Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 150094 |
|---|---|
| ensemblid | ENSG00000142178.9 |
| hgncid | 11142 |
| symbol | SIK1 |
| name | salt inducible kinase 1 |
| refseq_nuc | NM_173354.5 |
| refseq_prot | NP_775490.2 |
| ensembl_nuc | ENST00000270162.8 |
| ensembl_prot | ENSP00000270162.6 |
| mane_status | MANE Select |
| chr | chr21 |
| start | 43414483 |
| end | 43427131 |
| strand | - |
| ver | v1.2 |
| region | chr21:43414483-43427131 |
| region5000 | chr21:43409483-43432131 |
| regionname0 | SIK1_chr21_43414483_43427131 |
| regionname5000 | SIK1_chr21_43409483_43432131 |
| 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 | 783 | 19 | 13 | 0 | 0 | 0 | 6 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0002 | 0/0 | 783 | 11 | 9 | 0 | 0 | 0 | 2 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0003 | 0/0 | 783 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0004 | 0/0 | 783 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| 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 | 2352 | 17 | 11 | 0 | 0 | 0 | 6 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| c0002 | 0/0 | 2352 | 9 | 9 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| c0003 | 0/0 | 2352 | 2 | 2 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| c0004 | 0/0 | 2352 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| c0005 | 0/0 | 2352 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| c0006 | 0/0 | 2352 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| c0007 | 0/0 | 2352 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| 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 | 2394 | 8 | 8 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| t0002 | 0/0 | 2396 | 8 | 8 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| t0003 | 0/0 | 2396 | 5 | 1 | 0 | 0 | 0 | 4 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| t0004 | 0/0 | 2391 | 2 | 2 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| t0005 | 0/0 | 2393 | 2 | 0 | 0 | 0 | 0 | 2 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| t0006 | 0/0 | 2398 | 2 | 0 | 0 | 0 | 0 | 2 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| t0007 | 0/0 | 2400 | 2 | 2 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| t0008 | 0/0 | 2396 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| t0009 | 0/0 | 2395 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| t0010 | 0/0 | 2398 | 1 | 1 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| 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 | 6 | 6 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0002 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0003 | 0/0 | 3 | 1 | 0 | 0 | 0 | 2 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0005 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| 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 | 2352 | 17 | 11 | 0 | 0 | 0 | 6 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0001c0003 | 0/0 | 2352 | 2 | 2 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0002c0002 | 0/0 | 2352 | 9 | 9 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0002c0004 | 0/0 | 2352 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0002c0006 | 0/0 | 2352 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0003c0007 | 0/0 | 2352 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0004c0005 | 0/0 | 2352 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 4745 | 8 | 8 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0001c0001t0003 | 0/0 | 4747 | 5 | 1 | 0 | 0 | 0 | 4 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0001c0001t0004 | 0/0 | 4742 | 2 | 2 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0001c0001t0006 | 0/0 | 4749 | 2 | 0 | 0 | 0 | 0 | 2 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0001c0003t0007 | 0/0 | 4751 | 2 | 2 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0002c0002t0002 | 0/0 | 4747 | 8 | 8 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0002c0002t0010 | 0/0 | 4749 | 1 | 1 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0002c0004t0009 | 0/0 | 4746 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0002c0006t0005 | 0/0 | 4744 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0003c0007t0005 | 0/0 | 4744 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| a0004c0005t0008 | 0/0 | 4747 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | copy fasta | chr21 | 43409483 | 43432131 |
| 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 | 5 | 5 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0001c0001t0001g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0001c0001t0003g0003 | 0/0 | 3 | 1 | 0 | 0 | 0 | 2 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0001c0001t0003g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0001c0001t0003g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0001c0001t0004g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0001c0001t0006g0005 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0001c0003t0007g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0002c0002t0002g0001 | 0/0 | 6 | 6 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0002c0002t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0002c0002t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0002c0002t0010g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0002c0004t0009g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0002c0006t0005g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0003c0007t0005g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| a0004c0005t0008g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG02280 | hp1 | a0002 | c0002 | t0002 | g0001 | AFR | ACB | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02280 | hp2 | a0002 | c0002 | t0002 | g0001 | AFR | ACB | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0008 | AFR | ACB | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02451 | hp2 | a0001 | c0003 | t0007 | g0006 | AFR | ACB | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02572 | hp1 | a0002 | c0002 | t0002 | g0001 | AFR | GWD | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02572 | hp2 | a0001 | c0001 | t0004 | g0007 | AFR | GWD | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02717 | hp1 | a0001 | c0001 | t0003 | g0003 | AFR | GWD | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02723 | hp1 | a0002 | c0002 | t0002 | g0001 | AFR | GWD | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02723 | hp2 | a0001 | c0001 | t0004 | g0007 | AFR | GWD | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02735 | hp1 | a0002 | c0006 | t0005 | g0012 | SAS | PJL | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02735 | hp2 | a0002 | c0004 | t0009 | g0011 | SAS | PJL | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | ESN | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02922 | hp2 | a0002 | c0002 | t0002 | g0001 | AFR | ESN | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ESN | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ESN | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ESN | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG03130 | hp2 | a0002 | c0002 | t0002 | g0016 | AFR | ESN | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG03139 | hp1 | a0002 | c0002 | t0002 | g0015 | AFR | ESN | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG03139 | hp2 | a0002 | c0002 | t0010 | g0014 | AFR | ESN | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG03195 | hp1 | a0002 | c0002 | t0002 | g0001 | AFR | ESN | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | ESN | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG03492 | hp1 | a0001 | c0001 | t0006 | g0005 | SAS | PJL | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG03492 | hp2 | a0001 | c0001 | t0003 | g0003 | SAS | PJL | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG03654 | hp1 | a0001 | c0001 | t0006 | g0005 | SAS | PJL | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG03654 | hp2 | a0003 | c0007 | t0005 | g0013 | SAS | PJL | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG04184 | hp1 | a0001 | c0001 | t0003 | g0010 | SAS | BEB | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG04184 | hp2 | a0004 | c0005 | t0008 | g0017 | SAS | BEB | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| NA20905 | hp1 | a0001 | c0001 | t0003 | g0003 | SAS | GIH | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| NA20905 | hp2 | a0001 | c0001 | t0003 | g0009 | SAS | GIH | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| HG02109 | hp2 | a0001 | c0003 | t0007 | g0006 | AFR | ACB | SIK1_chr21_43409483_43432131 | SIK1 | chr21 | 43409483 | 43432131 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:43417675
|
G | A | 3 | a0002a0003a0004 | 13 | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(10): Show |
missense_variant | MODERATE | c.1844C>T | p.Ala615Val | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 13/14 | 1980/4747 | 1844/2352 | 615/783 | chr21 | 43417675 | ||
| chr21:43419072
|
T | C | 1 | a0004 | 1 | HG04184.hp2 | missense_variant | MODERATE | c.1411A>G | p.Arg471Gly | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 11/14 | 1547/4747 | 1411/2352 | 471/783 | chr21 | 43419072 | ||
| chr21:43419188
|
C | A | 1 | a0004 | 1 | HG04184.hp2 | missense_variant | MODERATE | c.1295G>T | p.Arg432Leu | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 11/14 | 1431/4747 | 1295/2352 | 432/783 | chr21 | 43419188 | ||
| chr21:43426109
|
C | A | 1 | a0003 | 1 | HG03654.hp2 | missense_variant | MODERATE | c.70G>T | p.Val24Leu | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 2/14 | 206/4747 | 70/2352 | 24/783 | chr21 | 43426109 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:43417671
|
G | A | 3 | a0002c0004a0002c0006a0003c0007 | 3 | HG02735.hp1 HG02735.hp2 HG03654.hp2 |
synonymous_variant | LOW | c.1848C>T | p.Pro616Pro | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 13/14 | 1984/4747 | 1848/2352 | 616/783 | chr21 | 43417671 | ||
| chr21:43418399
|
C | T | 1 | a0001c0003 | 2 | HG02109.hp2 HG02451.hp2 |
synonymous_variant | LOW | c.1605G>A | p.Pro535Pro | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 12/14 | 1741/4747 | 1605/2352 | 535/783 | chr21 | 43418399 | ||
| chr21:43419073
|
C | T | 1 | a0004c0005 | 1 | HG04184.hp2 | synonymous_variant | LOW | c.1410G>A | p.Arg470Arg | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 11/14 | 1546/4747 | 1410/2352 | 470/783 | chr21 | 43419073 | ||
| chr21:43420258
|
G | A | 2 | a0002c0006a0003c0007 | 2 | HG02735.hp1 HG03654.hp2 |
synonymous_variant | LOW | c.948C>T | p.Gly316Gly | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 8/14 | 1084/4747 | 948/2352 | 316/783 | chr21 | 43420258 | ||
| chr21:43420276
|
A | G | 1 | a0001c0003 | 2 | HG02109.hp2 HG02451.hp2 |
synonymous_variant | LOW | c.930T>C | p.Gly310Gly | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 8/14 | 1066/4747 | 930/2352 | 310/783 | chr21 | 43420276 | ||
| chr21:43420300
|
G | A | 1 | a0001c0003 | 2 | HG02109.hp2 HG02451.hp2 |
synonymous_variant | LOW | c.906C>T | p.Gly302Gly | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 8/14 | 1042/4747 | 906/2352 | 302/783 | chr21 | 43420300 | ||
| chr21:43421065
|
C | T | 1 | a0001c0003 | 2 | HG02109.hp2 HG02451.hp2 |
synonymous_variant | LOW | c.693G>A | p.Thr231Thr | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 7/14 | 829/4747 | 693/2352 | 231/783 | chr21 | 43421065 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:43414924
|
AGGG | A | 3 | a0002c0004t0009a0002c0006t0005a0003c0007t0005 | 3 | HG02735.hp1 HG02735.hp2 HG03654.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1815_*1817delCCC | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 1815 | chr21 | 43414924 | |||||
| chr21:43414945
|
G | A | 3 | a0002c0004t0009a0002c0006t0005a0003c0007t0005 | 3 | HG02735.hp1 HG02735.hp2 HG03654.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1797C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 1797 | chr21 | 43414945 | |||||
| chr21:43415290
|
G | A | 1 | a0001c0003t0007 | 2 | HG02109.hp2 HG02451.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1452C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 1452 | chr21 | 43415290 | |||||
| chr21:43415421
|
G | A | 6 | a0002c0002t0002a0002c0002t0010a0002c0004t0009others(3): Show | 13 | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*1321C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 1321 | chr21 | 43415421 | |||||
| chr21:43415467
|
G | A | 3 | a0002c0002t0002a0002c0002t0010a0004c0005t0008 | 10 | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*1275C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 1275 | chr21 | 43415467 | |||||
| chr21:43415628
|
A | G | 6 | a0002c0002t0002a0002c0002t0010a0002c0004t0009others(3): Show | 13 | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*1114T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 1114 | chr21 | 43415628 | |||||
| chr21:43415708
|
A | C | 1 | a0001c0003t0007 | 2 | HG02109.hp2 HG02451.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1034T>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 1034 | chr21 | 43415708 | |||||
| chr21:43415790
|
A | G | 1 | a0004c0005t0008 | 1 | HG04184.hp2 | 3_prime_UTR_variant | MODIFIER | c.*952T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 952 | chr21 | 43415790 | |||||
| chr21:43415791
|
G | A | 1 | a0004c0005t0008 | 1 | HG04184.hp2 | 3_prime_UTR_variant | MODIFIER | c.*951C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 951 | chr21 | 43415791 | |||||
| chr21:43416338
|
G | GCA | 3 | a0001c0001t0006a0002c0002t0010a0002c0004t0009 | 4 | HG02735.hp2 HG03139.hp2 HG03492.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*402_*403dupTG | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 403 | chr21 | 43416338 | |||||
| chr21:43416338
|
G | GCACA | 1 | a0001c0003t0007 | 2 | HG02109.hp2 HG02451.hp2 |
3_prime_UTR_variant | MODIFIER | c.*400_*403dupTGTG | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 403 | chr21 | 43416338 | |||||
| chr21:43416338
|
GCA | G | 2 | a0001c0001t0001a0001c0001t0004 | 10 | HG02109.hp1 HG02451.hp1 HG02572.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*402_*403delTG | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 402 | chr21 | 43416338 | |||||
| chr21:43416371
|
GACA | G | 1 | a0001c0001t0004 | 2 | HG02572.hp2 HG02723.hp2 |
3_prime_UTR_variant | MODIFIER | c.*368_*370delTGT | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 14/14 | 368 | chr21 | 43416371 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:43417202
|
A | T | 8 | a0002c0002t0002g0001a0002c0002t0002g0015a0002c0002t0002g0016others(5): Show | 13 | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(10): Show |
intron_variant | MODIFIER | c.1977-85T>A | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 13/13 | chr21 | 43417202 | ||||||
| chr21:43417479
|
G | A | 5 | a0002c0002t0002g0001a0002c0002t0002g0015a0002c0002t0002g0016others(2): Show | 10 | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.1976+64C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 13/13 | chr21 | 43417479 | ||||||
| chr21:43417949
|
C | T | 1 | a0003c0007t0005g0013 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1745-175G>A | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 12/13 | chr21 | 43417949 | ||||||
| chr21:43418009
|
C | T | 5 | a0002c0002t0002g0001a0002c0002t0002g0015a0002c0002t0002g0016others(2): Show | 10 | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.1745-235G>A | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 12/13 | chr21 | 43418009 | ||||||
| chr21:43418088
|
G | A | 5 | a0002c0002t0002g0001a0002c0002t0002g0015a0002c0002t0002g0016others(2): Show | 10 | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.1744+172C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 12/13 | chr21 | 43418088 | ||||||
| chr21:43418201
|
A | G | 5 | a0002c0002t0002g0001a0002c0002t0002g0015a0002c0002t0002g0016others(2): Show | 10 | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.1744+59T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 12/13 | chr21 | 43418201 | ||||||
| chr21:43418544
|
G | A | 1 | a0002c0006t0005g0012 | 1 | HG02735.hp1 | splice_region_variant&intron_variant | LOW | c.1463-3C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 11/13 | chr21 | 43418544 | ||||||
| chr21:43418729
|
G | GGGGGGGG others(35): Show |
1 | a0001c0001t0003g0009 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1463-189_1463-188i others(44): Show |
SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 11/13 | chr21 | 43418729 | ||||||
| chr21:43418781
|
C | T | 3 | a0002c0004t0009g0011a0002c0006t0005g0012a0003c0007t0005g0013 | 3 | HG02735.hp1 HG02735.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.1462+240G>A | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 11/13 | chr21 | 43418781 | ||||||
| chr21:43419273
|
A | G | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.1246-36T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 10/13 | chr21 | 43419273 | ||||||
| chr21:43419287
|
G | A | 2 | a0001c0001t0001g0002a0001c0001t0004g0007 | 7 | HG02109.hp1 HG02572.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.1246-50C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 10/13 | chr21 | 43419287 | ||||||
| chr21:43419731
|
C | G | 1 | a0001c0003t0007g0006 | 2 | HG02109.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.1119+128G>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 9/13 | chr21 | 43419731 | ||||||
| chr21:43419774
|
A | G | 11 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(8): Show | 22 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(19): Show |
intron_variant | MODIFIER | c.1119+85T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 9/13 | chr21 | 43419774 | ||||||
| chr21:43420065
|
G | A | 1 | a0001c0003t0007g0006 | 2 | HG02109.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.973-60C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 8/13 | chr21 | 43420065 | ||||||
| chr21:43420502
|
G | C | 11 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(8): Show | 22 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(19): Show |
intron_variant | MODIFIER | c.749-45C>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 7/13 | chr21 | 43420502 | ||||||
| chr21:43420506
|
C | T | 2 | a0002c0002t0010g0014a0004c0005t0008g0017 | 2 | HG03139.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.749-49G>A | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 7/13 | chr21 | 43420506 | ||||||
| chr21:43420787
|
C | T | 1 | a0001c0003t0007g0006 | 2 | HG02109.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.748+223G>A | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 7/13 | chr21 | 43420787 | ||||||
| chr21:43420955
|
A | G | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.748+55T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 7/13 | chr21 | 43420955 | ||||||
| chr21:43421156
|
A | G | 9 | a0001c0003t0007g0006a0002c0002t0002g0001a0002c0002t0002g0015others(6): Show | 15 | HG02109.hp2 HG02280.hp1 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.625-23T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 6/13 | chr21 | 43421156 | ||||||
| chr21:43421172
|
T | C | 11 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(8): Show | 22 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(19): Show |
intron_variant | MODIFIER | c.625-39A>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 6/13 | chr21 | 43421172 | ||||||
| chr21:43421485
|
A | G | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.500-118T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 5/13 | chr21 | 43421485 | ||||||
| chr21:43421539
|
GGACCCTC others(36): Show |
G | 3 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006 | 9 | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.499+56_499+98delTG others(41): Show |
SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 5/13 | chr21 | 43421539 | ||||||
| chr21:43421582
|
A | G | 5 | a0002c0002t0002g0001a0002c0002t0002g0015a0002c0002t0002g0016others(2): Show | 10 | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.499+56T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 5/13 | chr21 | 43421582 | ||||||
| chr21:43421924
|
G | A | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.337+50C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 4/13 | chr21 | 43421924 | ||||||
| chr21:43421939
|
G | C | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.337+35C>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 4/13 | chr21 | 43421939 | ||||||
| chr21:43422065
|
C | T | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.274-28G>A | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43422065 | ||||||
| chr21:43422188
|
TA | T | 3 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006 | 9 | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.274-152delT | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43422188 | ||||||
| chr21:43422346
|
A | C | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.274-309T>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43422346 | ||||||
| chr21:43422550
|
A | C | 1 | a0002c0002t0002g0016 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.274-513T>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43422550 | ||||||
| chr21:43422558
|
C | T | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.274-521G>A | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43422558 | ||||||
| chr21:43422630
|
C | T | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.274-593G>A | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43422630 | ||||||
| chr21:43422674
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006 | 9 | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.274-637G>A | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43422674 | ||||||
| chr21:43422836
|
T | C | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.274-799A>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43422836 | ||||||
| chr21:43423300
|
C | T | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.274-1263G>A | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43423300 | ||||||
| chr21:43423387
|
C | CA | 4 | a0001c0001t0001g0002a0001c0001t0003g0010a0001c0001t0004g0007others(1): Show | 10 | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.274-1351dupT | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43423387 | ||||||
| chr21:43423387
|
CA | C | 5 | a0001c0001t0001g0004a0002c0002t0002g0015a0002c0002t0010g0014others(2): Show | 6 | HG02735.hp1 HG02735.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.274-1351delT | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43423387 | ||||||
| chr21:43423961
|
G | A | 3 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006 | 9 | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.273+1446C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43423961 | ||||||
| chr21:43423972
|
G | GA | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.273+1434dupT | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43423972 | ||||||
| chr21:43424145
|
G | A | 1 | a0001c0003t0007g0006 | 2 | HG02109.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.273+1262C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43424145 | ||||||
| chr21:43424343
|
A | C | 5 | a0002c0002t0002g0001a0002c0002t0002g0015a0002c0002t0002g0016others(2): Show | 10 | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.273+1064T>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43424343 | ||||||
| chr21:43424606
|
G | C | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.273+801C>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43424606 | ||||||
| chr21:43424824
|
G | C | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.273+583C>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43424824 | ||||||
| chr21:43425036
|
A | G | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.273+371T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43425036 | ||||||
| chr21:43425096
|
A | G | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.273+311T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43425096 | ||||||
| chr21:43425119
|
A | AGCAAATT others(1): Show |
8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.273+280_273+287dup others(8): Show |
SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43425119 | ||||||
| chr21:43425307
|
A | C | 1 | a0003c0007t0005g0013 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.273+100T>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43425307 | ||||||
| chr21:43425311
|
G | A | 1 | a0003c0007t0005g0013 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.273+96C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43425311 | ||||||
| chr21:43425374
|
G | A | 3 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006 | 9 | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.273+33C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 3/13 | chr21 | 43425374 | ||||||
| chr21:43425643
|
G | A | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.157-120C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 2/13 | chr21 | 43425643 | ||||||
| chr21:43425850
|
A | G | 1 | a0001c0003t0007g0006 | 2 | HG02109.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.156+173T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 2/13 | chr21 | 43425850 | ||||||
| chr21:43426008
|
A | G | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.156+15T>C | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 2/13 | chr21 | 43426008 | ||||||
| chr21:43426450
|
G | A | 3 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006 | 9 | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14-258C>T | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 1/13 | chr21 | 43426450 | ||||||
| chr21:43426546
|
T | C | 8 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006others(5): Show | 19 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.-14-354A>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 1/13 | chr21 | 43426546 | ||||||
| chr21:43426734
|
A | C | 14 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(11): Show | 29 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(26): Show |
intron_variant | MODIFIER | c.-15+276T>G | SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 1/13 | chr21 | 43426734 | ||||||
| chr21:43426970
|
CCCGCCGC others(2): Show |
C | 5 | a0002c0002t0002g0001a0002c0002t0002g0015a0002c0002t0002g0016others(2): Show | 10 | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.-15+31_-15+39delCA others(7): Show |
SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 1/13 | chr21 | 43426970 |