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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYLK3_chr16_46697282_46753344 | 46726663 | AAAAGAAA others(11): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01175.hp2 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0202 others(6): Show |
9 | 218 | 0.0413 | -18 | c.191 others(35): Show |
MYLK3 | ENSG00000140795.13 | transcript | ENST00000394809.9 | protein_coding | 8/12 | chr16 | TogoVar | |||||||
MYLK3_chr16_46697282_46753344 | 46742447 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 a0001c0001t0003g0055 |
2 | 218 | 0.0092 | -18 | c.478 others(35): Show |
MYLK3 | ENSG00000140795.13 | transcript | ENST00000394809.9 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694608 | ATTGTAGT others(11): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01106.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0146 others(16): Show |
19 | 384 | 0.0495 | -18 | c.160 others(35): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607891 | TTATATAT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG02886.hp2 others(2): Show |
a0001a0004a0010others(2): Show | a0001c0024a0004c0012a0010c0074others(2): Show | a0001c0024t0006a0004c0012t0014a0010c0074t0014others(2): Show | a0001c0024t0006g0099 a0004c0012t0014g0156 a0010c0074t0014g0144 others(2): Show |
5 | 156 | 0.0321 | -18 | c.*61 others(29): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2157 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607925 | ATATATAT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02027.hp2 HG02080.hp2 others(3): Show |
a0001a0002a0025 | a0001c0001a0002c0002a0025c0084 | a0001c0001t0002a0001c0001t0004a0002c0002t0004others(2): Show | a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0004g0137 others(3): Show |
6 | 156 | 0.0385 | -18 | c.*61 others(29): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2123 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607927 | ATATATAT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0069 | a0002c0069t0015 | a0002c0069t0015g0130 | 1 | 156 | 0.0064 | -18 | c.*61 others(29): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2121 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607929 | ATATATAT others(11): Show |
A | downstream_gene_variant | MODIFIER | NA18998.hp2 | a0018 | a0018c0034 | a0018c0034t0004 | a0018c0034t0004g0138 | 1 | 156 | 0.0064 | -18 | c.*61 others(29): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2119 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123713579 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02698.hp2 others(8): Show |
a0001a0004a0012others(2): Show | a0001c0005a0001c0025a0004c0007others(5): Show | a0001c0005t0001a0001c0005t0019a0001c0025t0021others(8): Show | a0001c0005t0001g0091 a0001c0005t0019g0018 a0001c0025t0021g0035 others(8): Show |
11 | 156 | 0.0705 | -18 | c.180 others(37): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 13/33 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123827694 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01167.hp1 others(7): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0024a0002c0066others(6): Show | a0001c0001t0008a0001c0001t0036a0001c0024t0006others(7): Show | a0001c0001t0008g0082 a0001c0001t0036g0076 a0001c0024t0006g0099 others(7): Show |
10 | 156 | 0.0641 | -18 | c.-4+ others(33): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 3/33 | chr3 | TogoVar | |||||||
MYMK_chr9_133509586_133529959 | 133523703 | GAGAGAGA others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(94): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0002 | a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0018 others(30): Show |
97 | 456 | 0.2127 | -18 | c.135 others(34): Show |
MYMK | ENSG00000187616.5 | transcript | ENST00000339996.4 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16663328 | GTTTTTTT others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0003 | a0001c0003t0065 | a0001c0003t0065g0227 | 1 | 272 | 0.0037 | -18 | c.*33 others(29): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 41/41 | 3346 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16771547 | TTTATTAT others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0088 | 1 | 272 | 0.0037 | -18 | c.931 others(35): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 9/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16821443 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00733.hp2 others(26): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0016a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0074others(25): Show | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0008g0146 others(26): Show |
29 | 272 | 0.1066 | -18 | c.121 others(35): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16895753 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0092 | 1 | 272 | 0.0037 | -18 | c.22- others(35): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO15B_chr17_75582800_75631849 | 75589192 | TGGCTGCG others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(40): Show |
a0003a0013a0066others(1): Show | a0003c0008a0003c0024a0003c0025others(29): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(29): Show | a0003c0008t0002g0045 a0003c0008t0002g0063 a0003c0008t0002g0066 others(38): Show |
43 | 384 | 0.1120 | -18 | c.115 others(27): Show |
p.Leu others(13): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 1409/9914 | 1151/9291 | 384/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
MYO16_chr13_108624611_109213005 | 108834654 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03471.hp2 |
a0005a0006 | a0005c0013a0005c0038a0006c0034 | a0005c0013t0008a0005c0038t0001a0006c0034t0001 | a0005c0013t0008g0040 a0005c0038t0001g0044 a0006c0034t0001g0009 |
3 | 152 | 0.0197 | -18 | c.109 others(37): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108972351 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01169.hp1 HG03486.hp1 others(1): Show |
a0001a0002a0007 | a0001c0017a0001c0045a0002c0001others(1): Show | a0001c0017t0020a0001c0045t0007a0002c0001t0018others(1): Show | a0001c0017t0020g0117 a0001c0045t0007g0051 a0002c0001t0018g0118 others(1): Show |
4 | 152 | 0.0263 | -18 | c.236 others(37): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109048153 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG03654.hp2 | a0012 | a0012c0021 | a0012c0021t0009 | a0012c0021t0009g0082 | 1 | 152 | 0.0066 | -18 | c.287 others(37): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 24/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109083383 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00741.hp1 others(19): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0007a0001c0016others(11): Show | a0001c0002t0002a0001c0007t0006a0001c0016t0001others(16): Show | a0001c0002t0002g0027 a0001c0007t0006g0055 a0001c0007t0006g0056 others(19): Show |
22 | 152 | 0.1447 | -18 | c.333 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109199192 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01175.hp2 others(13): Show |
a0001a0002a0011others(4): Show | a0001c0002a0001c0007a0001c0016others(10): Show | a0001c0002t0001a0001c0007t0006a0001c0016t0001others(10): Show | a0001c0002t0001g0001 a0001c0007t0006g0055 a0001c0007t0006g0056 others(13): Show |
16 | 152 | 0.1053 | -18 | c.541 others(37): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO18A_chr17_29066122_29185398 | 29130474 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01346.hp1 HG01884.hp1 others(14): Show |
a0002 | a0002c0006a0002c0008a0002c0010others(1): Show | a0002c0006t0009a0002c0006t0027a0002c0008t0003others(4): Show | a0002c0006t0009g0199 a0002c0006t0009g0200 a0002c0006t0009g0201 others(14): Show |
17 | 306 | 0.0556 | -18 | c.100 others(37): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 2/41 | chr17 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25780590 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0004 | a0004c0041 | a0004c0041t0001 | a0004c0041t0001g0064 | 1 | 228 | 0.0044 | -18 | c.221 others(35): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25787272 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01070.hp2 others(30): Show |
a0001a0003a0004others(22): Show | a0001c0020a0003c0132a0004c0085others(26): Show | a0001c0020t0001a0003c0132t0001a0004c0085t0001others(28): Show | a0001c0020t0001g0035 a0003c0132t0001g0130 a0004c0085t0001g0108 others(30): Show |
33 | 228 | 0.1447 | -18 | c.237 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 11/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25803967 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0058 | a0058c0057 | a0058c0057t0002 | a0058c0057t0002g0077 | 1 | 228 | 0.0044 | -18 | c.252 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25814294 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG02559.hp2 others(9): Show |
a0006a0007a0021others(4): Show | a0006c0027a0007c0003a0021c0029others(4): Show | a0006c0027t0002a0007c0003t0001a0007c0003t0003others(5): Show | a0006c0027t0002g0079 a0007c0003t0001g0203 a0007c0003t0001g0204 others(9): Show |
12 | 228 | 0.0526 | -18 | c.252 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25836964 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01257.hp2 |
a0001a0003 | a0001c0021a0003c0132 | a0001c0021t0001a0003c0132t0001 | a0001c0021t0001g0217 a0003c0132t0001g0130 |
2 | 228 | 0.0088 | -18 | c.320 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 17/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25863523 | GTGGGACC others(11): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01167.hp2 others(9): Show |
a0003a0004a0006others(7): Show | a0003c0137a0004c0053a0004c0090others(8): Show | a0003c0137t0001a0004c0053t0001a0004c0090t0001others(8): Show | a0003c0137t0001g0026 a0004c0053t0001g0101 a0004c0090t0001g0018 others(9): Show |
12 | 228 | 0.0526 | -18 | c.388 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 21/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25947487 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG01891.hp2 |
a0002a0015a0048 | a0002c0112a0015c0126a0048c0042 | a0002c0112t0001a0015c0126t0001a0048c0042t0002 | a0002c0112t0001g0162 a0015c0126t0001g0165 a0048c0042t0002g0068 |
3 | 228 | 0.0132 | -18 | c.563 others(35): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 35/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25977285 | CTGTATTT others(11): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02055.hp1 HG02258.hp1 others(1): Show |
a0004a0006a0009others(1): Show | a0004c0085a0006c0027a0009c0092others(1): Show | a0004c0085t0001a0006c0027t0002a0009c0092t0001others(1): Show | a0004c0085t0001g0108 a0006c0027t0002g0104 a0009c0092t0001g0078 others(1): Show |
4 | 228 | 0.0175 | -18 | c.615 others(39): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25990709 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0070 | a0070c0081 | a0070c0081t0002 | a0070c0081t0002g0016 | 1 | 228 | 0.0044 | -18 | c.615 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO19_chr17_36490636_36539868 | 36518489 | GAAAAAAA others(11): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0065 | 1 | 373 | 0.0027 | -18 | c.415 others(35): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | |||||||
MYO1B_chr2_191240404_191430386 | 191354256 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0170 | 1 | 170 | 0.0059 | -18 | c.562 others(35): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO1B_chr2_191240404_191430386 | 191397128 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0007a0001c0008a0001c0017 | a0001c0007t0001a0001c0008t0001a0001c0017t0001 | a0001c0007t0001g0004 a0001c0007t0001g0019 a0001c0007t0001g0073 others(4): Show |
7 | 170 | 0.0412 | -18 | c.229 others(35): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO1B_chr2_191240404_191430386 | 191399268 | GGGGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02040.hp1 HG02273.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0002a0001c0003t0001others(3): Show | a0001c0001t0003g0107 a0001c0001t0003g0131 a0001c0002t0002g0034 others(6): Show |
9 | 170 | 0.0529 | -18 | c.229 others(37): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32560528 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 244 | 0.0041 | -18 | c.286 others(39): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32632570 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01123.hp1 others(7): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 others(7): Show |
10 | 244 | 0.0410 | -18 | c.270 others(37): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 20/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32632572 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02135.hp2 HG04115.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0013 | a0001c0001t0002g0022 a0001c0001t0008g0204 a0001c0001t0008g0210 others(1): Show |
4 | 244 | 0.0164 | -18 | c.270 others(37): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 20/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32639361 | TTTTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 244 | 0.0041 | -18 | c.259 others(35): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 19/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32673090 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA18998.hp2 | a0010 | a0010c0005 | a0010c0005t0001 | a0010c0005t0001g0058 | 1 | 244 | 0.0041 | -18 | c.212 others(39): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 16/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32677580 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02818.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0003g0038 others(8): Show |
11 | 244 | 0.0451 | -18 | c.212 others(39): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 16/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32754823 | CATATTCC others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02145.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0003g0024 others(8): Show |
11 | 244 | 0.0451 | -18 | c.146 others(35): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59133483 | AGAAAGGG others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(83): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0002g0092 a0001c0001t0002g0174 a0001c0001t0002g0179 others(83): Show |
86 | 226 | 0.3805 | -18 | c.*38 others(29): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 28/28 | 3879 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59151010 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03453.hp2 NA18522.hp2 |
a0001 | a0001c0004a0001c0005a0001c0012 | a0001c0004t0053a0001c0005t0029a0001c0012t0058 | a0001c0004t0053g0026 a0001c0005t0029g0002 a0001c0012t0058g0226 |
3 | 226 | 0.0133 | -18 | c.308 others(37): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 26/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59191332 | CAGAGAGA others(11): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG03453.hp1 NA18522.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0053a0001c0005t0024a0001c0005t0029 | a0001c0004t0053g0026 a0001c0005t0024g0117 a0001c0005t0029g0002 |
3 | 226 | 0.0133 | -18 | c.180 others(37): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 17/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59220827 | ATCCTCGA others(11): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0163 | 1 | 226 | 0.0044 | -18 | c.910 others(35): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 9/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59266607 | TTTTATGA others(11): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0032 | a0001c0002t0002g0145 a0001c0002t0032g0011 |
2 | 226 | 0.0089 | -18 | c.148 others(35): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282905 | GGGGGGAG others(11): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG01192.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(14): Show | a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0179 others(27): Show |
30 | 226 | 0.1327 | -18 | c.4-1 others(33): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59319550 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0116 others(72): Show |
75 | 226 | 0.3319 | -18 | c.4-4 others(33): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543849 | GTGGTGGT others(11): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01069.hp2 others(21): Show |
a0001a0004a0007 | a0001c0001a0001c0009a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0142 others(21): Show |
24 | 342 | 0.0702 | -18 | c.152 others(35): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543897 | CTGGTGGT others(11): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02155.hp1 NA18944.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0097 a0001c0001t0001g0246 a0001c0001t0001g0329 others(3): Show |
6 | 342 | 0.0175 | -18 | c.152 others(35): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar |