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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO1D_chr17_32487522_32882124 | 32673090 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01257.hp1 others(7): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0136a0001c0001t0002g0132a0001c0001t0003g0131others(7): Show | 10 | 244 | 0.0410 | -8 | c.212 others(29): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 16/21 | chr17 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32686964 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp2 others(29): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0014others(29): Show | 32 | 244 | 0.1312 | -8 | c.212 others(29): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 16/21 | chr17 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32735081 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG03471.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0142a0001c0001t0003g0111 | 2 | 244 | 0.0082 | -8 | c.174 others(27): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 14/21 | chr17 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59151010 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01071.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0002t0002others(10): Show | a0001c0001t0003g0183a0001c0001t0005g0181a0001c0002t0002g0145others(15): Show | 18 | 226 | 0.0797 | -8 | c.308 others(27): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 26/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59160336 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02723.hp2 others(6): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0006a0001c0003t0007a0001c0003t0057others(3): Show | a0001c0003t0006g0142a0001c0003t0007g0023a0001c0003t0057g0224others(6): Show | 9 | 226 | 0.0398 | -8 | c.278 others(25): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 24/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59209813 | ACCTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0010a0001c0003t0006others(1): Show | a0001c0001t0001g0024a0001c0002t0010g0004a0001c0002t0010g0005others(3): Show | 6 | 226 | 0.0266 | -8 | c.136 others(25): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 13/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59213140 | TTATTATT others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02809.hp1 HG03195.hp2 others(6): Show |
a0001 | a0001c0003a0001c0004a0001c0015 | a0001c0003t0006a0001c0003t0013a0001c0003t0050others(4): Show | a0001c0003t0006g0142a0001c0003t0013g0210a0001c0003t0013g0211others(6): Show | 9 | 226 | 0.0398 | -8 | c.127 others(27): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 12/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216594 | GTATCTAT others(1): Show |
G | intron_variant | MODIFIER | HG03195.hp1 HG03225.hp1 NA20129.hp1 |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0007a0001c0004t0030 | a0001c0004t0002g0062a0001c0004t0007g0034a0001c0004t0030g0010 | 3 | 226 | 0.0133 | -8 | c.110 others(27): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216666 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG03225.hp1 NA18946.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0014a0001c0004t0030 | a0001c0001t0014g0013a0001c0004t0030g0010 | 2 | 226 | 0.0089 | -8 | c.110 others(27): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59230216 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG03225.hp1 NA19030.hp2 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0007a0001c0004t0030a0001c0011t0031 | a0001c0004t0007g0147a0001c0004t0030g0010a0001c0011t0031g0012 | 3 | 226 | 0.0133 | -8 | c.510 others(25): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 6/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59234241 | GATGGGTG others(1): Show |
G | intron_variant | MODIFIER | HG03471.hp2 NA18945.hp1 NA18963.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0018 | a0001c0001t0001a0001c0001t0005a0001c0004t0002others(1): Show | a0001c0001t0001g0055a0001c0001t0005g0191a0001c0004t0002g0163others(1): Show | 4 | 226 | 0.0177 | -8 | c.420 others(25): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 5/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59236369 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02809.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0006others(1): Show | a0001c0001t0001g0033a0001c0002t0001g0037a0001c0003t0006g0142others(1): Show | 4 | 226 | 0.0177 | -8 | c.420 others(23): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 5/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282959 | GGAGGGGA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG01081.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0038a0001c0001t0001g0047a0001c0001t0001g0068others(19): Show | 22 | 226 | 0.0974 | -8 | c.4-1 others(23): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59328533 | ACATAAAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(76): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0024a0001c0001t0001g0027a0001c0001t0001g0030others(76): Show | 79 | 226 | 0.3496 | -8 | c.3+4 others(23): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8556482 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01123.hp1 HG01346.hp1 others(3): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0055a0001c0001t0001g0211a0001c0001t0002g0080others(3): Show | 6 | 342 | 0.0175 | -8 | c.4-6 others(19): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574530 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0105a0001c0001t0002g0110a0001c0001t0003g0078 | 3 | 342 | 0.0088 | -8 | c.3+2 others(21): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574595 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02451.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0005 | a0001c0001t0003g0088a0001c0001t0004g0108a0001c0002t0005g0115others(1): Show | 4 | 342 | 0.0117 | -8 | c.3+2 others(21): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109386995 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01433.hp1 HG01516.hp2 others(6): Show |
a0001a0006 | a0001c0003a0001c0004a0006c0008 | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(3): Show | a0001c0003t0001g0310a0001c0003t0002g0252a0001c0003t0002g0253others(6): Show | 9 | 312 | 0.0289 | -8 | c.13- others(23): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109406466 | TTAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01081.hp1 others(11): Show |
a0001a0002a0003 | a0001c0003a0001c0006a0002c0026others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(3): Show | a0001c0003t0001g0248a0001c0003t0001g0259a0001c0003t0001g0260others(11): Show | 14 | 312 | 0.0449 | -8 | c.964 others(23): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 8/31 | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109409243 | CTTCTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01167.hp1 others(15): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0003t0002a0001c0005t0001 | a0001c0003t0001g0248a0001c0003t0001g0254a0001c0003t0001g0259others(15): Show | 18 | 312 | 0.0577 | -8 | c.115 others(25): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 10/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427881 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01071.hp1 others(22): Show |
a0001a0003 | a0001c0004a0001c0005a0001c0012others(1): Show | a0001c0004t0002a0001c0005t0002a0001c0012t0001others(3): Show | a0001c0004t0002g0234a0001c0005t0002g0021a0001c0012t0001g0057others(22): Show | 25 | 312 | 0.0801 | -8 | c.194 others(25): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109438632 | GGTACAAC others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG03195.hp1 others(2): Show |
a0001a0013 | a0001c0003a0001c0004a0013c0020 | a0001c0003t0001a0001c0003t0002a0001c0004t0009others(1): Show | a0001c0003t0001g0248a0001c0003t0002g0311a0001c0004t0009g0216others(2): Show | 5 | 312 | 0.0160 | -8 | c.229 others(23): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 23/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109443170 | ACGTATGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp2 others(93): Show |
a0001a0003a0007others(1): Show | a0001c0003a0001c0004a0001c0005others(7): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(17): Show | a0001c0003t0001g0259a0001c0003t0001g0260a0001c0003t0001g0262others(93): Show | 96 | 312 | 0.3077 | -8 | c.268 others(25): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109443353 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG01358.hp1 others(2): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0002 | a0001c0003t0001a0001c0004t0014a0003c0002t0001 | a0001c0003t0001g0001a0001c0003t0001g0066a0001c0004t0014g0199others(1): Show | 5 | 312 | 0.0160 | -8 | c.268 others(25): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109443355 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01071.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004a0001c0012 | a0001c0003t0002a0001c0004t0002a0001c0012t0001 | a0001c0003t0002g0311a0001c0004t0002g0161a0001c0004t0002g0234others(1): Show | 4 | 312 | 0.0128 | -8 | c.268 others(25): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 25975759 | GTTAAAAC others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG03453.hp1 |
a0014a0015 | a0014c0019a0015c0020 | a0014c0019t0004a0015c0020t0004 | a0014c0019t0004g0221a0014c0019t0004g0222a0015c0020t0004g0250 | 3 | 280 | 0.0107 | -8 | c.304 others(27): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 4/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26019217 | CTATTTAT others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01891.hp2 others(19): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0008others(5): Show | a0002c0002t0001a0003c0003t0016a0004c0008t0007others(8): Show | a0002c0002t0001g0226a0002c0002t0001g0244a0002c0002t0001g0245others(19): Show | 22 | 280 | 0.0786 | -8 | c.586 others(25): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 7/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26039021 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(23): Show |
a0004a0006a0013others(3): Show | a0004c0005a0004c0008a0006c0006others(4): Show | a0004c0005t0002a0004c0005t0006a0004c0008t0007others(6): Show | a0004c0005t0002g0172a0004c0005t0002g0173a0004c0005t0002g0174others(23): Show | 26 | 280 | 0.0929 | -8 | c.953 others(27): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26043149 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01928.hp1 HG01934.hp1 others(10): Show |
a0002a0024a0025 | a0002c0002a0024c0026a0025c0029 | a0002c0002t0001a0024c0026t0001a0025c0029t0001 | a0002c0002t0001g0192a0002c0002t0001g0195a0002c0002t0001g0196others(10): Show | 13 | 280 | 0.0464 | -8 | c.953 others(27): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26045366 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00639.hp1 others(66): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0027others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0120a0001c0001t0001g0134a0001c0001t0001g0135others(65): Show | 69 | 280 | 0.2464 | -8 | c.953 others(27): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26060276 | AATACATA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01256.hp1 others(8): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0017a0006c0006others(1): Show | a0001c0001t0002a0004c0017t0011a0006c0006t0001others(1): Show | a0001c0001t0002g0124a0001c0001t0002g0125a0001c0001t0002g0126others(8): Show | 11 | 280 | 0.0393 | -8 | c.954 others(25): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26060298 | TAAATTTA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(57): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0025a0004c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0107a0001c0001t0001g0114others(57): Show | 60 | 280 | 0.2143 | -8 | c.954 others(25): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170174269 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp2 HG01192.hp2 HG01361.hp1 others(17): Show |
a0001a0002a0003others(6): Show | a0001c0005a0002c0010a0002c0018others(10): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0005others(12): Show | a0001c0005t0001g0089a0001c0005t0001g0094a0001c0005t0001g0095others(17): Show | 20 | 174 | 0.1149 | -8 | c.-40 others(19): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 3877 | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170255325 | TCTCTTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01099.hp2 others(16): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0005others(13): Show | a0001c0002t0001a0001c0002t0004a0001c0004t0001others(15): Show | a0001c0002t0001g0152a0001c0002t0004g0143a0001c0004t0001g0104others(16): Show | 19 | 174 | 0.1092 | -8 | c.749 others(27): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 7/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170343030 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG03471.hp2 |
a0001a0006 | a0001c0066a0006c0078 | a0001c0066t0002a0006c0078t0001 | a0001c0066t0002g0132a0006c0078t0001g0111 | 2 | 174 | 0.0115 | -8 | c.815 others(25): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170370624 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(28): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0041a0001c0001t0002g0026a0001c0001t0003g0029others(28): Show | 31 | 174 | 0.1782 | -8 | c.971 others(25): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170399263 | AAAAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG01069.hp1 others(19): Show |
a0001a0004a0006others(4): Show | a0001c0004a0001c0007a0001c0011others(11): Show | a0001c0004t0009a0001c0007t0001a0001c0007t0002others(16): Show | a0001c0004t0009g0002a0001c0007t0001g0025a0001c0007t0002g0050others(19): Show | 22 | 174 | 0.1264 | -8 | c.179 others(25): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170417908 | GACACAAT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01192.hp1 others(9): Show |
a0001a0018a0022 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0010others(9): Show | a0001c0001t0001g0030a0001c0002t0001g0164a0001c0002t0010g0138others(9): Show | 12 | 174 | 0.0690 | -8 | c.265 others(29): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170453409 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG03130.hp1 HG03491.hp2 others(1): Show |
a0001a0005 | a0001c0004a0001c0027a0005c0012others(1): Show | a0001c0004t0004a0001c0027t0004a0005c0012t0012others(1): Show | a0001c0004t0004g0011a0001c0027t0004g0116a0005c0012t0012g0161others(1): Show | 4 | 174 | 0.0230 | -8 | c.273 others(27): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170474743 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02896.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0002t0004others(2): Show | a0001c0001t0004g0123a0001c0001t0006g0134a0001c0002t0004g0153others(2): Show | 5 | 174 | 0.0287 | -8 | c.301 others(27): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170478522 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0002g0054others(15): Show | 18 | 174 | 0.1035 | -8 | c.301 others(29): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170478889 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(50): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0008a0001c0001t0001g0041a0001c0001t0001g0065others(50): Show | 53 | 174 | 0.3046 | -8 | c.301 others(29): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170485416 | CACACAGA others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp2 NA20129.hp1 |
a0001a0009 | a0001c0028a0009c0016 | a0001c0028t0001a0009c0016t0006 | a0001c0028t0001g0083a0009c0016t0006g0007 | 2 | 174 | 0.0115 | -8 | c.301 others(29): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170489668 | TCTGGGTA others(1): Show |
T | intron_variant | MODIFIER | HG03098.hp1 NA20129.hp1 |
a0001a0030 | a0001c0028a0030c0051 | a0001c0028t0001a0030c0051t0004 | a0001c0028t0001g0083a0030c0051t0004g0130 | 2 | 174 | 0.0115 | -8 | c.301 others(27): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170537448 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG03486.hp1 NA18957.hp1 others(4): Show |
a0002a0004a0026 | a0002c0006a0002c0008a0002c0010others(3): Show | a0002c0006t0001a0002c0008t0003a0002c0010t0001others(3): Show | a0002c0006t0001g0017a0002c0008t0003g0027a0002c0008t0003g0043others(4): Show | 7 | 174 | 0.0402 | -8 | c.357 others(27): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170563031 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 NA20129.hp2 |
a0003a0004 | a0003c0003a0004c0013 | a0003c0003t0002a0004c0013t0001 | a0003c0003t0002g0037a0004c0013t0001g0004 | 2 | 174 | 0.0115 | -8 | c.373 others(29): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170594821 | GCGCGCGC others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG01069.hp2 |
a0001a0007 | a0001c0001a0001c0005a0007c0009 | a0001c0001t0001a0001c0005t0003a0007c0009t0001 | a0001c0001t0001g0072a0001c0005t0003g0097a0007c0009t0001g0028 | 3 | 174 | 0.0172 | -8 | c.373 others(29): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO5A_chr15_52302283_52533880 | 52324002 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp2 others(22): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0022others(14): Show | a0001c0001t0001g0162a0001c0001t0001g0172a0001c0001t0001g0183others(22): Show | 25 | 302 | 0.0828 | -8 | c.471 others(25): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 36/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52329905 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01071.hp2 HG02015.hp1 others(31): Show |
a0002a0007 | a0002c0002a0007c0027 | a0002c0002t0002a0002c0002t0006a0002c0002t0015others(4): Show | a0002c0002t0002g0081a0002c0002t0002g0082a0002c0002t0002g0083others(31): Show | 34 | 302 | 0.1126 | -8 | c.455 others(25): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 35/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52373954 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG02647.hp2 others(14): Show |
a0002a0003a0012 | a0002c0002a0003c0005a0003c0011others(3): Show | a0002c0002t0044a0003c0005t0007a0003c0005t0020others(8): Show | a0002c0002t0044g0085a0003c0005t0007g0053a0003c0005t0007g0054others(14): Show | 17 | 302 | 0.0563 | -8 | c.257 others(27): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 20/41 | chr15 | TogoVar |