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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO1H_chr12_109342900_109453379 | 109412953 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0006a0001c0004t0016 | a0001c0003t0001g0002a0001c0003t0001g0003a0001c0003t0006g0089others(4): Show | 7 | 312 | 0.0224 | 9 | c.150 others(26): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 14/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109452845 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02630.hp2 others(8): Show |
a0001a0003a0007 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0001a0001c0005t0005a0001c0006t0005others(2): Show | a0001c0003t0001g0297a0001c0005t0005g0014a0001c0006t0005g0293others(8): Show | 11 | 312 | 0.0353 | 9 | c.*56 others(20): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 4467 | chr12 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 25988939 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01255.hp1 others(3): Show |
a0006a0023 | a0006c0006a0023c0037 | a0006c0006t0001a0023c0037t0001 | a0006c0006t0001g0012a0006c0006t0001g0013a0006c0006t0001g0014others(3): Show | 6 | 280 | 0.0214 | 9 | c.304 others(26): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 4/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26065605 | A | AAAAAAAC others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01168.hp1 others(5): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0012a0006c0006t0001g0013a0006c0006t0001g0014others(5): Show | 8 | 280 | 0.0286 | 9 | c.954 others(26): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170399242 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03654.hp2 HG04199.hp2 others(2): Show |
a0001a0003a0005 | a0001c0004a0003c0003a0005c0012others(1): Show | a0001c0004t0002a0003c0003t0001a0003c0003t0003others(2): Show | a0001c0004t0002g0172a0003c0003t0001g0032a0003c0003t0003g0034others(2): Show | 5 | 174 | 0.0287 | 9 | c.179 others(26): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170537448 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02145.hp1 HG02258.hp2 others(4): Show |
a0001a0006a0013others(1): Show | a0001c0002a0001c0004a0001c0041others(4): Show | a0001c0002t0004a0001c0004t0006a0001c0041t0001others(4): Show | a0001c0002t0004g0153a0001c0004t0006g0013a0001c0041t0001g0119others(4): Show | 7 | 174 | 0.0402 | 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 | 170551343 | A | AATTTATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00621.hp1 others(44): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(41): Show | a0001c0001t0001g0038a0001c0001t0002g0044a0001c0001t0002g0061others(44): Show | 47 | 174 | 0.2701 | 9 | c.373 others(28): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170619737 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00738.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(17): Show | a0001c0001t0002g0026a0001c0001t0002g0054a0001c0001t0005g0042others(20): Show | 23 | 174 | 0.1322 | 9 | c.373 others(30): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO5A_chr15_52302283_52533880 | 52311939 | A | ATTTGTCA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(88): Show | a0001c0001t0001g0136a0001c0001t0001g0144a0001c0001t0001g0145others(287): Show | 291 | 302 | 0.9636 | 9 | c.*17 others(20): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 42/42 | 1756 | chr15 | TogoVar | |||||
MYO5A_chr15_52302283_52533880 | 52450843 | G | GTTTTTTG others(2): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03130.hp1 HG03654.hp1 others(5): Show |
a0002a0003a0004 | a0002c0002a0003c0005a0003c0028others(1): Show | a0002c0002t0006a0003c0005t0007a0003c0005t0020others(4): Show | a0002c0002t0006g0141a0003c0005t0007g0053a0003c0005t0007g0252others(5): Show | 8 | 302 | 0.0265 | 9 | c.28- others(26): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52459147 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00609.hp1 others(39): Show |
a0001a0009a0010 | a0001c0001a0001c0003a0001c0021others(3): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0027others(16): Show | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0159others(39): Show | 42 | 302 | 0.1391 | 9 | c.28- others(26): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52533663 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00735.hp1 others(6): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0014 | a0001c0003t0004a0001c0003t0025a0001c0004t0005others(2): Show | a0001c0003t0004g0040a0001c0003t0004g0142a0001c0003t0025g0242others(6): Show | 9 | 302 | 0.0298 | 9 | c.-48 others(20): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 4784 | chr15 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49882347 | C | CATTTTAT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(58): Show |
a0002a0004a0005others(12): Show | a0002c0003a0002c0009a0002c0010others(21): Show | a0002c0003t0002a0002c0003t0008a0002c0003t0020others(28): Show | a0002c0003t0002g0010a0002c0003t0002g0107a0002c0003t0002g0133others(58): Show | 61 | 238 | 0.2563 | 9 | c.304 others(28): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 22/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50077168 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03831.hp2 HG04115.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0023 | a0001c0001t0001a0001c0001t0024a0002c0003t0002others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0058a0001c0001t0024g0004others(3): Show | 6 | 238 | 0.0252 | 9 | c.28- others(26): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50122439 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp1 others(30): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0002c0003others(16): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(18): Show | a0001c0001t0001g0018a0001c0001t0001g0074a0001c0001t0001g0102others(30): Show | 33 | 238 | 0.1387 | 9 | c.28- others(26): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52291731 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01099.hp2 others(22): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0017a0001c0003t0003a0001c0003t0007others(7): Show | a0001c0001t0017g0029a0001c0003t0003g0018a0001c0003t0003g0024others(22): Show | 25 | 360 | 0.0694 | 9 | c.27+ others(24): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75904424 | T | TTTCTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01069.hp2 others(26): Show |
a0001a0006 | a0001c0001a0001c0008a0006c0011 | a0001c0001t0006a0001c0001t0019a0001c0001t0029others(10): Show | a0001c0001t0006g0126a0001c0001t0006g0147a0001c0001t0006g0148others(26): Show | 29 | 358 | 0.0810 | 9 | c.317 others(28): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO7A_chr11_77123246_77220241 | 77138321 | C | CGCCGACC others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01175.hp2 others(69): Show |
a0001a0002a0003others(17): Show | a0001c0003a0001c0005a0001c0018others(32): Show | a0001c0003t0001a0001c0005t0001a0001c0018t0001others(33): Show | a0001c0003t0001g0101a0001c0005t0001g0015a0001c0005t0001g0308others(67): Show | 72 | 356 | 0.2023 | 9 | c.19- others(24): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 2/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYO7A_chr11_77123246_77220241 | 77170380 | A | AGGCTGGA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02027.hp1 HG02040.hp2 others(1): Show |
a0002a0004 | a0002c0002a0004c0007 | a0002c0002t0001a0004c0007t0001 | a0002c0002t0001g0157a0002c0002t0001g0165a0002c0002t0001g0166others(1): Show | 4 | 356 | 0.0112 | 9 | c.179 others(28): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 15/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYO7A_chr11_77123246_77220241 | 77192977 | G | GCGATGGT others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02970.hp1 HG03540.hp2 others(2): Show |
a0005a0008a0010others(1): Show | a0005c0059a0008c0115a0010c0022others(2): Show | a0005c0059t0001a0008c0115t0001a0010c0022t0001others(2): Show | a0005c0059t0001g0244a0008c0115t0001g0269a0010c0022t0001g0076others(2): Show | 5 | 356 | 0.0140 | 9 | c.415 others(26): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77192977 | G | GTGATGCT others(2): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03486.hp2 HG06807.hp1 |
a0001a0005a0015 | a0001c0069a0005c0054a0015c0046 | a0001c0069t0001a0005c0054t0001a0015c0046t0001 | a0001c0069t0001g0340a0005c0054t0001g0140a0015c0046t0001g0326 | 3 | 356 | 0.0084 | 9 | c.415 others(26): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYO7A_chr11_77123246_77220241 | 77192977 | G | GTGATGGT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01433.hp1 HG02155.hp2 others(12): Show |
a0001a0004a0005others(5): Show | a0001c0003a0001c0072a0004c0007others(6): Show | a0001c0003t0001a0001c0072t0001a0004c0007t0001others(6): Show | a0001c0003t0001g0068a0001c0003t0001g0069a0001c0003t0001g0071others(11): Show | 15 | 356 | 0.0421 | 9 | c.415 others(26): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00735.hp2 others(31): Show |
a0001a0019a0020others(3): Show | a0001c0001a0019c0023a0020c0027others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(5): Show | a0001c0001t0001g0107a0001c0001t0001g0114a0001c0001t0001g0123others(31): Show | 34 | 308 | 0.1104 | 9 | c.268 others(28): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71956328 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02155.hp2 NA18979.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038a0001c0002t0002g0058a0001c0002t0002g0281others(1): Show | 4 | 308 | 0.0130 | 9 | c.218 others(28): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17075767 | A | AGCGGCGG others(2): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0004t0001g0193 | 3 | 262 | 0.0115 | 9 | c.-16 others(18): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 9 | chr19 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17094015 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01175.hp1 HG02615.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0007a0003c0006others(1): Show | a0001c0001t0001a0002c0007t0004a0003c0006t0003others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0042others(3): Show | 6 | 262 | 0.0229 | 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 | 17208353 | A | AAAAGCAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(123): Show |
a0001a0011a0015others(6): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0011a0001c0003t0001others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(123): Show | 126 | 262 | 0.4809 | 9 | c.562 others(28): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 35/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYOCD_chr17_12660890_12773949 | 12697360 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01496.hp2 HG01952.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0003a0001c0001t0006a0001c0001t0021others(3): Show | a0001c0001t0003g0093a0001c0001t0006g0250a0001c0001t0021g0251others(3): Show | 6 | 346 | 0.0173 | 9 | c.56- others(24): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12700399 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02723.hp2 HG02896.hp1 others(6): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0010 | a0001c0001t0001a0001c0001t0039a0001c0001t0081others(6): Show | a0001c0001t0001g0155a0001c0001t0039g0138a0001c0001t0081g0026others(6): Show | 9 | 346 | 0.0260 | 9 | c.56- others(24): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYOCOS_chr1_171617243_171631888 | 171624435 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0016others(2): Show | 50 | 412 | 0.1214 | 9 | c.95+ others(22): Show |
MYOCOS | ENSG00000283683.2 | transcript | ENST00000637642.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MYOF_chr10_93301429_93487334 | 93306534 | T | TAACTAAC others(2): Show |
3_prime_UTR_variant | MODIFIER | NA19240.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013a0001c0001t0005g0032 | 2 | 240 | 0.0083 | 9 | c.*42 others(18): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 54/54 | 428 | chr10 | TogoVar | |||||
MYOF_chr10_93301429_93487334 | 93347567 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp2 others(40): Show |
a0001a0002a0013others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(14): Show | a0001c0001t0001g0039a0001c0001t0001g0049a0001c0001t0001g0070others(40): Show | 43 | 240 | 0.1792 | 9 | c.424 others(24): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 37/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93431025 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00741.hp1 others(23): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0015a0001c0001t0002g0168a0001c0001t0002g0193others(23): Show | 26 | 240 | 0.1083 | 9 | c.345 others(24): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 4/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93483368 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG01928.hp2 HG01975.hp1 others(16): Show |
a0001a0004a0008others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0015a0001c0001t0001g0030a0001c0001t0001g0045others(16): Show | 19 | 240 | 0.0792 | 9 | c.-11 others(20): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1035 | chr10 | TogoVar | ||||||
MYOG_chr1_203078129_203091012 | 203088081 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02027.hp2 HG03098.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0003g0001others(8): Show | 13 | 460 | 0.0283 | 9 | c.-21 others(20): Show |
MYOG | ENSG00000122180.5 | transcript | ENST00000241651.5 | protein_coding | 2070 | chr1 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3072350 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01123.hp1 others(21): Show |
a0001a0002a0007others(10): Show | a0001c0001a0001c0033a0002c0015others(16): Show | a0001c0001t0003a0001c0033t0003a0002c0015t0001others(17): Show | a0001c0001t0003g0235a0001c0033t0003g0257a0002c0015t0001g0179others(21): Show | 24 | 330 | 0.0727 | 9 | c.470 others(26): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 36/37 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3127306 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02647.hp2 others(1): Show |
a0002a0011a0023others(1): Show | a0002c0146a0011c0137a0023c0155others(1): Show | a0002c0146t0001a0011c0137t0001a0023c0155t0001others(1): Show | a0002c0146t0001g0135a0011c0137t0001g0145a0023c0155t0001g0026others(1): Show | 4 | 330 | 0.0121 | 9 | c.279 others(26): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 18/37 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3177445 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(46): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0011others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(31): Show | a0001c0001t0001g0052a0001c0001t0003g0234a0001c0001t0003g0235others(46): Show | 49 | 330 | 0.1485 | 9 | c.930 others(26): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 5/37 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3188461 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01081.hp2 others(29): Show |
a0002a0010a0015others(13): Show | a0002c0107a0002c0108a0002c0112others(25): Show | a0002c0107t0001a0002c0108t0001a0002c0112t0001others(25): Show | a0002c0107t0001g0034a0002c0108t0001g0033a0002c0112t0001g0153others(29): Show | 32 | 330 | 0.0970 | 9 | c.771 others(24): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 4/37 | chr18 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2120675 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG01433.hp2 others(27): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0003a0001c0065others(20): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(21): Show | a0001c0002t0001g0322a0001c0002t0001g0383a0001c0002t0003g0096others(27): Show | 30 | 403 | 0.0744 | 9 | c.345 others(28): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2142762 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01346.hp1 HG01928.hp2 others(5): Show |
a0022a0041a0043others(3): Show | a0022c0043a0022c0066a0041c0210others(4): Show | a0022c0043t0001a0022c0066t0005a0041c0210t0001others(4): Show | a0022c0043t0001g0239a0022c0043t0001g0382a0022c0066t0005g0274others(5): Show | 8 | 403 | 0.0199 | 9 | c.402 others(26): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOZ2_chr4_119130832_119192789 | 119168683 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 HG04228.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0015a0001c0001t0007g0298 | 4 | 394 | 0.0102 | 9 | c.560 others(26): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MYOZ3_chr5_150656251_150684368 | 150683500 | A | AAAAGAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(76): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0009 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0011others(54): Show | 79 | 394 | 0.2005 | 9 | c.*66 others(20): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 4133 | chr5 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69880951 | G | GGTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00597.hp1 others(73): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0015others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0014others(73): Show | 76 | 322 | 0.2360 | 9 | c.556 others(24): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 5/24 | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69962053 | C | CAACAACA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(91): Show |
a0001a0003a0007others(6): Show | a0001c0001a0001c0003a0001c0015others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0014others(91): Show | 94 | 322 | 0.2919 | 9 | c.*35 others(20): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2957 | chr12 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 39917527 | G | GTGACTGT others(2): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0009a0001c0004t0001 | a0001c0001t0009g0161a0001c0004t0001g0025 | 2 | 170 | 0.0118 | 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 | 39917731 | C | CCAGATGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(90): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(90): Show | 93 | 170 | 0.5471 | 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 | 40000843 | C | CACTTGTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02615.hp2 HG02647.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0009a0001c0004t0001a0002c0005t0004 | a0001c0001t0009g0161a0001c0004t0001g0025a0002c0005t0004g0168others(2): Show | 5 | 170 | 0.0294 | 9 | c.111 others(28): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40061039 | T | TCTAAAAG others(2): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041a0001c0001t0003g0042 | 2 | 170 | 0.0118 | 9 | c.332 others(28): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYT1L_chr2_1784113_2336275 | 1792871 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG02135.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0004a0001c0001t0008a0001c0002t0001others(26): Show | a0001c0001t0004g0011a0001c0001t0008g0009a0001c0002t0001g0046others(32): Show | 35 | 104 | 0.3365 | 9 | c.327 others(26): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 23/24 | chr2 | TogoVar |