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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUSK_chr9_110663791_110811558 | 110676343 | C | CATATATT others(35): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03041.hp1 homoSapiens_chm13v2.hp1 |
a0001a0007 | a0001c0001a0001c0002a0007c0011 | a0001c0001t0021a0001c0002t0023a0007c0011t0019 | a0001c0001t0021g0164a0001c0002t0023g0129a0007c0011t0019g0127 | 3 | 326 | 0.0092 | 42 | c.80- others(57): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110701652 | A | ATTATTTT others(35): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 326 | 0.0031 | 42 | c.628 others(59): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126433296 | G | GGATACAC others(35): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0039others(2): Show | a0001c0001t0001g0241a0001c0001t0001g0274a0001c0002t0001g0266others(4): Show | 7 | 318 | 0.0220 | 42 | c.757 others(61): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126476051 | A | AGGAGCAC others(35): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01069.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0101a0001c0001t0001g0102others(26): Show | 30 | 318 | 0.0943 | 42 | c.758 others(59): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVD_chr16_88646940_88668091 | 88663680 | G | GGCCGTGG others(35): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0136 | 1 | 434 | 0.0023 | 42 | c.-60 others(51): Show |
MVD | ENSG00000167508.12 | transcript | ENST00000301012.8 | protein_coding | 590 | chr16 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(35): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0306 | 1 | 372 | 0.0027 | 42 | c.274 others(59): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MXRA7_chr17_76674566_76715965 | 76706218 | A | AAGGCCCA others(35): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01070.hp1 others(50): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0003t0002others(5): Show | a0001c0001t0002g0022a0001c0001t0002g0047a0001c0001t0002g0051others(44): Show | 53 | 416 | 0.1274 | 42 | c.342 others(59): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
MXRA7_chr17_76674566_76715965 | 76706248 | T | TCTGCCGT others(35): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0292 | 1 | 416 | 0.0024 | 42 | c.342 others(59): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
MXRA7_chr17_76674566_76715965 | 76706332 | G | GCTGCCGT others(35): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0045a0001c0001t0011g0046 | 2 | 416 | 0.0048 | 42 | c.342 others(59): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
MXRA7_chr17_76674566_76715965 | 76706353 | T | TCTGCCGT others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0010others(30): Show | 43 | 416 | 0.1034 | 42 | c.342 others(59): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
MXRA7_chr17_76674566_76715965 | 76706380 | G | GTCACAAA others(35): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 416 | 0.0024 | 42 | c.342 others(59): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
MYBPC3_chr11_47326406_47357702 | 47348908 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01074.hp2 HG01106.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0172a0001c0001t0001g0184others(10): Show | 17 | 374 | 0.0455 | 42 | c.655 others(57): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77286789 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0306 | 1 | 334 | 0.0030 | 42 | c.594 others(59): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0217 | 1 | 376 | 0.0027 | 42 | c.125 others(59): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYDGF_chr19_4652545_4675342 | 4663451 | C | CTCCAATC others(35): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18969.hp1 NA18984.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0121a0002c0002t0002g0139a0002c0002t0002g0140 | 3 | 410 | 0.0073 | 42 | c.287 others(59): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4672110 | C | CGAATATA others(35): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 | 1 | 410 | 0.0024 | 42 | c.-17 others(53): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1769 | chr19 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109010957 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG03130.hp1 NA19010.hp2 |
a0001a0007 | a0001c0002a0007c0006 | a0001c0002t0002a0007c0006t0001 | a0001c0002t0002g0027a0007c0006t0001g0100 | 2 | 152 | 0.0132 | 42 | c.259 others(61): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25963160 | C | CCTCTCTC others(35): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0053 | a0053c0056 | a0053c0056t0001 | a0053c0056t0001g0075 | 1 | 228 | 0.0044 | 42 | c.615 others(61): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO19_chr17_36490636_36539868 | 36535212 | G | GCGGCGGA others(35): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 373 | 0.0027 | 42 | c.-74 others(51): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 345 | chr17 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282903 | G | GGAGGGGG others(35): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0008 | 1 | 226 | 0.0044 | 42 | c.4-1 others(57): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282917 | A | AGGGGGGA others(35): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0019 | 1 | 226 | 0.0044 | 42 | c.4-1 others(57): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGAGGGGG others(35): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0176 | 1 | 226 | 0.0044 | 42 | c.4-1 others(57): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGAGGGGG others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0048a0001c0001t0001g0055a0001c0001t0001g0199others(30): Show | 33 | 226 | 0.1460 | 42 | c.4-1 others(57): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543855 | G | GTGGTGGT others(35): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259a0001c0001t0001g0316 | 2 | 342 | 0.0059 | 42 | c.152 others(59): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543892 | T | TGCTGGTG others(35): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 1 | 342 | 0.0029 | 42 | c.152 others(59): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543963 | G | GTGGTGGT others(35): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0233 | 1 | 342 | 0.0029 | 42 | c.152 others(59): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8579361 | T | TTGAGCCC others(35): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 342 | 0.0029 | 42 | c.-20 others(53): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1920 | chr19 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAATA others(35): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0138 | 1 | 312 | 0.0032 | 42 | c.194 others(59): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAATATA others(35): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0102 | 1 | 312 | 0.0032 | 42 | c.194 others(59): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170648633 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01978.hp2 HG02523.hp2 others(3): Show |
a0001a0004a0008 | a0001c0001a0001c0011a0004c0069others(2): Show | a0001c0001t0001a0001c0001t0020a0001c0011t0001others(3): Show | a0001c0001t0001g0030a0001c0001t0020g0079a0001c0011t0001g0166others(3): Show | 6 | 174 | 0.0345 | 42 | c.373 others(61): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170649356 | A | ATTATATA others(35): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0009 | a0009c0016 | a0009c0016t0004 | a0009c0016t0004g0084 | 1 | 174 | 0.0058 | 42 | c.373 others(61): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | chr2 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77182389 | C | CCGCTCTG others(35): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03098.hp2 |
a0001a0006 | a0001c0060a0006c0061 | a0001c0060t0001a0006c0061t0001 | a0001c0060t0001g0243a0006c0061t0001g0139 | 2 | 356 | 0.0056 | 42 | c.310 others(57): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 24/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYOF_chr10_93301429_93487334 | 93378693 | G | GTGTGTAT others(35): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0234 | 1 | 240 | 0.0042 | 42 | c.200 others(61): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 21/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93378693 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0012 | a0012c0022 | a0012c0022t0001 | a0012c0022t0001g0053 | 1 | 240 | 0.0042 | 42 | c.200 others(61): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 21/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93406288 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | NA18993.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0037a0001c0002t0002g0212 | 2 | 240 | 0.0083 | 42 | c.730 others(59): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 7/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93478832 | A | AAGAAAGA others(35): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 240 | 0.0042 | 42 | c.88+ others(57): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93478836 | A | AAGAAAGA others(35): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 240 | 0.0042 | 42 | c.88+ others(57): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93482853 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 240 | 0.0042 | 42 | c.-66 others(51): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 520 | chr10 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2120685 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02559.hp1 HG06807.hp2 NA18522.hp1 |
a0002a0037 | a0002c0086a0002c0121a0037c0134 | a0002c0086t0006a0002c0121t0006a0037c0134t0001 | a0002c0086t0006g0190a0002c0121t0006g0075a0037c0134t0001g0048 | 3 | 403 | 0.0074 | 42 | c.345 others(61): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2120685 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01361.hp1 NA18955.hp1 |
a0001a0002a0040 | a0001c0091a0002c0017a0040c0060 | a0001c0091t0001a0002c0017t0001a0040c0060t0001 | a0001c0091t0001g0328a0002c0017t0001g0321a0040c0060t0001g0345 | 3 | 403 | 0.0074 | 42 | c.345 others(61): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69820875 | A | ACCCAAAC others(35): Show |
upstream_gene_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 1 | 322 | 0.0031 | 42 | c.-46 others(53): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 4351 | chr12 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40192313 | T | TATATATG others(35): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 170 | 0.0059 | 42 | c.166 others(61): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40192315 | T | TATATGAC others(35): Show |
intron_variant | MODIFIER | HG01168.hp2 NA18947.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0003g0119 | 3 | 170 | 0.0177 | 42 | c.166 others(61): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYSM1_chr1_58649743_58705062 | 58651407 | A | AGTGTGTG others(35): Show |
downstream_gene_variant | MODIFIER | NA19057.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0033 | a0001c0001t0009g0165a0001c0001t0033g0187 | 2 | 410 | 0.0049 | 42 | c.*85 others(53): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 3335 | chr1 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0129 | 1 | 410 | 0.0024 | 42 | c.68+ others(57): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0114 | 1 | 410 | 0.0024 | 42 | c.68+ others(57): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18940.hp2 NA18987.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0013a0002c0002t0075 | a0002c0002t0002g0091a0002c0002t0002g0093a0002c0002t0002g0094others(2): Show | 5 | 410 | 0.0122 | 42 | c.68+ others(57): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0236 | 1 | 410 | 0.0024 | 42 | c.68+ others(57): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1863593 | A | ACTCCAGG others(35): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02559.hp1 HG02818.hp2 |
a0001 | a0001c0014a0001c0015a0001c0024 | a0001c0014t0002a0001c0015t0001a0001c0024t0020 | a0001c0014t0002g0070a0001c0015t0001g0015a0001c0024t0020g0064 | 3 | 104 | 0.0289 | 42 | c.271 others(63): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1934307 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0053 | 1 | 104 | 0.0096 | 42 | c.505 others(59): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 9/24 | chr2 | TogoVar |