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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIF1B_chr1_10205570_10386603 | 10282795 | A | ACGTTAAT others(39): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0252 | 1 | 300 | 0.0033 | 46 | c.143 others(63): Show |
KIF1B | ENSG00000054523.20 | transcript | ENST00000676179.1 | protein_coding | 15/48 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIF21A_chr12_39288228_39448120 | 39355707 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 298 | 0.0034 | 46 | c.146 others(65): Show |
KIF21A | ENSG00000139116.19 | transcript | ENST00000361418.10 | protein_coding | 10/37 | chr12 | TogoVar | ||||||
KIF21A_chr12_39288228_39448120 | 39416765 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0003 | a0003c0010 | a0003c0010t0003 | a0003c0010t0003g0143 | 1 | 298 | 0.0034 | 46 | c.44+ others(63): Show |
KIF21A | ENSG00000139116.19 | transcript | ENST00000361418.10 | protein_coding | 1/37 | chr12 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997285 | G | GGGGCGGG others(39): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG02083.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0025 | a0001c0001t0006g0021a0001c0001t0006g0158a0001c0001t0025g0153 | 3 | 375 | 0.0080 | 46 | c.-21 others(57): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 385 | chr6 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245640143 | C | CTCTCTCT others(39): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0075 | a0001c0002t0075g0083 | 1 | 160 | 0.0063 | 46 | c.209 others(65): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIF26B_chr1_245149985_245714432 | 245640143 | C | CTCTCTCT others(39): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18747.hp1 |
a0003a0010 | a0003c0006a0010c0021 | a0003c0006t0068a0010c0021t0017 | a0003c0006t0068g0007a0010c0021t0017g0113 | 2 | 160 | 0.0125 | 46 | c.209 others(65): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIF26B_chr1_245149985_245714432 | 245640143 | C | CTCTCTCT others(39): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02074.hp1 |
a0001a0003 | a0001c0002a0003c0028 | a0001c0002t0053a0003c0028t0003 | a0001c0002t0053g0121a0003c0028t0003g0011 | 2 | 160 | 0.0125 | 46 | c.209 others(65): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIF26B_chr1_245149985_245714432 | 245640143 | C | CTCTCTCT others(39): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0013 | a0001c0013t0049 | a0001c0013t0049g0153 | 1 | 160 | 0.0063 | 46 | c.209 others(65): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIF27_chr9_83829099_83926432 | 83848054 | T | TATATATC others(39): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01943.hp2 HG03041.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0275a0003c0004t0001g0277a0003c0004t0001g0278others(4): Show | 7 | 346 | 0.0202 | 46 | c.355 others(65): Show |
KIF27 | ENSG00000165115.15 | transcript | ENST00000297814.7 | protein_coding | 16/17 | chr9 | TogoVar | ||||||
KIF2C_chr1_44734837_44772767 | 44738054 | T | TTCCCCCT others(39): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(195): Show | 226 | 374 | 0.6043 | 46 | c.-18 others(57): Show |
KIF2C | ENSG00000142945.13 | transcript | ENST00000372224.9 | protein_coding | 1782 | chr1 | TogoVar | ||||||
KIF2C_chr1_44734837_44772767 | 44738054 | T | TTCCCCCT others(39): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02622.hp1 others(21): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0007 | a0001c0003t0002a0001c0003t0003a0001c0006t0001others(1): Show | a0001c0003t0002g0013a0001c0003t0002g0080a0001c0003t0002g0146others(16): Show | 24 | 374 | 0.0642 | 46 | c.-18 others(57): Show |
KIF2C | ENSG00000142945.13 | transcript | ENST00000372224.9 | protein_coding | 1782 | chr1 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322764 | A | ATATTTAT others(39): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0041 | 1 | 242 | 0.0041 | 46 | c.174 others(65): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KIF4A_chrX_70285104_70425886 | 70373546 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 259 | 0.0039 | 46 | c.167 others(63): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KIF6_chr6_39324990_39730408 | 39346132 | C | CCTCTCTC others(39): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0003 | a0003c0003 | a0003c0003t0014 | a0003c0003t0014g0109 | 1 | 174 | 0.0058 | 46 | c.223 others(63): Show |
KIF6 | ENSG00000164627.18 | transcript | ENST00000287152.12 | protein_coding | 20/22 | chr6 | TogoVar | ||||||
KIFAP3_chr1_169916329_170079695 | 169928699 | C | CAAAAAAA others(39): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 372 | 0.0027 | 46 | c.227 others(65): Show |
KIFAP3 | ENSG00000075945.13 | transcript | ENST00000361580.7 | protein_coding | 19/19 | chr1 | TogoVar | ||||||
KIFAP3_chr1_169916329_170079695 | 169973105 | G | GTGTATAT others(39): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01261.hp2 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0015a0001c0001t0001g0027a0001c0001t0001g0037others(4): Show | 7 | 372 | 0.0188 | 46 | c.189 others(63): Show |
KIFAP3 | ENSG00000075945.13 | transcript | ENST00000361580.7 | protein_coding | 16/19 | chr1 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126821351 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG01099.hp2 HG04228.hp1 NA18962.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004a0001c0002t0044 | a0001c0001t0002g0062a0001c0001t0002g0065a0001c0002t0004g0102others(1): Show | 4 | 114 | 0.0351 | 46 | c.55+ others(65): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KLC3_chr19_45335750_45356519 | 45337695 | T | TCGCCCTC others(39): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02602.hp1 HG02630.hp1 others(9): Show |
a0001a0010 | a0001c0001a0001c0003a0010c0011 | a0001c0001t0001a0001c0003t0001a0010c0011t0001 | a0001c0001t0001g0023a0001c0001t0001g0035a0001c0001t0001g0061others(8): Show | 12 | 434 | 0.0277 | 46 | c.-31 others(57): Show |
KLC3 | ENSG00000104892.17 | transcript | ENST00000391946.7 | protein_coding | 3054 | chr19 | TogoVar | ||||||
KLF11_chr2_10038550_10059836 | 10043258 | G | GCCGCCCC others(39): Show |
upstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 414 | 0.0024 | 46 | c.-45 others(55): Show |
KLF11 | ENSG00000172059.11 | transcript | ENST00000305883.6 | protein_coding | 291 | chr2 | TogoVar | ||||||
KLF9_chr9_70379604_70419657 | 70409131 | T | TGTGTGTA others(39): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0022 | 2 | 400 | 0.0050 | 46 | c.505 others(63): Show |
KLF9 | ENSG00000119138.5 | transcript | ENST00000377126.4 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
KLF9_chr9_70379604_70419657 | 70409172 | A | ATATATGT others(39): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 400 | 0.0025 | 46 | c.505 others(63): Show |
KLF9 | ENSG00000119138.5 | transcript | ENST00000377126.4 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
KLF9_chr9_70379604_70419657 | 70409181 | T | TGTGTATA others(39): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277 | 1 | 400 | 0.0025 | 46 | c.505 others(63): Show |
KLF9 | ENSG00000119138.5 | transcript | ENST00000377126.4 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
KLF9_chr9_70379604_70419657 | 70409181 | T | TGTGTGTA others(39): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0040 | a0001c0001t0016g0302a0001c0001t0016g0305a0001c0001t0040g0304 | 3 | 400 | 0.0075 | 46 | c.505 others(63): Show |
KLF9 | ENSG00000119138.5 | transcript | ENST00000377126.4 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAAAAAA others(39): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 208 | 0.0048 | 46 | c.*22 others(57): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87706229 | G | GGGGTCAG others(39): Show |
downstream_gene_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 380 | 0.0026 | 46 | c.*18 others(57): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 1582 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739111 | C | TCTCATCC others(39): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03139.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0140a0001c0001t0001g0324 | 3 | 380 | 0.0079 | 46 | c.507 others(63): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHL18_chr3_47277944_47351816 | 47316503 | A | ATATGTGT others(39): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0127 | 1 | 338 | 0.0030 | 46 | c.130 others(63): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KLHL1_chr13_69695597_70113452 | 69721062 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 182 | 0.0055 | 46 | c.180 others(65): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 8/10 | chr13 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69939359 | A | ATATATAC others(39): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 182 | 0.0055 | 46 | c.101 others(63): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 4/10 | chr13 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169753131 | A | ATATATAT others(39): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0244 | 1 | 400 | 0.0025 | 46 | c.*33 others(57): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 1254 | chr2 | TogoVar | ||||||
KLHL28_chr14_44919324_44966947 | 44935890 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0054 | 1 | 224 | 0.0045 | 46 | c.900 others(63): Show |
KLHL28 | ENSG00000179454.14 | transcript | ENST00000396128.9 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
KLK11_chr19_51017236_51031616 | 51031595 | C | CATATATA others(39): Show |
upstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 456 | 0.0022 | 46 | c.-50 others(57): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4980 | chr19 | TogoVar | ||||||
KLK12_chr19_51024094_51040002 | 51031595 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 448 | 0.0022 | 46 | c.457 others(61): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KLK5_chr19_50938303_50958038 | 50956846 | A | AAATGGGA others(39): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0046 | 1 | 380 | 0.0026 | 46 | c.-41 others(57): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 3809 | chr19 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152215688 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0024 | 1 | 172 | 0.0058 | 46 | c.371 others(65): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 23/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152215688 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0011 | a0011c0020 | a0011c0020t0002 | a0011c0020t0002g0060 | 1 | 172 | 0.0058 | 46 | c.371 others(65): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 23/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152215688 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0062 | 1 | 172 | 0.0058 | 46 | c.371 others(65): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 23/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152235207 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0096 | 1 | 172 | 0.0058 | 46 | c.276 others(63): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 16/58 | chr7 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133185494 | G | GGCAGTGT others(39): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG01891.hp1 others(22): Show |
a0003a0006a0007 | a0003c0011a0003c0015a0003c0032others(4): Show | a0003c0011t0001a0003c0015t0002a0003c0032t0010others(6): Show | a0003c0011t0001g0018a0003c0011t0001g0022a0003c0011t0001g0153others(22): Show | 25 | 332 | 0.0753 | 46 | c.626 others(61): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KNDC1_chr10_133155219_133231412 | 133222499 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0236 | 1 | 332 | 0.0030 | 46 | c.501 others(65): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KNG1_chr3_186712359_186749410 | 186714218 | C | CAAAGAAA others(39): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0139 | 1 | 430 | 0.0023 | 46 | c.-33 others(57): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 3140 | chr3 | TogoVar | ||||||
KPNA2_chr17_68030735_68051854 | 68040290 | G | GACACACA others(39): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 340 | 0.0029 | 46 | c.214 others(61): Show |
KPNA2 | ENSG00000182481.10 | transcript | ENST00000330459.8 | protein_coding | 3/10 | chr17 | TogoVar | ||||||
KRT10_chr17_40813117_40827614 | 40823412 | A | AGCATGAA others(39): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0007 | 1 | 426 | 0.0024 | 46 | c.-82 others(55): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 799 | chr17 | TogoVar | ||||||
KRT40_chr17_40972715_40989326 | 40974468 | C | CTCTCTCT others(39): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0014 | 1 | 451 | 0.0022 | 46 | c.*37 others(57): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 3246 | chr17 | TogoVar | ||||||
KRT40_chr17_40972715_40989326 | 40974724 | C | CTTTCTTT others(39): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 NA20300.hp1 |
a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0019 | 2 | 451 | 0.0044 | 46 | c.*34 others(57): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 2990 | chr17 | TogoVar | ||||||
KRT40_chr17_40972715_40989326 | 40974724 | C | CTTTCTTT others(39): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG02602.hp2 HG02922.hp1 others(5): Show |
a0005a0006a0010 | a0005c0004a0006c0006a0010c0012 | a0005c0004t0002a0006c0006t0002a0010c0012t0002 | a0005c0004t0002g0003a0005c0004t0002g0016a0006c0006t0002g0006others(2): Show | 8 | 451 | 0.0177 | 46 | c.*34 others(57): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 2990 | chr17 | TogoVar | ||||||
KRTAP5-1_chr11_1579342_1590283 | 1581852 | G | GTATCTAG others(39): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 429 | 0.0023 | 46 | c.*25 others(57): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 2489 | chr11 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6099585 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0087 | 1 | 94 | 0.0106 | 46 | c.120 others(65): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6221362 | G | GGGATCTG others(39): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0056 | 1 | 94 | 0.0106 | 46 | c.785 others(63): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 10/18 | chr18 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62309603 | T | TGGGAGGA others(39): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19043.hp1 |
a0019 | a0019c0022 | a0019c0022t0001 | a0019c0022t0001g0155a0019c0022t0001g0156 | 2 | 186 | 0.0108 | 46 | c.109 others(65): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 79/79 | chr20 | TogoVar |