view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1892): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1899 | c.-20 others(1910): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1892): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1899 | c.-20 others(1910): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1892): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 NA18971.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0037 a0001c0001t0003g0039 |
3 | 10 | 0.3000 | 1899 | c.-20 others(1910): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1892): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02080.hp2 HG02273.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0001 a0001c0001t0012g0023 |
9 | 16 | 0.5625 | 1899 | c.-20 others(1910): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1892): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1899 | c.-20 others(1910): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1892): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0007 | 1 | 8 | 0.1250 | 1899 | c.-20 others(1910): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1892): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 NA18747.hp1 NA18941.hp1 others(5): Show |
a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0007 | 8 | 15 | 0.5333 | 1899 | c.-20 others(1910): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1892): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0344 | 1 | 259 | 0.0039 | 1899 | c.101 others(1918): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431957 | T | TTAGGGTG others(1892): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0144 | 1 | 128 | 0.0078 | 1899 | c.101 others(1918): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50057338 | A | AGTCAGGT others(1892): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0191 | 1 | 195 | 0.0051 | 1899 | c.-38 others(1914): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802944 | G | GGGGGCCC others(1893): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 379 | 0.0026 | 1900 | c.666 others(1915): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(1893): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0031 | a0031c0062 | a0031c0062t0003 | a0031c0062t0003g0099 | 1 | 13 | 0.0769 | 1900 | c.354 others(1919): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1893): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0059 | 1 | 73 | 0.0137 | 1900 | c.-56 others(1919): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406031 | G | GTGTCACT others(1893): Show |
3_prime_UTR_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 152 | 0.0066 | 1900 | c.*80 others(1909): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 802 | chr2 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(1893): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0234 | 1 | 216 | 0.0046 | 1900 | c.129 others(1917): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1893): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0153 | 1 | 48 | 0.0208 | 1900 | c.107 others(1919): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1893): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0005 | 1 | 48 | 0.0208 | 1900 | c.107 others(1919): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393254 | T | TCTCTCTC others(1893): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0004 | 1 | 153 | 0.0065 | 1900 | c.107 others(1919): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1893): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 5 | 0.2000 | 1900 | c.189 others(1919): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1893): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 NA19085.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0114a0001c0002t0103 | a0001c0001t0114g0295 a0001c0002t0103g0203 |
2 | 10 | 0.2000 | 1900 | c.*39 others(1911): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649063 | A | ATGCCCAC others(1893): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0203 | 1 | 308 | 0.0032 | 1900 | c.112 others(1917): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(1893): Show |
intron_variant | MODIFIER | HG00673.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0050 | a0001c0001t0048g0235 a0001c0001t0050g0015 |
2 | 251 | 0.0080 | 1900 | c.112 others(1917): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PTPRH_chr19_55176247_55214501 | 55207808 | T | TCCTGGGT others(1893): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0006 | a0006c0025 | a0006c0025t0001 | a0006c0025t0001g0184 | 1 | 217 | 0.0046 | 1900 | c.52- others(1913): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
SHROOM3_chr4_76430229_76788253 | 76608626 | T | TATAGCAT others(1893): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0205 | 1 | 190 | 0.0053 | 1900 | c.323 others(1919): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(1893): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 315 | 0.0032 | 1900 | c.115 others(1917): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(1893): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0305 | 1 | 315 | 0.0032 | 1900 | c.115 others(1917): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414460 | G | GGGGAAGG others(1893): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0244 | 1 | 330 | 0.0030 | 1900 | c.115 others(1917): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414460 | G | GGGGAAGG others(1893): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0174 | 1 | 330 | 0.0030 | 1900 | c.115 others(1917): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(1893): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 145 | 0.0069 | 1900 | c.327 others(1917): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
ZBTB42_chr14_104796101_104809712 | 104808300 | G | GAGCACCC others(1893): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 92 | 0.0109 | 1900 | c.*58 others(1911): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 3589 | chr14 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377444 | T | TGCCCGAC others(1893): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01123.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0007g0008 others(3): Show |
6 | 298 | 0.0201 | 1900 | c.*41 others(1915): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1894): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 89 | 0.0112 | 1901 | c.128 others(1916): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1894): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0283 | 1 | 89 | 0.0112 | 1901 | c.128 others(1916): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803280 | G | GCCGGGGG others(1894): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 309 | 0.0032 | 1901 | c.666 others(1916): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1894): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 30 | 0.0333 | 1901 | c.445 others(1916): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1894): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 30 | 0.0333 | 1901 | c.445 others(1916): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1894): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 30 | 0.0333 | 1901 | c.445 others(1916): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1894): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 30 | 0.0333 | 1901 | c.445 others(1916): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1894): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18954.hp2 NA18990.hp2 |
a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0079 a0001c0007t0012g0080 a0001c0007t0012g0081 |
3 | 75 | 0.0400 | 1901 | c.-56 others(1920): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173044 | C | CCTCTCCT others(1894): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 117 | 0.0085 | 1901 | c.*11 others(1922): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(1894): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0359 | 1 | 304 | 0.0033 | 1901 | c.-22 others(1912): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | |||||||
MLC1_chr22_50054391_50090426 | 50057338 | A | AGTCAGGT others(1894): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 186 | 0.0054 | 1901 | c.*42 others(1912): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 2052 | chr22 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(1894): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0134 | 1 | 156 | 0.0064 | 1901 | c.358 others(1918): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393236 | G | GCCCTCTC others(1894): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0144 | 1 | 148 | 0.0068 | 1901 | c.107 others(1920): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393237 | C | CCCTCTCT others(1894): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 151 | 0.0066 | 1901 | c.107 others(1920): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CTCTCTCT others(1894): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 48 | 0.0208 | 1901 | c.107 others(1920): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393246 | T | TCTCTCTC others(1894): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0045 | a0001c0001t0032g0068 a0001c0001t0045g0137 |
2 | 139 | 0.0144 | 1901 | c.107 others(1920): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393248 | T | TCTCTCTC others(1894): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0079 | 1 | 150 | 0.0067 | 1901 | c.107 others(1920): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393256 | T | TCTCTCTC others(1894): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0089 | 1 | 150 | 0.0067 | 1901 | c.107 others(1920): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1894): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 210 | 0.0048 | 1901 | c.*22 others(1912): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar |