view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3844): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 402 | 0.0025 | 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 | 420 | 0.0024 | 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 | 402 | 0.0025 | 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 | 170 | 0.0059 | 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 | 420 | 0.0048 | 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 | a0001c0001t0001g0115 | 1 | 342 | 0.0029 | 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 | 170 | 0.0059 | 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 | a0001c0001t0001g0043 | 2 | 402 | 0.0050 | 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 | 298 | 0.0034 | 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 | 420 | 0.0024 | 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 | 170 | 0.0059 | 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 | 402 | 0.0025 | 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 | 420 | 0.0024 | 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 | 308 | 0.0033 | 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 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 25 | 0.0400 | 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 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0014 | 1 | 25 | 0.0400 | 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 | a0001c0001t0001g0122 | 1 | 242 | 0.0041 | 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 | a0001c0001t0001g0106 | 1 | 402 | 0.0025 | 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 | 420 | 0.0024 | 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 | a0004c0006t0013 | a0004c0006t0013g0018 | 1 | 280 | 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 | 402 | 0.0025 | 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 | 394 | 0.0025 | 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 | 420 | 0.0024 | 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 | a0001c0001t0005g0019 | 1 | 370 | 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 | a0001c0001t0001g0020 | 1 | 402 | 0.0025 | 3859 | c.*22 others(3870): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3853): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | 3860 | c.-73 others(3869): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3853): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0044 | 1 | 420 | 0.0024 | 3860 | c.-73 others(3869): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3853): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | 3860 | c.-73 others(3869): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3853): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0006 | a0006c0116 | a0006c0116t0001 | a0006c0116t0001g0254 | 1 | 282 | 0.0036 | 3860 | c.299 others(3875): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3853): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 402 | 0.0025 | 3860 | c.*22 others(3871): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3853): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 402 | 0.0025 | 3860 | c.*22 others(3871): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3853): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0091 | 1 | 402 | 0.0025 | 3860 | c.*22 others(3871): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3854): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0050 | a0050c0114 | a0050c0114t0005 | a0050c0114t0005g0079 | 1 | 186 | 0.0054 | 3861 | c.723 others(3878): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172377986 | T | TCCTGTCC others(3854): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0004 | a0004c0006 | a0004c0006t0013 | a0004c0006t0013g0029 | 1 | 280 | 0.0036 | 3861 | c.401 others(3878): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 5/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172377986 | T | TCCTGTCC others(3854): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0065 | a0001c0003t0065g0048 | 1 | 280 | 0.0036 | 3861 | c.401 others(3878): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 5/12 | chr5 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3855): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | 3862 | c.-73 others(3871): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3855): Show |
upstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 420 | 0.0024 | 3862 | c.-73 others(3871): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172377986 | T | TCCTGTCC others(3855): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0004 | a0004c0006 | a0004c0006t0013 | a0004c0006t0013g0030 | 1 | 280 | 0.0036 | 3862 | c.401 others(3879): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 5/12 | chr5 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3855): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 402 | 0.0025 | 3862 | c.*22 others(3873): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3855): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0032 | 2 | 402 | 0.0050 | 3862 | c.*22 others(3873): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3856): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | 3863 | c.-73 others(3872): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3856): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | 3863 | c.-73 others(3872): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3856): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 NA18612.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0002a0001c0001t0014g0023 | 3 | 420 | 0.0071 | 3863 | c.-73 others(3872): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3856): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 236 | 0.0042 | 3863 | c.294 others(3880): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3856): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 402 | 0.0025 | 3863 | c.*22 others(3874): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3856): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 402 | 0.0025 | 3863 | c.*22 others(3874): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3856): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0103 | 2 | 402 | 0.0050 | 3863 | c.*22 others(3874): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3857): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | 3864 | c.-73 others(3873): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3857): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | 3864 | c.-73 others(3873): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3857): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0195 | 1 | 236 | 0.0042 | 3864 | c.294 others(3881): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar |