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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCP_chr7_128871865_128915709 | 128908251 | G | GAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18953.hp2 NA19240.hp1 |
a0004a0005a0050 | a0004c0004a0005c0005a0050c0061 | a0004c0004t0002a0005c0005t0001a0050c0061t0002 | a0004c0004t0002g0323a0005c0005t0001g0131a0050c0061t0002g0152 | 3 | 372 | 0.0081 | 32 | c.219 others(47): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 2/39 | chr7 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144452146 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0061 | a0001c0001t0007g0076a0001c0001t0007g0077a0001c0001t0061g0006 | 3 | 156 | 0.0192 | 32 | c.833 others(51): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCTD20_chr6_36438000_36496141 | 36448015 | G | GTGTATGT others(25): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02622.hp1 HG02896.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0009a0002c0002t0016 | a0002c0002t0002g0029a0002c0002t0009g0032a0002c0002t0016g0309others(1): Show | 4 | 366 | 0.0109 | 32 | c.-47 others(49): 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(25): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0189 | 1 | 408 | 0.0025 | 32 | c.763 others(47): Show |
KCTD2 | ENSG00000180901.11 | transcript | ENST00000322444.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 352 | 0.0028 | 32 | c.*25 others(43): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 352 | 0.0028 | 32 | c.*25 others(43): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAATA others(25): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 352 | 0.0028 | 32 | c.*25 others(43): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191255 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 352 | 0.0028 | 32 | c.*25 others(43): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1597 | chr13 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44235578 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 294 | 0.0034 | 32 | c.962 others(51): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44272121 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 294 | 0.0034 | 32 | c.962 others(51): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44317228 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03710.hp2 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0040a0001c0001t0001g0046 | 3 | 294 | 0.0102 | 32 | c.961 others(53): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18208627 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0390 | 1 | 392 | 0.0026 | 32 | c.186 others(49): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM2A_chr11_67114263_67263082 | 67152399 | T | TTGAGACC others(25): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0101 | 2 | 220 | 0.0091 | 32 | c.43- others(49): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KDM2B_chr12_121424096_121586023 | 121480184 | C | CCCAGATT others(25): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02818.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0261a0001c0001t0004g0076a0001c0001t0004g0209others(1): Show | 4 | 270 | 0.0148 | 32 | c.173 others(53): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 12/22 | chr12 | TogoVar | ||||||
KDM4A_chr1_43645149_43710518 | 43649226 | C | CTTTTTTT others(25): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 370 | 0.0027 | 32 | c.-10 others(43): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 922 | chr1 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5035880 | T | TGTGTGTG others(25): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0057 | 1 | 270 | 0.0037 | 32 | c.141 others(49): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6919218 | T | TTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02886.hp1 |
a0003 | a0003c0007a0003c0063 | a0003c0007t0001a0003c0063t0001 | a0003c0007t0001g0147a0003c0063t0001g0027 | 2 | 266 | 0.0075 | 32 | c.921 others(51): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6919247 | T | TTTCTTTC others(25): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01978.hp2 HG02486.hp1 others(1): Show |
a0001a0003 | a0001c0002a0003c0004a0003c0007 | a0001c0002t0002a0003c0004t0017a0003c0007t0001 | a0001c0002t0002g0144a0001c0002t0002g0148a0003c0004t0017g0109others(1): Show | 4 | 266 | 0.0150 | 32 | c.921 others(51): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 44963499 | C | CTGTCTGT others(25): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02015.hp1 HG02074.hp1 others(4): Show |
a0002 | a0002c0002a0002c0009a0002c0013 | a0002c0002t0001a0002c0009t0001a0002c0013t0001 | a0002c0002t0001g0131a0002c0002t0001g0147a0002c0002t0001g0148others(4): Show | 7 | 199 | 0.0352 | 32 | c.334 others(49): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM8_chr16_27198526_27226768 | 27225846 | C | CTGTTTGT others(25): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 402 | 0.0025 | 32 | c.*51 others(43): Show |
KDM8 | ENSG00000155666.12 | transcript | ENST00000286096.9 | protein_coding | 4079 | chr16 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61993650 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0143 | 1 | 244 | 0.0041 | 32 | c.337 others(51): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 62169200 | T | TGTATATA others(25): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0181 | 1 | 244 | 0.0041 | 32 | c.219 others(49): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
KHDRBS3_chr8_135452456_135652610 | 135481223 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG03486.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256a0001c0001t0002g0330 | 2 | 342 | 0.0059 | 32 | c.88+ others(49): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KHDRBS3_chr8_135452456_135652610 | 135485842 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG01243.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0236a0001c0001t0001g0247a0001c0001t0002g0191others(4): Show | 7 | 342 | 0.0205 | 32 | c.88+ others(49): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KHDRBS3_chr8_135452456_135652610 | 135630482 | A | AATGTATG others(25): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02004.hp2 NA19060.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(1): Show | 4 | 342 | 0.0117 | 32 | c.891 others(51): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KIAA0040_chr1_175151986_175197776 | 175194112 | G | GTTATTTA others(25): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 NA18944.hp1 |
a0003 | a0003c0003 | a0003c0003t0015a0003c0003t0016 | a0003c0003t0015g0017a0003c0003t0016g0097 | 2 | 394 | 0.0051 | 32 | c.-18 others(43): Show |
KIAA0040 | ENSG00000235750.10 | transcript | ENST00000423313.6 | protein_coding | 1337 | chr1 | TogoVar | ||||||
KIAA0319_chr6_24539107_24651191 | 24553270 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0033 | a0001c0033t0060 | a0001c0033t0060g0091 | 1 | 300 | 0.0033 | 32 | c.294 others(51): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 19/20 | chr6 | TogoVar | ||||||
KIAA0319_chr6_24539107_24651191 | 24579412 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03195.hp1 HG03486.hp2 |
a0007a0012a0023 | a0007c0011a0012c0017a0023c0016 | a0007c0011t0023a0012c0017t0078a0023c0016t0055 | a0007c0011t0023g0016a0012c0017t0078g0148a0023c0016t0055g0052 | 3 | 300 | 0.0100 | 32 | c.137 others(49): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 8/20 | chr6 | TogoVar | ||||||
KIAA0586_chr14_58422719_58556297 | 58484890 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0063 | 1 | 300 | 0.0033 | 32 | c.314 others(51): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIAA0586_chr14_58422719_58556297 | 58484890 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01123.hp2 HG01433.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0039a0001c0001t0001g0044others(7): Show | 10 | 300 | 0.0333 | 32 | c.314 others(51): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIAA0586_chr14_58422719_58556297 | 58484924 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 300 | 0.0033 | 32 | c.314 others(51): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIAA0586_chr14_58422719_58556297 | 58484924 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 300 | 0.0033 | 32 | c.314 others(51): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIAA0930_chr22_45187244_45245894 | 45229012 | A | ACTCACCC others(25): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01256.hp1 HG01934.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0014others(6): Show | a0001c0001t0004g0247a0001c0001t0008g0062a0001c0001t0014g0191others(7): Show | 11 | 398 | 0.0276 | 32 | c.64+ others(49): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45229135 | A | ACTCACCT others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0075a0001c0001t0118others(1): Show | a0001c0001t0045g0327a0001c0001t0045g0328a0001c0001t0075g0324others(2): Show | 5 | 398 | 0.0126 | 32 | c.64+ others(49): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
KIAA1210_chrX_119073635_119132812 | 119125735 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0011 | a0011c0013 | a0011c0013t0015 | a0011c0013t0015g0040 | 1 | 261 | 0.0038 | 32 | c.-11 others(49): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24354738 | C | CTCTGCTC others(25): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(43): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(37): Show | a0001c0001t0001g0036a0001c0001t0001g0217a0001c0001t0002g0007others(43): Show | 46 | 240 | 0.1917 | 32 | c.355 others(51): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24390478 | A | AGGGAGGG others(25): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0042 | a0001c0042t0003 | a0001c0042t0003g0133 | 1 | 240 | 0.0042 | 32 | c.553 others(49): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24457360 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0067 | a0001c0067t0002 | a0001c0067t0002g0027 | 1 | 240 | 0.0042 | 32 | c.847 others(51): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24520651 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0162 | 1 | 240 | 0.0042 | 32 | c.230 others(49): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24520675 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0200 | 1 | 240 | 0.0042 | 32 | c.230 others(49): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1328_chr18_36824127_37230334 | 36883952 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01515.hp2 HG01517.hp2 others(5): Show |
a0001a0006 | a0001c0002a0001c0007a0006c0011 | a0001c0002t0001a0001c0002t0011a0001c0007t0005others(1): Show | a0001c0002t0001g0060a0001c0002t0001g0061a0001c0002t0001g0082others(5): Show | 8 | 200 | 0.0400 | 32 | c.333 others(49): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIAA1328_chr18_36824127_37230334 | 36883952 | G | GTATATGT others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01071.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0174a0001c0003t0004g0178a0001c0003t0004g0183others(1): Show | 4 | 200 | 0.0200 | 32 | c.333 others(49): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33430041 | T | TCCTTCCT others(25): Show |
intron_variant | MODIFIER | HG02559.hp1 NA19240.hp2 |
a0001 | a0001c0013a0001c0020 | a0001c0013t0002a0001c0020t0003 | a0001c0013t0002g0138a0001c0020t0003g0069 | 2 | 226 | 0.0089 | 32 | c.238 others(51): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33435818 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01943.hp2 HG02129.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0019 | a0001c0001t0002a0001c0004t0006a0001c0004t0015others(3): Show | a0001c0001t0002g0183a0001c0004t0006g0015a0001c0004t0015g0119others(4): Show | 7 | 226 | 0.0310 | 32 | c.238 others(51): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33435818 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18747.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0018 | a0001c0003t0002g0173a0001c0004t0018g0220 | 2 | 226 | 0.0089 | 32 | c.238 others(51): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1671_chr22_24947716_25202448 | 24986630 | A | ACCACCCA others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0083 | a0001c0083t0002 | a0001c0083t0002g0098 | 1 | 254 | 0.0039 | 32 | c.-20 others(53): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KIAA1671_chr22_24947716_25202448 | 25046399 | G | GATCCCTT others(25): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02451.hp2 others(19): Show |
a0001a0002a0004others(8): Show | a0001c0005a0001c0030a0001c0031others(15): Show | a0001c0005t0004a0001c0030t0021a0001c0031t0005others(16): Show | a0001c0005t0004g0012a0001c0005t0004g0020a0001c0030t0021g0166others(19): Show | 22 | 254 | 0.0866 | 32 | c.439 others(51): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KIAA1671_chr22_24947716_25202448 | 25093737 | A | ACACACAC others(25): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0073 | a0001c0073t0022 | a0001c0073t0022g0226 | 1 | 254 | 0.0039 | 32 | c.453 others(53): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KIAA1671_chr22_24947716_25202448 | 25093830 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0125 | 1 | 254 | 0.0039 | 32 | c.453 others(53): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KIAA2012_chr2_202068255_202210188 | 202133130 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0014 | a0014c0018 | a0014c0018t0001 | a0014c0018t0001g0154 | 1 | 312 | 0.0032 | 32 | c.183 others(51): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |