Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 503614 |
|---|---|
| ensemblid | ENSG00000198129.3 |
| hgncid | 31918 |
| symbol | DEFB107B |
| name | defensin beta 107B |
| refseq_nuc | NM_001040705.2 |
| refseq_prot | NP_001035795.1 |
| ensembl_nuc | ENST00000355602.3 |
| ensembl_prot | ENSP00000347810.2 |
| mane_status | MANE Select |
| chr | chr8 |
| start | 7495911 |
| end | 7509311 |
| strand | + |
| ver | v1.2 |
| region | chr8:7495911-7509311 |
| region5000 | chr8:7490911-7514311 |
| regionname0 | DEFB107B_chr8_7495911_7509311 |
| regionname5000 | DEFB107B_chr8_7490911_7514311 |
| 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 | 70 | 8 | 8 | 0 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | copy fasta | chr8 | 7490911 | 7514311 |
| 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 | 213 | 8 | 8 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | copy fasta | chr8 | 7490911 | 7514311 |
| 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 | 112 | 8 | 8 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | copy fasta | chr8 | 7490911 | 7514311 |
| 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 | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| 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 | 213 | 8 | 8 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | copy fasta | chr8 | 7490911 | 7514311 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 324 | 8 | 8 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | copy fasta | chr8 | 7490911 | 7514311 |
| 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 | 3 | 3 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| a0001c0001t0001g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| a0001c0001t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| a0001c0001t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ESN | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | ESN | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | YRI | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ASW | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ASW | DEFB107B_chr8_7490911_7514311 | DEFB107B | chr8 | 7490911 | 7514311 |
| 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 |
|---|
| 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 |
|---|
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:7496290
|
CT | C | 2 | a0001c0001t0001g0002a0001c0001t0001g0003 | 3 | HG02922.hp1 NA20129.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.70+314delT | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | 7496290 | |||||
| chr8:7496290
|
CTT | C | 1 | a0001c0001t0001g0001 | 3 | HG02922.hp2 HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.70+313_70+314delTT | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | 7496290 | |||||
| chr8:7496368
|
T | C | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+365T>C | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7496368 | ||||||
| chr8:7496501
|
C | T | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.70+498C>T | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7496501 | ||||||
| chr8:7496629
|
GA | G | 2 | a0001c0001t0001g0001a0001c0001t0001g0005 | 4 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.70+644delA | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | 7496629 | |||||
| chr8:7497212
|
G | A | 1 | a0001c0001t0001g0001 | 3 | HG02922.hp2 HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.70+1209G>A | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7497212 | ||||||
| chr8:7497630
|
C | A | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.70+1627C>A | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7497630 | ||||||
| chr8:7497710
|
T | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+1707T>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7497710 | ||||||
| chr8:7497897
|
C | A | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+1894C>A | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7497897 | ||||||
| chr8:7498027
|
C | G | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.70+2024C>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7498027 | ||||||
| chr8:7498303
|
A | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+2300A>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7498303 | ||||||
| chr8:7498329
|
C | T | 1 | a0001c0001t0001g0001 | 3 | HG02922.hp2 HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.70+2326C>T | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7498329 | ||||||
| chr8:7498433
|
G | A | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+2430G>A | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7498433 | ||||||
| chr8:7499070
|
T | A | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.70+3067T>A | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7499070 | ||||||
| chr8:7499240
|
A | G | 1 | a0001c0001t0001g0003 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.70+3237A>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7499240 | ||||||
| chr8:7499643
|
A | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+3640A>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7499643 | ||||||
| chr8:7499769
|
T | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+3766T>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7499769 | ||||||
| chr8:7499942
|
T | C | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+3939T>C | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7499942 | ||||||
| chr8:7500220
|
G | A | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+4217G>A | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7500220 | ||||||
| chr8:7500373
|
G | A | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.70+4370G>A | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7500373 | ||||||
| chr8:7500519
|
A | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+4516A>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7500519 | ||||||
| chr8:7500604
|
A | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+4601A>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7500604 | ||||||
| chr8:7500725
|
G | A | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.70+4722G>A | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7500725 | ||||||
| chr8:7500757
|
G | A | 1 | a0001c0001t0001g0001 | 3 | HG02922.hp2 HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.70+4754G>A | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7500757 | ||||||
| chr8:7500818
|
T | C | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+4815T>C | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7500818 | ||||||
| chr8:7501321
|
A | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+5318A>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7501321 | ||||||
| chr8:7501993
|
T | C | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.70+5990T>C | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7501993 | ||||||
| chr8:7502560
|
A | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.71-6521A>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7502560 | ||||||
| chr8:7502633
|
T | C | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.71-6448T>C | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7502633 | ||||||
| chr8:7502671
|
A | T | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.71-6410A>T | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7502671 | ||||||
| chr8:7503194
|
A | G | 1 | a0001c0001t0001g0003 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.71-5887A>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7503194 | ||||||
| chr8:7503213
|
A | G | 1 | a0001c0001t0001g0001 | 3 | HG02922.hp2 HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.71-5868A>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7503213 | ||||||
| chr8:7503222
|
A | G | 1 | a0001c0001t0001g0001 | 3 | HG02922.hp2 HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.71-5859A>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7503222 | ||||||
| chr8:7503371
|
A | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.71-5710A>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7503371 | ||||||
| chr8:7504393
|
C | G | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.71-4688C>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7504393 | ||||||
| chr8:7504686
|
C | T | 1 | a0001c0001t0001g0004 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.71-4395C>T | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7504686 | ||||||
| chr8:7504733
|
G | T | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.71-4348G>T | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7504733 | ||||||
| chr8:7504911
|
T | C | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.71-4170T>C | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7504911 | ||||||
| chr8:7505513
|
T | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.71-3568T>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7505513 | ||||||
| chr8:7505591
|
G | A | 1 | a0001c0001t0001g0001 | 3 | HG02922.hp2 HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.71-3490G>A | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7505591 | ||||||
| chr8:7506295
|
G | C | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.71-2786G>C | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7506295 | ||||||
| chr8:7506376
|
G | A | 1 | a0001c0001t0001g0001 | 3 | HG02922.hp2 HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.71-2705G>A | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7506376 | ||||||
| chr8:7506418
|
T | C | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.71-2663T>C | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7506418 | ||||||
| chr8:7506651
|
T | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.71-2430T>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7506651 | ||||||
| chr8:7506928
|
C | T | 1 | a0001c0001t0001g0003 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.71-2153C>T | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7506928 | ||||||
| chr8:7506953
|
T | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005 | 5 | HG02922.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.71-2128T>G | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7506953 | ||||||
| chr8:7507070
|
G | A | 1 | a0001c0001t0001g0001 | 3 | HG02922.hp2 HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.71-2011G>A | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7507070 | ||||||
| chr8:7507430
|
G | T | 1 | a0001c0001t0001g0001 | 3 | HG02922.hp2 HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.71-1651G>T | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7507430 | ||||||
| chr8:7508067
|
GTA | G | 5 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(2): Show | 8 | HG02922.hp1 HG02922.hp2 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.71-998_71-997delAT | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | 7508067 | |||||
| chr8:7508108
|
C | T | 1 | a0001c0001t0001g0004 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.71-973C>T | DEFB107B | ENSG00000198129.3 | transcript | ENST00000355602.3 | protein_coding | 1/1 | chr8 | 7508108 |