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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DSCAML1_chr11_117422772_117802216 | 117520793 | G | GGTGCATG others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01109.hp2 others(3): Show |
a0002 | a0002c0001a0002c0002a0002c0004others(1): Show | a0002c0001t0002a0002c0002t0001a0002c0004t0001others(2): Show | a0002c0001t0002g0076 a0002c0002t0001g0162 a0002c0004t0001g0037 others(3): Show |
6 | 194 | 0.0309 | 17 | c.121 others(34): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 6/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117539606 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01123.hp1 HG01993.hp2 others(4): Show |
a0002 | a0002c0001a0002c0002a0002c0006others(1): Show | a0002c0001t0001a0002c0001t0002a0002c0002t0001others(2): Show | a0002c0001t0001g0072 a0002c0001t0001g0083 a0002c0001t0002g0115 others(4): Show |
7 | 81 | 0.0864 | 17 | c.512 others(34): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117583019 | T | TTATTATT others(10): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0034 | a0002c0034t0002 | a0002c0034t0002g0171 | 1 | 194 | 0.0052 | 17 | c.512 others(36): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117599136 | C | CAGAAATC others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(120): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0007a0001c0008others(46): Show | a0001c0005t0001a0001c0005t0002a0001c0007t0001others(62): Show | a0001c0005t0001g0046 a0001c0005t0001g0087 a0001c0005t0001g0093 others(120): Show |
123 | 194 | 0.6340 | 17 | c.512 others(36): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117672102 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01891.hp2 HG02630.hp1 others(2): Show |
a0001a0002 | a0001c0013a0001c0045a0001c0054others(1): Show | a0001c0013t0002a0001c0045t0004a0001c0054t0002others(2): Show | a0001c0013t0002g0177 a0001c0045t0004g0154 a0001c0054t0002g0173 others(2): Show |
5 | 36 | 0.1389 | 17 | c.511 others(38): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117672102 | G | GGAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0161 | 1 | 32 | 0.0313 | 17 | c.511 others(38): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117687426 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18953.hp2 NA19240.hp1 |
a0001a0002 | a0001c0028a0002c0004a0002c0019 | a0001c0028t0001a0002c0004t0002a0002c0019t0002 | a0001c0028t0001g0067 a0002c0004t0002g0005 a0002c0019t0002g0148 |
3 | 17 | 0.1765 | 17 | c.511 others(36): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSE_chr6_116365947_116449861 | 116421463 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02809.hp1 HG03098.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0057a0005c0006t0015 | a0001c0001t0057g0268 a0005c0006t0015g0072 a0005c0006t0015g0247 others(1): Show |
4 | 243 | 0.0165 | 17 | c.417 others(34): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DSE_chr6_116365947_116449861 | 116421464 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03516.hp2 |
a0004 | a0004c0005 | a0004c0005t0012 | a0004c0005t0012g0028 a0004c0005t0012g0319 |
3 | 317 | 0.0095 | 17 | c.417 others(34): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
DSE_chr6_116365947_116449861 | 116446393 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG03654.hp1 NA18939.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0043a0002c0002t0005 | a0001c0001t0043g0250 a0002c0002t0005g0008 a0002c0002t0005g0029 others(9): Show |
12 | 128 | 0.0938 | 17 | c.*90 others(28): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 1533 | chr6 | TogoVar | |||||||
DSP_chr6_7536671_7591714 | 7554082 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18954.hp1 |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0001a0003c0005t0002 | a0002c0003t0001g0292 a0003c0005t0002g0067 |
2 | 70 | 0.0286 | 17 | c.171 others(34): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/23 | chr6 | TogoVar | |||||||
DSP_chr6_7536671_7591714 | 7554126 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02615.hp2 HG03491.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(4): Show | a0001c0001t0001g0186 a0001c0004t0001g0285 a0001c0007t0001g0263 others(4): Show |
7 | 383 | 0.0183 | 17 | c.171 others(34): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/23 | chr6 | TogoVar | |||||||
DSTN_chr20_17565075_17614919 | 17583735 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0015others(1): Show | a0001c0001t0004g0269 a0001c0001t0011g0229 a0001c0001t0015g0082 others(1): Show |
4 | 13 | 0.3077 | 17 | c.3+1 others(32): Show |
DSTN | ENSG00000125868.16 | transcript | ENST00000246069.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56695126 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19043.hp1 |
a0002a0045 | a0002c0002a0045c0013 | a0002c0002t0001a0045c0013t0001 | a0002c0002t0001g0068 a0045c0013t0001g0076 |
2 | 47 | 0.0426 | 17 | c.104 others(36): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 9/103 | chr6 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18649326 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 88 | 0.0114 | 17 | c.477 others(36): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18753607 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0029 | a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 others(4): Show |
7 | 88 | 0.0795 | 17 | c.*19 others(34): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTL_chr1_212030748_212110013 | 212051442 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0117 |
3 | 27 | 0.1111 | 17 | c.460 others(34): Show |
DTL | ENSG00000143476.18 | transcript | ENST00000366991.5 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DTNBP1_chr6_15517807_15668028 | 15553594 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02300.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0036 a0001c0001t0001g0101 a0001c0001t0001g0106 others(5): Show |
8 | 32 | 0.2500 | 17 | c.512 others(36): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25526395 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 55 | 0.0182 | 17 | c.100 others(36): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25526395 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02523.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0137 |
2 | 56 | 0.0357 | 17 | c.100 others(36): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76460518 | A | ATTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0194 | 1 | 121 | 0.0083 | 17 | c.-15 others(28): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 1190 | chr7 | TogoVar | |||||||
DTX4_chr11_59167132_59213588 | 59167585 | T | TATTGTAT others(10): Show |
upstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 388 | 0.0026 | 17 | c.-50 others(28): Show |
DTX4 | ENSG00000110042.8 | transcript | ENST00000227451.4 | protein_coding | 4546 | chr11 | TogoVar | |||||||
DTX4_chr11_59167132_59213588 | 59174501 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0058 | 1 | 165 | 0.0061 | 17 | c.211 others(34): Show |
DTX4 | ENSG00000110042.8 | transcript | ENST00000227451.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DUS1L_chr17_82052506_82070804 | 82070263 | C | CTTTCTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 2 | 234 | 0.0085 | 17 | c.-46 others(28): Show |
DUS1L | ENSG00000169718.18 | transcript | ENST00000306796.10 | protein_coding | 4460 | chr17 | TogoVar | |||||||
DUSP11_chr2_73757213_73785103 | 73783643 | G | GCGCCTGT others(10): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0106 others(2): Show |
5 | 384 | 0.0130 | 17 | c.-36 others(28): Show |
DUSP11 | ENSG00000144048.11 | transcript | ENST00000272444.8 | protein_coding | 3541 | chr2 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37485510 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0070 | 1 | 23 | 0.0435 | 17 | c.-46 others(28): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 4380 | chr17 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37498314 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 35 | 0.0286 | 17 | c.-18 others(36): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DUSP14_chr17_37484891_37518498 | 37511585 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0262 | 1 | 48 | 0.0208 | 17 | c.-92 others(32): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DUSP14_chr17_37484891_37518498 | 37511937 | A | AGTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0013 | a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0031 others(14): Show |
19 | 324 | 0.0586 | 17 | c.-92 others(32): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
DUSP7_chr3_52043919_52061571 | 52046238 | G | GAAAGCTG others(10): Show |
downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 382 | 0.0026 | 17 | c.*45 others(28): Show |
DUSP7 | ENSG00000164086.10 | transcript | ENST00000495880.2 | protein_coding | 2680 | chr3 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57161324 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG01071.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 others(21): Show |
28 | 96 | 0.2917 | 17 | c.26- others(30): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57165322 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 337 | 0.0030 | 17 | c.25+ others(32): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57165324 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 197 | 0.0051 | 17 | c.25+ others(32): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57165324 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02165.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0002g0301 |
3 | 199 | 0.0151 | 17 | c.25+ others(32): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172071 | G | GGGGGCGC others(10): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 HG02129.hp1 HG02155.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031 a0001c0001t0001g0122 a0001c0001t0001g0213 others(7): Show |
10 | 348 | 0.0287 | 17 | c.-46 others(28): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4587 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172071 | G | GGGGGCGT others(10): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0336 | 1 | 339 | 0.0029 | 17 | c.-46 others(28): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4587 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172095 | C | CGCGAGGG others(10): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(24): Show |
28 | 398 | 0.0704 | 17 | c.-46 others(28): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4611 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172112 | C | CGCGAGGG others(10): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG01106.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0142 others(5): Show |
8 | 355 | 0.0225 | 17 | c.-46 others(28): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4628 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172129 | C | CGCGAGGG others(10): Show |
upstream_gene_variant | MODIFIER | NA19000.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0162 |
2 | 354 | 0.0056 | 17 | c.-46 others(28): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4645 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172140 | G | GGGGCGCG others(10): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 443 | 0.0023 | 17 | c.-46 others(28): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4656 | chr19 | TogoVar | |||||||
DVL2_chr17_7220342_7239517 | 7233087 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 176 | 0.0057 | 17 | c.194 others(32): Show |
DVL2 | ENSG00000004975.12 | transcript | ENST00000005340.10 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
DYDC1_chr10_80331105_80361755 | 80346444 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0110 a0001c0001t0001g0192 others(1): Show |
7 | 128 | 0.0547 | 17 | c.250 others(34): Show |
DYDC1 | ENSG00000170788.14 | transcript | ENST00000372202.6 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49080150 | C | CGGGGGGG others(10): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02300.hp1 NA18951.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0040 a0001c0001t0002g0163 a0001c0001t0002g0171 others(2): Show |
5 | 47 | 0.1064 | 17 | c.202 others(38): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49112113 | G | GCCTCCTC others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(148): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0177 a0001c0001t0001g0217 a0001c0001t0001g0221 others(148): Show |
151 | 283 | 0.5336 | 17 | c.191 others(36): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 16/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49206003 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 224 | 0.0045 | 17 | c.162 others(36): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49252216 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0019 | a0001c0001t0011g0244 a0001c0001t0019g0166 |
2 | 10 | 0.2000 | 17 | c.146 others(36): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 13/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49313462 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 8 | 0.1250 | 17 | c.763 others(36): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49317646 | C | CTCCTCTC others(10): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0277 | 1 | 187 | 0.0053 | 17 | c.763 others(36): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440824 | A | AATATATG others(10): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0264 | 1 | 273 | 0.0037 | 17 | c.-53 others(36): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440967 | T | TTTATATA others(10): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0098 | 1 | 264 | 0.0038 | 17 | c.-53 others(36): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar |