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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHL31_chr6_53642916_53670756 | 53651399 | T | TAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00544.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0028a0001c0002t0010a0001c0002t0032others(12): Show | a0001c0001t0028g0154 a0001c0001t0028g0158 a0001c0002t0010g0052 others(46): Show |
79 | 420 | 0.1881 | 7 | c.*19 others(16): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 3/3 | 198 | chr6 | TogoVar | ||||||
KLHL31_chr6_53642916_53670756 | 53656931 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(46): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0014others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0002g0034 a0001c0001t0002g0064 a0001c0001t0002g0261 others(36): Show |
49 | 420 | 0.1167 | 7 | c.-33 others(24): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
KLHL31_chr6_53642916_53670756 | 53665964 | A | AAAGAAAG | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01361.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0107 a0001c0001t0003g0029 others(5): Show |
9 | 420 | 0.0214 | 7 | c.-39 others(16): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 209 | chr6 | TogoVar | |||||||
KLHL31_chr6_53642916_53670756 | 53665971 | A | AAGAAAAG | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA19030.hp2 |
a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0051 a0002c0004t0016g0221 |
3 | 420 | 0.0071 | 7 | c.-40 others(16): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 216 | chr6 | TogoVar | |||||||
KLHL32_chr6_96919728_97145753 | 96962714 | C | CACTAGGT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00733.hp1 others(52): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(50): Show |
55 | 244 | 0.2254 | 7 | c.-65 others(24): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL32_chr6_96919728_97145753 | 97100966 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(81): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0123 a0001c0001t0001g0152 a0001c0001t0002g0004 others(80): Show |
84 | 244 | 0.3443 | 7 | c.628 others(26): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL32_chr6_96919728_97145753 | 97118619 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(81): Show |
85 | 244 | 0.3484 | 7 | c.135 others(26): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL33_chr14_20420852_20441166 | 20420875 | T | TATATATA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01928.hp2 HG02135.hp1 others(8): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0003a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0026others(7): Show | a0001c0001t0001g0002 a0001c0001t0008g0249 a0001c0001t0026g0020 others(8): Show |
11 | 480 | 0.0229 | 7 | c.*79 others(18): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4976 | chr14 | TogoVar | |||||||
KLHL36_chr16_84643511_84672686 | 84647321 | A | AAATAAAT | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02280.hp2 HG02486.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0031a0001c0002t0003others(5): Show | a0001c0001t0002g0113 a0001c0001t0031g0098 a0001c0002t0003g0008 others(7): Show |
12 | 448 | 0.0268 | 7 | c.-13 others(18): Show |
KLHL36 | ENSG00000135686.13 | transcript | ENST00000564996.6 | protein_coding | 1189 | chr16 | TogoVar | |||||||
KLHL4_chrX_87512802_87675050 | 87568383 | C | CTTTTTTT | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0232 | 1 | 259 | 0.0039 | 7 | c.423 others(26): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KLHL4_chrX_87512802_87675050 | 87568387 | T | TTCTTTTC | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 259 | 0.0039 | 7 | c.423 others(26): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KLHL5_chr4_39057232_39131233 | 39096185 | G | GTGTCACT | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0012a0001c0001t0024a0001c0001t0032others(1): Show | a0001c0001t0012g0014 a0001c0001t0012g0093 a0001c0001t0012g0095 others(4): Show |
7 | 304 | 0.0230 | 7 | c.111 others(24): Show |
KLHL5 | ENSG00000109790.18 | transcript | ENST00000504108.7 | protein_coding | 5/10 | chr4 | TogoVar | |||||||
KLK10_chr19_51007739_51024709 | 51018164 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 NA18612.hp2 NA18945.hp1 others(15): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0037a0003c0004t0039 | a0003c0004t0005g0014 a0003c0004t0005g0015 a0003c0004t0005g0122 others(3): Show |
18 | 450 | 0.0400 | 7 | c.88+ others(20): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
KLK11_chr19_51017236_51031616 | 51018164 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00423.hp2 NA18612.hp1 NA18945.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0095 a0001c0001t0003g0029 others(4): Show |
17 | 456 | 0.0373 | 7 | c.*43 others(18): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4071 | chr19 | TogoVar | |||||||
KLK13_chr19_51050626_51070092 | 51051302 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG02257.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0037 a0001c0001t0001g0136 a0001c0001t0002g0013 others(4): Show |
9 | 460 | 0.0196 | 7 | c.*52 others(18): Show |
KLK13 | ENSG00000167759.13 | transcript | ENST00000595793.6 | protein_coding | 4323 | chr19 | TogoVar | |||||||
KLK2_chr19_50868439_50885567 | 50871956 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01255.hp2 HG01257.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0021 others(2): Show |
9 | 456 | 0.0197 | 7 | c.-15 others(18): Show |
KLK2 | ENSG00000167751.13 | transcript | ENST00000325321.8 | protein_coding | 1482 | chr19 | TogoVar | |||||||
KLK5_chr19_50938303_50958038 | 50955941 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01257.hp1 HG01361.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0005 a0001c0001t0001g0080 a0001c0001t0001g0093 others(12): Show |
17 | 380 | 0.0447 | 7 | c.-32 others(18): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 2904 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50955941 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01257.hp2 HG01361.hp2 others(12): Show |
a0001a0008a0009others(1): Show | a0001c0001a0001c0002a0008c0015others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0053 others(9): Show |
15 | 316 | 0.0475 | 7 | c.*32 others(18): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 2689 | chr19 | TogoVar | |||||||
KLK8_chr19_50991008_51006604 | 50992767 | G | GAAAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show |
30 | 420 | 0.0714 | 7 | c.*32 others(18): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 3240 | chr19 | TogoVar | |||||||
KLK8_chr19_50991008_51006604 | 50996731 | C | CAAAAAAA | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG02109.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 6 | 420 | 0.0143 | 7 | c.628 others(22): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
KLK8_chr19_50991008_51006604 | 50999583 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG02074.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0024 others(3): Show |
16 | 420 | 0.0381 | 7 | c.493 others(22): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
KLK9_chr19_50997508_51014592 | 50999583 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG02280.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0030 others(10): Show |
15 | 438 | 0.0343 | 7 | c.*35 others(18): Show |
KLK9 | ENSG00000213022.6 | transcript | ENST00000594211.2 | protein_coding | 2924 | chr19 | TogoVar | |||||||
KLKB1_chr4_186222507_186263471 | 186239057 | T | TAGGACAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(238): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0006a0001c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(164): Show |
241 | 432 | 0.5579 | 7 | c.598 others(22): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 6/14 | chr4 | TogoVar | |||||||
KLKB1_chr4_186222507_186263471 | 186245802 | G | GTTTTTTT | intron_variant | MODIFIER | HG01361.hp2 HG01981.hp1 HG02602.hp1 others(6): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0018 a0002c0004t0001g0057 a0002c0004t0001g0260 others(2): Show |
9 | 432 | 0.0208 | 7 | c.599 others(24): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KLKB1_chr4_186222507_186263471 | 186248595 | A | ATTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(61): Show |
a0001a0003a0005 | a0001c0001a0003c0002a0003c0010others(1): Show | a0001c0001t0001a0003c0002t0001a0003c0002t0009others(2): Show | a0001c0001t0001g0204 a0003c0002t0001g0006 a0003c0002t0001g0008 others(34): Show |
64 | 432 | 0.1482 | 7 | c.599 others(24): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KLLN_chr10_87854158_87868533 | 87858636 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01261.hp1 HG01433.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 others(1): Show |
11 | 430 | 0.0256 | 7 | c.*33 others(18): Show |
KLLN | ENSG00000227268.5 | transcript | ENST00000445946.5 | protein_coding | 521 | chr10 | TogoVar | |||||||
KLRC1_chr12_10441028_10458377 | 10441596 | T | TGACTCGG | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG02015.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010 | a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0010 others(10): Show |
42 | 440 | 0.0955 | 7 | c.*49 others(18): Show |
KLRC1 | ENSG00000134545.14 | transcript | ENST00000359151.8 | protein_coding | 4431 | chr12 | TogoVar | |||||||
KLRC3_chr12_10407315_10425595 | 10416009 | A | AATGGCTG | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02055.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0021 a0003c0004t0003g0073 |
4 | 448 | 0.0089 | 7 | c.588 others(22): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 5/6 | chr12 | TogoVar | |||||||
KLRD1_chr12_10302870_10334608 | 10323864 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0032a0001c0001t0053a0001c0001t0054others(30): Show | a0001c0001t0032g0002 a0001c0001t0053g0007 a0001c0001t0053g0050 others(31): Show |
36 | 428 | 0.0841 | 7 | c.*90 others(18): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 6/6 | 9087 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KLRG2_chr7_139447690_139488673 | 139484266 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(100): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0003others(14): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(19): Show | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0052 others(90): Show |
103 | 402 | 0.2562 | 7 | c.-62 others(16): Show |
KLRG2 | ENSG00000188883.5 | transcript | ENST00000340940.5 | protein_coding | 594 | chr7 | TogoVar | |||||||
KLRK1_chr12_10367353_10395041 | 10368743 | G | GAAAAATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(128): Show |
313 | 438 | 0.7146 | 7 | c.*43 others(18): Show |
KLRK1 | ENSG00000213809.9 | transcript | ENST00000240618.11 | protein_coding | 3609 | chr12 | TogoVar | |||||||
KLRK1_chr12_10367353_10395041 | 10374395 | C | CTTTTTTT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01261.hp2 others(4): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0007a0002c0010t0007 | a0002c0002t0007g0043 a0002c0002t0007g0113 a0002c0002t0007g0114 others(3): Show |
7 | 438 | 0.0160 | 7 | c.534 others(24): Show |
KLRK1 | ENSG00000213809.9 | transcript | ENST00000240618.11 | protein_coding | 7/7 | chr12 | TogoVar | |||||||
KL_chr13_33011423_33071143 | 33044640 | C | CTTTTTTT | intron_variant | MODIFIER | HG02293.hp1 NA18967.hp2 NA18985.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005a0003c0030 | a0001c0001t0001a0003c0005t0001a0003c0030t0001 | a0001c0001t0001g0090 a0003c0005t0001g0040 a0003c0005t0001g0092 others(3): Show |
6 | 396 | 0.0152 | 7 | c.820 others(24): Show |
KL | ENSG00000133116.8 | transcript | ENST00000380099.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
KL_chr13_33011423_33071143 | 33068407 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG03942.hp1 NA18945.hp2 NA18953.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0025 a0001c0002t0001g0070 others(1): Show |
7 | 396 | 0.0177 | 7 | c.*42 others(18): Show |
KL | ENSG00000133116.8 | transcript | ENST00000380099.4 | protein_coding | 2265 | chr13 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152178015 | T | TTAAAAAA | splice_region_variant others(1): Show |
LOW | HG00558.hp2 HG00673.hp2 HG01069.hp1 others(6): Show |
a0002a0020 | a0002c0002a0002c0010a0020c0023 | a0002c0002t0002a0002c0010t0002a0020c0023t0007 | a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0066 others(6): Show |
9 | 172 | 0.0523 | 7 | c.744 others(20): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 37/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152391142 | C | CAAAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG02148.hp1 HG02559.hp1 others(9): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0033others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0001others(4): Show | a0001c0001t0001g0093 a0001c0001t0010g0118 a0001c0003t0001g0014 others(9): Show |
12 | 172 | 0.0698 | 7 | c.162 others(26): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | |||||||
KMT2E_chr7_105009205_105120019 | 105023402 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01515.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0186 a0001c0002t0002g0267 a0001c0002t0002g0277 others(6): Show |
9 | 304 | 0.0296 | 7 | c.-18 others(26): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105079511 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00733.hp2 NA18941.hp2 others(5): Show |
a0001a0011 | a0001c0002a0011c0012 | a0001c0002t0001a0001c0002t0002a0011c0012t0002 | a0001c0002t0001g0228 a0001c0002t0002g0236 a0001c0002t0002g0237 others(5): Show |
8 | 304 | 0.0263 | 7 | c.124 others(24): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105087291 | T | TATATATA | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0007 | a0001c0001t0002g0192 a0001c0002t0002g0189 a0001c0002t0002g0190 others(3): Show |
6 | 304 | 0.0197 | 7 | c.135 others(26): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT5A_chr12_123379132_123414353 | 123379715 | C | CTCAAACT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(173): Show |
260 | 334 | 0.7784 | 7 | c.-44 others(18): Show |
KMT5A | ENSG00000183955.14 | transcript | ENST00000402868.8 | protein_coding | 4416 | chr12 | TogoVar | |||||||
KMT5C_chr19_55334876_55353121 | 55337812 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp2 others(116): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(46): Show |
119 | 406 | 0.2931 | 7 | c.-22 others(18): Show |
KMT5C | ENSG00000133247.14 | transcript | ENST00000255613.8 | protein_coding | 2063 | chr19 | TogoVar | |||||||
KNG1_chr3_186712359_186749410 | 186745590 | A | AACGACTC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(224): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0031others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(184): Show |
227 | 430 | 0.5279 | 7 | c.*32 others(18): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 1181 | chr3 | TogoVar | |||||||
KNL1_chr15_40589249_40669342 | 40590824 | A | ATCTATAC | upstream_gene_variant | MODIFIER | NA18951.hp2 NA18962.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 a0001c0001t0001g0307 a0001c0001t0001g0338 |
3 | 370 | 0.0081 | 7 | c.-35 others(18): Show |
KNL1 | ENSG00000137812.21 | transcript | ENST00000399668.7 | protein_coding | 3424 | chr15 | TogoVar | |||||||
KNSTRN_chr15_40377721_40399288 | 40394802 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00673.hp2 others(41): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0005c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show |
44 | 374 | 0.1177 | 7 | c.*12 others(18): Show |
KNSTRN | ENSG00000128944.14 | transcript | ENST00000249776.13 | protein_coding | 515 | chr15 | TogoVar | |||||||
KPNA1_chr3_122416902_122519939 | 122419892 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 others(5): Show |
8 | 400 | 0.0200 | 7 | c.*70 others(18): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 2009 | chr3 | TogoVar | |||||||
KPNA1_chr3_122416902_122519939 | 122511980 | T | TAAAGGGA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0019others(4): Show | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0158 others(90): Show |
96 | 400 | 0.2400 | 7 | c.-6+ others(22): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 1/13 | chr3 | TogoVar | |||||||
KPNA3_chr13_49694320_49797682 | 49730519 | C | CAAAAAAA | intron_variant | MODIFIER | HG01433.hp1 HG01928.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0044 others(4): Show |
7 | 376 | 0.0186 | 7 | c.383 others(24): Show |
KPNA3 | ENSG00000102753.10 | transcript | ENST00000261667.8 | protein_coding | 6/16 | chr13 | TogoVar | |||||||
KPNA3_chr13_49694320_49797682 | 49762920 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG00738.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0004g0205 a0001c0001t0005g0076 a0001c0001t0005g0077 others(29): Show |
32 | 376 | 0.0851 | 7 | c.70- others(24): Show |
KPNA3 | ENSG00000102753.10 | transcript | ENST00000261667.8 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
KPNA4_chr3_160490007_160570571 | 160551766 | C | CTTAATTA | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0033 | a0001c0001t0019g0117 a0001c0001t0019g0118 a0001c0001t0033g0116 |
3 | 308 | 0.0097 | 7 | c.69+ others(24): Show |
KPNA4 | ENSG00000186432.10 | transcript | ENST00000334256.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
KPNA5_chr6_116676211_116746867 | 116710894 | T | TATATATA | intron_variant | MODIFIER | HG02280.hp1 HG02723.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0001t0021others(4): Show | a0001c0001t0006g0127 a0001c0001t0009g0166 a0001c0001t0021g0159 others(4): Show |
7 | 344 | 0.0204 | 7 | c.657 others(24): Show |
KPNA5 | ENSG00000196911.12 | transcript | ENST00000368564.7 | protein_coding | 7/13 | chr6 | TogoVar |