view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO3A_chr10_25929229_26217532 | 26126806 | CATATACT others(2): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02965.hp2 others(1): Show |
a0007 | a0007c0007 | a0007c0007t0008 | a0007c0007t0008g0006 a0007c0007t0008g0007 a0007c0007t0008g0008 others(1): Show |
4 | 280 | 0.0143 | -9 | c.211 others(28): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170311422 | TGTCTATT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01192.hp2 HG01361.hp1 others(16): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(15): Show | a0001c0001t0006a0001c0004t0009a0001c0005t0004others(15): Show | a0001c0001t0006g0134 a0001c0004t0009g0002 a0001c0005t0004g0112 others(16): Show |
19 | 174 | 0.1092 | -9 | c.750 others(28): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 7/34 | chr2 | TogoVar | |||||||
MYO3B_chr2_170173147_170660167 | 170416623 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(42): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(35): Show | a0001c0001t0001g0030 a0001c0001t0003g0035 a0001c0001t0005g0042 others(42): Show |
45 | 174 | 0.2586 | -9 | c.265 others(28): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170416818 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(91): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0002a0001c0004others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0041 others(91): Show |
94 | 174 | 0.5402 | -9 | c.265 others(28): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170537448 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02083.hp1 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0010a0003c0003others(2): Show | a0001c0005t0003a0002c0010t0001a0003c0003t0002others(2): Show | a0001c0005t0003g0097 a0002c0010t0001g0108 a0003c0003t0002g0058 others(2): Show |
5 | 174 | 0.0287 | -9 | c.357 others(28): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170641856 | AGTGGGGG others(2): Show |
A | intron_variant | MODIFIER | HG02135.hp1 HG02976.hp1 NA18957.hp1 others(4): Show |
a0001a0002a0024 | a0001c0001a0001c0005a0002c0008others(3): Show | a0001c0001t0003a0001c0005t0001a0002c0008t0003others(3): Show | a0001c0001t0003g0035 a0001c0005t0001g0095 a0002c0008t0003g0027 others(4): Show |
7 | 174 | 0.0402 | -9 | c.373 others(28): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52314695 | AAAAGATC others(2): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG02109.hp1 others(34): Show |
a0001a0003a0004others(1): Show | a0001c0006a0003c0005a0003c0011others(4): Show | a0001c0006t0011a0003c0005t0007a0003c0005t0019others(14): Show | a0001c0006t0011g0059 a0001c0006t0011g0258 a0001c0006t0011g0259 others(33): Show |
37 | 302 | 0.1225 | -9 | c.541 others(26): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 40/41 | chr15 | TogoVar | |||||||
MYO5A_chr15_52302283_52533880 | 52324002 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp2 others(61): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0019a0001c0023others(3): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0022others(21): Show | a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0145 others(61): Show |
64 | 302 | 0.2119 | -9 | c.471 others(26): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 36/41 | chr15 | TogoVar | |||||||
MYO5A_chr15_52302283_52533880 | 52371878 | GTAATAAT others(2): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG00738.hp2 others(52): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0010others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0006others(11): Show | a0001c0001t0001g0199 a0001c0001t0001g0202 a0002c0002t0002g0081 others(52): Show |
55 | 302 | 0.1821 | -9 | c.281 others(26): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 21/41 | chr15 | TogoVar | |||||||
MYO5A_chr15_52302283_52533880 | 52531037 | ATTTTTGT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(36): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0023a0001c0001t0061a0001c0003t0004others(13): Show | a0001c0001t0023g0010 a0001c0001t0061g0016 a0001c0003t0004g0040 others(36): Show |
39 | 302 | 0.1291 | -9 | c.-22 others(20): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 2158 | chr15 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49895396 | TTCAAAGA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(58): Show |
a0002a0004a0009others(8): Show | a0002c0003a0002c0009a0002c0010others(21): Show | a0002c0003t0002a0002c0003t0008a0002c0003t0020others(28): Show | a0002c0003t0002g0010 a0002c0003t0002g0107 a0002c0003t0002g0133 others(58): Show |
61 | 238 | 0.2563 | -9 | c.281 others(26): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 21/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49941995 | ATCTATGT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(112): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0013others(38): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0024others(56): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0033 others(112): Show |
115 | 238 | 0.4832 | -9 | c.175 others(28): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 14/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50086384 | ATATACTA others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02572.hp2 others(8): Show |
a0001a0002a0010others(1): Show | a0001c0002a0002c0003a0002c0005others(6): Show | a0001c0002t0006a0001c0002t0011a0002c0003t0033others(7): Show | a0001c0002t0006g0231 a0001c0002t0011g0230 a0002c0003t0033g0235 others(8): Show |
11 | 238 | 0.0462 | -9 | c.28- others(26): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50122635 | GAGAGAGA others(2): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp2 |
a0001a0002 | a0001c0002a0002c0051 | a0001c0002t0011a0002c0051t0017 | a0001c0002t0011g0230 a0002c0051t0017g0232 |
2 | 238 | 0.0084 | -9 | c.28- others(26): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50145497 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG02723.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0044others(4): Show | a0001c0001t0024a0001c0002t0002a0002c0044t0021others(4): Show | a0001c0001t0024g0004 a0001c0002t0002g0060 a0002c0044t0021g0002 others(4): Show |
7 | 238 | 0.0294 | -9 | c.27+ others(26): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52234985 | ATCACCAG others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(128): Show |
a0001a0003a0005others(12): Show | a0001c0001a0001c0006a0001c0034others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0222 others(126): Show |
131 | 360 | 0.3639 | -9 | c.296 others(26): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 23/40 | chr15 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52255828 | GGTATACA others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 a0001c0001t0004g0156 a0001c0001t0004g0157 others(3): Show |
7 | 360 | 0.0194 | -9 | c.139 others(26): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | |||||||
MYO6_chr6_75744239_75924537 | 75794731 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00673.hp2 others(26): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0009a0001c0001t0018a0001c0001t0028others(16): Show | a0001c0001t0009g0319 a0001c0001t0009g0321 a0001c0001t0009g0322 others(26): Show |
29 | 358 | 0.0810 | -9 | c.-47 others(28): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYO7B_chr2_127530683_127642726 | 127639868 | GCCTGGGG others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02630.hp2 others(4): Show |
a0001a0004a0022others(1): Show | a0001c0005a0001c0017a0004c0007others(2): Show | a0001c0005t0003a0001c0017t0004a0004c0007t0003others(2): Show | a0001c0005t0003g0046 a0001c0017t0004g0021 a0001c0017t0004g0022 others(4): Show |
7 | 282 | 0.0248 | -9 | c.*24 others(20): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 2143 | chr2 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71850765 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01109.hp1 HG01257.hp2 others(11): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0005a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0005g0120 others(11): Show |
14 | 308 | 0.0455 | -9 | c.658 others(26): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 37/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71956742 | GTAGCATA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(94): Show |
a0001a0005a0006others(6): Show | a0001c0002a0005c0005a0006c0007others(6): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(26): Show | a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0022 others(94): Show |
97 | 308 | 0.3149 | -9 | c.218 others(28): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72077747 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01358.hp1 others(3): Show |
a0001a0006 | a0001c0002a0006c0007 | a0001c0002t0004a0001c0002t0016a0001c0002t0038others(2): Show | a0001c0002t0004g0069 a0001c0002t0004g0082 a0001c0002t0016g0081 others(3): Show |
6 | 308 | 0.0195 | -9 | c.-71 others(28): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72103414 | CAGCAGCA others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02895.hp2 HG03195.hp2 others(1): Show |
a0010a0024 | a0010c0012a0024c0027 | a0010c0012t0011a0024c0027t0011 | a0010c0012t0011g0289 a0010c0012t0011g0298 a0010c0012t0011g0299 others(1): Show |
4 | 308 | 0.0130 | -9 | c.-72 others(28): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72103504 | GGCAGCAG others(2): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01496.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0054a0001c0001t0055 | a0001c0001t0053g0004 a0001c0001t0054g0005 a0001c0001t0055g0006 |
3 | 308 | 0.0097 | -9 | c.-72 others(28): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO9B_chr19_17070777_17218286 | 17094015 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(39): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0003a0001c0009others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(15): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(39): Show |
42 | 262 | 0.1603 | -9 | c.-58 others(26): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17170647 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(84): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(24): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 others(84): Show |
87 | 262 | 0.3321 | -9 | c.179 others(28): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 11/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12716985 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00642.hp1 others(70): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(61): Show | a0001c0001t0001g0027 a0001c0001t0001g0051 a0001c0001t0001g0155 others(69): Show |
73 | 346 | 0.2110 | -9 | c.178 others(24): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYOC_chr1_171630417_171657688 | 171635074 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01069.hp1 HG02055.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0001a0001c0008t0001a0001c0012t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0037 others(5): Show |
9 | 434 | 0.0207 | -9 | c.*84 others(18): Show |
MYOC | ENSG00000034971.17 | transcript | ENST00000037502.11 | protein_coding | 342 | chr1 | TogoVar | |||||||
MYOC_chr1_171630417_171657688 | 171643968 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp2 others(29): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0033 others(15): Show |
32 | 434 | 0.0737 | -9 | c.605 others(26): Show |
MYOC | ENSG00000034971.17 | transcript | ENST00000037502.11 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93395622 | GGCTATCA others(2): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG02055.hp1 others(14): Show |
a0001a0004a0020others(1): Show | a0001c0001a0001c0003a0001c0012others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0001t0001g0030 a0001c0003t0001g0086 a0001c0003t0002g0173 others(14): Show |
17 | 240 | 0.0708 | -9 | c.141 others(26): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 16/53 | chr10 | TogoVar | |||||||
MYOG_chr1_203078129_203091012 | 203078752 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01515.hp1 HG02976.hp1 others(4): Show |
a0001a0008a0009 | a0001c0001a0008c0011a0009c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0046 a0001c0001t0005g0005 a0001c0001t0005g0044 others(4): Show |
7 | 460 | 0.0152 | -9 | c.*51 others(20): Show |
MYOG | ENSG00000122180.5 | transcript | ENST00000241651.5 | protein_coding | 4376 | chr1 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3083412 | TTTCTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03098.hp1 HG03139.hp2 others(2): Show |
a0016a0024a0038others(2): Show | a0016c0162a0024c0144a0038c0165others(2): Show | a0016c0162t0001a0024c0144t0001a0038c0165t0003others(2): Show | a0016c0162t0001g0024 a0024c0144t0001g0021 a0038c0165t0003g0152 others(2): Show |
5 | 330 | 0.0152 | -9 | c.448 others(26): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 33/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3085229 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp2 HG02976.hp2 others(3): Show |
a0011a0016a0024others(1): Show | a0011c0042a0011c0137a0016c0169others(2): Show | a0011c0042t0003a0011c0042t0007a0011c0137t0007others(3): Show | a0011c0042t0003g0023 a0011c0042t0007g0020 a0011c0137t0007g0159 others(3): Show |
6 | 330 | 0.0182 | -9 | c.425 others(25): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 30/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3157680 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00735.hp2 others(9): Show |
a0002a0004a0009others(5): Show | a0002c0115a0002c0124a0004c0045others(7): Show | a0002c0115t0003a0002c0124t0002a0004c0045t0001others(8): Show | a0002c0115t0003g0218 a0002c0124t0002g0069 a0004c0045t0001g0031 others(9): Show |
12 | 330 | 0.0364 | -9 | c.150 others(28): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 10/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3177441 | ATATCATT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02970.hp1 HG03579.hp1 others(2): Show |
a0004a0009a0024others(1): Show | a0004c0149a0004c0150a0009c0175others(2): Show | a0004c0149t0008a0004c0150t0001a0009c0175t0001others(2): Show | a0004c0149t0008g0164 a0004c0150t0001g0144 a0009c0175t0001g0117 others(2): Show |
5 | 330 | 0.0152 | -9 | c.930 others(26): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 5/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3177479 | ATTATTAT others(2): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02897.hp2 NA20129.hp2 |
a0002a0016 | a0002c0108a0002c0117a0016c0191 | a0002c0108t0001a0002c0117t0001a0016c0191t0009 | a0002c0108t0001g0034 a0002c0117t0001g0078 a0016c0191t0009g0038 |
3 | 330 | 0.0091 | -9 | c.930 others(26): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 5/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2057998 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01168.hp2 others(22): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0013others(13): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(15): Show | a0001c0002t0001g0324 a0001c0002t0002g0371 a0001c0003t0001g0372 others(21): Show |
25 | 403 | 0.0620 | -9 | c.560 others(24): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM3_chr1_24051041_24117135 | 24113327 | TCTTTCTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01884.hp1 HG02074.hp1 others(25): Show |
a0001a0002a0003others(15): Show | a0001c0002a0002c0001a0003c0003others(15): Show | a0001c0002t0001a0002c0001t0001a0003c0003t0001others(15): Show | a0001c0002t0001g0256 a0001c0002t0001g0277 a0001c0002t0001g0280 others(25): Show |
28 | 364 | 0.0769 | -9 | c.-13 others(20): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 1193 | chr1 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119168683 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0184 a0001c0001t0001g0196 others(3): Show |
6 | 394 | 0.0152 | -9 | c.560 others(26): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MYPN_chr10_68104488_68217017 | 68169181 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00609.hp2 others(90): Show |
a0002a0004a0010others(9): Show | a0002c0002a0004c0005a0010c0033others(12): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(24): Show | a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0033 others(88): Show |
93 | 306 | 0.3039 | -9 | c.197 others(28): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYPN_chr10_68104488_68217017 | 68182408 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03139.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0003a0001c0001t0006a0005c0010t0002 | a0001c0001t0003g0041 a0001c0001t0006g0229 a0005c0010t0002g0234 others(1): Show |
4 | 306 | 0.0131 | -9 | c.270 others(28): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYPN_chr10_68104488_68217017 | 68182417 | CATATATA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01167.hp1 others(37): Show |
a0002a0004a0007others(4): Show | a0002c0002a0004c0005a0007c0027others(4): Show | a0002c0002t0001a0002c0002t0002a0004c0005t0001others(6): Show | a0002c0002t0001g0033 a0002c0002t0001g0152 a0002c0002t0001g0205 others(36): Show |
40 | 306 | 0.1307 | -9 | c.270 others(28): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYPN_chr10_68104488_68217017 | 68203481 | CAGGAGGC others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00735.hp1 others(33): Show |
a0001a0003a0018 | a0001c0001a0001c0003a0001c0023others(3): Show | a0001c0001t0003a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0001t0003g0015 a0001c0001t0003g0118 a0001c0001t0003g0183 others(33): Show |
36 | 306 | 0.1177 | -9 | c.365 others(28): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 39945483 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01884.hp1 HG02015.hp2 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0057 others(22): Show |
25 | 170 | 0.1471 | -9 | c.110 others(28): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40040985 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01884.hp1 HG02040.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0017others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0059 others(20): Show |
23 | 170 | 0.1353 | -9 | c.111 others(26): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40218603 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00735.hp2 others(29): Show |
a0001a0003 | a0001c0002a0001c0006a0001c0014others(2): Show | a0001c0002t0002a0001c0002t0016a0001c0006t0002others(3): Show | a0001c0002t0002g0001 a0001c0002t0002g0015 a0001c0002t0002g0016 others(29): Show |
32 | 170 | 0.1882 | -9 | c.190 others(28): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2185786 | GCCGGGCC others(2): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0002a0001c0005a0001c0024 | a0001c0002t0001a0001c0002t0002a0001c0005t0012others(1): Show | a0001c0002t0001g0072 a0001c0002t0002g0045 a0001c0002t0002g0047 others(2): Show |
5 | 104 | 0.0481 | -9 | c.-42 others(30): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2236757 | TTTCTTCT others(2): Show |
T | intron_variant | MODIFIER | HG06807.hp1 NA20905.hp1 |
a0001 | a0001c0005a0001c0020 | a0001c0005t0024a0001c0020t0005 | a0001c0005t0024g0063 a0001c0020t0005g0081 |
2 | 104 | 0.0192 | -9 | c.-42 others(30): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2332273 | TGTGTGTG others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02818.hp1 |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0002a0001c0005t0012a0001c0008t0002 | a0001c0001t0002g0090 a0001c0005t0012g0092 a0001c0008t0002g0093 |
3 | 104 | 0.0289 | -9 | c.-18 others(20): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 999 | chr2 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64176550 | CACTCTGG others(2): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01496.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0016a0001c0002t0002others(5): Show | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0016g0039 others(11): Show |
14 | 223 | 0.0628 | -9 | c.-99 others(28): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | chr20 | TogoVar |