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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNG3_chr2_42437017_42498982 | 42452220 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 | 1 | 342 | 0.0029 | 24 | c.666 others(41): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 342 | 0.0029 | 24 | c.666 others(41): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210759156 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03491.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0027 | a0001c0001t0002g0009a0001c0006t0027g0079 | 2 | 164 | 0.0122 | 24 | c.211 others(45): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210806822 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0159 | 1 | 164 | 0.0061 | 24 | c.146 others(43): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210806828 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0160 | 1 | 164 | 0.0061 | 24 | c.146 others(43): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210832907 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02293.hp2 HG02300.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0153a0001c0001t0003g0115a0001c0002t0001g0118others(2): Show | 5 | 164 | 0.0305 | 24 | c.146 others(45): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210856898 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0111 | 1 | 164 | 0.0061 | 24 | c.146 others(45): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 211045041 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 164 | 0.0061 | 24 | c.559 others(43): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 5/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 211115701 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 164 | 0.0061 | 24 | c.80- others(39): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162429383 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18982.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0052a0001c0001t0001g0099 | 3 | 100 | 0.0300 | 24 | c.195 others(43): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 8/15 | chr2 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162752954 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 100 | 0.0100 | 24 | c.307 others(43): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162820209 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 100 | 0.0100 | 24 | c.307 others(43): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | ||||||
KCNH8_chr3_19143510_19540642 | 19206168 | G | GTGTGTAT others(17): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0108 | 1 | 134 | 0.0075 | 24 | c.77- others(41): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19206168 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0123 | 1 | 134 | 0.0075 | 24 | c.77- others(41): 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(17): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 134 | 0.0075 | 24 | c.310 others(41): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19258947 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 134 | 0.0075 | 24 | c.310 others(41): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19308697 | T | TCTCTCCC others(17): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 134 | 0.0075 | 24 | c.442 others(43): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19308713 | T | TCTCTCCC others(17): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 134 | 0.0075 | 24 | c.442 others(43): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19308719 | C | CCCCTCTC others(17): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 134 | 0.0075 | 24 | c.442 others(43): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19326356 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18747.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0073a0001c0001t0002g0076a0001c0001t0004g0014 | 3 | 134 | 0.0224 | 24 | c.443 others(43): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19403361 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 134 | 0.0075 | 24 | c.117 others(43): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNIP1_chr5_170499020_170741632 | 170503985 | C | CCCGCCGC others(17): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0106 | 1 | 218 | 0.0046 | 24 | c.-58 others(33): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 34 | chr5 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20833484 | C | CAATAATA others(17): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02922.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0013a0001c0001t0001g0056a0001c0001t0007g0016 | 3 | 80 | 0.0375 | 24 | c.288 others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 3/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20922547 | G | GTCTGTCT others(17): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 80 | 0.0125 | 24 | c.62- others(41): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20922547 | G | GTCTGTCT others(17): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0033 | 1 | 80 | 0.0125 | 24 | c.62- others(41): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20988000 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0033 | 1 | 80 | 0.0125 | 24 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21046578 | A | AATTTATT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0037others(9): Show | 12 | 80 | 0.1500 | 24 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21046585 | T | TTATTTAT others(17): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0019 | 1 | 80 | 0.0125 | 24 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21112025 | G | GTATCCAT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02486.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0012a0001c0001t0001g0037a0001c0001t0001g0056others(9): Show | 12 | 80 | 0.1500 | 24 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21147939 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03195.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0051a0001c0001t0001g0054a0001c0001t0013g0059 | 3 | 80 | 0.0375 | 24 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21147956 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0024a0001c0001t0007g0032 | 2 | 80 | 0.0250 | 24 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21147962 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0048 | 1 | 80 | 0.0125 | 24 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21199732 | A | ACATGCAC others(17): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01243.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0013a0001c0001t0001g0024a0001c0001t0001g0031others(48): Show | 51 | 80 | 0.6375 | 24 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21226354 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0020a0001c0001t0011g0003 | 2 | 80 | 0.0250 | 24 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21304081 | G | GAGACAGA others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0075a0001c0001t0002g0074 | 2 | 80 | 0.0250 | 24 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21320964 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055a0001c0002t0001g0065 | 2 | 80 | 0.0250 | 24 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21322152 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0053 | 1 | 80 | 0.0125 | 24 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21501688 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 80 | 0.0125 | 24 | c.61+ others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21501688 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03654.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0038a0001c0002t0002g0011 | 2 | 80 | 0.0250 | 24 | c.61+ others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21519582 | G | GTATATGT others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0002t0001others(1): Show | a0001c0001t0001g0064a0001c0001t0001g0066a0001c0001t0015g0023others(2): Show | 5 | 80 | 0.0625 | 24 | c.61+ others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21558493 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02622.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0014a0001c0001t0001g0022a0001c0002t0001g0009others(1): Show | 4 | 80 | 0.0500 | 24 | c.61+ others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21798562 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0008 | 1 | 80 | 0.0125 | 24 | c.61+ others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ10_chr1_160032467_160075160 | 160049679 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 408 | 0.0025 | 24 | c.1-7 others(37): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
KCNJ10_chr1_160032467_160075160 | 160049683 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0214 | 1 | 408 | 0.0025 | 24 | c.1-7 others(37): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
KCNJ14_chr19_48450574_48471980 | 48471166 | T | TTGTGTGT others(17): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG02258.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0076a0001c0001t0001g0078a0001c0001t0004g0065others(3): Show | 6 | 392 | 0.0153 | 24 | c.*63 others(35): Show |
KCNJ14 | ENSG00000182324.7 | transcript | ENST00000342291.3 | protein_coding | 4187 | chr19 | TogoVar | ||||||
KCNJ15_chr21_38251991_38312357 | 38256360 | T | TTATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02735.hp2 NA19070.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0045a0002c0002t0006 | a0001c0001t0011g0009a0001c0001t0045g0054a0002c0002t0006g0047 | 3 | 406 | 0.0074 | 24 | c.-94 others(33): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 630 | chr21 | TogoVar | ||||||
KCNJ15_chr21_38251991_38312357 | 38290995 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0035 | a0001c0003t0035g0185 | 1 | 406 | 0.0025 | 24 | c.-11 others(43): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
KCNJ3_chr2_154693695_154863354 | 154724917 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01884.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0160a0001c0001t0002g0019a0001c0001t0002g0161others(5): Show | 8 | 284 | 0.0282 | 24 | c.919 others(43): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNJ3_chr2_154693695_154863354 | 154735069 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02572.hp1 NA19060.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0160a0001c0001t0006g0159a0001c0001t0008g0249others(1): Show | 4 | 284 | 0.0141 | 24 | c.919 others(43): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNJ3_chr2_154693695_154863354 | 154779532 | G | GTTATATA others(17): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03017.hp1 HG03704.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0024a0001c0001t0045a0001c0003t0008 | a0001c0001t0024g0053a0001c0001t0045g0204a0001c0003t0008g0004 | 3 | 284 | 0.0106 | 24 | c.919 others(43): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |