geneid | 101060233 |
---|---|
ensemblid | ENSG00000269433.4 |
hgncid | 51831 |
symbol | OPN1MW3 |
name | opsin 1, medium wave sensitive 3 |
refseq_nuc | NM_001330067.2 |
refseq_prot | NP_001316996.1 |
ensembl_nuc | ENST00000599405.4 |
ensembl_prot | ENSP00000469970.1 |
mane_status | MANE Select |
chr | chrX |
start | 154257582 |
end | 154271090 |
strand | + |
ver | v1.2 |
region | chrX:154257582-154271090 |
region5000 | chrX:154252582-154276090 |
regionname0 | OPN1MW3_chrX_154257582_154271090 |
regionname5000 | OPN1MW3_chrX_154252582_154276090 |
ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 364 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0002 | 0/0 | 19 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0003 | 0/0 | 161 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0004 | 0/0 | 364 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0005 | 0/0 | 364 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0006 | 0/0 | 257 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/0 | 1095 | 2 | 2 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
c0002 | 0/0 | 1095 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
c0003 | 0/0 | 1101 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
c0004 | 0/0 | 1095 | 1 | 0 | 1 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
c0005 | 0/0 | 1094 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
c0006 | 0/0 | 1096 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 0/0 | 145 | 5 | 2 | 1 | 2 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
t0002 | 0/0 | 146 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
t0003 | 0/0 | 144 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 1095 | 2 | 2 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0002c0006 | 0/0 | 1096 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0003c0005 | 0/0 | 1094 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0004c0002 | 0/0 | 1095 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0005c0004 | 0/0 | 1095 | 1 | 0 | 1 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0006c0003 | 0/0 | 1101 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1239 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0001c0001t0003 | 0/0 | 1238 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0002c0006t0001 | 0/0 | 1240 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0003c0005t0001 | 0/0 | 1238 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0004c0002t0001 | 0/0 | 1239 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0005c0004t0001 | 0/0 | 1239 | 1 | 0 | 1 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
a0006c0003t0002 | 0/0 | 1246 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | copy fasta | chrX | 154252582 | 154276090 |
actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
a0001c0001t0003g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
a0002c0006t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
a0003c0005t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
a0004c0002t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
a0005c0004t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
a0006c0003t0002g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00621 | hp1 | a0002 | c0006 | t0001 | g0001 | EAS | CHS | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
HG00642 | hp1 | a0005 | c0004 | t0001 | g0006 | AMR | PUR | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
HG02145 | hp1 | a0006 | c0003 | t0002 | g0005 | AFR | ACB | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
HG02572 | hp1 | a0001 | c0001 | t0003 | g0003 | AFR | GWD | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
HG02717 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
NA18970 | hp1 | a0004 | c0002 | t0001 | g0007 | EAS | JPT | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
HG02486 | hp1 | a0003 | c0005 | t0001 | g0004 | AFR | ACB | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:154257623
|
G | GC | 1 | a0002 | 1 | HG00621.hp1 | frameshift_variant | HIGH | c.7dupC | p.Gln3fs | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/6 | 46/1239 | 8/1095 | 3/364 | INFO_REALIGN_3_PRIME | chrX | 154257623 | |
chrX:154265066
|
CA | C | 1 | a0003 | 1 | HG02486.hp1 | frameshift_variant | HIGH | c.482delA | p.Asn161fs | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/6 | 520/1239 | 482/1095 | 161/364 | INFO_REALIGN_3_PRIME | chrX | 154265066 | |
chrX:154265107
|
C | T | 4 | a0001a0003a0005others(1): Show | 5 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(2): Show |
missense_variant | MODERATE | c.521C>T | p.Ala174Val | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/6 | 559/1239 | 521/1095 | 174/364 | chrX | 154265107 | ||
chrX:154265118
|
A | G | 3 | a0003a0005a0006 | 3 | HG00642.hp1 HG02145.hp1 HG02486.hp1 |
missense_variant | MODERATE | c.532A>G | p.Ile178Val | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/6 | 570/1239 | 532/1095 | 178/364 | chrX | 154265118 | ||
chrX:154266646
|
G | GC | 1 | a0006 | 1 | HG02145.hp1 | frameshift_variant | HIGH | c.595dupC | p.Leu199fs | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/6 | 634/1239 | 596/1095 | 199/364 | INFO_REALIGN_3_PRIME | chrX | 154266646 | |
chrX:154266664
|
G | GC | 1 | a0006 | 1 | HG02145.hp1 | frameshift_variant | HIGH | c.614dupC | p.Asp206fs | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/6 | 653/1239 | 615/1095 | 205/364 | INFO_REALIGN_3_PRIME | chrX | 154266664 | |
chrX:154266671
|
C | CG | 1 | a0003 | 1 | HG02486.hp1 | frameshift_variant | HIGH | c.619dupG | p.Val207fs | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/6 | 658/1239 | 620/1095 | 207/364 | INFO_REALIGN_3_PRIME | chrX | 154266671 | |
chrX:154266678
|
A | AGT | 1 | a0006 | 1 | HG02145.hp1 | frameshift_variant | HIGH | c.626_627insTG | p.Gly210fs | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/6 | 665/1239 | 627/1095 | 209/364 | INFO_REALIGN_3_PRIME | chrX | 154266678 | |
chrX:154268584
|
AC | A | 1 | a0003 | 1 | HG02486.hp1 | frameshift_variant | HIGH | c.979delC | p.Arg327fs | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/6 | 1017/1239 | 979/1095 | 327/364 | INFO_REALIGN_3_PRIME | chrX | 154268584 | |
chrX:154270917
|
A | AT | 1 | a0006 | 1 | HG02145.hp1 | frameshift_variant | HIGH | c.1029dupT | p.Gly344fs | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 6/6 | 1068/1239 | 1030/1095 | 344/364 | INFO_REALIGN_3_PRIME | chrX | 154270917 | |
chrX:154270923
|
C | T | 1 | a0006 | 1 | HG02145.hp1 | missense_variant | MODERATE | c.1034C>T | p.Ser345Phe | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 6/6 | 1072/1239 | 1034/1095 | 345/364 | chrX | 154270923 | ||
chrX:154270949
|
G | GA | 1 | a0006 | 1 | HG02145.hp1 | frameshift_variant | HIGH | c.1061dupA | p.Val355fs | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 6/6 | 1100/1239 | 1062/1095 | 354/364 | INFO_REALIGN_3_PRIME | chrX | 154270949 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:154265051
|
C | G | 1 | a0002c0006 | 1 | HG00621.hp1 | synonymous_variant | LOW | c.465C>G | p.Val155Val | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/6 | 503/1239 | 465/1095 | 155/364 | chrX | 154265051 | ||
chrX:154268456
|
C | A | 2 | a0003c0005a0004c0002 | 2 | HG02486.hp1 NA18970.hp1 |
synonymous_variant | LOW | c.849C>A | p.Pro283Pro | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/6 | 887/1239 | 849/1095 | 283/364 | chrX | 154268456 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:154271002
|
TC | T | 1 | a0001c0001t0003 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*21delC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 6/6 | 21 | INFO_REALIGN_3_PRIME | chrX | 154271002 | ||||
chrX:154271026
|
C | CT | 1 | a0006c0003t0002 | 1 | HG02145.hp1 | 3_prime_UTR_variant | MODIFIER | c.*42_*43insT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 6/6 | 43 | chrX | 154271026 | |||||
chrX:154271051
|
T | G | 1 | a0006c0003t0002 | 1 | HG02145.hp1 | 3_prime_UTR_variant | MODIFIER | c.*67T>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 6/6 | 67 | chrX | 154271051 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:154258036
|
T | TC | 1 | a0002c0006t0001g0001 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.112+306dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154258036 | |||||
chrX:154258123
|
A | AC | 1 | a0002c0006t0001g0001 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.112+395dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154258123 | |||||
chrX:154258207
|
G | A | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.112+476G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154258207 | ||||||
chrX:154258314
|
T | TG | 1 | a0002c0006t0001g0001 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.112+586dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154258314 | |||||
chrX:154258432
|
G | A | 4 | a0001c0001t0001g0002a0001c0001t0003g0003a0003c0005t0001g0004others(1): Show | 4 | HG02145.hp1 HG02486.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.112+701G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154258432 | ||||||
chrX:154258481
|
C | CA | 1 | a0002c0006t0001g0001 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.112+753dupA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154258481 | |||||
chrX:154258493
|
C | CT | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.112+765dupT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154258493 | |||||
chrX:154258532
|
TG | T | 1 | a0002c0006t0001g0001 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.112+803delG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154258532 | |||||
chrX:154258624
|
A | C | 1 | a0002c0006t0001g0001 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.112+893A>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154258624 | ||||||
chrX:154258673
|
G | GC | 1 | a0002c0006t0001g0001 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.112+944dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154258673 | |||||
chrX:154258927
|
A | AG | 1 | a0002c0006t0001g0001 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.112+1197dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154258927 | |||||
chrX:154259076
|
C | CG | 1 | a0002c0006t0001g0001 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.112+1349dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154259076 | |||||
chrX:154259084
|
G | GTT | 2 | a0002c0006t0001g0001a0003c0005t0001g0004 | 2 | HG00621.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.112+1365_112+1366d others(4): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154259084 | |||||
chrX:154259153
|
A | AC | 1 | a0002c0006t0001g0001 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.112+1425dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154259153 | |||||
chrX:154259610
|
A | AT | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.112+1880dupT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154259610 | |||||
chrX:154260114
|
GC | G | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.112+2386delC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154260114 | |||||
chrX:154260126
|
GC | G | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.112+2398delC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154260126 | |||||
chrX:154260210
|
TC | T | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.112+2481delC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154260210 | |||||
chrX:154260260
|
G | GC | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.113-2447dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154260260 | |||||
chrX:154260381
|
G | GC | 1 | a0005c0004t0001g0006 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.113-2327dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154260381 | |||||
chrX:154260429
|
C | T | 5 | a0001c0001t0001g0002a0001c0001t0003g0003a0003c0005t0001g0004others(2): Show | 5 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.113-2283C>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154260429 | ||||||
chrX:154260546
|
CCACT | C | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-2165_113-2162d others(6): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154260546 | ||||||
chrX:154260551
|
G | A | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-2161G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154260551 | ||||||
chrX:154260576
|
GC | G | 2 | a0001c0001t0001g0002a0001c0001t0003g0003 | 2 | HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.113-2131delC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154260576 | |||||
chrX:154260595
|
G | GC | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-2114dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154260595 | |||||
chrX:154260986
|
T | C | 2 | a0001c0001t0001g0002a0001c0001t0003g0003 | 2 | HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.113-1726T>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154260986 | ||||||
chrX:154261141
|
T | C | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-1571T>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261141 | ||||||
chrX:154261388
|
C | T | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-1324C>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261388 | ||||||
chrX:154261532
|
G | C | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-1180G>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261532 | ||||||
chrX:154261533
|
C | G | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-1179C>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261533 | ||||||
chrX:154261549
|
A | G | 7 | a0001c0001t0001g0002a0001c0001t0003g0003a0002c0006t0001g0001others(4): Show | 7 | HG00621.hp1 HG00642.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.113-1163A>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261549 | ||||||
chrX:154261584
|
CCA | C | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.113-1127_113-1126d others(4): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261584 | ||||||
chrX:154261585
|
CA | C | 3 | a0001c0001t0003g0003a0005c0004t0001g0006a0006c0003t0002g0005 | 3 | HG00642.hp1 HG02145.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.113-1111delA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154261585 | |||||
chrX:154261598
|
A | AC | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-1114_113-1113i others(3): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261598 | ||||||
chrX:154261669
|
G | T | 5 | a0001c0001t0001g0002a0001c0001t0003g0003a0003c0005t0001g0004others(2): Show | 5 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.113-1043G>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261669 | ||||||
chrX:154261809
|
ACT | A | 1 | a0005c0004t0001g0006 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.113-900_113-899del others(2): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154261809 | |||||
chrX:154261838
|
A | C | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-874A>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261838 | ||||||
chrX:154261931
|
TG | T | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-778delG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154261931 | |||||
chrX:154262055
|
CT | C | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-656delT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154262055 | ||||||
chrX:154262284
|
G | A | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-428G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154262284 | ||||||
chrX:154262392
|
A | AG | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-318dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154262392 | |||||
chrX:154262480
|
T | C | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-232T>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154262480 | ||||||
chrX:154262613
|
A | AG | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-97dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154262613 | |||||
chrX:154262621
|
G | A | 2 | a0001c0001t0003g0003a0005c0004t0001g0006 | 2 | HG00642.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.113-91G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154262621 | ||||||
chrX:154262675
|
GC | G | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.113-34delC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154262675 | |||||
chrX:154262688
|
C | T | 1 | a0002c0006t0001g0001 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.113-24C>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154262688 | ||||||
chrX:154263095
|
CT | C | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.409+88delT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154263095 | ||||||
chrX:154263152
|
GT | G | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.409+146delT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 154263152 | |||||
chrX:154263326
|
C | CG | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.409+322dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 154263326 | |||||
chrX:154263335
|
TG | T | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.409+330delG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 154263335 | |||||
chrX:154263354
|
T | TC | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.409+350dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 154263354 | |||||
chrX:154263402
|
T | C | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.409+394T>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154263402 | ||||||
chrX:154263900
|
A | AC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.409+896dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 154263900 | |||||
chrX:154263911
|
G | C | 1 | a0005c0004t0001g0006 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.409+903G>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154263911 | ||||||
chrX:154263940
|
A | C | 2 | a0001c0001t0001g0002a0001c0001t0003g0003 | 2 | HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.409+932A>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154263940 | ||||||
chrX:154263957
|
A | G | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.409+949A>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154263957 | ||||||
chrX:154264029
|
TC | T | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.410-965delC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 154264029 | |||||
chrX:154264217
|
AT | A | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.410-778delT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264217 | ||||||
chrX:154264238
|
AG | A | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.410-756delG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 154264238 | |||||
chrX:154264306
|
TA | T | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.410-686delA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 154264306 | |||||
chrX:154264656
|
G | A | 5 | a0001c0001t0001g0002a0001c0001t0003g0003a0003c0005t0001g0004others(2): Show | 5 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.410-340G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264656 | ||||||
chrX:154264668
|
C | G | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.410-328C>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264668 | ||||||
chrX:154264669
|
G | C | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.410-327G>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264669 | ||||||
chrX:154264735
|
C | G | 5 | a0001c0001t0001g0002a0001c0001t0003g0003a0003c0005t0001g0004others(2): Show | 5 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.410-261C>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264735 | ||||||
chrX:154264825
|
T | G | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.410-171T>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264825 | ||||||
chrX:154264828
|
C | A | 2 | a0001c0001t0001g0002a0001c0001t0003g0003 | 2 | HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.410-168C>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264828 | ||||||
chrX:154264864
|
G | GT | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.410-126dupT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 154264864 | |||||
chrX:154264932
|
TG | T | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.410-61delG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 154264932 | |||||
chrX:154264987
|
T | TC | 2 | a0001c0001t0003g0003a0006c0003t0002g0005 | 2 | HG02145.hp1 HG02572.hp1 |
splice_region_variant&intron_variant | LOW | c.410-5dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 154264987 | |||||
chrX:154265292
|
T | TA | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.578+129dupA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154265292 | |||||
chrX:154265309
|
T | TC | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.578+149dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154265309 | |||||
chrX:154265392
|
C | CA | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.578+229dupA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154265392 | |||||
chrX:154265452
|
G | GC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.578+294dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154265452 | |||||
chrX:154265550
|
G | C | 4 | a0001c0001t0001g0002a0001c0001t0003g0003a0005c0004t0001g0006others(1): Show | 4 | HG00642.hp1 HG02145.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.578+386G>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154265550 | ||||||
chrX:154265562
|
G | A | 2 | a0001c0001t0001g0002a0001c0001t0003g0003 | 2 | HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.578+398G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154265562 | ||||||
chrX:154265637
|
T | TC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.578+475dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154265637 | |||||
chrX:154265775
|
T | TC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.578+614dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154265775 | |||||
chrX:154265858
|
TA | T | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.578+698delA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154265858 | |||||
chrX:154265943
|
T | TG | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-686dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154265943 | |||||
chrX:154265951
|
T | TGAAAATG others(334): Show |
1 | a0001c0001t0001g0002 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.579-662_579-661ins others(341): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154265951 | |||||
chrX:154265952
|
G | GA | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-676dupA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154265952 | |||||
chrX:154266043
|
A | AG | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-586dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266043 | |||||
chrX:154266166
|
G | A | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.579-466G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154266166 | ||||||
chrX:154266187
|
A | AT | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-437dupT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266187 | |||||
chrX:154266220
|
CTA | C | 4 | a0001c0001t0001g0002a0001c0001t0003g0003a0005c0004t0001g0006others(1): Show | 4 | HG00642.hp1 HG02145.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.579-410_579-409del others(2): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266220 | |||||
chrX:154266227
|
A | T | 4 | a0001c0001t0001g0002a0001c0001t0003g0003a0005c0004t0001g0006others(1): Show | 4 | HG00642.hp1 HG02145.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.579-405A>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154266227 | ||||||
chrX:154266278
|
T | TC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-352dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266278 | |||||
chrX:154266317
|
TG | T | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.579-313delG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266317 | |||||
chrX:154266342
|
G | T | 3 | a0001c0001t0001g0002a0001c0001t0003g0003a0006c0003t0002g0005 | 3 | HG02145.hp1 HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.579-290G>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154266342 | ||||||
chrX:154266387
|
TA | T | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.579-240delA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266387 | |||||
chrX:154266405
|
A | G | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-227A>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154266405 | ||||||
chrX:154266407
|
C | A | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-225C>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154266407 | ||||||
chrX:154266425
|
G | GT | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-203dupT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266425 | |||||
chrX:154266434
|
T | TG | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.579-195dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266434 | |||||
chrX:154266458
|
G | GC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-173dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266458 | |||||
chrX:154266473
|
G | GC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-157dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266473 | |||||
chrX:154266533
|
T | TA | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.579-92dupA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266533 | |||||
chrX:154266544
|
A | AC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-84dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266544 | |||||
chrX:154266580
|
T | TC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-50dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266580 | |||||
chrX:154266589
|
A | ACC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-40_579-39dupCC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266589 | |||||
chrX:154266885
|
A | G | 1 | a0005c0004t0001g0006 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.744+88A>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | chrX | 154266885 | ||||||
chrX:154266890
|
T | TTCCTC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.744+93_744+94insTC others(3): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | chrX | 154266890 | ||||||
chrX:154266892
|
C | A | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.744+95C>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | chrX | 154266892 | ||||||
chrX:154266918
|
A | AC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.744+125dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154266918 | |||||
chrX:154267041
|
G | GC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.744+246dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267041 | |||||
chrX:154267071
|
G | C | 3 | a0001c0001t0001g0002a0001c0001t0003g0003a0006c0003t0002g0005 | 3 | HG02145.hp1 HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.744+274G>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | chrX | 154267071 | ||||||
chrX:154267107
|
T | TC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.744+311dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267107 | |||||
chrX:154267173
|
AC | A | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.744+378delC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267173 | |||||
chrX:154267191
|
G | GT | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.744+399dupT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267191 | |||||
chrX:154267196
|
T | TA | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.744+400dupA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267196 | |||||
chrX:154267225
|
C | CT | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.744+432dupT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267225 | |||||
chrX:154267276
|
G | GC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.744+485dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267276 | |||||
chrX:154267285
|
A | AC | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.744+491dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267285 | |||||
chrX:154267348
|
A | AC | 2 | a0001c0001t0003g0003a0006c0003t0002g0005 | 2 | HG02145.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.744+557dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267348 | |||||
chrX:154267479
|
G | GC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.744+684dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267479 | |||||
chrX:154267485
|
G | GC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.744+691dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267485 | |||||
chrX:154267556
|
A | AC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.744+763dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267556 | |||||
chrX:154267586
|
AG | A | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.745-764delG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267586 | |||||
chrX:154267611
|
T | TA | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.745-740dupA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267611 | |||||
chrX:154267708
|
T | TC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.745-640dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267708 | |||||
chrX:154267848
|
G | GC | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.745-501dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267848 | |||||
chrX:154267863
|
ACC | A | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.745-488_745-487del others(2): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | chrX | 154267863 | ||||||
chrX:154267875
|
G | GA | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.745-477_745-476ins others(1): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | chrX | 154267875 | ||||||
chrX:154267879
|
A | AG | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.745-471dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154267879 | |||||
chrX:154267907
|
A | G | 7 | a0001c0001t0001g0002a0001c0001t0003g0003a0002c0006t0001g0001others(4): Show | 7 | HG00621.hp1 HG00642.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.745-445A>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | chrX | 154267907 | ||||||
chrX:154268083
|
T | TC | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.745-268dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154268083 | |||||
chrX:154268089
|
A | G | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.745-263A>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | chrX | 154268089 | ||||||
chrX:154268181
|
TC | T | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.745-166delC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 154268181 | |||||
chrX:154268650
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0003g0003a0003c0005t0001g0004 | 3 | HG02486.hp1 HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.984+59C>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154268650 | ||||||
chrX:154268655
|
G | GC | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.984+68dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154268655 | |||||
chrX:154268724
|
C | CG | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.984+136dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154268724 | |||||
chrX:154268860
|
C | T | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.984+269C>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154268860 | ||||||
chrX:154269001
|
CA | C | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.984+412delA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154269001 | |||||
chrX:154269115
|
T | C | 6 | a0001c0001t0001g0002a0001c0001t0003g0003a0003c0005t0001g0004others(3): Show | 6 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.984+524T>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154269115 | ||||||
chrX:154269221
|
AC | A | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.984+632delC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154269221 | |||||
chrX:154269260
|
G | GA | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.984+670dupA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154269260 | |||||
chrX:154269294
|
AG | A | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.984+705delG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154269294 | |||||
chrX:154269460
|
T | C | 6 | a0001c0001t0001g0002a0001c0001t0003g0003a0003c0005t0001g0004others(3): Show | 6 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.984+869T>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154269460 | ||||||
chrX:154269591
|
TA | T | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.984+1003delA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154269591 | |||||
chrX:154269629
|
T | TC | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.984+1040dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154269629 | |||||
chrX:154270052
|
G | T | 6 | a0001c0001t0001g0002a0001c0001t0003g0003a0003c0005t0001g0004others(3): Show | 6 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.985-822G>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154270052 | ||||||
chrX:154270166
|
G | GGA | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.985-707_985-706ins others(2): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154270166 | |||||
chrX:154270218
|
GA | G | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.985-650delA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154270218 | |||||
chrX:154270460
|
G | A | 3 | a0001c0001t0001g0002a0001c0001t0003g0003a0003c0005t0001g0004 | 3 | HG02486.hp1 HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.985-414G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154270460 | ||||||
chrX:154270528
|
A | AG | 1 | a0001c0001t0003g0003 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.985-345dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154270528 | |||||
chrX:154270730
|
C | A | 1 | a0003c0005t0001g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.985-144C>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154270730 | ||||||
chrX:154270794
|
A | AG | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.985-77dupG | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154270794 | |||||
chrX:154270808
|
C | CT | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.985-66_985-65insT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154270808 | ||||||
chrX:154270852
|
A | AT | 1 | a0006c0003t0002g0005 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.985-21dupT | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 154270852 |