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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO1F_chr19_8515778_8582442 | 8553868 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 342 | 0.0029 | 18 | c.327 others(33): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553892 | A | ACTCTCTC others(11): Show |
intron_variant | MODIFIER | HG03704.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0251a0001c0001t0002g0226 | 2 | 342 | 0.0059 | 18 | c.327 others(33): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 342 | 0.0029 | 18 | c.327 others(33): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574577 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059a0001c0001t0002g0060a0001c0001t0002g0071 | 3 | 342 | 0.0088 | 18 | c.3+2 others(31): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574577 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0148 | 2 | 342 | 0.0059 | 18 | c.3+2 others(31): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574595 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 342 | 0.0029 | 18 | c.3+2 others(31): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8581130 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02015.hp1 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0316a0001c0001t0001g0329a0001c0001t0011g0307 | 3 | 342 | 0.0088 | 18 | c.-38 others(29): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 3689 | chr19 | TogoVar | ||||||
MYO1G_chr7_44957662_44984015 | 44961509 | G | GGGGCTGA others(11): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0006 | 1 | 378 | 0.0027 | 18 | c.*12 others(29): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1152 | chr7 | TogoVar | ||||||
MYO1G_chr7_44957662_44984015 | 44961985 | G | GGGGGCTG others(11): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 378 | 0.0027 | 18 | c.*75 others(27): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 676 | chr7 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427899 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03130.hp2 NA18522.hp1 |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0285a0001c0006t0005g0293a0001c0006t0005g0300 | 3 | 312 | 0.0096 | 18 | c.194 others(35): 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(11): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0231 | 1 | 312 | 0.0032 | 18 | c.194 others(35): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427907 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0228 | 1 | 312 | 0.0032 | 18 | c.194 others(35): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109443040 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0004 | a0004c0009 | a0004c0009t0001a0004c0009t0003 | a0004c0009t0001g0240a0004c0009t0003g0237 | 2 | 312 | 0.0064 | 18 | c.268 others(35): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109443151 | T | TGTGTGTA others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01258.hp2 HG01952.hp1 others(10): Show |
a0001a0006a0012 | a0001c0003a0001c0004a0006c0008others(1): Show | a0001c0003t0001a0001c0003t0006a0001c0004t0001others(3): Show | a0001c0003t0001g0002a0001c0003t0001g0003a0001c0003t0006g0089others(10): Show | 13 | 312 | 0.0417 | 18 | c.268 others(35): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109443356 | A | ATGTGTAC others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0248 | 1 | 312 | 0.0032 | 18 | c.268 others(35): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | chr12 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26043149 | G | GTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02818.hp2 |
a0010 | a0010c0011 | a0010c0011t0002 | a0010c0011t0002g0095a0010c0011t0002g0099 | 2 | 280 | 0.0071 | 18 | c.953 others(37): 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(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG02486.hp2 others(2): Show |
a0004a0013 | a0004c0005a0004c0008a0013c0039 | a0004c0005t0006a0004c0008t0007a0013c0039t0015 | a0004c0005t0006g0272a0004c0005t0006g0273a0004c0008t0007g0180others(2): Show | 5 | 280 | 0.0179 | 18 | c.954 others(35): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26077233 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02818.hp2 HG02886.hp1 |
a0010 | a0010c0011 | a0010c0011t0002 | a0010c0011t0002g0095a0010c0011t0002g0097a0010c0011t0002g0099 | 3 | 280 | 0.0107 | 18 | c.135 others(37): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26081133 | T | TCCCCCCC others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0010 | a0010c0011 | a0010c0011t0002 | a0010c0011t0002g0098 | 1 | 280 | 0.0036 | 18 | c.136 others(37): 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(11): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 NA18951.hp2 |
a0001a0004 | a0001c0001a0004c0073 | a0001c0001t0001a0004c0073t0001 | a0001c0001t0001g0008a0004c0073t0001g0088 | 2 | 174 | 0.0115 | 18 | c.-39 others(29): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 3845 | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170453409 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03654.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0054a0001c0002t0001g0167 | 2 | 174 | 0.0115 | 18 | c.273 others(37): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170489634 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03041.hp2 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0003a0001c0014t0001 | a0001c0002t0003g0068a0001c0014t0001g0169 | 2 | 174 | 0.0115 | 18 | c.301 others(37): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170537448 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02523.hp1 NA18972.hp1 others(2): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0061others(2): Show | a0001c0001t0003a0003c0003t0003a0004c0061t0002others(2): Show | a0001c0001t0003g0035a0003c0003t0003g0060a0004c0061t0002g0049others(2): Show | 5 | 174 | 0.0287 | 18 | c.357 others(37): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170580718 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 |
a0001a0009 | a0001c0002a0009c0020 | a0001c0002t0001a0009c0020t0003 | a0001c0002t0001g0067a0009c0020t0003g0064 | 2 | 174 | 0.0115 | 18 | c.373 others(39): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170580718 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0048 | 1 | 174 | 0.0058 | 18 | c.373 others(39): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170648717 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0025 | 1 | 174 | 0.0058 | 18 | c.373 others(37): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170649322 | T | TAATATAT others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0079 | 1 | 174 | 0.0058 | 18 | c.373 others(37): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO5A_chr15_52302283_52533880 | 52329905 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0133 | 1 | 302 | 0.0033 | 18 | c.455 others(35): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 35/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02027.hp2 NA19067.hp2 |
a0001a0002 | a0001c0001a0002c0020 | a0001c0001t0001a0002c0020t0006 | a0001c0001t0001g0181a0001c0001t0001g0282a0002c0020t0006g0128 | 3 | 302 | 0.0099 | 18 | c.220 others(37): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52450847 | T | TTTGTTTT others(11): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0280 | 1 | 302 | 0.0033 | 18 | c.28- others(35): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52450848 | T | TTGTTTTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(26): Show |
a0001a0002a0011 | a0001c0001a0001c0004a0002c0010others(1): Show | a0001c0001t0023a0001c0001t0061a0001c0004t0005others(9): Show | a0001c0001t0023g0010a0001c0001t0061g0016a0001c0004t0005g0011others(26): Show | 29 | 302 | 0.0960 | 18 | c.28- others(35): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52450848 | T | TTGTTTTT others(11): Show |
intron_variant | MODIFIER | NA19240.hp1 NA20129.hp1 |
a0001 | a0001c0004a0001c0026 | a0001c0004t0006a0001c0026t0006 | a0001c0004t0006g0037a0001c0026t0006g0008 | 2 | 302 | 0.0066 | 18 | c.28- others(35): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52471592 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01496.hp1 HG01884.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0002a0003c0005others(2): Show | a0001c0003t0004a0002c0002t0002a0002c0002t0006others(5): Show | a0001c0003t0004g0074a0002c0002t0002g0093a0002c0002t0006g0106others(11): Show | 14 | 302 | 0.0464 | 18 | c.28- others(35): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52533663 | A | AAATAATA others(11): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG02004.hp1 others(3): Show |
a0001a0002a0011 | a0001c0003a0001c0004a0001c0012others(2): Show | a0001c0003t0003a0001c0003t0004a0001c0004t0005others(3): Show | a0001c0003t0003g0249a0001c0003t0004g0042a0001c0004t0005g0014others(3): Show | 6 | 302 | 0.0199 | 18 | c.-48 others(29): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 4784 | chr15 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49965455 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0160 | 1 | 238 | 0.0042 | 18 | c.132 others(37): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 10/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49974782 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02071.hp1 HG03710.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0013t0007others(5): Show | a0001c0001t0001g0039a0001c0002t0001g0166a0001c0013t0007g0076others(5): Show | 8 | 238 | 0.0336 | 18 | c.105 others(35): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49974784 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0158 | 1 | 238 | 0.0042 | 18 | c.105 others(35): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49974798 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG03239.hp2 HG06807.hp2 |
a0035a0036 | a0035c0029a0036c0027 | a0035c0029t0005a0036c0027t0005 | a0035c0029t0005g0028a0036c0027t0005g0042 | 2 | 238 | 0.0084 | 18 | c.105 others(35): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50145497 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 |
a0001 | a0001c0002a0001c0056 | a0001c0002t0002a0001c0056t0002 | a0001c0002t0002g0116a0001c0056t0002g0115 | 2 | 238 | 0.0084 | 18 | c.27+ others(35): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50183306 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02630.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0121a0001c0002t0002g0122 | 2 | 238 | 0.0084 | 18 | c.27+ others(35): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52256562 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0159 | 1 | 360 | 0.0028 | 18 | c.139 others(33): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG03579.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0308a0001c0004t0002g0309a0001c0004t0002g0310 | 3 | 360 | 0.0083 | 18 | c.139 others(33): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18940.hp2 NA18973.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0260a0001c0001t0001g0280a0001c0001t0001g0285others(1): Show | 4 | 360 | 0.0111 | 18 | c.139 others(33): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(80): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0030a0001c0031others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(15): Show | a0001c0001t0001g0166a0001c0001t0001g0222a0001c0001t0001g0226others(79): Show | 83 | 360 | 0.2306 | 18 | c.139 others(33): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACGC others(11): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19005.hp2 NA19063.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0019 | a0001c0001t0001g0248a0001c0001t0001g0251a0002c0002t0019g0299 | 3 | 360 | 0.0083 | 18 | c.139 others(33): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52291731 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0070 | 1 | 360 | 0.0028 | 18 | c.27+ others(33): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75753455 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0127a0001c0001t0016g0128 | 2 | 358 | 0.0056 | 18 | c.-48 others(35): 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(11): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0133 | 1 | 358 | 0.0028 | 18 | c.-48 others(35): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO6_chr6_75744239_75924537 | 75787722 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0194 | 1 | 358 | 0.0028 | 18 | c.-47 others(37): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO7A_chr11_77123246_77220241 | 77125614 | C | CTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0040 | a0040c0049 | a0040c0049t0001 | a0040c0049t0001g0093 | 1 | 356 | 0.0028 | 18 | c.-29 others(29): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 2631 | chr11 | TogoVar |