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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIF4A_chrX_70285104_70425886 | 70347974 | C | CAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 259 | 0.0039 | 45 | c.143 others(64): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KIF6_chr6_39324990_39730408 | 39346132 | C | CCTCTCTC others(38): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0117 | 1 | 174 | 0.0058 | 45 | c.223 others(62): Show |
KIF6 | ENSG00000164627.18 | transcript | ENST00000287152.12 | protein_coding | 20/22 | chr6 | TogoVar | ||||||
KIRREL1_chr1_157988645_158105262 | 158055426 | G | GCTACAAC others(38): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 288 | 0.0035 | 45 | c.53- others(62): Show |
KIRREL1 | ENSG00000183853.18 | transcript | ENST00000359209.11 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
KLF17_chr1_44113821_44140140 | 44139048 | T | TCTGGTTA others(38): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(377): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0009others(11): Show | a0001c0001t0001a0001c0001t0013a0002c0002t0002others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0011others(245): Show | 380 | 444 | 0.8559 | 45 | c.*58 others(56): Show |
KLF17 | ENSG00000171872.5 | transcript | ENST00000372299.4 | protein_coding | 3909 | chr1 | TogoVar | ||||||
KLF17_chr1_44113821_44140140 | 44139048 | T | TCTGGTTA others(38): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0072 | 1 | 444 | 0.0023 | 45 | c.*58 others(56): Show |
KLF17 | ENSG00000171872.5 | transcript | ENST00000372299.4 | protein_coding | 3909 | chr1 | TogoVar | ||||||
KLF18_chr1_44132821_44146631 | 44139048 | T | TCTGGTTA others(38): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(369): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0007a0001c0011others(25): Show | a0001c0001t0000a0001c0007t0000a0001c0011t0000others(25): Show | a0001c0001t0000g0001a0001c0001t0000g0026a0001c0007t0000g0007others(27): Show | 372 | 428 | 0.8692 | 45 | c.258 others(54): Show |
p.Gln others(58): Show |
KLF18 | ENSG00000283039.1 | transcript | ENST00000634670.1 | protein_coding | 1/2 | 2583/3159 | 2583/3159 | 861/1052 | chr1 | TogoVar | ||
KLF18_chr1_44132821_44146631 | 44139048 | T | TCTGGTTA others(38): Show |
conservative_inframe_insertion | MODERATE | NA18939.hp1 | a0028 | a0028c0027 | a0028c0027t0000 | a0028c0027t0000g0028 | 1 | 428 | 0.0023 | 45 | c.258 others(54): Show |
p.Gln others(58): Show |
KLF18 | ENSG00000283039.1 | transcript | ENST00000634670.1 | protein_coding | 1/2 | 2583/3159 | 2583/3159 | 861/1052 | chr1 | TogoVar | ||
KLF18_chr1_44132821_44146631 | 44139048 | T | TCTGGTTA others(38): Show |
conservative_inframe_insertion | MODERATE | HG02523.hp1 | a0004 | a0004c0026 | a0004c0026t0000 | a0004c0026t0000g0027 | 1 | 428 | 0.0023 | 45 | c.258 others(54): Show |
p.Gln others(58): Show |
KLF18 | ENSG00000283039.1 | transcript | ENST00000634670.1 | protein_coding | 1/2 | 2583/3159 | 2583/3159 | 861/1052 | chr1 | TogoVar | ||
KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAAAAAA others(38): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 208 | 0.0048 | 45 | c.*22 others(56): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | ||||||
KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAAAAAT others(38): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 208 | 0.0048 | 45 | c.*22 others(56): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87706222 | C | CGGGGGGG others(38): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 380 | 0.0026 | 45 | c.*18 others(56): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 1589 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87706229 | G | GGGGTCAG others(38): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01884.hp2 HG03490.hp1 others(3): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0003c0030others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0030t0001others(1): Show | a0001c0001t0001g0188a0001c0001t0001g0189a0003c0003t0001g0308others(3): Show | 6 | 380 | 0.0158 | 45 | c.*18 others(56): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 1582 | chr16 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 70094393 | T | TATATATA others(38): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0075 | 1 | 182 | 0.0055 | 45 | c.497 others(64): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
KLK5_chr19_50938303_50958038 | 50949732 | A | ACCCCCAA others(38): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03225.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0047a0001c0001t0004g0048a0001c0001t0008g0043 | 3 | 380 | 0.0079 | 45 | c.335 others(60): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
KLK7_chr19_50971468_50988917 | 50974964 | C | CCTGAGGG others(38): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02055.hp1 HG02258.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010a0001c0001t0004g0051a0001c0001t0004g0084others(2): Show | 10 | 384 | 0.0260 | 45 | c.*25 others(56): Show |
KLK7 | ENSG00000169035.12 | transcript | ENST00000595820.6 | protein_coding | 1503 | chr19 | TogoVar | ||||||
KLK7_chr19_50971468_50988917 | 50975115 | G | GGGGGGGT others(38): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02055.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010a0001c0001t0004g0051a0001c0001t0004g0084others(2): Show | 9 | 384 | 0.0234 | 45 | c.*24 others(56): Show |
KLK7 | ENSG00000169035.12 | transcript | ENST00000595820.6 | protein_coding | 1352 | chr19 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607415 | T | TTCTTTCT others(38): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 436 | 0.0023 | 45 | c.85+ others(58): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152384555 | C | CACTACCA others(38): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0013 | a0013c0023 | a0013c0023t0011 | a0013c0023t0011g0057 | 1 | 172 | 0.0058 | 45 | c.162 others(64): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152384558 | C | CACCACCA others(38): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0069 | 1 | 172 | 0.0058 | 45 | c.162 others(64): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152384561 | C | CACCACCA others(38): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 | 1 | 172 | 0.0058 | 45 | c.162 others(64): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105087284 | G | GATATAAT others(38): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0241 | 1 | 304 | 0.0033 | 45 | c.135 others(64): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KNL1_chr15_40589249_40669342 | 40663105 | G | GCTGGAGT others(38): Show |
3_prime_UTR_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0022 | a0002c0022t0015 | a0002c0022t0015g0006 | 1 | 370 | 0.0027 | 45 | c.*92 others(54): Show |
KNL1 | ENSG00000137812.21 | transcript | ENST00000399668.7 | protein_coding | 26/26 | 967 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
KNTC1_chr12_122522249_122631396 | 122586806 | A | ATTTTTTT others(38): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 320 | 0.0031 | 45 | c.373 others(60): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 38/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KRT8_chr12_52892191_52910076 | 52894981 | A | AGAAAGAA others(38): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 2 | 386 | 0.0052 | 45 | c.*24 others(56): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2209 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894982 | G | GAAAGAAA others(38): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 386 | 0.0026 | 45 | c.*24 others(56): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2208 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894989 | A | AGAAAGAA others(38): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 386 | 0.0026 | 45 | c.*24 others(56): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2201 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894990 | G | GAAAGAAA others(38): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 386 | 0.0026 | 45 | c.*24 others(56): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2200 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894994 | G | GAAAGAAA others(38): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 386 | 0.0026 | 45 | c.*24 others(56): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2196 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894997 | A | AGAAAGAA others(38): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0029 | 1 | 386 | 0.0026 | 45 | c.*24 others(56): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2193 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894997 | A | AGAAAGAA others(38): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0009 | 1 | 386 | 0.0026 | 45 | c.*24 others(56): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2193 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52895001 | A | AGAAAGAA others(38): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 386 | 0.0026 | 45 | c.*24 others(56): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2189 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52895002 | G | GAAAGAAA others(38): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 386 | 0.0026 | 45 | c.*24 others(56): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2188 | chr12 | TogoVar | ||||||
KTN1_chr14_55575207_55689579 | 55646460 | T | TTTTCCTT others(38): Show |
intron_variant | MODIFIER | HG02738.hp1 NA18981.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0129a0001c0001t0001g0309a0001c0001t0004g0225 | 3 | 314 | 0.0096 | 45 | c.217 others(62): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LACC1_chr13_43874904_43898932 | 43879768 | G | GTGAGGCG others(38): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp2 NA19068.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028a0002c0002t0001g0098 | 3 | 456 | 0.0066 | 45 | c.-38 others(54): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 135 | chr13 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129446519 | G | GGAGGGGA others(38): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0004 | a0004c0048 | a0004c0048t0003 | a0004c0048t0003g0013 | 1 | 88 | 0.0114 | 45 | c.642 others(62): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 45/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129446544 | G | GGAGGGGA others(38): Show |
intron_variant | MODIFIER | NA18973.hp1 NA20129.hp2 |
a0002a0033 | a0002c0054a0033c0058 | a0002c0054t0004a0033c0058t0009 | a0002c0054t0004g0049a0033c0058t0009g0004 | 2 | 88 | 0.0227 | 45 | c.642 others(62): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 45/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62309636 | G | GGTGGGAG others(38): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG02071.hp2 others(25): Show |
a0000a0001a0003others(15): Show | a0000c0068a0000c0075a0000c0098others(21): Show | a0000c0068t0001a0000c0075t0001a0000c0098t0001others(22): Show | a0000c0068t0001g0031a0000c0075t0001g0120a0000c0098t0001g0124others(25): Show | 28 | 186 | 0.1505 | 45 | c.109 others(62): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 79/79 | chr20 | TogoVar | ||||||
LAP3_chr4_17572198_17612970 | 17580185 | T | TATATATA others(38): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0195 | 1 | 300 | 0.0033 | 45 | c.218 others(60): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33722251 | A | AGAGGGAG others(38): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01070.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0002g0088a0001c0001t0002g0096a0001c0001t0002g0100others(10): Show | 13 | 110 | 0.1182 | 45 | c.106 others(64): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128129672 | G | GAATAGAC others(38): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0291 | 1 | 336 | 0.0030 | 45 | c.152 others(64): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
LARP4B_chr10_804497_936705 | 932329 | G | GGCCCCGG others(38): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0001g0249a0001c0001t0001g0262a0001c0001t0004g0259others(13): Show | 16 | 288 | 0.0556 | 45 | c.-94 others(54): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 625 | chr10 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446368 | T | TCTCCCCC others(38): Show |
intron_variant | MODIFIER | HG02027.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258a0001c0001t0001g0286 | 2 | 318 | 0.0063 | 45 | c.804 others(62): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446370 | T | TCCCCCCC others(38): Show |
intron_variant | MODIFIER | NA19063.hp1 NA19080.hp1 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0001a0002c0002t0001 | a0001c0005t0001g0008a0002c0002t0001g0211 | 2 | 318 | 0.0063 | 45 | c.804 others(62): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LIN54_chr4_82919603_83015823 | 83001858 | A | AAAAGGAA others(38): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02074.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0007a0001c0001t0001g0041a0001c0001t0001g0086others(1): Show | 4 | 304 | 0.0132 | 45 | c.-33 others(62): Show |
LIN54 | ENSG00000189308.11 | transcript | ENST00000340417.8 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
LIPG_chr18_49557057_49604185 | 49558430 | T | TCTCTCTC others(38): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0065 | a0002c0002t0065g0369 | 1 | 384 | 0.0026 | 45 | c.-38 others(56): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 3626 | chr18 | TogoVar | ||||||
LIPG_chr18_49557057_49604185 | 49579764 | C | CTTTCCTT others(38): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0179 | 1 | 384 | 0.0026 | 45 | c.794 others(62): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LIPG_chr18_49557057_49604185 | 49579764 | C | CTTTCCTT others(38): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0190 | 1 | 384 | 0.0026 | 45 | c.794 others(62): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LIPG_chr18_49557057_49604185 | 49579764 | C | CTTTCCTT others(38): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 384 | 0.0026 | 45 | c.794 others(62): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LIPM_chr10_88797730_88825546 | 88808910 | C | CATTTTAT others(38): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 462 | 0.0022 | 45 | c.265 others(60): Show |
LIPM | ENSG00000173239.14 | transcript | ENST00000404743.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LIX1L_chr1_145928423_145963017 | 145962637 | G | GGAGGGAG others(38): Show |
upstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 316 | 0.0032 | 45 | c.-47 others(56): Show |
LIX1L | ENSG00000271601.4 | transcript | ENST00000604000.4 | protein_coding | 4621 | chr1 | TogoVar |