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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1629): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 340 | 0.0029 | 1636 | c.-27 others(1645): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1629): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0145 | 1 | 340 | 0.0029 | 1636 | c.-27 others(1645): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1629): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 340 | 0.0029 | 1636 | c.-27 others(1645): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1629): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0025 | 1 | 340 | 0.0029 | 1636 | c.-27 others(1645): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1629): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0239 | 1 | 340 | 0.0029 | 1636 | c.-27 others(1645): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1629): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG03139.hp1 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0016 | a0001c0001t0003g0018 a0001c0001t0003g0205 a0001c0001t0014g0310 others(1): Show |
6 | 340 | 0.0177 | 1636 | c.-27 others(1645): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647359 | A | ACAATCCT others(1630): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0259 | 1 | 276 | 0.0036 | 1637 | c.*52 others(1648): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2015 | chr15 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(1630): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0276 | 1 | 298 | 0.0034 | 1637 | c.126 others(1654): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716247 | G | GTTGGTGT others(1630): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 170 | 0.0059 | 1637 | c.86- others(1650): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355485 | A | AGGAGAAA others(1630): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 82 | 0.0122 | 1637 | c.758 others(1652): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1630): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 418 | 0.0024 | 1637 | c.119 others(1656): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1630): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110 | 1 | 168 | 0.0060 | 1637 | c.338 others(1656): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1630): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03471.hp2 |
a0001a0028 | a0001c0014a0028c0031 | a0001c0014t0001a0028c0031t0001 | a0001c0014t0001g0097 a0028c0031t0001g0096 |
2 | 168 | 0.0119 | 1637 | c.338 others(1656): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1630): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 402 | 0.0025 | 1637 | c.292 others(1656): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1630): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 402 | 0.0025 | 1637 | c.292 others(1656): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1630): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03239.hp2 HG03654.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 a0001c0001t0001g0232 a0001c0001t0001g0233 others(2): Show |
5 | 402 | 0.0124 | 1637 | c.292 others(1656): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1630): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0189 | 1 | 402 | 0.0025 | 1637 | c.292 others(1656): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1630): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01257.hp2 others(4): Show |
a0001a0018 | a0001c0001a0018c0032 | a0001c0001t0004a0018c0032t0004 | a0001c0001t0004g0012 a0001c0001t0004g0166 a0001c0001t0004g0190 others(3): Show |
7 | 402 | 0.0174 | 1637 | c.292 others(1656): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1630): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0196 | 1 | 402 | 0.0025 | 1637 | c.292 others(1656): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1630): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0183 | 1 | 402 | 0.0025 | 1637 | c.292 others(1656): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1630): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 402 | 0.0025 | 1637 | c.292 others(1656): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1630): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 a0001c0001t0001g0242 |
2 | 402 | 0.0050 | 1637 | c.292 others(1656): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173084 | T | TCTCTCTC others(1630): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0014 | 1 | 158 | 0.0063 | 1637 | c.*11 others(1658): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1630): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0009 | a0009c0010 | a0009c0010t0005 | a0009c0010t0005g0008 | 1 | 282 | 0.0036 | 1637 | c.299 others(1652): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1630): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0252 | 1 | 376 | 0.0027 | 1637 | c.141 others(1654): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35714092 | A | ATATAGTA others(1630): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0144 | 1 | 268 | 0.0037 | 1637 | c.291 others(1656): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1630): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 HG03927.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0253 a0001c0001t0001g0306 a0001c0001t0002g0292 |
3 | 340 | 0.0088 | 1637 | c.-27 others(1646): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1630): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 a0001c0001t0001g0294 |
2 | 340 | 0.0059 | 1637 | c.-27 others(1646): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1630): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG03669.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0091 others(2): Show |
5 | 340 | 0.0147 | 1637 | c.-27 others(1646): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1630): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 340 | 0.0029 | 1637 | c.-27 others(1646): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111851 | G | GCACCTCC others(1631): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289 | 1 | 368 | 0.0027 | 1638 | c.401 others(1655): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654756 | A | ATTCTCCC others(1631): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 |
a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0038 a0002c0007t0004g0040 |
2 | 394 | 0.0051 | 1638 | c.-52 others(1655): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654756 | A | ATTCTCCC others(1631): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0039 | 1 | 394 | 0.0025 | 1638 | c.-52 others(1655): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654776 | G | GTCTTGTA others(1631): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01168.hp2 HG01517.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0037 a0004c0005t0001g0094 a0004c0005t0001g0166 |
3 | 394 | 0.0076 | 1638 | c.-52 others(1655): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1631): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0058 | 1 | 58 | 0.0172 | 1638 | c.510 others(1657): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1631): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 58 | 0.0172 | 1638 | c.510 others(1657): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCL25_chr19_8047760_8067650 | 8057263 | G | GCCCGCCT others(1631): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0050 | 1 | 428 | 0.0023 | 1638 | c.326 others(1653): Show |
CCL25 | ENSG00000131142.14 | transcript | ENST00000315626.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1631): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 175 | 0.0057 | 1638 | c.164 others(1657): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500731 | G | GGTGTGTG others(1631): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0025 | a0025c0101 | a0025c0101t0011 | a0025c0101t0011g0075 | 1 | 292 | 0.0034 | 1638 | c.268 others(1657): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1631): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0024 | a0002c0024t0001 | a0002c0024t0001g0078 | 1 | 298 | 0.0034 | 1638 | c.126 others(1655): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1206322 | T | TGGGGTAG others(1631): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0037 | 1 | 40 | 0.0250 | 1638 | c.74- others(1655): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1631): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0265 | 1 | 290 | 0.0035 | 1638 | c.162 others(1657): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1631): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 168 | 0.0060 | 1638 | c.338 others(1657): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1631): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0061 | 1 | 168 | 0.0060 | 1638 | c.338 others(1657): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1631): Show |
intron_variant | MODIFIER | HG00741.hp2 HG06807.hp1 |
a0003a0018 | a0003c0007a0018c0023 | a0003c0007t0001a0018c0023t0001 | a0003c0007t0001g0156 a0018c0023t0001g0157 |
2 | 168 | 0.0119 | 1638 | c.338 others(1657): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1631): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 402 | 0.0025 | 1638 | c.292 others(1657): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583450 | G | GCAGCCAC others(1631): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0004 | a0004c0111 | a0004c0111t0002 | a0004c0111t0002g0101 | 1 | 292 | 0.0034 | 1638 | c.377 others(1655): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1631): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 456 | 0.0022 | 1638 | c.*31 others(1649): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(1631): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0190 | 1 | 295 | 0.0034 | 1638 | c.715 others(1655): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089406 | T | TTAATGTT others(1631): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 304 | 0.0033 | 1638 | c.347 others(1653): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | chrX | TogoVar |