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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLK15_chr19_50820289_50838574 | 50821465 | GAGAGGAA others(16): Show |
G | downstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0096 | 1 | 442 | 0.0023 | -23 | c.*43 others(34): Show |
KLK15 | ENSG00000174562.14 | transcript | ENST00000598239.6 | protein_coding | 3823 | chr19 | TogoVar | ||||||
KLK1_chr19_50814146_50828787 | 50821465 | GAGAGGAA others(16): Show |
G | intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 422 | 0.0024 | -23 | c.206 others(38): Show |
KLK1 | ENSG00000167748.11 | transcript | ENST00000301420.3 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
KLK8_chr19_50991008_51006604 | 50999583 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 420 | 0.0024 | -23 | c.493 others(38): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KLK8_chr19_50991008_51006604 | 51004338 | CAAAAAAA others(16): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 420 | 0.0024 | -23 | c.-28 others(34): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 2735 | chr19 | TogoVar | ||||||
KLK9_chr19_50997508_51014592 | 50999583 | CAAAAAAA others(16): Show |
C | downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 438 | 0.0023 | -23 | c.*35 others(34): Show |
KLK9 | ENSG00000213022.6 | transcript | ENST00000594211.2 | protein_coding | 2924 | chr19 | TogoVar | ||||||
KLK9_chr19_50997508_51014592 | 51004338 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0139 | 1 | 438 | 0.0023 | -23 | c.467 others(38): Show |
KLK9 | ENSG00000213022.6 | transcript | ENST00000594211.2 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
KLRC3_chr12_10407315_10425595 | 10423355 | AAAAAAAA others(16): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 3 | 448 | 0.0067 | -23 | c.-28 others(34): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 2761 | chr12 | TogoVar | ||||||
KLRC3_chr12_10407315_10425595 | 10423357 | AAAAAAAA others(16): Show |
A | upstream_gene_variant | MODIFIER | HG02976.hp2 NA18941.hp1 NA18993.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0055 | 8 | 448 | 0.0179 | -23 | c.-28 others(34): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 2763 | chr12 | TogoVar | ||||||
KLRC3_chr12_10407315_10425595 | 10423359 | AAAAAAAA others(16): Show |
A | upstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 448 | 0.0022 | -23 | c.-28 others(34): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 2765 | chr12 | TogoVar | ||||||
KLRD1_chr12_10302870_10334608 | 10316516 | CCTCAGCC others(16): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01993.hp2 HG02896.hp1 HG02897.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0016a0002c0002t0057a0002c0002t0058others(1): Show | a0002c0002t0016g0010a0002c0002t0057g0010a0002c0002t0058g0010others(1): Show | 6 | 428 | 0.0140 | -23 | c.*17 others(34): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 6/6 | 1729 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
KL_chr13_33011423_33071143 | 33024111 | CAAGACAT others(16): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp1 others(27): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0003a0001c0008others(9): Show | a0001c0002t0001a0001c0003t0009a0001c0008t0015others(9): Show | a0001c0002t0001g0245a0001c0002t0001g0246a0001c0003t0009g0247others(23): Show | 30 | 396 | 0.0758 | -23 | c.819 others(40): Show |
KL | ENSG00000133116.8 | transcript | ENST00000380099.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
KMT2A_chr11_118431492_118531832 | 118531368 | AGAACAGG others(16): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0025 | a0001c0025t0014 | a0001c0025t0014g0057 | 1 | 200 | 0.0050 | -23 | c.*91 others(34): Show |
KMT2A | ENSG00000118058.25 | transcript | ENST00000534358.8 | protein_coding | 4537 | chr11 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152218681 | CATCACCT others(16): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0053 | 1 | 172 | 0.0058 | -23 | c.371 others(42): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 23/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152290280 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0061 | 1 | 172 | 0.0058 | -23 | c.850 others(42): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152290282 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02647.hp2 |
a0002a0005 | a0002c0007a0005c0025a0005c0037 | a0002c0007t0002a0005c0025t0001a0005c0037t0001 | a0002c0007t0002g0017a0005c0025t0001g0016a0005c0037t0001g0015 | 3 | 172 | 0.0174 | -23 | c.850 others(42): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152290286 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0167 | 1 | 172 | 0.0058 | -23 | c.850 others(42): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133185215 | GTAGGCAG others(16): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02970.hp1 NA20300.hp2 |
a0001a0019 | a0001c0008a0019c0040 | a0001c0008t0008a0019c0040t0008 | a0001c0008t0008g0260a0001c0008t0008g0261a0019c0040t0008g0257 | 3 | 332 | 0.0090 | -23 | c.626 others(38): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KNDC1_chr10_133155219_133231412 | 133185235 | GGAATAGG others(16): Show |
G | intron_variant | MODIFIER | HG01928.hp1 HG02559.hp1 |
a0016 | a0016c0029 | a0016c0029t0002a0016c0029t0021 | a0016c0029t0002g0150a0016c0029t0021g0151 | 2 | 332 | 0.0060 | -23 | c.626 others(38): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KNDC1_chr10_133155219_133231412 | 133185343 | GCAGTGTG others(16): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG00735.hp1 others(14): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0158a0001c0001t0001g0168others(13): Show | 17 | 332 | 0.0512 | -23 | c.626 others(38): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KNDC1_chr10_133155219_133231412 | 133185442 | GGAATAGG others(16): Show |
G | intron_variant | MODIFIER | HG01928.hp1 HG02559.hp1 HG02809.hp2 |
a0002a0016 | a0002c0006a0016c0029 | a0002c0006t0029a0016c0029t0002a0016c0029t0021 | a0002c0006t0029g0279a0016c0029t0002g0150a0016c0029t0021g0151 | 3 | 332 | 0.0090 | -23 | c.626 others(38): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KNG1_chr3_186712359_186749410 | 186730670 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0007 | a0007c0027 | a0007c0027t0044 | a0007c0027t0044g0163 | 1 | 430 | 0.0023 | -23 | c.673 others(38): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KNG1_chr3_186712359_186749410 | 186730678 | AAAAAAAT others(16): Show |
A | intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0225 | 1 | 430 | 0.0023 | -23 | c.673 others(38): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KNL1_chr15_40589249_40669342 | 40617975 | TAAAAAAA others(16): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 370 | 0.0027 | -23 | c.323 others(38): Show |
KNL1 | ENSG00000137812.21 | transcript | ENST00000399668.7 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
KNTC1_chr12_122522249_122631396 | 122579025 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG03942.hp1 NA18952.hp2 NA18970.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0091a0001c0002t0001g0101a0003c0004t0001g0025 | 3 | 320 | 0.0094 | -23 | c.284 others(40): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 31/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KPNA3_chr13_49694320_49797682 | 49704419 | AAAATAAA others(16): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0025a0001c0001t0004g0249 | 2 | 376 | 0.0053 | -23 | c.137 others(42): Show |
KPNA3 | ENSG00000102753.10 | transcript | ENST00000261667.8 | protein_coding | 15/16 | chr13 | TogoVar | ||||||
KPNA6_chr1_32103056_32181563 | 32141375 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG02148.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0100 | 2 | 244 | 0.0082 | -23 | c.5-1 others(38): Show |
KPNA6 | ENSG00000025800.14 | transcript | ENST00000373625.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KPNA7_chr7_99168572_99213115 | 99187799 | TAAAAAAA others(16): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0078a0001c0004t0001g0076a0001c0004t0001g0320others(1): Show | 4 | 334 | 0.0120 | -23 | c.900 others(38): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 7/10 | chr7 | TogoVar | ||||||
KPNA7_chr7_99168572_99213115 | 99207207 | GTATTTTT others(16): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0302 | 1 | 334 | 0.0030 | -23 | c.66+ others(36): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
KRT24_chr17_40692991_40708752 | 40700590 | TTTTTTCT others(16): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 424 | 0.0024 | -23 | c.856 others(38): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 3/7 | chr17 | TogoVar | ||||||
KRTAP10-1_chr21_44533981_44545195 | 44534281 | TTGTGTGA others(16): Show |
T | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03540.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0000a0007c0010t0001g0000 | 5 | 438 | 0.0114 | -23 | c.*49 others(34): Show |
KRTAP10-1 | ENSG00000215455.4 | transcript | ENST00000400375.1 | protein_coding | 4699 | chr21 | TogoVar | ||||||
KRTAP27-1_chr21_30332013_30342694 | 30334508 | TGATAGAT others(16): Show |
T | downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 420 | 0.0024 | -23 | c.*25 others(34): Show |
KRTAP27-1 | ENSG00000206107.2 | transcript | ENST00000382835.2 | protein_coding | 2504 | chr21 | TogoVar | ||||||
KRTAP5-1_chr11_1579342_1590283 | 1581175 | AGGACCGT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 429 | 0.0023 | -23 | c.*32 others(34): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 3166 | chr11 | TogoVar | ||||||
KRTAP5-1_chr11_1579342_1590283 | 1581268 | AGGACCGT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG02647.hp2 others(5): Show |
a0002a0003a0014 | a0002c0002a0003c0003a0014c0007 | a0002c0002t0001a0003c0003t0001a0014c0007t0001 | a0002c0002t0001g0000a0003c0003t0001g0000a0014c0007t0001g0000 | 8 | 429 | 0.0187 | -23 | c.*31 others(34): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 3073 | chr11 | TogoVar | ||||||
KRTAP5-1_chr11_1579342_1590283 | 1581455 | AAGGACCG others(16): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG02647.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 5 | 429 | 0.0117 | -23 | c.*29 others(34): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 2886 | chr11 | TogoVar | ||||||
KRTAP5-1_chr11_1579342_1590283 | 1581628 | ATCTGTAT others(16): Show |
A | downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 429 | 0.0023 | -23 | c.*27 others(34): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 2713 | chr11 | TogoVar | ||||||
KRTAP9-3_chr17_41227449_41238454 | 41235922 | GAAAGAAA others(16): Show |
G | downstream_gene_variant | MODIFIER | HG01346.hp1 HG02602.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 439 | 0.0068 | -23 | c.*29 others(34): Show |
KRTAP9-3 | ENSG00000204873.5 | transcript | ENST00000411528.4 | protein_coding | 2469 | chr17 | TogoVar | ||||||
KRTAP9-8_chr17_41232999_41244004 | 41235922 | GAAAGAAA others(16): Show |
G | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01346.hp1 HG02602.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 435 | 0.0092 | -23 | c.-21 others(34): Show |
KRTAP9-8 | ENSG00000187272.7 | transcript | ENST00000254072.7 | protein_coding | 2076 | chr17 | TogoVar | ||||||
KTN1_chr14_55575207_55689579 | 55609833 | ACTGCCCA others(16): Show |
A | 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 | -23 | c.-30 others(40): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KYNU_chr2_142872664_143060833 | 142872723 | GCAGTGGG others(16): Show |
G | upstream_gene_variant | MODIFIER | NA19043.hp2 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0087a0002c0002t0047 | a0001c0001t0087g0282a0002c0002t0047g0280 | 2 | 332 | 0.0060 | -23 | c.-50 others(34): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 4940 | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 142905200 | CGAAATAT others(16): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01346.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0002g0127a0001c0001t0002g0137a0001c0001t0002g0305others(17): Show | 20 | 332 | 0.0602 | -23 | c.170 others(42): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
L1CAM_chrX_153856516_153891173 | 153860507 | CTTTCTTT others(16): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0028 | a0002c0028t0002 | a0002c0028t0002g0153 | 1 | 283 | 0.0035 | -23 | c.*21 others(34): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 1008 | chrX | TogoVar | ||||||
L2HGDH_chr14_50237434_50317229 | 50249882 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0039 | a0001c0001t0032g0188a0001c0001t0032g0189a0001c0001t0039g0200others(1): Show | 4 | 360 | 0.0111 | -23 | c.119 others(42): Show |
L2HGDH | ENSG00000087299.12 | transcript | ENST00000267436.9 | protein_coding | 9/9 | chr14 | TogoVar | ||||||
L3MBTL1_chr20_43502697_43546895 | 43525743 | GTCCTCAC others(16): Show |
G | intron_variant | MODIFIER | NA18947.hp2 NA18960.hp2 NA18967.hp2 others(12): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0001a0006c0010t0001 | a0002c0002t0001g0008a0002c0002t0001g0275a0002c0002t0001g0276others(8): Show | 15 | 422 | 0.0356 | -23 | c.863 others(40): Show |
L3MBTL1 | ENSG00000185513.18 | transcript | ENST00000418998.7 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129520373 | TAAAAAAA others(16): Show |
T | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0021 | 1 | 88 | 0.0114 | -23 | c.*40 others(34): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3808 | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62313950 | GAGAGACG others(16): Show |
G | intron_variant | MODIFIER | HG01884.hp1 NA18522.hp2 |
a0025 | a0025c0016 | a0025c0016t0001 | a0025c0016t0001g0029a0025c0016t0001g0030 | 2 | 186 | 0.0108 | -23 | c.850 others(40): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 62/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62322239 | TCCGCCCT others(16): Show |
T | splice_region_variant others(1): Show |
LOW | HG01256.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0132 | 1 | 186 | 0.0054 | -23 | c.634 others(37): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 47/79 | chr20 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183079232 | GTTTTTTT others(16): Show |
G | intron_variant | MODIFIER | HG02071.hp1 | a0008 | a0008c0029 | a0008c0029t0002 | a0008c0029t0002g0075 | 1 | 308 | 0.0033 | -23 | c.419 others(42): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LAMC3_chr9_131004174_131099473 | 131051798 | CACTGGGA others(16): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(158): Show |
a0001a0006a0007others(51): Show | a0001c0004a0001c0011a0001c0013others(106): Show | a0001c0004t0001a0001c0004t0020a0001c0011t0001others(114): Show | a0001c0004t0001g0062a0001c0004t0001g0105a0001c0004t0001g0107others(158): Show | 161 | 360 | 0.4472 | -23 | c.163 others(40): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LAMP1_chr13_113292239_113328672 | 113301639 | AAAAAAAT others(16): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01952.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0001g0220a0001c0001t0001g0221a0001c0001t0001g0303others(3): Show | 7 | 354 | 0.0198 | -23 | c.61+ others(38): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LAMP1_chr13_113292239_113328672 | 113301641 | AAAAATAT others(16): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0311 | 1 | 354 | 0.0028 | -23 | c.61+ others(38): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |