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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLF15_chr3_126337635_126362408 | 126343152 | G | GCCCCCCC others(10): Show |
3_prime_UTR_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0010 | a0001c0010t0075 | a0001c0010t0075g0054 | 1 | 382 | 0.0026 | 17 | c.*57 others(26): Show |
KLF15 | ENSG00000163884.4 | transcript | ENST00000296233.4 | protein_coding | 3/3 | 574 | chr3 | TogoVar | ||||||
KLF15_chr3_126337635_126362408 | 126343154 | C | CCCCCACC others(10): Show |
3_prime_UTR_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0129 | a0001c0001t0129g0132 | 1 | 382 | 0.0026 | 17 | c.*57 others(26): Show |
KLF15 | ENSG00000163884.4 | transcript | ENST00000296233.4 | protein_coding | 3/3 | 572 | chr3 | TogoVar | ||||||
KLF16_chr19_1847399_1868579 | 1856950 | C | CGGGGGGG others(10): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02970.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0016a0002c0004t0005 | a0001c0002t0016g0130 a0002c0004t0005g0156 |
2 | 398 | 0.0050 | 17 | c.458 others(34): Show |
KLF16 | ENSG00000129911.9 | transcript | ENST00000250916.6 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
KLF16_chr19_1847399_1868579 | 1856963 | G | GGGGGGGG others(10): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0044 | 1 | 398 | 0.0025 | 17 | c.458 others(34): Show |
KLF16 | ENSG00000129911.9 | transcript | ENST00000250916.6 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
KLF17_chr1_44113821_44140140 | 44127630 | T | TTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0224 | 1 | 444 | 0.0023 | 17 | c.82- others(32): Show |
KLF17 | ENSG00000171872.5 | transcript | ENST00000372299.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KLF17_chr1_44113821_44140140 | 44127630 | T | TTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 NA19088.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0053 a0003c0003t0003g0066 |
3 | 444 | 0.0068 | 17 | c.82- others(32): Show |
KLF17 | ENSG00000171872.5 | transcript | ENST00000372299.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KLHDC10_chr7_130065534_130140705 | 130107843 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01433.hp1 HG02071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0184 a0001c0001t0009g0173 others(4): Show |
8 | 386 | 0.0207 | 17 | c.254 others(34): Show |
KLHDC10 | ENSG00000128607.14 | transcript | ENST00000335420.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KLHDC1_chr14_49688120_49758150 | 49693748 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 208 | 0.0048 | 17 | c.96+ others(30): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 208 | 0.0048 | 17 | c.*22 others(28): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | |||||||
KLHDC2_chr14_49763153_49791385 | 49766569 | A | ATTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00733.hp2 others(31): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(20): Show |
34 | 336 | 0.1012 | 17 | c.-19 others(28): Show |
KLHDC2 | ENSG00000165516.11 | transcript | ENST00000298307.10 | protein_coding | 1583 | chr14 | TogoVar | |||||||
KLHL13_chrX_117892813_118121810 | 118053895 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0002 | 1 | 207 | 0.0048 | 17 | c.-24 others(36): Show |
KLHL13 | ENSG00000003096.15 | transcript | ENST00000540167.6 | protein_coding | 1/7 | chrX | TogoVar | |||||||
KLHL14_chr18_32667673_32778023 | 32773926 | G | GTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 HG02896.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0003 | a0001c0001t0001g0084 a0001c0003t0001g0073 a0001c0003t0003g0074 |
3 | 204 | 0.0147 | 17 | c.-13 others(28): Show |
KLHL14 | ENSG00000197705.10 | transcript | ENST00000359358.9 | protein_coding | 904 | chr18 | TogoVar | |||||||
KLHL18_chr3_47277944_47351816 | 47324298 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG06807.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0048 |
2 | 338 | 0.0059 | 17 | c.401 others(34): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69903630 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 182 | 0.0055 | 17 | c.101 others(38): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 4/10 | chr13 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69983589 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0075 | 1 | 182 | 0.0055 | 17 | c.498 others(34): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
KLHL25_chr15_85754326_85799925 | 85797666 | G | GATGGCTG others(10): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0267 | 1 | 406 | 0.0025 | 17 | c.-29 others(28): Show |
KLHL25 | ENSG00000183655.13 | transcript | ENST00000337975.6 | protein_coding | 2742 | chr15 | TogoVar | |||||||
KLHL26_chr19_18632028_18676721 | 18642382 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0152 | 1 | 338 | 0.0030 | 17 | c.83+ others(32): Show |
KLHL26 | ENSG00000167487.12 | transcript | ENST00000300976.9 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
KLHL29_chr2_23380179_23713606 | 23541765 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0068 | 1 | 160 | 0.0063 | 17 | c.-45 others(36): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL31_chr6_53642916_53670756 | 53651399 | T | TAAAAAAA others(10): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0027others(2): Show | a0001c0001t0005g0005 a0001c0001t0005g0027 a0001c0001t0005g0037 others(20): Show |
35 | 420 | 0.0833 | 17 | c.*18 others(26): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 3/3 | 198 | chr6 | TogoVar | ||||||
KLHL32_chr6_96919728_97145753 | 96973730 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01884.hp1 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(13): Show | a0001c0001t0003g0005 a0001c0001t0004g0235 a0001c0001t0004g0237 others(18): Show |
21 | 244 | 0.0861 | 17 | c.24- others(32): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 NA18998.hp2 NA19077.hp2 others(1): Show |
a0001a0004a0006 | a0001c0001a0004c0003a0006c0006 | a0001c0001t0033a0001c0001t0136a0004c0003t0092others(1): Show | a0001c0001t0033g0307 a0001c0001t0136g0274 a0004c0003t0092g0211 others(1): Show |
4 | 480 | 0.0083 | 17 | c.*79 others(28): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 NA19054.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0074 | a0001c0001t0001g0003 a0003c0004t0074g0093 |
3 | 480 | 0.0063 | 17 | c.*79 others(28): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 NA18942.hp2 NA19084.hp1 |
a0001a0023 | a0001c0001a0023c0024 | a0001c0001t0001a0001c0001t0131a0023c0024t0062 | a0001c0001t0001g0007 a0001c0001t0131g0260 a0023c0024t0062g0092 |
3 | 480 | 0.0063 | 17 | c.*79 others(28): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0002 | a0002c0002t0100 | a0002c0002t0100g0154 | 1 | 480 | 0.0021 | 17 | c.*79 others(28): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20420875 | T | TATATATA others(10): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 480 | 0.0021 | 17 | c.*79 others(28): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4976 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20430791 | T | TACTCTAA others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp1 others(65): Show |
a0002a0005a0006others(4): Show | a0002c0002a0005c0005a0006c0020others(4): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0007others(23): Show | a0002c0002t0003g0028 a0002c0002t0003g0035 a0002c0002t0003g0135 others(50): Show |
68 | 480 | 0.1417 | 17 | c.749 others(30): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20432926 | A | AGAAAGAA others(10): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0002 | a0002c0002 | a0002c0002t0039 | a0002c0002t0039g0136 | 1 | 480 | 0.0021 | 17 | c.748 others(34): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
KLHL35_chr11_75417394_75438203 | 75435359 | G | GAGAGGCT others(10): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 420 | 0.0024 | 17 | c.-23 others(28): Show |
KLHL35 | ENSG00000149243.17 | transcript | ENST00000539798.3 | protein_coding | 2157 | chr11 | TogoVar | |||||||
KLHL35_chr11_75417394_75438203 | 75437979 | C | CCTGCTTG others(10): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 420 | 0.0024 | 17 | c.-49 others(28): Show |
KLHL35 | ENSG00000149243.17 | transcript | ENST00000539798.3 | protein_coding | 4777 | chr11 | TogoVar | |||||||
KLHL36_chr16_84643511_84672686 | 84644169 | A | AAGAAAGA others(10): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 448 | 0.0022 | 17 | c.-44 others(28): Show |
KLHL36 | ENSG00000135686.13 | transcript | ENST00000564996.6 | protein_coding | 4341 | chr16 | TogoVar | |||||||
KLHL36_chr16_84643511_84672686 | 84647300 | A | ATAAATAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 2 | 448 | 0.0045 | 17 | c.-13 others(28): Show |
KLHL36 | ENSG00000135686.13 | transcript | ENST00000564996.6 | protein_coding | 1210 | chr16 | TogoVar | |||||||
KLHL7_chr7_23100785_23182914 | 23146667 | T | TTCTTCTT others(10): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0006 a0001c0002t0007g0062 a0001c0002t0007g0063 |
4 | 328 | 0.0122 | 17 | c.793 others(34): Show |
KLHL7 | ENSG00000122550.18 | transcript | ENST00000339077.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KLK11_chr19_51017236_51031616 | 51018164 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 456 | 0.0022 | 17 | c.*43 others(28): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4071 | chr19 | TogoVar | |||||||
KLK1_chr19_50814146_50828787 | 50820284 | C | CATGAGGT others(10): Show |
frameshift_variant | HIGH | HG02300.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0024 | 1 | 422 | 0.0024 | 17 | c.349 others(24): Show |
p.Met others(5): Show |
KLK1 | ENSG00000167748.11 | transcript | ENST00000301420.3 | protein_coding | 3/5 | 404/876 | 365/789 | 122/262 | chr19 | TogoVar | |||
KLK4_chr19_50901351_50916395 | 50912372 | G | GAGGAGGG others(10): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01256.hp1 HG01258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0002g0003 others(3): Show |
11 | 414 | 0.0266 | 17 | c.-10 others(28): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 978 | chr19 | TogoVar | |||||||
KLK4_chr19_50901351_50916395 | 50912401 | G | GCGGGTAG others(10): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 414 | 0.0024 | 17 | c.-10 others(28): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 1007 | chr19 | TogoVar | |||||||
KLK5_chr19_50938303_50958038 | 50957380 | C | CCACTCTG others(10): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 380 | 0.0026 | 17 | c.-46 others(28): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 4343 | chr19 | TogoVar | |||||||
KLKB1_chr4_186222507_186263471 | 186235350 | T | TTTTCTAA others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(254): Show |
a0001a0003a0005others(8): Show | a0001c0001a0001c0006a0001c0015others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(178): Show |
257 | 432 | 0.5949 | 17 | c.328 others(34): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KLLN_chr10_87854158_87868533 | 87858636 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG02683.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0011g0000 others(1): Show |
4 | 430 | 0.0093 | 17 | c.*33 others(28): Show |
KLLN | ENSG00000227268.5 | transcript | ENST00000445946.5 | protein_coding | 521 | chr10 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607418 | T | TTTTCTTT others(10): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0361 | 1 | 436 | 0.0023 | 17 | c.85+ others(30): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KL_chr13_33011423_33071143 | 33068407 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 396 | 0.0025 | 17 | c.*42 others(28): Show |
KL | ENSG00000133116.8 | transcript | ENST00000380099.4 | protein_coding | 2265 | chr13 | TogoVar | |||||||
KMO_chr1_241527378_241600642 | 241539383 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG03017.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0010a0001c0001t0074others(1): Show | a0001c0001t0007g0037 a0001c0001t0010g0036 a0001c0001t0074g0038 others(1): Show |
4 | 422 | 0.0095 | 17 | c.54+ others(32): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152147724 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0006 | a0006c0027 | a0006c0027t0001 | a0006c0027t0001g0016 | 1 | 172 | 0.0058 | 17 | c.138 others(36): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 52/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152308673 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 172 | 0.0058 | 17 | c.849 others(34): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152385611 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0136 | 1 | 172 | 0.0058 | 17 | c.162 others(36): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152391142 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 172 | 0.0058 | 17 | c.162 others(36): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | |||||||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 NA18747.hp1 NA18943.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0001g0141 others(2): Show |
5 | 304 | 0.0165 | 17 | c.498 others(34): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 304 | 0.0033 | 17 | c.498 others(34): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0153 | 1 | 304 | 0.0033 | 17 | c.498 others(34): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105071609 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0286 | 1 | 304 | 0.0033 | 17 | c.498 others(34): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | chr7 | TogoVar |