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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(31): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0214 | 1 | 321 | 0.0031 | 38 | c.129 others(57): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL3_chr2_96588172_96643312 | 96615165 | C | CAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 2 | 340 | 0.0059 | 38 | c.664 others(55): Show |
KANSL3 | ENSG00000114982.19 | transcript | ENST00000431828.6 | protein_coding | 5/20 | chr2 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02056.hp1 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049a0001c0001t0002g0087a0001c0001t0002g0110 | 3 | 374 | 0.0080 | 38 | c.230 others(57): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT6A_chr8_41924479_42056987 | 42054262 | A | AAAAAAAA others(31): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0019 | a0001c0019t0007 | a0001c0019t0007g0168 | 1 | 374 | 0.0027 | 38 | c.-26 others(49): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2276 | chr8 | TogoVar | ||||||
KATNAL1_chr13_30197630_30312551 | 30266582 | A | ACATTTAA others(31): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0354 | 1 | 386 | 0.0026 | 38 | c.324 others(57): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
KATNBL1_chr15_34135674_34215096 | 34181856 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02698.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013a0001c0001t0003g0015a0001c0001t0003g0048 | 3 | 344 | 0.0087 | 38 | c.-14 others(57): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14695510 | C | CTTTTTTT others(31): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0036 | 1 | 146 | 0.0069 | 38 | c.226 others(57): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 15101164 | T | TTCTCTCT others(31): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01358.hp2 HG02523.hp1 others(3): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0002t0007a0002c0002t0030others(1): Show | a0002c0002t0001g0061a0002c0002t0001g0105a0002c0002t0007g0072others(3): Show | 6 | 146 | 0.0411 | 38 | c.154 others(55): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KBTBD2_chr7_32863172_32896760 | 32891887 | G | GCCGCCCC others(31): Show |
upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 434 | 0.0023 | 38 | c.-69 others(47): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 128 | chr7 | TogoVar | ||||||
KCNB1_chr20_49358877_49487668 | 49463713 | C | CACACACA others(31): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02735.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0041a0001c0001t0085 | a0001c0001t0006g0254a0001c0001t0041g0004a0001c0001t0085g0057 | 3 | 278 | 0.0108 | 38 | c.567 others(57): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
KCNB1_chr20_49358877_49487668 | 49463721 | C | CACACACA others(31): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02109.hp1 HG02145.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(8): Show | a0001c0001t0001g0030a0001c0001t0004g0011a0001c0001t0012g0056others(11): Show | 14 | 278 | 0.0504 | 38 | c.567 others(57): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72920463 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0148 | 1 | 164 | 0.0061 | 38 | c.580 others(57): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNC4_chr1_110205314_110239044 | 110238764 | A | ACCCACCC others(31): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 430 | 0.0023 | 38 | c.*57 others(49): Show |
KCNC4 | ENSG00000116396.15 | transcript | ENST00000438661.3 | protein_coding | 4721 | chr1 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79861761 | A | ATGCAAAA others(31): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 312 | 0.0032 | 38 | c.-40 others(55): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNH1_chr1_210673314_211139148 | 210759156 | G | GACACACA others(31): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0146 | 1 | 164 | 0.0061 | 38 | c.211 others(59): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210806822 | A | AATATATA others(31): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0017 | 1 | 164 | 0.0061 | 38 | c.146 others(57): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210806828 | A | AATATATA others(31): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 164 | 0.0061 | 38 | c.146 others(57): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210806836 | A | AATATATA others(31): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0056 | 1 | 164 | 0.0061 | 38 | c.146 others(57): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210856898 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19058.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0095a0001c0002t0001g0090 | 2 | 164 | 0.0122 | 38 | c.146 others(59): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 211045041 | G | GATATATA others(31): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 164 | 0.0061 | 38 | c.559 others(57): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 5/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 211045041 | G | GATATATA others(31): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02145.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0018a0001c0001t0019others(2): Show | a0001c0001t0002g0010a0001c0001t0018g0087a0001c0001t0019g0109others(4): Show | 7 | 164 | 0.0427 | 38 | c.559 others(57): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 5/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 211045049 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02723.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014a0001c0001t0016others(1): Show | a0001c0001t0009g0063a0001c0001t0014g0062a0001c0001t0016g0065others(1): Show | 4 | 164 | 0.0244 | 38 | c.559 others(57): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 5/10 | chr1 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20802198 | A | ATATATGC others(31): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027 | 1 | 80 | 0.0125 | 38 | c.289 others(57): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 3/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21388091 | A | AGAAAGAT others(31): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0032 | 1 | 80 | 0.0125 | 38 | c.62- others(57): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21400465 | T | TTTCTCCT others(31): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0029 | 1 | 80 | 0.0125 | 38 | c.62- others(57): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ10_chr1_160032467_160075160 | 160049671 | T | TTATTTAT others(31): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0186 | 1 | 408 | 0.0025 | 38 | c.1-7 others(51): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
KCNJ10_chr1_160032467_160075160 | 160049677 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 | 1 | 408 | 0.0025 | 38 | c.1-7 others(51): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
KCNJ10_chr1_160032467_160075160 | 160049679 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0176a0001c0001t0011g0125 | 2 | 408 | 0.0049 | 38 | c.1-7 others(51): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
KCNJ10_chr1_160032467_160075160 | 160049681 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01255.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0169a0001c0001t0003g0170a0001c0001t0016g0168 | 3 | 408 | 0.0074 | 38 | c.1-7 others(51): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
KCNJ15_chr21_38251991_38312357 | 38256360 | T | TTATATAT others(31): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG03540.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0018a0001c0003t0005 | a0001c0001t0018g0012a0001c0003t0005g0035a0001c0003t0005g0194 | 5 | 406 | 0.0123 | 38 | c.-94 others(47): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 630 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37616590 | C | CATATATA others(31): Show |
3_prime_UTR_variant | MODIFIER | HG02895.hp2 HG03453.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0166a0001c0001t0167a0001c0001t0169 | a0001c0001t0166g0146a0001c0001t0167g0015a0001c0001t0169g0166 | 3 | 198 | 0.0152 | 38 | c.*85 others(49): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8568 | chr21 | TogoVar | |||||
KCNJ6_chr21_37602373_37921457 | 37630134 | C | CTGTGTGT others(31): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01433.hp1 HG02165.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0064a0001c0001t0110a0001c0003t0111others(5): Show | a0001c0001t0064g0101a0001c0001t0110g0074a0001c0003t0111g0077others(5): Show | 8 | 198 | 0.0404 | 38 | c.947 others(55): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37756604 | C | CCTCACAG others(31): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02922.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0061a0001c0001t0084others(3): Show | a0001c0001t0012g0159a0001c0001t0061g0172a0001c0001t0084g0006others(3): Show | 6 | 198 | 0.0303 | 38 | c.26- others(55): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37756629 | A | AGAGTGAG others(31): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(74): Show | a0001c0001t0001g0020a0001c0001t0001g0132a0001c0001t0002g0069others(79): Show | 82 | 198 | 0.4141 | 38 | c.26- others(55): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37756735 | C | CGGAGTGA others(31): Show |
intron_variant | MODIFIER | HG02976.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0057 | a0001c0001t0021g0143a0001c0001t0057g0193 | 2 | 198 | 0.0101 | 38 | c.26- others(55): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37756813 | A | ACTCCCTC others(31): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0063a0001c0001t0087a0001c0001t0095others(3): Show | a0001c0001t0063g0149a0001c0001t0087g0144a0001c0001t0095g0138others(3): Show | 6 | 198 | 0.0303 | 38 | c.26- others(55): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37756825 | T | TGTGATGA others(31): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0003 | a0001c0003t0182 | a0001c0003t0182g0033 | 1 | 198 | 0.0051 | 38 | c.26- others(55): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37757026 | A | ACTCCCTC others(31): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0153 | a0001c0001t0024g0083a0001c0002t0153g0096 | 2 | 198 | 0.0101 | 38 | c.26- others(55): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37757038 | T | TGTGATGA others(31): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0053a0001c0002t0006g0091 | 2 | 198 | 0.0101 | 38 | c.26- others(55): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37757420 | A | AGAGTGAG others(31): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0131 | 1 | 198 | 0.0051 | 38 | c.26- others(55): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37757590 | A | AGATTCCA others(31): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02738.hp1 HG03654.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0107a0001c0002t0157a0001c0003t0128 | a0001c0001t0107g0087a0001c0002t0157g0052a0001c0003t0128g0153 | 3 | 198 | 0.0152 | 38 | c.26- others(55): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37853846 | G | GTGTGTAT others(31): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0128 | a0001c0003t0128g0153 | 1 | 198 | 0.0051 | 38 | c.-27 others(57): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
KCNK10_chr14_88175108_88328269 | 88319731 | A | AACTTGGA others(31): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 334 | 0.0030 | 38 | c.52+ others(53): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
KCNK15_chr20_44740865_44757313 | 44742517 | A | AGCTGAAG others(31): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 1 | 422 | 0.0024 | 38 | c.-33 others(49): Show |
KCNK15 | ENSG00000124249.7 | transcript | ENST00000372861.5 | protein_coding | 3347 | chr20 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233659888 | T | TAAGACAC others(31): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 422 | 0.0024 | 38 | c.356 others(55): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215209667 | A | AATATATA others(31): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0139 | 1 | 260 | 0.0039 | 38 | c.963 others(57): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215209701 | A | ATTATATA others(31): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG02895.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0035a0001c0002t0002a0001c0002t0033 | a0001c0001t0035g0141a0001c0002t0002g0171a0001c0002t0033g0170 | 3 | 260 | 0.0115 | 38 | c.963 others(57): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77555057 | T | TACACACA others(31): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 106 | 0.0094 | 38 | c.378 others(57): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAATA others(31): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 | 1 | 432 | 0.0023 | 38 | c.-12 others(49): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAATATA others(31): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0007 | 1 | 432 | 0.0023 | 38 | c.-12 others(49): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar |