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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNB1_chr20_49358877_49487668 | 49396353 | G | GTAAAATA others(13): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02572.hp1 HG03041.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0023others(5): Show | a0001c0001t0002g0210 a0001c0001t0003g0102 a0001c0001t0003g0208 others(7): Show |
10 | 278 | 0.0360 | 20 | c.568 others(39): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNB1_chr20_49358877_49487668 | 49425650 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0110 | 1 | 278 | 0.0036 | 20 | c.568 others(39): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNB1_chr20_49358877_49487668 | 49483106 | T | TTTTTTTA others(13): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 278 | 0.0036 | 20 | c.-62 others(29): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 439 | chr20 | TogoVar | |||||||
KCNB2_chr8_72532225_72943349 | 72536028 | A | AAAATAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01069.hp2 HG01978.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0003a0001c0003t0001others(1): Show | a0001c0001t0003g0159 a0001c0002t0003g0141 a0001c0003t0001g0012 others(1): Show |
4 | 164 | 0.0244 | 20 | c.-19 others(31): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 1196 | chr8 | TogoVar | |||||||
KCNB2_chr8_72532225_72943349 | 72561760 | T | TATACATA others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 NA19043.hp2 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0011t0001 | a0001c0003t0001g0015 a0001c0011t0001g0014 |
2 | 164 | 0.0122 | 20 | c.-93 others(37): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
KCNB2_chr8_72532225_72943349 | 72778733 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 164 | 0.0061 | 20 | c.580 others(41): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72882520 | T | TGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0048 | 1 | 164 | 0.0061 | 20 | c.580 others(39): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNC1_chr11_17729781_17788057 | 17734263 | G | GGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(94): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(89): Show |
97 | 332 | 0.2922 | 20 | c.-17 others(31): Show |
KCNC1 | ENSG00000129159.9 | transcript | ENST00000265969.8 | protein_coding | 517 | chr11 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75075458 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03017.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0057 a0001c0001t0001g0175 others(1): Show |
4 | 316 | 0.0127 | 20 | c.688 others(39): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75084290 | T | TAGATAGA others(13): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0023 | a0001c0001t0015g0091 a0001c0001t0023g0109 |
2 | 316 | 0.0063 | 20 | c.688 others(39): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75086679 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18959.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0183 a0001c0001t0003g0055 a0001c0001t0003g0148 |
3 | 316 | 0.0095 | 20 | c.688 others(39): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75138979 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0303 | 1 | 316 | 0.0032 | 20 | c.687 others(39): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75177032 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0003t0009 | a0001c0001t0001g0093 a0001c0001t0015g0092 a0001c0003t0009g0295 |
3 | 316 | 0.0095 | 20 | c.687 others(39): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75177057 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0039 | a0001c0001t0005g0083 a0001c0001t0039g0316 |
2 | 316 | 0.0063 | 20 | c.687 others(39): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCND2_chr7_120268175_120755337 | 120309452 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0056 |
2 | 80 | 0.0250 | 20 | c.111 others(41): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120352349 | A | AATACATA others(13): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03195.hp1 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0019a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0019g0008 a0001c0001t0020g0006 a0001c0001t0021g0005 others(1): Show |
4 | 80 | 0.0500 | 20 | c.111 others(41): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120435091 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 80 | 0.0125 | 20 | c.111 others(43): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120578916 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0038 | 1 | 80 | 0.0125 | 20 | c.111 others(43): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120578946 | A | ACAAAGAA others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 80 | 0.0125 | 20 | c.111 others(43): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120727251 | A | ATCATGCA others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 80 | 0.0125 | 20 | c.111 others(39): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCND3_chr1_111765662_111994668 | 111960871 | A | AGGCCTGG others(13): Show |
intron_variant | MODIFIER | NA19007.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0034 | a0001c0001t0002g0045 a0001c0001t0034g0043 |
2 | 226 | 0.0089 | 20 | c.110 others(41): Show |
KCND3 | ENSG00000171385.11 | transcript | ENST00000302127.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
KCND3_chr1_111765662_111994668 | 111965438 | C | CCACACAC others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG02486.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0002g0037 others(9): Show |
12 | 226 | 0.0531 | 20 | c.110 others(41): Show |
KCND3 | ENSG00000171385.11 | transcript | ENST00000302127.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
KCNE1_chr21_34441690_34517210 | 34450851 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 18 | 0.0556 | 20 | c.-50 others(37): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNE2_chr21_34359006_34376381 | 34368229 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 434 | 0.0023 | 20 | c.-12 others(37): Show |
KCNE2 | ENSG00000159197.4 | transcript | ENST00000290310.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
KCNE3_chr11_74449841_74472549 | 74456155 | A | AATATATA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0042 | a0001c0001t0006g0008 a0001c0001t0006g0047 a0001c0001t0006g0103 others(13): Show |
22 | 446 | 0.0493 | 20 | c.*10 others(31): Show |
KCNE3 | ENSG00000175538.11 | transcript | ENST00000310128.9 | protein_coding | 3/3 | 1096 | chr11 | TogoVar | ||||||
KCNE3_chr11_74449841_74472549 | 74468691 | T | TCTTCCTT others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0026 | a0001c0001t0025g0020 a0001c0001t0026g0027 |
2 | 446 | 0.0045 | 20 | c.-14 others(31): Show |
KCNE3 | ENSG00000175538.11 | transcript | ENST00000310128.9 | protein_coding | 1143 | chr11 | TogoVar | |||||||
KCNE3_chr11_74449841_74472549 | 74468691 | T | TCTTTCTT others(13): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 NA18946.hp1 NA18949.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004a0001c0002t0056 | a0001c0001t0002g0024 a0001c0002t0004g0015 a0001c0002t0056g0272 |
3 | 446 | 0.0067 | 20 | c.-14 others(31): Show |
KCNE3 | ENSG00000175538.11 | transcript | ENST00000310128.9 | protein_coding | 1143 | chr11 | TogoVar | |||||||
KCNE4_chr2_223047190_223060637 | 223049803 | G | GTTCTATT others(13): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 HG03486.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 2 | 358 | 0.0056 | 20 | c.-24 others(31): Show |
KCNE4 | ENSG00000152049.7 | transcript | ENST00000281830.4 | protein_coding | 2386 | chr2 | TogoVar | |||||||
KCNE4_chr2_223047190_223060637 | 223049808 | G | GTTCTATT others(13): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(8): Show | a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0009g0007 others(8): Show |
34 | 358 | 0.0950 | 20 | c.-24 others(31): Show |
KCNE4 | ENSG00000152049.7 | transcript | ENST00000281830.4 | protein_coding | 2381 | chr2 | TogoVar | |||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01071.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0039 a0001c0001t0003g0070 a0001c0001t0003g0251 others(1): Show |
4 | 342 | 0.0117 | 20 | c.666 others(37): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18951.hp1 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 a0001c0001t0003g0104 a0001c0001t0003g0229 others(1): Show |
4 | 342 | 0.0117 | 20 | c.666 others(37): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNG3_chr2_42437017_42498982 | 42457627 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 342 | 0.0029 | 20 | c.666 others(39): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210759156 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0014others(4): Show | a0001c0001t0005g0013 a0001c0001t0005g0147 a0001c0001t0012g0136 others(5): Show |
8 | 164 | 0.0488 | 20 | c.211 others(41): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210806822 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 164 | 0.0061 | 20 | c.146 others(39): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210832907 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01346.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0015 | a0001c0001t0003g0103 a0001c0001t0003g0130 a0001c0002t0001g0089 others(1): Show |
4 | 164 | 0.0244 | 20 | c.146 others(41): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210832921 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0007 | a0001c0007t0022 | a0001c0007t0022g0072 | 1 | 164 | 0.0061 | 20 | c.146 others(41): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210856898 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0104 a0001c0001t0006g0031 |
2 | 164 | 0.0122 | 20 | c.146 others(41): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 211050260 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0021 a0001c0002t0001g0033 |
2 | 164 | 0.0122 | 20 | c.559 others(39): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 211115701 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG03710.hp2 NA19062.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001 | a0001c0001t0006g0116 a0001c0002t0001g0119 |
2 | 164 | 0.0122 | 20 | c.80- others(35): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 211115730 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0121 | 1 | 164 | 0.0061 | 20 | c.80- others(35): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
KCNH2_chr7_150939961_150983321 | 150962627 | C | CAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03704.hp1 HG03704.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0001 | a0001c0003t0001g0252 a0002c0004t0001g0114 a0002c0004t0001g0253 others(2): Show |
5 | 358 | 0.0140 | 20 | c.308 others(37): Show |
KCNH2 | ENSG00000055118.17 | transcript | ENST00000262186.10 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62947714 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 NA20129.hp2 |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0044 | a0001c0003t0011g0172 a0001c0003t0044g0173 |
2 | 224 | 0.0089 | 20 | c.136 others(39): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 63047162 | G | GCCTCCCC others(13): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG02258.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0009t0001others(1): Show | a0001c0001t0001g0143 a0001c0001t0005g0028 a0001c0009t0001g0097 others(1): Show |
4 | 224 | 0.0179 | 20 | c.-19 others(31): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 1705 | chr14 | TogoVar | |||||||
KCNH6_chr17_63518358_63551727 | 63523003 | A | AGCCCCGC others(13): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
a0001a0004a0007 | a0001c0002a0001c0005a0001c0007others(4): Show | a0001c0002t0001a0001c0005t0001a0001c0007t0002others(4): Show | a0001c0002t0001g0120 a0001c0005t0001g0093 a0001c0005t0001g0122 others(5): Show |
9 | 324 | 0.0278 | 20 | c.-41 others(29): Show |
KCNH6 | ENSG00000173826.15 | transcript | ENST00000314672.10 | protein_coding | 354 | chr17 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162429383 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02970.hp2 HG03098.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0026 a0001c0001t0001g0048 a0003c0004t0001g0079 |
3 | 100 | 0.0300 | 20 | c.195 others(39): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 8/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162577291 | G | GTCTATCT others(13): Show |
intron_variant | MODIFIER | HG02132.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 |
2 | 100 | 0.0200 | 20 | c.308 others(39): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNH8_chr3_19143510_19540642 | 19170613 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0127 | 1 | 134 | 0.0075 | 20 | c.76+ others(37): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNH8_chr3_19143510_19540642 | 19239678 | C | CTATCTAT others(13): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0128 | 1 | 134 | 0.0075 | 20 | c.77- others(37): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNH8_chr3_19143510_19540642 | 19258947 | C | CTCTCTAT others(13): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0098 | 1 | 134 | 0.0075 | 20 | c.310 others(37): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNH8_chr3_19143510_19540642 | 19326356 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG06807.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0126 |
2 | 134 | 0.0149 | 20 | c.443 others(39): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |