| geneid | 105180390 |
|---|---|
| ensemblid | ENSG00000286038.2 |
| hgncid | 51509 |
| symbol | SPDYE13 |
| name | speedy/RINGO cell cycle regulator family member E13 |
| refseq_nuc | NM_001382563.2 |
| refseq_prot | NP_001369492.1 |
| ensembl_nuc | ENST00000652175.2 |
| ensembl_prot | ENSP00000498801.1 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 75280790 |
| end | 75289501 |
| strand | + |
| ver | v1.2 |
| region | chr7:75280790-75289501 |
| region5000 | chr7:75275790-75294501 |
| regionname0 | SPDYE13_chr7_75280790_75289501 |
| regionname5000 | SPDYE13_chr7_75275790_75294501 |
| 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 | 265 | 18 | 16 | 0 | 0 | 0 | 2 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| a0002 | 0/0 | 265 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| a0003 | 0/0 | 265 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| 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 | 798 | 18 | 16 | 0 | 0 | 0 | 2 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| c0002 | 0/0 | 798 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| c0003 | 0/0 | 798 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| 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 | 1981 | 15 | 14 | 0 | 0 | 0 | 1 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| t0002 | 0/0 | 1981 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| t0003 | 0/0 | 1981 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| t0004 | 0/0 | 1981 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| t0005 | 0/0 | 1981 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| t0006 | 0/0 | 1981 | 1 | 0 | 0 | 0 | 0 | 1 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| 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 | 3 | 3 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0002 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0003 | 0/0 | 2 | 1 | 0 | 0 | 0 | 1 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| 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 | 798 | 18 | 16 | 0 | 0 | 0 | 2 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| a0002c0003 | 0/0 | 798 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| a0003c0002 | 0/0 | 798 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2778 | 15 | 14 | 0 | 0 | 0 | 1 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| a0001c0001t0002 | 0/0 | 2778 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| a0001c0001t0004 | 0/0 | 2778 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| a0001c0001t0006 | 0/0 | 2778 | 1 | 0 | 0 | 0 | 0 | 1 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| a0002c0003t0005 | 0/0 | 2778 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| a0003c0002t0003 | 0/0 | 2778 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | copy fasta | chr7 | 75275790 | 75294501 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0001c0001t0001g0002 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0001c0001t0001g0003 | 0/0 | 2 | 1 | 0 | 0 | 0 | 1 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0001c0001t0001g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0001c0001t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0001c0001t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0001c0001t0002g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0001c0001t0004g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0001c0001t0006g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0002c0003t0005g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| a0003c0002t0003g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | ACB | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG02572 | hp1 | a0001 | c0001 | t0004 | g0005 | AFR | GWD | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG02738 | hp1 | a0001 | c0001 | t0006 | g0006 | SAS | PJL | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0008 | AFR | GWD | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | MSL | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | MSL | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | MSL | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | MSL | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG03486 | hp2 | a0003 | c0002 | t0003 | g0014 | AFR | MSL | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG03516 | hp1 | a0002 | c0003 | t0005 | g0013 | AFR | ESN | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| HG03516 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | ESN | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0012 | AFR | LWK | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | LWK | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:75281361
|
T | C | 1 | a0003 | 1 | HG03486.hp2 | missense_variant | MODERATE | c.119T>C | p.Leu40Ser | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 1/7 | 572/2778 | 119/798 | 40/265 | chr7 | 75281361 | ||
| chr7:75282494
|
C | T | 1 | a0002 | 1 | HG03516.hp1 | missense_variant | MODERATE | c.257C>T | p.Ala86Val | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 2/7 | 710/2778 | 257/798 | 86/265 | chr7 | 75282494 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:75286726
|
C | T | 1 | a0002c0003 | 1 | HG03516.hp1 | synonymous_variant | LOW | c.525C>T | p.Asp175Asp | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 5/7 | 978/2778 | 525/798 | 175/265 | chr7 | 75286726 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:75281038
|
G | A | 1 | a0001c0001t0002 | 1 | HG03516.hp2 | 5_prime_UTR_variant | MODIFIER | c.-205G>A | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 1/7 | 205 | chr7 | 75281038 | |||||
| chr7:75281089
|
C | T | 1 | a0001c0001t0006 | 1 | HG02738.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-154C>T | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 1/7 | chr7 | 75281089 | ||||||
| chr7:75281094
|
T | C | 6 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | 20 | HG02145.hp1 HG02145.hp2 HG02572.hp1 others(17): Show |
5_prime_UTR_variant | MODIFIER | c.-149T>C | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 1/7 | 149 | chr7 | 75281094 | |||||
| chr7:75288264
|
C | T | 1 | a0002c0003t0005 | 1 | HG03516.hp1 | 3_prime_UTR_variant | MODIFIER | c.*290C>T | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 7/7 | 1143 | chr7 | 75288264 | |||||
| chr7:75288666
|
T | A | 1 | a0003c0002t0003 | 1 | HG03486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*692T>A | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 7/7 | 1545 | chr7 | 75288666 | |||||
| chr7:75288693
|
C | T | 1 | a0001c0001t0004 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*719C>T | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 7/7 | 1572 | chr7 | 75288693 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:75281388
|
A | G | 1 | a0003c0002t0003g0014 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.130+16A>G | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 1/6 | chr7 | 75281388 | ||||||
| chr7:75281709
|
C | A | 6 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(3): Show | 8 | HG02145.hp2 HG02572.hp1 HG02738.hp1 others(5): Show |
intron_variant | MODIFIER | c.130+337C>A | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 1/6 | chr7 | 75281709 | ||||||
| chr7:75281724
|
G | A | 1 | a0003c0002t0003g0014 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.130+352G>A | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 1/6 | chr7 | 75281724 | ||||||
| chr7:75281727
|
G | A | 1 | a0003c0002t0003g0014 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.130+355G>A | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 1/6 | chr7 | 75281727 | ||||||
| chr7:75281727
|
GA | G | 9 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(6): Show | 12 | HG02145.hp2 HG02572.hp1 HG02738.hp1 others(9): Show |
intron_variant | MODIFIER | c.130+368delA | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | 75281727 | |||||
| chr7:75282101
|
CA | C | 9 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(6): Show | 12 | HG02145.hp2 HG02572.hp1 HG02738.hp1 others(9): Show |
intron_variant | MODIFIER | c.131-248delA | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | 75282101 | |||||
| chr7:75282841
|
C | T | 1 | a0002c0003t0005g0013 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.349+255C>T | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 2/6 | chr7 | 75282841 | ||||||
| chr7:75282990
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.349+404G>A | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 2/6 | chr7 | 75282990 | ||||||
| chr7:75283242
|
T | C | 1 | a0003c0002t0003g0014 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.350-377T>C | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 2/6 | chr7 | 75283242 | ||||||
| chr7:75283262
|
A | C | 1 | a0003c0002t0003g0014 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.350-357A>C | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 2/6 | chr7 | 75283262 | ||||||
| chr7:75283301
|
T | G | 1 | a0001c0001t0001g0009 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.350-318T>G | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 2/6 | chr7 | 75283301 | ||||||
| chr7:75283455
|
C | T | 1 | a0002c0003t0005g0013 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.350-164C>T | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 2/6 | chr7 | 75283455 | ||||||
| chr7:75283491
|
T | C | 5 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0002g0001others(2): Show | 7 | HG02145.hp2 HG02572.hp1 HG02738.hp1 others(4): Show |
intron_variant | MODIFIER | c.350-128T>C | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 2/6 | chr7 | 75283491 | ||||||
| chr7:75283791
|
GT | G | 2 | a0001c0001t0001g0004a0001c0001t0001g0008 | 3 | HG02886.hp1 HG03453.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.408+123delT | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | 75283791 | |||||
| chr7:75283813
|
G | GT | 2 | a0001c0001t0001g0003a0001c0001t0001g0004 | 4 | HG02738.hp2 HG03453.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.408+145dupT | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | 75283813 | |||||
| chr7:75283962
|
C | T | 2 | a0001c0001t0004g0005a0001c0001t0006g0006 | 2 | HG02572.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.408+285C>T | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 3/6 | chr7 | 75283962 | ||||||
| chr7:75284158
|
A | G | 11 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(8): Show | 16 | HG02145.hp1 HG02145.hp2 HG02572.hp1 others(13): Show |
intron_variant | MODIFIER | c.408+481A>G | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 3/6 | chr7 | 75284158 | ||||||
| chr7:75284703
|
A | T | 5 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0002g0001others(2): Show | 7 | HG02145.hp2 HG02572.hp1 HG02738.hp1 others(4): Show |
intron_variant | MODIFIER | c.409-202A>T | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 3/6 | chr7 | 75284703 | ||||||
| chr7:75284871
|
C | A | 1 | a0003c0002t0003g0014 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.409-34C>A | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 3/6 | chr7 | 75284871 | ||||||
| chr7:75285129
|
C | CA | 2 | a0001c0001t0001g0003a0001c0001t0004g0005 | 3 | HG02572.hp1 HG02738.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.494+158dupA | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr7 | 75285129 | |||||
| chr7:75285129
|
CA | C | 5 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(2): Show | 8 | HG02145.hp1 HG02886.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.494+158delA | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr7 | 75285129 | |||||
| chr7:75285474
|
C | T | 1 | a0001c0001t0001g0012 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.494+484C>T | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 4/6 | chr7 | 75285474 | ||||||
| chr7:75285720
|
G | A | 1 | a0001c0001t0006g0006 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.494+730G>A | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 4/6 | chr7 | 75285720 | ||||||
| chr7:75285770
|
T | C | 1 | a0001c0001t0006g0006 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.494+780T>C | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 4/6 | chr7 | 75285770 | ||||||
| chr7:75285830
|
T | C | 1 | a0001c0001t0001g0012 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.494+840T>C | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 4/6 | chr7 | 75285830 | ||||||
| chr7:75286034
|
G | GTTATTTA others(9): Show |
1 | a0001c0001t0006g0006 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.495-653_495-638dup others(16): Show |
SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr7 | 75286034 | |||||
| chr7:75286162
|
C | A | 1 | a0001c0001t0001g0008 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.495-534C>A | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 4/6 | chr7 | 75286162 | ||||||
| chr7:75286972
|
A | G | 15 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(12): Show | 20 | HG02145.hp1 HG02145.hp2 HG02572.hp1 others(17): Show |
intron_variant | MODIFIER | c.738+33A>G | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 5/6 | chr7 | 75286972 | ||||||
| chr7:75287362
|
G | A | 2 | a0001c0001t0001g0002a0001c0001t0004g0005 | 4 | HG02572.hp1 HG02886.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.*45+196G>A | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 6/6 | chr7 | 75287362 | ||||||
| chr7:75287425
|
C | T | 1 | a0001c0001t0001g0009 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.*45+259C>T | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 6/6 | chr7 | 75287425 | ||||||
| chr7:75287898
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.*46-122G>A | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 6/6 | chr7 | 75287898 | ||||||
| chr7:75287899
|
G | C | 1 | a0001c0001t0001g0008 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.*46-121G>C | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 6/6 | chr7 | 75287899 | ||||||
| chr7:75287988
|
T | C | 1 | a0001c0001t0001g0010 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.*46-32T>C | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 6/6 | chr7 | 75287988 | ||||||
| chr7:75287990
|
C | G | 1 | a0003c0002t0003g0014 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.*46-30C>G | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 6/6 | chr7 | 75287990 |