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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2062): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 17 | 0.0588 | 2069 | c.125 others(2086): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024811 | A | ACAGGAAT others(2062): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 | 1 | 102 | 0.0098 | 2069 | c.427 others(2088): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2063): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 NA18906.hp1 |
a0006 | a0006c0007 | a0006c0007t0007 | a0006c0007t0007g0049 a0006c0007t0007g0051 a0006c0007t0007g0052 |
3 | 46 | 0.0652 | 2070 | c.108 others(2087): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2063): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0019 | 1 | 44 | 0.0227 | 2070 | c.108 others(2087): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2063): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0030 | a0002c0030t0007 | a0002c0030t0007g0261 | 1 | 50 | 0.0200 | 2070 | c.147 others(2087): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14374988 | T | TTTTTTTT others(2063): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 341 | 0.0029 | 2070 | c.-8+ others(2085): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2063): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0058 | a0002c0058t0003 | a0002c0058t0003g0114 | 1 | 2 | 0.5000 | 2070 | c.126 others(2087): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185145 | C | CTTCCCCC others(2063): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0057 | a0057c0050 | a0057c0050t0001 | a0057c0050t0001g0009 | 1 | 132 | 0.0076 | 2070 | c.193 others(2089): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GAGGGGGA others(2063): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 | 1 | 215 | 0.0047 | 2070 | c.157 others(2085): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(2063): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 64 | 0.0156 | 2070 | c.107 others(2089): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(2063): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0101 |
2 | 65 | 0.0308 | 2070 | c.107 others(2089): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2063): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 66 | 0.0152 | 2070 | c.*68 others(2081): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2063): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0050 | a0001c0001t0022g0215 a0001c0001t0050g0121 |
2 | 67 | 0.0299 | 2070 | c.*68 others(2081): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2063): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 HG02145.hp1 HG02523.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0020a0001c0001t0066a0001c0005t0020 | a0001c0001t0020g0068 a0001c0001t0020g0263 a0001c0001t0066g0171 others(1): Show |
4 | 69 | 0.0580 | 2070 | c.*68 others(2081): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2063): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0039 | a0001c0001t0017g0020 a0001c0001t0017g0023 a0001c0001t0017g0090 others(2): Show |
5 | 70 | 0.0714 | 2070 | c.*68 others(2081): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2063): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 227 | 0.0044 | 2070 | c.-25 others(2087): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399439 | C | CCACCGCC others(2063): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 297 | 0.0034 | 2070 | c.-25 others(2087): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCTC others(2063): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0065 | 1 | 17 | 0.0588 | 2070 | c.*11 others(2091): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583342 | G | GCAGCCAC others(2063): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 193 | 0.0052 | 2070 | c.377 others(2087): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876901 | G | GGGAAGTT others(2063): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 181 | 0.0055 | 2070 | c.224 others(2089): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877099 | G | GGGAGGTT others(2063): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 240 | 0.0042 | 2070 | c.224 others(2089): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2063): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 2 | 219 | 0.0091 | 2070 | c.*44 others(2081): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2063): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 218 | 0.0046 | 2070 | c.*44 others(2081): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2063): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG01433.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0034 | a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0204 others(5): Show |
8 | 152 | 0.0526 | 2070 | c.327 others(2087): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2063): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 145 | 0.0069 | 2070 | c.327 others(2087): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2063): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp1 others(37): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(4): Show | a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0020 others(35): Show |
40 | 184 | 0.2174 | 2070 | c.327 others(2087): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2063): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 145 | 0.0069 | 2070 | c.327 others(2087): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2063): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 | 1 | 145 | 0.0069 | 2070 | c.327 others(2087): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2063): Show |
intron_variant | MODIFIER | NA18960.hp2 NA18974.hp1 NA19002.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 others(2): Show |
5 | 149 | 0.0336 | 2070 | c.327 others(2087): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294472 | A | ACAGCCAC others(2063): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 | 1 | 308 | 0.0032 | 2070 | c.340 others(2087): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2064): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0006 | a0006c0037 | a0006c0037t0020 | a0006c0037t0020g0043 | 1 | 44 | 0.0227 | 2071 | c.108 others(2088): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2064): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 44 | 0.0227 | 2071 | c.108 others(2088): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2064): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 | 1 | 195 | 0.0051 | 2071 | c.62+ others(2084): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2064): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0041 | 1 | 69 | 0.0145 | 2071 | c.*52 others(2082): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2064): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0071 | 1 | 97 | 0.0103 | 2071 | c.101 others(2090): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0093 | 1 | 66 | 0.0152 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0211 | 1 | 66 | 0.0152 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0112 | 1 | 66 | 0.0152 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0104 a0001c0002t0013g0119 |
2 | 67 | 0.0299 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0087 | 1 | 66 | 0.0152 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0150 a0001c0001t0011g0152 |
2 | 67 | 0.0299 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0022a0001c0001t0030others(5): Show | a0001c0001t0011g0055 a0001c0001t0011g0132 a0001c0001t0011g0213 others(11): Show |
14 | 79 | 0.1772 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0222 | 1 | 66 | 0.0152 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02109.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0024a0001c0001t0082others(1): Show | a0001c0001t0009g0008 a0001c0001t0009g0057 a0001c0001t0009g0067 others(8): Show |
15 | 80 | 0.1875 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0068 a0001c0001t0020g0262 |
2 | 67 | 0.0299 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0023 | 1 | 66 | 0.0152 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0198 | 1 | 66 | 0.0152 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2064): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0055 | 1 | 66 | 0.0152 | 2071 | c.*68 others(2082): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439414 | C | CAGAGAGA others(2064): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0118 | a0002c0118t0005 | a0002c0118t0005g0149 | 1 | 201 | 0.0050 | 2071 | c.816 others(2088): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
PPP2R2D_chr10_131896008_131964834 | 131958988 | A | ACTGTGGA others(2064): Show |
3_prime_UTR_variant | MODIFIER | NA18992.hp2 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 a0001c0001t0003g0133 |
2 | 253 | 0.0079 | 2071 | c.*30 others(2082): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 9/9 | 3035 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |