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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRBA_chr4_150259435_151020284 | 150954410 | GTTCTGTA others(10050): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02622.hp2 others(15): Show |
a0001a0014a0016 | a0001c0001a0001c0014a0001c0032others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 others(15): Show |
18 | 178 | 0.1011 | -10057 | c.217 others(19): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 2/56 | chr4 | TogoVar | |||||||
CLSTN1_chr1_9723926_9828965 | 9786592 | GAGATTGT others(10034): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG01257.hp1 HG01258.hp1 others(22): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0007 | a0001c0003t0006a0002c0002t0002a0002c0002t0012others(1): Show | a0001c0003t0006g0096 a0002c0002t0002g0071 a0002c0002t0002g0072 others(22): Show |
25 | 268 | 0.0933 | -10041 | c.92- others(17): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
SLC1A1_chr9_4485468_4592469 | 4526798 | AGTTGTAG others(10012): Show |
A | intron_variant | MODIFIER | NA19003.hp1 NA19057.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0126 a0001c0002t0002g0348 |
2 | 382 | 0.0052 | -10019 | c.92- others(16): Show |
SLC1A1 | ENSG00000106688.12 | transcript | ENST00000262352.8 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
RFPL4AL1_chr19_55764118_55778420 | 55764937 | TTTTTGTT others(9996): Show |
T | transcript_ablation | HIGH | HG00323.hp2 | a0004 | a0004c0000 | a0004c0000t0000 | a0004c0000t0000g0000 | 1 | 473 | 0.0021 | -10003 | c.-42 others(11): Show |
p.0? | RFPL4AL1 | ENSG00000229292.2 | transcript | ENST00000341750.5 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
RFPL4A_chr19_55754097_55768421 | 55757393 | TTGCTTGT others(9995): Show |
T | transcript_ablation | HIGH | HG03688.hp1 HG03831.hp2 NA20905.hp2 |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 3 | 460 | 0.0065 | -10002 | c.-17 others(11): Show |
p.0? | RFPL4A | ENSG00000223638.4 | transcript | ENST00000434937.3 | protein_coding | 3/3 | chr19 | TogoVar |