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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(1906): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 271 | 0.0037 | 1913 | c.118 others(1932): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1117351 | T | TCCCAGCG others(1906): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0241 | 1 | 272 | 0.0037 | 1913 | c.246 others(1930): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1117351 | T | TCCCAGCG others(1906): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0104 | 1 | 272 | 0.0037 | 1913 | c.246 others(1930): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958136 | A | AACCATCA others(1906): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0160 | 1 | 192 | 0.0052 | 1913 | c.724 others(1932): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCGGTTTC others(1906): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 132 | 0.0076 | 1913 | c.107 others(1932): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1906): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0122 | 1 | 132 | 0.0076 | 1913 | c.107 others(1932): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1906): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 132 | 0.0076 | 1913 | c.107 others(1932): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131680806 | T | TCTGTGTG others(1906): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 79 | 0.0127 | 1913 | c.83- others(1932): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
TMC1_chr9_72516608_72843297 | 72647782 | A | AAACATTG others(1906): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0118 | 1 | 170 | 0.0059 | 1913 | c.-52 others(1928): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1907): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0148 | 1 | 50 | 0.0200 | 1914 | c.147 others(1931): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(1907): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 251 | 0.0040 | 1914 | c.955 others(1931): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585380 | T | TGAGGGAG others(1907): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0004 | a0002c0004t0024 | a0002c0004t0024g0055 | 1 | 333 | 0.0030 | 1914 | c.-22 others(1931): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293336 | T | TCACCTTC others(1907): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0206 | 1 | 248 | 0.0040 | 1914 | c.411 others(1931): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67465122 | T | TTAAAATA others(1907): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18960.hp2 NA18964.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0003a0002c0002t0017 | a0001c0001t0004g0043 a0002c0002t0003g0042 a0002c0002t0017g0040 |
3 | 45 | 0.0667 | 1914 | c.579 others(1933): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 5/17 | chr10 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1907): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0141 | 1 | 83 | 0.0120 | 1914 | c.724 others(1933): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1907): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0071 | 1 | 2 | 0.5000 | 1914 | c.126 others(1931): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716247 | G | GGTGTCAT others(1907): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0154 | 1 | 157 | 0.0064 | 1914 | c.86- others(1927): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1907): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02896.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0034others(1): Show | a0001c0001t0001g0163 a0001c0001t0003g0144 a0001c0001t0003g0164 others(4): Show |
7 | 83 | 0.0843 | 1914 | c.635 others(1933): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252896 | T | TCACCACC others(1907): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0238 | 1 | 279 | 0.0036 | 1914 | c.666 others(1931): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1907): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 209 | 0.0048 | 1914 | c.*50 others(1925): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399426 | A | ACCACCAT others(1907): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 285 | 0.0035 | 1914 | c.-25 others(1931): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323037 | A | AATATATA others(1907): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0084 | 1 | 296 | 0.0034 | 1914 | c.-20 others(1925): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1932 | chr21 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132622895 | C | CGTTCGTG others(1907): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 22 | 0.0455 | 1914 | c.117 others(1933): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(1907): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 207 | 0.0048 | 1914 | c.624 others(1931): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(1907): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 15 | 0.0667 | 1914 | c.61+ others(1933): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1907): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0005 | a0001c0005t0031 | a0001c0005t0031g0028 | 1 | 2 | 0.5000 | 1914 | c.162 others(1933): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950464 | T | TACTGGCA others(1907): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0198 a0001c0002t0003g0200 |
2 | 330 | 0.0061 | 1914 | c.-29 others(1925): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2775 | chr16 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45924018 | C | CGAGGAGA others(1907): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 168 | 0.0060 | 1914 | c.718 others(1931): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924575 | A | AGTGGGTA others(1907): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 185 | 0.0054 | 1914 | c.718 others(1931): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924976 | G | GTAGAAAC others(1907): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 203 | 0.0049 | 1914 | c.718 others(1931): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45925150 | C | CGAACACC others(1907): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 256 | 0.0039 | 1914 | c.718 others(1931): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(1907): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1914 | c.-20 others(1925): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(1907): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0044 | 1 | 8 | 0.1250 | 1914 | c.-20 others(1925): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693462 | T | TTCACCAC others(1907): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0006 | 1 | 22 | 0.0455 | 1914 | c.299 others(1931): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913400 | G | GAGTGTGT others(1907): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01978.hp2 HG01993.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 418 | 0.0167 | 1914 | c.*27 others(1925): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1715 | chr9 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1908): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0019 | a0019c0115 | a0019c0115t0001 | a0019c0115t0001g0069 | 1 | 31 | 0.0323 | 1915 | c.956 others(1932): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1908): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 132 | 0.0076 | 1915 | c.107 others(1934): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1908): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 132 | 0.0076 | 1915 | c.107 others(1934): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1908): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 132 | 0.0076 | 1915 | c.107 others(1934): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1908): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0091 | 1 | 132 | 0.0076 | 1915 | c.107 others(1934): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344644 | A | AGGGGGTT others(1908): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0211 | 1 | 342 | 0.0029 | 1915 | c.4-1 others(1928): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(1908): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 317 | 0.0032 | 1915 | c.114 others(1932): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939858 | A | AAAAGAAA others(1909): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0189 | 1 | 247 | 0.0040 | 1916 | c.403 others(1931): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471325 | A | AATACATG others(1909): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0095 | 1 | 136 | 0.0074 | 1916 | c.183 others(1935): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478072 | G | GAGAGGGG others(1909): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0035 | 1 | 85 | 0.0118 | 1916 | c.158 others(1933): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1909): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 135 | 0.0074 | 1916 | c.*31 others(1927): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950464 | T | TACTGGCA others(1909): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0205 | 1 | 329 | 0.0030 | 1916 | c.-29 others(1927): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2775 | chr16 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 282449 | C | CGCTCCCC others(1909): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 277 | 0.0036 | 1916 | c.541 others(1931): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397569 | C | CTGTCATC others(1909): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0187 | 1 | 242 | 0.0041 | 1916 | c.227 others(1933): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1909): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 126 | 0.0079 | 1916 | c.45- others(1931): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |