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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1916): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 HG02165.hp1 HG02165.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0015 a0001c0001t0003g0018 |
13 | 222 | 0.0586 | 1923 | c.*22 others(1934): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(1916): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1923 | c.-20 others(1934): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294250 | T | TCAGCCAC others(1916): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0321 | 1 | 240 | 0.0042 | 1923 | c.340 others(1940): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411082 | C | CCTGCTGG others(1917): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0044 | 1 | 290 | 0.0034 | 1924 | c.-21 others(1935): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1936 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411267 | C | CCTGCTGG others(1917): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0129 | a0001c0001t0129g0104 | 1 | 188 | 0.0053 | 1924 | c.-23 others(1935): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2121 | chr19 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1917): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 16 | 0.0625 | 1924 | c.164 others(1943): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1917): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 4 | 0.2500 | 1924 | c.972 others(1937): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1917): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 4 | 0.2500 | 1924 | c.972 others(1937): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1917): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 4 | 0.2500 | 1924 | c.972 others(1937): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323557 | T | TGTGTGTG others(1917): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0083 | 1 | 148 | 0.0068 | 1924 | c.-47 others(1935): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4762 | chrX | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364461 | C | CCACCCAC others(1917): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0008 | 1 | 256 | 0.0039 | 1924 | c.129 others(1941): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1917): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0188 | 1 | 32 | 0.0313 | 1924 | c.218 others(1939): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1917): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 12 | 0.0833 | 1924 | c.228 others(1941): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1917): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0024 | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0046 others(10): Show |
57 | 266 | 0.2143 | 1924 | c.*22 others(1935): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1917): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 210 | 0.0048 | 1924 | c.*22 others(1935): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1917): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 210 | 0.0048 | 1924 | c.*22 others(1935): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1917): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0025 |
2 | 211 | 0.0095 | 1924 | c.*22 others(1935): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294250 | T | TCAGCCAC others(1917): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0312 | 1 | 240 | 0.0042 | 1924 | c.340 others(1941): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(1918): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03942.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0287 a0001c0002t0001g0288 |
2 | 159 | 0.0126 | 1925 | c.126 others(1942): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1918): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 4 | 0.2500 | 1925 | c.972 others(1938): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GNL3L_chrX_54525219_54572289 | 54534021 | G | GCAGTTGG others(1918): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 | 1 | 212 | 0.0047 | 1925 | c.19+ others(1940): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1918): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 32 | 0.0313 | 1925 | c.218 others(1940): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178228 | C | CCCATCCA others(1918): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0069 | a0001c0069t0001 | a0001c0069t0001g0340 | 1 | 344 | 0.0029 | 1925 | c.228 others(1942): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1918): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0110 | 1 | 132 | 0.0076 | 1925 | c.107 others(1944): 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(1918): Show |
downstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 210 | 0.0048 | 1925 | c.*22 others(1936): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1918): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0050 |
2 | 211 | 0.0095 | 1925 | c.*22 others(1936): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1918): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 NA18952.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0025 |
5 | 214 | 0.0234 | 1925 | c.*22 others(1936): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1918): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 210 | 0.0048 | 1925 | c.*22 others(1936): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939858 | A | AAAAGAAA others(1919): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0190 | 1 | 247 | 0.0040 | 1926 | c.403 others(1941): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185145 | C | CTGCCCCT others(1919): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0005 | a0005c0052 | a0005c0052t0001 | a0005c0052t0001g0025 | 1 | 132 | 0.0076 | 1926 | c.193 others(1945): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GNL3L_chrX_54525219_54572289 | 54534021 | G | GCAGTTGG others(1919): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 212 | 0.0047 | 1926 | c.19+ others(1941): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GNL3L_chrX_54525219_54572289 | 54534021 | G | GCAGTTGG others(1919): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00621.hp1 others(52): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0015a0001c0001t0024others(24): Show | a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0010 others(44): Show |
55 | 266 | 0.2068 | 1926 | c.19+ others(1941): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173044 | C | CCTCTCCT others(1919): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0016 | a0002c0016t0013 | a0002c0016t0013g0144 | 1 | 117 | 0.0085 | 1926 | c.*11 others(1947): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1919): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 210 | 0.0048 | 1926 | c.*22 others(1937): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1919): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1926 | c.-20 others(1937): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744739 | T | TCCTGGTT others(1919): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0031 | a0001c0031t0011 | a0001c0031t0011g0073 | 1 | 163 | 0.0061 | 1926 | c.655 others(1943): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744883 | C | CCCTGGCT others(1919): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0043 | 1 | 150 | 0.0067 | 1926 | c.655 others(1943): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1919): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 146 | 0.0068 | 1926 | c.114 others(1943): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
GNL3L_chrX_54525219_54572289 | 54534021 | G | GCAGTTGG others(1920): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0041a0001c0001t0051 | a0001c0001t0018g0033 a0001c0001t0018g0133 a0001c0001t0041g0134 others(1): Show |
4 | 215 | 0.0186 | 1927 | c.19+ others(1942): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GNL3L_chrX_54525219_54572289 | 54534021 | G | GCAGTTGG others(1920): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0135 | 1 | 212 | 0.0047 | 1927 | c.19+ others(1942): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GNL3L_chrX_54525219_54572289 | 54534021 | G | GCAGTTGG others(1920): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0131 | 1 | 212 | 0.0047 | 1927 | c.19+ others(1942): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GNL3L_chrX_54525219_54572289 | 54534021 | G | GCAGTTGG others(1920): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0160 | 1 | 212 | 0.0047 | 1927 | c.19+ others(1942): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173044 | C | CCTCTCCT others(1920): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0052 | 1 | 117 | 0.0085 | 1927 | c.*11 others(1948): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997259 | G | GGGGGGCG others(1920): Show |
upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 356 | 0.0028 | 1927 | c.-22 others(1938): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 411 | chr6 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1920): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0011 a0001c0002t0007g0012 |
2 | 3 | 0.6667 | 1927 | c.162 others(1946): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1920): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 210 | 0.0048 | 1927 | c.*22 others(1938): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1920): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 210 | 0.0048 | 1927 | c.*22 others(1938): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1920): Show |
downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 210 | 0.0048 | 1927 | c.*22 others(1938): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1920): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 28 | 0.0357 | 1927 | c.-50 others(1938): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1920): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0074 | 1 | 35 | 0.0286 | 1927 | c.-28 others(1946): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar |