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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHL1_chr13_69695597_70113452 | 69956116 | A | ATATATTT others(21): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0018a0001c0001t0021others(2): Show | a0001c0001t0002g0087a0001c0001t0018g0130a0001c0001t0021g0157others(2): Show | 5 | 182 | 0.0275 | 28 | c.817 others(45): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69956152 | A | ATATATTT others(21): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02897.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006 | a0001c0001t0003g0142a0001c0001t0005g0018a0001c0001t0006g0042 | 3 | 182 | 0.0165 | 28 | c.817 others(45): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 70024620 | T | TTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 182 | 0.0055 | 28 | c.498 others(47): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 70024620 | T | TTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0087a0001c0001t0018g0130 | 2 | 182 | 0.0110 | 28 | c.498 others(47): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 70094393 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02886.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0007a0001c0003t0003others(1): Show | a0001c0001t0003g0154a0001c0001t0007g0138a0001c0003t0003g0145others(1): Show | 4 | 182 | 0.0220 | 28 | c.497 others(47): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169734196 | A | AGGCCGCG others(21): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0219 | 1 | 400 | 0.0025 | 28 | c.-3+ others(41): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL23_chr2_169728832_169756878 | 169740766 | T | TAATATAT others(21): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02135.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0005a0001c0002t0034 | a0001c0001t0006g0041a0001c0001t0006g0048a0001c0001t0006g0054others(2): Show | 6 | 400 | 0.0150 | 28 | c.121 others(45): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169740766 | T | TTTTATAT others(21): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0113 | a0001c0002t0113g0200 | 1 | 400 | 0.0025 | 28 | c.121 others(45): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL23_chr2_169728832_169756878 | 169749913 | T | TTATATAT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG01978.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0139a0001c0001t0140 | a0001c0001t0139g0300a0001c0001t0140g0296 | 2 | 400 | 0.0050 | 28 | c.*19 others(37): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 4/4 | 200 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
KLHL23_chr2_169728832_169756878 | 169753147 | A | ATATATCT others(21): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0048 | 1 | 400 | 0.0025 | 28 | c.*34 others(39): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 1270 | chr2 | TogoVar | ||||||
KLHL28_chr14_44919324_44966947 | 44935890 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG02293.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0044a0001c0001t0001g0048others(8): Show | 13 | 224 | 0.0580 | 28 | c.900 others(45): Show |
KLHL28 | ENSG00000179454.14 | transcript | ENST00000396128.9 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
KLHL30_chr2_238133668_238157947 | 238144369 | C | CGGAAGGA others(21): Show |
intron_variant | MODIFIER | HG01346.hp2 NA19001.hp2 NA19057.hp1 |
a0002a0003a0018 | a0002c0002a0003c0003a0018c0029 | a0002c0002t0002a0003c0003t0001a0018c0029t0002 | a0002c0002t0002g0209a0003c0003t0001g0312a0018c0029t0002g0210 | 3 | 450 | 0.0067 | 28 | c.908 others(43): Show |
KLHL30 | ENSG00000168427.9 | transcript | ENST00000409223.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL31_chr6_53642916_53670756 | 53666015 | A | AGAAAGAA others(21): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0005 | a0001c0005t0024 | a0001c0005t0024g0182 | 1 | 420 | 0.0024 | 28 | c.-44 others(37): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 260 | chr6 | TogoVar | ||||||
KLHL31_chr6_53642916_53670756 | 53666076 | G | GAGAAAGA others(21): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01358.hp1 HG01433.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0002a0001c0001t0002g0028a0001c0001t0002g0034others(17): Show | 21 | 420 | 0.0500 | 28 | c.-51 others(37): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 321 | chr6 | TogoVar | ||||||
KLHL32_chr6_96919728_97145753 | 97055796 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0166 | 1 | 244 | 0.0041 | 28 | c.313 others(45): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KLHL33_chr14_20420852_20441166 | 20432926 | A | AAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01516.hp1 HG01517.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0008a0002c0002t0003a0002c0002t0007others(3): Show | a0001c0001t0008g0231a0002c0002t0003g0028a0002c0002t0007g0133others(3): Show | 8 | 480 | 0.0167 | 28 | c.748 others(45): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
KLHL38_chr8_123639442_123658801 | 123658384 | T | TGGGGGGG others(21): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 446 | 0.0022 | 28 | c.-48 others(39): Show |
KLHL38 | ENSG00000175946.9 | transcript | ENST00000684634.1 | protein_coding | 4584 | chr8 | TogoVar | ||||||
KLHL3_chr5_137612500_137741089 | 137682403 | T | TAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG01496.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0068a0001c0001t0001g0104a0001c0001t0001g0112others(8): Show | 11 | 252 | 0.0437 | 28 | c.527 others(45): Show |
KLHL3 | ENSG00000146021.15 | transcript | ENST00000309755.9 | protein_coding | 5/14 | chr5 | TogoVar | ||||||
KLHL40_chr3_42680537_42697544 | 42684289 | A | ATGTGTGT others(21): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 NA18985.hp1 NA18985.hp2 others(2): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0004c0004t0002 | a0002c0002t0001g0019a0002c0002t0002g0005a0004c0004t0002g0009 | 5 | 438 | 0.0114 | 28 | c.-13 others(39): Show |
KLHL40 | ENSG00000157119.12 | transcript | ENST00000287777.5 | protein_coding | 1247 | chr3 | TogoVar | ||||||
KLHL4_chrX_87512802_87675050 | 87551608 | T | TAGATAGA others(21): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01891.hp2 HG01952.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0035a0001c0001t0002g0025a0001c0001t0002g0041others(29): Show | 32 | 259 | 0.1236 | 28 | c.422 others(47): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KLHL5_chr4_39057232_39131233 | 39101124 | T | TTATATAC others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 304 | 0.0033 | 28 | c.130 others(47): Show |
KLHL5 | ENSG00000109790.18 | transcript | ENST00000504108.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KLHL6_chr3_183482551_183560706 | 183525263 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02683.hp1 NA19055.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0010a0001c0002t0019others(1): Show | a0001c0001t0001g0094a0001c0002t0010g0021a0001c0002t0019g0024others(1): Show | 4 | 298 | 0.0134 | 28 | c.459 others(45): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
KLHL6_chr3_183482551_183560706 | 183525265 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01934.hp2 HG03710.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0064 | a0001c0002t0002g0014a0001c0002t0002g0181a0001c0002t0002g0258others(1): Show | 4 | 298 | 0.0134 | 28 | c.459 others(45): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
KLHL6_chr3_183482551_183560706 | 183529144 | C | CCGGAGGG others(21): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0003 | a0001c0003t0106 | a0001c0003t0106g0032 | 1 | 298 | 0.0034 | 28 | c.294 others(45): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
KLK10_chr19_51007739_51024709 | 51020233 | A | AGAGAGAG others(21): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 450 | 0.0022 | 28 | c.-61 others(37): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 525 | chr19 | TogoVar | ||||||
KLK11_chr19_51017236_51031616 | 51020233 | A | AGAGAGAG others(21): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 456 | 0.0022 | 28 | c.*23 others(39): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 2002 | chr19 | TogoVar | ||||||
KLK11_chr19_51017236_51031616 | 51031595 | C | CATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG01943.hp2 HG01978.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0048a0001c0001t0002g0002others(3): Show | 9 | 456 | 0.0197 | 28 | c.-50 others(39): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4980 | chr19 | TogoVar | ||||||
KLK12_chr19_51024094_51040002 | 51031595 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01943.hp2 HG01978.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032a0001c0001t0002g0055a0001c0001t0002g0110others(2): Show | 8 | 448 | 0.0179 | 28 | c.457 others(43): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KLK5_chr19_50938303_50958038 | 50952179 | A | ATGTATAT others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(228): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(189): Show | 231 | 380 | 0.6079 | 28 | c.73+ others(41): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
KLK8_chr19_50991008_51006604 | 50991738 | G | GACTCCAT others(21): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 NA18956.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0054a0001c0001t0001g0159 | 3 | 420 | 0.0071 | 28 | c.*43 others(39): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 4269 | chr19 | TogoVar | ||||||
KLK8_chr19_50991008_51006604 | 50991738 | G | GACTCCAT others(21): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 420 | 0.0024 | 28 | c.*43 others(39): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 4269 | chr19 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607325 | C | CTTCTTTT others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0059a0001c0001t0004g0058 | 2 | 436 | 0.0046 | 28 | c.85+ others(41): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607325 | C | CTTCTTTT others(21): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 436 | 0.0023 | 28 | c.85+ others(41): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0174 | 1 | 436 | 0.0023 | 28 | c.85+ others(41): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 436 | 0.0023 | 28 | c.85+ others(41): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166 | 1 | 436 | 0.0023 | 28 | c.85+ others(41): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 436 | 0.0023 | 28 | c.85+ others(41): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG02155.hp1 HG03017.hp1 NA18942.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102a0002c0002t0001g0103a0002c0002t0001g0172others(1): Show | 4 | 436 | 0.0092 | 28 | c.85+ others(41): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02027.hp1 HG03017.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0161a0002c0002t0001g0158a0002c0002t0001g0159others(1): Show | 4 | 436 | 0.0092 | 28 | c.85+ others(41): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 436 | 0.0023 | 28 | c.85+ others(41): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02135.hp2 HG04204.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0215a0001c0001t0002g0216a0001c0001t0002g0217others(6): Show | 9 | 436 | 0.0206 | 28 | c.85+ others(41): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607355 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 2 | 436 | 0.0046 | 28 | c.85+ others(41): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRD1_chr12_10302870_10334608 | 10304449 | T | TTGCTCTT others(21): Show |
upstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0269 | a0001c0001t0269g0001 | 1 | 428 | 0.0023 | 28 | c.-36 others(39): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 3420 | chr12 | TogoVar | ||||||
KLRD1_chr12_10302870_10334608 | 10324818 | G | GTATATAT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0221 | a0001c0001t0221g0001 | 1 | 428 | 0.0023 | 28 | c.*10 others(41): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 6/6 | 10051 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
KLRF1_chr12_9822481_9850005 | 9833901 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 388 | 0.0026 | 28 | c.334 others(43): Show |
KLRF1 | ENSG00000150045.12 | transcript | ENST00000617889.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KMO_chr1_241527378_241600642 | 241549266 | A | AAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02056.hp2 HG02132.hp1 others(17): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0001g0206a0001c0001t0005g0101a0001c0001t0006g0288others(17): Show | 20 | 422 | 0.0474 | 28 | c.124 others(43): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KMO_chr1_241527378_241600642 | 241549266 | A | AAAGAAAG others(21): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0230 | 1 | 422 | 0.0024 | 28 | c.124 others(43): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KMT2C_chr7_152129925_152441003 | 152215688 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0027 | 1 | 172 | 0.0058 | 28 | c.371 others(47): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 23/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152235207 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG02293.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019a0002c0002t0002g0071a0002c0002t0002g0074others(1): Show | 4 | 172 | 0.0233 | 28 | c.276 others(45): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 16/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152235207 | G | GTATGTAT others(21): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0026 | 1 | 172 | 0.0058 | 28 | c.276 others(45): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 16/58 | chr7 | TogoVar |