| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(653): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0046 | 1 | 282 | 0.0036 | 660 | c.623 others(677): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ITGB1BP1_chr2_9398475_9428528 | 9406194 | T | TGTGTCAC others(653): Show |
3_prime_UTR_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0128 | a0001c0001t0128g0085 | 1 | 276 | 0.0036 | 660 | c.*63 others(669): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 639 | chr2 | TogoVar | |||||
| ITGB1BP1_chr2_9398475_9428528 | 9406362 | T | TGTGTCAC others(653): Show |
3_prime_UTR_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0136 | a0001c0001t0136g0245 | 1 | 276 | 0.0036 | 660 | c.*47 others(669): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 471 | chr2 | TogoVar | |||||
| ITGB1BP1_chr2_9398475_9428528 | 9406510 | T | TCTTCCTC others(653): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0190 | a0001c0001t0190g0027 | 1 | 276 | 0.0036 | 660 | c.*32 others(669): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 323 | chr2 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79808551 | G | GAGCTGCC others(653): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0124a0002c0002t0002g0123 | 2 | 312 | 0.0064 | 660 | c.-11 others(681): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNQ2_chr20_63395208_63477655 | 63442767 | T | TCACCACC others(653): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0211 | 1 | 330 | 0.0030 | 660 | c.691 others(675): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
| KDM4B_chr19_4964113_5158598 | 5131563 | A | AGGCAGGG others(653): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0020 | 1 | 270 | 0.0037 | 660 | c.178 others(677): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(653): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 660 | c.-46 others(671): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
| KIAA0930_chr22_45187244_45245894 | 45229317 | A | ACCCCCGC others(653): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0004 | a0001c0004t0150 | a0001c0004t0150g0055 | 1 | 398 | 0.0025 | 660 | c.64+ others(677): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| KIF1A_chr2_240708767_240825219 | 240780830 | C | CCACACAC others(653): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0025 | a0001c0025t0035 | a0001c0025t0035g0142 | 1 | 330 | 0.0030 | 660 | c.882 others(677): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | ||||||
| KIF3B_chr20_32272651_32340011 | 32322672 | T | TTATATAT others(653): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0071 | 1 | 242 | 0.0041 | 660 | c.174 others(679): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(653): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp1 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0039a0001c0001t0003g0040a0001c0001t0004g0068 | 3 | 286 | 0.0105 | 660 | c.*52 others(671): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
| KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(653): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(72): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0177a0001c0001t0002g0004a0001c0001t0002g0005others(68): Show | 75 | 286 | 0.2622 | 660 | c.*52 others(671): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
| KLHL15_chrX_23978720_24032186 | 23982661 | A | AAAAAAAA others(653): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG02056.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0079a0001c0001t0001g0137a0001c0001t0003g0168others(3): Show | 6 | 286 | 0.0210 | 660 | c.*52 others(671): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1058 | chrX | TogoVar | ||||||
| KRT82_chr12_52388931_52411335 | 52409037 | C | CCTCCTCT others(653): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0060 | 1 | 370 | 0.0027 | 660 | c.-27 others(671): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2703 | chr12 | TogoVar | ||||||
| KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(653): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 370 | 0.0027 | 660 | c.-27 others(671): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
| KRTAP21-2_chr21_30741794_30752259 | 30742422 | G | GCCAGAGC others(653): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02922.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 380 | 0.0105 | 660 | c.*45 others(671): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4371 | chr21 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(653): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0115a0002c0002t0002g0141 | 2 | 262 | 0.0076 | 660 | c.212 others(679): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(653): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0061 | 1 | 262 | 0.0038 | 660 | c.212 others(679): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(653): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0004a0002c0002t0002a0002c0002t0003others(7): Show | a0001c0001t0004g0054a0001c0001t0004g0060a0001c0001t0004g0067others(33): Show | 36 | 262 | 0.1374 | 660 | c.212 others(679): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(653): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 660 | c.-30 others(671): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(653): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 660 | c.-30 others(671): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
| LRRC14_chr8_144512992_144530172 | 144513800 | T | TGAGGAGG others(653): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0004 | 1 | 414 | 0.0024 | 660 | c.-43 others(671): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4191 | chr8 | TogoVar | ||||||
| LRRC14_chr8_144512992_144530172 | 144513800 | T | TGAGGAGG others(653): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 414 | 0.0024 | 660 | c.-43 others(671): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4191 | chr8 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364375 | A | ACCCTTAC others(653): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 290 | 0.0035 | 660 | c.129 others(679): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRRC27_chr10_132327193_132386508 | 132364447 | A | ACCCACAC others(653): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0126a0001c0001t0005g0183 | 2 | 290 | 0.0069 | 660 | c.129 others(677): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MCCC1_chr3_183010218_183104496 | 183017819 | T | TACTGGTC others(653): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(146): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(141): Show | 149 | 344 | 0.4331 | 660 | c.197 others(677): Show |
MCCC1 | ENSG00000078070.14 | transcript | ENST00000265594.9 | protein_coding | 17/18 | chr3 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(653): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0030 | a0030c0043 | a0030c0043t0003 | a0030c0043t0003g0069 | 1 | 292 | 0.0034 | 660 | c.377 others(677): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(653): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0209 | 1 | 292 | 0.0034 | 660 | c.377 others(677): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(653): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 |
a0001a0065 | a0001c0001a0065c0097 | a0001c0001t0001a0065c0097t0001 | a0001c0001t0001g0040a0001c0001t0001g0151a0065c0097t0001g0134 | 3 | 292 | 0.0103 | 660 | c.377 others(677): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(653): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG04199.hp2 |
a0002 | a0002c0002a0002c0037 | a0002c0002t0001a0002c0037t0001 | a0002c0002t0001g0112a0002c0002t0001g0113a0002c0037t0001g0140 | 3 | 292 | 0.0103 | 660 | c.377 others(677): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(653): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02300.hp2 |
a0001a0004 | a0001c0007a0004c0004 | a0001c0007t0001a0004c0004t0002 | a0001c0007t0001g0149a0004c0004t0002g0123 | 2 | 292 | 0.0069 | 660 | c.377 others(677): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(653): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 292 | 0.0034 | 660 | c.377 others(677): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
| MFSD3_chr8_144504070_144516213 | 144513800 | T | TGAGGAGG others(653): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 660 | c.*26 others(671): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2588 | chr8 | TogoVar | ||||||
| MFSD3_chr8_144504070_144516213 | 144513800 | T | TGAGGAGG others(653): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 660 | c.*26 others(671): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2588 | chr8 | TogoVar | ||||||
| MTTP_chr4_99569824_99628997 | 99588927 | A | ACATATAT others(653): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 364 | 0.0028 | 660 | c.394 others(675): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99589035 | A | ATATATAT others(653): Show |
intron_variant | MODIFIER | HG00609.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224a0001c0001t0001g0235 | 2 | 364 | 0.0055 | 660 | c.394 others(675): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195776144 | G | GTCATACC others(653): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0038 | a0038c0163 | a0038c0163t0002 | a0038c0163t0002g0005 | 1 | 249 | 0.0040 | 660 | c.129 others(681): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195777526 | C | CATACCTT others(653): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0062 | a0062c0197 | a0062c0197t0009 | a0062c0197t0009g0243 | 1 | 249 | 0.0040 | 660 | c.129 others(679): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(653): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0103 | 1 | 326 | 0.0031 | 660 | c.358 others(677): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(653): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0053a0001c0001t0016g0185a0001c0001t0016g0186 | 3 | 326 | 0.0092 | 660 | c.358 others(677): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(653): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG02735.hp2 others(5): Show |
a0001a0004a0009 | a0001c0001a0004c0007a0009c0025 | a0001c0001t0001a0001c0001t0003a0004c0007t0004others(1): Show | a0001c0001t0001g0057a0001c0001t0003g0017a0001c0001t0003g0052others(5): Show | 8 | 326 | 0.0245 | 660 | c.358 others(677): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(653): Show |
intron_variant | MODIFIER | NA18988.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054a0001c0001t0003g0058 | 2 | 326 | 0.0061 | 660 | c.358 others(677): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(653): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0118 | 1 | 326 | 0.0031 | 660 | c.358 others(677): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(653): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0029a0001c0001t0010g0041 | 2 | 326 | 0.0061 | 660 | c.358 others(677): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(653): Show |
intron_variant | MODIFIER | HG02300.hp1 HG03942.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0005c0005t0008 | a0001c0001t0002g0188a0005c0005t0008g0117 | 2 | 326 | 0.0061 | 660 | c.358 others(677): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MYL2_chr12_110905845_110925579 | 110905890 | A | AATATTAT others(653): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 368 | 0.0027 | 660 | c.*51 others(671): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4954 | chr12 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8543882 | G | GTGGTGGT others(653): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 342 | 0.0029 | 660 | c.152 others(677): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| NEDD4L_chr18_58039226_58406539 | 58209261 | T | TCCTCCTC others(653): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02083.hp2 HG03834.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0065a0001c0001t0002g0077others(2): Show | 5 | 118 | 0.0424 | 660 | c.123 others(679): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | chr18 | TogoVar | ||||||
| NLRP4_chr19_55831540_55886855 | 55850164 | A | AATTTCCG others(653): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0372 | 1 | 424 | 0.0024 | 660 | c.-65 others(677): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |