view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(3923): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 342 | 0.0029 | 3930 | c.366 others(3947): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3923): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0067 | a0067c0076 | a0067c0076t0001 | a0067c0076t0001g0160 | 1 | 186 | 0.0054 | 3930 | c.723 others(3947): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3923): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 186 | 0.0054 | 3930 | c.723 others(3947): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3923): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 251 | 0.0040 | 3930 | c.-45 others(3939): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3923): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 251 | 0.0040 | 3930 | c.-45 others(3939): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3923): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0202 | 1 | 251 | 0.0040 | 3930 | c.-45 others(3939): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3923): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0082 | a0082c0113 | a0082c0113t0001 | a0082c0113t0001g0223 | 1 | 282 | 0.0036 | 3930 | c.299 others(3945): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3924): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 251 | 0.0040 | 3931 | c.-45 others(3940): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3925): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0035 | a0035c0084 | a0035c0084t0001 | a0035c0084t0001g0169 | 1 | 186 | 0.0054 | 3932 | c.723 others(3949): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3925): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0058 | a0058c0122 | a0058c0122t0001 | a0058c0122t0001g0080 | 1 | 186 | 0.0054 | 3932 | c.723 others(3949): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(3925): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 290 | 0.0035 | 3932 | c.129 others(3951): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3925): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 251 | 0.0040 | 3932 | c.-45 others(3941): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3925): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 251 | 0.0040 | 3932 | c.-45 others(3941): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120111 | T | TGGAGGAG others(3926): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0009 | a0009c0016 | a0009c0016t0012 | a0009c0016t0012g0328 | 1 | 368 | 0.0027 | 3933 | c.353 others(3950): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(3926): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0321 | 1 | 376 | 0.0027 | 3933 | c.101 others(3952): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3927): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 251 | 0.0040 | 3934 | c.-45 others(3943): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950975 | A | ACACGTAC others(3927): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0005 | 1 | 350 | 0.0029 | 3934 | c.-24 others(3945): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2264 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3927): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0075 | a0075c0119 | a0075c0119t0001 | a0075c0119t0001g0141 | 1 | 282 | 0.0036 | 3934 | c.299 others(3949): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(3927): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 227 | 0.0044 | 3934 | c.*23 others(3945): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914257 | G | GGTGTGTG others(3927): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 420 | 0.0024 | 3934 | c.*35 others(3945): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2572 | chr9 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3928): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0082 | a0001c0082t0002 | a0001c0082t0002g0012 | 1 | 186 | 0.0054 | 3935 | c.723 others(3952): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311760 | A | ACTCACCT others(3928): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0074 | 1 | 344 | 0.0029 | 3935 | c.327 others(3952): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(3929): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0054 | 1 | 334 | 0.0030 | 3936 | c.147 others(3953): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC16A9_chr10_59645764_59714850 | 59658255 | T | TACAACTT others(3929): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0320 | 1 | 352 | 0.0028 | 3936 | c.437 others(3953): Show |
SLC16A9 | ENSG00000165449.12 | transcript | ENST00000395348.8 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
CCDC179_chr11_22841922_22865474 | 22856097 | A | AAAGAAAC others(3930): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 446 | 0.0022 | 3937 | c.195 others(3954): Show |
CCDC179 | ENSG00000255359.3 | transcript | ENST00000532798.3 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3930): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 251 | 0.0040 | 3937 | c.-45 others(3946): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3931): Show |
intron_variant | MODIFIER | HG03453.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0035 | a0001c0001t0034g0351a0001c0001t0035g0352 | 2 | 390 | 0.0051 | 3938 | c.859 others(3955): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2183653 | C | CAAAAAAC others(3931): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 264 | 0.0038 | 3938 | c.986 others(3957): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 10/18 | chr7 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3931): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0031 | a0002c0031t0020 | a0002c0031t0020g0124 | 1 | 282 | 0.0036 | 3938 | c.299 others(3953): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SLC16A9_chr10_59645764_59714850 | 59658255 | T | TACAACTT others(3931): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 352 | 0.0028 | 3938 | c.437 others(3955): Show |
SLC16A9 | ENSG00000165449.12 | transcript | ENST00000395348.8 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3932): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0000 | a0000c0094 | a0000c0094t0001 | a0000c0094t0001g0098 | 1 | 186 | 0.0054 | 3939 | c.723 others(3956): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
RGS6_chr14_71927429_72571530 | 72497053 | T | TCCGGGAA others(3932): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 130 | 0.0077 | 3939 | c.965 others(3956): Show |
RGS6 | ENSG00000182732.18 | transcript | ENST00000553525.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(3933): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 290 | 0.0035 | 3940 | c.129 others(3959): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3933): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 251 | 0.0040 | 3940 | c.-45 others(3949): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3933): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0114 | 1 | 214 | 0.0047 | 3940 | c.206 others(3959): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3935): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0017 | 1 | 298 | 0.0034 | 3942 | c.126 others(3959): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807607 | T | TCCCTCCC others(3935): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 314 | 0.0032 | 3942 | c.*34 others(3953): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3321 | chr2 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3935): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0147 | 1 | 186 | 0.0054 | 3942 | c.723 others(3959): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807607 | T | TCCCTCCC others(3935): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0055 | 1 | 319 | 0.0031 | 3942 | c.-16 others(3953): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1585 | chr2 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3936): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0157 | 1 | 268 | 0.0037 | 3943 | c.137 others(3960): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3936): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0158 | 1 | 268 | 0.0037 | 3943 | c.137 others(3960): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3936): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0145 | 1 | 268 | 0.0037 | 3943 | c.137 others(3960): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3936): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0252 | 1 | 282 | 0.0036 | 3943 | c.299 others(3958): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120383 | A | GATGGAAA others(3937): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02886.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0025 | a0001c0001t0004g0235a0001c0001t0004g0236a0001c0001t0004g0238others(2): Show | 5 | 368 | 0.0136 | 3944 | c.353 others(3959): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | chr22 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3939): Show |
intron_variant | MODIFIER | NA18988.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037 | a0001c0001t0001g0020a0001c0001t0037g0020 | 2 | 390 | 0.0051 | 3946 | c.859 others(3963): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3939): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0207a0001c0001t0004g0209 | 2 | 390 | 0.0051 | 3946 | c.859 others(3963): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3939): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0020others(1): Show | a0001c0001t0004g0001a0001c0001t0004g0017a0001c0001t0004g0040others(33): Show | 41 | 390 | 0.1051 | 3946 | c.859 others(3963): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586205 | G | GCCGGGGG others(3939): Show |
splice_region_variant others(1): Show |
LOW | HG02523.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0290 | 1 | 308 | 0.0033 | 3946 | c.157 others(3959): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GMEB2_chr20_63582605_63632101 | 63609684 | A | ACCCACCT others(3939): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 330 | 0.0030 | 3946 | c.132 others(3963): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3939): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0056 | a0056c0104 | a0056c0104t0001 | a0056c0104t0001g0131 | 1 | 186 | 0.0054 | 3946 | c.723 others(3963): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar |