| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KLHL7_chr7_23100785_23182914 | 23147904 | TCTGCCAT others(4): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp2 others(163): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(28): Show | a0001c0001t0001g0005a0001c0001t0001g0301a0001c0001t0001g0302others(153): Show | 166 | 328 | 0.5061 | -11 | c.793 others(28): Show |
KLHL7 | ENSG00000122550.18 | transcript | ENST00000339077.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| KLHL7_chr7_23100785_23182914 | 23174314 | CAGACTCA others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01175.hp1 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0020a0001c0002t0057 | a0001c0002t0004g0008a0001c0002t0004g0075a0001c0002t0004g0076others(18): Show | 22 | 328 | 0.0671 | -11 | c.*23 others(18): Show |
KLHL7 | ENSG00000122550.18 | transcript | ENST00000339077.10 | protein_coding | 11/11 | 23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
| KLK10_chr19_51007739_51024709 | 51020229 | AGAGAGAG others(4): Show |
A | upstream_gene_variant | MODIFIER | NA18968.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0053 | 1 | 450 | 0.0022 | -11 | c.-62 others(20): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 521 | chr19 | TogoVar | ||||||
| KLK11_chr19_51017236_51031616 | 51020229 | AGAGAGAG others(4): Show |
A | downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 456 | 0.0022 | -11 | c.*23 others(22): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 2006 | chr19 | TogoVar | ||||||
| KLK13_chr19_51050626_51070092 | 51051402 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 460 | 0.0022 | -11 | c.*51 others(22): Show |
KLK13 | ENSG00000167759.13 | transcript | ENST00000595793.6 | protein_coding | 4223 | chr19 | TogoVar | ||||||
| KLK15_chr19_50820289_50838574 | 50833268 | CTTGGCTC others(4): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0236 | 1 | 442 | 0.0023 | -11 | c.-32 others(26): Show |
KLK15 | ENSG00000174562.14 | transcript | ENST00000598239.6 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| KLK3_chr19_50849915_50865764 | 50857178 | AAAAAAGA others(4): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0072 | 1 | 462 | 0.0022 | -11 | c.206 others(26): Show |
KLK3 | ENSG00000142515.16 | transcript | ENST00000326003.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KLK3_chr19_50849915_50865764 | 50865332 | TTTCTTTC others(4): Show |
T | downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 462 | 0.0022 | -11 | c.*52 others(22): Show |
KLK3 | ENSG00000142515.16 | transcript | ENST00000326003.7 | protein_coding | 4569 | chr19 | TogoVar | ||||||
| KLK5_chr19_50938303_50958038 | 50945049 | TTCCTTTC others(4): Show |
T | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 380 | 0.0026 | -11 | c.727 others(28): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
| KLK5_chr19_50938303_50958038 | 50955941 | GTTTTTTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00621.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0062a0001c0001t0001g0069others(9): Show | 12 | 380 | 0.0316 | -11 | c.-32 others(22): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 2904 | chr19 | TogoVar | ||||||
| KLK5_chr19_50938303_50958038 | 50957138 | TAAAAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 380 | 0.0026 | -11 | c.-44 others(22): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 4101 | chr19 | TogoVar | ||||||
| KLK6_chr19_50953631_50974591 | 50953832 | TTTGTTTA others(4): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 316 | 0.0032 | -11 | c.*53 others(22): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 4798 | chr19 | TogoVar | ||||||
| KLK6_chr19_50953631_50974591 | 50955941 | GTTTTTTT others(4): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG01255.hp1 others(6): Show |
a0001a0009 | a0001c0001a0009c0006 | a0001c0001t0001a0009c0006t0001 | a0001c0001t0001g0010a0001c0001t0001g0043a0001c0001t0001g0052others(6): Show | 9 | 316 | 0.0285 | -11 | c.*32 others(22): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 2689 | chr19 | TogoVar | ||||||
| KLK6_chr19_50953631_50974591 | 50957138 | TAAAAAAA others(4): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 316 | 0.0032 | -11 | c.*20 others(22): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 1492 | chr19 | TogoVar | ||||||
| KLK6_chr19_50953631_50974591 | 50960060 | GGGGGAGG others(4): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0071 | 1 | 316 | 0.0032 | -11 | c.583 others(26): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
| KLK8_chr19_50991008_51006604 | 50992253 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01978.hp2 HG02293.hp1 HG03834.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0095others(2): Show | 5 | 420 | 0.0119 | -11 | c.*37 others(22): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 3754 | chr19 | TogoVar | ||||||
| KLK8_chr19_50991008_51006604 | 50999583 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02630.hp2 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0138a0001c0001t0001g0145 | 3 | 420 | 0.0071 | -11 | c.493 others(26): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
| KLK9_chr19_50997508_51014592 | 50999583 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02630.hp2 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0123 | 2 | 438 | 0.0046 | -11 | c.*35 others(22): Show |
KLK9 | ENSG00000213022.6 | transcript | ENST00000594211.2 | protein_coding | 2924 | chr19 | TogoVar | ||||||
| KLKB1_chr4_186222507_186263471 | 186245813 | TTTGTTTT others(4): Show |
T | intron_variant | MODIFIER | NA18946.hp1 NA18986.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0056 | 2 | 432 | 0.0046 | -11 | c.599 others(28): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| KLLN_chr10_87854158_87868533 | 87858636 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | NA18940.hp1 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 2 | 430 | 0.0047 | -11 | c.*33 others(22): Show |
KLLN | ENSG00000227268.5 | transcript | ENST00000445946.5 | protein_coding | 521 | chr10 | TogoVar | ||||||
| KLRC1_chr12_10441028_10458377 | 10441040 | ATATAATT others(4): Show |
A | downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 440 | 0.0023 | -11 | c.*55 others(22): Show |
KLRC1 | ENSG00000134545.14 | transcript | ENST00000359151.8 | protein_coding | 4987 | chr12 | TogoVar | ||||||
| KLRC1_chr12_10441028_10458377 | 10441065 | CAAATATA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG02015.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010 | a0001c0001t0002g0004a0001c0001t0002g0008a0001c0001t0002g0010others(10): Show | 42 | 440 | 0.0955 | -11 | c.*54 others(22): Show |
KLRC1 | ENSG00000134545.14 | transcript | ENST00000359151.8 | protein_coding | 4962 | chr12 | TogoVar | ||||||
| KLRG2_chr7_139447690_139488673 | 139451966 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0273 | 1 | 402 | 0.0025 | -11 | c.*16 others(22): Show |
KLRG2 | ENSG00000188883.5 | transcript | ENST00000340940.5 | protein_coding | 723 | chr7 | TogoVar | ||||||
| KLRG2_chr7_139447690_139488673 | 139454853 | AATAATAA others(4): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02735.hp1 HG02738.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0158a0002c0001t0001g0023a0002c0001t0001g0132others(2): Show | 6 | 402 | 0.0149 | -11 | c.100 others(28): Show |
KLRG2 | ENSG00000188883.5 | transcript | ENST00000340940.5 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
| KLRK1_chr12_10367353_10395041 | 10375788 | ATACTCTA others(4): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01109.hp2 others(35): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0010 | a0001c0003t0006a0002c0002t0003a0002c0002t0006others(2): Show | a0001c0003t0006g0067a0002c0002t0003g0044a0002c0002t0003g0123others(19): Show | 38 | 438 | 0.0868 | -11 | c.533 others(28): Show |
KLRK1 | ENSG00000213809.9 | transcript | ENST00000240618.11 | protein_coding | 7/7 | chr12 | TogoVar | ||||||
| KL_chr13_33011423_33071143 | 33013821 | AAGCACAG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 396 | 0.0025 | -11 | c.-26 others(22): Show |
KL | ENSG00000133116.8 | transcript | ENST00000380099.4 | protein_coding | 2601 | chr13 | TogoVar | ||||||
| KL_chr13_33011423_33071143 | 33044635 | ATTTTCTT others(4): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02486.hp2 HG03017.hp1 others(8): Show |
a0001a0002a0015 | a0001c0002a0001c0003a0001c0008others(3): Show | a0001c0002t0001a0001c0003t0009a0001c0008t0015others(3): Show | a0001c0002t0001g0245a0001c0002t0001g0246a0001c0003t0009g0247others(7): Show | 11 | 396 | 0.0278 | -11 | c.820 others(28): Show |
KL | ENSG00000133116.8 | transcript | ENST00000380099.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| KL_chr13_33011423_33071143 | 33068407 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02647.hp2 |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0003a0005c0012t0003 | a0001c0001t0003g0116a0005c0012t0003g0051 | 2 | 396 | 0.0051 | -11 | c.*42 others(22): Show |
KL | ENSG00000133116.8 | transcript | ENST00000380099.4 | protein_coding | 2265 | chr13 | TogoVar | ||||||
| KMO_chr1_241527378_241600642 | 241528719 | GGGAGAGA others(4): Show |
G | upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 422 | 0.0024 | -11 | c.-37 others(22): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 3658 | chr1 | TogoVar | ||||||
| KMO_chr1_241527378_241600642 | 241528721 | GAGAGAGA others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02630.hp1 HG03195.hp1 HG03471.hp2 others(1): Show |
a0001a0003 | a0001c0005a0001c0010a0003c0007 | a0001c0005t0002a0001c0010t0050a0003c0007t0064 | a0001c0005t0002g0375a0001c0005t0002g0390a0001c0010t0050g0407others(1): Show | 4 | 422 | 0.0095 | -11 | c.-37 others(22): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 3656 | chr1 | TogoVar | ||||||
| KMO_chr1_241527378_241600642 | 241528767 | GAGAGAGA others(4): Show |
G | upstream_gene_variant | MODIFIER | HG01993.hp2 NA18944.hp2 NA18948.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0011others(1): Show | a0001c0001t0001g0350a0001c0001t0012g0177a0001c0002t0011g0170others(1): Show | 4 | 422 | 0.0095 | -11 | c.-36 others(22): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 3610 | chr1 | TogoVar | ||||||
| KMO_chr1_241527378_241600642 | 241588329 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 | 1 | 422 | 0.0024 | -11 | c.101 others(28): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KMT2A_chr11_118431492_118531832 | 118437370 | CCTCTCGG others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02717.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0187a0001c0001t0001g0190a0001c0001t0001g0191others(8): Show | 11 | 200 | 0.0550 | -11 | c.432 others(26): Show |
KMT2A | ENSG00000118058.25 | transcript | ENST00000534358.8 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| KMT2A_chr11_118431492_118531832 | 118519077 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0003a0001c0025a0001c0026 | a0001c0003t0002a0001c0025t0014a0001c0026t0002 | a0001c0003t0002g0072a0001c0003t0002g0145a0001c0025t0014g0057others(1): Show | 4 | 200 | 0.0200 | -11 | c.111 others(30): Show |
KMT2A | ENSG00000118058.25 | transcript | ENST00000534358.8 | protein_coding | 31/35 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| KMT2B_chr19_35713003_35743878 | 35743373 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02738.hp1 NA19240.hp1 |
a0001a0014 | a0001c0003a0014c0051 | a0001c0003t0001a0001c0003t0003a0014c0051t0001 | a0001c0003t0001g0049a0001c0003t0003g0013a0014c0051t0001g0049 | 3 | 396 | 0.0076 | -11 | c.*48 others(22): Show |
KMT2B | ENSG00000272333.8 | transcript | ENST00000420124.4 | protein_coding | 4496 | chr19 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152130284 | CTAGTGTC others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01884.hp1 others(7): Show |
a0002a0005 | a0002c0004a0005c0037 | a0002c0004t0002a0005c0037t0001 | a0002c0004t0002g0020a0002c0004t0002g0024a0002c0004t0002g0025others(7): Show | 10 | 172 | 0.0581 | -11 | c.*65 others(22): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 4640 | chr7 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152147718 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG01891.hp1 others(3): Show |
a0002 | a0002c0007 | a0002c0007t0002a0002c0007t0008 | a0002c0007t0002g0017a0002c0007t0002g0022a0002c0007t0002g0050others(3): Show | 6 | 172 | 0.0349 | -11 | c.138 others(30): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 52/58 | chr7 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152226219 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02897.hp2 | a0010 | a0010c0016 | a0010c0016t0006 | a0010c0016t0006g0172 | 1 | 172 | 0.0058 | -11 | c.297 others(30): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 18/58 | chr7 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152253514 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0059 | 1 | 172 | 0.0058 | -11 | c.130 others(28): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 9/58 | chr7 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152290284 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 | 1 | 172 | 0.0058 | -11 | c.850 others(30): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152290290 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 172 | 0.0058 | -11 | c.850 others(30): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152290292 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 172 | 0.0058 | -11 | c.850 others(30): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152290294 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0104 | 1 | 172 | 0.0058 | -11 | c.850 others(30): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152341915 | AATAATAT others(4): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0053 | 1 | 172 | 0.0058 | -11 | c.251 others(30): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 2/58 | chr7 | TogoVar | ||||||
| KMT2D_chr12_49013978_49065794 | 49040685 | GGAGAAGG others(4): Show |
G | frameshift_variant | HIGH | NA18967.hp1 | a0016 | a0016c0057 | a0016c0057t0002 | a0016c0057t0002g0153 | 1 | 302 | 0.0033 | -11 | c.707 others(20): Show |
p.Leu others(6): Show |
KMT2D | ENSG00000167548.18 | transcript | ENST00000301067.12 | protein_coding | 32/55 | 8303/20635 | 7074/16614 | 2358/5537 | chr12 | TogoVar | ||
| KMT2E_chr7_105009205_105120019 | 105064164 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG03209.hp2 NA19240.hp2 |
a0004 | a0004c0006 | a0004c0006t0008 | a0004c0006t0008g0027a0004c0006t0008g0030 | 2 | 304 | 0.0066 | -11 | c.416 others(26): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| KMT2E_chr7_105009205_105120019 | 105071595 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 304 | 0.0033 | -11 | c.498 others(28): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | chr7 | TogoVar | ||||||
| KMT2E_chr7_105009205_105120019 | 105071602 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0180 | 1 | 304 | 0.0033 | -11 | c.498 others(28): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| KMT2E_chr7_105009205_105120019 | 105071606 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03225.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0185a0001c0002t0005g0288 | 2 | 304 | 0.0066 | -11 | c.498 others(28): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| KMT2E_chr7_105009205_105120019 | 105073184 | GGATCACT others(4): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02965.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0185a0001c0002t0005g0281a0001c0002t0005g0283others(2): Show | 5 | 304 | 0.0165 | -11 | c.498 others(26): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | chr7 | TogoVar |