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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KAZN_chr1_14593685_15123043 | 15101164 | T | TTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02451.hp2 HG04199.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0029 | a0002c0002t0001g0114a0002c0002t0005g0037a0002c0002t0029g0065 | 3 | 146 | 0.0206 | 32 | c.154 others(49): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KBTBD2_chr7_32863172_32896760 | 32885017 | T | TATACACA others(25): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0185 | 1 | 434 | 0.0023 | 32 | c.-33 others(51): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 1/3 | chr7 | TogoVar | ||||||
KBTBD2_chr7_32863172_32896760 | 32891881 | G | GCCCCCGC others(25): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0048 | 1 | 434 | 0.0023 | 32 | c.-68 others(41): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 122 | chr7 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 85060028 | T | TGTGTGTG others(25): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0082 | 1 | 274 | 0.0037 | 32 | c.*66 others(43): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 557 | chr2 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72882520 | T | TGAGAGAG others(25): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0128 | 1 | 164 | 0.0061 | 32 | c.580 others(51): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNC2_chr12_75035078_75214839 | 75084290 | T | TAGATAGA others(25): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0007 | 1 | 316 | 0.0032 | 32 | c.688 others(51): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75084290 | T | TAGATAGA others(25): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0093a0001c0001t0001g0101 | 3 | 316 | 0.0095 | 32 | c.688 others(51): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120575960 | T | TTTTTCCT others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00621.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0019others(35): Show | 38 | 80 | 0.4750 | 32 | c.111 others(55): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCND2_chr7_120268175_120755337 | 120575960 | T | TTTTTCCT others(25): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02109.hp1 HG02622.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0015a0001c0001t0001g0021a0001c0001t0001g0022others(23): Show | 26 | 80 | 0.3250 | 32 | c.111 others(55): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCNE3_chr11_74449841_74472549 | 74456155 | A | AATATATA others(25): Show |
3_prime_UTR_variant | MODIFIER | HG02083.hp2 HG02523.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0127a0001c0001t0029g0155a0001c0001t0029g0192 | 3 | 446 | 0.0067 | 32 | c.*10 others(43): Show |
KCNE3 | ENSG00000175538.11 | transcript | ENST00000310128.9 | protein_coding | 3/3 | 1096 | chr11 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79878258 | A | AGAGGGCA others(25): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01258.hp1 HG02148.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0172a0001c0001t0001g0268others(2): Show | 5 | 312 | 0.0160 | 32 | c.624 others(51): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79878258 | A | AGAGGGCG others(25): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03041.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0139a0001c0001t0001g0157a0001c0001t0001g0177others(3): Show | 6 | 312 | 0.0192 | 32 | c.624 others(51): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79878289 | C | CGGAGGGC others(25): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0113 | 1 | 312 | 0.0032 | 32 | c.624 others(51): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79878493 | G | GCCACGTG others(25): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 312 | 0.0032 | 32 | c.624 others(51): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNH1_chr1_210673314_211139148 | 210806830 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 164 | 0.0061 | 32 | c.146 others(51): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210832907 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0129a0001c0001t0006g0116 | 2 | 164 | 0.0122 | 32 | c.146 others(53): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210856877 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 164 | 0.0061 | 32 | c.146 others(53): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210856877 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 164 | 0.0061 | 32 | c.146 others(53): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210856898 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG03704.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0091a0001c0002t0001g0028a0001c0002t0001g0029 | 3 | 164 | 0.0183 | 32 | c.146 others(53): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 211045041 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02293.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0002t0001a0001c0007t0022 | a0001c0001t0002g0014a0001c0001t0002g0026a0001c0002t0001g0124others(2): Show | 5 | 164 | 0.0305 | 32 | c.559 others(51): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 5/10 | chr1 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162641756 | A | ATAGTTTT others(25): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02145.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0008t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0020a0001c0001t0001g0031others(13): Show | 16 | 100 | 0.1600 | 32 | c.308 others(53): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | ||||||
KCNH8_chr3_19143510_19540642 | 19308689 | T | TCTCTCCC others(25): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 134 | 0.0075 | 32 | c.442 others(51): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19308705 | T | TCTCTCCC others(25): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01952.hp1 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036a0001c0001t0003g0109a0001c0001t0003g0111 | 3 | 134 | 0.0224 | 32 | c.442 others(51): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNIP4_chr4_20723606_21953772 | 20864123 | T | TATACACA others(25): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0022a0001c0001t0001g0060others(4): Show | 7 | 80 | 0.0875 | 32 | c.164 others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 2/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20864211 | C | CATGTATA others(25): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0072 | 1 | 80 | 0.0125 | 32 | c.164 others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 2/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20932346 | T | TAACAGTC others(25): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0072 | 1 | 80 | 0.0125 | 32 | c.62- others(49): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21112025 | G | GTATCCAT others(25): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0003 | a0001c0001t0004g0026a0001c0003t0003g0029 | 2 | 80 | 0.0250 | 32 | c.62- others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21112025 | G | GTATCCAT others(25): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0054a0001c0001t0001g0075a0001c0001t0002g0001others(4): Show | 7 | 80 | 0.0875 | 32 | c.62- others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21226354 | A | AGAAGGAA others(25): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03195.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0054a0001c0001t0003g0080a0001c0001t0007g0032 | 3 | 80 | 0.0375 | 32 | c.62- others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21234333 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 80 | 0.0125 | 32 | c.62- others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21558493 | A | AAAATAAA others(25): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0075a0001c0001t0007g0046 | 2 | 80 | 0.0250 | 32 | c.61+ others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21589330 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0005 | a0001c0001t0005g0027a0001c0002t0005g0062 | 2 | 80 | 0.0250 | 32 | c.61+ others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21798562 | A | AAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 80 | 0.0125 | 32 | c.61+ others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ10_chr1_160032467_160075160 | 160049677 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 408 | 0.0025 | 32 | c.1-7 others(45): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
KCNJ10_chr1_160032467_160075160 | 160049679 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 408 | 0.0025 | 32 | c.1-7 others(45): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
KCNJ10_chr1_160032467_160075160 | 160049681 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0003c0003t0006 | a0001c0001t0006g0279a0003c0003t0006g0158 | 2 | 408 | 0.0049 | 32 | c.1-7 others(45): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
KCNJ10_chr1_160032467_160075160 | 160049683 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 408 | 0.0025 | 32 | c.1-7 others(45): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
KCNJ14_chr19_48450574_48471980 | 48471166 | T | TTGTGTGT others(25): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0081 | 1 | 392 | 0.0026 | 32 | c.*63 others(43): Show |
KCNJ14 | ENSG00000182324.7 | transcript | ENST00000342291.3 | protein_coding | 4187 | chr19 | TogoVar | ||||||
KCNJ15_chr21_38251991_38312357 | 38256360 | T | TTATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0001t0018a0001c0001t0063others(4): Show | a0001c0001t0010g0033a0001c0001t0010g0202a0001c0001t0018g0012others(7): Show | 10 | 406 | 0.0246 | 32 | c.-94 others(41): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 630 | chr21 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868232 | C | CATATATT others(25): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01123.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0135others(12): Show | 18 | 301 | 0.0598 | 32 | c.-12 others(43): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 937 | chr11 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37616587 | G | GTACATAT others(25): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0137 | a0001c0001t0137g0031 | 1 | 198 | 0.0051 | 32 | c.*85 others(43): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8571 | chr21 | TogoVar | |||||
KCNJ6_chr21_37602373_37921457 | 37616590 | C | CATATATA others(25): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0040 | a0001c0001t0039g0021a0001c0001t0040g0086 | 2 | 198 | 0.0101 | 32 | c.*85 others(43): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8568 | chr21 | TogoVar | |||||
KCNJ6_chr21_37602373_37921457 | 37616590 | C | CATATATA others(25): Show |
3_prime_UTR_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0101 | 1 | 198 | 0.0051 | 32 | c.*85 others(43): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8568 | chr21 | TogoVar | |||||
KCNJ6_chr21_37602373_37921457 | 37630134 | C | CTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01891.hp1 HG01975.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0065a0001c0001t0096a0001c0001t0162others(6): Show | a0001c0001t0065g0118a0001c0001t0096g0163a0001c0001t0162g0017others(6): Show | 9 | 198 | 0.0455 | 32 | c.947 others(49): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37853846 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0108 | 1 | 198 | 0.0051 | 32 | c.-27 others(51): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37853846 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0130 | 1 | 198 | 0.0051 | 32 | c.-27 others(51): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
KCNK10_chr14_88175108_88328269 | 88212109 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0321 | 1 | 334 | 0.0030 | 32 | c.681 others(51): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | ||||||
KCNK10_chr14_88175108_88328269 | 88310239 | A | ATCATATG others(25): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0021a0001c0001t0046others(1): Show | a0001c0001t0006g0225a0001c0001t0021g0211a0001c0001t0046g0212others(1): Show | 4 | 334 | 0.0120 | 32 | c.52+ others(49): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233672613 | G | GTATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0217 | 1 | 422 | 0.0024 | 32 | c.*10 others(43): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 100 | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209233 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0067 | a0001c0001t0014g0153a0001c0001t0067g0096 | 2 | 260 | 0.0077 | 32 | c.963 others(51): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |