Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 4905 |
|---|---|
| ensemblid | ENSG00000073969.19 |
| hgncid | 8016 |
| symbol | NSF |
| name | N-ethylmaleimide sensitive factor, vesicle fusing ATPase |
| refseq_nuc | NM_006178.4 |
| refseq_prot | NP_006169.2 |
| ensembl_nuc | ENST00000398238.8 |
| ensembl_prot | ENSP00000381293.4 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 46590669 |
| end | 46757464 |
| strand | + |
| ver | v1.2 |
| region | chr17:46590669-46757464 |
| region5000 | chr17:46585669-46762464 |
| regionname0 | NSF_chr17_46590669_46757464 |
| regionname5000 | NSF_chr17_46585669_46762464 |
| 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 | 0/1 | 744 | 5 | 2 | 2 | 0 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | copy fasta | chr17 | 46585669 | 46762464 |
| 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 | 0/1 | 2235 | 5 | 2 | 2 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | copy fasta | chr17 | 46585669 | 46762464 |
| 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 | 0/1 | 1749 | 5 | 2 | 2 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | copy fasta | chr17 | 46585669 | 46762464 |
| 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 | 1 | 1 | 0 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| g0003 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| 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 | 0/1 | 2235 | 5 | 2 | 2 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | copy fasta | chr17 | 46585669 | 46762464 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 3983 | 5 | 2 | 2 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | copy fasta | chr17 | 46585669 | 46762464 |
| 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 | 1 | 1 | 0 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| a0001c0001t0001g0003 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | PUR | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0003 | REF | REF | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:46591399
|
C | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+612C>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46591399 | ||||||
| chr17:46591619
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+832T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46591619 | ||||||
| chr17:46591737
|
A | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+950A>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46591737 | ||||||
| chr17:46593133
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.12+2346C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46593133 | ||||||
| chr17:46593649
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+2862A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46593649 | ||||||
| chr17:46593745
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+2958A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46593745 | ||||||
| chr17:46594383
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+3596C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46594383 | ||||||
| chr17:46594627
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+3840A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46594627 | ||||||
| chr17:46596010
|
A | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.12+5223A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46596010 | ||||||
| chr17:46596693
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+5906G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46596693 | ||||||
| chr17:46597788
|
CT | C | 2 | a0001c0001t0001g0002a0001c0001t0001g0003 | 2 | HG01071.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.12+7029delT | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46597788 | |||||
| chr17:46598103
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.12+7316C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46598103 | ||||||
| chr17:46599491
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+8704C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46599491 | ||||||
| chr17:46599736
|
A | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.12+8949A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46599736 | ||||||
| chr17:46599934
|
C | CT | 2 | a0001c0001t0001g0003a0001c0001t0001g0005 | 2 | HG02723.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.12+9164dupT | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46599934 | |||||
| chr17:46600822
|
A | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.12+10035A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46600822 | ||||||
| chr17:46601679
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+10892T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46601679 | ||||||
| chr17:46601924
|
C | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+11137C>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46601924 | ||||||
| chr17:46602048
|
G | T | 2 | a0001c0001t0001g0002a0001c0001t0001g0003 | 2 | HG01071.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.12+11261G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46602048 | ||||||
| chr17:46603448
|
G | A | 1 | a0001c0001t0001g0004 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.12+12661G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46603448 | ||||||
| chr17:46603734
|
T | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.12+12947T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46603734 | ||||||
| chr17:46603746
|
C | T | 1 | a0001c0001t0001g0003 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.12+12959C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46603746 | ||||||
| chr17:46603779
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+12992G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46603779 | ||||||
| chr17:46605124
|
T | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.12+14337T>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46605124 | ||||||
| chr17:46605995
|
CAAAAA | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.12+15238_12+15242d others(7): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46605995 | |||||
| chr17:46605995
|
CAAAAAAA others(9): Show |
C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.12+15227_12+15242d others(18): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46605995 | |||||
| chr17:46606813
|
AAAAT | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.12+16050_12+16053d others(6): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46606813 | |||||
| chr17:46607643
|
T | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.13-16601T>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46607643 | ||||||
| chr17:46607911
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.13-16333T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46607911 | ||||||
| chr17:46608081
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.13-16163T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46608081 | ||||||
| chr17:46608908
|
T | C | 1 | a0001c0001t0001g0004 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.13-15336T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46608908 | ||||||
| chr17:46609154
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.13-15090G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46609154 | ||||||
| chr17:46610041
|
C | CTCTCTT | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.13-14200_13-14199i others(8): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46610041 | |||||
| chr17:46610045
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.13-14199T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46610045 | ||||||
| chr17:46610099
|
T | TTC | 2 | a0001c0001t0001g0002a0001c0001t0001g0003 | 2 | HG01071.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.13-14119_13-14118d others(4): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46610099 | |||||
| chr17:46610099
|
TTC | T | 2 | a0001c0001t0001g0001a0001c0001t0001g0005 | 2 | HG02723.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.13-14119_13-14118d others(4): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46610099 | |||||
| chr17:46610132
|
T | C | 1 | a0001c0001t0001g0004 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.13-14112T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46610132 | ||||||
| chr17:46610919
|
G | T | 2 | a0001c0001t0001g0003a0001c0001t0001g0005 | 2 | HG02723.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.13-13325G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46610919 | ||||||
| chr17:46611341
|
T | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.13-12903T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46611341 | ||||||
| chr17:46611590
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.13-12654T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46611590 | ||||||
| chr17:46613048
|
A | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.13-11196A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46613048 | ||||||
| chr17:46613058
|
A | G | 1 | a0001c0001t0001g0002 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.13-11186A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46613058 | ||||||
| chr17:46613104
|
C | CA | 4 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.13-11125dupA | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46613104 | |||||
| chr17:46613613
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.13-10631C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46613613 | ||||||
| chr17:46614260
|
A | C | 2 | a0001c0001t0001g0003a0001c0001t0001g0005 | 2 | HG02723.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.13-9984A>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46614260 | ||||||
| chr17:46615268
|
T | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.13-8976T>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46615268 | ||||||
| chr17:46615694
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.13-8550G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46615694 | ||||||
| chr17:46615718
|
C | CA | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.13-8512dupA | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46615718 | |||||
| chr17:46615932
|
T | A | 1 | a0001c0001t0001g0004 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.13-8312T>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46615932 | ||||||
| chr17:46615960
|
G | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.13-8284G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46615960 | ||||||
| chr17:46617808
|
G | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.13-6436G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46617808 | ||||||
| chr17:46618109
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.13-6135G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46618109 | ||||||
| chr17:46618422
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.13-5822C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46618422 | ||||||
| chr17:46618645
|
A | T | 2 | a0001c0001t0001g0002a0001c0001t0001g0003 | 2 | HG01071.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.13-5599A>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46618645 | ||||||
| chr17:46618922
|
C | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.13-5322C>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46618922 | ||||||
| chr17:46619770
|
T | TA | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.13-4448dupA | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46619770 | |||||
| chr17:46619974
|
A | G | 1 | a0001c0001t0001g0003 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.13-4270A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46619974 | ||||||
| chr17:46620315
|
CTTT | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.13-3906_13-3904del others(3): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46620315 | |||||
| chr17:46621097
|
CA | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005 | 3 | HG01071.hp1 HG01071.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.13-3126delA | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46621097 | |||||
| chr17:46621412
|
A | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.13-2832A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46621412 | ||||||
| chr17:46622261
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.13-1983G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46622261 | ||||||
| chr17:46623384
|
C | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.13-860C>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46623384 | ||||||
| chr17:46623497
|
GT | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005 | 3 | HG01071.hp1 HG01071.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.13-733delT | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | 46623497 | |||||
| chr17:46623729
|
G | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.13-515G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 1/20 | chr17 | 46623729 | ||||||
| chr17:46625244
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.98+915T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 2/20 | chr17 | 46625244 | ||||||
| chr17:46625558
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.99-1055A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 2/20 | chr17 | 46625558 | ||||||
| chr17:46625621
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.99-992T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 2/20 | chr17 | 46625621 | ||||||
| chr17:46626095
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.99-518A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 2/20 | chr17 | 46626095 | ||||||
| chr17:46626428
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.99-185T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 2/20 | chr17 | 46626428 | ||||||
| chr17:46626867
|
CT | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.198+169delT | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr17 | 46626867 | |||||
| chr17:46627045
|
G | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.198+333G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 3/20 | chr17 | 46627045 | ||||||
| chr17:46627696
|
A | C | 1 | a0001c0001t0001g0001 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.198+984A>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 3/20 | chr17 | 46627696 | ||||||
| chr17:46628151
|
C | CA | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.198+1449dupA | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr17 | 46628151 | |||||
| chr17:46629756
|
T | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.199-655T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 3/20 | chr17 | 46629756 | ||||||
| chr17:46629956
|
G | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.199-455G>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 3/20 | chr17 | 46629956 | ||||||
| chr17:46630681
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.238+231A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | chr17 | 46630681 | ||||||
| chr17:46630977
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.238+527A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | chr17 | 46630977 | ||||||
| chr17:46631061
|
T | TACACACA others(9): Show |
1 | a0001c0001t0001g0003 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.238+641_238+656dup others(16): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr17 | 46631061 | |||||
| chr17:46631413
|
G | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.238+963G>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | chr17 | 46631413 | ||||||
| chr17:46631954
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.238+1504A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | chr17 | 46631954 | ||||||
| chr17:46632124
|
G | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+1674G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | chr17 | 46632124 | ||||||
| chr17:46633129
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.238+2679C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | chr17 | 46633129 | ||||||
| chr17:46633824
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.238+3374T>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | chr17 | 46633824 | ||||||
| chr17:46634537
|
G | T | 1 | a0001c0001t0001g0004 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.239-2839G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | chr17 | 46634537 | ||||||
| chr17:46634605
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.239-2771C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | chr17 | 46634605 | ||||||
| chr17:46634620
|
C | T | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-2756C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | chr17 | 46634620 | ||||||
| chr17:46635697
|
C | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-1679C>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | chr17 | 46635697 | ||||||
| chr17:46635777
|
A | ATGTGTGT others(7): Show |
1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.239-1570_239-1557d others(16): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr17 | 46635777 | |||||
| chr17:46636719
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.239-657T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 4/20 | chr17 | 46636719 | ||||||
| chr17:46639208
|
T | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.406-846T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 5/20 | chr17 | 46639208 | ||||||
| chr17:46640381
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.513+220G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 6/20 | chr17 | 46640381 | ||||||
| chr17:46641665
|
C | G | 1 | a0001c0001t0001g0002 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.589+947C>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/20 | chr17 | 46641665 | ||||||
| chr17:46641712
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.589+994G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/20 | chr17 | 46641712 | ||||||
| chr17:46641713
|
T | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.589+995T>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/20 | chr17 | 46641713 | ||||||
| chr17:46641715
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.589+997A>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/20 | chr17 | 46641715 | ||||||
| chr17:46641939
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.590-1165C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/20 | chr17 | 46641939 | ||||||
| chr17:46642100
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.590-1004A>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/20 | chr17 | 46642100 | ||||||
| chr17:46642101
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.590-1003T>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/20 | chr17 | 46642101 | ||||||
| chr17:46642102
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.590-1002A>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/20 | chr17 | 46642102 | ||||||
| chr17:46642284
|
C | G | 2 | a0001c0001t0001g0003a0001c0001t0001g0005 | 2 | HG02723.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.590-820C>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/20 | chr17 | 46642284 | ||||||
| chr17:46642465
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.590-639A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/20 | chr17 | 46642465 | ||||||
| chr17:46642669
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.590-435A>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/20 | chr17 | 46642669 | ||||||
| chr17:46643084
|
A | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.590-20A>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/20 | chr17 | 46643084 | ||||||
| chr17:46644542
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.745+1283G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46644542 | ||||||
| chr17:46644543
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.745+1284A>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46644543 | ||||||
| chr17:46644566
|
G | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.745+1307G>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46644566 | ||||||
| chr17:46644822
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.745+1563C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46644822 | ||||||
| chr17:46645357
|
A | G | 1 | a0001c0001t0001g0003 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.745+2098A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46645357 | ||||||
| chr17:46646722
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.745+3463C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46646722 | ||||||
| chr17:46653731
|
T | TTG | 2 | a0001c0001t0001g0002a0001c0001t0001g0004 | 2 | HG01071.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.745+10514_745+1051 others(6): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | 46653731 | |||||
| chr17:46653731
|
T | TTGTGTG | 2 | a0001c0001t0001g0001a0001c0001t0001g0005 | 2 | HG02723.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.745+10510_745+1051 others(10): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | 46653731 | |||||
| chr17:46655273
|
G | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.745+12014G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46655273 | ||||||
| chr17:46656956
|
A | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.745+13697A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46656956 | ||||||
| chr17:46657107
|
G | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.745+13848G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46657107 | ||||||
| chr17:46657970
|
A | ATT | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.745+14724_745+1472 others(6): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | 46657970 | |||||
| chr17:46658647
|
C | T | 2 | a0001c0001t0001g0001a0001c0001t0001g0005 | 2 | HG02723.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.745+15388C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46658647 | ||||||
| chr17:46659037
|
A | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.746-15377A>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46659037 | ||||||
| chr17:46659356
|
CCCTT | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.746-15053_746-1505 others(8): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | 46659356 | |||||
| chr17:46660168
|
G | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.746-14246G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46660168 | ||||||
| chr17:46661378
|
T | TTTA | 2 | a0001c0001t0001g0002a0001c0001t0001g0004 | 2 | HG01071.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.746-13006_746-1300 others(7): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | 46661378 | |||||
| chr17:46661627
|
C | T | 2 | a0001c0001t0001g0002a0001c0001t0001g0004 | 2 | HG01071.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.746-12787C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46661627 | ||||||
| chr17:46661672
|
C | T | 2 | a0001c0001t0001g0002a0001c0001t0001g0004 | 2 | HG01071.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.746-12742C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46661672 | ||||||
| chr17:46662073
|
GGTCAGGT others(125): Show |
G | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.746-12202_746-1207 others(4): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | 46662073 | |||||
| chr17:46663723
|
A | C | 1 | a0001c0001t0001g0003 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.746-10691A>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46663723 | ||||||
| chr17:46664789
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.746-9625C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46664789 | ||||||
| chr17:46666045
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.746-8369G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46666045 | ||||||
| chr17:46666283
|
G | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.746-8131G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46666283 | ||||||
| chr17:46668808
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.746-5606C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46668808 | ||||||
| chr17:46670929
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.746-3485C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46670929 | ||||||
| chr17:46672792
|
C | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.746-1622C>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46672792 | ||||||
| chr17:46673416
|
C | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.746-998C>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | chr17 | 46673416 | ||||||
| chr17:46673909
|
GGGTGTGT | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.746-503_746-497del others(7): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | 46673909 | |||||
| chr17:46673909
|
GGGTGTGT others(4): Show |
G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.746-503_746-493del others(11): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | 46673909 | |||||
| chr17:46674753
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.945+140T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46674753 | ||||||
| chr17:46675381
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.945+768A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46675381 | ||||||
| chr17:46675659
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.945+1046C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46675659 | ||||||
| chr17:46675774
|
A | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.945+1161A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46675774 | ||||||
| chr17:46675984
|
A | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.945+1371A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46675984 | ||||||
| chr17:46676016
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.945+1403G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46676016 | ||||||
| chr17:46676277
|
G | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.945+1664G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46676277 | ||||||
| chr17:46676279
|
C | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.945+1666C>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46676279 | ||||||
| chr17:46676461
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.945+1848G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46676461 | ||||||
| chr17:46677204
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.945+2591T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46677204 | ||||||
| chr17:46682250
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.945+7637T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46682250 | ||||||
| chr17:46684605
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.946-8298A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46684605 | ||||||
| chr17:46684785
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.946-8118G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46684785 | ||||||
| chr17:46685223
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.946-7680G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46685223 | ||||||
| chr17:46685548
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.946-7355G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46685548 | ||||||
| chr17:46687409
|
A | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.946-5494A>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46687409 | ||||||
| chr17:46688985
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.946-3918T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46688985 | ||||||
| chr17:46691231
|
T | G | 1 | a0001c0001t0001g0003 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.946-1672T>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46691231 | ||||||
| chr17:46691634
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.946-1269G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46691634 | ||||||
| chr17:46692763
|
A | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.946-140A>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46692763 | ||||||
| chr17:46692804
|
T | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.946-99T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 9/20 | chr17 | 46692804 | ||||||
| chr17:46694200
|
G | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1187-275G>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 11/20 | chr17 | 46694200 | ||||||
| chr17:46694269
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1187-206T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 11/20 | chr17 | 46694269 | ||||||
| chr17:46694396
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1187-79G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 11/20 | chr17 | 46694396 | ||||||
| chr17:46696320
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1374+1658G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 12/20 | chr17 | 46696320 | ||||||
| chr17:46696415
|
T | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1374+1753T>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 12/20 | chr17 | 46696415 | ||||||
| chr17:46696417
|
A | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1374+1755A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 12/20 | chr17 | 46696417 | ||||||
| chr17:46699402
|
GAC | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1374+4765_1374+476 others(6): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr17 | 46699402 | |||||
| chr17:46700539
|
A | ATAAT | 2 | a0001c0001t0001g0002a0001c0001t0001g0004 | 2 | HG01071.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.1375-4218_1375-421 others(8): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr17 | 46700539 | |||||
| chr17:46700583
|
CTTTTTTT others(8): Show |
C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1375-4168_1375-415 others(19): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr17 | 46700583 | |||||
| chr17:46702369
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1375-2390G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 12/20 | chr17 | 46702369 | ||||||
| chr17:46702707
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1375-2052G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 12/20 | chr17 | 46702707 | ||||||
| chr17:46703698
|
A | C | 2 | a0001c0001t0001g0002a0001c0001t0001g0004 | 2 | HG01071.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.1375-1061A>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 12/20 | chr17 | 46703698 | ||||||
| chr17:46703777
|
C | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1375-982C>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 12/20 | chr17 | 46703777 | ||||||
| chr17:46706418
|
C | CA | 4 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1470+1577dupA | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr17 | 46706418 | |||||
| chr17:46708804
|
T | TTA | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1471-2141_1471-214 others(6): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr17 | 46708804 | |||||
| chr17:46708824
|
T | A | 5 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(2): Show | 5 | HG01071.hp1 HG01071.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.1471-2139T>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 13/20 | chr17 | 46708824 | ||||||
| chr17:46708826
|
T | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005 | 3 | HG01071.hp1 HG01071.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.1471-2137T>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 13/20 | chr17 | 46708826 | ||||||
| chr17:46708828
|
T | A | 2 | a0001c0001t0001g0002a0001c0001t0001g0004 | 2 | HG01071.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.1471-2135T>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 13/20 | chr17 | 46708828 | ||||||
| chr17:46708970
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1471-1993T>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 13/20 | chr17 | 46708970 | ||||||
| chr17:46709764
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1471-1199G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 13/20 | chr17 | 46709764 | ||||||
| chr17:46710887
|
G | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1471-76G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 13/20 | chr17 | 46710887 | ||||||
| chr17:46710944
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1471-19G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 13/20 | chr17 | 46710944 | ||||||
| chr17:46711919
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1627+800A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 14/20 | chr17 | 46711919 | ||||||
| chr17:46714277
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1761+291G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46714277 | ||||||
| chr17:46714669
|
T | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1761+683T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46714669 | ||||||
| chr17:46715266
|
C | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1761+1280C>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46715266 | ||||||
| chr17:46715917
|
C | T | 1 | a0001c0001t0001g0003 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1761+1931C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46715917 | ||||||
| chr17:46716240
|
C | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1761+2254C>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46716240 | ||||||
| chr17:46716261
|
C | CT | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1761+2288dupT | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr17 | 46716261 | |||||
| chr17:46717482
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1761+3496G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46717482 | ||||||
| chr17:46717868
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1761+3882A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46717868 | ||||||
| chr17:46719411
|
A | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1761+5425A>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46719411 | ||||||
| chr17:46720454
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1762-6095A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46720454 | ||||||
| chr17:46721850
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1762-4699C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46721850 | ||||||
| chr17:46722680
|
G | A | 2 | a0001c0001t0001g0003a0001c0001t0001g0004 | 2 | HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1762-3869G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46722680 | ||||||
| chr17:46722744
|
G | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1762-3805G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46722744 | ||||||
| chr17:46722755
|
A | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1762-3794A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46722755 | ||||||
| chr17:46723059
|
T | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1762-3490T>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46723059 | ||||||
| chr17:46723580
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1762-2969C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46723580 | ||||||
| chr17:46723974
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1762-2575C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46723974 | ||||||
| chr17:46725408
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1762-1141C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46725408 | ||||||
| chr17:46725409
|
G | A | 1 | a0001c0001t0001g0003 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1762-1140G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 15/20 | chr17 | 46725409 | ||||||
| chr17:46729553
|
TA | T | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1908+622delA | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr17 | 46729553 | |||||
| chr17:46730976
|
C | CA | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1908+2044dupA | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr17 | 46730976 | |||||
| chr17:46730994
|
G | A | 1 | a0001c0001t0001g0003 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1908+2060G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46730994 | ||||||
| chr17:46731530
|
G | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1908+2596G>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46731530 | ||||||
| chr17:46731536
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1908+2602G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46731536 | ||||||
| chr17:46731831
|
A | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1908+2897A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46731831 | ||||||
| chr17:46733528
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1908+4594A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46733528 | ||||||
| chr17:46734431
|
T | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1908+5497T>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46734431 | ||||||
| chr17:46734475
|
C | T | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1908+5541C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46734475 | ||||||
| chr17:46734927
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1908+5993C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46734927 | ||||||
| chr17:46735803
|
G | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1908+6869G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46735803 | ||||||
| chr17:46736766
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1908+7832T>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46736766 | ||||||
| chr17:46737518
|
T | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1908+8584T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46737518 | ||||||
| chr17:46737908
|
ATATTATT others(11): Show |
A | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1908+9001_1908+901 others(22): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr17 | 46737908 | |||||
| chr17:46738377
|
A | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1908+9443A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46738377 | ||||||
| chr17:46738766
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1908+9832G>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46738766 | ||||||
| chr17:46739370
|
C | CA | 3 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.1909-10381dupA | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr17 | 46739370 | |||||
| chr17:46740910
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1909-8863T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46740910 | ||||||
| chr17:46741770
|
T | TTTG | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1909-7991_1909-798 others(7): Show |
NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr17 | 46741770 | |||||
| chr17:46741956
|
G | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1909-7817G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46741956 | ||||||
| chr17:46742153
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1909-7620A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46742153 | ||||||
| chr17:46742229
|
T | G | 1 | a0001c0001t0001g0003 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1909-7544T>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46742229 | ||||||
| chr17:46742756
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1909-7017G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46742756 | ||||||
| chr17:46743059
|
T | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1909-6714T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46743059 | ||||||
| chr17:46745042
|
CT | C | 5 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(2): Show | 5 | HG01071.hp1 HG01071.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.1909-4721delT | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr17 | 46745042 | |||||
| chr17:46745354
|
G | A | 1 | a0001c0001t0001g0002 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.1909-4419G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 17/20 | chr17 | 46745354 | ||||||
| chr17:46750437
|
G | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.2043+530G>A | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 18/20 | chr17 | 46750437 | ||||||
| chr17:46751926
|
A | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.2157+310A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 19/20 | chr17 | 46751926 | ||||||
| chr17:46752982
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.2157+1366C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 19/20 | chr17 | 46752982 | ||||||
| chr17:46753048
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2157+1432T>C | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 19/20 | chr17 | 46753048 | ||||||
| chr17:46753060
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2157+1444C>T | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 19/20 | chr17 | 46753060 | ||||||
| chr17:46754149
|
C | CT | 4 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | HG01071.hp1 HG01071.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.2158-1146dupT | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr17 | 46754149 | |||||
| chr17:46754566
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2158-748A>G | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 19/20 | chr17 | 46754566 | ||||||
| chr17:46755722
|
AT | A | 3 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005 | 3 | HG01071.hp1 HG02723.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.2214-61delT | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr17 | 46755722 |