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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO10_chr5_16656907_16941288 | 16931209 | TGTGGTGA others(13): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0022 | a0022c0045 | a0022c0045t0047 | a0022c0045t0047g0031 | 1 | 272 | 0.0037 | -20 | c.21+ others(35): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16936304 | CGCCCCGC others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00609.hp1 others(86): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0015others(34): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(82): Show | a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0001t0012g0198 others(86): Show |
89 | 272 | 0.3272 | -20 | c.-51 others(29): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 17 | chr5 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 108838753 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0005 | 1 | 152 | 0.0066 | -20 | c.109 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108936085 | TTTCCTTC others(13): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0033 | 1 | 152 | 0.0066 | -20 | c.192 others(41): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109048153 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG03486.hp1 others(1): Show |
a0001a0015a0018 | a0001c0002a0001c0045a0015c0057others(1): Show | a0001c0002t0001a0001c0045t0007a0015c0057t0001others(1): Show | a0001c0002t0001g0007 a0001c0045t0007g0051 a0015c0057t0001g0023 others(1): Show |
4 | 152 | 0.0263 | -20 | c.287 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 24/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109199192 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02523.hp1 others(9): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0024a0002c0009others(8): Show | a0001c0002t0003a0001c0002t0006a0001c0024t0003others(9): Show | a0001c0002t0003g0028 a0001c0002t0006g0068 a0001c0024t0003g0106 others(9): Show |
12 | 152 | 0.0790 | -20 | c.541 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO18A_chr17_29066122_29185398 | 29130474 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01168.hp1 others(5): Show |
a0001 | a0001c0005a0001c0035 | a0001c0005t0005a0001c0005t0011a0001c0005t0016others(1): Show | a0001c0005t0005g0182 a0001c0005t0005g0229 a0001c0005t0005g0231 others(5): Show |
8 | 306 | 0.0261 | -20 | c.100 others(39): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 2/41 | chr17 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25814294 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00735.hp2 others(48): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0021a0001c0067others(30): Show | a0001c0001t0001a0001c0021t0001a0001c0067t0006others(30): Show | a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0061 others(48): Show |
51 | 228 | 0.2237 | -20 | c.252 others(39): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25876003 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0004 | a0004c0053 | a0004c0053t0001 | a0004c0053t0001g0101 | 1 | 228 | 0.0044 | -20 | c.408 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 23/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25921702 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(68): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0005a0001c0006others(49): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(49): Show | a0001c0001t0001g0061 a0001c0001t0001g0194 a0001c0001t0001g0218 others(68): Show |
71 | 228 | 0.3114 | -20 | c.551 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25945703 | TCTCCCCT others(13): Show |
T | intron_variant | MODIFIER | HG03453.hp2 HG03516.hp2 NA21309.hp2 |
a0006a0011a0037 | a0006c0017a0011c0138a0037c0075 | a0006c0017t0002a0011c0138t0001a0037c0075t0002 | a0006c0017t0002g0076 a0011c0138t0001g0013 a0037c0075t0002g0105 |
3 | 228 | 0.0132 | -20 | c.551 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25945862 | CCCTCCCC others(13): Show |
C | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0069 | a0001c0069t0001 | a0001c0069t0001g0032 | 1 | 228 | 0.0044 | -20 | c.551 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25947487 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp2 HG02818.hp1 others(3): Show |
a0004a0006a0011others(3): Show | a0004c0053a0006c0017a0011c0138others(3): Show | a0004c0053t0001a0006c0017t0002a0011c0138t0001others(3): Show | a0004c0053t0001g0101 a0006c0017t0002g0076 a0011c0138t0001g0013 others(3): Show |
6 | 228 | 0.0263 | -20 | c.563 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 35/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25948407 | TTTCCTTC others(13): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp2 others(7): Show |
a0009a0010a0027others(4): Show | a0009c0016a0010c0018a0027c0024others(4): Show | a0009c0016t0001a0010c0018t0002a0027c0024t0002others(4): Show | a0009c0016t0001g0012 a0009c0016t0001g0066 a0010c0018t0002g0011 others(7): Show |
10 | 228 | 0.0439 | -20 | c.574 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 36/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25990707 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02809.hp2 others(5): Show |
a0004a0006a0009others(5): Show | a0004c0090a0006c0017a0009c0083others(5): Show | a0004c0090t0001a0006c0017t0001a0009c0083t0001others(5): Show | a0004c0090t0001g0018 a0006c0017t0001g0043 a0009c0083t0001g0088 others(5): Show |
8 | 228 | 0.0351 | -20 | c.615 others(39): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 26017025 | TTTCCTTC others(13): Show |
T | intron_variant | MODIFIER | HG03195.hp1 NA21309.hp2 |
a0037a0068 | a0037c0075a0068c0080 | a0037c0075t0002a0068c0080t0001 | a0037c0075t0002g0105 a0068c0080t0001g0109 |
2 | 228 | 0.0088 | -20 | c.647 others(39): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 42/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO19_chr17_36490636_36539868 | 36492678 | TCCACATT others(13): Show |
T | downstream_gene_variant | MODIFIER | HG03195.hp2 HG03209.hp2 |
a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0008 | 2 | 373 | 0.0054 | -20 | c.*35 others(31): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 2957 | chr17 | TogoVar | |||||||
MYO19_chr17_36490636_36539868 | 36518489 | GAAAAAAA others(13): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 373 | 0.0027 | -20 | c.415 others(37): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | |||||||
MYO19_chr17_36490636_36539868 | 36518513 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG04204.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0265 a0002c0002t0001g0330 |
2 | 373 | 0.0054 | -20 | c.415 others(37): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32560528 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0163 | 1 | 244 | 0.0041 | -20 | c.286 others(41): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32580289 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0032 | a0001c0001t0003g0024 a0001c0001t0032g0117 |
2 | 244 | 0.0082 | -20 | c.286 others(41): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32632570 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0139 a0001c0001t0006g0188 |
2 | 244 | 0.0082 | -20 | c.270 others(39): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 20/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32632572 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00741.hp2 others(33): Show |
a0001a0002a0009 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0064 a0001c0001t0001g0113 a0001c0001t0002g0041 others(33): Show |
36 | 244 | 0.1475 | -20 | c.270 others(39): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 20/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32632574 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01257.hp1 others(4): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0136 a0001c0001t0002g0132 a0001c0001t0009g0130 others(4): Show |
7 | 244 | 0.0287 | -20 | c.270 others(39): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 20/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32632576 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 244 | 0.0041 | -20 | c.270 others(39): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 20/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32632578 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006 | a0002c0002t0003g0028 a0002c0002t0006g0219 |
2 | 244 | 0.0082 | -20 | c.270 others(39): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 20/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32677580 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01358.hp1 HG01993.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0103 a0001c0001t0002g0128 a0001c0001t0006g0182 others(4): Show |
7 | 244 | 0.0287 | -20 | c.212 others(41): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 16/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32864007 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01123.hp1 others(18): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 others(18): Show |
21 | 244 | 0.0861 | -20 | c.95+ others(37): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 1/21 | chr17 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59151010 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01168.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0009a0001c0002t0015a0001c0002t0017others(9): Show | a0001c0001t0009g0036 a0001c0001t0009g0135 a0001c0001t0009g0167 others(13): Show |
16 | 226 | 0.0708 | -20 | c.308 others(39): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 26/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59230214 | CAGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0178 | 1 | 226 | 0.0044 | -20 | c.510 others(37): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 6/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59234229 | GATGGATG others(13): Show |
G | intron_variant | MODIFIER | HG01928.hp1 HG01952.hp2 HG01975.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0003t0002 | a0001c0001t0001g0069 a0001c0001t0008g0113 a0001c0003t0002g0042 others(1): Show |
4 | 226 | 0.0177 | -20 | c.420 others(37): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 5/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59295876 | TGGCTATG others(13): Show |
T | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 226 | 0.0044 | -20 | c.4-2 others(35): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109386995 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0233 | 1 | 312 | 0.0032 | -20 | c.13- others(35): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109406466 | TTAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02897.hp2 HG03139.hp1 others(7): Show |
a0001a0006 | a0001c0003a0006c0008 | a0001c0003t0001a0001c0003t0002a0006c0008t0001others(1): Show | a0001c0003t0001g0297 a0001c0003t0002g0250 a0001c0003t0002g0292 others(7): Show |
10 | 312 | 0.0321 | -20 | c.964 others(35): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 8/31 | chr12 | TogoVar | |||||||
MYO3A_chr10_25929229_26217532 | 26019217 | CTATTTAT others(13): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp2 HG02615.hp2 others(3): Show |
a0001a0013 | a0001c0002a0013c0020 | a0001c0002t0002a0013c0020t0002 | a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 others(3): Show |
6 | 280 | 0.0214 | -20 | c.586 others(37): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 7/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26045366 | TTAGATAG others(13): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0009 | a0009c0013 | a0009c0013t0002 | a0009c0013t0002g0268 | 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 | ||||||
MYO3B_chr2_170173147_170660167 | 170343030 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG02280.hp1 HG02559.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0067others(1): Show | a0001c0001t0020a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0001t0020g0079 a0001c0002t0003g0068 a0001c0002t0004g0153 others(2): Show |
5 | 174 | 0.0287 | -20 | c.815 others(37): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170499933 | CCCTTCCT others(13): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG03453.hp1 |
a0001a0029 | a0001c0001a0029c0068 | a0001c0001t0001a0029c0068t0017 | a0001c0001t0001g0041 a0029c0068t0017g0115 |
2 | 174 | 0.0115 | -20 | c.328 others(37): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170548106 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0121 | 1 | 174 | 0.0058 | -20 | c.373 others(39): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52324002 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG02109.hp1 others(17): Show |
a0001a0003a0011 | a0001c0006a0003c0005a0003c0011others(2): Show | a0001c0006t0011a0003c0005t0007a0003c0005t0020others(7): Show | a0001c0006t0011g0260 a0003c0005t0007g0053 a0003c0005t0007g0054 others(17): Show |
20 | 302 | 0.0662 | -20 | c.471 others(37): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 36/41 | chr15 | TogoVar | |||||||
MYO5A_chr15_52302283_52533880 | 52367870 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02165.hp1 NA18969.hp1 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0013a0001c0006t0015 | a0001c0006t0013g0003 a0001c0006t0013g0004 a0001c0006t0013g0005 others(2): Show |
5 | 302 | 0.0166 | -20 | c.306 others(37): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 22/41 | chr15 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49978694 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0024a0001c0001t0032others(1): Show | a0001c0001t0001g0007 a0001c0001t0024g0004 a0001c0001t0032g0216 others(1): Show |
4 | 238 | 0.0168 | -20 | c.105 others(39): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50030876 | GAAAAAAA others(13): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0004 | 1 | 238 | 0.0042 | -20 | c.455 others(37): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 4/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50043339 | TTATATTA others(13): Show |
T | intron_variant | MODIFIER | NA18979.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0149 | 1 | 238 | 0.0042 | -20 | c.139 others(37): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 2/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50122634 | GGAGAGAG others(13): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0224 | 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 | 50134554 | CAATAAAT others(13): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 238 | 0.0042 | -20 | c.27+ others(37): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52190778 | TAAAAAAA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01934.hp1 HG01943.hp1 HG01952.hp2 others(12): Show |
a0001a0003a0008 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0013a0001c0001t0031a0001c0003t0012others(6): Show | a0001c0001t0013g0118 a0001c0001t0031g0080 a0001c0003t0012g0025 others(12): Show |
15 | 360 | 0.0417 | -20 | c.*31 others(31): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1543 | chr15 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52240544 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02004.hp2 HG02132.hp1 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0013a0001c0006t0010a0001c0006t0012others(2): Show | a0001c0001t0013g0118 a0001c0006t0010g0074 a0001c0006t0010g0075 others(10): Show |
13 | 360 | 0.0361 | -20 | c.255 others(37): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 20/40 | chr15 | TogoVar | |||||||
MYO6_chr6_75744239_75924537 | 75757365 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0187 | 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 | 75768326 | CATTTTAT others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(107): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0001g0007 a0001c0001t0003g0093 a0001c0001t0004g0159 others(107): Show |
110 | 358 | 0.3073 | -20 | c.-48 others(39): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |