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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUSK_chr9_110663791_110811558 | 110689674 | T | TATAATAT others(20): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0180 | 1 | 49 | 0.0204 | 27 | c.358 others(44): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110689674 | T | TATAATAT others(20): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01175.hp2 others(6): Show |
a0001a0002a0006 | a0001c0002a0002c0012a0006c0009 | a0001c0002t0002a0001c0002t0003a0002c0012t0018others(1): Show | a0001c0002t0002g0104 a0001c0002t0003g0101 a0001c0002t0003g0102 others(6): Show |
9 | 57 | 0.1579 | 27 | c.358 others(44): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701652 | A | ATATTTTA others(20): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0139 | 1 | 260 | 0.0038 | 27 | c.628 others(44): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0360 | 1 | 5 | 0.2000 | 27 | c.274 others(44): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3325847 | A | AATAATTT others(20): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0138 | 1 | 170 | 0.0059 | 27 | c.710 others(42): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3329319 | A | AGAAGGAA others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(107): Show |
a0001a0002a0006others(10): Show | a0001c0001a0001c0037a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 others(103): Show |
110 | 282 | 0.3901 | 27 | c.709 others(42): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3340967 | T | TATGTATA others(20): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0024 | a0024c0031 | a0024c0031t0006 | a0024c0031t0006g0224 | 1 | 282 | 0.0035 | 27 | c.188 others(44): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3341431 | T | TATATATT others(20): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0150 | 1 | 282 | 0.0035 | 27 | c.188 others(44): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591830 | T | TTCTTCTT others(20): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0354 | 1 | 358 | 0.0028 | 27 | c.-32 others(38): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3140 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(20): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG02027.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0010 | a0002c0002t0002g0269 a0002c0002t0010g0215 |
2 | 117 | 0.0171 | 27 | c.-32 others(38): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(20): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 NA19079.hp2 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0021t0005 | a0001c0001t0001g0075 a0001c0021t0005g0257 |
2 | 117 | 0.0171 | 27 | c.-32 others(38): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591846 | T | TCTCCTTC others(20): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG03669.hp2 HG03834.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0187 a0001c0001t0001g0297 a0002c0002t0001g0225 |
3 | 317 | 0.0095 | 27 | c.-32 others(38): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3124 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101659945 | T | TTTTCTTG others(20): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 358 | 0.0028 | 27 | c.192 others(44): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101674862 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02723.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0169 a0001c0004t0005g0227 a0001c0004t0005g0233 |
3 | 90 | 0.0333 | 27 | c.281 others(44): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYBPC2_chr19_50427892_50471321 | 50459507 | T | TGGGGGTG others(20): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 389 | 0.0026 | 27 | c.279 others(44): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYBPC3_chr11_47326406_47357702 | 47348927 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG00140.hp2 HG04204.hp2 NA18906.hp1 |
a0001a0007 | a0001c0002a0007c0011 | a0001c0002t0001a0007c0011t0001 | a0001c0002t0001g0037 a0007c0011t0001g0211 |
3 | 364 | 0.0082 | 27 | c.655 others(42): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286789 | A | AAATATAT others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 103 | 0.0097 | 27 | c.594 others(44): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286789 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 103 | 0.0097 | 27 | c.594 others(44): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBPAP_chr17_50503439_50536501 | 50522707 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18612.hp2 NA19009.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0281 a0002c0003t0001g0284 |
2 | 372 | 0.0054 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 86 | 0.0116 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01070.hp2 HG01071.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0033a0002c0004 | a0001c0001t0001a0001c0033t0001a0002c0004t0002 | a0001c0001t0001g0165 a0001c0001t0001g0200 a0001c0001t0001g0226 others(4): Show |
7 | 92 | 0.0761 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(40): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0004a0007c0009others(1): Show | a0001c0001t0001a0002c0004t0002a0007c0009t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 others(36): Show |
43 | 128 | 0.3359 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp2 others(14): Show |
a0001a0013a0016 | a0001c0001a0013c0014a0016c0017 | a0001c0001t0001a0013c0014t0001a0016c0017t0001 | a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0146 others(14): Show |
17 | 102 | 0.1667 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 86 | 0.0116 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19068.hp1 NA20905.hp1 |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0007 | a0001c0001t0001a0002c0003t0001a0005c0007t0001 | a0001c0001t0001g0163 a0002c0003t0001g0307 a0005c0007t0001g0225 |
3 | 88 | 0.0341 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0308 | 1 | 86 | 0.0116 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBP_chr1_38857493_38878348 | 38866044 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02886.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 4 | 83 | 0.0482 | 27 | c.267 others(42): Show |
MYCBP | ENSG00000214114.9 | transcript | ENST00000397572.5 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
MYCN_chr2_15935550_15952004 | 15935589 | A | ACACATTA others(20): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 434 | 0.0023 | 27 | c.-52 others(38): Show |
MYCN | ENSG00000134323.13 | transcript | ENST00000281043.4 | protein_coding | 4960 | chr2 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15712882 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18969.hp1 |
a0001 | a0001c0010a0001c0051 | a0001c0010t0001a0001c0051t0001 | a0001c0010t0001g0235 a0001c0051t0001g0013 |
2 | 101 | 0.0198 | 27 | c.578 others(46): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 40/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15788095 | T | TTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19000.hp2 NA19055.hp2 |
a0001a0002 | a0001c0008a0002c0001 | a0001c0008t0001a0002c0001t0001 | a0001c0008t0001g0192 a0002c0001t0001g0211 |
2 | 170 | 0.0118 | 27 | c.531 others(44): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 4/40 | chr16 | TogoVar | |||||||
MYH14_chr19_50198622_50315540 | 50267623 | A | AAATAATA others(20): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02083.hp1 HG03704.hp2 others(1): Show |
a0001a0002a0030 | a0001c0007a0002c0016a0030c0052 | a0001c0007t0001a0001c0007t0003a0002c0016t0003others(1): Show | a0001c0007t0001g0294 a0001c0007t0003g0173 a0002c0016t0003g0152 others(1): Show |
4 | 98 | 0.0408 | 27 | c.282 others(44): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 23/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYH15_chr3_108375368_108515596 | 108435701 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp2 HG03209.hp2 |
a0001a0014 | a0001c0001a0014c0025 | a0001c0001t0001a0014c0025t0001 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0014c0025t0001g0090 |
3 | 301 | 0.0100 | 27 | c.322 others(46): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 25/40 | chr3 | TogoVar | |||||||
MYH1_chr17_10487307_10523542 | 10495760 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01433.hp1 HG01928.hp1 others(15): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0009 | a0001c0001t0001a0002c0002t0001a0009c0009t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0039 others(5): Show |
18 | 54 | 0.3333 | 27 | c.516 others(44): Show |
MYH1 | ENSG00000109061.10 | transcript | ENST00000226207.6 | protein_coding | 35/39 | chr17 | TogoVar | |||||||
MYH6_chr14_23376987_23413273 | 23397940 | C | CTTCTTCT others(20): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02735.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0005 a0003c0003t0001g0074 |
2 | 368 | 0.0054 | 27 | c.189 others(44): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | |||||||
MYL6B_chr12_56147587_56162982 | 56158227 | G | GTTACTAT others(20): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 360 | 0.0028 | 27 | c.*35 others(36): Show |
MYL6B | ENSG00000196465.11 | transcript | ENST00000695999.1 | protein_coding | 246 | chr12 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2725555 | C | CAAAGAAA others(20): Show |
intron_variant | MODIFIER | HG06807.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0018 | a0001c0001t0010g0323 a0001c0001t0018g0337 |
2 | 355 | 0.0056 | 27 | c.159 others(46): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATATA others(20): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01123.hp1 others(36): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0007a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(11): Show |
39 | 234 | 0.1667 | 27 | c.-28 others(38): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770651 | T | TATATCAT others(20): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02965.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0067 others(1): Show |
4 | 336 | 0.0119 | 27 | c.-28 others(38): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2744 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169771300 | T | TATAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0036 | 2 | 348 | 0.0057 | 27 | c.-21 others(38): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2095 | chr3 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16796442 | C | CGAAAGAA others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01261.hp2 |
a0003 | a0003c0007 | a0003c0007t0098a0003c0007t0099 | a0003c0007t0098g0064 a0003c0007t0099g0167 |
2 | 144 | 0.0139 | 27 | c.280 others(44): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 3/40 | chr5 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 109023213 | G | GTATATAT others(20): Show |
intron_variant | MODIFIER | HG01069.hp1 NA19011.hp2 |
a0015a0018 | a0015c0057a0018c0027 | a0015c0057t0001a0018c0027t0010 | a0015c0057t0001g0024 a0018c0027t0010g0081 |
2 | 150 | 0.0133 | 27 | c.279 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109023243 | T | TATATATT others(20): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03486.hp1 |
a0001a0002 | a0001c0045a0002c0001 | a0001c0045t0006a0002c0001t0002 | a0001c0045t0006g0051 a0002c0001t0002g0059 |
2 | 150 | 0.0133 | 27 | c.279 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109023274 | T | TATATATT others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00673.hp1 others(12): Show |
a0002a0003a0004others(5): Show | a0002c0001a0002c0009a0002c0053others(7): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(9): Show | a0002c0001t0001g0018 a0002c0001t0001g0052 a0002c0001t0002g0005 others(12): Show |
15 | 138 | 0.1087 | 27 | c.279 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109023305 | T | TATATATT others(20): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01069.hp1 others(15): Show |
a0001a0002a0003others(6): Show | a0001c0067a0002c0001a0003c0004others(8): Show | a0001c0067t0001a0002c0001t0001a0002c0001t0002others(11): Show | a0001c0067t0001g0037 a0002c0001t0001g0052 a0002c0001t0001g0106 others(15): Show |
18 | 96 | 0.1875 | 27 | c.279 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109023510 | T | TATATATT others(20): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0015 | a0015c0057 | a0015c0057t0001 | a0015c0057t0001g0024 | 1 | 149 | 0.0067 | 27 | c.279 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109023709 | A | ATACATAT others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00621.hp2 others(58): Show |
a0002a0004a0005others(9): Show | a0002c0001a0002c0009a0002c0020others(23): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(39): Show | a0002c0001t0001g0018 a0002c0001t0001g0052 a0002c0001t0001g0060 others(58): Show |
61 | 149 | 0.4094 | 27 | c.279 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109163491 | A | ACTCCCTC others(20): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03041.hp1 NA18522.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0015 a0001c0005t0001g0069 a0001c0005t0001g0098 |
3 | 150 | 0.0200 | 27 | c.516 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109176577 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0034 | 1 | 28 | 0.0357 | 27 | c.532 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25741470 | G | GGGATTAC others(20): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(62): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0005a0001c0006others(51): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(52): Show | a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0061 others(62): Show |
65 | 226 | 0.2876 | 27 | c.-93 others(36): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 717 | chr22 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25999654 | C | CCTCCTCC others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01433.hp2 HG01516.hp1 others(9): Show |
a0004a0006a0009others(6): Show | a0004c0085a0006c0027a0009c0016others(8): Show | a0004c0085t0001a0006c0027t0001a0009c0016t0001others(8): Show | a0004c0085t0001g0109 a0006c0027t0001g0096 a0009c0016t0001g0012 others(9): Show |
12 | 122 | 0.0984 | 27 | c.628 others(46): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 40/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |