view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MBNL1_chr3_152263929_152470780 | 152336169 | C | CAAAAATG others(228): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0086a0001c0001t0004g0182a0001c0001t0004g0183others(8): Show | 11 | 338 | 0.0325 | 235 | c.174 others(254): Show |
MBNL1 | ENSG00000152601.18 | transcript | ENST00000324210.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94464250 | A | ATAATATA others(228): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0243 | 1 | 276 | 0.0036 | 235 | c.236 others(254): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
METRNL_chr17_83074609_83100122 | 83090386 | C | CCCCCCAC others(228): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0108 | 1 | 399 | 0.0025 | 235 | c.557 others(252): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446244 | G | GAGGAGGG others(228): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0006 | a0006c0019 | a0006c0019t0001 | a0006c0019t0001g0036 | 1 | 280 | 0.0036 | 235 | c.641 others(250): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446244 | G | GAGGAGGG others(228): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02886.hp1 HG03225.hp1 others(1): Show |
a0006a0007 | a0006c0011a0006c0019a0007c0064 | a0006c0011t0001a0006c0019t0003a0007c0064t0003 | a0006c0011t0001g0034a0006c0011t0001g0035a0006c0019t0003g0038others(1): Show | 4 | 280 | 0.0143 | 235 | c.641 others(250): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MID2_chrX_107820866_107936637 | 107910768 | T | TTTTCCTT others(228): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 181 | 0.0055 | 235 | c.107 others(254): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MID2_chrX_107820866_107936637 | 107910809 | T | TTTCCTTT others(228): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 181 | 0.0055 | 235 | c.107 others(254): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MID2_chrX_107820866_107936637 | 107910838 | C | CTTTCCTT others(228): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 | 1 | 181 | 0.0055 | 235 | c.107 others(254): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | chrX | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543940 | G | GGGGGATG others(228): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0006 | a0006c0006 | a0006c0006t0005 | a0006c0006t0005g0139 | 1 | 286 | 0.0035 | 235 | c.153 others(254): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MMD2_chr7_4900998_4964187 | 4960054 | G | GTGGGAAG others(228): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0234 | 1 | 382 | 0.0026 | 235 | c.-10 others(246): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 868 | chr7 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432663 | A | AGAGAGGG others(228): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0036 | 1 | 250 | 0.0040 | 235 | c.225 others(252): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED2_chr11_30405224_30591353 | 30557225 | A | AATATATA others(228): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0168a0001c0001t0005g0169 | 2 | 262 | 0.0076 | 235 | c.129 others(254): Show |
MPPED2 | ENSG00000066382.17 | transcript | ENST00000358117.10 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767791 | G | GTGCGTGG others(228): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0026 | 1 | 388 | 0.0026 | 235 | c.159 others(252): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77174921 | A | ATATATAT others(228): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02109.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0263a0001c0008t0001g0296a0001c0008t0001g0302others(4): Show | 7 | 334 | 0.0210 | 235 | c.547 others(252): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 36/82 | chr13 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668042 | C | CCTTACCC others(228): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 378 | 0.0027 | 235 | c.148 others(254): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668101 | C | CCCTTACC others(228): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0361a0006c0008t0001g0362 | 2 | 378 | 0.0053 | 235 | c.148 others(254): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(228): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 NA18986.hp2 |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0002a0005c0010t0001 | a0001c0001t0002g0194a0005c0010t0001g0097 | 2 | 384 | 0.0052 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(228): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0116 | 2 | 384 | 0.0052 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(228): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0104a0001c0001t0001g0124 | 3 | 384 | 0.0078 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(228): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 NA19066.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0168 | 3 | 384 | 0.0078 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(228): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 384 | 0.0026 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(228): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02630.hp1 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0111a0001c0001t0001g0132a0001c0001t0002g0018 | 3 | 384 | 0.0078 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(228): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01258.hp1 HG03491.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0035a0001c0001t0001g0043a0001c0001t0001g0046others(4): Show | 7 | 384 | 0.0182 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(228): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187a0001c0001t0002g0214 | 2 | 384 | 0.0052 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCG others(228): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 384 | 0.0026 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCG others(228): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 HG02486.hp2 NA19077.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0003 | a0001c0001t0001g0007a0001c0001t0001g0078a0002c0004t0003g0228 | 3 | 384 | 0.0078 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCG others(228): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG01099.hp1 HG01934.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0019 | a0001c0001t0001a0006c0019t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(2): Show | 6 | 384 | 0.0156 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCGG others(228): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 384 | 0.0026 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCGG others(228): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 384 | 0.0026 | 235 | c.-41 others(246): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCS1_chr9_130167404_130242303 | 130221881 | A | AAATATAA others(228): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0199 | 1 | 348 | 0.0029 | 235 | c.308 others(250): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241806189 | A | ACCTTCCC others(228): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 319 | 0.0031 | 235 | c.-30 others(246): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3003 | chr2 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26148248 | G | GGGGGGGT others(228): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 | 1 | 400 | 0.0025 | 235 | c.-42 others(246): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 3949 | chr7 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993491 | C | CCCCCCCC others(228): Show |
downstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0005 | a0001c0005t0014 | a0001c0005t0014g0114 | 1 | 350 | 0.0029 | 235 | c.*55 others(246): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4863 | chr19 | TogoVar | |||||||
NRAP_chr10_113583714_113669041 | 113647559 | C | CAGTGGTA others(228): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0033 | a0033c0028 | a0033c0028t0002 | a0033c0028t0002g0234 | 1 | 398 | 0.0025 | 235 | c.889 others(250): Show |
NRAP | ENSG00000197893.14 | transcript | ENST00000359988.4 | protein_coding | 9/41 | chr10 | TogoVar | |||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(228): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0243 | 1 | 308 | 0.0033 | 235 | c.730 others(252): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(228): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 308 | 0.0033 | 235 | c.730 others(252): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(228): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00621.hp2 others(40): Show |
a0001a0004a0007 | a0001c0002a0001c0023a0004c0010others(1): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0013others(3): Show | a0001c0002t0001g0062a0001c0002t0001g0063a0001c0002t0001g0066others(40): Show | 43 | 308 | 0.1396 | 235 | c.730 others(252): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NT5DC3_chr12_103767310_103846234 | 103840443 | C | CTCATCTC others(228): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0017 | 1 | 386 | 0.0026 | 235 | c.208 others(250): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 1/13 | chr12 | TogoVar | |||||||
NTSR1_chr20_62703836_62767771 | 62755590 | C | CTCCATCA others(228): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0008 | a0001c0008t0016 | a0001c0008t0016g0150 | 1 | 316 | 0.0032 | 235 | c.916 others(250): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OR1S2_chr11_58198204_58209142 | 58199861 | T | TGAAAATG others(228): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01891.hp1 HG02602.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0000 | a0001c0002t0000g0000 | 12 | 426 | 0.0282 | 235 | c.*33 others(246): Show |
OR1S2 | ENSG00000197887.6 | transcript | ENST00000641683.2 | protein_coding | 3342 | chr11 | TogoVar | |||||||
OR1S2_chr11_58198204_58209142 | 58199861 | T | TGAAAATG others(228): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0008 | a0001c0008t0000 | a0001c0008t0000g0000 | 1 | 426 | 0.0024 | 235 | c.*33 others(246): Show |
OR1S2 | ENSG00000197887.6 | transcript | ENST00000641683.2 | protein_coding | 3342 | chr11 | TogoVar | |||||||
OR4F17_chr19_102104_118156 | 107934 | T | TTATTATA others(228): Show |
intron_variant | MODIFIER | NA18959.hp1 NA18970.hp1 NA19001.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0013a0001c0001t0005g0079 | 4 | 227 | 0.0176 | 235 | c.-55 others(250): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
OR4F17_chr19_102104_118156 | 107934 | T | TTATTATA others(228): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 227 | 0.0044 | 235 | c.-55 others(250): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
OR4F17_chr19_102104_118156 | 107934 | T | TTATTATA others(228): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01099.hp2 HG01978.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0072 | 35 | 227 | 0.1542 | 235 | c.-55 others(250): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
OR4F17_chr19_102104_118156 | 107934 | T | TTATTATA others(228): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG02015.hp1 others(15): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0002 | a0001c0001t0001g0004a0001c0001t0001g0033a0004c0003t0002g0004 | 18 | 227 | 0.0793 | 235 | c.-55 others(250): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
OR4F17_chr19_102104_118156 | 107934 | T | TTATTATA others(228): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 227 | 0.0044 | 235 | c.-55 others(250): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(228): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 |
a0002a0004 | a0002c0018a0004c0051 | a0002c0018t0001a0004c0051t0001 | a0002c0018t0001g0025a0004c0051t0001g0263 | 2 | 336 | 0.0060 | 235 | c.-37 others(246): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(228): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0017 | a0017c0046 | a0017c0046t0001 | a0017c0046t0001g0242 | 1 | 336 | 0.0030 | 235 | c.-37 others(246): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(228): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02257.hp2 others(4): Show |
a0001a0013 | a0001c0003a0001c0004a0001c0006others(3): Show | a0001c0003t0002a0001c0004t0003a0001c0006t0001others(4): Show | a0001c0003t0002g0040a0001c0004t0003g0038a0001c0006t0001g0037others(4): Show | 7 | 336 | 0.0208 | 235 | c.-37 others(246): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(228): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 HG02132.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0300a0002c0003t0001g0302 | 2 | 360 | 0.0056 | 235 | c.*36 others(246): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar |