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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNQ2_chr20_63395208_63477655 | 63445726 | G | GCCCTGTC others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(91): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0001c0005others(8): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0022others(39): Show | a0001c0002t0002g0047a0001c0002t0002g0082a0001c0002t0002g0136others(88): Show | 94 | 330 | 0.2849 | 19 | c.388 others(34): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63445736 | A | AGCTGGGA others(12): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03927.hp2 |
a0001 | a0001c0008a0001c0028 | a0001c0008t0007a0001c0028t0091 | a0001c0008t0007g0048a0001c0028t0091g0024 | 2 | 330 | 0.0061 | 19 | c.388 others(34): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63445802 | G | GCCCTGAC others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0001 | a0002c0001t0076 | a0002c0001t0076g0220 | 1 | 330 | 0.0030 | 19 | c.388 others(34): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63445821 | A | ACCCTGTC others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(174): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0005others(14): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(73): Show | a0001c0002t0002g0047a0001c0002t0002g0082a0001c0002t0002g0108others(171): Show | 177 | 330 | 0.5364 | 19 | c.388 others(34): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63445954 | G | GCCCTGTC others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG00741.hp1 others(20): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0015a0001c0002t0024a0001c0002t0070others(9): Show | a0001c0002t0015g0003a0001c0002t0015g0107a0001c0002t0024g0110others(19): Show | 23 | 330 | 0.0697 | 19 | c.388 others(34): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132154193 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014a0001c0001t0043 | a0001c0001t0012g0079a0001c0001t0014g0113a0001c0001t0043g0034 | 3 | 176 | 0.0171 | 19 | c.126 others(38): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 9/14 | chr8 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132224081 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0007 | a0001c0007t0059 | a0001c0007t0059g0057 | 1 | 176 | 0.0057 | 19 | c.387 others(38): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132272859 | T | TTCACCAA others(12): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0004 | a0003c0004t0013 | a0003c0004t0013g0072 | 1 | 176 | 0.0057 | 19 | c.387 others(38): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03139.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0043a0001c0001t0058others(1): Show | a0001c0001t0022g0084a0001c0001t0043g0034a0001c0001t0058g0065others(1): Show | 4 | 176 | 0.0227 | 19 | c.386 others(38): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132448502 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0068 | 1 | 176 | 0.0057 | 19 | c.386 others(38): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNS3_chr2_17873667_17937958 | 17884304 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 384 | 0.0026 | 19 | c.-25 others(38): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135727143 | T | TACCTCTC others(12): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0175 | 1 | 272 | 0.0037 | 19 | c.254 others(38): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | chr9 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 136 | 0.0074 | 19 | c.269 others(38): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 136 | 0.0074 | 19 | c.269 others(38): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196334487 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01891.hp2 HG02109.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0036others(24): Show | 27 | 136 | 0.1985 | 19 | c.178 others(36): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196509788 | G | GACAATGA others(12): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 136 | 0.0074 | 19 | c.96- others(36): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196561675 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02451.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0039others(2): Show | 5 | 136 | 0.0368 | 19 | c.95+ others(36): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
KCP_chr7_128871865_128915709 | 128908251 | G | GAGAAAGA others(12): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03041.hp1 HG03195.hp2 |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0045a0006c0006t0002g0046a0006c0006t0002g0047 | 3 | 372 | 0.0081 | 19 | c.219 others(34): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 2/39 | chr7 | TogoVar | ||||||
KCTD15_chr19_33791870_33820761 | 33816579 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(67): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0009others(51): Show | 70 | 370 | 0.1892 | 19 | c.*36 others(30): Show |
KCTD15 | ENSG00000153885.15 | transcript | ENST00000683859.1 | protein_coding | 819 | chr19 | TogoVar | ||||||
KCTD19_chr16_67284432_67331741 | 67331069 | A | AGAGAGAG others(12): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0204 | 1 | 232 | 0.0043 | 19 | c.-43 others(30): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 4329 | chr16 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAAAT others(12): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 352 | 0.0028 | 19 | c.*25 others(30): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | ||||||
KCTD5_chr16_2677523_2714030 | 2678197 | T | TAGGAGAG others(12): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00738.hp1 others(53): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0054a0001c0001t0001g0055others(43): Show | 56 | 414 | 0.1353 | 19 | c.-43 others(30): Show |
KCTD5 | ENSG00000167977.9 | transcript | ENST00000301738.9 | protein_coding | 4325 | chr16 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44317228 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0186 | 2 | 294 | 0.0068 | 19 | c.961 others(40): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44351384 | G | GTGCATTA others(12): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 294 | 0.0034 | 19 | c.961 others(38): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KDM1A_chr1_23014468_23088689 | 23042440 | A | ATTATTAT others(12): Show |
intron_variant | MODIFIER | HG02258.hp2 HG04115.hp2 NA18972.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0117a0001c0001t0003g0099a0001c0001t0003g0107others(1): Show | 4 | 352 | 0.0114 | 19 | c.518 others(36): 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(12): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0095 | 1 | 352 | 0.0028 | 19 | c.518 others(36): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18208628 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0339 | 1 | 392 | 0.0026 | 19 | c.186 others(36): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | chr6 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18208628 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG01981.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0001c0002t0008a0002c0006t0002 | a0001c0002t0001g0314a0001c0002t0001g0359a0001c0002t0008g0360others(4): Show | 7 | 392 | 0.0179 | 19 | c.186 others(36): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | chr6 | TogoVar | ||||||
KDM4A_chr1_43645149_43710518 | 43647351 | A | AAAAAATC others(12): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 370 | 0.0027 | 19 | c.-29 others(30): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 2797 | chr1 | TogoVar | ||||||
KDM4A_chr1_43645149_43710518 | 43649226 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 370 | 0.0027 | 19 | c.-10 others(30): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 922 | chr1 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5060433 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0247 | 1 | 270 | 0.0037 | 19 | c.627 others(38): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6889211 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0076 | 1 | 266 | 0.0038 | 19 | c.783 others(36): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 7/21 | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6919247 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 HG02165.hp1 others(19): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0027others(11): Show | a0001c0001t0002a0001c0002t0002a0001c0027t0015others(12): Show | a0001c0001t0002g0111a0001c0002t0002g0131a0001c0027t0015g0261others(19): Show | 22 | 266 | 0.0827 | 19 | c.921 others(38): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6926341 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 266 | 0.0038 | 19 | c.921 others(38): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6983613 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 266 | 0.0038 | 19 | c.111 others(36): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 9/21 | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7116414 | G | GAGGTTAT others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(142): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0027a0002c0003others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(56): Show | a0001c0001t0001g0021a0001c0001t0001g0025a0001c0001t0001g0041others(142): Show | 145 | 266 | 0.5451 | 19 | c.261 others(40): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM5A_chr12_275057_394320 | 289907 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18978.hp1 NA18981.hp2 others(7): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0003a0002c0002t0005a0002c0002t0006others(2): Show | a0002c0002t0003g0199a0002c0002t0003g0202a0002c0002t0005g0323others(7): Show | 10 | 350 | 0.0286 | 19 | c.486 others(38): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 27/27 | chr12 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 357827 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0305 | 1 | 350 | 0.0029 | 19 | c.673 others(36): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 5/27 | chr12 | TogoVar | ||||||
KDM8_chr16_27198526_27226768 | 27199700 | A | ATTTAAAT others(12): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 402 | 0.0025 | 19 | c.-39 others(30): Show |
KDM8 | ENSG00000155666.12 | transcript | ENST00000286096.9 | protein_coding | 3825 | chr16 | TogoVar | ||||||
KEL_chr7_142936114_142967363 | 142948914 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 253 | 0.0040 | 19 | c.120 others(38): Show |
KEL | ENSG00000197993.9 | transcript | ENST00000355265.7 | protein_coding | 10/18 | chr7 | TogoVar | ||||||
KHDRBS3_chr8_135452456_135652610 | 135515365 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01255.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0140 | 2 | 342 | 0.0059 | 19 | c.89- others(34): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KHSRP_chr19_6408102_6429811 | 6414368 | C | CGGAGGGC others(12): Show |
3_prime_UTR_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0065 | 1 | 386 | 0.0026 | 19 | c.*63 others(28): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 19/19 | 655 | chr19 | TogoVar | |||||
KIAA0319_chr6_24539107_24651191 | 24597917 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0035 | 1 | 300 | 0.0033 | 19 | c.56- others(34): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 2/20 | chr6 | TogoVar | ||||||
KIAA0319_chr6_24539107_24651191 | 24648659 | G | GAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 NA19240.hp1 |
a0004 | a0004c0005 | a0004c0005t0030a0004c0005t0051 | a0004c0005t0030g0007a0004c0005t0051g0046 | 2 | 300 | 0.0067 | 19 | c.-30 others(30): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 2469 | chr6 | TogoVar | ||||||
KIAA0753_chr17_6573147_6645711 | 6584160 | C | CCAACCTC others(12): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0200 | 1 | 370 | 0.0027 | 19 | c.278 others(38): Show |
KIAA0753 | ENSG00000198920.11 | transcript | ENST00000361413.8 | protein_coding | 18/18 | chr17 | TogoVar | ||||||
KIAA0753_chr17_6573147_6645711 | 6591047 | G | GGAAGAAG others(12): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0228 | 1 | 370 | 0.0027 | 19 | c.244 others(36): Show |
KIAA0753 | ENSG00000198920.11 | transcript | ENST00000361413.8 | protein_coding | 16/18 | chr17 | TogoVar | ||||||
KIAA0825_chr5_94145851_94623604 | 94152856 | T | TATATATA others(12): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0005 | 1 | 54 | 0.0185 | 19 | c.*11 others(30): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 21/21 | 1150 | chr5 | TogoVar | |||||
KIAA1210_chrX_119073635_119132812 | 119125735 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02602.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0016g0071 | 3 | 261 | 0.0115 | 19 | c.-11 others(36): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | ||||||
KIAA1210_chrX_119073635_119132812 | 119125736 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00642.hp1 others(12): Show |
a0001a0002a0005others(5): Show | a0001c0001a0002c0002a0005c0006others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(7): Show | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0001g0191others(12): Show | 15 | 261 | 0.0575 | 19 | c.-11 others(36): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24422901 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18980.hp1 NA19068.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0002a0001c0005t0002a0001c0008t0002others(1): Show | a0001c0001t0002g0212a0001c0005t0002g0080a0001c0008t0002g0214others(1): Show | 4 | 240 | 0.0167 | 19 | c.554 others(38): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |