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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXD3_chr9_137301896_137428162 | 137328414 | A | AAAAACAA others(7848): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 | 1 | 64 | 0.0156 | 7855 | c.199 others(7874): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328414 | A | AAAAACAA others(7848): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0019 | a0019c0033 | a0019c0033t0001 | a0019c0033t0001g0017 | 1 | 64 | 0.0156 | 7855 | c.199 others(7874): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328414 | A | AAAAACAA others(7848): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0020 | 1 | 64 | 0.0156 | 7855 | c.199 others(7874): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328414 | A | AAAAACAA others(7848): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0019 | 1 | 64 | 0.0156 | 7855 | c.199 others(7874): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328414 | A | AAAAACAA others(7848): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0014 | a0014c0025 | a0014c0025t0001 | a0014c0025t0001g0072 | 1 | 64 | 0.0156 | 7855 | c.199 others(7874): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328414 | A | AAAAACAA others(7848): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 64 | 0.0156 | 7855 | c.199 others(7874): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328414 | A | AAAAACAA others(7848): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 64 | 0.0156 | 7855 | c.199 others(7874): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328414 | A | AAAAACAA others(7848): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0027 | 1 | 64 | 0.0156 | 7855 | c.199 others(7874): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328414 | A | AAAAACAA others(7848): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0037 | 1 | 64 | 0.0156 | 7855 | c.199 others(7874): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
GTPBP3_chr19_17332553_17347731 | 17335813 | C | TGCTTGTT others(7848): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 205 | 0.0049 | 7855 | c.-17 others(7865): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 1740 | chr19 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364461 | C | CCACCCAC others(7849): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 256 | 0.0039 | 7856 | c.129 others(7873): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47509949 | T | TGTGTGTG others(7855): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0030 | 1 | 330 | 0.0030 | 7862 | c.-37 others(7879): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PPP1R12A_chr12_79768568_79940097 | 79768863 | T | TTGAGTAG others(7862): Show |
downstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 284 | 0.0035 | 7869 | c.*70 others(7880): Show |
PPP1R12A | ENSG00000058272.19 | transcript | ENST00000450142.7 | protein_coding | 4704 | chr12 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32682037 | G | GAAGTGAG others(7862): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0047 | 1 | 159 | 0.0063 | 7869 | c.712 others(7888): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
PPP1R12A_chr12_79768568_79940097 | 79768863 | T | TTGAGTAG others(7867): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01099.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0204 others(14): Show |
17 | 300 | 0.0567 | 7874 | c.*70 others(7885): Show |
PPP1R12A | ENSG00000058272.19 | transcript | ENST00000450142.7 | protein_coding | 4704 | chr12 | TogoVar | |||||||
PPP1R12A_chr12_79768568_79940097 | 79768863 | T | TTGAGTAG others(7867): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01943.hp2 HG02273.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 a0001c0001t0001g0219 a0001c0001t0001g0231 others(1): Show |
4 | 287 | 0.0139 | 7874 | c.*70 others(7885): Show |
PPP1R12A | ENSG00000058272.19 | transcript | ENST00000450142.7 | protein_coding | 4704 | chr12 | TogoVar | |||||||
PPP1R12A_chr12_79768568_79940097 | 79768863 | T | TTGAGTAG others(7867): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 284 | 0.0035 | 7874 | c.*70 others(7885): Show |
PPP1R12A | ENSG00000058272.19 | transcript | ENST00000450142.7 | protein_coding | 4704 | chr12 | TogoVar | |||||||
PPP1R12A_chr12_79768568_79940097 | 79768863 | T | TTGAGTAG others(7868): Show |
downstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 284 | 0.0035 | 7875 | c.*70 others(7886): Show |
PPP1R12A | ENSG00000058272.19 | transcript | ENST00000450142.7 | protein_coding | 4704 | chr12 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CGGGGGGG others(7869): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 271 | 0.0037 | 7876 | c.157 others(7893): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
PPP1R12A_chr12_79768568_79940097 | 79768863 | T | TTGAGTAG others(7869): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 284 | 0.0035 | 7876 | c.*70 others(7887): Show |
PPP1R12A | ENSG00000058272.19 | transcript | ENST00000450142.7 | protein_coding | 4704 | chr12 | TogoVar | |||||||
GTPBP3_chr19_17332553_17347731 | 17335813 | C | TGCTTGTT others(7870): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 205 | 0.0049 | 7877 | c.-17 others(7887): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 1740 | chr19 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948419 | A | ATGGTGGT others(7876): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0063 | a0001c0063t0001 | a0001c0063t0001g0092 | 1 | 3 | 0.3333 | 7883 | c.47- others(7900): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399971 | T | TCTTAGGA others(7876): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0214 | 1 | 62 | 0.0161 | 7883 | c.269 others(7902): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399971 | T | TCTTAGGA others(7876): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0220 | 1 | 62 | 0.0161 | 7883 | c.269 others(7902): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399971 | T | TCTTAGGA others(7876): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0216 | 1 | 62 | 0.0161 | 7883 | c.269 others(7902): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948184 | A | ATGGTGGT others(7883): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0017 | a0002c0017t0005 | a0002c0017t0005g0100 | 1 | 48 | 0.0208 | 7890 | c.47- others(7907): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(7886): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0214 | 1 | 2 | 0.5000 | 7893 | c.126 others(7910): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328303 | A | TCCCATAT others(7887): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0027 | a0027c0017 | a0027c0017t0001 | a0027c0017t0001g0007 | 1 | 43 | 0.0233 | 7894 | c.199 others(7913): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(7905): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 62 | 0.0161 | 7912 | c.286 others(7929): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328414 | A | AAAAACAA others(7912): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 64 | 0.0156 | 7919 | c.199 others(7938): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(7913): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0006 | a0006c0023 | a0006c0023t0001 | a0006c0023t0001g0339 | 1 | 241 | 0.0041 | 7920 | c.127 others(7937): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344764 | T | TGTGTGTG others(7915): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0013 | 1 | 225 | 0.0044 | 7922 | c.62+ others(7935): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 315147 | G | GACCTGTA others(7920): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0043 a0001c0001t0003g0101 |
2 | 85 | 0.0235 | 7927 | c.351 others(7944): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(7921): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0213 | 1 | 215 | 0.0047 | 7928 | c.129 others(7945): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 315206 | T | TTGACCTG others(7921): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 73 | 0.0137 | 7928 | c.351 others(7945): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 315206 | T | TTGACCTG others(7921): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0118 | 1 | 73 | 0.0137 | 7928 | c.351 others(7945): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82128233 | T | TCTATCCA others(7931): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 NA20752.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0013 | a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0013g0124 |
3 | 224 | 0.0134 | 7938 | c.217 others(7957): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82125925 | T | TATTTGTT others(7933): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0129 | 1 | 223 | 0.0045 | 7940 | c.217 others(7959): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328402 | C | AATATGAT others(7933): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0002 | 1 | 73 | 0.0137 | 7940 | c.199 others(7959): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82125925 | T | TATTTGTT others(7936): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0004 | a0004c0004 | a0004c0004t0013 | a0004c0004t0013g0197 | 1 | 223 | 0.0045 | 7943 | c.217 others(7962): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7941): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 a0001c0001t0002g0191 |
2 | 154 | 0.0130 | 7948 | c.179 others(7967): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7941): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 153 | 0.0065 | 7948 | c.179 others(7967): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7941): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 153 | 0.0065 | 7948 | c.179 others(7967): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7941): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 153 | 0.0065 | 7948 | c.179 others(7967): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358444 | C | CGTGTGAG others(7946): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0117 |
2 | 126 | 0.0159 | 7953 | c.290 others(7970): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(7949): Show |
conservative_inframe_insertion | MODERATE | NA18906.hp1 | a0136 | a0136c0222 | a0136c0222t0004 | a0136c0222t0004g0113 | 1 | 412 | 0.0024 | 7956 | c.110 others(7967): Show |
p.Thr others(7971): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar | |||
FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(7963): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0282 | 1 | 172 | 0.0058 | 7970 | c.157 others(7987): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948419 | A | ATGGTGGT others(7971): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0010 | 1 | 3 | 0.3333 | 7978 | c.47- others(7995): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(7972): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 241 | 0.0041 | 7979 | c.127 others(7996): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7979): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 153 | 0.0065 | 7986 | c.179 others(8005): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |