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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KDM2B_chr12_121424096_121586023 | 121424710 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02015.hp1 others(15): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0003t0006a0001c0003t0007others(2): Show | a0001c0003t0001g0066 a0001c0003t0001g0082 a0001c0003t0001g0083 others(15): Show |
18 | 270 | 0.0667 | -9 | c.*55 others(20): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 4385 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121501697 | TGCAACCT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0001others(1): Show | a0001c0001t0002g0261 a0001c0001t0004g0076 a0001c0001t0004g0209 others(5): Show |
8 | 270 | 0.0296 | -9 | c.164 others(28): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 11/22 | chr12 | TogoVar | |||||||
KDM4C_chr9_6752973_7180648 | 7060454 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG02886.hp1 HG03130.hp2 others(1): Show |
a0001a0003a0021 | a0001c0002a0001c0064a0003c0063others(1): Show | a0001c0002t0001a0001c0064t0001a0003c0063t0001others(1): Show | a0001c0002t0001g0018 a0001c0064t0001g0065 a0003c0063t0001g0027 others(1): Show |
4 | 266 | 0.0150 | -9 | c.242 others(30): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7068686 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG02165.hp1 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0027others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0041 a0001c0001t0001g0168 a0001c0001t0002g0111 others(15): Show |
18 | 266 | 0.0677 | -9 | c.242 others(30): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 326864 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00738.hp2 others(63): Show |
a0002a0016 | a0002c0002a0002c0004a0002c0008others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(9): Show | a0002c0002t0002g0084 a0002c0002t0002g0092 a0002c0002t0003g0179 others(63): Show |
66 | 350 | 0.1886 | -9 | c.196 others(28): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 14/27 | chr12 | TogoVar | |||||||
KDM6A_chrX_44868188_45117779 | 44914491 | AAAGGAAA others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 others(1): Show |
4 | 199 | 0.0201 | -9 | c.225 others(28): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44920850 | ATTTTTTC others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 199 | 0.0050 | -9 | c.226 others(28): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44922057 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 a0001c0001t0002g0101 |
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 | 44932084 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 199 | 0.0050 | -9 | c.226 others(28): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44958604 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 a0001c0001t0002g0121 |
2 | 199 | 0.0101 | -9 | c.226 others(26): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44969411 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 199 | 0.0050 | -9 | c.335 others(26): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44992206 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01884.hp1 others(11): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0004c0006t0003 | a0001c0001t0001g0040 a0001c0001t0001g0165 a0001c0001t0001g0166 others(11): Show |
14 | 199 | 0.0704 | -9 | c.384 others(28): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 45047674 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03486.hp1 NA19240.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0125 a0003c0005t0001g0002 a0003c0005t0001g0003 others(1): Show |
4 | 199 | 0.0201 | -9 | c.655 others(26): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 45074047 | TTGTAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02735.hp1 HG04204.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0050 a0001c0003t0001g0075 |
2 | 199 | 0.0101 | -9 | c.285 others(28): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM7A_chr7_140079746_140181983 | 140081008 | CTGCCTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(139): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0021others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(133): Show |
142 | 344 | 0.4128 | -9 | c.*10 others(22): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 3737 | chr7 | TogoVar | |||||||
KDM7A_chr7_140079746_140181983 | 140167275 | AAGAATAA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp1 others(87): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(82): Show |
90 | 344 | 0.2616 | -9 | c.194 others(26): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
KDSR_chr18_63322726_63372206 | 63324505 | CAAAAATA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01168.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0120 a0001c0001t0001g0121 |
4 | 406 | 0.0099 | -9 | c.*72 others(20): Show |
KDSR | ENSG00000119537.18 | transcript | ENST00000645214.2 | protein_coding | 3220 | chr18 | TogoVar | |||||||
KDSR_chr18_63322726_63372206 | 63324508 | AAATAATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01123.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0108 a0001c0001t0001g0117 others(5): Show |
8 | 406 | 0.0197 | -9 | c.*72 others(20): Show |
KDSR | ENSG00000119537.18 | transcript | ENST00000645214.2 | protein_coding | 3217 | chr18 | TogoVar | |||||||
KEAP1_chr19_10481125_10508356 | 10481277 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0002t0001g0017 a0001c0002t0001g0061 others(1): Show |
7 | 392 | 0.0179 | -9 | c.*53 others(20): Show |
KEAP1 | ENSG00000079999.14 | transcript | ENST00000171111.10 | protein_coding | 4847 | chr19 | TogoVar | |||||||
KEAP1_chr19_10481125_10508356 | 10505254 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01192.hp1 others(21): Show |
a0001a0006 | a0001c0002a0006c0011 | a0001c0002t0001a0001c0002t0002a0006c0011t0006 | a0001c0002t0001g0098 a0001c0002t0002g0011 a0001c0002t0002g0012 others(15): Show |
24 | 392 | 0.0612 | -9 | c.-20 others(20): Show |
KEAP1 | ENSG00000079999.14 | transcript | ENST00000171111.10 | protein_coding | 1899 | chr19 | TogoVar | |||||||
KEL_chr7_142936114_142967363 | 142940149 | GTGTGTGT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01258.hp1 HG02809.hp1 NA18970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0075 |
4 | 253 | 0.0158 | -9 | c.*10 others(20): Show |
KEL | ENSG00000197993.9 | transcript | ENST00000355265.7 | protein_coding | 964 | chr7 | TogoVar | |||||||
KEL_chr7_142936114_142967363 | 142965829 | ATTATATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0017 others(34): Show |
47 | 253 | 0.1858 | -9 | c.-36 others(20): Show |
KEL | ENSG00000197993.9 | transcript | ENST00000355265.7 | protein_coding | 3467 | chr7 | TogoVar | |||||||
KHDC1_chr6_73236314_73268196 | 73262576 | TCTTTCTA others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0027 a0001c0001t0002g0181 a0001c0001t0002g0182 others(8): Show |
12 | 326 | 0.0368 | -9 | c.-14 others(24): Show |
KHDC1 | ENSG00000135314.14 | transcript | ENST00000257765.10 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
KHDC1_chr6_73236314_73268196 | 73265528 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00558.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0022 a0001c0001t0002g0006 a0001c0001t0002g0013 others(20): Show |
31 | 326 | 0.0951 | -9 | c.-27 others(20): Show |
KHDC1 | ENSG00000135314.14 | transcript | ENST00000257765.10 | protein_coding | 2333 | chr6 | TogoVar | |||||||
KHDC4_chr1_155908045_155939413 | 155927833 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02135.hp1 HG02630.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015 a0001c0001t0001g0188 a0001c0001t0001g0189 others(8): Show |
14 | 326 | 0.0429 | -9 | c.465 others(24): Show |
KHDC4 | ENSG00000132680.11 | transcript | ENST00000368321.8 | protein_coding | 4/13 | chr1 | TogoVar | |||||||
KHDC4_chr1_155908045_155939413 | 155927835 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0225 a0001c0001t0002g0027 |
3 | 326 | 0.0092 | -9 | c.465 others(24): Show |
KHDC4 | ENSG00000132680.11 | transcript | ENST00000368321.8 | protein_coding | 4/13 | chr1 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61806635 | GATTTCCC others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(160): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0114 a0001c0001t0002g0064 a0001c0001t0002g0066 others(160): Show |
163 | 244 | 0.6680 | -9 | c.811 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61923338 | GACTATTA others(2): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01952.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0008 a0001c0003t0002g0059 a0001c0003t0002g0061 others(2): Show |
5 | 244 | 0.0205 | -9 | c.484 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61947913 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG03139.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0004a0001c0003t0007a0001c0004t0001 | a0001c0003t0004g0228 a0001c0003t0007g0229 a0001c0003t0007g0230 others(1): Show |
4 | 244 | 0.0164 | -9 | c.483 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62020581 | GCACTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(134): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0029 others(134): Show |
137 | 244 | 0.5615 | -9 | c.336 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62194480 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02155.hp1 HG02895.hp2 HG04228.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0004a0001c0004t0006others(1): Show | a0001c0002t0002g0133 a0001c0002t0004g0192 a0001c0002t0004g0205 others(2): Show |
5 | 244 | 0.0205 | -9 | c.92- others(26): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
KHDRBS3_chr8_135452456_135652610 | 135515365 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG02055.hp1 HG02622.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0003c0004t0001 | a0001c0001t0002g0336 a0001c0001t0003g0240 a0001c0001t0003g0243 others(6): Show |
9 | 342 | 0.0263 | -9 | c.89- others(24): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KHDRBS3_chr8_135452456_135652610 | 135536989 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG01891.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 others(3): Show |
6 | 342 | 0.0175 | -9 | c.208 others(26): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429110 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02922.hp2 NA19030.hp1 |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0065a0001c0006t0066 | a0001c0006t0001g0154 a0001c0006t0065g0155 a0001c0006t0066g0156 |
3 | 386 | 0.0078 | -9 | c.-44 others(20): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4300 | chr19 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429155 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01516.hp2 HG01517.hp1 others(17): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0149 others(10): Show |
20 | 386 | 0.0518 | -9 | c.-44 others(20): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4345 | chr19 | TogoVar | |||||||
KIAA0040_chr1_175151986_175197776 | 175160788 | CCTTCTTC others(2): Show |
C | conservative_inframe_deletion | MODERATE | HG00280.hp1 HG00544.hp1 HG00597.hp2 others(110): Show |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0003a0002c0002t0005a0002c0002t0006others(25): Show | a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0013 others(83): Show |
113 | 394 | 0.2868 | -9 | c.217 others(16): Show |
p.Lys others(11): Show |
KIAA0040 | ENSG00000235750.10 | transcript | ENST00000423313.6 | protein_coding | 4/4 | 745/4548 | 217/300 | 73/99 | chr1 | TogoVar | |||
KIAA0319L_chr1_35428492_35562403 | 35502421 | GTCATCAT others(2): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(4): Show |
7 | 324 | 0.0216 | -9 | c.666 others(26): Show |
KIAA0319L | ENSG00000142687.19 | transcript | ENST00000325722.8 | protein_coding | 3/20 | chr1 | TogoVar | |||||||
KIAA0408_chr6_127433406_127464389 | 127434577 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02886.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 a0001c0001t0002g0015 |
8 | 350 | 0.0229 | -9 | c.*95 others(20): Show |
KIAA0408 | ENSG00000189367.15 | transcript | ENST00000483725.8 | protein_coding | 3828 | chr6 | TogoVar | |||||||
KIAA0753_chr17_6573147_6645711 | 6573837 | AAAAAAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02055.hp2 others(12): Show |
a0004a0006a0007 | a0004c0012a0006c0006a0007c0007 | a0004c0012t0004a0006c0006t0004a0007c0007t0004 | a0004c0012t0004g0023 a0004c0012t0004g0024 a0006c0006t0004g0123 others(12): Show |
15 | 370 | 0.0405 | -9 | c.*59 others(20): Show |
KIAA0753 | ENSG00000198920.11 | transcript | ENST00000361413.8 | protein_coding | 4309 | chr17 | TogoVar | |||||||
KIAA0753_chr17_6573147_6645711 | 6591040 | GGAAGAAG others(2): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01255.hp1 HG01358.hp2 others(12): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0235 a0001c0001t0001g0242 others(11): Show |
15 | 370 | 0.0405 | -9 | c.244 others(26): Show |
KIAA0753 | ENSG00000198920.11 | transcript | ENST00000361413.8 | protein_coding | 16/18 | chr17 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45194052 | CTTTTTTT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG03209.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0085a0001c0001t0086others(3): Show | a0001c0001t0047g0070 a0001c0001t0047g0352 a0001c0001t0085g0157 others(4): Show |
7 | 398 | 0.0176 | -9 | c.*31 others(20): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 10/10 | 3115 | chr22 | TogoVar | ||||||
KIAA1210_chrX_119073635_119132812 | 119125727 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0028 | a0028c0027 | a0028c0027t0035 | a0028c0027t0035g0038 | 1 | 261 | 0.0038 | -9 | c.-11 others(26): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | |||||||
KIAA1217_chr10_24204138_24552843 | 24220446 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp1 others(39): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(20): Show | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 others(39): Show |
42 | 240 | 0.1750 | -9 | c.354 others(24): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24337641 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01243.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0002a0001c0003t0001a0001c0006t0001others(9): Show | a0001c0001t0002g0110 a0001c0003t0001g0045 a0001c0006t0001g0197 others(11): Show |
14 | 240 | 0.0583 | -9 | c.355 others(28): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24382839 | CTTTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00642.hp1 others(64): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(36): Show | a0001c0001t0001a0001c0001t0009a0001c0003t0001others(49): Show | a0001c0001t0001g0151 a0001c0001t0001g0204 a0001c0001t0001g0222 others(64): Show |
67 | 240 | 0.2792 | -9 | c.553 others(26): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24391329 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp1 others(116): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0004others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(78): Show | a0001c0001t0001g0036 a0001c0001t0001g0118 a0001c0001t0001g0151 others(116): Show |
119 | 240 | 0.4958 | -9 | c.553 others(28): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24501729 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02615.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0009a0001c0011others(7): Show | a0001c0004t0001a0001c0004t0003a0001c0009t0001others(8): Show | a0001c0004t0001g0107 a0001c0004t0003g0162 a0001c0004t0003g0199 others(9): Show |
12 | 240 | 0.0500 | -9 | c.200 others(26): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1328_chr18_36824127_37230334 | 37063197 | CATGTCCC others(2): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03139.hp2 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0020 | a0001c0002t0012g0041 a0001c0002t0012g0042 a0001c0002t0020g0043 |
3 | 200 | 0.0150 | -9 | c.577 others(26): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 6/9 | chr18 | TogoVar | |||||||
KIAA1522_chr1_32736830_32779970 | 32739910 | GTTTTTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00639.hp1 others(51): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0057 others(51): Show |
54 | 348 | 0.1552 | -9 | c.-20 others(20): Show |
KIAA1522 | ENSG00000162522.11 | transcript | ENST00000401073.7 | protein_coding | 1919 | chr1 | TogoVar | |||||||
KIAA1522_chr1_32736830_32779970 | 32752958 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG03669.hp1 NA19000.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0246 a0002c0003t0001g0095 a0002c0003t0001g0251 |
3 | 348 | 0.0086 | -9 | c.235 others(28): Show |
KIAA1522 | ENSG00000162522.11 | transcript | ENST00000401073.7 | protein_coding | 1/6 | chr1 | TogoVar |