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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CREB3L2_chr7_137869979_138007086 | 137946852 | T | TTATATAT others(417): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0102 | 1 | 288 | 0.0035 | 424 | c.103 others(443): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1198279 | G | GGAAGGCA others(417): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 167 | 0.0060 | 424 | c.646 others(439): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
DAZAP1_chr19_1402586_1440684 | 1420023 | A | AGTCACGG others(417): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0056 | 1 | 374 | 0.0027 | 424 | c.304 others(441): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DAZAP1_chr19_1402586_1440684 | 1420072 | C | TGAACGTC others(417): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0026 | a0001c0001t0013g0108 a0001c0001t0026g0046 |
2 | 374 | 0.0054 | 424 | c.304 others(441): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 4/11 | chr19 | TogoVar | |||||||
DAZAP1_chr19_1402586_1440684 | 1420122 | T | TCCTGAAC others(417): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0130 | 1 | 374 | 0.0027 | 424 | c.304 others(441): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(417): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 367 | 0.0027 | 424 | c.-42 others(435): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875266 | C | CCACCCCC others(417): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0006 | 1 | 320 | 0.0031 | 424 | c.*39 others(435): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2476 | chr20 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478383 | G | GGGAGAGG others(417): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0021 | a0001c0021t0008 | a0001c0021t0008g0074 | 1 | 88 | 0.0114 | 424 | c.158 others(441): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 608577 | C | CCCCCACA others(417): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0021 | a0001c0021t0008 | a0001c0021t0008g0074 | 1 | 88 | 0.0114 | 424 | c.85+ others(441): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3741358 | A | ATCACCAT others(417): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0022 | 1 | 80 | 0.0125 | 424 | c.135 others(441): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 6/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4087067 | A | ATATATAC others(417): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0053 | 1 | 80 | 0.0125 | 424 | c.-15 others(445): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4087067 | A | ATATATAC others(417): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0069 | 1 | 80 | 0.0125 | 424 | c.-15 others(445): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619226 | T | TCCCCTCC others(417): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 250 | 0.0040 | 424 | c.-10 others(443): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619428 | C | CCCCCCCT others(417): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0154 | 1 | 250 | 0.0040 | 424 | c.-10 others(443): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89638669 | A | ACACACAC others(417): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 250 | 0.0040 | 424 | c.*44 others(433): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 237 | chr16 | TogoVar | |||||||
DPYSL2_chr8_26509031_26663175 | 26556354 | A | ATATATAT others(417): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0141 | 1 | 316 | 0.0032 | 424 | c.355 others(443): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618284 | A | AGGTGTGT others(417): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0149 | 1 | 192 | 0.0052 | 424 | c.441 others(443): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618284 | A | AGGTGTGT others(417): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0075 | a0001c0075t0001 | a0001c0075t0001g0094 | 1 | 208 | 0.0048 | 424 | c.446 others(443): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492196 | G | GGATGGAT others(417): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 a0001c0002t0001g0168 |
2 | 374 | 0.0054 | 424 | c.772 others(439): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315169 | C | CCACCACC others(417): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0092 a0001c0002t0005g0093 |
2 | 250 | 0.0080 | 424 | c.259 others(443): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ENTR1_chr9_136396922_136415614 | 136403322 | G | GGGGGGAG others(417): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 412 | 0.0024 | 424 | c.120 others(441): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158729237 | G | GGGGGGGA others(417): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0198 | 1 | 370 | 0.0027 | 424 | c.*49 others(435): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1759 | chr7 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355604 | A | AAAGGAGG others(417): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0017 | a0017c0018 | a0017c0018t0001 | a0017c0018t0001g0022 | 1 | 82 | 0.0122 | 424 | c.757 others(439): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14568337 | G | GGGAGGAG others(417): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 a0001c0001t0002g0056 a0001c0001t0002g0076 others(1): Show |
4 | 272 | 0.0147 | 424 | c.470 others(443): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1671129 | C | CCACAGCC others(417): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0105 | 1 | 350 | 0.0029 | 424 | c.-16 others(443): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1671447 | C | CCACAGCC others(417): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0076 | 1 | 350 | 0.0029 | 424 | c.-16 others(443): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128540067 | C | CATATATC others(417): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0016 | a0016c0045 | a0016c0045t0010 | a0016c0045t0010g0027 | 1 | 236 | 0.0042 | 424 | c.-24 others(435): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1823 | chr5 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806874 | T | TTCCCTCC others(417): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 314 | 0.0032 | 424 | c.*27 others(435): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2588 | chr2 | TogoVar | |||||||
GPALPP1_chr13_44984538_45035305 | 45019080 | T | TATACATA others(417): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02523.hp1 NA18942.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 a0001c0001t0003g0250 a0001c0001t0003g0251 others(6): Show |
9 | 348 | 0.0259 | 424 | c.706 others(441): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPALPP1_chr13_44984538_45035305 | 45019080 | T | TATACATA others(417): Show |
intron_variant | MODIFIER | HG00673.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 a0001c0001t0003g0252 |
2 | 348 | 0.0058 | 424 | c.706 others(441): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53074404 | T | TTATATTT others(417): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107 | 1 | 208 | 0.0048 | 424 | c.-97 others(441): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1010881 | T | TCCCTCCA others(417): Show |
intron_variant | MODIFIER | HG02300.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0049 |
2 | 370 | 0.0054 | 424 | c.134 others(441): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1010881 | T | TCCCTCCA others(417): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 370 | 0.0027 | 424 | c.134 others(441): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1010902 | C | CCCTACAC others(417): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 370 | 0.0027 | 424 | c.134 others(441): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 186170 | G | GGAGGAAC others(417): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 424 | c.*50 others(435): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4992 | chr16 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 602360 | T | TCTCTCCT others(417): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 408 | 0.0025 | 424 | c.633 others(441): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(417): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 323 | 0.0031 | 424 | c.-16 others(435): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173137 | C | CCCCTCCC others(417): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0099 | 1 | 158 | 0.0063 | 424 | c.*11 others(445): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1969684 | T | TATAAATA others(417): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 389 | 0.0026 | 424 | c.-51 others(435): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 3992 | chr8 | TogoVar | |||||||
KBTBD11_chr8_1968677_2011936 | 1969684 | T | TATAAATA others(417): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00609.hp2 others(54): Show |
a0001a0003a0011 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0130 others(51): Show |
57 | 389 | 0.1465 | 424 | c.-51 others(435): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 3992 | chr8 | TogoVar | |||||||
KBTBD11_chr8_1968677_2011936 | 1969684 | T | TGTAAATA others(417): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 389 | 0.0026 | 424 | c.-51 others(435): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 3992 | chr8 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(417): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0255 | 1 | 322 | 0.0031 | 424 | c.283 others(443): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(417): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0246 |
2 | 322 | 0.0062 | 424 | c.283 others(443): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(417): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 a0001c0001t0001g0273 |
2 | 322 | 0.0062 | 424 | c.283 others(443): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(417): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 a0001c0002t0001g0013 |
2 | 322 | 0.0062 | 424 | c.283 others(443): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(417): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02572.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0024 | a0001c0001t0021g0010 a0001c0001t0021g0012 a0001c0001t0024g0011 others(1): Show |
4 | 242 | 0.0165 | 424 | c.174 others(443): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54349509 | G | GGGAGGAC others(417): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(116): Show |
a0001a0002a0006others(6): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(15): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0015 others(43): Show |
119 | 462 | 0.2576 | 424 | c.*57 others(435): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1874 | chr19 | TogoVar | |||||||
LAIR1_chr19_54346384_54369931 | 54349509 | G | GGGAGGAC others(417): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 HG02135.hp1 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0062 | a0001c0001t0002g0001 a0001c0001t0062g0189 |
3 | 462 | 0.0065 | 424 | c.*57 others(435): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1874 | chr19 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174525 | T | TATATATC others(417): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0214 | 1 | 284 | 0.0035 | 424 | c.126 others(441): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124610410 | C | CGGGTGAG others(417): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0173 | 1 | 260 | 0.0039 | 424 | c.717 others(441): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |