Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| 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 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 744 | 3 | 1 | 2 | 0 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | MAGRS others(739): Show |
chr17 | 46585669 | 46762464 |
| a0002 | 0/0 | 219 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | MAGRS others(214): Show |
chr17 | 46585669 | 46762464 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 2232 | 3 | 1 | 2 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | ATGGC others(2227): Show |
chr17 | 46585669 | 46762464 | ||
| a0002c0002 | 0/0 | 2230 | 1 | 1 | 0 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | ATGGC others(2225): Show |
chr17 | 46585669 | 46762464 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3983 | 3 | 1 | 2 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | GGCGG others(3978): Show |
chr17 | 46585669 | 46762464 |
| a0002c0002t0001 | 0/0 | 3981 | 1 | 1 | 0 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | GGCGG others(3976): Show |
chr17 | 46585669 | 46762464 |
| actghapid | grch38/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 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| a0002c0002t0001g0005 | 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 | a0002 | c0002 | t0001 | g0005 | AFR | GWD | NSF_chr17_46585669_46762464 | NSF | chr17 | 46585669 | 46762464 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:46640685 | GA | G | 1 | a0002 | 1 | HG02723.hp2 | frameshift_variant | HIGH | c.561delA | p.Ala188fs | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/21 | 668/3983 | 561/2235 | 187/744 | INFO_REALIGN_3_PRIME | chr17 | 46640685 | ||
| chr17:46640694 | G | GA | 1 | a0002 | 1 | HG02723.hp2 | frameshift_variant | HIGH | c.569dupA | p.Asn190fs | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 7/21 | 677/3983 | 570/2235 | 190/744 | INFO_REALIGN_3_PRIME | chr17 | 46640694 | ||
| chr17:46643167 | TG | T | 1 | a0002 | 1 | HG02723.hp2 | frameshift_variant | HIGH | c.656delG | p.Gly219fs | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/21 | 763/3983 | 656/2235 | 219/744 | INFO_REALIGN_3_PRIME | chr17 | 46643167 | ||
| chr17:46643174 | AG | A | 1 | a0002 | 1 | HG02723.hp2 | frameshift_variant | HIGH | c.662delG | p.Gly221fs | NSF | ENSG00000073969.19 | transcript | ENST00000398238.8 | protein_coding | 8/21 | 769/3983 | 662/2235 | 221/744 | INFO_REALIGN_3_PRIME | chr17 | 46643174 |
| 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 |
|---|
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:46591399 | C | G | 1 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0003 a0002c0002t0001g0005 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
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 | a0001c0001t0001g0001 a0002c0002t0001g0005 |
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 | a0001c0001t0001g0003 a0002c0002t0001g0005 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0003 a0002c0002t0001g0005 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0002c0002t0001g0005 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0002c0002t0001g0005 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0003 a0002c0002t0001g0005 |
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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0001 a0002c0002t0001g0005 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0001 a0002c0002t0001g0005 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0002c0002t0001g0005 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 |
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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(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 | a0002c0002t0001g0005 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0005 |
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 |