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Annotations "error" #2

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Char-Al opened this issue Aug 23, 2021 · 2 comments
Closed

Annotations "error" #2

Char-Al opened this issue Aug 23, 2021 · 2 comments
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@Char-Al
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Char-Al commented Aug 23, 2021

VEP doesn't annotate correctly all HGVSg positions...

Example :

chr19	21299774	rs36125838;rs57999210	T	TATA	2744.03	PASS	AC=2;AF=1;AN=2;DB;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.96;POLYX=2;QD=30.69;SOR=0.826;ANN=AAT|3_prime_UTR_variant|MODIFIER|ZNF714|ENSG00000160352|Transcript|ENST00000291770.7|protein_coding|5/5||ENST00000291770.7:c.*116_*117insAAT||559-560/2063||||||||1||insertion|HGNC|27124|||||ENSP00000291770|||UPI0002A47169||||Ensembl||||||ENST00000600692||2|chr19:g.21299776_21299777insAAT|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|upstream_gene_variant|MODIFIER|AC010620.1|ENSG00000256240|Transcript|ENST00000456283.2|pseudogene||||||||||||1546|1||insertion|Clone_based_ensembl_gene||YES|||||||||||Ensembl||||||ENST00000600692|||chr19:g.21299776_21299777insAAT|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|intron_variant|MODIFIER|ZNF714|ENSG00000160352|Transcript|ENST00000596053.1|protein_coding||4/4|ENST00000596053.1:c.140-7988_140-7987insAAT||||||||||1||insertion|HGNC|27124|||||ENSP00000469616||M0QY60_HUMAN|UPI0002A47374||||Ensembl||||||ENST00000600692||2|chr19:g.21299776_21299777insAAT|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|inframe_insertion|MODERATE|ZNF714|ENSG00000160352|Transcript|ENST00000596143.1|protein_coding|5/5||ENST00000596143.1:c.306_307insAAT|ENSP00000472368.1:p.Tyr102_Glu103insAsn|631-632/6809|306-307/1665|102-103/554|-/N|-/AAT||||1||insertion|HGNC|27124|YES|||CCDS54239.1|ENSP00000472368|ZN714_HUMAN|M0R2G4_HUMAN&M0QYV9_HUMAN|UPI000059D6C5||NM_182515.3||Ensembl||||||ENST00000600692|PANTHER:PTHR24384&PANTHER:PTHR24384:SF104|2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|inframe_insertion|MODERATE|ZNF714|ENSG00000160352|Transcript|ENST00000596367.1|protein_coding|4/4||ENST00000596367.1:c.390_391insAAT|ENSP00000471430.1:p.Tyr130_Glu131insAsn|533-534/644|390-391/501|130-131/167|-/N|-/AAT||||1|cds_end_NF|insertion|HGNC|27124|||||ENSP00000471430||M0R0T4_HUMAN|UPI0002A4772A||||Ensembl||||||ENST00000600692|PANTHER:PTHR24384&PANTHER:PTHR24384:SF118|2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|5_prime_UTR_variant|MODIFIER|ZNF714|ENSG00000160352|Transcript|ENST00000597086.1|protein_coding|3/3||ENST00000597086.1:c.-157_-156insAAT||419-420/646||||||||1|cds_end_NF|insertion|HGNC|27124|||||ENSP00000470107||M0QYV9_HUMAN|UPI0002A47617||||Ensembl||||||ENST00000600692||2|chr19:g.21299776_21299777insAAT|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|5_prime_UTR_variant|MODIFIER|ZNF714|ENSG00000160352|Transcript|ENST00000597424.1|protein_coding|2/2||ENST00000597424.1:c.-157_-156insAAT||332-333/574||||||||1|cds_end_NF|insertion|HGNC|27124|||||ENSP00000472536||M0R2G4_HUMAN&M0QYV9_HUMAN|UPI0002A47433||||Ensembl||||||ENST00000600692||2|chr19:g.21299776_21299777insAAT|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|inframe_insertion&NMD_transcript_variant|MODERATE|ZNF714|ENSG00000160352|Transcript|ENST00000600435.1|nonsense_mediated_decay|5/6||ENST00000600435.1:c.306_307insAAT|ENSP00000468862.1:p.Tyr102_Glu103insAsn|622-623/2668|306-307/1665|102-103/554|-/N|-/AAT||||1||insertion|HGNC|27124||||CCDS54239.1|ENSP00000468862|ZN714_HUMAN|M0R2G4_HUMAN&M0QYV9_HUMAN|UPI000059D6C5||||Ensembl||||||ENST00000600692|PANTHER:PTHR24384&PANTHER:PTHR24384:SF104|2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|ZNF714|ENSG00000160352|Transcript|ENST00000600770.1|nonsense_mediated_decay|6/7||ENST00000600770.1:c.*70_*71insAAT||647-648/2693||||||||1||insertion|HGNC|27124|||||ENSP00000472072||M0QZ91_HUMAN|UPI0002A475E1||||Ensembl||||||ENST00000600692||2|chr19:g.21299776_21299777insAAT|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|3_prime_UTR_variant|MODIFIER|ZNF714|ENSG00000160352|Transcript|ENST00000601416.1|protein_coding|6/6||ENST00000601416.1:c.*70_*71insAAT||647-648/2559||||||||1||insertion|HGNC|27124|||||ENSP00000470378||M0QZ91_HUMAN|UPI0002A475E1||||Ensembl||||||ENST00000600692||2|chr19:g.21299776_21299777insAAT|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|inframe_insertion|MODERATE|ZNF714|148206|Transcript|NM_182515.4|protein_coding|5/5||NM_182515.4:c.309_310insAAT|NP_872321.2:p.Asn103_Glu103insAsn|629-631/8749|307-309/1668|103/555|-/N|-/AAT||||1||insertion|EntrezGene|27124|YES||||NP_872321.2|||||||RefSeq|3|||OK||ENST00000600692||2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|non_coding_transcript_exon_variant|MODIFIER|ZNF714|148206|Transcript|NR_117086.2|misc_RNA|6/7||NR_117086.2:n.647_648insAAT||647-648/2693||||||||1||insertion|EntrezGene|27124||||||||||||RefSeq||||||ENST00000600692||2|chr19:g.21299776_21299777insAAT|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|non_coding_transcript_exon_variant|MODIFIER|ZNF714|148206|Transcript|NR_117087.2|misc_RNA|5/6||NR_117087.2:n.628_629insAAT||628-629/2674||||||||1||insertion|EntrezGene|27124||||||||||||RefSeq||||||ENST00000600692||2|chr19:g.21299776_21299777insAAT|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,AAT|intron_variant&non_coding_transcript_variant|MODIFIER|ZNF714|148206|Transcript|NR_117088.2|misc_RNA||4/4|NR_117088.2:n.462-7988_462-7987insAAT||||||||||1||insertion|EntrezGene|27124||||||||||||RefSeq||||||ENST00000600692||2|chr19:g.21299776_21299777insAAT|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2758,186,0
@Char-Al
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Char-Al commented Sep 29, 2021

see also #3

@Char-Al Char-Al added the bug Something isn't working label Dec 7, 2021
@Char-Al
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Char-Al commented Feb 16, 2022

Fix with 354deb9 & Fix #3

@Char-Al Char-Al closed this as completed Feb 16, 2022
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