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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2154): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2161 | c.-20 others(2172): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2155): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0027 | a0027c0052 | a0027c0052t0001 | a0027c0052t0001g0031 | 1 | 104 | 0.0096 | 2162 | c.354 others(2181): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2155): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 345 | 0.0029 | 2162 | c.*16 others(2173): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56367263 | C | CCTTTTTT others(2155): Show |
intron_variant | MODIFIER | HG02965.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0072a0001c0001t0009g0073 | 2 | 74 | 0.0270 | 2162 | c.657 others(2181): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2155): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 301 | 0.0033 | 2162 | c.-11 others(2173): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2155): Show |
intron_variant | MODIFIER | NA19007.hp1 NA19060.hp2 |
a0001a0012 | a0001c0001a0012c0022 | a0001c0001t0014a0012c0022t0036 | a0001c0001t0014g0086a0012c0022t0036g0004 | 2 | 238 | 0.0084 | 2162 | c.183 others(2179): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2155): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02451.hp1 others(6): Show |
a0001a0002a0006others(2): Show | a0001c0028a0002c0015a0006c0004others(4): Show | a0001c0028t0033a0002c0015t0005a0006c0004t0001others(6): Show | a0001c0028t0033g0137a0002c0015t0005g0140a0006c0004t0001g0133others(6): Show | 9 | 234 | 0.0385 | 2162 | c.816 others(2179): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2155): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 362 | 0.0028 | 2162 | c.-56 others(2181): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2155): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0240 | 1 | 362 | 0.0028 | 2162 | c.-56 others(2181): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2155): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0184 | 1 | 362 | 0.0028 | 2162 | c.-56 others(2181): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2156): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 338 | 0.0030 | 2163 | c.552 others(2180): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2156): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 316 | 0.0032 | 2163 | c.44- others(2176): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DCLK2_chr4_150073445_150262438 | 150251411 | C | CAAATCCC others(2156): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0004 | a0003c0004t0013 | a0003c0004t0013g0038 | 1 | 116 | 0.0086 | 2163 | c.207 others(2182): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | ||||||
DDR2_chr1_162627464_162792405 | 162720490 | T | TCAACTAT others(2156): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0056others(3): Show | a0001c0001t0002g0009a0001c0001t0002g0020a0001c0001t0002g0022others(38): Show | 41 | 302 | 0.1358 | 2163 | c.82+ others(2178): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DDR2_chr1_162627464_162792405 | 162720490 | T | TCAACTAT others(2156): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0150 | 1 | 302 | 0.0033 | 2163 | c.82+ others(2178): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2156): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0178a0001c0001t0003g0172 | 2 | 301 | 0.0066 | 2163 | c.-11 others(2174): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2156): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 | 1 | 301 | 0.0033 | 2163 | c.-11 others(2174): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2156): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0006 | a0006c0027 | a0006c0027t0010 | a0006c0027t0010g0014 | 1 | 238 | 0.0042 | 2163 | c.183 others(2180): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2156): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02976.hp2 NA18906.hp1 |
a0003a0006a0011 | a0003c0028a0006c0013a0011c0025 | a0003c0028t0007a0006c0013t0020a0011c0025t0103 | a0003c0028t0007g0174a0006c0013t0020g0020a0011c0025t0103g0009 | 3 | 238 | 0.0126 | 2163 | c.183 others(2180): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2156): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0082 | a0082c0060 | a0082c0060t0061 | a0082c0060t0061g0288 | 1 | 292 | 0.0034 | 2163 | c.218 others(2178): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2156): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 362 | 0.0028 | 2163 | c.-56 others(2182): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2156): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01123.hp1 HG01123.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 8 | 375 | 0.0213 | 2163 | c.*44 others(2174): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2156): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02896.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 375 | 0.0080 | 2163 | c.*44 others(2174): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2156): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01169.hp2 HG01952.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 10 | 375 | 0.0267 | 2163 | c.*44 others(2174): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(2156): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0109 | 1 | 130 | 0.0077 | 2163 | c.261 others(2182): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(2156): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0015a0003c0003others(5): Show | a0001c0001t0005a0002c0015t0004a0003c0003t0004others(7): Show | a0001c0001t0005g0073a0002c0015t0004g0112a0003c0003t0004g0016others(11): Show | 15 | 130 | 0.1154 | 2163 | c.261 others(2182): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(2156): Show |
intron_variant | MODIFIER | HG03239.hp1 NA18971.hp1 NA19058.hp1 |
a0003a0004a0007 | a0003c0003a0004c0007a0007c0021 | a0003c0003t0005a0004c0007t0004a0007c0021t0004 | a0003c0003t0005g0066a0004c0007t0004g0072a0007c0021t0004g0031 | 3 | 130 | 0.0231 | 2163 | c.261 others(2182): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARHGAP39_chr8_144524179_144690846 | 144687652 | C | CCCCGTGA others(2157): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0147 | 1 | 246 | 0.0041 | 2164 | c.-20 others(2175): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1807 | chr8 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329823 | G | GGGACTAC others(2157): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0051 | 2 | 82 | 0.0244 | 2164 | c.199 others(2183): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514222 | T | TCCTCTCT others(2157): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0011 | a0011c0022 | a0011c0022t0001 | a0011c0022t0001g0217 | 1 | 254 | 0.0039 | 2164 | c.-84 others(2181): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2157): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02738.hp2 |
a0002a0004 | a0002c0002a0004c0014 | a0002c0002t0055a0004c0014t0056 | a0002c0002t0055g0127a0004c0014t0056g0027 | 2 | 238 | 0.0084 | 2164 | c.183 others(2181): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2157): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02895.hp1 HG03098.hp2 others(1): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0026 | a0001c0001t0028a0002c0002t0089a0002c0002t0117others(1): Show | a0001c0001t0028g0101a0002c0002t0089g0152a0002c0002t0117g0227others(1): Show | 4 | 238 | 0.0168 | 2164 | c.183 others(2181): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364382 | C | CTTACACC others(2157): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0240 | 1 | 290 | 0.0035 | 2164 | c.129 others(2183): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364393 | C | CCTTACAT others(2157): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 290 | 0.0035 | 2164 | c.129 others(2183): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2157): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02886.hp1 NA18946.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196a0001c0001t0002g0210a0001c0001t0002g0219others(2): Show | 5 | 362 | 0.0138 | 2164 | c.-56 others(2183): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2157): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0172 | 1 | 362 | 0.0028 | 2164 | c.-56 others(2183): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2157): Show |
intron_variant | MODIFIER | HG00423.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0168a0001c0001t0005g0181 | 2 | 362 | 0.0055 | 2164 | c.-56 others(2183): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2157): Show |
upstream_gene_variant | MODIFIER | NA18941.hp2 NA19076.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 2 | 432 | 0.0046 | 2164 | c.-20 others(2175): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2157): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2164 | c.-20 others(2175): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2157): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 295 | 0.0034 | 2164 | c.715 others(2181): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
THSD7B_chr2_136760545_137682718 | 136899382 | T | TTTTTTTT others(2157): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0003 | a0003c0018 | a0003c0018t0001 | a0003c0018t0001g0046 | 1 | 98 | 0.0102 | 2164 | c.139 others(2183): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882384 | G | GGGGAGAA others(2158): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 288 | 0.0035 | 2165 | c.303 others(2184): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(2158): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 66 | 0.0152 | 2165 | c.56- others(2178): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2158): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 301 | 0.0033 | 2165 | c.-11 others(2176): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2158): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 362 | 0.0028 | 2165 | c.-56 others(2184): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2158): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG01167.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0171a0001c0001t0002g0194a0001c0001t0002g0197others(18): Show | 21 | 362 | 0.0580 | 2165 | c.-56 others(2184): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2158): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02602.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0200a0001c0001t0002g0187a0001c0001t0002g0188others(3): Show | 6 | 362 | 0.0166 | 2165 | c.-56 others(2184): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2158): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233a0001c0001t0002g0234 | 2 | 362 | 0.0055 | 2165 | c.-56 others(2184): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492477 | C | CCCAGAGC others(2158): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0053 | 1 | 295 | 0.0034 | 2165 | c.126 others(2184): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACATGCT others(2158): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0280a0001c0001t0001g0281a0001c0001t0001g0282others(1): Show | 4 | 338 | 0.0118 | 2165 | c.143 others(2182): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar |