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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYH13_chr17_10295865_10378006 | 10323787 | AAAGAAGA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01243.hp2 HG01346.hp2 others(32): Show |
a0001a0002a0003others(11): Show | a0001c0007a0001c0012a0001c0022others(21): Show | a0001c0007t0001a0001c0012t0001a0001c0022t0001others(21): Show | a0001c0007t0001g0307a0001c0012t0001g0267a0001c0012t0001g0272others(32): Show | 35 | 382 | 0.0916 | -9 | c.293 others(26): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 23/40 | chr17 | TogoVar | ||||||
MYH13_chr17_10295865_10378006 | 10324756 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(61): Show |
a0001a0002a0003others(15): Show | a0001c0003a0001c0004a0001c0050others(20): Show | a0001c0003t0001a0001c0004t0001a0001c0050t0001others(20): Show | a0001c0003t0001g0008a0001c0003t0001g0032a0001c0003t0001g0043others(61): Show | 64 | 382 | 0.1675 | -9 | c.269 others(26): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 22/40 | chr17 | TogoVar | ||||||
MYH13_chr17_10295865_10378006 | 10343088 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(74): Show |
a0001a0002a0003others(18): Show | a0001c0003a0001c0004a0001c0050others(27): Show | a0001c0003t0001a0001c0004t0001a0001c0050t0001others(27): Show | a0001c0003t0001g0008a0001c0003t0001g0032a0001c0003t0001g0043others(74): Show | 77 | 382 | 0.2016 | -9 | c.189 others(26): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 16/40 | chr17 | TogoVar | ||||||
MYH3_chr17_10623532_10662309 | 10632107 | TTTGTTTT others(2): Show |
T | intron_variant | MODIFIER | NA18974.hp1 NA19081.hp2 NA19088.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0041a0001c0010t0001g0178 | 3 | 380 | 0.0079 | -9 | c.495 others(25): Show |
MYH3 | ENSG00000109063.15 | transcript | ENST00000583535.6 | protein_coding | 34/40 | chr17 | TogoVar | ||||||
MYH3_chr17_10623532_10662309 | 10654669 | ACCCTGGA others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG03195.hp1 |
a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0033a0002c0009t0001g0146 | 3 | 380 | 0.0079 | -9 | c.204 others(24): Show |
MYH3 | ENSG00000109063.15 | transcript | ENST00000583535.6 | protein_coding | 3/40 | chr17 | TogoVar | ||||||
MYH6_chr14_23376987_23413273 | 23397932 | CTCTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01167.hp1 others(25): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(7): Show | a0001c0001t0001g0024a0001c0001t0001g0185a0001c0001t0001g0186others(21): Show | 28 | 370 | 0.0757 | -9 | c.189 others(26): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | ||||||
MYH9_chr22_36276280_36392967 | 36384610 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02109.hp1 HG02257.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(2): Show | a0001c0001t0003g0045a0001c0001t0003g0046a0001c0001t0003g0047others(6): Show | 9 | 242 | 0.0372 | -9 | c.-20 others(26): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | ||||||
MYH9_chr22_36276280_36392967 | 36384612 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(32): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0062a0001c0001t0002g0033a0001c0001t0002g0059others(32): Show | 35 | 242 | 0.1446 | -9 | c.-20 others(26): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | ||||||
MYL4_chr17_47204348_47228679 | 47225855 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0031a0001c0001t0001g0060others(2): Show | 12 | 414 | 0.0290 | -9 | c.*23 others(20): Show |
MYL4 | ENSG00000198336.9 | transcript | ENST00000393450.5 | protein_coding | 2177 | chr17 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123607932 | TATATATA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0006t0001 | a0001c0005t0001g0024a0001c0006t0001g0036 | 2 | 156 | 0.0128 | -9 | c.*61 others(20): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2116 | chr3 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123728582 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02257.hp2 others(14): Show |
a0001a0003a0004others(5): Show | a0001c0021a0003c0013a0004c0010others(8): Show | a0001c0021t0005a0003c0013t0002a0003c0013t0005others(12): Show | a0001c0021t0005g0016a0003c0013t0002g0053a0003c0013t0005g0089others(14): Show | 17 | 156 | 0.1090 | -9 | c.151 others(28): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 11/33 | chr3 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123736686 | TGACTTGA others(2): Show |
T | intron_variant | MODIFIER | HG02080.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084a0001c0001t0002g0085 | 2 | 156 | 0.0128 | -9 | c.754 others(24): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 8/33 | chr3 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16663328 | GTTTTTTT others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02572.hp1 HG02886.hp1 HG02965.hp1 others(2): Show |
a0001a0006a0014others(2): Show | a0001c0044a0006c0009a0014c0017others(2): Show | a0001c0044t0044a0006c0009t0117a0014c0017t0116others(2): Show | a0001c0044t0044g0061a0006c0009t0117g0174a0014c0017t0116g0006others(2): Show | 5 | 272 | 0.0184 | -9 | c.*33 others(20): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 41/41 | 3355 | chr5 | TogoVar | |||||
MYO10_chr5_16656907_16941288 | 16771547 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 NA18522.hp1 others(1): Show |
a0001a0003a0005 | a0001c0022a0003c0006a0005c0005 | a0001c0022t0046a0001c0022t0157a0003c0006t0029others(1): Show | a0001c0022t0046g0242a0001c0022t0157g0265a0003c0006t0029g0134others(1): Show | 4 | 272 | 0.0147 | -9 | c.931 others(26): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 9/40 | chr5 | TogoVar | ||||||
MYO15A_chr17_18103756_18184800 | 18169115 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00544.hp2 others(59): Show |
a0002a0003a0006others(10): Show | a0002c0023a0003c0002a0006c0008others(12): Show | a0002c0023t0002a0003c0002t0002a0003c0002t0010others(13): Show | a0002c0023t0002g0286a0002c0023t0002g0294a0003c0002t0002g0009others(59): Show | 62 | 328 | 0.1890 | -9 | c.100 others(30): Show |
MYO15A | ENSG00000091536.20 | transcript | ENST00000647165.2 | protein_coding | 62/65 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYO15A_chr17_18103756_18184800 | 18169151 | TAATAATA others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG00741.hp2 others(31): Show |
a0005a0006a0009others(8): Show | a0005c0005a0006c0013a0009c0044others(9): Show | a0005c0005t0005a0006c0013t0005a0006c0013t0006others(10): Show | a0005c0005t0005g0118a0005c0005t0005g0120a0005c0005t0005g0122others(31): Show | 34 | 328 | 0.1037 | -9 | c.100 others(30): Show |
MYO15A | ENSG00000091536.20 | transcript | ENST00000647165.2 | protein_coding | 62/65 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYO15B_chr17_75582800_75631849 | 75607431 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01891.hp2 NA19030.hp2 |
a0003a0097a0118 | a0003c0126a0097c0092a0118c0073 | a0003c0126t0002a0097c0092t0003a0118c0073t0001 | a0003c0126t0002g0059a0097c0092t0003g0344a0118c0073t0001g0075 | 3 | 384 | 0.0078 | -9 | c.429 others(28): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 21/63 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108700348 | AAAGAAGA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01169.hp1 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0007a0001c0017others(8): Show | a0001c0002t0001a0001c0007t0001a0001c0017t0020others(8): Show | a0001c0002t0001g0045a0001c0007t0001g0010a0001c0017t0020g0117others(8): Show | 11 | 152 | 0.0724 | -9 | c.293 others(28): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108753370 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01169.hp2 others(10): Show |
a0001a0002a0005others(4): Show | a0001c0002a0001c0005a0001c0017others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(10): Show | a0001c0002t0001g0045a0001c0002t0002g0008a0001c0002t0005g0077others(10): Show | 13 | 152 | 0.0855 | -9 | c.507 others(28): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 4/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108874690 | CATCATCA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03471.hp2 HG03540.hp1 |
a0002a0005a0006 | a0002c0050a0005c0038a0006c0032 | a0002c0050t0003a0005c0038t0001a0006c0032t0001 | a0002c0050t0003g0093a0005c0038t0001g0044a0006c0032t0001g0030 | 3 | 152 | 0.0197 | -9 | c.142 others(28): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108874693 | CATCATTA others(2): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01071.hp1 HG03490.hp1 |
a0001a0003a0025 | a0001c0016a0003c0019a0025c0043 | a0001c0016t0001a0003c0019t0002a0025c0043t0005 | a0001c0016t0001g0061a0003c0019t0002g0099a0025c0043t0005g0078 | 3 | 152 | 0.0197 | -9 | c.142 others(28): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108874696 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03130.hp2 |
a0002a0021 | a0002c0001a0021c0035 | a0002c0001t0003a0021c0035t0001 | a0002c0001t0003g0046a0021c0035t0001g0146 | 2 | 152 | 0.0132 | -9 | c.142 others(28): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109074049 | ATTTTTTA others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(62): Show |
a0001a0002a0003others(19): Show | a0001c0002a0001c0005a0001c0007others(34): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(45): Show | a0001c0002t0001g0043a0001c0002t0002g0002a0001c0002t0002g0008others(62): Show | 65 | 152 | 0.4276 | -9 | c.333 others(30): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109083383 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01099.hp2 HG01978.hp2 others(2): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0003others(1): Show | a0001c0002t0015a0002c0001t0002a0004c0003t0001others(1): Show | a0001c0002t0015g0038a0002c0001t0002g0005a0002c0001t0002g0144others(2): Show | 5 | 152 | 0.0329 | -9 | c.333 others(30): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18A_chr17_29066122_29185398 | 29136243 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00642.hp2 others(50): Show |
a0001a0005a0008 | a0001c0003a0005c0016a0008c0021 | a0001c0003t0001a0001c0003t0004a0001c0003t0008others(8): Show | a0001c0003t0001g0009a0001c0003t0001g0041a0001c0003t0001g0045others(50): Show | 53 | 306 | 0.1732 | -9 | c.100 others(30): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 2/41 | chr17 | TogoVar | ||||||
MYO18A_chr17_29066122_29185398 | 29136245 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG02615.hp1 HG02683.hp2 others(3): Show |
a0001a0007 | a0001c0003a0007c0020 | a0001c0003t0001a0001c0003t0003a0007c0020t0003 | a0001c0003t0001g0118a0001c0003t0001g0119a0001c0003t0001g0145others(3): Show | 6 | 306 | 0.0196 | -9 | c.100 others(30): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 2/41 | chr17 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25740406 | CATGTATA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(9): Show |
a0004a0005a0006others(8): Show | a0004c0041a0005c0009a0006c0017others(9): Show | a0004c0041t0001a0005c0009t0001a0006c0017t0001others(9): Show | a0004c0041t0001g0064a0005c0009t0001g0084a0006c0017t0001g0043others(9): Show | 12 | 228 | 0.0526 | -9 | c.-19 others(20): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 1781 | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25748475 | GTGACCTC others(2): Show |
G | intron_variant | MODIFIER | HG03041.hp1 HG03486.hp1 HG04115.hp2 |
a0001a0006a0011 | a0001c0001a0006c0017a0011c0122 | a0001c0001t0001a0006c0017t0001a0011c0122t0001 | a0001c0001t0001g0048a0006c0017t0001g0043a0011c0122t0001g0024 | 3 | 228 | 0.0132 | -9 | c.-11 others(28): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25789099 | TTCCTCCT others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 |
a0006a0008 | a0006c0027a0008c0092 | a0006c0027t0002a0008c0092t0001 | a0006c0027t0002g0079a0008c0092t0001g0078 | 2 | 228 | 0.0088 | -9 | c.237 others(28): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 11/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25836964 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01993.hp2 HG02004.hp2 others(14): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0002c0002others(11): Show | a0001c0001t0004a0001c0006t0001a0002c0002t0001others(11): Show | a0001c0001t0004g0170a0001c0006t0001g0036a0001c0006t0001g0182others(14): Show | 17 | 228 | 0.0746 | -9 | c.320 others(28): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 17/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25857478 | ATCTCAAG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00609.hp2 others(81): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0020a0001c0067others(50): Show | a0001c0001t0001a0001c0001t0004a0001c0020t0001others(52): Show | a0001c0001t0001g0041a0001c0001t0001g0048a0001c0001t0001g0061others(81): Show | 84 | 228 | 0.3684 | -9 | c.388 others(28): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 21/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25869472 | AAGAAGGA others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01192.hp2 others(9): Show |
a0003a0006a0008others(7): Show | a0003c0137a0006c0027a0008c0092others(7): Show | a0003c0137t0001a0006c0027t0002a0008c0092t0001others(7): Show | a0003c0137t0001g0026a0006c0027t0002g0079a0008c0092t0001g0078others(9): Show | 12 | 228 | 0.0526 | -9 | c.395 others(28): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 22/43 | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25932413 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02897.hp1 others(3): Show |
a0008a0032a0063others(2): Show | a0008c0016a0032c0032a0063c0055others(2): Show | a0008c0016t0001a0032c0032t0002a0063c0055t0002others(2): Show | a0008c0016t0001g0066a0032c0032t0002g0007a0032c0032t0002g0008others(3): Show | 6 | 228 | 0.0263 | -9 | c.551 others(30): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25989626 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01192.hp1 others(17): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0020others(14): Show | a0001c0001t0001a0001c0005t0001a0001c0020t0001others(14): Show | a0001c0001t0001g0219a0001c0005t0001g0181a0001c0020t0001g0183others(17): Show | 20 | 228 | 0.0877 | -9 | c.615 others(28): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO19_chr17_36490636_36539868 | 36518489 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp1 HG02004.hp1 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0047a0001c0001t0002g0156a0002c0002t0001g0331others(10): Show | 13 | 373 | 0.0349 | -9 | c.415 others(26): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | ||||||
MYO1B_chr2_191240404_191430386 | 191313192 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00642.hp1 others(46): Show |
a0001a0005 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(7): Show | a0001c0002t0002g0033a0001c0002t0002g0034a0001c0002t0002g0035others(46): Show | 49 | 170 | 0.2882 | -9 | c.252 others(28): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO1B_chr2_191240404_191430386 | 191354256 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00642.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0002g0076a0001c0001t0002g0077a0001c0001t0002g0078others(32): Show | 35 | 170 | 0.2059 | -9 | c.562 others(26): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO1D_chr17_32487522_32882124 | 32514239 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG02965.hp2 others(8): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0120a0001c0001t0001g0123others(8): Show | 11 | 244 | 0.0451 | -9 | c.286 others(30): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32726449 | GTCATGCT others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp2 others(14): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0118a0001c0001t0001g0120a0001c0001t0001g0123others(14): Show | 17 | 244 | 0.0697 | -9 | c.174 others(28): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 14/21 | chr17 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59151036 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG03471.hp1 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0011 | a0001c0003t0006g0142a0001c0003t0011g0019 | 2 | 226 | 0.0089 | -9 | c.308 others(28): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 26/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59203637 | GTGCTGTG others(2): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0017 | a0001c0001t0001g0033a0001c0002t0017g0006 | 2 | 226 | 0.0089 | -9 | c.161 others(28): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 15/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59209813 | ACCTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0045a0001c0003t0013a0001c0003t0050others(3): Show | a0001c0001t0045g0154a0001c0003t0013g0210a0001c0003t0050g0136others(3): Show | 6 | 226 | 0.0266 | -9 | c.136 others(26): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 13/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59213136 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00609.hp1 others(41): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0048a0001c0001t0001g0069a0001c0001t0001g0187others(41): Show | 44 | 226 | 0.1947 | -9 | c.127 others(28): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 12/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59308222 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG02056.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0015 | a0001c0002t0005a0001c0003t0002a0001c0015t0028 | a0001c0002t0005g0115a0001c0003t0002g0063a0001c0003t0002g0104others(2): Show | 5 | 226 | 0.0221 | -9 | c.4-3 others(24): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8532900 | AAATACAC others(2): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG01952.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0037a0001c0001t0001g0131a0001c0001t0001g0159others(24): Show | 27 | 342 | 0.0790 | -9 | c.204 others(28): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 19/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543948 | CTGGTGGT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 NA18942.hp1 NA18983.hp2 |
a0001 | a0001c0001a0001c0009a0001c0015 | a0001c0001t0001a0001c0009t0001a0001c0015t0001 | a0001c0001t0001g0111a0001c0009t0001g0106a0001c0015t0001g0178 | 3 | 342 | 0.0088 | -9 | c.152 others(26): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109406276 | CTGGGCCT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0003a0001c0004a0001c0016others(1): Show | a0001c0003t0001a0001c0003t0006a0001c0004t0002others(3): Show | a0001c0003t0001g0001a0001c0003t0001g0066a0001c0003t0006g0219others(4): Show | 8 | 312 | 0.0256 | -9 | c.963 others(24): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 8/31 | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109406466 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004a0001c0016others(1): Show | a0001c0003t0001a0001c0004t0002a0001c0016t0002others(1): Show | a0001c0003t0001g0310a0001c0004t0002g0211a0001c0016t0002g0071others(1): Show | 4 | 312 | 0.0128 | -9 | c.964 others(24): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 8/31 | chr12 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26072039 | GACCCTCT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(96): Show |
a0001a0004a0006others(7): Show | a0001c0001a0001c0025a0001c0038others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0107a0001c0001t0001g0114others(96): Show | 99 | 280 | 0.3536 | -9 | c.135 others(28): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26126806 | CATATACT others(2): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02965.hp2 others(1): Show |
a0007 | a0007c0007 | a0007c0007t0008 | a0007c0007t0008g0006a0007c0007t0008g0007a0007c0007t0008g0008others(1): Show | 4 | 280 | 0.0143 | -9 | c.211 others(28): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |