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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MICAL3_chr22_17782649_18029561 | 17877211 | GGTTATGG others(47): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0007 | a0007c0013 | a0007c0013t0006 | a0007c0013t0006g0249 | 1 | 274 | 0.0037 | -54 | c.224 others(73): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877493 | TAGGGAGG others(47): Show |
T | intron_variant | MODIFIER | HG02818.hp2 NA18906.hp2 |
a0001a0002 | a0001c0066a0002c0065 | a0001c0066t0001a0002c0065t0015 | a0001c0066t0001g0008 a0002c0065t0015g0078 |
2 | 274 | 0.0073 | -54 | c.224 others(73): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17983410 | TCATCTCT others(47): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01169.hp2 others(15): Show |
a0001a0002a0008others(4): Show | a0001c0001a0001c0002a0001c0059others(6): Show | a0001c0001t0001a0001c0002t0006a0001c0059t0003others(9): Show | a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 others(15): Show |
18 | 274 | 0.0657 | -54 | c.-75 others(73): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 1/31 | chr22 | TogoVar | |||||||
MIEF2_chr17_18255662_18271552 | 18268413 | AGGCTGCC others(47): Show |
A | downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 418 | 0.0024 | -54 | c.*36 others(65): Show |
MIEF2 | ENSG00000177427.13 | transcript | ENST00000323019.9 | protein_coding | 1862 | chr17 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79437820 | GTGGGTGT others(47): Show |
G | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0260 | 1 | 390 | 0.0026 | -54 | c.-51 others(71): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MKI67_chr10_128091659_128131423 | 128129308 | GTGTGTGT others(47): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(125): Show |
a0001a0002a0004others(23): Show | a0001c0001a0001c0081a0002c0039others(26): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0017others(36): Show | a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0028 others(60): Show |
128 | 408 | 0.3137 | -54 | c.-33 others(65): Show |
MKI67 | ENSG00000148773.14 | transcript | ENST00000368654.8 | protein_coding | 2886 | chr10 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237545052 | GGGTGGAG others(47): Show |
G | intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 286 | 0.0035 | -54 | c.154 others(73): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237557009 | TCTCTCTG others(47): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(80): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0002c0051others(19): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0002g0037 a0001c0001t0002g0094 a0001c0001t0002g0098 others(80): Show |
83 | 286 | 0.2902 | -54 | c.*34 others(65): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 1688 | chr2 | TogoVar | |||||||
MMP23B_chr1_1627173_1639654 | 1628107 | ACATCGAT others(47): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | -54 | c.-41 others(65): Show |
MMP23B | ENSG00000189409.14 | transcript | ENST00000356026.10 | protein_coding | 4065 | chr1 | TogoVar | |||||||
MN1_chr22_27743277_27806756 | 27793331 | ATTACAAA others(47): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG01891.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0044others(6): Show | a0001c0001t0001g0126 a0001c0001t0001g0230 a0001c0001t0002g0074 others(11): Show |
14 | 394 | 0.0355 | -54 | c.378 others(73): Show |
MN1 | ENSG00000169184.7 | transcript | ENST00000302326.5 | protein_coding | 1/1 | chr22 | TogoVar | |||||||
MOBP_chr3_39462680_39508027 | 39469000 | ATATATAC others(47): Show |
A | intron_variant | MODIFIER | HG02717.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0060 |
2 | 400 | 0.0050 | -54 | c.-89 others(71): Show |
MOBP | ENSG00000168314.19 | transcript | ENST00000684792.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MOCS2_chr5_53090679_53114757 | 53100342 | GGGATTTA others(47): Show |
G | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 426 | 0.0024 | -54 | c.501 others(67): Show |
MOCS2 | ENSG00000164172.20 | transcript | ENST00000396954.8 | protein_coding | 6/6 | chr5 | TogoVar | |||||||
MOCS2_chr5_53090679_53114757 | 53102580 | GGGTGGGT others(47): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00597.hp2 others(61): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(11): Show | a0001c0001t0003g0059 a0001c0001t0004g0007 a0001c0001t0004g0028 others(19): Show |
64 | 426 | 0.1502 | -54 | c.99- others(67): Show |
MOCS2 | ENSG00000164172.20 | transcript | ENST00000396954.8 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
MPP7_chr10_28045993_28308064 | 28262205 | ATACATAT others(47): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp2 HG02451.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0140 others(10): Show |
13 | 300 | 0.0433 | -54 | c.-13 others(75): Show |
MPP7 | ENSG00000150054.19 | transcript | ENST00000683449.1 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
MRGBP_chr20_62791473_62806729 | 62804921 | AGGACGAG others(47): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | -54 | c.*52 others(65): Show |
MRGBP | ENSG00000101189.7 | transcript | ENST00000370487.5 | protein_coding | 3193 | chr20 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144206465 | CAGGCTGG others(47): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0052 | 1 | 140 | 0.0071 | -54 | c.114 others(73): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | chr8 | TogoVar | |||||||
MRPL45_chr17_38292168_38328211 | 38313331 | TACATATA others(47): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215 | 1 | 287 | 0.0035 | -54 | c.462 others(71): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MS4A14_chr11_60391459_60422756 | 60418981 | ATATATAT others(47): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0008 | a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0116 others(4): Show |
13 | 428 | 0.0304 | -54 | c.*19 others(65): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 1226 | chr11 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16103075 | ATGTGTAT others(47): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0015others(2): Show | a0001c0001t0003a0001c0003t0003a0001c0003t0020others(4): Show | a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0032 others(28): Show |
31 | 330 | 0.0939 | -54 | c.*69 others(65): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 4805 | chr8 | TogoVar | |||||||
MSRB2_chr10_23090579_23127013 | 23111785 | CAATTTAA others(47): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(213): Show |
284 | 442 | 0.6425 | -54 | c.296 others(71): Show |
MSRB2 | ENSG00000148450.13 | transcript | ENST00000376510.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MSRB2_chr10_23090579_23127013 | 23111866 | AAATTTAA others(47): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 442 | 0.0023 | -54 | c.296 others(71): Show |
MSRB2 | ENSG00000148450.13 | transcript | ENST00000376510.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56568203 | GAGAGAGA others(47): Show |
G | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 428 | 0.0023 | -54 | c.97+ others(67): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56568261 | GAGAGAGA others(47): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0130 | 1 | 428 | 0.0023 | -54 | c.97+ others(67): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTHFS_chr15_79838547_79902014 | 79840185 | ATATATAT others(47): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp2 NA18947.hp2 NA18949.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0032 a0001c0001t0001g0036 others(6): Show |
11 | 394 | 0.0279 | -54 | c.*49 others(65): Show |
MTHFS | ENSG00000136371.11 | transcript | ENST00000258874.4 | protein_coding | 3361 | chr15 | TogoVar | |||||||
MTIF3_chr13_27430643_27455564 | 27445072 | TGAGCATT others(47): Show |
T | splice_donor_variant others(3): Show |
HIGH | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0201 | 1 | 414 | 0.0024 | -54 | c.-40 others(63): Show |
MTIF3 | ENSG00000122033.15 | transcript | ENST00000381120.8 | protein_coding | 2/5 | 4625 | chr13 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110226481 | CGTGAGGG others(47): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01261.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 a0001c0001t0004g0007 a0001c0001t0004g0010 others(21): Show |
24 | 372 | 0.0645 | -54 | c.275 others(71): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4672114 | TATATTCA others(47): Show |
T | upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0146 | 1 | 410 | 0.0024 | -54 | c.-18 others(65): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1773 | chr19 | TogoVar | |||||||
MYO15B_chr17_75582800_75631849 | 75589372 | GACGAGGG others(47): Show |
G | disruptive_inframe_deletion | MODERATE | HG00639.hp1 HG00741.hp1 HG01070.hp1 others(14): Show |
a0005a0051a0062others(1): Show | a0005c0009a0005c0013a0005c0142others(7): Show | a0005c0009t0001a0005c0013t0001a0005c0142t0001others(7): Show | a0005c0009t0001g0201 a0005c0009t0001g0242 a0005c0009t0001g0248 others(14): Show |
17 | 384 | 0.0443 | -54 | c.132 others(63): Show |
p.Arg others(13): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 1581/9914 | 1323/9291 | 441/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
MYO16_chr13_108624611_109213005 | 108997310 | AAGAAAGA others(47): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02965.hp2 HG02976.hp2 others(2): Show |
a0001a0011 | a0001c0002a0001c0022a0001c0059others(1): Show | a0001c0002t0006a0001c0022t0003a0001c0059t0008others(1): Show | a0001c0002t0006g0068 a0001c0022t0003g0064 a0001c0059t0008g0047 others(2): Show |
5 | 152 | 0.0329 | -54 | c.244 others(73): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108997314 | AAGAAAGA others(47): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(69): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0061a0001c0067others(32): Show | a0001c0002t0001a0001c0002t0004a0001c0061t0001others(50): Show | a0001c0002t0001g0001 a0001c0002t0004g0048 a0001c0061t0001g0031 others(69): Show |
72 | 152 | 0.4737 | -54 | c.244 others(73): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108997318 | AAGAAAGA others(47): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp1 HG01109.hp1 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0020a0003c0019others(3): Show | a0001c0002t0002a0002c0020t0003a0003c0019t0002others(3): Show | a0001c0002t0002g0008 a0002c0020t0003g0042 a0003c0019t0002g0099 others(4): Show |
7 | 152 | 0.0461 | -54 | c.244 others(73): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543723 | GTGCTGGT others(47): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0282 | 1 | 342 | 0.0029 | -54 | c.152 others(71): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543894 | GTGCTGGT others(47): Show |
G | intron_variant | MODIFIER | NA18972.hp1 NA18975.hp2 NA18998.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0006 | a0001c0001t0002a0001c0001t0006a0002c0004t0002others(1): Show | a0001c0001t0002g0167 a0001c0001t0006g0296 a0002c0004t0002g0222 others(1): Show |
4 | 342 | 0.0117 | -54 | c.152 others(71): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543970 | TGCTGGTG others(47): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0153 | 1 | 342 | 0.0029 | -54 | c.152 others(71): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8574541 | TTCTTTCT others(47): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00639.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0145 a0001c0001t0001g0192 a0001c0001t0001g0193 others(48): Show |
51 | 342 | 0.1491 | -54 | c.3+2 others(67): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | |||||||
MYO3B_chr2_170173147_170660167 | 170649020 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG03130.hp2 |
a0001 | a0001c0014a0001c0066 | a0001c0014t0002a0001c0066t0002 | a0001c0014t0002g0014 a0001c0066t0002g0132 |
2 | 174 | 0.0115 | -54 | c.373 others(73): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO7B_chr2_127530683_127642726 | 127634690 | AGGCCTCT others(47): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02559.hp2 |
a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0104 a0008c0015t0001g0164 a0008c0015t0001g0165 |
3 | 282 | 0.0106 | -54 | c.571 others(69): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93335574 | TTCAAGGC others(47): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01168.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0012 | a0001c0002t0001a0001c0003t0002a0001c0012t0001others(1): Show | a0001c0002t0001g0106 a0001c0003t0002g0173 a0001c0003t0002g0204 others(5): Show |
8 | 240 | 0.0333 | -54 | c.456 others(71): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 41/53 | chr10 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2085868 | TGTGATCT others(47): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0118 | 1 | 403 | 0.0025 | -54 | c.164 others(71): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086315 | CGTGATCT others(47): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01358.hp2 NA20752.hp1 |
a0004a0008a0009 | a0004c0007a0008c0008a0009c0011 | a0004c0007t0001a0008c0008t0001a0009c0011t0002 | a0004c0007t0001g0236 a0008c0008t0001g0111 a0009c0011t0002g0305 |
3 | 403 | 0.0074 | -54 | c.164 others(71): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086333 | CCCCACTG others(47): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG01952.hp2 others(3): Show |
a0001a0026a0098 | a0001c0002a0001c0020a0001c0085others(2): Show | a0001c0002t0001a0001c0020t0002a0001c0085t0001others(2): Show | a0001c0002t0001g0009 a0001c0020t0002g0249 a0001c0085t0001g0350 others(2): Show |
6 | 403 | 0.0149 | -54 | c.164 others(72): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086390 | CACTGTTG others(47): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0330 | 1 | 403 | 0.0025 | -54 | c.164 others(73): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086416 | CCACTGTT others(47): Show |
C | intron_variant | MODIFIER | HG02080.hp1 | a0006 | a0006c0012 | a0006c0012t0005 | a0006c0012t0005g0167 | 1 | 403 | 0.0025 | -54 | c.164 others(73): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086434 | CGTGGCCC others(47): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02257.hp1 HG02615.hp2 others(7): Show |
a0002 | a0002c0006a0002c0014a0002c0019others(3): Show | a0002c0006t0001a0002c0014t0001a0002c0019t0001others(3): Show | a0002c0006t0001g0078 a0002c0006t0001g0395 a0002c0014t0001g0191 others(7): Show |
10 | 403 | 0.0248 | -54 | c.164 others(73): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40212130 | GTATATAT others(47): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(49): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(49): Show |
52 | 170 | 0.3059 | -54 | c.190 others(73): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2186229 | ACGTGAGG others(47): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0052 a0001c0002t0003g0042 |
2 | 104 | 0.0192 | -54 | c.-42 others(75): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57687858 | TATATAAT others(47): Show |
T | downstream_gene_variant | MODIFIER | HG01255.hp1 NA18956.hp1 NA18975.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0128 a0002c0002t0005g0063 a0002c0002t0005g0070 |
3 | 352 | 0.0085 | -54 | c.*33 others(65): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2495 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57687921 | TATGTGTG others(47): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0181 |
2 | 352 | 0.0057 | -54 | c.*34 others(65): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2558 | chr15 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175698341 | GTATGTGT others(47): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0002 | 1 | 64 | 0.0156 | -54 | c.189 others(75): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAT14_chr19_55480188_55492566 | 55490052 | CGAGGGGA others(47): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 1 | 420 | 0.0024 | -54 | c.*30 others(65): Show |
NAT14 | ENSG00000090971.5 | transcript | ENST00000205194.5 | protein_coding | 2487 | chr19 | TogoVar |