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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2156): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0177 a0001c0001t0003g0172 |
2 | 250 | 0.0080 | 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 | 249 | 0.0040 | 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 | a0006c0026 | a0006c0026t0011 | a0006c0026t0011g0011 | 1 | 51 | 0.0196 | 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 | a0003c0027a0006c0013a0011c0024 | a0003c0027t0007a0006c0013t0020a0011c0024t0102 | a0003c0027t0007g0173 a0006c0013t0020g0017 a0011c0024t0102g0006 |
3 | 53 | 0.0566 | 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 | a0068 | a0068c0060 | a0068c0060t0061 | a0068c0060t0061g0288 | 1 | 32 | 0.0313 | 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 | a0001c0001t0002g0235 | 1 | 8 | 0.1250 | 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 | 329 | 0.0243 | 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 | 223 | 0.0135 | 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 | 230 | 0.0435 | 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 | a0004c0007t0004g0108 | 1 | 4 | 0.2500 | 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 | a0001c0001t0005g0077 a0002c0015t0004g0112 a0003c0003t0004g0012 others(11): Show |
15 | 18 | 0.8333 | 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 |
a0003a0004a0006 | a0003c0003a0004c0007a0006c0021 | a0003c0003t0005a0004c0007t0004a0006c0021t0004 | a0003c0003t0005g0082 a0004c0007t0004g0076 a0006c0021t0004g0030 |
3 | 6 | 0.5000 | 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 | a0001c0002t0001g0145 | 1 | 191 | 0.0052 | 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 | a0001c0001t0001g0050 a0001c0001t0001g0051 |
2 | 16 | 0.1250 | 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 | a0012 | a0012c0022 | a0012c0022t0001 | a0012c0022t0001g0217 | 1 | 206 | 0.0049 | 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 | a0002c0002t0054a0004c0014t0055 | a0002c0002t0054g0126 a0004c0014t0055g0024 |
2 | 52 | 0.0385 | 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 |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0025 | a0001c0001t0028a0002c0002t0088a0002c0002t0116others(1): Show | a0001c0001t0028g0100 a0002c0002t0088g0151 a0002c0002t0116g0227 others(1): Show |
4 | 54 | 0.0741 | 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 | a0001c0002t0001g0235 | 1 | 282 | 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 | a0001c0001t0001g0148 | 1 | 110 | 0.0091 | 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 | a0001c0001t0002g0214 a0001c0001t0002g0228 a0001c0001t0002g0237 others(2): Show |
5 | 12 | 0.4167 | 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 | a0001c0001t0006g0190 | 1 | 8 | 0.1250 | 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 | a0001c0001t0005g0187 a0001c0001t0005g0199 |
2 | 9 | 0.2222 | 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 | 9 | 0.2222 | 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 | 8 | 0.1250 | 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 | 207 | 0.0048 | 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 | 96 | 0.0104 | 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 | a0001c0001t0002g0085 | 1 | 221 | 0.0045 | 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 | 32 | 0.0313 | 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 | 249 | 0.0040 | 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 | a0001c0001t0002g0266 | 1 | 8 | 0.1250 | 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 | a0001c0001t0002g0005 a0001c0001t0002g0189 a0001c0001t0002g0212 others(17): Show |
21 | 28 | 0.7500 | 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 | a0001c0001t0001g0218 a0001c0001t0002g0205 a0001c0001t0002g0206 others(3): Show |
6 | 13 | 0.4615 | 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 | a0001c0001t0002g0251 a0001c0001t0002g0252 |
2 | 9 | 0.2222 | 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 | a0001c0001t0007g0052 | 1 | 188 | 0.0053 | 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 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 others(1): Show |
4 | 134 | 0.0299 | 2165 | c.143 others(2182): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2158): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0299 | 1 | 179 | 0.0056 | 2165 | c.600 others(2184): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828762 | G | GGGAGGGA others(2158): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0006 | a0006c0015 | a0006c0015t0024 | a0006c0015t0024g0087 | 1 | 85 | 0.0118 | 2165 | c.79+ others(2182): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2159): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 2 | 0.5000 | 2166 | c.-52 others(2187): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2159): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0119 | 1 | 2 | 0.5000 | 2166 | c.126 others(2183): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400975 | C | CACCACCA others(2159): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0036 | a0036c0139 | a0036c0139t0003 | a0036c0139t0003g0177 | 1 | 155 | 0.0065 | 2166 | c.323 others(2185): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2159): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0044 | 1 | 51 | 0.0196 | 2166 | c.183 others(2183): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2159): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02738.hp1 HG03704.hp2 others(2): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0006others(1): Show | a0001c0001t0004a0001c0001t0008a0003c0003t0031others(2): Show | a0001c0001t0004g0109 a0001c0001t0008g0055 a0003c0003t0031g0003 others(2): Show |
5 | 55 | 0.0909 | 2166 | c.183 others(2183): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2159): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0004 | a0004c0006 | a0004c0006t0008 | a0004c0006t0008g0031 | 1 | 51 | 0.0196 | 2166 | c.183 others(2183): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2159): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0032 | 1 | 51 | 0.0196 | 2166 | c.183 others(2183): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2159): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0011 | a0011c0023 | a0011c0023t0120 | a0011c0023t0120g0237 | 1 | 51 | 0.0196 | 2166 | c.183 others(2183): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914670 | T | TCCCTTCC others(2159): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0027 | a0004c0027t0001 | a0004c0027t0001g0127 | 1 | 292 | 0.0034 | 2166 | c.515 others(2183): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2159): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276 | 1 | 8 | 0.1250 | 2166 | c.-56 others(2185): 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(2159): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 8 | 0.1250 | 2166 | c.-56 others(2185): 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(2159): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 a0001c0001t0002g0270 |
2 | 9 | 0.2222 | 2166 | c.-56 others(2185): 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(2159): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0184 | 1 | 8 | 0.1250 | 2166 | c.-56 others(2185): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |