g0236a0002c0003t0003g0237a0002c0003t0003g0241others(41): Show | 44 | 308 | 0.1429 | -24 | c.256 others(43): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17090118 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01978.hp1 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0038 | 3 | 262 | 0.0115 | -24 | c.-58 others(43): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |