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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO1E_chr15_59127434_59377871 | 59353369 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18522.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0049a0001c0004t0007 | a0001c0003t0049g0032a0001c0004t0007g0031 | 2 | 226 | 0.0089 | 20 | c.3+1 others(35): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553868 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0047 | 1 | 342 | 0.0029 | 20 | c.327 others(35): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553892 | A | ACTCTCTC others(13): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 342 | 0.0029 | 20 | c.327 others(35): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02683.hp2 HG04115.hp1 |
a0001 | a0001c0001a0001c0003a0001c0018 | a0001c0001t0002a0001c0003t0001a0001c0018t0001 | a0001c0001t0002g0080a0001c0003t0001g0278a0001c0018t0001g0212 | 3 | 342 | 0.0088 | 20 | c.327 others(35): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574577 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 342 | 0.0029 | 20 | c.3+2 others(33): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8581130 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 NA18950.hp2 NA18972.hp2 others(2): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0013 | a0001c0001t0002a0001c0001t0003a0003c0004t0006others(1): Show | a0001c0001t0002g0334a0001c0001t0003g0286a0001c0001t0003g0331others(2): Show | 5 | 342 | 0.0146 | 20 | c.-38 others(31): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 3689 | chr19 | TogoVar | ||||||
MYO1G_chr7_44957662_44984015 | 44961369 | G | GGGGGGTA others(13): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00544.hp1 others(105): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0021others(39): Show | 108 | 378 | 0.2857 | 20 | c.*13 others(31): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1292 | chr7 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427901 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0286 | 1 | 312 | 0.0032 | 20 | c.194 others(37): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427903 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01943.hp1 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0004a0001c0006t0001 | a0001c0004t0004g0192a0001c0006t0001g0290 | 2 | 312 | 0.0064 | 20 | c.194 others(37): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427905 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0291 | 1 | 312 | 0.0032 | 20 | c.194 others(37): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0111 | 1 | 312 | 0.0032 | 20 | c.194 others(37): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAATA others(13): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0173 | 1 | 312 | 0.0032 | 20 | c.194 others(37): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109439498 | T | TGGCCTGT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show |
a0001a0003a0006others(3): Show | a0001c0003a0001c0004a0001c0005others(10): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(26): Show | a0001c0003t0001g0001a0001c0003t0001g0066a0001c0003t0001g0225others(143): Show | 147 | 312 | 0.4712 | 20 | c.229 others(37): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 23/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109443040 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02698.hp1 HG02965.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0003t0001a0001c0003t0008a0001c0004t0001others(4): Show | a0001c0003t0001g0107a0001c0003t0001g0108a0001c0003t0001g0113others(8): Show | 11 | 312 | 0.0353 | 20 | c.268 others(37): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109443040 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0305 | 1 | 312 | 0.0032 | 20 | c.268 others(37): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109443082 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 NA19043.hp2 |
a0001a0013 | a0001c0003a0013c0020 | a0001c0003t0001a0013c0020t0013 | a0001c0003t0001g0248a0013c0020t0013g0249 | 2 | 312 | 0.0064 | 20 | c.268 others(37): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26043149 | G | GTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0018 | a0018c0044 | a0018c0044t0004 | a0018c0044t0004g0096 | 1 | 280 | 0.0036 | 20 | c.953 others(39): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26062530 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0020 | a0020c0043 | a0020c0043t0007 | a0020c0043t0007g0183 | 1 | 280 | 0.0036 | 20 | c.954 others(37): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26081133 | T | TCCCCCCC others(13): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 280 | 0.0036 | 20 | c.136 others(39): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170174301 | T | TGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG03654.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0002g0054a0001c0001t0003g0029a0001c0001t0014g0046others(2): Show | 5 | 174 | 0.0287 | 20 | c.-39 others(31): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 3845 | chr2 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52324002 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18991.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006 | a0002c0002t0002g0135a0002c0002t0006g0115 | 2 | 302 | 0.0066 | 20 | c.471 others(37): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 36/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0280 | 1 | 302 | 0.0033 | 20 | c.220 others(39): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52459147 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0146 | 1 | 302 | 0.0033 | 20 | c.28- others(37): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52471592 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0005 | a0003c0005t0019 | a0003c0005t0019g0071 | 1 | 302 | 0.0033 | 20 | c.28- others(37): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52507804 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0006 | 1 | 302 | 0.0033 | 20 | c.27+ others(37): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49974780 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01255.hp1 others(9): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0003a0002c0005others(8): Show | a0001c0001t0001a0002c0003t0002a0002c0005t0005others(8): Show | a0001c0001t0001g0188a0002c0003t0002g0186a0002c0003t0002g0194others(9): Show | 12 | 238 | 0.0504 | 20 | c.105 others(37): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49974782 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 NA20129.hp2 |
a0002 | a0002c0003a0002c0035 | a0002c0003t0002a0002c0035t0011 | a0002c0003t0002g0107a0002c0035t0011g0227 | 2 | 238 | 0.0084 | 20 | c.105 others(37): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49974798 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03098.hp1 HG03490.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0002a0003c0004t0003others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0146a0002c0003t0002g0182others(3): Show | 6 | 238 | 0.0252 | 20 | c.105 others(37): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49997369 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0008 | a0008c0025 | a0008c0025t0002 | a0008c0025t0002g0106 | 1 | 238 | 0.0042 | 20 | c.612 others(37): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 5/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50104265 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 238 | 0.0042 | 20 | c.28- others(37): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50197233 | T | TAATAAAT others(13): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0160 | 1 | 238 | 0.0042 | 20 | c.-24 others(31): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 2087 | chr18 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01168.hp1 HG01169.hp1 others(1): Show |
a0004 | a0004c0012a0004c0013 | a0004c0012t0004a0004c0013t0005 | a0004c0012t0004g0326a0004c0012t0004g0328a0004c0013t0005g0336others(1): Show | 4 | 360 | 0.0111 | 20 | c.139 others(35): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0004 | a0004c0013 | a0004c0013t0007 | a0004c0013t0007g0337 | 1 | 360 | 0.0028 | 20 | c.139 others(35): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG00597.hp2 HG03669.hp1 NA19068.hp1 |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0018 | a0001c0001t0001a0002c0002t0010a0011c0018t0016 | a0001c0001t0001g0293a0002c0002t0010g0043a0011c0018t0016g0068 | 3 | 360 | 0.0083 | 20 | c.139 others(35): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52291731 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG01891.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0028others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0004t0032others(4): Show | a0001c0001t0002g0160a0001c0001t0004g0001a0001c0001t0004g0154others(11): Show | 15 | 360 | 0.0417 | 20 | c.27+ others(35): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75753455 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0135 | 1 | 358 | 0.0028 | 20 | c.-48 others(37): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO6_chr6_75744239_75924537 | 75753455 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0140 | 1 | 358 | 0.0028 | 20 | c.-48 others(37): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO6_chr6_75744239_75924537 | 75787687 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 358 | 0.0028 | 20 | c.-47 others(39): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | chr6 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77138286 | T | TGCCGCCG others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01081.hp2 others(51): Show |
a0001a0002a0003others(15): Show | a0001c0003a0001c0018a0001c0072others(22): Show | a0001c0003t0001a0001c0018t0007a0001c0072t0001others(22): Show | a0001c0003t0001g0101a0001c0018t0007g0206a0001c0072t0001g0130others(50): Show | 54 | 356 | 0.1517 | 20 | c.19- others(35): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 2/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYO7B_chr2_127530683_127642726 | 127571442 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01081.hp2 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0017a0002c0006others(4): Show | a0001c0002t0001a0001c0017t0004a0002c0006t0001others(4): Show | a0001c0002t0001g0103a0001c0002t0001g0149a0001c0017t0004g0021others(10): Show | 13 | 282 | 0.0461 | 20 | c.592 others(37): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO7B_chr2_127530683_127642726 | 127571442 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0011 | a0011c0020 | a0011c0020t0001 | a0011c0020t0001g0144 | 1 | 282 | 0.0036 | 20 | c.592 others(37): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO7B_chr2_127530683_127642726 | 127571442 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02132.hp2 HG02886.hp1 others(8): Show |
a0002a0017a0041 | a0002c0001a0002c0011a0002c0012others(2): Show | a0002c0001t0001a0002c0011t0002a0002c0012t0001others(2): Show | a0002c0001t0001g0068a0002c0001t0001g0109a0002c0001t0001g0185others(8): Show | 11 | 282 | 0.0390 | 20 | c.592 others(37): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO9A_chr15_71817291_72123150 | 71849939 | A | ATTTATGA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(89): Show |
a0001a0006a0007others(4): Show | a0001c0002a0001c0011a0001c0022others(6): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(25): Show | a0001c0002t0002g0019a0001c0002t0002g0021a0001c0002t0002g0022others(89): Show | 92 | 308 | 0.2987 | 20 | c.671 others(35): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 38/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71853091 | C | CTGAATGA others(13): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0300 | 1 | 308 | 0.0033 | 20 | c.634 others(37): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 35/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71860969 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18964.hp2 |
a0001a0008 | a0001c0002a0008c0009 | a0001c0002t0006a0008c0009t0050 | a0001c0002t0006g0023a0008c0009t0050g0267 | 2 | 308 | 0.0065 | 20 | c.609 others(39): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 33/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71867798 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02717.hp2 HG03516.hp1 others(1): Show |
a0001a0026 | a0001c0001a0026c0030 | a0001c0001t0005a0026c0030t0021 | a0001c0001t0005g0214a0001c0001t0005g0218a0001c0001t0005g0219others(1): Show | 4 | 308 | 0.0130 | 20 | c.598 others(39): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 32/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 308 | 0.0033 | 20 | c.268 others(39): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71910168 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00642.hp1 others(52): Show |
a0001a0012a0017others(2): Show | a0001c0002a0012c0014a0017c0020others(2): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(11): Show | a0001c0002t0002g0019a0001c0002t0002g0021a0001c0002t0002g0025others(52): Show | 55 | 308 | 0.1786 | 20 | c.268 others(39): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71910168 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0033 | 1 | 308 | 0.0033 | 20 | c.268 others(39): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0095 | 1 | 308 | 0.0033 | 20 | c.256 others(39): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar |