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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3839): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 3 | 0.3333 | 3846 | c.*14 others(3857): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3839): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 77 | 0.0130 | 3846 | c.186 others(3863): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3839): Show |
downstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 360 | 0.0028 | 3846 | c.*22 others(3857): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3839): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 360 | 0.0028 | 3846 | c.*22 others(3857): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3840): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 379 | 0.0026 | 3847 | c.-73 others(3856): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3840): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 379 | 0.0026 | 3847 | c.-73 others(3856): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3840): Show |
downstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 360 | 0.0028 | 3847 | c.*22 others(3858): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3840): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 NA18961.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0104 |
3 | 362 | 0.0083 | 3847 | c.*22 others(3858): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(3841): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0137 | 1 | 76 | 0.0132 | 3848 | c.955 others(3865): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3841): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02074.hp1 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 381 | 0.0079 | 3848 | c.-73 others(3857): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3841): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0131 a0001c0001t0015g0141 |
2 | 17 | 0.1176 | 3848 | c.164 others(3867): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262095 | G | GTGACCCT others(3841): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0168 | 1 | 234 | 0.0043 | 3848 | c.571 others(3865): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
TBC1D31_chr8_123067707_123157153 | 123070188 | A | ATATAGTA others(3841): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0018 | 1 | 320 | 0.0031 | 3848 | c.-25 others(3859): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 2518 | chr8 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3841): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG02074.hp2 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0098 |
3 | 362 | 0.0083 | 3848 | c.*22 others(3859): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3842): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 379 | 0.0026 | 3849 | c.-73 others(3858): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3842): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 379 | 0.0026 | 3849 | c.-73 others(3858): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3842): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 380 | 0.0053 | 3849 | c.-73 others(3858): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3842): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 379 | 0.0026 | 3849 | c.-73 others(3858): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176945 | A | ATACATAT others(3842): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 329 | 0.0030 | 3849 | c.366 others(3866): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3842): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 360 | 0.0028 | 3849 | c.*22 others(3860): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3842): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0080 |
2 | 361 | 0.0055 | 3849 | c.*22 others(3860): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3842): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 360 | 0.0028 | 3849 | c.*22 others(3860): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(3843): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 271 | 0.0037 | 3850 | c.-21 others(3861): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3843): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0146 | 1 | 20 | 0.0500 | 3850 | c.206 others(3869): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3843): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0004 | a0003c0004t0031 | a0003c0004t0031g0016 | 1 | 77 | 0.0130 | 3850 | c.186 others(3867): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3844): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 360 | 0.0028 | 3851 | c.*22 others(3862): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3845): Show |
upstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 379 | 0.0026 | 3852 | c.-73 others(3861): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3845): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 360 | 0.0028 | 3852 | c.*22 others(3863): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721200 | A | ACCCCCTC others(3846): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0049 | 1 | 154 | 0.0065 | 3853 | c.642 others(3870): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3847): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 380 | 0.0053 | 3854 | c.-73 others(3863): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(3847): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 233 | 0.0043 | 3854 | c.366 others(3871): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716401 | G | GTGGGGGA others(3847): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0067 | 1 | 168 | 0.0060 | 3854 | c.86- others(3867): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3847): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 2 | 361 | 0.0055 | 3854 | c.*22 others(3865): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(3849): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0267 | 1 | 251 | 0.0040 | 3856 | c.955 others(3873): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3849): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 379 | 0.0026 | 3856 | c.-73 others(3865): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721200 | A | ACCCCCTC others(3849): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0055 | 1 | 154 | 0.0065 | 3856 | c.642 others(3873): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3849): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 360 | 0.0028 | 3856 | c.*22 others(3867): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3850): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 379 | 0.0026 | 3857 | c.-73 others(3866): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGAAA others(3850): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 234 | 0.0043 | 3857 | c.157 others(3874): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 363690 | C | CGATCCCA others(3850): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0009 | 1 | 22 | 0.0455 | 3857 | c.325 others(3874): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 363690 | C | CGATCCCA others(3850): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015 | 1 | 22 | 0.0455 | 3857 | c.325 others(3874): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 412610 | G | GGTGCCCA others(3850): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 115 | 0.0087 | 3857 | c.-15 others(3876): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3850): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 360 | 0.0028 | 3857 | c.*22 others(3868): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3851): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 379 | 0.0026 | 3858 | c.-73 others(3867): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172377986 | T | TCCTGTCC others(3851): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0004 | a0004c0006 | a0004c0006t0014 | a0004c0006t0014g0018 | 1 | 275 | 0.0036 | 3858 | c.401 others(3875): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 5/12 | chr5 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3851): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 360 | 0.0028 | 3858 | c.*22 others(3869): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 486916 | A | ATATATTA others(3852): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0004 | a0003c0004t0048 | a0003c0004t0048g0047 | 1 | 392 | 0.0026 | 3859 | c.169 others(3878): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3852): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 379 | 0.0026 | 3859 | c.-73 others(3868): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333678 | G | GACTACTG others(3852): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0042 | 1 | 368 | 0.0027 | 3859 | c.891 others(3874): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3852): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 360 | 0.0028 | 3859 | c.*22 others(3870): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar |