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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP3_chr10_132060946_132189858 | 132173084 | T | TCTCTCTC others(2069): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0025 | a0002c0025t0008 | a0002c0025t0008g0033 | 1 | 142 | 0.0070 | 2076 | c.*11 others(2097): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2069): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01256.hp2 HG02602.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0013a0002c0001a0002c0039others(2): Show | a0001c0013t0009a0002c0001t0001a0002c0039t0015others(2): Show | a0001c0013t0009g0003 a0002c0001t0001g0220 a0002c0039t0015g0226 others(2): Show |
5 | 40 | 0.1250 | 2076 | c.816 others(2093): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41559361 | C | CATGATTT others(2069): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0056 | 1 | 57 | 0.0175 | 2076 | c.322 others(2095): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41559361 | C | CATGATTT others(2069): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 57 | 0.0175 | 2076 | c.322 others(2095): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41559372 | A | ATCCTTTG others(2069): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0007 | a0007c0005 | a0007c0005t0001 | a0007c0005t0001g0066 | 1 | 70 | 0.0143 | 2076 | c.322 others(2095): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2070): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 44 | 0.0227 | 2077 | c.108 others(2094): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2070): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 44 | 0.0227 | 2077 | c.108 others(2094): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763760 | C | CCTCCTCC others(2070): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0121 | 1 | 201 | 0.0050 | 2077 | c.108 others(2094): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCTCTC others(2070): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0004 | a0004c0007 | a0004c0007t0011 | a0004c0007t0011g0067 | 1 | 95 | 0.0105 | 2077 | c.*11 others(2098): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2070): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02630.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0028 | a0001c0001t0018g0083 a0001c0001t0018g0085 a0001c0001t0028g0084 |
3 | 226 | 0.0133 | 2077 | c.*39 others(2088): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492393 | T | TTCCCGGG others(2070): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214 | 1 | 263 | 0.0038 | 2077 | c.126 others(2096): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246324984 | C | CGGGGGGG others(2070): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0110 | 1 | 132 | 0.0076 | 2077 | c.531 others(2094): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2071): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 44 | 0.0227 | 2078 | c.108 others(2095): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2071): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 50 | 0.0200 | 2078 | c.147 others(2095): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2071): Show |
intron_variant | MODIFIER | HG04115.hp1 NA20905.hp2 |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003 | a0003c0003t0002g0034 a0003c0003t0003g0033 |
2 | 31 | 0.0645 | 2078 | c.445 others(2093): 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(2071): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 30 | 0.0333 | 2078 | c.445 others(2093): 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(2071): Show |
intron_variant | MODIFIER | HG02129.hp1 NA19074.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0291 |
3 | 32 | 0.0938 | 2078 | c.445 others(2093): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2071): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 4 | 0.2500 | 2078 | c.972 others(2091): 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(2071): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 4 | 0.2500 | 2078 | c.972 others(2091): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189669 | G | GAGGAAGG others(2071): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 45 | 0.0222 | 2078 | c.-36 others(2099): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2072): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 44 | 0.0227 | 2079 | c.108 others(2096): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2072): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 44 | 0.0227 | 2079 | c.108 others(2096): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2072): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0099 | 1 | 176 | 0.0057 | 2079 | c.373 others(2096): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2072): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 2 | 177 | 0.0113 | 2079 | c.373 others(2096): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2072): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0246 | 1 | 176 | 0.0057 | 2079 | c.373 others(2096): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2072): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02109.hp2 HG02717.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 a0001c0003t0001g0291 a0001c0003t0001g0293 |
3 | 178 | 0.0169 | 2079 | c.373 others(2096): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2072): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0044 | 1 | 176 | 0.0057 | 2079 | c.373 others(2096): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2072): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0243 | 1 | 2 | 0.5000 | 2079 | c.126 others(2096): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2072): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 209 | 0.0048 | 2079 | c.*50 others(2090): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2072): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0026 | 1 | 209 | 0.0048 | 2079 | c.*50 others(2090): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2072): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02109.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 a0001c0001t0002g0053 |
4 | 212 | 0.0189 | 2079 | c.*50 others(2090): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(2072): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 3 | 0.3333 | 2079 | c.-16 others(2090): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2072): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0176 | 1 | 224 | 0.0045 | 2079 | c.*39 others(2090): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431931 | T | TAGGGTGG others(2072): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0174 | 1 | 320 | 0.0031 | 2079 | c.101 others(2098): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2072): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 28 | 0.0357 | 2079 | c.-50 others(2090): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 29063614 | C | CGGGGAGT others(2073): Show |
intron_variant | MODIFIER | HG03195.hp2 HG06807.hp2 |
a0002 | a0002c0006 | a0002c0006t0017 | a0002c0006t0017g0114 a0002c0006t0017g0203 |
2 | 114 | 0.0175 | 2080 | c.951 others(2097): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGTGG others(2073): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0004 | a0001c0004t0028 | a0001c0004t0028g0135 | 1 | 11 | 0.0909 | 2080 | c.-26 others(2089): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364519 | G | GCGCTTAC others(2073): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 207 | 0.0048 | 2080 | c.129 others(2097): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2074): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01099.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0047 | a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0182 others(3): Show |
6 | 49 | 0.1224 | 2081 | c.108 others(2098): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(2074): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 82 | 0.0122 | 2081 | c.106 others(2100): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2074): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0291 | 1 | 50 | 0.0200 | 2081 | c.147 others(2098): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3037096 | A | ATTATATA others(2074): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0008 a0004c0006t0001g0009 |
2 | 185 | 0.0108 | 2081 | c.-45 others(2092): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4374 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3037096 | A | ATTATATA others(2074): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0020 | 2 | 239 | 0.0084 | 2081 | c.*37 others(2092): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2986 | chrX | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTC others(2074): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0151 | 1 | 32 | 0.0313 | 2081 | c.289 others(2098): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494625 | G | GGGGACGG others(2074): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0083 | a0001c0003t0083g0291 | 1 | 300 | 0.0033 | 2081 | c.*39 others(2092): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2632 | chr7 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCTCCAC others(2075): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0038 | 1 | 40 | 0.0250 | 2082 | c.179 others(2103): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50935363 | A | AGAGACAA others(2075): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0191 | 1 | 384 | 0.0026 | 2082 | c.943 others(2097): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50935363 | A | AGAGACAA others(2075): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02486.hp1 HG02615.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0186 a0002c0003t0006g0187 a0002c0003t0006g0188 others(2): Show |
5 | 388 | 0.0129 | 2082 | c.943 others(2097): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2075): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 39 | 0.0256 | 2082 | c.177 others(2101): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896503 | G | GGGGTGTG others(2075): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 29 | 0.0345 | 2082 | c.161 others(2097): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar |