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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNH8_chr3_19143510_19540642 | 19513963 | T | TAACAGCT others(18): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01934.hp1 HG02055.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0003t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0018others(6): Show | 9 | 134 | 0.0672 | 25 | c.243 others(42): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19513976 | A | ATAATAAA others(18): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 134 | 0.0075 | 25 | c.243 others(42): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNIP1_chr5_170499020_170741632 | 170568648 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 218 | 0.0046 | 25 | c.61+ others(42): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNIP1_chr5_170499020_170741632 | 170589794 | T | TGTGCGGT others(18): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 218 | 0.0046 | 25 | c.61+ others(42): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNIP1_chr5_170499020_170741632 | 170676173 | G | GAAGGAAA others(18): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01243.hp2 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0173a0001c0001t0002g0217a0001c0001t0004g0046 | 3 | 218 | 0.0138 | 25 | c.62- others(42): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNIP4_chr4_20723606_21953772 | 21125188 | C | CTTATTTT others(18): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0035a0001c0001t0004g0041a0001c0001t0007g0046 | 3 | 80 | 0.0375 | 25 | c.62- others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21147939 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01433.hp2 HG02145.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0040a0001c0002t0001g0065a0001c0002t0004g0028 | 3 | 80 | 0.0375 | 25 | c.62- others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21147956 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG03516.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0012a0001c0002t0001a0001c0003t0003 | a0001c0001t0012g0045a0001c0002t0001g0073a0001c0003t0003g0029 | 3 | 80 | 0.0375 | 25 | c.62- others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21234077 | C | CATATAAC others(18): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03486.hp2 HG03654.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0056a0001c0002t0001g0009a0001c0002t0001g0055 | 3 | 80 | 0.0375 | 25 | c.62- others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21234476 | G | GTACATAT others(18): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0051 | 2 | 80 | 0.0250 | 25 | c.62- others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21234561 | C | CGTATATA others(18): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 80 | 0.0125 | 25 | c.62- others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21320964 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 80 | 0.0125 | 25 | c.62- others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21504475 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18950.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0051a0001c0001t0002g0035 | 3 | 80 | 0.0375 | 25 | c.61+ others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21582006 | A | AAGAATAG others(18): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0072 | 1 | 80 | 0.0125 | 25 | c.61+ others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21785610 | T | TAAATAAA others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02615.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0001a0001c0001t0003g0002a0001c0001t0003g0030others(2): Show | 5 | 80 | 0.0625 | 25 | c.61+ others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ18_chr17_21687523_21709612 | 21706743 | G | GGCACTGA others(18): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0042 | 1 | 112 | 0.0089 | 25 | c.*26 others(36): Show |
KCNJ18 | ENSG00000260458.3 | transcript | ENST00000567955.3 | protein_coding | 2132 | chr17 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37615244 | C | CTTTTTTT others(18): Show |
3_prime_UTR_variant | MODIFIER | NA19043.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0163a0001c0001t0164 | a0001c0001t0163g0056a0001c0001t0164g0171 | 2 | 198 | 0.0101 | 25 | c.*98 others(36): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 9914 | chr21 | TogoVar | |||||
KCNJ6_chr21_37602373_37921457 | 37661614 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0175 | a0001c0001t0175g0145 | 1 | 198 | 0.0051 | 25 | c.947 others(44): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37712490 | C | CCTCCCTC others(18): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02109.hp2 HG02280.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0021a0001c0001t0022others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0132a0001c0001t0021g0143others(6): Show | 9 | 198 | 0.0455 | 25 | c.946 others(42): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNK10_chr14_88175108_88328269 | 88198892 | C | CTTATTTT others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(67): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0010a0001c0001t0112a0001c0002t0001others(21): Show | a0001c0001t0010g0079a0001c0001t0010g0080a0001c0001t0010g0224others(67): Show | 70 | 334 | 0.2096 | 25 | c.682 others(42): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90143171 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00621.hp2 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0017a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0032others(35): Show | 38 | 320 | 0.1188 | 25 | c.335 others(44): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215177740 | A | ATGTGTAT others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02965.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0015a0001c0002t0072 | a0001c0002t0006g0174a0001c0002t0015g0248a0001c0002t0072g0247 | 3 | 260 | 0.0115 | 25 | c.823 others(42): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215238848 | T | TAAATAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01891.hp2 HG02148.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0142a0001c0001t0001g0156a0001c0001t0001g0157others(23): Show | 26 | 260 | 0.1000 | 25 | c.*37 others(36): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 1759 | chr1 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77173534 | T | TGTAAATA others(18): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 106 | 0.0094 | 25 | c.808 others(42): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 5/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77439087 | A | AAAGAGAA others(18): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0069a0001c0001t0003g0034 | 2 | 106 | 0.0189 | 25 | c.379 others(44): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG03453.hp2 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0026 | 3 | 432 | 0.0069 | 25 | c.-12 others(36): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178691107 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 232 | 0.0043 | 25 | c.-67 others(46): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178758966 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 232 | 0.0043 | 25 | c.-67 others(44): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178759442 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0074 | 1 | 232 | 0.0043 | 25 | c.-67 others(44): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0107 | 1 | 238 | 0.0042 | 25 | c.144 others(44): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63443033 | C | CCATCACA others(18): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18944.hp1 NA18973.hp1 others(3): Show |
a0001a0002 | a0001c0022a0002c0001 | a0001c0022t0010a0002c0001t0001 | a0001c0022t0010g0015a0002c0001t0001g0013a0002c0001t0001g0016others(3): Show | 6 | 330 | 0.0182 | 25 | c.691 others(40): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132283102 | T | TGTGTGTG others(18): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02615.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017a0001c0001t0019others(6): Show | a0001c0001t0004g0075a0001c0001t0004g0096a0001c0001t0017g0139others(7): Show | 10 | 176 | 0.0568 | 25 | c.387 others(44): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0085 | 1 | 176 | 0.0057 | 25 | c.386 others(44): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73024381 | T | TGATAGAT others(18): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0025 | 1 | 80 | 0.0125 | 25 | c.490 others(44): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 73193464 | A | AAAAATAA others(18): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG02083.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0035others(4): Show | a0001c0001t0009g0037a0001c0001t0010g0012a0001c0001t0035g0033others(5): Show | 8 | 80 | 0.1000 | 25 | c.183 others(42): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNRG_chr13_50010444_50025922 | 50014344 | A | AAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | 25 | c.-11 others(36): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1099 | chr13 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135732013 | G | GAGAGAGA others(18): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0092 | 1 | 272 | 0.0037 | 25 | c.254 others(44): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT2_chr1_196220779_196613440 | 196561675 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0020 | 1 | 136 | 0.0074 | 25 | c.95+ others(42): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196584168 | G | GATAAAAT others(18): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(15): Show | 18 | 136 | 0.1324 | 25 | c.95+ others(42): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
KCNV1_chr8_109958636_109980771 | 109963198 | T | TTATAATA others(18): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 372 | 0.0054 | 25 | c.*48 others(36): Show |
KCNV1 | ENSG00000164794.9 | transcript | ENST00000524391.6 | protein_coding | 437 | chr8 | TogoVar | ||||||
KCTD19_chr16_67284432_67331741 | 67325376 | C | CTTTATTT others(18): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03098.hp1 HG03225.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0020a0002c0003t0001g0021a0002c0003t0001g0029 | 3 | 232 | 0.0129 | 25 | c.3+1 others(38): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 1/15 | chr16 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 352 | 0.0028 | 25 | c.*25 others(36): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAATATAT others(18): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 352 | 0.0028 | 25 | c.*25 others(36): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44181176 | T | TGGTCTCC others(18): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 294 | 0.0034 | 25 | c.962 others(42): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44317228 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00621.hp1 NA19085.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0021a0001c0009t0001g0292 | 2 | 294 | 0.0068 | 25 | c.961 others(46): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KDM1A_chr1_23014468_23088689 | 23076426 | G | GAAATCTT others(18): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 352 | 0.0028 | 25 | c.173 others(42): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18208627 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 392 | 0.0026 | 25 | c.186 others(42): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18208628 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02165.hp2 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0003a0002c0006t0002 | a0001c0002t0003g0318a0002c0006t0002g0323 | 2 | 392 | 0.0051 | 25 | c.186 others(42): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | chr6 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67201772 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 220 | 0.0046 | 25 | c.308 others(42): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KDM2B_chr12_121424096_121586023 | 121518556 | A | ATTCCACG others(18): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 270 | 0.0037 | 25 | c.104 others(44): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar |