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 | 69818219 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0030 | 1 | 182 | 0.0055 | 25 | c.141 others(46): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69955996 | G | GATATATA others(18): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0095 | 1 | 182 | 0.0055 | 25 | c.817 others(42): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
KLHL22_chr22_20436519_20500795 | 20488681 | A | AGGGAGGG others(18): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(128): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0084a0001c0001t0001g0126a0001c0001t0001g0148others(125): Show | 131 | 340 | 0.3853 | 25 | c.227 others(40): Show |
KLHL22 | ENSG00000099910.17 | transcript | ENST00000328879.9 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169738841 | C | CCCTCCCC others(18): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 400 | 0.0025 | 25 | c.121 others(44): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL23_chr2_169728832_169756878 | 169747389 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18952.hp1 NA18992.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0023 | a0001c0001t0006g0015a0001c0001t0006g0041a0001c0001t0006g0045others(3): Show | 7 | 400 | 0.0175 | 25 | c.136 others(44): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL29_chr2_23380179_23713606 | 23633756 | C | CTGTGTGT others(18): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0006 | a0001c0001t0001g0072a0001c0006t0006g0078 | 2 | 160 | 0.0125 | 25 | c.286 others(42): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 3/13 | chr2 | TogoVar | ||||||
KLHL31_chr6_53642916_53670756 | 53665943 | A | AAAAAGAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 NA18944.hp1 |
a0001a0002 | a0001c0002a0002c0009 | a0001c0002t0010a0002c0009t0043 | a0001c0002t0010g0053a0002c0009t0043g0086 | 2 | 420 | 0.0048 | 25 | c.-37 others(34): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 188 | chr6 | TogoVar | ||||||
KLHL32_chr6_96919728_97145753 | 97055796 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01261.hp1 HG01884.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0086a0001c0001t0002g0093a0001c0001t0006g0118others(3): Show | 6 | 244 | 0.0246 | 25 | c.313 others(42): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(18): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 NA19067.hp2 |
a0004a0005 | a0004c0003a0005c0046 | a0004c0003t0002a0005c0046t0046 | a0004c0003t0002g0213a0005c0046t0046g0211 | 2 | 480 | 0.0042 | 25 | c.*79 others(36): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | ||||||
KLHL33_chr14_20420852_20441166 | 20432926 | A | AGAAAGAA others(18): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0013 | a0013c0014 | a0013c0014t0003 | a0013c0014t0003g0337 | 1 | 480 | 0.0021 | 25 | c.748 others(42): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
KLHL4_chrX_87512802_87675050 | 87611659 | C | CATACTAT others(18): Show |
intron_variant | MODIFIER | HG02683.hp2 NA19060.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0173a0001c0001t0001g0176a0001c0003t0001g0201 | 3 | 259 | 0.0116 | 25 | c.423 others(42): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KLHL6_chr3_183482551_183560706 | 183525265 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0018 | 1 | 298 | 0.0034 | 25 | c.459 others(42): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
KLHL7_chr7_23100785_23182914 | 23180401 | C | CTAGAATA others(18): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0026 | 1 | 328 | 0.0031 | 25 | c.*61 others(36): Show |
KLHL7 | ENSG00000122550.18 | transcript | ENST00000339077.10 | protein_coding | 2488 | chr7 | TogoVar | ||||||
KLK4_chr19_50901351_50916395 | 50903067 | C | CGGGTTCA others(18): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(124): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0002g0049a0001c0001t0002g0109a0001c0001t0002g0113others(47): Show | 127 | 414 | 0.3068 | 25 | c.*38 others(36): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 3283 | chr19 | TogoVar | ||||||
KLK5_chr19_50938303_50958038 | 50945792 | A | AAAAAGAA others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(126): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(95): Show | 129 | 380 | 0.3395 | 25 | c.727 others(42): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
KL_chr13_33011423_33071143 | 33019567 | G | GGCCCTTG others(18): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0230 | 1 | 396 | 0.0025 | 25 | c.819 others(42): Show |
KL | ENSG00000133116.8 | transcript | ENST00000380099.4 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152249673 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 | 1 | 172 | 0.0058 | 25 | c.181 others(42): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 13/58 | chr7 | TogoVar | ||||||
KNOP1_chr16_19696937_19723227 | 19707886 | C | CCCCCCAC others(18): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01175.hp2 HG01891.hp2 others(23): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0018a0001c0002t0019others(1): Show | a0001c0002t0004g0005a0001c0002t0004g0035a0001c0002t0004g0075others(8): Show | 26 | 372 | 0.0699 | 25 | c.106 others(42): Show |
KNOP1 | ENSG00000103550.14 | transcript | ENST00000219837.12 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
KPNA1_chr3_122416902_122519939 | 122430544 | G | GTGTGTGT others(18): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 400 | 0.0025 | 25 | c.125 others(44): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
KPNA4_chr3_160490007_160570571 | 160519801 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0157 | 1 | 308 | 0.0033 | 25 | c.903 others(42): Show |
KPNA4 | ENSG00000186432.10 | transcript | ENST00000334256.9 | protein_coding | 11/16 | chr3 | TogoVar | ||||||
KPNA5_chr6_116676211_116746867 | 116710894 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03669.hp2 NA18999.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0041 | a0001c0001t0002g0023a0001c0001t0002g0070a0001c0001t0002g0071others(1): Show | 4 | 344 | 0.0116 | 25 | c.657 others(42): Show |
KPNA5 | ENSG00000196911.12 | transcript | ENST00000368564.7 | protein_coding | 7/13 | chr6 | TogoVar | ||||||
KPNB1_chr17_47644919_47690505 | 47675361 | G | GTTTTTGT others(18): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0168 | 1 | 384 | 0.0026 | 25 | c.191 others(42): Show |
KPNB1 | ENSG00000108424.11 | transcript | ENST00000290158.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KRAS_chr12_25200246_25255929 | 25202063 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 346 | 0.0029 | 25 | c.*78 others(36): Show |
KRAS | ENSG00000133703.14 | transcript | ENST00000256078.10 | protein_coding | 3182 | chr12 | TogoVar | ||||||
KRAS_chr12_25200246_25255929 | 25218342 | T | TTCTAAAA others(18): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0037a0001c0001t0041 | a0001c0001t0016g0091a0001c0001t0016g0092a0001c0001t0016g0094others(3): Show | 6 | 346 | 0.0173 | 25 | c.451 others(42): Show |
KRAS | ENSG00000133703.14 | transcript | ENST00000256078.10 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
KRBA2_chr17_8353822_8381704 | 8374937 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA19062.hp2 NA19081.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 2 | 388 | 0.0052 | 25 | c.-21 others(40): Show |
KRBA2 | ENSG00000184619.8 | transcript | ENST00000396267.3 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
KRI1_chr19_10548085_10571010 | 10570547 | C | CAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp1 NA18944.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(4): Show | 15 | 406 | 0.0370 | 25 | c.-45 others(36): Show |
KRI1 | ENSG00000129347.21 | transcript | ENST00000312962.12 | protein_coding | 4538 | chr19 | TogoVar | ||||||
KRT18_chr12_52944118_52957906 | 52953837 | A | ATTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 406 | 0.0025 | 25 | c.*99 others(34): Show |
KRT18 | ENSG00000111057.11 | transcript | ENST00000388835.4 | protein_coding | 932 | chr12 | TogoVar | ||||||
KRT23_chr17_40917700_40942646 | 40942313 | T | TCCTCCTC others(18): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(175): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0135others(84): Show | 178 | 437 | 0.4073 | 25 | c.-53 others(36): Show |
KRT23 | ENSG00000108244.17 | transcript | ENST00000209718.8 | protein_coding | 4668 | chr17 | TogoVar | ||||||
KRT23_chr17_40917700_40942646 | 40942320 | C | CCCCCTCC others(18): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0087 | 1 | 437 | 0.0023 | 25 | c.-53 others(36): Show |
KRT23 | ENSG00000108244.17 | transcript | ENST00000209718.8 | protein_coding | 4675 | chr17 | TogoVar | ||||||
KRT31_chr17_41388721_41402608 | 41398912 | T | TATATATA others(18): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02258.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0006t0004a0002c0002t0005others(1): Show | a0001c0001t0002g0005a0001c0006t0004g0017a0002c0002t0005g0004others(1): Show | 8 | 453 | 0.0177 | 25 | c.-13 others(36): Show |
KRT31 | ENSG00000094796.5 | transcript | ENST00000251645.3 | protein_coding | 1305 | chr17 | TogoVar | ||||||
KRTAP10-7_chr21_44595597_44607174 | 44599134 | T | TCTCTCTC others(18): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 446 | 0.0045 | 25 | c.-14 others(36): Show |
KRTAP10-7 | ENSG00000272804.3 | transcript | ENST00000609664.2 | protein_coding | 1462 | chr21 | TogoVar | ||||||
KRTAP10-7_chr21_44595597_44607174 | 44599139 | T | TCTCTCTC others(18): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 446 | 0.0022 | 25 | c.-14 others(36): Show |
KRTAP10-7 | ENSG00000272804.3 | transcript | ENST00000609664.2 | protein_coding | 1457 | chr21 | TogoVar | ||||||
KRTAP2-1_chr17_41041541_41052316 | 41051250 | A | ATAATATA others(18): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 HG02970.hp2 HG03139.hp2 others(1): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0003a0004c0004t0003a0004c0004t0011 | a0003c0003t0003g0000a0004c0004t0003g0000a0004c0004t0011g0000 | 4 | 407 | 0.0098 | 25 | c.-39 others(36): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3935 | chr17 | TogoVar | ||||||
KRTAP2-2_chr17_41049498_41060230 | 41051250 | A | ATAATATA others(18): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 HG02970.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0004 | a0001c0001t0002g0000a0004c0005t0004g0000 | 2 | 411 | 0.0049 | 25 | c.*35 others(36): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3247 | chr17 | TogoVar | ||||||
KRTAP4-11_chr17_41112181_41123373 | 41121825 | A | AAAGGGAA others(18): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 1 | 427 | 0.0023 | 25 | c.-35 others(36): Show |
KRTAP4-11 | ENSG00000212721.4 | transcript | ENST00000391413.4 | protein_coding | 3453 | chr17 | TogoVar | ||||||
KRTAP4-12_chr17_41118091_41129182 | 41121825 | A | AAAGGGAA others(18): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 423 | 0.0024 | 25 | c.*16 others(36): Show |
KRTAP4-12 | ENSG00000213416.4 | transcript | ENST00000394014.2 | protein_coding | 1265 | chr17 | TogoVar | ||||||
KSR1_chr17_27451448_27631435 | 27525991 | A | ACTTTTCT others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0231a0001c0001t0002g0022a0001c0001t0002g0024others(15): Show | 18 | 246 | 0.0732 | 25 | c.232 others(44): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KSR2_chr12_117448012_117973990 | 117607654 | A | AAGGAGAG others(18): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03041.hp2 NA20129.hp2 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0021a0001c0003t0140a0001c0011t0098 | a0001c0003t0021g0115a0001c0003t0140g0180a0001c0011t0098g0167 | 3 | 196 | 0.0153 | 25 | c.117 others(46): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117812842 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18975.hp2 NA19081.hp2 |
a0001 | a0001c0002a0001c0004a0001c0014 | a0001c0002t0040a0001c0004t0082a0001c0014t0072 | a0001c0002t0040g0024a0001c0004t0082g0078a0001c0014t0072g0064 | 3 | 196 | 0.0153 | 25 | c.472 others(44): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117971094 | C | CAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0080 | 1 | 196 | 0.0051 | 25 | c.-28 others(36): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 2105 | chr12 | TogoVar | ||||||
KTN1_chr14_55575207_55689579 | 55613639 | G | GTGTGCTA others(18): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01074.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0016others(2): Show | a0001c0002t0003a0002c0003t0003a0003c0016t0003others(2): Show | a0001c0002t0003g0175a0001c0002t0003g0176a0001c0002t0003g0177others(19): Show | 22 | 314 | 0.0701 | 25 | c.523 others(42): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 2/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KTN1_chr14_55575207_55689579 | 55646460 | T | TTTTCCTT others(18): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01993.hp2 HG03516.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0115a0001c0001t0001g0124a0001c0001t0001g0159others(5): Show | 8 | 314 | 0.0255 | 25 | c.217 others(42): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 326 | 0.0031 | 25 | c.-7+ others(42): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATTTTT others(18): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 326 | 0.0031 | 25 | c.-7+ others(42): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62197397 | T | TTTATATA others(18): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0007 | a0002c0007t0009 | a0002c0007t0009g0366 | 1 | 414 | 0.0024 | 25 | c.-11 others(42): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
L1TD1_chr1_62189849_62217328 | 62205443 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0009 | a0009c0012 | a0009c0012t0017 | a0009c0012t0017g0034 | 1 | 414 | 0.0024 | 25 | c.-11 others(44): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
L3MBTL1_chr20_43502697_43546895 | 43522457 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 422 | 0.0024 | 25 | c.863 others(42): Show |
L3MBTL1 | ENSG00000185513.18 | transcript | ENST00000418998.7 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
L3MBTL4_chr18_5949717_6419911 | 6072865 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 NA19043.hp2 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0002a0002c0002t0001a0005c0010t0002 | a0001c0001t0002g0047a0002c0002t0001g0013a0005c0010t0002g0089 | 3 | 94 | 0.0319 | 25 | c.144 others(44): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6185960 | C | CTTTATTT others(18): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02809.hp2 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0005a0001c0004t0006a0002c0002t0001 | a0001c0001t0005g0040a0001c0001t0005g0057a0001c0004t0006g0087others(1): Show | 4 | 94 | 0.0426 | 25 | c.982 others(44): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 12/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6222949 | T | TTATAATA others(18): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0050 | 1 | 94 | 0.0106 | 25 | c.785 others(42): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 10/18 | chr18 | TogoVar |