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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
THEG_chr19_356747_381026 | 361331 | G | GGCTGGTT others(1849): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0003 | a0003c0003t0023 | a0003c0003t0023g0055 | 1 | 365 | 0.0027 | 1856 | c.*86 others(1865): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 415 | chr19 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1849): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 146 | 0.0068 | 1856 | c.114 others(1873): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(1850): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 13 | 0.0769 | 1857 | c.354 others(1876): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1850): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0086 | 1 | 2 | 0.5000 | 1857 | c.-52 others(1878): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1850): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 3 | 6 | 0.5000 | 1857 | c.972 others(1870): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997362 | G | GCGGGGGA others(1850): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 323 | 0.0031 | 1857 | c.-21 others(1868): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 308 | chr6 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195760489 | G | GTGGAGGG others(1850): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0089 | a0089c0110 | a0089c0110t0001 | a0089c0110t0001g0018 | 1 | 243 | 0.0041 | 1857 | c.148 others(1876): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1850): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02630.hp1 HG02970.hp2 others(2): Show |
a0005a0015a0018others(1): Show | a0005c0050a0015c0034a0018c0047others(1): Show | a0005c0050t0001a0015c0034t0005a0018c0047t0001others(1): Show | a0005c0050t0001g0119 a0015c0034t0005g0217 a0015c0034t0005g0259 others(2): Show |
5 | 16 | 0.3125 | 1857 | c.228 others(1874): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1850): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 HG03453.hp2 |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 2 | 9 | 0.2222 | 1857 | c.-20 others(1868): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1850): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 1 | 8 | 0.1250 | 1857 | c.-20 others(1868): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23768190 | T | TTTAAATA others(1850): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0077 | a0002c0002t0077g0118 | 1 | 364 | 0.0027 | 1857 | c.-30 others(1876): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1851): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 2 | 0.5000 | 1858 | c.44- others(1871): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1851): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 69 | 0.0145 | 1858 | c.*52 others(1869): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TGGTGATG others(1851): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0009 | a0009c0044 | a0009c0044t0008 | a0009c0044t0008g0100 | 1 | 24 | 0.0417 | 1858 | c.366 others(1877): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1851): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 75 | 0.0133 | 1858 | c.*69 others(1869): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105162672 | C | CCCCAGGT others(1851): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 358 | 0.0028 | 1858 | c.418 others(1875): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952257 | C | CAGACCAA others(1851): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 233 | 0.0043 | 1858 | c.360 others(1877): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952378 | G | GGTCAGAG others(1851): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 114 | 0.0088 | 1858 | c.360 others(1877): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237783 | A | AATAGTAT others(1851): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 312 | 0.0032 | 1858 | c.-15 others(1869): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1502 | chr14 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1851): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 65 | 0.0154 | 1858 | c.4-1 others(1871): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1851): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0205 | 1 | 34 | 0.0294 | 1858 | c.299 others(1873): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1852): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0039 | 1 | 30 | 0.0333 | 1859 | c.445 others(1874): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471325 | A | AATACATG others(1852): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0074 | 1 | 136 | 0.0074 | 1859 | c.183 others(1878): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1852): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0124 | 1 | 15 | 0.0667 | 1859 | c.-5+ others(1872): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IPP_chr1_45693711_45755653 | 45710646 | A | AAAAAAAA others(1852): Show |
intron_variant | MODIFIER | HG02717.hp2 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 a0002c0002t0001g0084 |
2 | 52 | 0.0385 | 1859 | c.153 others(1878): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1852): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0002 | a0003c0002t0019 | a0003c0002t0019g0093 | 1 | 95 | 0.0105 | 1859 | c.*11 others(1880): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1852): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0158 | 1 | 95 | 0.0105 | 1859 | c.*11 others(1880): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439372 | C | CAGAGACC others(1852): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0031 | a0001c0031t0035 | a0001c0031t0035g0213 | 1 | 153 | 0.0065 | 1859 | c.816 others(1876): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1852): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0181 | 1 | 2 | 0.5000 | 1859 | c.162 others(1878): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344644 | A | AGGGGGTT others(1852): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0205 | 1 | 342 | 0.0029 | 1859 | c.4-1 others(1872): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1852): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 5 | 0.2000 | 1859 | c.189 others(1878): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502691 | A | ACGAGGGG others(1852): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 170 | 0.0059 | 1859 | c.147 others(1876): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 314954 | T | TCCACCTC others(1852): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0119 a0001c0001t0002g0069 a0001c0001t0003g0083 others(2): Show |
5 | 120 | 0.0417 | 1859 | c.351 others(1876): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1852): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 277 | 0.0036 | 1859 | c.129 others(1876): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1853): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0026 | 1 | 69 | 0.0145 | 1860 | c.*52 others(1871): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16636350 | A | ATGCCACT others(1853): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 224 | 0.0045 | 1860 | c.139 others(1879): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471294 | A | AATACATG others(1853): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 142 | 0.0070 | 1860 | c.183 others(1879): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399335 | C | CACCACCA others(1853): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 291 | 0.0034 | 1860 | c.-25 others(1877): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399406 | C | CCACCACC others(1853): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0195 | 1 | 304 | 0.0033 | 1860 | c.-25 others(1877): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105162474 | C | CAAAGCCC others(1853): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 231 | 0.0043 | 1860 | c.418 others(1877): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173048 | T | TCCTTCCC others(1853): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0005 | a0005c0050 | a0005c0050t0032 | a0005c0050t0032g0116 | 1 | 151 | 0.0066 | 1860 | c.*11 others(1881): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767634 | C | CGCGTGGA others(1853): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 335 | 0.0030 | 1860 | c.159 others(1877): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGG others(1853): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 154 | 0.0065 | 1860 | c.360 others(1879): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34665840 | A | AAGAACAG others(1853): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0053 | 1 | 28 | 0.0357 | 1860 | c.222 others(1879): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1853): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0006 | a0006c0012 | a0006c0012t0005 | a0006c0012t0005g0030 | 1 | 8 | 0.1250 | 1860 | c.-20 others(1871): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(1853): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0001 | a0002c0001t0031 | a0002c0001t0031g0156 | 1 | 174 | 0.0057 | 1860 | c.299 others(1877): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TMEM132B_chr12_125181386_125667369 | 125358341 | T | TATCTTTT others(1853): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0058 | 1 | 128 | 0.0078 | 1860 | c.959 others(1877): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(1853): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0174 | 1 | 250 | 0.0040 | 1860 | c.227 others(1877): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130050211 | A | AGAACACA others(1854): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 262 | 0.0038 | 1861 | c.*45 others(1872): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1892 | chr8 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1854): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 a0001c0001t0003g0140 |
2 | 76 | 0.0263 | 1861 | c.*69 others(1872): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar |