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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHL8_chr4_87155103_87225618 | 87158912 | A | AAACAACA others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0012others(7): Show | a0001c0001t0004g0001a0001c0001t0004g0275a0001c0001t0004g0318others(37): Show | 46 | 364 | 0.1264 | 9 | c.*46 others(20): Show |
KLHL8 | ENSG00000145332.14 | transcript | ENST00000273963.10 | protein_coding | 1190 | chr4 | TogoVar | ||||||
KLK10_chr19_51007739_51024709 | 51018164 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18968.hp2 NA18969.hp2 others(3): Show |
a0001a0003a0005 | a0001c0003a0003c0004a0005c0013 | a0001c0003t0003a0003c0004t0005a0005c0013t0005 | a0001c0003t0003g0155a0003c0004t0005g0053a0003c0004t0005g0054others(1): Show | 6 | 450 | 0.0133 | 9 | c.88+ others(22): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
KLK11_chr19_51017236_51031616 | 51018164 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 NA18968.hp1 NA18969.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0008a0002c0002t0001g0005others(2): Show | 6 | 456 | 0.0132 | 9 | c.*43 others(20): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4071 | chr19 | TogoVar | ||||||
KLK11_chr19_51017236_51031616 | 51030320 | C | CATTATTA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(76): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(34): Show | 79 | 456 | 0.1733 | 9 | c.-38 others(20): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 3705 | chr19 | TogoVar | ||||||
KLK12_chr19_51024094_51040002 | 51030320 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp2 others(76): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0018a0001c0001t0001g0020others(36): Show | 79 | 448 | 0.1763 | 9 | c.591 others(24): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
KLK13_chr19_51050626_51070092 | 51057133 | T | TCCCACCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(333): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(113): Show | 336 | 460 | 0.7304 | 9 | c.646 others(24): Show |
KLK13 | ENSG00000167759.13 | transcript | ENST00000595793.6 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
KLK2_chr19_50868439_50885567 | 50871956 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(56): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(22): Show | 59 | 456 | 0.1294 | 9 | c.-15 others(20): Show |
KLK2 | ENSG00000167751.13 | transcript | ENST00000325321.8 | protein_coding | 1482 | chr19 | TogoVar | ||||||
KLK3_chr19_50849915_50865764 | 50857162 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0002g0050a0001c0002t0001g0094a0001c0002t0001g0095others(13): Show | 103 | 462 | 0.2229 | 9 | c.206 others(24): Show |
KLK3 | ENSG00000142515.16 | transcript | ENST00000326003.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KLK5_chr19_50938303_50958038 | 50941768 | C | CATTATTA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01069.hp2 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0127a0001c0001t0001g0129others(17): Show | 21 | 380 | 0.0553 | 9 | c.*18 others(20): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 1534 | chr19 | TogoVar | ||||||
KLK6_chr19_50953631_50974591 | 50959718 | G | GGAGGAGG others(2): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02055.hp2 HG02109.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0007others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0022a0001c0001t0001g0023others(22): Show | 27 | 316 | 0.0854 | 9 | c.583 others(24): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
KLK6_chr19_50953631_50974591 | 50959836 | A | AAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0050a0001c0001t0001g0209others(2): Show | 6 | 316 | 0.0190 | 9 | c.583 others(24): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
KLK6_chr19_50953631_50974591 | 50960041 | G | GGGGGAAG others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG00741.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0039a0001c0001t0001g0134a0001c0001t0001g0160others(3): Show | 6 | 316 | 0.0190 | 9 | c.583 others(24): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
KLK8_chr19_50991008_51006604 | 50999583 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03710.hp1 NA18967.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0118a0001c0001t0001g0119others(3): Show | 7 | 420 | 0.0167 | 9 | c.493 others(24): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KLK9_chr19_50997508_51014592 | 50999583 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG03710.hp1 NA18967.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0007a0001c0001t0001g0145a0001c0001t0001g0153others(3): Show | 7 | 438 | 0.0160 | 9 | c.*35 others(20): Show |
KLK9 | ENSG00000213022.6 | transcript | ENST00000594211.2 | protein_coding | 2924 | chr19 | TogoVar | ||||||
KLKB1_chr4_186222507_186263471 | 186259276 | T | TTAGTAGT others(2): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 NA18522.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0223a0001c0001t0001g0225 | 3 | 432 | 0.0069 | 9 | c.*10 others(20): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 806 | chr4 | TogoVar | ||||||
KLKB1_chr4_186222507_186263471 | 186259279 | T | TTAGTAGT others(2): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
a0001a0011 | a0001c0006a0011c0016 | a0001c0006t0001a0011c0016t0001 | a0001c0006t0001g0035a0001c0006t0001g0100a0001c0006t0001g0101others(2): Show | 6 | 432 | 0.0139 | 9 | c.*10 others(20): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 809 | chr4 | TogoVar | ||||||
KLLN_chr10_87854158_87868533 | 87858636 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0014g0000 | 11 | 430 | 0.0256 | 9 | c.*33 others(20): Show |
KLLN | ENSG00000227268.5 | transcript | ENST00000445946.5 | protein_coding | 521 | chr10 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607266 | C | CTTTTTCT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(137): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0020a0001c0001t0002g0104a0001c0001t0002g0118others(124): Show | 140 | 436 | 0.3211 | 9 | c.85+ others(22): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRC3_chr12_10407315_10425595 | 10424951 | C | CTATTTCC others(2): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01261.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0067 | 8 | 448 | 0.0179 | 9 | c.-44 others(20): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 4357 | chr12 | TogoVar | ||||||
KLRG2_chr7_139447690_139488673 | 139466740 | T | TAAAATAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01074.hp2 others(55): Show |
a0001a0003a0004others(3): Show | a0001c0002a0001c0003a0001c0016others(10): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0001others(13): Show | a0001c0002t0001g0281a0001c0002t0004g0175a0001c0002t0004g0176others(51): Show | 58 | 402 | 0.1443 | 9 | c.100 others(30): Show |
KLRG2 | ENSG00000188883.5 | transcript | ENST00000340940.5 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
KLRG2_chr7_139447690_139488673 | 139484266 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00642.hp1 others(35): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0003a0003c0005others(3): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0001others(7): Show | a0001c0002t0001g0162a0001c0002t0001g0174a0001c0002t0001g0236others(35): Show | 38 | 402 | 0.0945 | 9 | c.-62 others(18): Show |
KLRG2 | ENSG00000188883.5 | transcript | ENST00000340940.5 | protein_coding | 594 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152178015 | T | TTAAAAAA others(2): Show |
splice_region_variant others(1): Show |
LOW | HG02886.hp2 HG04199.hp1 NA18965.hp1 others(2): Show |
a0002 | a0002c0002a0002c0024 | a0002c0002t0002a0002c0024t0002 | a0002c0002t0002g0055a0002c0002t0002g0065a0002c0002t0002g0069others(2): Show | 5 | 172 | 0.0291 | 9 | c.744 others(22): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 37/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152356897 | G | GAATAATA others(2): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02970.hp2 NA19004.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0153a0001c0001t0001g0157a0001c0001t0001g0165others(1): Show | 4 | 172 | 0.0233 | 9 | c.250 others(26): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 2/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152364617 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01433.hp1 others(21): Show |
a0002a0011a0012others(2): Show | a0002c0002a0002c0004a0002c0011others(5): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(6): Show | a0002c0002t0002g0018a0002c0002t0002g0019a0002c0002t0002g0053others(21): Show | 24 | 172 | 0.1395 | 9 | c.162 others(26): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152364617 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01069.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055a0002c0002t0002g0062a0002c0002t0002g0063others(8): Show | 11 | 172 | 0.0640 | 9 | c.162 others(26): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152384549 | C | CACCACCA others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01891.hp1 HG02109.hp2 others(2): Show |
a0002 | a0002c0002a0002c0004a0002c0007 | a0002c0002t0002a0002c0004t0002a0002c0007t0002 | a0002c0002t0002g0018a0002c0004t0002g0027a0002c0007t0002g0017others(2): Show | 5 | 172 | 0.0291 | 9 | c.162 others(28): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152391142 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02055.hp2 HG02135.hp2 others(4): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0017others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0017t0001others(3): Show | a0001c0001t0001g0091a0001c0003t0001g0088a0001c0003t0001g0111others(4): Show | 7 | 172 | 0.0407 | 9 | c.162 others(28): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152413885 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00738.hp2 others(59): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0001others(16): Show | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0094others(59): Show | 62 | 172 | 0.3605 | 9 | c.161 others(28): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105023402 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0223a0001c0002t0001g0228a0001c0002t0002g0204others(12): Show | 15 | 304 | 0.0493 | 9 | c.-18 others(28): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KMT2E_chr7_105009205_105120019 | 105087284 | G | GATATAAT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(111): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0005a0001c0013others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(12): Show | a0001c0002t0001g0216a0001c0002t0001g0217a0001c0002t0001g0218others(111): Show | 114 | 304 | 0.3750 | 9 | c.135 others(28): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KNSTRN_chr15_40377721_40399288 | 40394802 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0002g0009 | 11 | 374 | 0.0294 | 9 | c.*12 others(20): Show |
KNSTRN | ENSG00000128944.14 | transcript | ENST00000249776.13 | protein_coding | 515 | chr15 | TogoVar | ||||||
KNSTRN_chr15_40377721_40399288 | 40394823 | T | TTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01192.hp2 others(4): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0006 | a0002c0002t0001a0003c0003t0001a0006c0006t0001 | a0002c0002t0001g0006a0003c0003t0001g0006a0006c0006t0001g0073 | 7 | 374 | 0.0187 | 9 | c.*12 others(20): Show |
KNSTRN | ENSG00000128944.14 | transcript | ENST00000249776.13 | protein_coding | 536 | chr15 | TogoVar | ||||||
KPNA1_chr3_122416902_122519939 | 122476861 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG01358.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0021 | a0001c0001t0002g0011a0001c0001t0002g0174a0001c0001t0002g0175others(12): Show | 16 | 400 | 0.0400 | 9 | c.130 others(26): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 2/13 | chr3 | TogoVar | ||||||
KPNA2_chr17_68030735_68051854 | 68051133 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00639.hp1 others(44): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008others(18): Show | 47 | 340 | 0.1382 | 9 | c.*45 others(20): Show |
KPNA2 | ENSG00000182481.10 | transcript | ENST00000330459.8 | protein_coding | 4280 | chr17 | TogoVar | ||||||
KPNA5_chr6_116676211_116746867 | 116710894 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02895.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0021 | a0001c0001t0002g0006a0001c0001t0002g0034a0001c0001t0002g0065others(3): Show | 7 | 344 | 0.0204 | 9 | c.657 others(26): Show |
KPNA5 | ENSG00000196911.12 | transcript | ENST00000368564.7 | protein_coding | 7/13 | chr6 | TogoVar | ||||||
KPNB1_chr17_47644919_47690505 | 47675361 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01361.hp2 others(3): Show |
a0001 | a0001c0003a0001c0007a0001c0008others(2): Show | a0001c0003t0002a0001c0003t0003a0001c0007t0003others(3): Show | a0001c0003t0002g0060a0001c0003t0003g0059a0001c0007t0003g0263others(3): Show | 6 | 384 | 0.0156 | 9 | c.191 others(26): Show |
KPNB1 | ENSG00000108424.11 | transcript | ENST00000290158.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KPNB1_chr17_47644919_47690505 | 47683090 | T | TAAAAAAA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01346.hp2 HG01515.hp2 NA18964.hp2 others(3): Show |
a0001 | a0001c0006a0001c0013a0001c0050 | a0001c0006t0014a0001c0013t0014a0001c0050t0031 | a0001c0006t0014g0008a0001c0006t0014g0022a0001c0006t0014g0133others(3): Show | 6 | 384 | 0.0156 | 9 | c.*70 others(18): Show |
KPNB1 | ENSG00000108424.11 | transcript | ENST00000290158.9 | protein_coding | 22/22 | 716 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
KPTN_chr19_47470150_47489219 | 47470345 | T | TACATACA others(2): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG02922.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0045a0001c0001t0001g0114a0001c0001t0003g0080 | 3 | 378 | 0.0079 | 9 | c.*50 others(20): Show |
KPTN | ENSG00000118162.14 | transcript | ENST00000338134.8 | protein_coding | 4804 | chr19 | TogoVar | ||||||
KPTN_chr19_47470150_47489219 | 47478567 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp2 others(83): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0018a0001c0001t0001g0030a0001c0001t0001g0032others(26): Show | 86 | 378 | 0.2275 | 9 | c.788 others(24): Show |
KPTN | ENSG00000118162.14 | transcript | ENST00000338134.8 | protein_coding | 8/11 | chr19 | TogoVar | ||||||
KRBA2_chr17_8353822_8381704 | 8374937 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02129.hp1 HG02896.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0012 | a0001c0001t0011a0001c0001t0035a0001c0001t0080others(3): Show | a0001c0001t0011g0318a0001c0001t0035g0019a0001c0001t0080g0076others(3): Show | 7 | 388 | 0.0180 | 9 | c.-21 others(24): Show |
KRBA2 | ENSG00000184619.8 | transcript | ENST00000396267.3 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
KRBOX4_chrX_46442297_46479639 | 46479540 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0029a0001c0001t0011g0118 | 2 | 318 | 0.0063 | 9 | c.*65 others(20): Show |
KRBOX4 | ENSG00000147121.16 | transcript | ENST00000344302.9 | protein_coding | 4902 | chrX | TogoVar | ||||||
KRI1_chr19_10548085_10571010 | 10570547 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00639.hp2 others(33): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0010a0004c0004others(5): Show | a0001c0001t0001a0001c0001t0009a0003c0010t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0106others(17): Show | 36 | 406 | 0.0887 | 9 | c.-45 others(20): Show |
KRI1 | ENSG00000129347.21 | transcript | ENST00000312962.12 | protein_coding | 4538 | chr19 | TogoVar | ||||||
KRR1_chr12_75485863_75516609 | 75506616 | C | CAAAAAAA others(2): Show |
splice_region_variant others(1): Show |
LOW | HG00621.hp1 HG02572.hp2 HG02723.hp2 others(6): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0049a0002c0002t0003a0002c0002t0005others(4): Show | a0001c0004t0049g0052a0002c0002t0003g0145a0002c0002t0005g0045others(5): Show | 9 | 368 | 0.0245 | 9 | c.394 others(21): Show |
KRR1 | ENSG00000111615.14 | transcript | ENST00000229214.9 | protein_coding | 3/9 | chr12 | TogoVar | ||||||
KRT18_chr12_52944118_52957906 | 52953837 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01256.hp1 HG01358.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0016 | 7 | 406 | 0.0172 | 9 | c.*99 others(18): Show |
KRT18 | ENSG00000111057.11 | transcript | ENST00000388835.4 | protein_coding | 932 | chr12 | TogoVar | ||||||
KRT23_chr17_40917700_40942646 | 40942380 | T | TCCTCCTC others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(57): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0015 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0154others(23): Show | 60 | 437 | 0.1373 | 9 | c.-53 others(20): Show |
KRT23 | ENSG00000108244.17 | transcript | ENST00000209718.8 | protein_coding | 4735 | chr17 | TogoVar | ||||||
KRT27_chr17_40771808_40787550 | 40786298 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01346.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012 | 12 | 464 | 0.0259 | 9 | c.-38 others(20): Show |
KRT27 | ENSG00000171446.7 | transcript | ENST00000301656.4 | protein_coding | 3749 | chr17 | TogoVar | ||||||
KRT39_chr17_40953417_40971948 | 40953585 | C | CTGTTTTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG00741.hp2 others(66): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0003t0004others(3): Show | a0001c0001t0001g0003a0002c0002t0002g0004a0002c0002t0002g0011others(13): Show | 69 | 423 | 0.1631 | 9 | c.*50 others(20): Show |
KRT39 | ENSG00000196859.8 | transcript | ENST00000355612.7 | protein_coding | 4831 | chr17 | TogoVar | ||||||
KRT5_chr12_52509575_52525394 | 52512710 | G | GGCTGCTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01109.hp1 others(7): Show |
a0003 | a0003c0003a0003c0009a0003c0010others(1): Show | a0003c0003t0004a0003c0003t0005a0003c0009t0004others(2): Show | a0003c0003t0004g0067a0003c0003t0005g0034a0003c0009t0004g0011others(2): Show | 10 | 456 | 0.0219 | 9 | c.*22 others(20): Show |
KRT5 | ENSG00000186081.12 | transcript | ENST00000252242.9 | protein_coding | 1864 | chr12 | TogoVar | ||||||
KRT71_chr12_52538909_52558145 | 52543887 | T | TGAATACT others(2): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 NA18970.hp1 NA18971.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 4 | 450 | 0.0089 | 9 | c.*64 others(18): Show |
KRT71 | ENSG00000139648.7 | transcript | ENST00000267119.6 | protein_coding | 21 | chr12 | TogoVar | ||||||
KRTAP1-1_chr17_41035541_41046450 | 41035763 | C | CTTTCTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG03139.hp1 others(1): Show |
a0004a0005a0008 | a0004c0004a0005c0005a0008c0010 | a0004c0004t0001a0005c0005t0001a0008c0010t0001 | a0004c0004t0001g0000a0005c0005t0001g0000a0008c0010t0001g0000 | 4 | 403 | 0.0099 | 9 | c.*51 others(20): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 4777 | chr17 | TogoVar |