Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 440353 |
| ensemblid | ENSG00000169203.18 |
| hgncid | 37491 |
| symbol | NPIPB12 |
| name | nuclear pore complex interacting protein family member B12 |
| refseq_nuc | NM_001395931.1 |
| refseq_prot | NP_001382860.1 |
| ensembl_nuc | ENST00000550665.6 |
| ensembl_prot | ENSP00000447597.2 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 29483534 |
| end | 29506408 |
| strand | - |
| ver | v1.2 |
| region | chr16:29483534-29506408 |
| region5000 | chr16:29478534-29511408 |
| regionname0 | NPIPB12_chr16_29483534_29506408 |
| regionname5000 | NPIPB12_chr16_29478534_29511408 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 928 | 14 | 0 | 6 | 5 | 2 | 0 | 5 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | MVKLS others(923): Show |
chr16 | 29478534 | 29511408 |
| a0002 | 0/0 | 970 | 5 | 0 | 3 | 2 | 0 | 0 | 2 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | MVKLS others(965): Show |
chr16 | 29478534 | 29511408 |
| a0003 | 0/0 | 1012 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | MVKLS others(1007): Show |
chr16 | 29478534 | 29511408 |
| a0004 | 0/0 | 636 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | MVKLS others(631): Show |
chr16 | 29478534 | 29511408 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 2784 | 7 | 0 | 3 | 1 | 2 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATGGT others(2779): Show |
chr16 | 29478534 | 29511408 | ||
| a0001c0002 | 0/0 | 2784 | 3 | 0 | 1 | 2 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATGGT others(2779): Show |
chr16 | 29478534 | 29511408 | ||
| a0001c0004 | 0/0 | 2784 | 2 | 0 | 2 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATGGT others(2779): Show |
chr16 | 29478534 | 29511408 | ||
| a0001c0005 | 0/0 | 2784 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATGGT others(2779): Show |
chr16 | 29478534 | 29511408 | ||
| a0001c0009 | 0/0 | 2784 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATGGT others(2779): Show |
chr16 | 29478534 | 29511408 | ||
| a0002c0003 | 0/0 | 2910 | 3 | 0 | 3 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATGGT others(2905): Show |
chr16 | 29478534 | 29511408 | ||
| a0002c0006 | 0/0 | 2910 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATGGT others(2905): Show |
chr16 | 29478534 | 29511408 | ||
| a0002c0007 | 0/0 | 2910 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATGGT others(2905): Show |
chr16 | 29478534 | 29511408 | ||
| a0003c0008 | 0/0 | 3036 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATGGT others(3031): Show |
chr16 | 29478534 | 29511408 | ||
| a0004c0010 | 0/0 | 1908 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATGGT others(1903): Show |
chr16 | 29478534 | 29511408 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3607 | 2 | 0 | 0 | 1 | 1 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATAGA others(3602): Show |
chr16 | 29478534 | 29511408 |
| a0001c0001t0002 | 1/0 | 3605 | 5 | 0 | 3 | 0 | 1 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATAGA others(3600): Show |
chr16 | 29478534 | 29511408 |
| a0001c0002t0001 | 0/0 | 3607 | 3 | 0 | 1 | 2 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATAGA others(3602): Show |
chr16 | 29478534 | 29511408 |
| a0001c0004t0002 | 0/0 | 3605 | 2 | 0 | 2 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATAGA others(3600): Show |
chr16 | 29478534 | 29511408 |
| a0001c0005t0001 | 0/0 | 3607 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATAGA others(3602): Show |
chr16 | 29478534 | 29511408 |
| a0001c0009t0003 | 0/0 | 3607 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATAGA others(3602): Show |
chr16 | 29478534 | 29511408 |
| a0002c0003t0001 | 0/0 | 3733 | 3 | 0 | 3 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATAGA others(3728): Show |
chr16 | 29478534 | 29511408 |
| a0002c0006t0001 | 0/0 | 3733 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATAGA others(3728): Show |
chr16 | 29478534 | 29511408 |
| a0002c0007t0001 | 0/0 | 3733 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATAGA others(3728): Show |
chr16 | 29478534 | 29511408 |
| a0003c0008t0002 | 0/0 | 3857 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATAGA others(3852): Show |
chr16 | 29478534 | 29511408 |
| a0004c0010t0001 | 0/0 | 2731 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | ATAGA others(2726): Show |
chr16 | 29478534 | 29511408 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0001t0002g0016 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0001t0002g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0001t0002g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0001t0002g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0002t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0002t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0002t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0004t0002g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0004t0002g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0005t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0001c0009t0003g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0002c0003t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0002c0003t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0002c0003t0001g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0002c0006t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0002c0007t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0003c0008t0002g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| a0004c0010t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0002 | g0017 | EUR | GBR | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0007 | EUR | GBR | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| HG00741 | hp1 | a0001 | c0001 | t0002 | g0020 | AMR | PUR | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| HG00741 | hp2 | a0001 | c0001 | t0002 | g0021 | AMR | PUR | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| HG01346 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| HG01346 | hp2 | a0001 | c0001 | t0002 | g0019 | AMR | CLM | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| HG01978 | hp1 | a0002 | c0003 | t0001 | g0010 | AMR | PEL | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| HG01978 | hp2 | a0002 | c0003 | t0001 | g0011 | AMR | PEL | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| HG01981 | hp1 | a0001 | c0004 | t0002 | g0015 | AMR | PEL | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| HG01981 | hp2 | a0003 | c0008 | t0002 | g0018 | AMR | PEL | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| HG02004 | hp1 | a0002 | c0003 | t0001 | g0008 | AMR | PEL | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| HG02004 | hp2 | a0001 | c0004 | t0002 | g0014 | AMR | PEL | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| NA18944 | hp1 | a0002 | c0006 | t0001 | g0006 | EAS | JPT | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| NA18944 | hp2 | a0001 | c0005 | t0001 | g0004 | EAS | JPT | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| NA18972 | hp1 | a0002 | c0007 | t0001 | g0009 | EAS | JPT | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| NA18972 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| NA18982 | hp1 | a0004 | c0010 | t0001 | g0012 | EAS | JPT | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| NA18982 | hp2 | a0001 | c0009 | t0003 | g0005 | EAS | JPT | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| NA18994 | hp1 | a0001 | c0002 | t0001 | g0003 | EAS | JPT | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0002 | g0016 | REF | REF | NPIPB12_chr16_29478534_29511408 | NPIPB12 | chr16 | 29478534 | 29511408 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:29484181 | A | AGAAGGTG others(119): Show |
1 | a0002 | 5 | HG01978.hp1 HG01978.hp2 HG02004.hp1 others(2): Show |
disruptive_inframe_insertion | MODERATE | c.2169_2294dupCGAGCG others(120): Show |
p.Ser765_Glu766insGl others(124): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2957/3605 | 2294/2787 | 765/928 | chr16 | 29484181 | |||
| chr16:29484237 | CGGCAGGT others(869): Show |
C | 1 | a0004 | 1 | NA18982.hp1 | conservative_inframe_deletion | MODERATE | c.1363_2238del | p.Phe455_Ala746del | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2901/3605 | 1363/2787 | 455/928 | chr16 | 29484237 | |||
| chr16:29484349 | C | CCCCCGCA others(6): Show |
1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
frameshift_variant | HIGH | c.2114_2126dupAGCGTC others(7): Show |
p.Pro710fs | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2789/3605 | 2126/2787 | 709/928 | chr16 | 29484349 | |||
| chr16:29484457 | C | CGCTGAGG others(119): Show |
1 | a0001 | 2 | NA18944.hp2 NA18994.hp1 |
disruptive_inframe_insertion | MODERATE | c.2018_2019insAGATGA others(120): Show |
p.Ala673_Asp674insAs others(124): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2681/3605 | 2018/2787 | 673/928 | chr16 | 29484457 | |||
| chr16:29484475 | CCCCCGCA others(6): Show |
C | 1 | a0001 | 6 | HG01346.hp1 HG01981.hp1 HG02004.hp2 others(3): Show |
frameshift_variant | HIGH | c.1988_2000delAGCGTC others(7): Show |
p.Glu663fs | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2663/3605 | 1988/2787 | 663/928 | chr16 | 29484475 | |||
| chr16:29484488 | T | TCCCCGCA others(119): Show |
1 | a0002 | 1 | NA18972.hp1 | conservative_inframe_insertion | MODERATE | c.1862_1987dupGCCGCT others(120): Show |
p.Gly621_Gly662dup | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2650/3605 | 1987/2787 | 663/928 | chr16 | 29484488 | |||
| chr16:29484596 | C | T | 1 | a0001 | 3 | HG01346.hp1 NA18972.hp2 NA18994.hp2 |
missense_variant | MODERATE | c.1880G>A | p.Arg627Gln | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2543/3605 | 1880/2787 | 627/928 | chr16 | 29484596 | |||
| chr16:29484614 | C | CCCCCGCA others(6): Show |
1 | a0001 | 3 | HG01346.hp1 NA18972.hp2 NA18994.hp2 |
frameshift_variant | HIGH | c.1849_1861dupAGCGTC others(7): Show |
p.Gly621fs | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2524/3605 | 1861/2787 | 621/928 | chr16 | 29484614 | |||
| chr16:29484628 | CGGCAGGT others(478): Show |
C | 1 | a0001 | 1 | HG00140.hp2 | frameshift_variant | HIGH | c.1363_1847del | p.Phe455fs | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2510/3605 | 1363/2787 | 455/928 | chr16 | 29484628 | |||
| chr16:29484848 | C | G | 1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
missense_variant | MODERATE | c.1628G>C | p.Arg543Pro | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2291/3605 | 1628/2787 | 543/928 | chr16 | 29484848 | |||
| chr16:29484854 | G | T | 1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
missense_variant | MODERATE | c.1622C>A | p.Pro541His | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2285/3605 | 1622/2787 | 541/928 | chr16 | 29484854 | |||
| chr16:29484866 | C | A | 1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
missense_variant | MODERATE | c.1610G>T | p.Gly537Val | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2273/3605 | 1610/2787 | 537/928 | chr16 | 29484866 | |||
| chr16:29484867 | C | A | 1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
missense_variant | MODERATE | c.1609G>T | p.Gly537Cys | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2272/3605 | 1609/2787 | 537/928 | chr16 | 29484867 | |||
| chr16:29484880 | CGGCAGGT others(226): Show |
C | 1 | a0001 | 1 | NA18982.hp2 | frameshift_variant | HIGH | c.1363_1595del | p.Phe455fs | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2258/3605 | 1363/2787 | 455/928 | chr16 | 29484880 | |||
| chr16:29484881 | G | A | 1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
missense_variant | MODERATE | c.1595C>T | p.Pro532Leu | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2258/3605 | 1595/2787 | 532/928 | chr16 | 29484881 | |||
| chr16:29484888 | G | A | 1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
missense_variant | MODERATE | c.1588C>T | p.His530Tyr | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2251/3605 | 1588/2787 | 530/928 | chr16 | 29484888 | |||
| chr16:29484912 | G | A | 1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
missense_variant | MODERATE | c.1564C>T | p.Pro522Ser | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2227/3605 | 1564/2787 | 522/928 | chr16 | 29484912 | |||
| chr16:29484974 | G | C | 1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
missense_variant | MODERATE | c.1502C>G | p.Pro501Arg | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2165/3605 | 1502/2787 | 501/928 | chr16 | 29484974 | |||
| chr16:29484980 | T | G | 1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
missense_variant | MODERATE | c.1496A>C | p.His499Pro | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2159/3605 | 1496/2787 | 499/928 | chr16 | 29484980 | |||
| chr16:29484988 | GCGGAATC others(12): Show |
G | 1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
frameshift_variant | HIGH | c.1469_1487delTGAGCG others(13): Show |
p.Leu490fs | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2150/3605 | 1469/2787 | 490/928 | chr16 | 29484988 | |||
| chr16:29485014 | A | G | 1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
missense_variant | MODERATE | c.1462T>C | p.Tyr488His | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2125/3605 | 1462/2787 | 488/928 | chr16 | 29485014 | |||
| chr16:29485038 | A | G | 1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
missense_variant | MODERATE | c.1438T>C | p.Ser480Pro | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2101/3605 | 1438/2787 | 480/928 | chr16 | 29485038 | |||
| chr16:29485113 | A | AGCGGCCC others(12): Show |
1 | a0001 | 2 | HG01981.hp1 HG02004.hp2 |
frameshift_variant | HIGH | c.1362_1363insGAGCGT others(13): Show |
p.Phe455fs | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2025/3605 | 1362/2787 | 454/928 | chr16 | 29485113 | |||
| chr16:29485113 | A | AGGCAGGT others(245): Show |
1 | a0001 | 4 | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(1): Show |
conservative_inframe_insertion | MODERATE | c.1362_1363insGAGCGT others(246): Show |
p.Ala454_Phe455insGl others(250): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2025/3605 | 1362/2787 | 454/928 | chr16 | 29485113 | |||
| chr16:29485334 | G | GCTGAGGG others(245): Show |
1 | a0003 | 1 | HG01981.hp2 | conservative_inframe_insertion | MODERATE | c.1141_1142insTGGATG others(246): Show |
p.Ser380_Ala381insVa others(250): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 1804/3605 | 1141/2787 | 381/928 | chr16 | 29485334 | |||
| chr16:29485712 | G | C | 1 | a0004 | 1 | NA18982.hp1 | missense_variant | MODERATE | c.764C>G | p.Ser255Cys | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 1427/3605 | 764/2787 | 255/928 | chr16 | 29485712 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:29483971 | G | C | 1 | a0002c0007 | 1 | NA18972.hp1 | synonymous_variant | LOW | c.2505C>G | p.Pro835Pro | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 3168/3605 | 2505/2787 | 835/928 | chr16 | 29483971 | |||
| chr16:29484181 | A | G | 2 | a0001c0004 a0003c0008 |
3 | HG01981.hp1 HG01981.hp2 HG02004.hp2 |
synonymous_variant | LOW | c.2295T>C | p.Ser765Ser | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2958/3605 | 2295/2787 | 765/928 | chr16 | 29484181 | |||
| chr16:29484868 | C | T | 1 | a0001c0004 | 2 | HG01981.hp1 HG02004.hp2 |
synonymous_variant | LOW | c.1608G>A | p.Gly536Gly | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2271/3605 | 1608/2787 | 536/928 | chr16 | 29484868 | |||
| chr16:29485366 | G | A | 1 | a0001c0009 | 1 | NA18982.hp2 | synonymous_variant | LOW | c.1110C>T | p.Ala370Ala | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 1773/3605 | 1110/2787 | 370/928 | chr16 | 29485366 | |||
| chr16:29485447 | G | C | 1 | a0002c0003 | 3 | HG01978.hp1 HG01978.hp2 HG02004.hp1 |
synonymous_variant | LOW | c.1029C>G | p.Pro343Pro | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 1692/3605 | 1029/2787 | 343/928 | chr16 | 29485447 | |||
| chr16:29505512 | A | G | 2 | a0001c0004 a0001c0005 |
3 | HG01981.hp1 HG02004.hp2 NA18944.hp2 |
synonymous_variant | LOW | c.81T>C | p.His27His | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/8 | 744/3605 | 81/2787 | 27/928 | chr16 | 29505512 | |||
| chr16:29505515 | C | T | 1 | a0001c0002 | 3 | HG01346.hp1 NA18972.hp2 NA18994.hp1 |
synonymous_variant | LOW | c.78G>A | p.Gln26Gln | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/8 | 741/3605 | 78/2787 | 26/928 | chr16 | 29505515 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:29483569 | A | G | 1 | a0001c0009t0003 | 1 | NA18982.hp2 | 3_prime_UTR_variant | MODIFIER | c.*120T>C | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 120 | chr16 | 29483569 | ||||||
| chr16:29483658 | A | C | 1 | a0001c0009t0003 | 1 | NA18982.hp2 | 3_prime_UTR_variant | MODIFIER | c.*31T>G | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 31 | chr16 | 29483658 | ||||||
| chr16:29506388 | C | CAT | 8 | a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(5): Show |
13 | HG00140.hp2 HG01346.hp1 HG01978.hp1 others(10): Show |
5_prime_UTR_variant | MODIFIER | c.-644_-643insAT | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 1/8 | 797 | chr16 | 29506388 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:29487030 | A | G | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.642+164T>C | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 7/7 | chr16 | 29487030 | |||||||
| chr16:29488960 | G | T | 12 | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0002t0001g0001 others(9): Show |
12 | HG00140.hp2 HG01346.hp1 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.546-1561C>A | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 5/7 | chr16 | 29488960 | |||||||
| chr16:29488984 | G | A | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.546-1585C>T | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 5/7 | chr16 | 29488984 | |||||||
| chr16:29489152 | G | A | 1 | a0001c0001t0002g0021 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.546-1753C>T | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 5/7 | chr16 | 29489152 | |||||||
| chr16:29489305 | C | T | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.546-1906G>A | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 5/7 | chr16 | 29489305 | |||||||
| chr16:29489312 | T | A | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.546-1913A>T | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 5/7 | chr16 | 29489312 | |||||||
| chr16:29489986 | G | A | 1 | a0002c0007t0001g0009 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.545+1481C>T | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 5/7 | chr16 | 29489986 | |||||||
| chr16:29490094 | T | C | 1 | a0002c0007t0001g0009 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.545+1373A>G | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 5/7 | chr16 | 29490094 | |||||||
| chr16:29490729 | C | CA | 11 | a0001c0001t0001g0007 a0001c0002t0001g0001 a0001c0002t0001g0002 others(8): Show |
11 | HG00140.hp2 HG01346.hp1 HG01978.hp1 others(8): Show |
intron_variant | MODIFIER | c.545+737dupT | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 5/7 | chr16 | 29490729 | |||||||
| chr16:29490904 | T | TA | 10 | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0002g0021 others(7): Show |
10 | HG00140.hp2 HG00741.hp2 HG01346.hp1 others(7): Show |
intron_variant | MODIFIER | c.545+562dupT | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 5/7 | chr16 | 29490904 | |||||||
| chr16:29490904 | TAAAAAAA others(4): Show |
T | 2 | a0001c0004t0002g0015 a0003c0008t0002g0018 |
2 | HG01981.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.545+552_545+562del others(11): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 5/7 | chr16 | 29490904 | |||||||
| chr16:29491098 | C | G | 1 | a0001c0001t0002g0020 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.545+369G>C | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 5/7 | chr16 | 29491098 | |||||||
| chr16:29491205 | G | GA | 3 | a0001c0001t0002g0020 a0001c0004t0002g0015 a0003c0008t0002g0018 |
3 | HG00741.hp1 HG01981.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.545+261dupT | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 5/7 | chr16 | 29491205 | |||||||
| chr16:29492122 | C | G | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.250-248G>C | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 3/7 | chr16 | 29492122 | |||||||
| chr16:29492317 | C | T | 1 | a0001c0001t0001g0007 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.250-443G>A | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 3/7 | chr16 | 29492317 | |||||||
| chr16:29492427 | C | G | 1 | a0001c0001t0002g0020 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.250-553G>C | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 3/7 | chr16 | 29492427 | |||||||
| chr16:29493311 | G | A | 1 | a0001c0001t0002g0019 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.250-1437C>T | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 3/7 | chr16 | 29493311 | |||||||
| chr16:29493352 | C | T | 1 | a0001c0001t0002g0017 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.250-1478G>A | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 3/7 | chr16 | 29493352 | |||||||
| chr16:29493647 | C | T | 1 | a0001c0002t0001g0002 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.250-1773G>A | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 3/7 | chr16 | 29493647 | |||||||
| chr16:29494156 | A | G | 1 | a0002c0003t0001g0010 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.249+1323T>C | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 3/7 | chr16 | 29494156 | |||||||
| chr16:29494313 | A | G | 1 | a0001c0001t0002g0017 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.249+1166T>C | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 3/7 | chr16 | 29494313 | |||||||
| chr16:29494798 | C | T | 1 | a0001c0001t0002g0021 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.249+681G>A | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 3/7 | chr16 | 29494798 | |||||||
| chr16:29495290 | A | C | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.249+189T>G | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 3/7 | chr16 | 29495290 | |||||||
| chr16:29496446 | G | T | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.121-839C>A | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29496446 | |||||||
| chr16:29496841 | C | T | 1 | a0001c0001t0002g0021 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.121-1234G>A | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29496841 | |||||||
| chr16:29496857 | C | T | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.121-1250G>A | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29496857 | |||||||
| chr16:29497513 | C | CA | 3 | a0001c0001t0002g0020 a0001c0009t0003g0005 a0002c0003t0001g0010 |
3 | HG00741.hp1 HG01978.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.121-1907dupT | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29497513 | |||||||
| chr16:29497661 | C | G | 13 | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0002t0001g0001 others(10): Show |
13 | HG00140.hp2 HG01346.hp1 HG01978.hp1 others(10): Show |
intron_variant | MODIFIER | c.121-2054G>C | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29497661 | |||||||
| chr16:29498191 | T | C | 1 | a0002c0003t0001g0011 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.121-2584A>G | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29498191 | |||||||
| chr16:29498219 | G | A | 1 | a0001c0001t0002g0021 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.121-2612C>T | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29498219 | |||||||
| chr16:29498299 | AAAAT | A | 2 | a0001c0009t0003g0005 a0002c0003t0001g0011 |
2 | HG01978.hp2 NA18982.hp2 |
intron_variant | MODIFIER | c.121-2696_121-2693d others(6): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29498299 | |||||||
| chr16:29498600 | G | C | 1 | a0002c0003t0001g0010 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.121-2993C>G | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29498600 | |||||||
| chr16:29498704 | C | CA | 4 | a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 others(1): Show |
4 | HG00741.hp1 HG00741.hp2 HG01346.hp2 others(1): Show |
intron_variant | MODIFIER | c.121-3098dupT | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29498704 | |||||||
| chr16:29499224 | T | C | 2 | a0001c0009t0003g0005 a0002c0003t0001g0011 |
2 | HG01978.hp2 NA18982.hp2 |
intron_variant | MODIFIER | c.121-3617A>G | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29499224 | |||||||
| chr16:29499531 | G | A | 1 | a0004c0010t0001g0012 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.121-3924C>T | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29499531 | |||||||
| chr16:29499615 | A | G | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.121-4008T>C | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29499615 | |||||||
| chr16:29500992 | C | G | 1 | a0001c0001t0001g0013 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.120+4481G>C | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29500992 | |||||||
| chr16:29501015 | A | G | 1 | a0001c0001t0001g0013 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.120+4458T>C | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29501015 | |||||||
| chr16:29501027 | T | A | 1 | a0001c0001t0001g0013 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.120+4446A>T | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29501027 | |||||||
| chr16:29501425 | C | T | 1 | a0001c0004t0002g0014 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.120+4048G>A | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29501425 | |||||||
| chr16:29501860 | CA | C | 11 | a0001c0001t0001g0007 a0001c0002t0001g0002 a0001c0002t0001g0003 others(8): Show |
11 | HG00140.hp2 HG01978.hp1 HG01978.hp2 others(8): Show |
intron_variant | MODIFIER | c.120+3612delT | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29501860 | |||||||
| chr16:29501964 | A | C | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.120+3509T>G | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29501964 | |||||||
| chr16:29502157 | T | C | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.120+3316A>G | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29502157 | |||||||
| chr16:29502178 | A | C | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.120+3295T>G | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29502178 | |||||||
| chr16:29502184 | A | G | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.120+3289T>C | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29502184 | |||||||
| chr16:29502904 | G | A | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.120+2569C>T | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29502904 | |||||||
| chr16:29504066 | T | C | 13 | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0002t0001g0001 others(10): Show |
13 | HG00140.hp2 HG01346.hp1 HG01978.hp1 others(10): Show |
intron_variant | MODIFIER | c.120+1407A>G | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29504066 | |||||||
| chr16:29504514 | ATG | A | 3 | a0001c0001t0002g0017 a0001c0002t0001g0001 a0001c0009t0003g0005 |
3 | HG00140.hp1 HG01346.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.120+957_120+958del others(2): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29504514 | |||||||
| chr16:29504514 | ATGTG | A | 16 | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0002g0019 others(13): Show |
16 | HG00140.hp2 HG00741.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.120+955_120+958del others(4): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29504514 | |||||||
| chr16:29505203 | G | T | 1 | a0001c0009t0003g0005 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.120+270C>A | NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 2/7 | chr16 | 29505203 |