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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(2014): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0208 | 1 | 334 | 0.0030 | 2021 | c.45- others(2036): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2014): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2021 | c.*44 others(2032): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 356450 | G | GTCTTCAC others(2014): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 133 | 0.0075 | 2021 | c.-39 others(2032): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3644 | chr17 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2014): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 356 | 0.0028 | 2021 | c.114 others(2038): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1739135 | A | AGCCTGAT others(2014): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0013 | 1 | 431 | 0.0023 | 2021 | c.*14 others(2032): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 551 | chr17 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2015): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0189 | 1 | 224 | 0.0045 | 2022 | c.489 others(2041): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2015): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0040 | a0002c0040t0003 | a0002c0040t0003g0137 | 1 | 224 | 0.0045 | 2022 | c.489 others(2041): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2015): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01361.hp2 HG01891.hp1 others(18): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0005others(8): Show | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0062others(18): Show | 21 | 224 | 0.0938 | 2022 | c.489 others(2041): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2015): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 159 | 0.0063 | 2022 | c.-90 others(2037): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2015): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0113 | 1 | 159 | 0.0063 | 2022 | c.-90 others(2037): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2015): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 159 | 0.0063 | 2022 | c.-90 others(2037): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2015): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0062 | 1 | 159 | 0.0063 | 2022 | c.-90 others(2037): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911541 | C | CTGTCCTG others(2015): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0016 | a0016c0020 | a0016c0020t0001 | a0016c0020t0001g0016 | 1 | 170 | 0.0059 | 2022 | c.101 others(2041): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997382 | G | GGGGCGAC others(2015): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0240 | 1 | 375 | 0.0027 | 2022 | c.-20 others(2033): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 288 | chr6 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1186007 | G | GGTCAGCG others(2016): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0135 | a0002c0135t0043 | a0002c0135t0043g0282 | 1 | 338 | 0.0030 | 2023 | c.300 others(2040): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2016): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 316 | 0.0032 | 2023 | c.44- others(2036): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2016): Show |
intron_variant | MODIFIER | NA19066.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 316 | 0.0063 | 2023 | c.44- others(2036): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2016): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01943.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 5 | 316 | 0.0158 | 2023 | c.44- others(2036): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2016): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 2 | 316 | 0.0063 | 2023 | c.44- others(2036): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2016): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0114 | 1 | 159 | 0.0063 | 2023 | c.-90 others(2038): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2016): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 159 | 0.0063 | 2023 | c.-90 others(2038): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2016): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 159 | 0.0063 | 2023 | c.-90 others(2038): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2016): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03239.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0117a0001c0001t0003g0118a0001c0001t0003g0133 | 3 | 159 | 0.0189 | 2023 | c.-90 others(2038): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2016): Show |
intron_variant | MODIFIER | HG01169.hp2 HG04184.hp1 NA18966.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0003 | a0001c0001t0001g0013a0001c0001t0003g0045a0001c0002t0003g0119 | 3 | 159 | 0.0189 | 2023 | c.-90 others(2038): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725636 | A | ATGGCCAG others(2016): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0299 | 1 | 324 | 0.0031 | 2023 | c.340 others(2040): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCLK2_chr4_150073445_150262438 | 150251268 | C | CCACATCC others(2016): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 116 | 0.0086 | 2023 | c.207 others(2042): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(2016): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 204 | 0.0049 | 2023 | c.978 others(2040): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2016): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01099.hp1 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0105 | a0001c0001t0034g0282a0001c0001t0105g0283 | 2 | 302 | 0.0066 | 2023 | c.*39 others(2034): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(2016): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 432 | 0.0023 | 2023 | c.-20 others(2034): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1739135 | A | AGCCTGAT others(2016): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 445 | 0.0023 | 2023 | c.-37 others(2034): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3735 | chr17 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1740324 | A | AGCCGGAC others(2016): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 445 | 0.0023 | 2023 | c.-25 others(2034): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2546 | chr17 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1739135 | A | AGCCTGAT others(2016): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 | a0003 | a0003c0011 | a0003c0011t0003 | a0003c0011t0003g0002 | 1 | 431 | 0.0023 | 2023 | c.*14 others(2034): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 551 | chr17 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763752 | T | TCTCCTCT others(2017): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0024 | a0024c0024 | a0024c0024t0052 | a0024c0024t0052g0187 | 1 | 218 | 0.0046 | 2024 | c.108 others(2041): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2017): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 316 | 0.0032 | 2024 | c.44- others(2037): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 159 | 0.0063 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0030 | 1 | 159 | 0.0063 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0108 | 1 | 159 | 0.0063 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0063 | 1 | 159 | 0.0063 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 159 | 0.0063 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 159 | 0.0063 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2017): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 159 | 0.0063 | 2024 | c.-90 others(2039): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154063618 | A | ACGAGGCA others(2017): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0009 | 1 | 38 | 0.0263 | 2024 | c.243 others(2043): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
H2AC15_chr6_27832880_27843375 | 27838482 | T | TGAAAAAC others(2017): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 408 | 0.0025 | 2024 | c.-14 others(2033): Show |
H2AC15 | ENSG00000275221.2 | transcript | ENST00000618958.2 | protein_coding | 108 | chr6 | TogoVar | ||||||
H2BC15_chr6_27833569_27844110 | 27838482 | T | TGAAAAAC others(2017): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | 2024 | c.-18 others(2033): Show |
H2BC15 | ENSG00000233822.6 | transcript | ENST00000612898.2 | protein_coding | 86 | chr6 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149564 | C | CGCCGCCT others(2017): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 294 | 0.0034 | 2024 | c.901 others(2039): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150395 | C | CGCCGCCT others(2017): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 294 | 0.0034 | 2024 | c.902 others(2039): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150756 | G | GCTCACAC others(2017): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 294 | 0.0034 | 2024 | c.902 others(2039): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2017): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0122 | a0001c0001t0122g0228 | 1 | 302 | 0.0033 | 2024 | c.*39 others(2035): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585257 | C | CCTTTCCA others(2017): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0036 | 1 | 279 | 0.0036 | 2024 | c.215 others(2041): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POLE_chr12_132618762_132692342 | 132684770 | G | GTATCACA others(2017): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0182 | 1 | 292 | 0.0034 | 2024 | c.62+ others(2039): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 1/48 | chr12 | TogoVar |