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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTSS1_chr8_124545784_124733473 | 124612574 | ATGTGTGT others(21): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0166 | 1 | 286 | 0.0035 | -28 | c.209 others(47): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
MTSS2_chr16_70656204_70691053 | 70676185 | CAAGGAAG others(21): Show |
C | intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0002 | a0001c0002t0159 | a0001c0002t0159g0361 | 1 | 398 | 0.0025 | -28 | c.830 others(43): Show |
MTSS2 | ENSG00000132613.16 | transcript | ENST00000338779.11 | protein_coding | 10/14 | chr16 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 28894301 | AGAGGGGG others(21): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 92 | 0.0109 | -28 | c.-24 others(49): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MTUS2_chr13_28815339_29510947 | 29389515 | GTATGTGT others(21): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01496.hp2 HG03516.hp1 others(1): Show |
a0002a0007a0011 | a0002c0002a0007c0004a0011c0015 | a0002c0002t0025a0007c0004t0002a0007c0004t0006others(1): Show | a0002c0002t0025g0079a0007c0004t0002g0013a0007c0004t0006g0042others(1): Show | 4 | 92 | 0.0435 | -28 | c.311 others(49): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MUC15_chr11_26554032_26577263 | 26564724 | CACACACA others(21): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0339 | 1 | 466 | 0.0022 | -28 | c.775 others(43): Show |
MUC15 | ENSG00000169550.14 | transcript | ENST00000529533.6 | protein_coding | 3/4 | chr11 | TogoVar | ||||||
MUC15_chr11_26554032_26577263 | 26564728 | CACACATA others(21): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0083 | 1 | 466 | 0.0022 | -28 | c.775 others(43): Show |
MUC15 | ENSG00000169550.14 | transcript | ENST00000529533.6 | protein_coding | 3/4 | chr11 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195772172 | TCTCCATC others(21): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(129): Show |
a0002a0004a0005others(97): Show | a0002c0002a0002c0098a0002c0099others(108): Show | a0002c0002t0001a0002c0098t0001a0002c0099t0001others(108): Show | a0002c0002t0001g0002a0002c0002t0001g0120a0002c0002t0001g0128others(128): Show | 132 | 249 | 0.5301 | -28 | c.130 others(47): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
MUC6_chr11_1007823_1041718 | 1029674 | CCCTGGCT others(21): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03471.hp1 NA18522.hp2 |
a0053a0159 | a0053c0047a0159c0115 | a0053c0047t0001a0159c0115t0001 | a0053c0047t0001g0039a0159c0115t0001g0170 | 3 | 406 | 0.0074 | -28 | c.101 others(43): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 8/32 | chr11 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110681008 | ATATATAA others(21): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02040.hp2 NA18971.hp2 others(2): Show |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0003a0003c0003t0004 | a0001c0002t0003g0292a0001c0002t0003g0293a0003c0003t0004g0198others(2): Show | 5 | 326 | 0.0153 | -28 | c.80- others(43): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126496188 | CCCACCCA others(21): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0083 | 1 | 318 | 0.0031 | -28 | c.874 others(45): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVK_chr12_109568794_109603125 | 109576870 | CAAAAAAA others(21): Show |
C | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 382 | 0.0026 | -28 | c.226 others(43): Show |
MVK | ENSG00000110921.14 | transcript | ENST00000228510.8 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3307027 | CTATCTAT others(21): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp1 NA19081.hp1 |
a0003a0022 | a0003c0003a0022c0019 | a0003c0003t0001a0022c0019t0001 | a0003c0003t0001g0215a0022c0019t0001g0133 | 2 | 284 | 0.0070 | -28 | c.*26 others(39): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 1537 | chrX | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3338945 | AATAGATA others(21): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0233 | 1 | 284 | 0.0035 | -28 | c.188 others(45): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53878634 | AAAAAAAA others(21): Show |
A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01346.hp1 HG03041.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0010a0001c0001t0053others(1): Show | a0001c0001t0003g0003a0001c0001t0010g0022a0001c0001t0053g0011others(1): Show | 7 | 378 | 0.0185 | -28 | c.*41 others(39): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2200 | chr19 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53878638 | AAAAAAAA others(21): Show |
A | downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 378 | 0.0027 | -28 | c.*41 others(39): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2204 | chr19 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53879904 | GAGGGAGA others(21): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG02109.hp1 others(22): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(11): Show | a0001c0001t0002g0037a0001c0001t0006g0008a0001c0001t0006g0060others(12): Show | 25 | 378 | 0.0661 | -28 | c.*54 others(39): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 3470 | chr19 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101681568 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | NA18967.hp2 NA18980.hp1 NA18985.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0069a0001c0001t0003g0327a0001c0001t0003g0345others(4): Show | 7 | 360 | 0.0194 | -28 | c.343 others(47): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYBPC1_chr12_101589971_101691028 | 101681570 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0086 | 1 | 360 | 0.0028 | -28 | c.343 others(47): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYBPC2_chr19_50427892_50471321 | 50456309 | CATCCATC others(21): Show |
C | intron_variant | MODIFIER | NA19074.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0313 | 1 | 396 | 0.0025 | -28 | c.233 others(45): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 20/27 | chr19 | TogoVar | ||||||
MYBPC2_chr19_50427892_50471321 | 50456334 | GTCTGTCC others(21): Show |
G | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 396 | 0.0025 | -28 | c.233 others(45): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYDGF_chr19_4652545_4675342 | 4672002 | TATATATA others(21): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(17): Show | 23 | 410 | 0.0561 | -28 | c.-16 others(39): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1661 | chr19 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4672112 | TATATATT others(21): Show |
T | upstream_gene_variant | MODIFIER | NA18952.hp2 NA18994.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177a0001c0001t0001g0288a0001c0001t0001g0289 | 3 | 410 | 0.0073 | -28 | c.-18 others(39): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1771 | chr19 | TogoVar | ||||||
MYH10_chr17_8469224_8635725 | 8511015 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 274 | 0.0037 | -28 | c.295 others(47): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 24/42 | chr17 | TogoVar | ||||||
MYH11_chr16_15698135_15862028 | 15788794 | ATATATGT others(21): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01123.hp1 others(28): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0001c0005others(9): Show | a0001c0002t0001a0001c0004t0002a0001c0005t0001others(10): Show | a0001c0002t0001g0177a0001c0004t0002g0175a0001c0005t0001g0155others(28): Show | 31 | 297 | 0.1044 | -28 | c.531 others(45): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 4/40 | chr16 | TogoVar | ||||||
MYH13_chr17_10295865_10378006 | 10300405 | CAAAAAAA others(21): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02080.hp1 HG02486.hp1 |
a0001a0002a0005 | a0001c0089a0002c0001a0005c0016 | a0001c0089t0001a0002c0001t0001a0005c0016t0001 | a0001c0089t0001g0184a0002c0001t0001g0349a0005c0016t0001g0091 | 3 | 382 | 0.0079 | -28 | c.*51 others(37): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 459 | chr17 | TogoVar | ||||||
MYH14_chr19_50198622_50315540 | 50251504 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01243.hp2 others(16): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(15): Show | a0001c0001t0002g0069a0001c0001t0005g0057a0001c0002t0001g0213others(16): Show | 19 | 298 | 0.0638 | -28 | c.183 others(45): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 15/42 | chr19 | TogoVar | ||||||
MYH9_chr22_36276280_36392967 | 36384605 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0007 | a0007c0018 | a0007c0018t0008 | a0007c0018t0008g0219 | 1 | 242 | 0.0041 | -28 | c.-20 others(45): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | ||||||
MYL1_chr2_210285150_210320174 | 210308399 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 398 | 0.0025 | -28 | c.133 others(45): Show |
MYL1 | ENSG00000168530.16 | transcript | ENST00000352451.4 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123607543 | ACATTTTA others(21): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00673.hp1 others(34): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0069others(16): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(27): Show | a0001c0001t0002g0064a0001c0001t0002g0084a0001c0001t0002g0085others(34): Show | 37 | 156 | 0.2372 | -28 | c.*65 others(39): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2505 | chr3 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123607891 | TTATATAT others(21): Show |
T | downstream_gene_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0016 | a0005c0016t0051 | a0005c0016t0051g0112 | 1 | 156 | 0.0064 | -28 | c.*61 others(39): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2157 | chr3 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16796414 | AAGAAAGG others(21): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0054 | a0002c0054t0052 | a0002c0054t0052g0157 | 1 | 272 | 0.0037 | -28 | c.280 others(45): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 3/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16889478 | AGAAGGAA others(21): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(104): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0015others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(98): Show | a0001c0001t0001g0071a0001c0001t0001g0099a0001c0001t0001g0108others(104): Show | 107 | 272 | 0.3934 | -28 | c.22- others(45): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16891355 | GGAAGGAA others(21): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02486.hp2 others(2): Show |
a0001a0004a0025 | a0001c0025a0001c0043a0004c0004others(2): Show | a0001c0025t0149a0001c0043t0090a0004c0004t0148others(2): Show | a0001c0025t0149g0025a0001c0043t0090g0142a0004c0004t0148g0014others(2): Show | 5 | 272 | 0.0184 | -28 | c.22- others(45): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16895753 | AACACACA others(21): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(45): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0016others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0071a0001c0001t0002g0093a0001c0001t0003g0030others(45): Show | 48 | 272 | 0.1765 | -28 | c.22- others(45): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108652148 | TGTGTGTG others(21): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 152 | 0.0066 | -28 | c.29- others(45): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108740166 | CCATTGTT others(21): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(100): Show |
a0001a0002a0003others(24): Show | a0001c0002a0001c0005a0001c0007others(49): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(75): Show | a0001c0002t0001g0012a0001c0002t0001g0045a0001c0002t0002g0002others(100): Show | 103 | 152 | 0.6776 | -28 | c.507 others(47): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 4/34 | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108936085 | TTTCCTTC others(21): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02965.hp1 NA19240.hp1 |
a0001a0002a0005 | a0001c0002a0002c0001a0005c0037 | a0001c0002t0012a0002c0001t0001a0005c0037t0016 | a0001c0002t0012g0041a0002c0001t0001g0139a0005c0037t0016g0133 | 3 | 152 | 0.0197 | -28 | c.192 others(49): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108972330 | CTATATAT others(21): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0070 | a0002c0070t0001 | a0002c0070t0001g0063 | 1 | 152 | 0.0066 | -28 | c.236 others(47): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109008390 | ACTATCTT others(21): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG03579.hp2 others(1): Show |
a0001a0006 | a0001c0002a0001c0008a0001c0061others(1): Show | a0001c0002t0001a0001c0008t0004a0001c0061t0001others(1): Show | a0001c0002t0001g0001a0001c0008t0004g0058a0001c0061t0001g0031others(1): Show | 4 | 152 | 0.0263 | -28 | c.244 others(45): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109117412 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 NA19011.hp2 |
a0002a0014a0031 | a0002c0051a0014c0057a0031c0027 | a0002c0051t0001a0014c0057t0001a0031c0027t0010 | a0002c0051t0001g0088a0014c0057t0001g0023a0031c0027t0010g0081 | 3 | 152 | 0.0197 | -28 | c.343 others(47): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO1B_chr2_191240404_191430386 | 191326770 | ATGTGTGT others(21): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp2 HG02145.hp2 others(7): Show |
a0001a0005 | a0001c0002a0001c0005a0005c0020 | a0001c0002t0007a0001c0005t0001a0001c0005t0005others(2): Show | a0001c0002t0007g0160a0001c0005t0001g0051a0001c0005t0001g0157others(7): Show | 10 | 170 | 0.0588 | -28 | c.252 others(45): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO1D_chr17_32487522_32882124 | 32639363 | TTGTGTGT others(21): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0117 | 1 | 244 | 0.0041 | -28 | c.259 others(45): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 19/21 | chr17 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574553 | TTCTTTCT others(21): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0019 | a0001c0001t0001g0131a0001c0003t0019g0125 | 2 | 342 | 0.0059 | -28 | c.3+2 others(41): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574595 | CTCTTTCT others(21): Show |
C | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 | 1 | 342 | 0.0029 | -28 | c.3+2 others(41): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574621 | CTTTCTTT others(21): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0277 | 1 | 342 | 0.0029 | -28 | c.3+2 others(41): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170510669 | TGTGAAGG others(21): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00621.hp1 others(59): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0004others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0008a0001c0001t0001g0065a0001c0001t0001g0066others(59): Show | 62 | 174 | 0.3563 | -28 | c.337 others(47): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170563112 | TCACACAT others(21): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0006 | a0002c0006t0013 | a0002c0006t0013g0006 | 1 | 174 | 0.0058 | -28 | c.373 others(49): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170649047 | TTATATAA others(21): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01934.hp1 HG02809.hp1 others(4): Show |
a0001a0005a0008others(1): Show | a0001c0004a0001c0005a0001c0011others(4): Show | a0001c0004t0002a0001c0005t0002a0001c0011t0001others(4): Show | a0001c0004t0002g0149a0001c0005t0002g0092a0001c0011t0001g0140others(4): Show | 7 | 174 | 0.0402 | -28 | c.373 others(47): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO5B_chr18_49817789_50200147 | 49884057 | GCCAAATA others(21): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(133): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0013others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(47): Show | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0018others(133): Show | 136 | 238 | 0.5714 | -28 | c.304 others(47): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 22/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50122634 | GGAGAGAG others(21): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01070.hp1 HG01081.hp1 others(22): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0025a0001c0002t0001others(12): Show | a0001c0001t0001g0185a0001c0001t0001g0189a0001c0001t0025g0190others(22): Show | 25 | 238 | 0.1050 | -28 | c.28- others(45): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar |