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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122a0001c0001t0002g0142 | 2 | 386 | 0.0052 | 31 | c.65- others(46): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01517.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112a0001c0001t0002g0161 | 2 | 386 | 0.0052 | 31 | c.65- others(46): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 386 | 0.0026 | 31 | c.65- others(46): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 386 | 0.0026 | 31 | c.65- others(46): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JPH1_chr8_74229700_74326540 | 74296019 | G | GCACACAC others(24): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 330 | 0.0030 | 31 | c.113 others(52): Show |
JPH1 | ENSG00000104369.5 | transcript | ENST00000342232.5 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
JPT2_chr16_1673279_1707086 | 1676801 | C | CTCCTCTC others(24): Show |
upstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 386 | 0.0026 | 31 | c.-15 others(42): Show |
JPT2 | ENSG00000206053.13 | transcript | ENST00000248098.8 | protein_coding | 1477 | chr16 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124265298 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01175.hp1 NA18522.hp2 NA18995.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0056a0001c0078others(1): Show | a0001c0002t0024a0001c0056t0002a0001c0078t0001others(1): Show | a0001c0002t0024g0006a0001c0056t0002g0014a0001c0078t0001g0056others(1): Show | 4 | 116 | 0.0345 | 31 | c.456 others(46): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 4/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KANSL1_chr17_46024916_46198429 | 46045440 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0305 | 1 | 321 | 0.0031 | 31 | c.202 others(50): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 7/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46045440 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01123.hp1 others(13): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024 | a0003c0004t0005g0301a0003c0004t0005g0302a0003c0004t0005g0304others(13): Show | 16 | 321 | 0.0498 | 31 | c.202 others(50): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 7/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CCTTTTTT others(24): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 321 | 0.0031 | 31 | c.129 others(50): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 321 | 0.0031 | 31 | c.129 others(50): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46125081 | G | GAGGGAGG others(24): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0001g0197others(2): Show | 5 | 321 | 0.0156 | 31 | c.129 others(52): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03831.hp1 NA18990.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0002 | a0001c0001t0002g0054a0001c0001t0002g0178a0001c0001t0003g0202others(1): Show | 4 | 374 | 0.0107 | 31 | c.230 others(50): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KATNA1_chr6_149589873_149653714 | 149613179 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0098 | 2 | 296 | 0.0068 | 31 | c.502 others(48): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 4/10 | chr6 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14831015 | G | GACCCAGG others(24): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0113 | 1 | 146 | 0.0069 | 31 | c.227 others(52): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883341 | A | AGAGAGAG others(24): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0110 | 1 | 146 | 0.0069 | 31 | c.227 others(50): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883354 | G | GGGAGGGA others(24): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0070 | 1 | 146 | 0.0069 | 31 | c.227 others(50): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15101164 | T | TCTCTCTC others(24): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 | 1 | 146 | 0.0069 | 31 | c.154 others(48): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 10/14 | chr1 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1988887 | T | TATATATG others(24): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02280.hp1 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0012 | a0001c0001t0008a0001c0007t0008a0002c0012t0008 | a0001c0001t0008g0018a0001c0001t0008g0291a0001c0007t0008g0288others(1): Show | 4 | 389 | 0.0103 | 31 | c.-90 others(52): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 2008141 | G | GCCCCCAC others(24): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0107 | 1 | 389 | 0.0026 | 31 | c.*50 others(42): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1206 | chr8 | TogoVar | ||||||
KBTBD2_chr7_32863172_32896760 | 32891893 | C | CCCGCCGC others(24): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 434 | 0.0023 | 31 | c.-69 others(40): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 134 | chr7 | TogoVar | ||||||
KCNA2_chr1_110588580_110611358 | 110591891 | C | CATGATTC others(24): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0160 | 1 | 438 | 0.0023 | 31 | c.*11 others(44): Show |
KCNA2 | ENSG00000177301.16 | transcript | ENST00000316361.10 | protein_coding | 1688 | chr1 | TogoVar | ||||||
KCNB1_chr20_49358877_49487668 | 49425670 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0001t0019others(2): Show | a0001c0001t0001g0135a0001c0001t0018g0120a0001c0001t0019g0012others(3): Show | 6 | 278 | 0.0216 | 31 | c.568 others(50): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75138979 | T | TAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0073a0001c0001t0002g0256 | 2 | 316 | 0.0063 | 31 | c.687 others(50): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79830880 | T | TACAGAGC others(24): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100 | 1 | 312 | 0.0032 | 31 | c.-11 others(52): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79830880 | T | TACAGAGC others(24): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 312 | 0.0032 | 31 | c.-11 others(52): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79830936 | C | CCTGCATA others(24): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 312 | 0.0032 | 31 | c.-11 others(52): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79831066 | G | GACAGAGC others(24): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02559.hp1 NA18980.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0116a0001c0001t0001g0147others(1): Show | 4 | 312 | 0.0128 | 31 | c.-11 others(52): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79831097 | G | GACAGAGC others(24): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01928.hp1 HG01978.hp2 others(30): Show |
a0001a0007 | a0001c0001a0001c0009a0007c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0052others(30): Show | 33 | 312 | 0.1058 | 31 | c.-11 others(52): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79831148 | G | GGTTCCCT others(24): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01934.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0183a0002c0002t0001g0188a0002c0002t0001g0189others(1): Show | 4 | 312 | 0.0128 | 31 | c.-11 others(52): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79831159 | G | GACAGAGC others(24): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0171 | 2 | 312 | 0.0064 | 31 | c.-11 others(52): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79831179 | G | GGTTCCCT others(24): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01081.hp2 others(4): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0004t0001 | a0002c0002t0001g0124a0002c0002t0002g0067a0002c0002t0002g0271others(4): Show | 7 | 312 | 0.0224 | 31 | c.-11 others(52): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79831190 | G | GACAGAGC others(24): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01256.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0002c0002t0002a0003c0006t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0019others(8): Show | 11 | 312 | 0.0353 | 31 | c.-11 others(52): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79831407 | G | GACAGAGC others(24): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02165.hp2 HG03017.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0006 | a0001c0001t0001a0001c0011t0001a0003c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0043others(4): Show | 7 | 312 | 0.0224 | 31 | c.-11 others(52): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79831593 | T | TACAGAGC others(24): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 312 | 0.0032 | 31 | c.-11 others(52): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNH1_chr1_210673314_211139148 | 210718546 | G | GTATATAT others(24): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0122 | 1 | 164 | 0.0061 | 31 | c.211 others(52): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210806826 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 164 | 0.0061 | 31 | c.146 others(50): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62853453 | A | AATCATAT others(24): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0037 | a0001c0001t0002g0084a0001c0001t0037g0106 | 2 | 224 | 0.0089 | 31 | c.137 others(50): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62853458 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02040.hp2 HG02080.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0029others(17): Show | 20 | 224 | 0.0893 | 31 | c.137 others(50): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62853460 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0017 | a0001c0001t0002g0008a0001c0001t0005g0154a0001c0001t0017g0126 | 3 | 224 | 0.0134 | 31 | c.137 others(50): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162724671 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 100 | 0.0100 | 31 | c.307 others(52): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | ||||||
KCNH8_chr3_19143510_19540642 | 19367406 | T | TTATATAT others(24): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02572.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0127a0001c0003t0002g0047 | 2 | 134 | 0.0149 | 31 | c.811 others(50): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNIP1_chr5_170499020_170741632 | 170618545 | A | AGGAGGGA others(24): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 218 | 0.0046 | 31 | c.62- others(50): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNIP4_chr4_20723606_21953772 | 21234276 | T | TATAACAT others(24): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0019 | 1 | 80 | 0.0125 | 31 | c.62- others(50): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868232 | C | CATATATT others(24): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01070.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0001g0032others(16): Show | 27 | 301 | 0.0897 | 31 | c.-12 others(42): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 937 | chr11 | TogoVar | ||||||
KCNK10_chr14_88175108_88328269 | 88197859 | G | GAGAGAGA others(24): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0009 | a0001c0009t0089 | a0001c0009t0089g0295 | 1 | 334 | 0.0030 | 31 | c.682 others(48): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90143172 | T | TTTCTTTC others(24): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0187 | 1 | 320 | 0.0031 | 31 | c.335 others(50): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KCNK13_chr14_90056994_90190853 | 90143176 | T | TTTCTTTC others(24): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01981.hp1 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212a0001c0001t0001g0216a0001c0001t0001g0275 | 3 | 320 | 0.0094 | 31 | c.335 others(50): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KCNK18_chr10_117192489_117215299 | 117192734 | C | CTTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0112 | 1 | 430 | 0.0023 | 31 | c.-47 others(42): Show |
KCNK18 | ENSG00000186795.1 | transcript | ENST00000334549.1 | protein_coding | 4754 | chr10 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215230546 | C | CATAACAG others(24): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03195.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0066a0001c0001t0068 | a0001c0001t0051g0259a0001c0001t0066g0258a0001c0001t0068g0236 | 3 | 260 | 0.0115 | 31 | c.964 others(48): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |