Item | Value |
---|---|
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 | 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 | MGQIL others(260): Show |
chr7 | 75275790 | 75294501 |
a0002 | 0/0 | 265 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | MGQIL others(260): Show |
chr7 | 75275790 | 75294501 |
a0003 | 0/0 | 265 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | MGQIL others(260): Show |
chr7 | 75275790 | 75294501 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 795 | 18 | 16 | 0 | 0 | 0 | 2 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | ATGGG others(790): Show |
chr7 | 75275790 | 75294501 | ||
a0002c0002 | 0/0 | 795 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | ATGGG others(790): Show |
chr7 | 75275790 | 75294501 | ||
a0003c0003 | 0/0 | 795 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | ATGGG others(790): Show |
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 | ACTGG others(2773): Show |
chr7 | 75275790 | 75294501 |
a0001c0001t0002 | 0/0 | 2778 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | ACTGG others(2773): Show |
chr7 | 75275790 | 75294501 |
a0001c0001t0004 | 0/0 | 2778 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | ACTGG others(2773): Show |
chr7 | 75275790 | 75294501 |
a0001c0001t0006 | 0/0 | 2778 | 1 | 0 | 0 | 0 | 0 | 1 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | ACTGG others(2773): Show |
chr7 | 75275790 | 75294501 |
a0002c0002t0003 | 0/0 | 2778 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | ACTGG others(2773): Show |
chr7 | 75275790 | 75294501 |
a0003c0003t0005 | 0/0 | 2778 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | ACTGG others(2773): Show |
chr7 | 75275790 | 75294501 |
actghapid | grch38/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 |
a0002c0002t0003g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
a0003c0003t0005g0013 | 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 | a0002 | c0002 | t0003 | g0014 | AFR | MSL | SPDYE13_chr7_75275790_75294501 | SPDYE13 | chr7 | 75275790 | 75294501 |
HG03516 | hp1 | a0003 | 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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:75281361 | T | C | 1 | a0002 | 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 | a0003 | 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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:75286726 | C | T | 1 | a0003c0003 | 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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(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 | a0003c0003t0005 | 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 | a0002c0002t0003 | 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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:75281388 | A | G | 1 | a0002c0002t0003g0014 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(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 | a0002c0002t0003g0014 | 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 | a0002c0002t0003g0014 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0003c0003t0005g0013 | 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 | a0002c0002t0003g0014 | 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 | a0002c0002t0003g0014 | 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 | a0003c0003t0005g0013 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0001 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0008 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0004g0005 a0001c0001t0006g0006 |
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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0001 others(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 | a0002c0002t0003g0014 | 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 | a0001c0001t0001g0003 a0001c0001t0004g0005 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(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 | a0001c0001t0001g0002 a0001c0001t0004g0005 |
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 | a0002c0002t0003g0014 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.*46-30C>G | SPDYE13 | ENSG00000286038.2 | transcript | ENST00000652175.2 | protein_coding | 6/6 | chr7 | 75287990 |