view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 272 | 0.0037 | 22 | c.254 others(41): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135732024 | A | AGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0153 | 1 | 272 | 0.0037 | 22 | c.254 others(41): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0015 | 1 | 136 | 0.0074 | 22 | c.269 others(41): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0132 | 1 | 136 | 0.0074 | 22 | c.269 others(41): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196334487 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01106.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0002g0007 others(5): Show |
8 | 136 | 0.0588 | 22 | c.178 others(39): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196342424 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 136 | 0.0074 | 22 | c.140 others(39): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196561675 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 136 | 0.0074 | 22 | c.95+ others(39): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196596054 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 136 | 0.0074 | 22 | c.95+ others(39): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196596056 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0097 | 1 | 136 | 0.0074 | 22 | c.95+ others(39): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
KCNV2_chr9_2712510_2735037 | 2722040 | T | TTTATTTA others(15): Show |
intron_variant | MODIFIER | NA18981.hp2 NA18998.hp2 NA19010.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 4 | 442 | 0.0091 | 22 | c.135 others(41): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCP_chr7_128871865_128915709 | 128883446 | C | CTATGTAA others(15): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0058 | a0058c0060 | a0058c0060t0001 | a0058c0060t0001g0241 | 1 | 372 | 0.0027 | 22 | c.324 others(39): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 29/39 | chr7 | TogoVar | |||||||
KCTD16_chr5_144165873_144490686 | 144256795 | T | TTCAGGTA others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01934.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0021others(1): Show | a0001c0001t0003g0030 a0001c0001t0013g0031 a0001c0001t0021g0004 others(1): Show |
4 | 156 | 0.0256 | 22 | c.832 others(41): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144256795 | T | TTTAGGTA others(15): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01192.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0047 a0001c0001t0003g0102 a0001c0001t0007g0075 others(17): Show |
20 | 156 | 0.1282 | 22 | c.832 others(41): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCTD19_chr16_67284432_67331741 | 67314830 | T | TATATAGA others(15): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0185 | 1 | 232 | 0.0043 | 22 | c.300 others(39): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 2/15 | chr16 | TogoVar | |||||||
KCTD19_chr16_67284432_67331741 | 67331069 | A | AAGAGAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217 | 1 | 232 | 0.0043 | 22 | c.-43 others(33): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 4329 | chr16 | TogoVar | |||||||
KCTD20_chr6_36438000_36496141 | 36448015 | G | GTGTATGT others(15): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055 | 1 | 366 | 0.0027 | 22 | c.-47 others(39): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCTD2_chr17_75042225_75070886 | 75062699 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01891.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0077 a0001c0001t0002g0195 a0001c0001t0005g0019 others(3): Show |
9 | 408 | 0.0221 | 22 | c.763 others(37): Show |
KCTD2 | ENSG00000180901.11 | transcript | ENST00000322444.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191222 | A | AATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 352 | 0.0028 | 22 | c.*25 others(33): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1630 | chr13 | TogoVar | |||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 352 | 0.0028 | 22 | c.*25 others(33): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | |||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0002g0026 |
3 | 352 | 0.0085 | 22 | c.*25 others(33): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | |||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAATATA others(15): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 352 | 0.0028 | 22 | c.*25 others(33): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | |||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 352 | 0.0028 | 22 | c.*25 others(33): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44272121 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19043.hp1 NA20300.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0002a0004c0007t0002 | a0001c0001t0002g0133 a0001c0001t0002g0250 a0004c0007t0002g0010 |
3 | 294 | 0.0102 | 22 | c.962 others(41): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44442774 | T | TACACACG others(15): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276 a0001c0001t0002g0277 |
2 | 294 | 0.0068 | 22 | c.961 others(39): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KDELR1_chr19_48377575_48396551 | 48390577 | G | GAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 a0001c0001t0004g0121 |
4 | 432 | 0.0093 | 22 | c.92- others(33): Show |
KDELR1 | ENSG00000105438.9 | transcript | ENST00000330720.7 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
KDM1B_chr6_18150422_18228854 | 18208603 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0007 | a0001c0007t0015 | a0001c0007t0015g0348 | 1 | 392 | 0.0026 | 22 | c.186 others(39): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18208603 | G | GTGTGTAT others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00735.hp1 others(15): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(2): Show | a0001c0003t0001g0090 a0001c0003t0001g0093 a0001c0003t0001g0096 others(15): Show |
18 | 392 | 0.0459 | 22 | c.186 others(39): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18208603 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0133 | 1 | 392 | 0.0026 | 22 | c.186 others(39): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18208627 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0336 | 1 | 392 | 0.0026 | 22 | c.186 others(39): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121478866 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02622.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 a0001c0002t0001g0233 |
2 | 270 | 0.0074 | 22 | c.173 others(43): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 12/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121478866 | T | TTGTTTGT others(15): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 270 | 0.0037 | 22 | c.173 others(43): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 12/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121478866 | T | TTGTTTGT others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02300.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0018 a0001c0001t0001g0102 a0001c0001t0001g0142 others(4): Show |
7 | 270 | 0.0259 | 22 | c.173 others(43): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 12/22 | chr12 | TogoVar | |||||||
KDM4A_chr1_43645149_43710518 | 43684184 | G | GAAACTGG others(15): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 370 | 0.0027 | 22 | c.185 others(39): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5035880 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0020 | 1 | 270 | 0.0037 | 22 | c.141 others(39): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5035880 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 270 | 0.0037 | 22 | c.141 others(39): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6889211 | T | TTTTGTGT others(15): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0028 | a0028c0057 | a0028c0057t0001 | a0028c0057t0001g0213 | 1 | 266 | 0.0038 | 22 | c.783 others(39): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6926341 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02165.hp1 NA18962.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0045 | a0001c0001t0002a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0001t0002g0111 a0002c0003t0001g0095 a0002c0003t0001g0220 others(2): Show |
5 | 266 | 0.0188 | 22 | c.921 others(41): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6983573 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18986.hp2 NA19091.hp1 |
a0001a0005 | a0001c0001a0001c0002a0005c0012 | a0001c0001t0001a0001c0002t0002a0005c0012t0001 | a0001c0001t0001g0066 a0001c0002t0002g0217 a0005c0012t0001g0179 |
3 | 266 | 0.0113 | 22 | c.111 others(39): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7019686 | T | TTATAAAA others(15): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0017 | a0017c0021 | a0017c0021t0001 | a0017c0021t0001g0209 | 1 | 266 | 0.0038 | 22 | c.225 others(41): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7019698 | A | AATATTTT others(15): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0027 | a0027c0041 | a0027c0041t0002 | a0027c0041t0002g0108 | 1 | 266 | 0.0038 | 22 | c.225 others(41): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7019713 | A | AAAAATAT others(15): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02735.hp1 HG03017.hp1 |
a0017a0025a0029 | a0017c0021a0025c0039a0029c0052 | a0017c0021t0001a0025c0039t0001a0029c0052t0002 | a0017c0021t0001g0209 a0025c0039t0001g0040 a0029c0052t0002g0244 |
3 | 266 | 0.0113 | 22 | c.225 others(41): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7052863 | C | CAGAGAGA others(15): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0006 | a0006c0053 | a0006c0053t0001 | a0006c0053t0001g0053 | 1 | 266 | 0.0038 | 22 | c.242 others(41): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 289907 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0026 | 1 | 350 | 0.0029 | 22 | c.486 others(41): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 27/27 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 330085 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03239.hp1 NA20752.hp1 |
a0002 | a0002c0002 | a0002c0002t0016a0002c0002t0054a0002c0002t0055 | a0002c0002t0016g0008 a0002c0002t0054g0114 a0002c0002t0055g0102 |
3 | 350 | 0.0086 | 22 | c.177 others(41): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 13/27 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 330085 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02886.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0044a0002c0004t0009 | a0002c0002t0044g0028 a0002c0004t0009g0254 |
2 | 350 | 0.0057 | 22 | c.177 others(41): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 13/27 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 330085 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | NA18991.hp1 NA21309.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0009a0002c0004t0028 | a0002c0002t0009g0256 a0002c0004t0028g0301 |
2 | 350 | 0.0057 | 22 | c.177 others(41): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 13/27 | chr12 | TogoVar | |||||||
KDM6A_chrX_44868188_45117779 | 44899004 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 199 | 0.0050 | 22 | c.225 others(41): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM7A_chr7_140079746_140181983 | 140100685 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 344 | 0.0029 | 22 | c.163 others(39): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KDSR_chr18_63322726_63372206 | 63361007 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 406 | 0.0025 | 22 | c.199 others(39): Show |
KDSR | ENSG00000119537.18 | transcript | ENST00000645214.2 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61848511 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 244 | 0.0041 | 22 | c.810 others(41): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar |