geneid | 10410 |
---|---|
ensemblid | ENSG00000142089.17 |
hgncid | 5414 |
symbol | IFITM3 |
name | interferon induced transmembrane protein 3 |
refseq_nuc | NM_021034.3 |
refseq_prot | NP_066362.2 |
ensembl_nuc | ENST00000399808.5 |
ensembl_prot | ENSP00000382707.4 |
mane_status | MANE Select |
chr | chr11 |
start | 319676 |
end | 320860 |
strand | - |
ver | v1.2 |
region | chr11:319676-320860 |
region5000 | chr11:314676-325860 |
regionname0 | IFITM3_chr11_319676_320860 |
regionname5000 | IFITM3_chr11_314676_325860 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 133 | 31 | 4 | 14 | 0 | 8 | 4 | 0 | IFITM3_chr11_314676_325860 | IFITM3 | copy fasta | chr11 | 314676 | 325860 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 19 | 1 | 11 | 0 | 5 | 2 | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
g0002 | 1/0 | 6 | 0 | 2 | 0 | 3 | 0 | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
g0004 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 402 | 29 | 2 | 14 | 0 | 8 | 4 | IFITM3_chr11_314676_325860 | IFITM3 | copy fasta | chr11 | 314676 | 325860 |
a0001c0002 | 0/0 | 402 | 2 | 2 | 0 | 0 | 0 | 0 | IFITM3_chr11_314676_325860 | IFITM3 | copy fasta | chr11 | 314676 | 325860 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 611 | 20 | 1 | 11 | 0 | 5 | 3 | IFITM3_chr11_314676_325860 | IFITM3 | copy fasta | chr11 | 314676 | 325860 |
a0001c0001t0002 | 1/0 | 611 | 9 | 1 | 3 | 0 | 3 | 1 | IFITM3_chr11_314676_325860 | IFITM3 | copy fasta | chr11 | 314676 | 325860 |
a0001c0002t0002 | 0/0 | 611 | 2 | 2 | 0 | 0 | 0 | 0 | IFITM3_chr11_314676_325860 | IFITM3 | copy fasta | chr11 | 314676 | 325860 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 19 | 1 | 11 | 0 | 5 | 2 | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
a0001c0001t0002g0002 | 1/0 | 6 | 0 | 2 | 0 | 3 | 0 | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
a0001c0001t0002g0004 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
a0001c0001t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
a0001c0002t0002g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG00099 | hp2 | a0001 | c0001 | t0002 | g0002 | EUR | GBR | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG00323 | hp1 | a0001 | c0001 | t0002 | g0002 | EUR | FIN | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG00323 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | FIN | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG00639 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG00735 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01074 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01074 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01167 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01261 | hp1 | a0001 | c0001 | t0002 | g0004 | AMR | CLM | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01261 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01361 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01361 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01496 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01516 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01516 | hp2 | a0001 | c0001 | t0002 | g0002 | EUR | IBS | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01891 | hp1 | a0001 | c0002 | t0002 | g0003 | AFR | ACB | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG01891 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG03490 | hp2 | a0001 | c0001 | t0002 | g0004 | SAS | PJL | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG03579 | hp1 | a0001 | c0001 | t0002 | g0006 | AFR | MSL | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG03579 | hp2 | a0001 | c0002 | t0002 | g0003 | AFR | MSL | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
HG04228 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
NA20805 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0002 | g0002 | REF | REF | IFITM3_chr11_314676_325860 | IFITM3 | chr11 | 314676 | 325860 |
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 |
---|
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:320772
|
A | G | 1 | a0001c0002 | 2 | HG01891.hp1 HG03579.hp2 |
synonymous_variant | LOW | c.42T>C | p.Ser14Ser | IFITM3 | ENSG00000142089.17 | transcript | ENST00000399808.5 | protein_coding | 1/2 | 89/611 | 42/402 | 14/133 | chr11 | 320772 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:320836
|
C | T | 1 | a0001c0001t0001 | 20 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(17): Show |
5_prime_UTR_variant | MODIFIER | c.-23G>A | IFITM3 | ENSG00000142089.17 | transcript | ENST00000399808.5 | protein_coding | 1/2 | 23 | chr11 | 320836 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:320115
|
G | A | 4 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0002g0004others(1): Show | 23 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(20): Show |
intron_variant | MODIFIER | c.250-125C>T | IFITM3 | ENSG00000142089.17 | transcript | ENST00000399808.5 | protein_coding | 1/1 | chr11 | 320115 | ||||||
chr11:320166
|
T | C | 5 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0002g0004others(2): Show | 25 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(22): Show |
intron_variant | MODIFIER | c.250-176A>G | IFITM3 | ENSG00000142089.17 | transcript | ENST00000399808.5 | protein_coding | 1/1 | chr11 | 320166 | ||||||
chr11:320237
|
C | G | 4 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0002g0004others(1): Show | 23 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(20): Show |
intron_variant | MODIFIER | c.250-247G>C | IFITM3 | ENSG00000142089.17 | transcript | ENST00000399808.5 | protein_coding | 1/1 | chr11 | 320237 | ||||||
chr11:320363
|
A | C | 1 | a0001c0002t0002g0003 | 2 | HG01891.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.249+202T>G | IFITM3 | ENSG00000142089.17 | transcript | ENST00000399808.5 | protein_coding | 1/1 | chr11 | 320363 | ||||||
chr11:320394
|
C | T | 2 | a0001c0001t0001g0001a0001c0001t0002g0004 | 21 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(18): Show |
intron_variant | MODIFIER | c.249+171G>A | IFITM3 | ENSG00000142089.17 | transcript | ENST00000399808.5 | protein_coding | 1/1 | chr11 | 320394 |