Item | Value |
---|---|
geneid | 1409 |
ensemblid | ENSG00000160202.7 |
hgncid | 2388 |
symbol | CRYAA |
name | crystallin alpha A |
refseq_nuc | NM_000394.4 |
refseq_prot | NP_000385.1 |
ensembl_nuc | ENST00000291554.6 |
ensembl_prot | ENSP00000291554.2 |
mane_status | MANE Select |
chr | chr21 |
start | 43169008 |
end | 43172805 |
strand | + |
ver | v1.2 |
region | chr21:43169008-43172805 |
region5000 | chr21:43164008-43177805 |
regionname0 | CRYAA_chr21_43169008_43172805 |
regionname5000 | CRYAA_chr21_43164008_43177805 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 173 | 33 | 11 | 4 | 5 | 6 | 7 | 2 | CRYAA_chr21_43164008_43177805 | CRYAA | MDVTI others(168): Show |
chr21 | 43164008 | 43177805 |
a0002 | 0/0 | 173 | 4 | 1 | 2 | 1 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | MDVTI others(168): Show |
chr21 | 43164008 | 43177805 |
a0003 | 0/0 | 146 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | MDVTI others(141): Show |
chr21 | 43164008 | 43177805 |
a0004 | 0/0 | 173 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | MDVTI others(168): Show |
chr21 | 43164008 | 43177805 |
a0005 | 0/0 | 186 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | MDVTI others(181): Show |
chr21 | 43164008 | 43177805 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 519 | 16 | 1 | 3 | 3 | 2 | 7 | CRYAA_chr21_43164008_43177805 | CRYAA | ATGGA others(514): Show |
chr21 | 43164008 | 43177805 | ||
a0001c0002 | 0/0 | 519 | 14 | 7 | 1 | 2 | 4 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | ATGGA others(514): Show |
chr21 | 43164008 | 43177805 | ||
a0001c0006 | 0/0 | 519 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | ATGGA others(514): Show |
chr21 | 43164008 | 43177805 | ||
a0001c0007 | 0/0 | 519 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | ATGGA others(514): Show |
chr21 | 43164008 | 43177805 | ||
a0001c0008 | 0/0 | 519 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | ATGGA others(514): Show |
chr21 | 43164008 | 43177805 | ||
a0002c0003 | 0/0 | 520 | 2 | 0 | 1 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | ATGGA others(515): Show |
chr21 | 43164008 | 43177805 | ||
a0002c0004 | 0/0 | 520 | 2 | 1 | 1 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | ATGGA others(515): Show |
chr21 | 43164008 | 43177805 | ||
a0003c0005 | 0/0 | 542 | 1 | 0 | 0 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | ATGGA others(537): Show |
chr21 | 43164008 | 43177805 | ||
a0004c0009 | 0/0 | 519 | 1 | 0 | 0 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | ATGGA others(514): Show |
chr21 | 43164008 | 43177805 | ||
a0005c0010 | 0/0 | 558 | 1 | 0 | 0 | 0 | 0 | 1 | CRYAA_chr21_43164008_43177805 | CRYAA | ATGGA others(553): Show |
chr21 | 43164008 | 43177805 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1139 | 10 | 1 | 2 | 2 | 1 | 4 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1134): Show |
chr21 | 43164008 | 43177805 |
a0001c0001t0002 | 0/0 | 1139 | 4 | 0 | 0 | 1 | 0 | 3 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1134): Show |
chr21 | 43164008 | 43177805 |
a0001c0001t0005 | 0/0 | 1139 | 1 | 0 | 1 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1134): Show |
chr21 | 43164008 | 43177805 |
a0001c0001t0006 | 0/0 | 1120 | 1 | 0 | 0 | 0 | 1 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1115): Show |
chr21 | 43164008 | 43177805 |
a0001c0002t0001 | 0/0 | 1139 | 11 | 4 | 1 | 2 | 4 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1134): Show |
chr21 | 43164008 | 43177805 |
a0001c0002t0002 | 0/0 | 1139 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1134): Show |
chr21 | 43164008 | 43177805 |
a0001c0002t0003 | 0/0 | 1138 | 2 | 2 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1133): Show |
chr21 | 43164008 | 43177805 |
a0001c0006t0001 | 0/0 | 1139 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1134): Show |
chr21 | 43164008 | 43177805 |
a0001c0007t0004 | 0/0 | 1139 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1134): Show |
chr21 | 43164008 | 43177805 |
a0001c0008t0004 | 0/0 | 1139 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1134): Show |
chr21 | 43164008 | 43177805 |
a0002c0003t0001 | 0/0 | 1140 | 2 | 0 | 1 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1135): Show |
chr21 | 43164008 | 43177805 |
a0002c0004t0001 | 0/0 | 1140 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1135): Show |
chr21 | 43164008 | 43177805 |
a0002c0004t0007 | 0/0 | 1140 | 1 | 0 | 1 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1135): Show |
chr21 | 43164008 | 43177805 |
a0003c0005t0001 | 0/0 | 1162 | 1 | 0 | 0 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1157): Show |
chr21 | 43164008 | 43177805 |
a0004c0009t0001 | 0/0 | 1139 | 1 | 0 | 0 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1134): Show |
chr21 | 43164008 | 43177805 |
a0005c0010t0002 | 0/0 | 1178 | 1 | 0 | 0 | 0 | 0 | 1 | CRYAA_chr21_43164008_43177805 | CRYAA | AGGGA others(1173): Show |
chr21 | 43164008 | 43177805 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 6 | 0 | 1 | 0 | 1 | 4 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0001t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0001t0002g0002 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0001t0002g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0001t0005g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0001t0006g0003 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0001g0006 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0003g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0002t0003g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0006t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0007t0004g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0001c0008t0004g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0002c0003t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0002c0003t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0002c0004t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0002c0004t0007g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0003c0005t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0004c0009t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
a0005c0010t0002g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0002 | t0001 | g0026 | EUR | GBR | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG00099 | hp2 | a0001 | c0001 | t0006 | g0003 | EUR | GBR | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG00280 | hp1 | a0001 | c0002 | t0001 | g0015 | EUR | FIN | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG00280 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | FIN | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | CHS | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG00609 | hp2 | a0003 | c0005 | t0001 | g0003 | EAS | CHS | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG00621 | hp1 | a0001 | c0002 | t0001 | g0013 | EAS | CHS | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG00621 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | CHS | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG00673 | hp1 | a0004 | c0009 | t0001 | g0004 | EAS | CHS | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG00673 | hp2 | a0002 | c0003 | t0001 | g0005 | EAS | CHS | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG00741 | hp1 | a0002 | c0004 | t0007 | g0014 | AMR | PUR | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG00741 | hp2 | a0001 | c0002 | t0001 | g0006 | AMR | PUR | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG01978 | hp2 | a0002 | c0003 | t0001 | g0001 | AMR | PEL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG02273 | hp1 | a0001 | c0001 | t0005 | g0001 | AMR | PEL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | PEL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG02809 | hp1 | a0001 | c0006 | t0001 | g0008 | AFR | GWD | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG02809 | hp2 | a0001 | c0002 | t0001 | g0023 | AFR | GWD | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03017 | hp1 | a0001 | c0001 | t0002 | g0009 | SAS | PJL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03017 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03098 | hp1 | a0001 | c0002 | t0001 | g0028 | AFR | MSL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03098 | hp2 | a0001 | c0007 | t0004 | g0020 | AFR | MSL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03139 | hp1 | a0001 | c0002 | t0003 | g0004 | AFR | ESN | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03139 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03225 | hp1 | a0001 | c0002 | t0001 | g0007 | AFR | MSL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03225 | hp2 | a0001 | c0002 | t0002 | g0011 | AFR | MSL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03492 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03492 | hp2 | a0001 | c0001 | t0002 | g0017 | SAS | PJL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03579 | hp1 | a0001 | c0008 | t0004 | g0012 | AFR | MSL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03579 | hp2 | a0002 | c0004 | t0001 | g0016 | AFR | MSL | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG04115 | hp1 | a0005 | c0010 | t0002 | g0022 | SAS | STU | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
HG04115 | hp2 | a0001 | c0001 | t0002 | g0002 | SAS | STU | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
NA18983 | hp1 | a0001 | c0002 | t0001 | g0006 | EAS | JPT | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
NA18983 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
NA19240 | hp1 | a0001 | c0002 | t0003 | g0025 | AFR | YRI | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
NA19240 | hp2 | a0001 | c0002 | t0001 | g0027 | AFR | YRI | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
NA20752 | hp1 | a0001 | c0002 | t0001 | g0021 | EUR | TSI | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
NA20752 | hp2 | a0001 | c0002 | t0001 | g0024 | EUR | TSI | CRYAA_chr21_43164008_43177805 | CRYAA | chr21 | 43164008 | 43177805 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:43172111 | A | AC | 1 | a0002 | 4 | HG00673.hp2 HG00741.hp1 HG01978.hp2 others(1): Show |
frameshift_variant | HIGH | c.355dupC | p.Arg119fs | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 448/1139 | 356/522 | 119/173 | INFO_REALIGN_3_PRIME | chr21 | 43172111 | ||
chr21:43172123 | C | CCAACGTG others(16): Show |
1 | a0003 | 1 | HG00609.hp2 | frameshift_variant | HIGH | c.367_389dupAACGTGGA others(15): Show |
p.Cys131fs | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 482/1139 | 390/522 | 130/173 | INFO_REALIGN_3_PRIME | chr21 | 43172123 | ||
chr21:43172219 | A | ACGCCGAG others(32): Show |
1 | a0005 | 1 | HG04115.hp1 | conservative_inframe_insertion | MODERATE | c.463_501dupGCCGAGCG others(31): Show |
p.Ala155_Pro167dup | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 594/1139 | 502/522 | 168/173 | INFO_REALIGN_3_PRIME | chr21 | 43172219 | ||
chr21:43172240 | T | G | 1 | a0004 | 1 | HG00673.hp1 | missense_variant | MODERATE | c.482T>G | p.Val161Gly | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 574/1139 | 482/522 | 161/173 | chr21 | 43172240 |
view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:43169105 | C | T | 6 | a0001c0002 a0001c0007 a0001c0008 others(3): Show |
20 | HG00099.hp1 HG00280.hp1 HG00621.hp1 others(17): Show |
synonymous_variant | LOW | c.6C>T | p.Asp2Asp | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 1/3 | 98/1139 | 6/522 | 2/173 | chr21 | 43169105 | |||
chr21:43170573 | G | A | 2 | a0001c0007 a0001c0008 |
2 | HG03098.hp2 HG03579.hp1 |
synonymous_variant | LOW | c.246G>A | p.Pro82Pro | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/3 | 338/1139 | 246/522 | 82/173 | chr21 | 43170573 | |||
chr21:43172082 | C | T | 1 | a0001c0008 | 1 | HG03579.hp1 | synonymous_variant | LOW | c.324C>T | p.Gly108Gly | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 416/1139 | 324/522 | 108/173 | chr21 | 43172082 | |||
chr21:43172202 | T | A | 1 | a0001c0006 | 1 | HG02809.hp1 | synonymous_variant | LOW | c.444T>A | p.Thr148Thr | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 536/1139 | 444/522 | 148/173 | chr21 | 43172202 |
view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:43172373 | T | G | 3 | a0001c0001t0002 a0001c0002t0002 a0005c0010t0002 |
6 | HG03017.hp1 HG03225.hp2 HG03492.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*93T>G | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 93 | chr21 | 43172373 | ||||||
chr21:43172379 | C | A | 1 | a0001c0001t0005 | 1 | HG02273.hp1 | 3_prime_UTR_variant | MODIFIER | c.*99C>A | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 99 | chr21 | 43172379 | ||||||
chr21:43172427 | AGCTTAGG others(12): Show |
A | 1 | a0001c0001t0006 | 1 | HG00099.hp2 | 3_prime_UTR_variant | MODIFIER | c.*148_*166delGCTTAG others(13): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 148 | chr21 | 43172427 | ||||||
chr21:43172573 | CG | C | 1 | a0001c0002t0003 | 2 | HG03139.hp1 NA19240.hp1 |
3_prime_UTR_variant | MODIFIER | c.*295delG | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 295 | INFO_REALIGN_3_PRIME | chr21 | 43172573 | |||||
chr21:43172765 | G | A | 1 | a0002c0004t0007 | 1 | HG00741.hp1 | 3_prime_UTR_variant | MODIFIER | c.*485G>A | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 485 | chr21 | 43172765 | ||||||
chr21:43172787 | C | G | 5 | a0001c0001t0002 a0001c0002t0002 a0001c0007t0004 others(2): Show |
8 | HG03017.hp1 HG03098.hp2 HG03225.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*507C>G | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 507 | chr21 | 43172787 |
view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:43169321 | C | T | 2 | a0001c0002t0001g0027 a0001c0002t0001g0028 |
2 | HG03098.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.189+33C>T | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 1/2 | chr21 | 43169321 | |||||||
chr21:43169359 | G | C | 1 | a0001c0002t0001g0007 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.189+71G>C | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 1/2 | chr21 | 43169359 | |||||||
chr21:43169459 | C | T | 3 | a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0003g0025 |
3 | HG00099.hp1 NA19240.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.189+171C>T | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 1/2 | chr21 | 43169459 | |||||||
chr21:43169810 | G | GC | 12 | a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0019 others(9): Show |
13 | HG00099.hp1 HG00609.hp1 HG00621.hp2 others(10): Show |
intron_variant | MODIFIER | c.189+533dupC | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | 43169810 | ||||||
chr21:43169949 | C | T | 19 | a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0013 others(16): Show |
20 | HG00099.hp1 HG00280.hp1 HG00621.hp1 others(17): Show |
intron_variant | MODIFIER | c.190-568C>T | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 1/2 | chr21 | 43169949 | |||||||
chr21:43170180 | G | GACCCCTC others(49): Show |
1 | a0001c0002t0001g0023 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.190-333_190-278dup others(56): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | 43170180 | ||||||
chr21:43170256 | C | T | 1 | a0002c0004t0001g0016 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.190-261C>T | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 1/2 | chr21 | 43170256 | |||||||
chr21:43170811 | G | A | 15 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0002g0002 others(12): Show |
17 | HG00621.hp2 HG00673.hp1 HG00741.hp2 others(14): Show |
intron_variant | MODIFIER | c.312+172G>A | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | chr21 | 43170811 | |||||||
chr21:43171012 | G | A | 7 | a0001c0001t0001g0018 a0001c0001t0002g0002 a0001c0001t0002g0009 others(4): Show |
8 | HG02809.hp1 HG03017.hp1 HG03139.hp2 others(5): Show |
intron_variant | MODIFIER | c.312+373G>A | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | chr21 | 43171012 | |||||||
chr21:43171018 | A | ATCTTCAC others(81): Show |
1 | a0001c0001t0001g0010 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.312+380_312+467dup others(88): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | 43171018 | ||||||
chr21:43171127 | C | A | 1 | a0005c0010t0002g0022 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.312+488C>A | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | chr21 | 43171127 | |||||||
chr21:43171171 | T | C | 1 | a0002c0004t0001g0016 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.312+532T>C | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | chr21 | 43171171 | |||||||
chr21:43171200 | A | AC | 2 | a0001c0002t0001g0027 a0001c0007t0004g0020 |
2 | HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+563dupC | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | 43171200 | ||||||
chr21:43171210 | T | TG | 11 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0006g0003 others(8): Show |
12 | HG00099.hp2 HG00280.hp1 HG00609.hp2 others(9): Show |
intron_variant | MODIFIER | c.312+573dupG | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | 43171210 | ||||||
chr21:43171242 | TGCCCCGC others(28): Show |
T | 1 | a0005c0010t0002g0022 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.312+604_312+638del others(35): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | chr21 | 43171242 | |||||||
chr21:43171335 | GC | G | 2 | a0001c0002t0001g0027 a0001c0002t0002g0011 |
2 | HG03225.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+698delC | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | 43171335 | ||||||
chr21:43171378 | C | T | 2 | a0001c0002t0001g0028 a0002c0004t0007g0014 |
2 | HG00741.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.313-693C>T | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | chr21 | 43171378 | |||||||
chr21:43171507 | T | C | 6 | a0001c0001t0001g0018 a0001c0001t0002g0002 a0001c0001t0002g0009 others(3): Show |
7 | HG03017.hp1 HG03139.hp2 HG03225.hp2 others(4): Show |
intron_variant | MODIFIER | c.313-564T>C | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | chr21 | 43171507 | |||||||
chr21:43171786 | G | T | 2 | a0001c0002t0001g0027 a0001c0002t0001g0028 |
2 | HG03098.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.313-285G>T | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | chr21 | 43171786 | |||||||
chr21:43171788 | G | C | 1 | a0001c0006t0001g0008 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.313-283G>C | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | chr21 | 43171788 | |||||||
chr21:43172030 | G | A | 2 | a0001c0002t0003g0025 a0002c0004t0001g0016 |
2 | HG03579.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.313-41G>A | CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 2/2 | chr21 | 43172030 |