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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KANSL1L_chr2_210016421_210176409 | 210069789 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 98 | 0.0102 | -21 | c.175 others(40): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 6/14 | chr2 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46052964 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 a0001c0001t0002g0169 a0001c0001t0002g0174 |
3 | 60 | 0.0500 | -21 | c.184 others(40): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KASH5_chr19_49383249_49422990 | 49386749 | AGGGGAAG others(14): Show |
A | upstream_gene_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 352 | 0.0028 | -21 | c.-16 others(32): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 1499 | chr19 | TogoVar | |||||||
KASH5_chr19_49383249_49422990 | 49386769 | AGGGGAAG others(14): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(125): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(6): Show | a0001c0001t0001g0138 a0001c0001t0002g0008 a0001c0001t0002g0009 others(114): Show |
128 | 352 | 0.3636 | -21 | c.-16 others(32): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 1479 | chr19 | TogoVar | |||||||
KASH5_chr19_49383249_49422990 | 49389237 | AAGACCCC others(14): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0013g0202 |
3 | 352 | 0.0085 | -21 | c.-96 others(36): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106999 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 371 | 0.0027 | -21 | c.852 others(38): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 42054249 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0008 | a0001c0003t0003g0157 a0001c0003t0003g0159 a0001c0003t0003g0163 others(1): Show |
4 | 370 | 0.0108 | -21 | c.-26 others(32): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2263 | chr8 | TogoVar | |||||||
KATNA1_chr6_149589873_149653714 | 149625267 | ATCACTGA others(14): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 296 | 0.0034 | -21 | c.321 others(38): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14681649 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 135 | 0.0074 | -21 | c.226 others(40): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14681653 | ATATATTT others(14): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 131 | 0.0076 | -21 | c.226 others(40): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14918696 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 144 | 0.0069 | -21 | c.227 others(40): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14918700 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 143 | 0.0070 | -21 | c.227 others(40): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14918702 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 146 | 0.0068 | -21 | c.227 others(40): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14918706 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 142 | 0.0070 | -21 | c.227 others(40): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14943022 | GTGTGTGT others(14): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG02055.hp2 HG02451.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0025others(2): Show | a0001c0001t0002g0046 a0001c0001t0002g0090 a0001c0001t0008g0142 others(3): Show |
6 | 146 | 0.0411 | -21 | c.227 others(40): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
KCMF1_chr2_84966161_85064472 | 85008300 | TATATAAT others(14): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG03098.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0069a0001c0002t0024a0001c0002t0068 | a0001c0001t0069g0191 a0001c0002t0024g0188 a0001c0002t0024g0189 others(1): Show |
4 | 272 | 0.0147 | -21 | c.17- others(38): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNA7_chr19_49062397_49077699 | 49071984 | ATCTCCTC others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 394 | 0.0025 | -21 | c.555 others(34): Show |
KCNA7 | ENSG00000104848.2 | transcript | ENST00000221444.2 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
KCNAB1_chr3_156115578_156543605 | 156314257 | TATGTTAG others(14): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01884.hp2 HG02109.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(11): Show |
14 | 124 | 0.1129 | -21 | c.276 others(42): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNAB1_chr3_156115578_156543605 | 156370658 | TCCACAAT others(14): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0117 a0001c0001t0002g0004 |
2 | 124 | 0.0161 | -21 | c.276 others(40): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72597001 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0027 a0001c0001t0003g0071 |
2 | 37 | 0.0541 | -21 | c.579 others(40): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72828867 | GTTTGCAA others(14): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 164 | 0.0061 | -21 | c.580 others(42): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75201278 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0104 a0001c0001t0007g0100 |
2 | 314 | 0.0064 | -21 | c.687 others(38): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCND2_chr7_120268175_120755337 | 120604504 | AAATAACA others(14): Show |
A | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0036 | 1 | 70 | 0.0143 | -21 | c.111 others(44): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120712241 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 7 | 0.1429 | -21 | c.111 others(42): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCND3_chr1_111765662_111994668 | 111786514 | CTTTCACA others(14): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01106.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0069 others(46): Show |
49 | 224 | 0.2188 | -21 | c.126 others(38): Show |
KCND3 | ENSG00000171385.11 | transcript | ENST00000302127.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNE2_chr21_34359006_34376381 | 34368246 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03098.hp1 NA18946.hp2 NA18970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0096 |
5 | 430 | 0.0116 | -21 | c.-12 others(38): Show |
KCNE2 | ENSG00000159197.4 | transcript | ENST00000290310.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
KCNE3_chr11_74449841_74472549 | 74451258 | CTTTTTTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0041a0001c0001t0066others(2): Show | a0001c0001t0031g0079 a0001c0001t0041g0067 a0001c0001t0041g0068 others(3): Show |
6 | 47 | 0.1277 | -21 | c.*59 others(32): Show |
KCNE3 | ENSG00000175538.11 | transcript | ENST00000310128.9 | protein_coding | 3582 | chr11 | TogoVar | |||||||
KCNG3_chr2_42437017_42498982 | 42464925 | ACACTATA others(14): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0333 | 1 | 340 | 0.0029 | -21 | c.666 others(40): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210922383 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG02280.hp1 HG02818.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0034a0001c0005t0005 | a0001c0001t0002g0141 a0001c0001t0034g0159 a0001c0005t0005g0030 |
3 | 29 | 0.1034 | -21 | c.103 others(40): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
KCNH8_chr3_19143510_19540642 | 19308697 | TCTCTCTC others(14): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 128 | 0.0078 | -21 | c.442 others(40): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170534489 | GAGGAGGA others(14): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0024 | 1 | 218 | 0.0046 | -21 | c.61+ others(38): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20743010 | ATGTGAAG others(14): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01123.hp2 HG01243.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0020 others(20): Show |
23 | 75 | 0.3067 | -21 | c.429 others(38): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 20999417 | TTTTTTTT others(14): Show |
T | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 80 | 0.0125 | -21 | c.62- others(40): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21291866 | AAAAAGAA others(14): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0069 | 1 | 68 | 0.0147 | -21 | c.62- others(40): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ3_chr2_154693695_154863354 | 154736374 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0008g0030 |
3 | 41 | 0.0732 | -21 | c.919 others(40): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNJ3_chr2_154693695_154863354 | 154787554 | ATGTATTT others(14): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 282 | 0.0035 | -21 | c.920 others(40): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNJ3_chr2_154693695_154863354 | 154857886 | CAAAAAAA others(14): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0003 | a0001c0003t0040 | a0001c0003t0040g0006 | 1 | 13 | 0.0769 | -21 | c.*25 others(32): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 3/3 | 2594 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNJ6_chr21_37602373_37921457 | 37745072 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0157 | 1 | 2 | 0.5000 | -21 | c.26- others(38): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNJ9_chr1_160076538_160095563 | 160089931 | TAGGGTCC others(14): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18956.hp1 NA18982.hp1 NA19088.hp2 |
a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0004 a0002c0002t0013g0052 |
3 | 428 | 0.0070 | -21 | c.*21 others(32): Show |
KCNJ9 | ENSG00000162728.5 | transcript | ENST00000368088.4 | protein_coding | 3/3 | 2128 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK10_chr14_88175108_88328269 | 88220416 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0225 | 1 | 56 | 0.0179 | -21 | c.681 others(38): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90154310 | ACCTGCTC others(14): Show |
A | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0297 | 1 | 318 | 0.0031 | -21 | c.335 others(40): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK15_chr20_44740865_44757313 | 44755386 | TCTAGTCC others(14): Show |
T | downstream_gene_variant | MODIFIER | NA19059.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 420 | 0.0024 | -21 | c.*45 others(32): Show |
KCNK15 | ENSG00000124249.7 | transcript | ENST00000372861.5 | protein_coding | 3074 | chr20 | TogoVar | |||||||
KCNK2_chr1_215077737_215242090 | 215209455 | ATATATTA others(14): Show |
A | intron_variant | MODIFIER | NA18968.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0219 a0001c0001t0005g0199 |
2 | 258 | 0.0078 | -21 | c.963 others(40): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209967 | TATATTAT others(14): Show |
T | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0088 | 1 | 258 | 0.0039 | -21 | c.963 others(40): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK4_chr11_64286302_64305031 | 64302887 | TTTTTTTT others(14): Show |
T | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 404 | 0.0025 | -21 | c.*31 others(32): Show |
KCNK4 | ENSG00000182450.14 | transcript | ENST00000422670.7 | protein_coding | 2857 | chr11 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77427534 | GCTAACAC others(14): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0067 | 1 | 106 | 0.0094 | -21 | c.379 others(40): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759068 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG02027.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125 a0001c0001t0004g0129 |
2 | 228 | 0.0088 | -21 | c.-67 others(40): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759655 | CCAAGAGG others(14): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 232 | 0.0043 | -21 | c.-67 others(40): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178788171 | GAGGAACA others(14): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 232 | 0.0043 | -21 | c.-67 others(40): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN1_chr19_17962107_18005085 | 17970289 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 2 | 0.5000 | -21 | c.-82 others(38): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |