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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNQ3_chr8_132115861_132486095 | 132228967 | T | TTCTGGAG others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02809.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0074a0001c0001t0083others(1): Show | a0001c0001t0004g0061a0001c0001t0074g0085a0001c0001t0083g0104others(1): Show | 4 | 176 | 0.0227 | 9 | c.387 others(28): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132357007 | T | TAACAACA others(2): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0057 | a0001c0001t0024g0077a0001c0001t0057g0058 | 2 | 176 | 0.0114 | 9 | c.386 others(30): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72736502 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG02015.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0006a0001c0001t0003g0011a0001c0001t0003g0015others(28): Show | 31 | 80 | 0.3875 | 9 | c.398 others(30): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 72746217 | T | TATTTGCA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01071.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0006a0001c0001t0003g0067a0001c0001t0003g0069others(25): Show | 28 | 80 | 0.3500 | 9 | c.398 others(30): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNRG_chr13_50010444_50025922 | 50014344 | A | AAATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 NA18941.hp2 NA18949.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(1): Show | 9 | 448 | 0.0201 | 9 | c.-11 others(20): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1099 | chr13 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50014344 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 NA18990.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006 | 3 | 448 | 0.0067 | 9 | c.-11 others(20): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1099 | chr13 | TogoVar | ||||||
KCNS3_chr2_17873667_17937958 | 17893940 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG02071.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0001others(2): Show | a0001c0001t0002g0072a0001c0001t0002g0079a0001c0001t0002g0080others(6): Show | 9 | 384 | 0.0234 | 9 | c.-25 others(30): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135730990 | T | TGAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG02074.hp2 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(6): Show | a0001c0001t0001g0183a0001c0001t0001g0221a0001c0001t0001g0233others(10): Show | 13 | 272 | 0.0478 | 9 | c.254 others(28): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135768238 | T | TGTGGGGG others(2): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18964.hp2 NA18970.hp1 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0127a0001c0003t0001g0180a0001c0003t0001g0210others(1): Show | 4 | 272 | 0.0147 | 9 | c.133 others(26): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT2_chr1_196220779_196613440 | 196326598 | G | GTACCATA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02818.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(2): Show | 5 | 136 | 0.0368 | 9 | c.227 others(26): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | TogoVar | ||||||
KCTD10_chr12_109443655_109482300 | 109452845 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG02630.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007a0001c0002t0021others(1): Show | a0001c0002t0002g0164a0001c0002t0002g0168a0001c0002t0007g0018others(4): Show | 11 | 378 | 0.0291 | 9 | c.724 others(26): Show |
KCTD10 | ENSG00000110906.13 | transcript | ENST00000228495.11 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
KCTD12_chr13_76875175_76891405 | 76886270 | G | GCCGCCGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01256.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0056 | a0001c0001t0055g0000a0001c0001t0056g0000 | 4 | 468 | 0.0086 | 9 | c.-13 others(18): Show |
KCTD12 | ENSG00000178695.6 | transcript | ENST00000377474.4 | protein_coding | 1/1 | 123 | chr13 | TogoVar | |||||
KCTD16_chr5_144165873_144490686 | 144442860 | G | GTACTAGG others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01934.hp1 HG02132.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0012a0001c0001t0018others(15): Show | a0001c0001t0007g0075a0001c0001t0007g0076a0001c0001t0007g0077others(20): Show | 23 | 156 | 0.1474 | 9 | c.833 others(28): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCTD18_chr2_200483958_200515068 | 200489722 | T | TACCTAAG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(1): Show |
a0003 | a0003c0003a0003c0015 | a0003c0003t0010a0003c0015t0010 | a0003c0003t0010g0037a0003c0003t0010g0115a0003c0015t0010g0121 | 4 | 442 | 0.0091 | 9 | c.*36 others(18): Show |
KCTD18 | ENSG00000155729.13 | transcript | ENST00000359878.8 | protein_coding | 7/7 | 377 | chr2 | TogoVar | |||||
KCTD19_chr16_67284432_67331741 | 67319688 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0216a0002c0003t0001g0002a0002c0003t0001g0022others(6): Show | 10 | 232 | 0.0431 | 9 | c.300 others(24): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 2/15 | chr16 | TogoVar | ||||||
KCTD19_chr16_67284432_67331741 | 67331069 | A | AGAGAGAG others(2): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189a0001c0002t0001g0214 | 2 | 232 | 0.0086 | 9 | c.-43 others(20): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 4329 | chr16 | TogoVar | ||||||
KCTD1_chr18_26449910_26553553 | 26453072 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG01943.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0161a0001c0001t0001g0187a0001c0001t0001g0191others(15): Show | 18 | 338 | 0.0533 | 9 | c.*26 others(20): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1837 | chr18 | TogoVar | ||||||
KCTD1_chr18_26449910_26553553 | 26473563 | T | TTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG00738.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(4): Show | a0001c0001t0001g0111a0001c0001t0001g0148a0001c0001t0001g0152others(20): Show | 23 | 338 | 0.0681 | 9 | c.213 others(28): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 3/4 | chr18 | TogoVar | ||||||
KCTD20_chr6_36438000_36496141 | 36478094 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02258.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0012a0002c0002t0002others(5): Show | a0001c0001t0008g0165a0001c0001t0012g0220a0002c0002t0002g0026others(10): Show | 13 | 366 | 0.0355 | 9 | c.435 others(26): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCTD20_chr6_36438000_36496141 | 36478101 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(105): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0004others(7): Show | a0001c0001t0003g0179a0001c0001t0003g0195a0002c0002t0002g0001others(99): Show | 108 | 366 | 0.2951 | 9 | c.435 others(26): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCTD21_chr11_78166249_78193626 | 78176828 | T | TACAACAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(56): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0050a0001c0001t0001g0051others(36): Show | 59 | 430 | 0.1372 | 9 | c.-29 others(26): Show |
KCTD21 | ENSG00000188997.8 | transcript | ENST00000340067.4 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
KCTD2_chr17_75042225_75070886 | 75053858 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0131a0001c0001t0003g0132a0001c0001t0004g0058others(3): Show | 6 | 408 | 0.0147 | 9 | c.540 others(24): Show |
KCTD2 | ENSG00000180901.11 | transcript | ENST00000322444.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KCTD8_chr4_44168903_44453809 | 44317228 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01070.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0022a0001c0001t0001g0030a0001c0001t0001g0072others(21): Show | 24 | 294 | 0.0816 | 9 | c.961 others(30): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KDELR3_chr22_38463096_38488447 | 38478629 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp2 others(80): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(52): Show | 83 | 404 | 0.2055 | 9 | c.193 others(24): Show |
KDELR3 | ENSG00000100196.11 | transcript | ENST00000216014.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KDM1A_chr1_23014468_23088689 | 23042435 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004 | a0001c0001t0001g0240a0001c0001t0001g0242a0001c0001t0001g0251others(19): Show | 27 | 352 | 0.0767 | 9 | c.518 others(26): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KDM1A_chr1_23014468_23088689 | 23042440 | A | ATTATTAT others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG02976.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0269a0001c0001t0001g0289others(6): Show | 9 | 352 | 0.0256 | 9 | c.518 others(26): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18184736 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01109.hp2 others(16): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0008 | a0001c0002t0012a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0002t0012g0361a0001c0003t0001g0088a0001c0003t0001g0091others(16): Show | 19 | 392 | 0.0485 | 9 | c.535 others(26): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM2A_chr11_67114263_67263082 | 67168582 | T | TAATACAC others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02165.hp1 HG02300.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0026a0001c0001t0001g0063a0001c0001t0001g0177others(2): Show | 5 | 220 | 0.0227 | 9 | c.43- others(26): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KDM2A_chr11_67114263_67263082 | 67169759 | C | CTCTCTCT others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00639.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0021a0001c0001t0001g0023a0001c0001t0001g0031others(11): Show | 14 | 220 | 0.0636 | 9 | c.43- others(26): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KDM2A_chr11_67114263_67263082 | 67214207 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0057a0001c0001t0001g0068a0001c0001t0001g0069others(3): Show | 6 | 220 | 0.0273 | 9 | c.487 others(26): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KDM2A_chr11_67114263_67263082 | 67247072 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01981.hp1 HG02165.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0043a0001c0002t0001g0046a0001c0002t0001g0054others(2): Show | 5 | 220 | 0.0227 | 9 | c.196 others(26): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 15/20 | chr11 | TogoVar | ||||||
KDM4A_chr1_43645149_43710518 | 43649226 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02559.hp2 HG03471.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0030a0001c0001t0001g0031others(8): Show | 11 | 370 | 0.0297 | 9 | c.-10 others(20): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 922 | chr1 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5060433 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01256.hp1 HG01258.hp1 others(10): Show |
a0001a0002a0021 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0004a0002c0005t0002others(2): Show | a0001c0001t0001g0202a0001c0001t0001g0208a0001c0001t0001g0209others(10): Show | 13 | 270 | 0.0482 | 9 | c.627 others(28): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6944652 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(28): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0002c0003others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(17): Show | a0001c0001t0002g0111a0001c0001t0004g0207a0001c0002t0002g0217others(28): Show | 31 | 266 | 0.1165 | 9 | c.922 others(28): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM5A_chr12_275057_394320 | 357827 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01516.hp1 others(12): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0142a0001c0001t0001g0145a0001c0001t0001g0152others(12): Show | 15 | 350 | 0.0429 | 9 | c.673 others(26): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 5/27 | chr12 | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44922027 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181a0001c0001t0001g0182 | 2 | 199 | 0.0101 | 9 | c.226 others(28): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44922064 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 199 | 0.0050 | 9 | c.226 others(28): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 45002869 | C | CCCCCCCC others(2): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0037 | 1 | 199 | 0.0050 | 9 | c.385 others(26): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 45046981 | A | ATGGTGGT others(2): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0170 | 1 | 199 | 0.0050 | 9 | c.655 others(26): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7846859 | T | TACCACCA others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(34): Show |
a0003a0011a0019others(5): Show | a0003c0007a0003c0011a0011c0010others(7): Show | a0003c0007t0002a0003c0007t0004a0003c0007t0008others(10): Show | a0003c0007t0002g0012a0003c0007t0002g0024a0003c0007t0002g0162others(31): Show | 37 | 388 | 0.0954 | 9 | c.783 others(16): Show |
p.Pro others(13): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 10/24 | 1313/6728 | 792/4932 | 264/1643 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
KDSR_chr18_63322726_63372206 | 63324508 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01952.hp2 HG01978.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006a0001c0002t0007others(3): Show | a0001c0002t0003g0001a0001c0002t0003g0008a0001c0002t0003g0044others(16): Show | 25 | 406 | 0.0616 | 9 | c.*72 others(20): Show |
KDSR | ENSG00000119537.18 | transcript | ENST00000645214.2 | protein_coding | 3217 | chr18 | TogoVar | ||||||
KERA_chr12_91045491_91063024 | 91054033 | C | CTCTTAAC others(2): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02293.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 3 | 408 | 0.0074 | 9 | c.886 others(26): Show |
KERA | ENSG00000139330.6 | transcript | ENST00000266719.4 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61818266 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0007a0001c0003t0003 | a0001c0001t0004g0182a0001c0002t0007g0212a0001c0003t0003g0025others(3): Show | 6 | 244 | 0.0246 | 9 | c.810 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61843341 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02622.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0003a0001c0003t0010 | a0001c0001t0017g0218a0001c0003t0003g0033a0001c0003t0003g0034others(6): Show | 9 | 244 | 0.0369 | 9 | c.810 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61857590 | T | TAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(135): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(26): Show | a0001c0001t0002g0064a0001c0001t0002g0066a0001c0001t0002g0088others(135): Show | 138 | 244 | 0.5656 | 9 | c.810 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61947913 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02738.hp2 HG04199.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0003a0001c0003t0010 | a0001c0001t0005g0012a0001c0003t0003g0028a0001c0003t0010g0002 | 3 | 244 | 0.0123 | 9 | c.483 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61948654 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02080.hp1 HG02895.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0002others(4): Show | a0001c0001t0001g0043a0001c0001t0001g0087a0001c0001t0001g0090others(18): Show | 21 | 244 | 0.0861 | 9 | c.483 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61956904 | T | TTCATCAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(50): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0012others(15): Show | a0001c0001t0005g0024a0001c0001t0006g0244a0001c0001t0012g0023others(50): Show | 53 | 244 | 0.2172 | 9 | c.483 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61983198 | C | CGTTTTCT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01099.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0008a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0008g0220a0001c0002t0002g0168a0001c0002t0003g0136others(19): Show | 22 | 244 | 0.0902 | 9 | c.337 others(26): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61983199 | A | ATTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02155.hp2 NA19007.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0132a0001c0004t0001g0135a0001c0004t0001g0149others(1): Show | 4 | 244 | 0.0164 | 9 | c.337 others(26): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 3/8 | chr6 | TogoVar |