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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   CRYAA_chr21_43164008_43177805  CRYAA_chr21_43164008_43177805 (clean+top1000)

Multiple Alignments (by translate haplotype frequency)Multiple Alignments (by aa haplotype frequency) Multiple Alignments (by translate haplotype similarity)Multiple Alignments (by aa haplotype similarity)

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
a0000 0/0 0 4 1 2 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001 0/0 173 33 11 4 5 6 7 2 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0002 0/0 173 1 0 0 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0003 0/0 186 1 0 0 0 0 1 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0004 0/0 146 1 0 0 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 522 16 1 3 3 2 7 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
c0002 0/0 522 14 7 1 2 4 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
c0003 0/0 523 2 0 1 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
c0004 0/0 523 2 1 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
c0005 0/0 545 1 0 0 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
c0006 0/0 522 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
c0007 0/0 522 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
c0008 0/0 522 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
c0009 0/0 522 1 0 0 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
c0010 0/0 561 1 0 0 0 0 1 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 618 27 7 4 7 5 4 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
t0002 0/0 618 6 1 0 1 0 4 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
t0003 0/0 617 2 2 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
t0004 0/0 618 2 2 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
t0005 0/0 618 1 0 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
t0006 0/0 599 1 0 0 0 1 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
t0007 0/0 618 1 0 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 8 0 3 0 1 4 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0002 0/0 2 0 0 1 0 1 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0003 0/0 2 0 0 1 1 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0004 0/0 2 1 0 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0005 0/0 2 0 0 2 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0006 0/0 2 0 1 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0007 0/0 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0008 0/0 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0009 0/0 1 0 0 0 0 1 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0010 0/0 1 0 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0011 0/0 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0012 0/0 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0013 0/0 1 0 0 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0014 0/0 1 0 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0015 0/0 1 0 0 0 1 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0016 0/0 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0017 0/0 1 0 0 0 0 1 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0018 0/0 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0019 0/0 1 0 0 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0020 0/0 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0021 0/0 1 0 0 0 1 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0022 0/0 1 0 0 0 0 1 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0023 0/0 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0024 0/0 1 0 0 0 1 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0025 0/0 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0026 0/0 1 0 0 0 1 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0027 0/0 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
g0028 0/0 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0000c0003 0/0 523 2 0 1 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0000c0004 0/0 523 2 1 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0001 0/0 522 16 1 3 3 2 7 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0002 0/0 522 14 7 1 2 4 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0006 0/0 522 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0007 0/0 522 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0008 0/0 522 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0002c0009 0/0 522 1 0 0 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0003c0010 0/0 561 1 0 0 0 0 1 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0004c0005 0/0 545 1 0 0 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0000c0003t0001 0/0 1140 2 0 1 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0000c0004t0001 0/0 1140 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0000c0004t0007 0/0 1140 1 0 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0001t0001 0/0 1139 10 1 2 2 1 4 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0001t0002 0/0 1139 4 0 0 1 0 3 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0001t0005 0/0 1139 1 0 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0001t0006 0/0 1120 1 0 0 0 1 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0002t0001 0/0 1139 11 4 1 2 4 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0002t0002 0/0 1139 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0002t0003 0/0 1138 2 2 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0006t0001 0/0 1139 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0007t0004 0/0 1139 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0001c0008t0004 0/0 1139 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0002c0009t0001 0/0 1139 1 0 0 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0003c0010t0002 0/0 1178 1 0 0 0 0 1 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805
a0004c0005t0001 0/0 1162 1 0 0 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA copy fasta chr21 43164008 43177805

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0000c0003t0001g0001 0/0 1 0 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
a0000c0003t0001g0005 0/0 1 0 0 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
a0000c0004t0001g0016 0/0 1 1 0 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
a0000c0004t0007g0014 0/0 1 0 1 0 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
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
a0002c0009t0001g0004 0/0 1 0 0 1 0 0 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
a0003c0010t0002g0022 0/0 1 0 0 0 0 1 CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
a0004c0005t0001g0003 0/0 1 0 0 1 0 0 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 a0004 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 a0002 c0009 t0001 g0004 EAS CHS CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
HG00673 hp2 a0000 c0003 t0001 g0005 EAS CHS CRYAA_chr21_43164008_43177805 CRYAA chr21 43164008 43177805
HG00741 hp1 a0000 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 a0000 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 a0000 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 a0003 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

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
A
 AC
AC
 1 a0000
a0000
 4 HG00673.hp2
HG00741.hp1
HG01978.hp2
others(1): Show 
HG00673.hp2
HG00741.hp1
HG01978.hp2
HG03579.hp2
 frameshift_variant HIGH c.355dupC
c.355dupC
 p.Arg119fs
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
C
 CCAACGTG
others(16): Show 
CCAACGTGGACCAGTCGGCCCTCT
 1 a0004
a0004
 1 HG00609.hp2
HG00609.hp2
 frameshift_variant HIGH c.367_389dupAACGTGGA
others(15): Show 
c.367_389dupAACGTGGACCAGTCGGCCCTCTC
 p.Cys131fs
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
A
 ACGCCGAG
others(32): Show 
ACGCCGAGCGAGCCATCCCCGTGTCGCGGGAGGAGAAGCC
 1 a0003
a0003
 1 HG04115.hp1
HG04115.hp1
 conservative_inframe_insertion MODERATE c.463_501dupGCCGAGCG
others(31): Show 
c.463_501dupGCCGAGCGAGCCATCCCCGTGTCGCGGGAGGAGAAGCC
C
 p.Ala155_Pro167dup
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
T
 G
G
 1 a0002
a0002
 1 HG00673.hp1
HG00673.hp1
 missense_variant MODERATE c.482T>G
c.482T>G
 p.Val161Gly
p.Val161Gly
 CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 3/3 574/1139 482/522 161/173 chr21 43172240

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
C
 T
T
 6 a0000c0004
a0001c0002
a0001c0007
others(3): Show 
a0000c0004
a0001c0002
a0001c0007
a0001c0008
a0002c0009
a0003c0010
 20 HG00099.hp1
HG00280.hp1
HG00621.hp1
others(17): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG02809.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03579.hp1
HG03579.hp2
HG04115.hp1
NA18983.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
 synonymous_variant LOW c.6C>T
c.6C>T
 p.Asp2Asp
p.Asp2Asp
 CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 1/3 98/1139 6/522 2/173 chr21 43169105
chr21:43170573 G
G
 A
A
 2 a0001c0007
a0001c0008
a0001c0007
a0001c0008
 2 HG03098.hp2
HG03579.hp1
HG03098.hp2
HG03579.hp1
 synonymous_variant LOW c.246G>A
c.246G>A
 p.Pro82Pro
p.Pro82Pro
 CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/3 338/1139 246/522 82/173 chr21 43170573
chr21:43172082 C
C
 T
T
 1 a0001c0008
a0001c0008
 1 HG03579.hp1
HG03579.hp1
 synonymous_variant LOW c.324C>T
c.324C>T
 p.Gly108Gly
p.Gly108Gly
 CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 3/3 416/1139 324/522 108/173 chr21 43172082
chr21:43172202 T
T
 A
A
 1 a0001c0006
a0001c0006
 1 HG02809.hp1
HG02809.hp1
 synonymous_variant LOW c.444T>A
c.444T>A
 p.Thr148Thr
p.Thr148Thr
 CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 3/3 536/1139 444/522 148/173 chr21 43172202

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
T
 G
G
 3 a0001c0001t0002
a0001c0002t0002
a0003c0010t0002
a0001c0001t0002
a0001c0002t0002
a0003c0010t0002
 6 HG03017.hp1
HG03225.hp2
HG03492.hp2
others(3): Show 
HG03017.hp1
HG03225.hp2
HG03492.hp2
HG04115.hp1
HG04115.hp2
NA18983.hp2
 3_prime_UTR_variant MODIFIER c.*93T>G
c.*93T>G
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 3/3 93 chr21 43172373
chr21:43172379 C
C
 A
A
 1 a0001c0001t0005
a0001c0001t0005
 1 HG02273.hp1
HG02273.hp1
 3_prime_UTR_variant MODIFIER c.*99C>A
c.*99C>A
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 3/3 99 chr21 43172379
chr21:43172427 AGCTTAGG
others(12): Show 
AGCTTAGGGTCTCAGGGTGT
 A
A
 1 a0001c0001t0006
a0001c0001t0006
 1 HG00099.hp2
HG00099.hp2
 3_prime_UTR_variant MODIFIER c.*148_*166delGCTTAG
others(13): Show 
c.*148_*166delGCTTAGGGTCTCAGGGTGT
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 3/3 148 chr21 43172427
chr21:43172573 CG
CG
 C
C
 1 a0001c0002t0003
a0001c0002t0003
 2 HG03139.hp1
NA19240.hp1
HG03139.hp1
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*295delG
c.*295delG
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 3/3 295 INFO_REALIGN_3_PRIME chr21 43172573
chr21:43172765 G
G
 A
A
 1 a0000c0004t0007
a0000c0004t0007
 1 HG00741.hp1
HG00741.hp1
 3_prime_UTR_variant MODIFIER c.*485G>A
c.*485G>A
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 3/3 485 chr21 43172765
chr21:43172787 C
C
 G
G
 5 a0001c0001t0002
a0001c0002t0002
a0001c0007t0004
others(2): Show 
a0001c0001t0002
a0001c0002t0002
a0001c0007t0004
a0001c0008t0004
a0003c0010t0002
 8 HG03017.hp1
HG03098.hp2
HG03225.hp2
others(5): Show 
HG03017.hp1
HG03098.hp2
HG03225.hp2
HG03492.hp2
HG03579.hp1
HG04115.hp1
HG04115.hp2
NA18983.hp2
 3_prime_UTR_variant MODIFIER c.*507C>G
c.*507C>G
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 3/3 507 chr21 43172787

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
C
 T
T
 2 a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0027
a0001c0002t0001g0028
 2 HG03098.hp1
NA19240.hp2
HG03098.hp1
NA19240.hp2
 intron_variant MODIFIER c.189+33C>T
c.189+33C>T
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 1/2 chr21 43169321
chr21:43169359 G
G
 C
C
 1 a0001c0002t0001g0007
a0001c0002t0001g0007
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.189+71G>C
c.189+71G>C
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 1/2 chr21 43169359
chr21:43169459 C
C
 T
T
 3 a0001c0002t0001g0024
a0001c0002t0001g0026
a0001c0002t0003g0025
a0001c0002t0001g0024
a0001c0002t0001g0026
a0001c0002t0003g0025
 3 HG00099.hp1
NA19240.hp1
NA20752.hp2
HG00099.hp1
NA19240.hp1
NA20752.hp2
 intron_variant MODIFIER c.189+171C>T
c.189+171C>T
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 1/2 chr21 43169459
chr21:43169810 G
G
 GC
GC
 12 a0000c0003t0001g0005
a0001c0001t0001g0005
a0001c0001t0001g0018
others(9): Show 
a0000c0003t0001g0005
a0001c0001t0001g0005
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0002g0017
a0001c0002t0001g0006
a0001c0002t0001g0021
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0003g0025
a0001c0007t0004g0020
a0003c0010t0002g0022
 13 HG00099.hp1
HG00609.hp1
HG00621.hp2
others(10): Show 
HG00099.hp1
HG00609.hp1
HG00621.hp2
HG00673.hp2
HG00741.hp2
HG02809.hp2
HG03098.hp2
HG03139.hp2
HG03492.hp2
HG04115.hp1
NA18983.hp1
NA19240.hp1
NA20752.hp1
 intron_variant MODIFIER c.189+533dupC
c.189+533dupC
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 1/2 INFO_REALIGN_3_PRIME chr21 43169810
chr21:43169949 C
C
 T
T
 19 a0000c0004t0001g0016
a0000c0004t0007g0014
a0001c0002t0001g0006
others(16): Show 
a0000c0004t0001g0016
a0000c0004t0007g0014
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0013
a0001c0002t0001g0015
a0001c0002t0001g0021
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0002g0011
a0001c0002t0003g0004
a0001c0002t0003g0025
a0001c0007t0004g0020
a0001c0008t0004g0012
a0002c0009t0001g0004
a0003c0010t0002g0022
 20 HG00099.hp1
HG00280.hp1
HG00621.hp1
others(17): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG02809.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03579.hp1
HG03579.hp2
HG04115.hp1
NA18983.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.190-568C>T
c.190-568C>T
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 1/2 chr21 43169949
chr21:43170180 G
G
 GACCCCTC
others(49): Show 
GACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTT
ATCTATA
 1 a0001c0002t0001g0023
a0001c0002t0001g0023
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.190-333_190-278dup
others(56): Show 
c.190-333_190-278dupCCTCCTACCATAACCAGTAGCCAGCCAGCC
CATAACCAGCCAACTTATCTATAACC
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 1/2 INFO_REALIGN_3_PRIME chr21 43170180
chr21:43170256 C
C
 T
T
 1 a0000c0004t0001g0016
a0000c0004t0001g0016
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.190-261C>T
c.190-261C>T
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 1/2 chr21 43170256
chr21:43170811 G
G
 A
A
 15 a0000c0004t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
others(12): Show 
a0000c0004t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0002g0002
a0001c0001t0002g0017
a0001c0002t0001g0006
a0001c0002t0001g0021
a0001c0002t0001g0023
a0001c0002t0002g0011
a0001c0002t0003g0004
a0001c0002t0003g0025
a0001c0006t0001g0008
a0001c0007t0004g0020
a0001c0008t0004g0012
a0002c0009t0001g0004
 17 HG00621.hp2
HG00673.hp1
HG00741.hp2
others(14): Show 
HG00621.hp2
HG00673.hp1
HG00741.hp2
HG02809.hp1
HG02809.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03492.hp2
HG03579.hp1
HG03579.hp2
HG04115.hp2
NA18983.hp1
NA18983.hp2
NA19240.hp1
NA20752.hp1
 intron_variant MODIFIER c.312+172G>A
c.312+172G>A
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 chr21 43170811
chr21:43171012 G
G
 A
A
 7 a0001c0001t0001g0018
a0001c0001t0002g0002
a0001c0001t0002g0009
others(4): Show 
a0001c0001t0001g0018
a0001c0001t0002g0002
a0001c0001t0002g0009
a0001c0001t0002g0017
a0001c0002t0002g0011
a0001c0002t0003g0025
a0001c0006t0001g0008
 8 HG02809.hp1
HG03017.hp1
HG03139.hp2
others(5): Show 
HG02809.hp1
HG03017.hp1
HG03139.hp2
HG03225.hp2
HG03492.hp2
HG04115.hp2
NA18983.hp2
NA19240.hp1
 intron_variant MODIFIER c.312+373G>A
c.312+373G>A
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 chr21 43171012
chr21:43171018 A
A
 ATCTTCAC
others(81): Show 
ATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTG
CATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGC
 1 a0001c0001t0001g0010
a0001c0001t0001g0010
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.312+380_312+467dup
others(88): Show 
c.312+380_312+467dupTCTTCACATGAACCCTACCTGAGGAAGCCA
GTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGAC
ACCTTCGC
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 INFO_REALIGN_3_PRIME chr21 43171018
chr21:43171127 C
C
 A
A
 1 a0003c0010t0002g0022
a0003c0010t0002g0022
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.312+488C>A
c.312+488C>A
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 chr21 43171127
chr21:43171171 T
T
 C
C
 1 a0000c0004t0001g0016
a0000c0004t0001g0016
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.312+532T>C
c.312+532T>C
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 chr21 43171171
chr21:43171200 A
A
 AC
AC
 2 a0001c0002t0001g0027
a0001c0007t0004g0020
a0001c0002t0001g0027
a0001c0007t0004g0020
 2 HG03098.hp2
NA19240.hp2
HG03098.hp2
NA19240.hp2
 intron_variant MODIFIER c.312+563dupC
c.312+563dupC
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 INFO_REALIGN_3_PRIME chr21 43171200
chr21:43171210 T
T
 TG
TG
 11 a0000c0004t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
others(8): Show 
a0000c0004t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0006g0003
a0001c0002t0001g0006
a0001c0002t0001g0015
a0001c0002t0001g0023
a0001c0002t0003g0004
a0001c0002t0003g0025
a0002c0009t0001g0004
a0004c0005t0001g0003
 12 HG00099.hp2
HG00280.hp1
HG00609.hp2
others(9): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp2
HG02809.hp2
HG03139.hp1
HG03139.hp2
HG03579.hp2
NA18983.hp1
NA19240.hp1
 intron_variant MODIFIER c.312+573dupG
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 
TGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTC
 T
T
 1 a0003c0010t0002g0022
a0003c0010t0002g0022
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.312+604_312+638del
others(35): Show 
c.312+604_312+638delGCCCCGCTCTTGCTCGGCTGGAGGCCTCGG
ATCTC
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 chr21 43171242
chr21:43171335 GC
GC
 G
G
 2 a0001c0002t0001g0027
a0001c0002t0002g0011
a0001c0002t0001g0027
a0001c0002t0002g0011
 2 HG03225.hp2
NA19240.hp2
HG03225.hp2
NA19240.hp2
 intron_variant MODIFIER c.312+698delC
c.312+698delC
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 INFO_REALIGN_3_PRIME chr21 43171335
chr21:43171378 C
C
 T
T
 2 a0000c0004t0007g0014
a0001c0002t0001g0028
a0000c0004t0007g0014
a0001c0002t0001g0028
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.313-693C>T
c.313-693C>T
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 chr21 43171378
chr21:43171507 T
T
 C
C
 6 a0001c0001t0001g0018
a0001c0001t0002g0002
a0001c0001t0002g0009
others(3): Show 
a0001c0001t0001g0018
a0001c0001t0002g0002
a0001c0001t0002g0009
a0001c0001t0002g0017
a0001c0002t0002g0011
a0003c0010t0002g0022
 7 HG03017.hp1
HG03139.hp2
HG03225.hp2
others(4): Show 
HG03017.hp1
HG03139.hp2
HG03225.hp2
HG03492.hp2
HG04115.hp1
HG04115.hp2
NA18983.hp2
 intron_variant MODIFIER c.313-564T>C
c.313-564T>C
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 chr21 43171507
chr21:43171786 G
G
 T
T
 2 a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0027
a0001c0002t0001g0028
 2 HG03098.hp1
NA19240.hp2
HG03098.hp1
NA19240.hp2
 intron_variant MODIFIER c.313-285G>T
c.313-285G>T
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 chr21 43171786
chr21:43171788 G
G
 C
C
 1 a0001c0006t0001g0008
a0001c0006t0001g0008
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.313-283G>C
c.313-283G>C
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 chr21 43171788
chr21:43172030 G
G
 A
A
 2 a0000c0004t0001g0016
a0001c0002t0003g0025
a0000c0004t0001g0016
a0001c0002t0003g0025
 2 HG03579.hp2
NA19240.hp1
HG03579.hp2
NA19240.hp1
 intron_variant MODIFIER c.313-41G>A
c.313-41G>A
CRYAA ENSG00000160202.7 transcript ENST00000291554.6 protein_coding 2/2 chr21 43172030

  • GeneCards
  • OpenTarget
  • The Human Protein Atlas
  • Gnomad v4.1.0
  • PhewebJP (Japan)
  • UKB-TOPMed (UMich) (UK and US)
  • FinnGen r11 (Finland)
  • KoGES (Korean)
  • Mouse Phenotype
  • Zebra Phenotype
  • TogoVar

  • DNA
  • Satellite
  • All Snps 1.4.2
  • RC
  • snRNA
  • SINE
  • GC %
  • Simple_repeat
  • RNA
  • Retroposon
  • Unknown
  • Low_complexity
  • LINE
  • scRNA
  • CpG Islands
  • Phastcons (20 way)
  • srpRNA
  • Common Snps 1.4.2
  • rRNA
  • LTR
  • tRNA

  • Axiom Genome-Wide Array (Japonica Array V1)
  • Axiom Genome-Wide Array (Japonica Array V2)
  • Axiom Genome-Wide ASI Array V1 (ASI V1)
​

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