| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| JPH3_chr16_87597508_87703156 | 87614268 | A | ACAGGCCC others(235): Show |
intron_variant | MODIFIER | HG02559.hp1 HG06807.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0358a0001c0003t0001g0359 | 2 | 380 | 0.0053 | 242 | c.382 others(261): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| KALRN_chr3_124028369_124731325 | 124110027 | G | GATATATA others(235): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0041 | a0001c0041t0012 | a0001c0041t0012g0105 | 1 | 116 | 0.0086 | 242 | c.73+ others(259): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KDM4B_chr19_4964113_5158598 | 5131538 | A | AGGGGCAG others(235): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18944.hp2 NA19065.hp1 |
a0005 | a0005c0020a0005c0033a0005c0040 | a0005c0020t0002a0005c0033t0001a0005c0040t0008 | a0005c0020t0002g0162a0005c0033t0001g0183a0005c0040t0008g0068 | 3 | 270 | 0.0111 | 242 | c.178 others(259): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KIAA0930_chr22_45187244_45245894 | 45229320 | T | TCCCCACC others(235): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0375 | 1 | 398 | 0.0025 | 242 | c.64+ others(259): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(235): Show |
upstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0152 | 1 | 375 | 0.0027 | 242 | c.-22 others(253): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | ||||||
| KLHL18_chr3_47277944_47351816 | 47316707 | G | GTATGTGT others(235): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 338 | 0.0030 | 242 | c.130 others(259): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LARS1_chr5_146108034_146187650 | 146174471 | T | TATATATC others(235): Show |
intron_variant | MODIFIER | NA18990.hp1 NA18995.hp1 NA19056.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0225a0002c0002t0002g0231a0002c0002t0002g0233others(1): Show | 4 | 284 | 0.0141 | 242 | c.126 others(259): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124507698 | G | GGGGGGGT others(235): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 260 | 0.0039 | 242 | c.625 others(259): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
| LILRA1_chr19_54588632_54607381 | 54603521 | A | ATATGTGA others(235): Show |
downstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 453 | 0.0022 | 242 | c.*27 others(253): Show |
LILRA1 | ENSG00000104974.12 | transcript | ENST00000251372.8 | protein_coding | 1141 | chr19 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 936236 | G | GTGGCTGG others(235): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0005 | a0005c0034 | a0005c0034t0015 | a0005c0034t0015g0274 | 1 | 294 | 0.0034 | 242 | c.504 others(259): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(235): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 414 | 0.0024 | 242 | c.171 others(259): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504186 | C | CCCCCCCC others(235): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 414 | 0.0024 | 242 | c.171 others(259): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(235): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 414 | 0.0024 | 242 | c.171 others(259): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LOC127933115_chrX_23778278_23788367 | 23780122 | C | CACACATA others(235): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 2 | 334 | 0.0060 | 242 | c.-31 others(253): Show |
LOC127933115 | ENSG00000288706.1 | transcript | ENST00000683890.1 | protein_coding | 3155 | chrX | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186408 | G | GGAGGAAC others(235): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 350 | 0.0029 | 242 | c.*27 others(253): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2581 | chr16 | TogoVar | ||||||
| MAGI3_chr1_113385515_113690923 | 113416469 | T | TTAATTTT others(235): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0178 | 1 | 236 | 0.0042 | 242 | c.316 others(261): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MBD3L3_chr19_7051207_7063676 | 7061735 | T | TATATATA others(235): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 288 | 0.0035 | 242 | c.-31 others(253): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3060 | chr19 | TogoVar | ||||||
| MCOLN2_chr1_84920583_85002113 | 84987552 | A | ATACATAT others(235): Show |
intron_variant | MODIFIER | NA19081.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253a0001c0001t0002g0254 | 2 | 350 | 0.0057 | 242 | c.77+ others(257): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
| METRNL_chr17_83074609_83100122 | 83090506 | A | ACCCCCGC others(235): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 399 | 0.0025 | 242 | c.557 others(259): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MMP26_chr11_4699784_4997429 | 4886717 | C | CAAAAGAC others(235): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG02055.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0040a0001c0001t0001g0051a0001c0001t0001g0086others(5): Show | 8 | 206 | 0.0388 | 242 | c.-14 others(265): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MMP26_chr11_4699784_4997429 | 4886717 | C | CAAAAGAC others(235): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 206 | 0.0049 | 242 | c.-14 others(265): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MROH2A_chr2_233773330_233838418 | 233787925 | T | TATATATT others(235): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0054 | a0054c0179 | a0054c0179t0001 | a0054c0179t0001g0084 | 1 | 378 | 0.0027 | 242 | c.277 others(259): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MSLN_chr16_755734_773862 | 767791 | G | GGGTGTGG others(235): Show |
intron_variant | MODIFIER | HG03669.hp1 HG04204.hp1 NA19063.hp2 |
a0001a0004a0019 | a0001c0022a0004c0006a0019c0032 | a0001c0022t0001a0004c0006t0001a0019c0032t0001 | a0001c0022t0001g0178a0004c0006t0001g0251a0019c0032t0001g0177 | 3 | 388 | 0.0077 | 242 | c.159 others(259): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110681089 | A | ATATTAAT others(235): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 326 | 0.0031 | 242 | c.80- others(257): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NAALADL2_chr3_174854334_175815548 | 175670558 | A | AAATGTAA others(235): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0014 | a0014c0022 | a0014c0022t0001 | a0014c0022t0001g0034 | 1 | 64 | 0.0156 | 242 | c.189 others(263): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NAB1_chr2_190644083_190697766 | 190690012 | C | CTATACAT others(235): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0141 | 1 | 374 | 0.0027 | 242 | c.137 others(259): Show |
NAB1 | ENSG00000138386.17 | transcript | ENST00000337386.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NCAPH2_chr22_50503224_50529780 | 50504140 | A | ACCCCCCC others(235): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0036 | 1 | 384 | 0.0026 | 242 | c.-41 others(253): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4083 | chr22 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504186 | C | CCCCCCCC others(235): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 384 | 0.0026 | 242 | c.-41 others(253): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4037 | chr22 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(235): Show |
upstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 384 | 0.0026 | 242 | c.-41 others(253): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806189 | A | ACCCTCCC others(235): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0037 | 1 | 319 | 0.0031 | 242 | c.-30 others(253): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3003 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241807607 | T | TCCCTCCC others(235): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0037 | 2 | 319 | 0.0063 | 242 | c.-16 others(253): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1585 | chr2 | TogoVar | ||||||
| NFATC1_chr18_79390930_79534323 | 79532223 | G | GCCCCCCG others(235): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0003 | a0002c0003t0057 | a0002c0003t0057g0246 | 1 | 322 | 0.0031 | 242 | c.*46 others(253): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2901 | chr18 | TogoVar | ||||||
| NFATC2_chr20_51381963_51547719 | 51500818 | A | ACCACCCC others(235): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0121 | 1 | 316 | 0.0032 | 242 | c.133 others(263): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 3/10 | chr20 | TogoVar | ||||||
| NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(235): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0011 | 1 | 304 | 0.0033 | 242 | c.563 others(261): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
| NHEJ1_chr2_219064357_219165815 | 219159588 | C | CATATATA others(235): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0131 | 1 | 350 | 0.0029 | 242 | c.-1+ others(257): Show |
NHEJ1 | ENSG00000187736.14 | transcript | ENST00000356853.10 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
| NLRP8_chr19_55942832_55993629 | 55993534 | C | CCCCCTCC others(235): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0003 | a0003c0009 | a0003c0009t0003 | a0003c0009t0003g0187 | 1 | 350 | 0.0029 | 242 | c.*56 others(253): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4906 | chr19 | TogoVar | ||||||
| NUP93_chr16_56725129_56855286 | 56808281 | T | TATATAGT others(235): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 378 | 0.0027 | 242 | c.489 others(259): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NUP93_chr16_56725129_56855286 | 56808281 | T | TATATAGT others(235): Show |
intron_variant | MODIFIER | NA19002.hp1 NA19066.hp1 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0001a0001c0012t0001 | a0001c0002t0001g0075a0001c0012t0001g0079 | 2 | 378 | 0.0053 | 242 | c.489 others(259): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NUP93_chr16_56725129_56855286 | 56808331 | T | TATATAGT others(235): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 378 | 0.0027 | 242 | c.489 others(259): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NUP93_chr16_56725129_56855286 | 56808366 | T | TATAACTA others(235): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 378 | 0.0027 | 242 | c.489 others(259): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | chr16 | TogoVar | ||||||
| NUP93_chr16_56725129_56855286 | 56808373 | A | ATAAAATA others(235): Show |
intron_variant | MODIFIER | HG02602.hp2 NA19062.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101a0001c0002t0001g0129 | 2 | 378 | 0.0053 | 242 | c.489 others(259): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NUP93_chr16_56725129_56855286 | 56808448 | A | ATAAAATA others(235): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 378 | 0.0027 | 242 | c.489 others(259): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NXN_chr17_794310_984776 | 948895 | C | CCCCCCTG others(235): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 242 | 0.0041 | 242 | c.360 others(261): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 949109 | G | GCCTCCTC others(235): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 242 | 0.0041 | 242 | c.360 others(261): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OBI1_chr13_78609289_78664155 | 78659327 | A | AGAAAGAA others(235): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 296 | 0.0034 | 242 | c.-20 others(251): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 173 | chr13 | TogoVar | ||||||
| OPTN_chr10_13095163_13143308 | 13115253 | T | TTATATCT others(235): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0210 | 1 | 418 | 0.0024 | 242 | c.553 others(257): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| OPTN_chr10_13095163_13143308 | 13115253 | T | TTATATCT others(235): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0106a0001c0001t0001g0112a0001c0001t0001g0113others(3): Show | 6 | 418 | 0.0144 | 242 | c.553 others(257): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| OR1F1_chr16_3183204_3211556 | 3198013 | G | GGGAGAAG others(235): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 328 | 0.0031 | 242 | c.-12 others(259): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| OR4K2_chr14_19870142_19888932 | 19872713 | T | TTATATAT others(235): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0001 | 1 | 254 | 0.0039 | 242 | c.-34 others(253): Show |
OR4K2 | ENSG00000165762.3 | transcript | ENST00000641885.1 | protein_coding | 2428 | chr14 | TogoVar | ||||||
| OR51T1_chr11_4876900_4887883 | 4886717 | C | CAAAAGAC others(235): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00735.hp1 others(10): Show |
a0001a0003a0004 | a0001c0001a0003c0007a0004c0009 | a0001c0001t0000a0003c0007t0000a0004c0009t0000 | a0001c0001t0000g0000a0003c0007t0000g0000a0004c0009t0000g0000 | 13 | 426 | 0.0305 | 242 | c.*38 others(253): Show |
OR51T1 | ENSG00000176900.2 | transcript | ENST00000322049.1 | protein_coding | 3835 | chr11 | TogoVar |