Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 642778 |
| ensemblid | ENSG00000224712.13 |
| hgncid | 41978 |
| symbol | NPIPA3 |
| name | nuclear pore complex interacting protein family member A3 |
| refseq_nuc | NM_001395487.1 |
| refseq_prot | NP_001382416.1 |
| ensembl_nuc | ENST00000531598.7 |
| ensembl_prot | ENSP00000437133.1 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 14703411 |
| end | 14726342 |
| strand | + |
| ver | v1.2 |
| region | chr16:14703411-14726342 |
| region5000 | chr16:14698411-14731342 |
| regionname0 | NPIPA3_chr16_14703411_14726342 |
| regionname5000 | NPIPA3_chr16_14698411_14731342 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 369 | 21 | 11 | 0 | 6 | 2 | 2 | 4 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | MVKLS others(364): Show |
chr16 | 14698411 | 14731342 |
| a0002 | 0/0 | 388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | MVKLS others(383): Show |
chr16 | 14698411 | 14731342 |
| a0003 | 0/0 | 369 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | MVKLS others(364): Show |
chr16 | 14698411 | 14731342 |
| a0004 | 0/0 | 369 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | MVKLS others(364): Show |
chr16 | 14698411 | 14731342 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1107 | 21 | 11 | 0 | 6 | 2 | 2 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | ATGGT others(1102): Show |
chr16 | 14698411 | 14731342 | ||
| a0002c0003 | 0/0 | 1164 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | ATGGT others(1159): Show |
chr16 | 14698411 | 14731342 | ||
| a0003c0004 | 0/0 | 1107 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | ATGGT others(1102): Show |
chr16 | 14698411 | 14731342 | ||
| a0004c0002 | 0/0 | 1107 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | ATGGT others(1102): Show |
chr16 | 14698411 | 14731342 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1747 | 21 | 11 | 0 | 6 | 2 | 2 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | AGGGC others(1742): Show |
chr16 | 14698411 | 14731342 |
| a0002c0003t0001 | 0/0 | 1804 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | AGGGC others(1799): Show |
chr16 | 14698411 | 14731342 |
| a0003c0004t0001 | 0/0 | 1747 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | AGGGC others(1742): Show |
chr16 | 14698411 | 14731342 |
| a0004c0002t0002 | 0/0 | 1747 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | AGGGC others(1742): Show |
chr16 | 14698411 | 14731342 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0002c0003t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0003c0004t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| a0004c0002t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0019 | EUR | GBR | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0004 | EUR | GBR | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | CHS | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | CHS | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | ACB | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0012 | AFR | ACB | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | ACB | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ACB | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | GWD | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG02922 | hp1 | a0002 | c0003 | t0001 | g0023 | AFR | ESN | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | ESN | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0008 | AFR | ESN | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | ESN | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0010 | SAS | PJL | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | LWK | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| NA19043 | hp2 | a0003 | c0004 | t0001 | g0015 | AFR | LWK | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| NA20129 | hp2 | a0004 | c0002 | t0002 | g0020 | AFR | ASW | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:14719911 | C | T | 1 | a0003 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.334C>T | p.Arg112Cys | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 5/10 | 922/1747 | 334/1110 | 112/369 | chr16 | 14719911 | |||
| chr16:14720224 | G | A | 1 | a0004 | 1 | NA20129.hp2 | missense_variant | MODERATE | c.484G>A | p.Ala162Thr | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/10 | 1072/1747 | 484/1110 | 162/369 | chr16 | 14720224 | |||
| chr16:14725899 | C | T | 1 | a0002 | 1 | HG02922.hp1 | missense_variant | MODERATE | c.716C>T | p.Ala239Val | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 10/10 | 1304/1747 | 716/1110 | 239/369 | chr16 | 14725899 | |||
| chr16:14726026 | C | CCTCAAGA others(50): Show |
1 | a0002 | 1 | HG02922.hp1 | conservative_inframe_insertion | MODERATE | c.855_856insTCCGAGCG others(49): Show |
p.Pro285_Pro286insSe others(55): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 10/10 | 1444/1747 | 856/1110 | 286/369 | INFO_REALIGN_3_PRIME | chr16 | 14726026 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:14703631 | C | G | 1 | a0004c0002t0002 | 1 | NA20129.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-368C>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/10 | chr16 | 14703631 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:14705701 | T | G | 1 | a0001c0001t0001g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-118+1820T>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14705701 | |||||||
| chr16:14706418 | G | A | 1 | a0001c0001t0001g0002 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.-117-2247G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14706418 | |||||||
| chr16:14706750 | A | G | 1 | a0001c0001t0001g0024 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-117-1915A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14706750 | |||||||
| chr16:14708050 | A | C | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-117-615A>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14708050 | |||||||
| chr16:14708289 | A | G | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-117-376A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14708289 | |||||||
| chr16:14708308 | G | A | 1 | a0001c0001t0001g0003 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-117-357G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14708308 | |||||||
| chr16:14708512 | A | G | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-117-153A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14708512 | |||||||
| chr16:14708625 | C | A | 2 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
2 | HG00099.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.-117-40C>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14708625 | |||||||
| chr16:14709918 | A | G | 1 | a0001c0001t0001g0022 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.120+855A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14709918 | |||||||
| chr16:14710033 | A | AT | 3 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 |
3 | HG02723.hp1 HG03139.hp2 HG03490.hp2 |
intron_variant | MODIFIER | c.120+986dupT | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | 14710033 | ||||||
| chr16:14710033 | A | T | 3 | a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 |
3 | NA18964.hp2 NA19043.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.120+970A>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14710033 | |||||||
| chr16:14710034 | T | TA | 3 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 |
3 | HG00099.hp2 HG00438.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.120+971_120+972ins others(1): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14710034 | |||||||
| chr16:14710036 | T | A | 1 | a0001c0001t0001g0005 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.120+973T>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14710036 | |||||||
| chr16:14710707 | C | CTGTTTTG others(4): Show |
1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.120+1654_120+1655i others(13): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | 14710707 | ||||||
| chr16:14710975 | C | A | 1 | a0001c0001t0001g0022 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.120+1912C>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14710975 | |||||||
| chr16:14712044 | C | A | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.120+2981C>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14712044 | |||||||
| chr16:14712315 | C | CCCCCTTC others(4): Show |
1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.120+3268_120+3278d others(13): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | 14712315 | ||||||
| chr16:14712315 | CCCCCTTC others(4): Show |
C | 1 | a0001c0001t0001g0007 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.120+3268_120+3278d others(13): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | 14712315 | ||||||
| chr16:14712333 | C | T | 1 | a0001c0001t0001g0021 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.120+3270C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14712333 | |||||||
| chr16:14712432 | C | T | 10 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 others(7): Show |
10 | HG00099.hp1 HG00099.hp2 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.120+3369C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14712432 | |||||||
| chr16:14712634 | C | G | 12 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(9): Show |
12 | HG00099.hp1 HG00099.hp2 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.121-3434C>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14712634 | |||||||
| chr16:14712711 | G | A | 1 | a0001c0001t0001g0008 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.121-3357G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14712711 | |||||||
| chr16:14712989 | CT | C | 3 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 |
3 | HG00099.hp2 HG02723.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.121-3071delT | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | 14712989 | ||||||
| chr16:14713247 | G | A | 3 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0003c0004t0001g0015 |
3 | HG02723.hp2 HG02922.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.121-2821G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14713247 | |||||||
| chr16:14713346 | G | T | 1 | a0003c0004t0001g0015 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.121-2722G>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14713346 | |||||||
| chr16:14713517 | A | G | 1 | a0001c0001t0001g0009 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.121-2551A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14713517 | |||||||
| chr16:14714028 | C | G | 1 | a0001c0001t0001g0005 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.121-2040C>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14714028 | |||||||
| chr16:14714365 | G | A | 1 | a0001c0001t0001g0006 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.121-1703G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14714365 | |||||||
| chr16:14714371 | T | G | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.121-1697T>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14714371 | |||||||
| chr16:14714617 | G | A | 14 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(11): Show |
14 | HG00099.hp2 HG00438.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.121-1451G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14714617 | |||||||
| chr16:14714940 | C | T | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.121-1128C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14714940 | |||||||
| chr16:14715057 | G | A | 1 | a0001c0001t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.121-1011G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14715057 | |||||||
| chr16:14715277 | A | C | 1 | a0001c0001t0001g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.121-791A>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14715277 | |||||||
| chr16:14715644 | A | G | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.121-424A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14715644 | |||||||
| chr16:14715667 | C | T | 1 | a0001c0001t0001g0013 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.121-401C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14715667 | |||||||
| chr16:14716624 | A | G | 1 | a0001c0001t0001g0016 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.249+428A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14716624 | |||||||
| chr16:14716815 | G | T | 1 | a0004c0002t0002g0020 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.249+619G>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14716815 | |||||||
| chr16:14716873 | G | A | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.249+677G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14716873 | |||||||
| chr16:14717012 | A | C | 1 | a0001c0001t0001g0016 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.249+816A>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14717012 | |||||||
| chr16:14717988 | T | G | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.249+1792T>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14717988 | |||||||
| chr16:14718222 | C | T | 1 | a0004c0002t0002g0020 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.250-1605C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14718222 | |||||||
| chr16:14718843 | A | G | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.250-984A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14718843 | |||||||
| chr16:14718854 | A | AT | 4 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 others(1): Show |
4 | HG00099.hp1 HG02280.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.250-950dupT | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14718854 | ||||||
| chr16:14718854 | AT | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 |
3 | HG02723.hp2 HG03139.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.250-950delT | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14718854 | ||||||
| chr16:14719471 | TTG | T | 7 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(4): Show |
7 | HG02258.hp1 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.250-305_250-304del others(2): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14719471 | ||||||
| chr16:14719471 | TTGTG | T | 6 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(3): Show |
6 | HG00438.hp1 HG00438.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.250-307_250-304del others(4): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14719471 | ||||||
| chr16:14719471 | TTGTGTG | T | 2 | a0001c0001t0001g0011 a0001c0001t0001g0017 |
2 | HG02280.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.250-309_250-304del others(6): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14719471 | ||||||
| chr16:14719471 | TTGTGTGT others(3): Show |
T | 2 | a0001c0001t0001g0005 a0004c0002t0002g0020 |
2 | HG03490.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.250-313_250-304del others(10): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14719471 | ||||||
| chr16:14719471 | TTGTGTGT others(5): Show |
T | 4 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0016 others(1): Show |
4 | HG00099.hp2 HG02280.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.250-315_250-304del others(12): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14719471 | ||||||
| chr16:14719988 | A | G | 1 | a0001c0001t0001g0007 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.349+62A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 5/9 | chr16 | 14719988 | |||||||
| chr16:14720482 | T | C | 4 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 others(1): Show |
4 | HG02258.hp1 HG02258.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.494+248T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14720482 | |||||||
| chr16:14720483 | T | C | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.494+249T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14720483 | |||||||
| chr16:14720725 | G | A | 1 | a0001c0001t0001g0003 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.494+491G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14720725 | |||||||
| chr16:14720737 | C | G | 1 | a0003c0004t0001g0015 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.494+503C>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14720737 | |||||||
| chr16:14720946 | A | AT | 4 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(1): Show |
4 | HG00438.hp1 HG02723.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.494+739dupT | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr16 | 14720946 | ||||||
| chr16:14721616 | G | A | 4 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(1): Show |
4 | HG00099.hp1 HG02280.hp2 NA18964.hp2 others(1): Show |
intron_variant | MODIFIER | c.494+1382G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14721616 | |||||||
| chr16:14722298 | G | A | 1 | a0001c0001t0001g0009 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.495-894G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14722298 | |||||||
| chr16:14722301 | T | C | 14 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(11): Show |
14 | HG00099.hp1 HG00099.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.495-891T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14722301 | |||||||
| chr16:14722506 | A | C | 1 | a0001c0001t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.495-686A>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14722506 | |||||||
| chr16:14723361 | C | T | 1 | a0001c0001t0001g0016 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.602+62C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 7/9 | chr16 | 14723361 | |||||||
| chr16:14723941 | T | C | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.603-377T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 7/9 | chr16 | 14723941 | |||||||
| chr16:14723990 | T | C | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.603-328T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 7/9 | chr16 | 14723990 | |||||||
| chr16:14724055 | T | C | 4 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(1): Show |
4 | HG00099.hp2 HG00438.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.603-263T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 7/9 | chr16 | 14724055 | |||||||
| chr16:14724154 | C | T | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.603-164C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 7/9 | chr16 | 14724154 | |||||||
| chr16:14724596 | C | T | 1 | a0001c0001t0001g0018 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.699+73C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 9/9 | chr16 | 14724596 | |||||||
| chr16:14724641 | G | A | 1 | a0001c0001t0001g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.699+118G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 9/9 | chr16 | 14724641 | |||||||
| chr16:14724786 | T | C | 1 | a0002c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.699+263T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 9/9 | chr16 | 14724786 | |||||||
| chr16:14725698 | C | T | 2 | a0001c0001t0001g0008 a0001c0001t0001g0012 |
2 | HG02258.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.700-185C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 9/9 | chr16 | 14725698 | |||||||
| chr16:14725706 | C | T | 1 | a0001c0001t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.700-177C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 9/9 | chr16 | 14725706 |