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 | 108997338 | A | AAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 152 | 0.0066 | 22 | c.244 others(41): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109010957 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01261.hp2 NA19074.hp1 |
a0001a0019 | a0001c0017a0019c0029 | a0001c0017t0001a0019c0029t0001 | a0001c0017t0001g0119a0019c0029t0001g0120 | 2 | 152 | 0.0132 | 22 | c.259 others(41): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109040385 | C | CACACAGA others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0048 | 1 | 152 | 0.0066 | 22 | c.279 others(41): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109040385 | C | CACAGAGA others(15): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01943.hp2 others(4): Show |
a0002a0008a0010 | a0002c0001a0002c0051a0008c0058others(1): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0010others(3): Show | a0002c0001t0001g0112a0002c0001t0002g0095a0002c0001t0002g0131others(4): Show | 7 | 152 | 0.0461 | 22 | c.279 others(41): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109040385 | C | CAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02809.hp2 HG03516.hp2 others(1): Show |
a0002a0026 | a0002c0001a0026c0071 | a0002c0001t0001a0002c0001t0003a0002c0001t0019others(1): Show | a0002c0001t0001g0126a0002c0001t0003g0105a0002c0001t0019g0125others(1): Show | 4 | 152 | 0.0263 | 22 | c.279 others(41): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109176577 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0010 | a0010c0012 | a0010c0012t0013 | a0010c0012t0013g0013 | 1 | 152 | 0.0066 | 22 | c.532 others(41): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18A_chr17_29066122_29185398 | 29116613 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01109.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0013others(2): Show | a0001c0001t0001a0002c0004t0005a0002c0004t0006others(7): Show | a0001c0001t0001g0242a0002c0004t0005g0028a0002c0004t0005g0032others(22): Show | 25 | 306 | 0.0817 | 22 | c.203 others(39): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 10/41 | chr17 | TogoVar | ||||||
MYO18A_chr17_29066122_29185398 | 29154121 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0148 | 1 | 306 | 0.0033 | 22 | c.999 others(41): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 2/41 | chr17 | TogoVar | ||||||
MYO18A_chr17_29066122_29185398 | 29154121 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0129 | 1 | 306 | 0.0033 | 22 | c.999 others(41): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 2/41 | chr17 | TogoVar | ||||||
MYO18A_chr17_29066122_29185398 | 29154121 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00642.hp2 NA18947.hp1 NA19012.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0125a0001c0003t0001g0128a0001c0003t0001g0145others(1): Show | 4 | 306 | 0.0131 | 22 | c.999 others(41): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 2/41 | chr17 | TogoVar | ||||||
MYO18A_chr17_29066122_29185398 | 29154121 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG02080.hp2 others(12): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(2): Show | a0001c0003t0001g0123a0001c0003t0001g0143a0001c0003t0001g0149others(12): Show | 15 | 306 | 0.0490 | 22 | c.999 others(41): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 2/41 | chr17 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25882184 | A | AAACCCCT others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(76): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0005a0001c0006others(61): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(61): Show | a0001c0001t0001g0041a0001c0001t0001g0185a0001c0001t0001g0194others(76): Show | 79 | 228 | 0.3465 | 22 | c.431 others(41): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25945984 | C | CCCCCTCC others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG04228.hp2 NA18942.hp1 |
a0001a0003a0013 | a0001c0005a0003c0139a0013c0119 | a0001c0005t0001a0003c0139t0001a0013c0119t0001 | a0001c0005t0001g0181a0003c0139t0001g0021a0013c0119t0001g0020 | 3 | 228 | 0.0132 | 22 | c.551 others(39): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25950518 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01175.hp2 others(8): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0132others(7): Show | a0001c0001t0001a0002c0002t0001a0003c0132t0001others(7): Show | a0001c0001t0001g0048a0002c0002t0001g0083a0003c0132t0001g0130others(8): Show | 11 | 228 | 0.0483 | 22 | c.583 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 37/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO1B_chr2_191240404_191430386 | 191260254 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01192.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0002 | a0001c0001t0002g0045a0001c0001t0002g0076a0001c0001t0009g0081others(9): Show | 12 | 170 | 0.0706 | 22 | c.-10 others(41): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO1B_chr2_191240404_191430386 | 191383473 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02922.hp2 |
a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0162a0001c0005t0006g0164 | 2 | 170 | 0.0118 | 22 | c.135 others(39): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO1D_chr17_32487522_32882124 | 32782934 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 244 | 0.0041 | 22 | c.96- others(37): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32818125 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 244 | 0.0041 | 22 | c.96- others(39): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32874304 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(174): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0014others(174): Show | 177 | 244 | 0.7254 | 22 | c.95+ others(37): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59191332 | C | CAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03098.hp2 NA20129.hp1 |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0006a0001c0004t0017 | a0001c0004t0002g0062a0001c0004t0006g0162a0001c0004t0017g0008 | 3 | 226 | 0.0133 | 22 | c.180 others(41): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 17/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216643 | A | AGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03209.hp1 HG06807.hp2 |
a0001 | a0001c0002a0001c0003a0001c0019 | a0001c0002t0001a0001c0003t0050a0001c0019t0001 | a0001c0002t0001g0128a0001c0003t0050g0136a0001c0019t0001g0156 | 3 | 226 | 0.0133 | 22 | c.110 others(41): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0160 | 1 | 226 | 0.0044 | 22 | c.110 others(41): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02056.hp2 NA19082.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0104a0001c0003t0002g0207a0001c0003t0002g0208 | 3 | 226 | 0.0133 | 22 | c.110 others(41): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03453.hp1 NA18612.hp2 |
a0001 | a0001c0002a0001c0005a0001c0014 | a0001c0002t0040a0001c0005t0024a0001c0014t0002 | a0001c0002t0040g0107a0001c0005t0024g0117a0001c0014t0002g0018 | 3 | 226 | 0.0133 | 22 | c.110 others(41): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59268720 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01243.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0014a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0014g0192a0001c0002t0001g0109a0001c0002t0002g0029others(2): Show | 5 | 226 | 0.0221 | 22 | c.147 others(39): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGAGGGGG others(15): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 226 | 0.0044 | 22 | c.4-1 others(37): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59319550 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03704.hp2 HG03927.hp2 HG03942.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0002a0001c0002t0047others(1): Show | a0001c0001t0003g0101a0001c0002t0002g0105a0001c0002t0047g0102others(1): Show | 4 | 226 | 0.0177 | 22 | c.4-4 others(37): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553892 | A | ACTCTCTC others(15): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0008 | 1 | 342 | 0.0029 | 22 | c.327 others(37): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG02895.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202a0001c0001t0003g0302 | 2 | 342 | 0.0059 | 22 | c.327 others(37): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0253 | 1 | 342 | 0.0029 | 22 | c.327 others(37): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0121 | 1 | 342 | 0.0029 | 22 | c.327 others(37): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 342 | 0.0029 | 22 | c.327 others(37): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574579 | C | CTTTCTTT others(15): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 342 | 0.0029 | 22 | c.3+2 others(35): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8581130 | C | CTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0053a0001c0001t0003g0295 | 2 | 342 | 0.0059 | 22 | c.-38 others(33): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 3689 | chr19 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427907 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0182 | 1 | 312 | 0.0032 | 22 | c.194 others(39): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109443082 | G | GTATGTGT others(15): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0131 | 1 | 312 | 0.0032 | 22 | c.268 others(39): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109443172 | G | GTATGTGT others(15): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0177 | 1 | 312 | 0.0032 | 22 | c.268 others(39): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109443244 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02486.hp1 NA18906.hp1 |
a0001 | a0001c0006a0001c0028 | a0001c0006t0001a0001c0028t0006 | a0001c0006t0001g0286a0001c0028t0006g0294 | 2 | 312 | 0.0064 | 22 | c.268 others(39): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26026112 | C | CGACAGAA others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01168.hp1 others(6): Show |
a0006a0023 | a0006c0006a0023c0037 | a0006c0006t0001a0023c0037t0001 | a0006c0006t0001g0012a0006c0006t0001g0013a0006c0006t0001g0014others(6): Show | 9 | 280 | 0.0321 | 22 | c.798 others(37): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26075613 | T | TATATATG others(15): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0230 | 1 | 280 | 0.0036 | 22 | c.135 others(41): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170174269 | C | CGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0052 | 1 | 174 | 0.0058 | 22 | c.-40 others(33): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 3877 | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170174301 | T | TGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02523.hp1 HG02523.hp2 others(1): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0007c0009others(1): Show | a0001c0001t0001a0003c0003t0003a0007c0009t0003others(1): Show | a0001c0001t0001g0030a0003c0003t0003g0060a0007c0009t0003g0036others(1): Show | 4 | 174 | 0.0230 | 22 | c.-39 others(33): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 3845 | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170489634 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0004 | a0004c0022 | a0004c0022t0005 | a0004c0022t0005g0020 | 1 | 174 | 0.0058 | 22 | c.301 others(41): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01256.hp1 others(21): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0027a0001c0001t0055others(10): Show | a0001c0001t0001g0289a0001c0001t0027g0177a0001c0001t0055g0290others(21): Show | 24 | 302 | 0.0795 | 22 | c.220 others(41): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49965455 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0031 | 1 | 238 | 0.0042 | 22 | c.132 others(41): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 10/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49974779 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG02056.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0058a0001c0001t0007g0063 | 2 | 238 | 0.0084 | 22 | c.105 others(39): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49974798 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01255.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0020others(3): Show | a0001c0001t0001g0074a0001c0001t0001g0102a0001c0002t0001g0210others(4): Show | 7 | 238 | 0.0294 | 22 | c.105 others(39): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 |
a0001a0004 | a0001c0004a0004c0012 | a0001c0004t0004a0004c0012t0004 | a0001c0004t0004g0244a0004c0012t0004g0321 | 2 | 360 | 0.0056 | 22 | c.139 others(37): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02922.hp1 |
a0013 | a0013c0019 | a0013c0019t0027a0013c0019t0028 | a0013c0019t0027g0007a0013c0019t0028g0008 | 2 | 360 | 0.0056 | 22 | c.139 others(37): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 360 | 0.0028 | 22 | c.139 others(37): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar |