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	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: AIRE (NCBI Gene ID:326)

Gene Summary

Gene Summary

Gene Information	Gene Name: AIRE
	Gene ID: 326
	Gene Symbol	AIRE
	Gene ID	326
	Gene Name	autoimmune regulator
	Synonyms	AIRE1\|APECED\|APS1\|APSI\|PGA1
	Cytomap	21q22.3
	Type of Gene	protein-coding
	Description	autoimmune regulatorautoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein
	Modification date	20200313
	UniProtAcc	O43918

Child GO biological process term(s) under GO:0006412

GO ID	GO term
GO:0006417	Regulation of translation
GO:0006412	Translation

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	AIRE	GO:0006355	regulation of transcription, DNA-templated	18292755
Hgene	AIRE	GO:0045893	positive regulation of transcription, DNA-templated	18292755

Inferred gene age of translation factor.

Gene	Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
AIRE	(355.7 - 733]

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Translation Studies in PubMed

We searched PubMed using 'AIRE[title] AND translation [title] AND human.'

Gene	Title	PMID
AIRE	Regulation of human autoimmune regulator (AIRE) gene translation by miR-220b	23954874

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Exon Skipping Events

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	ORF
ENST00000291582	45709870	45709951	In-frame
ENST00000291582	45712875	45713058	In-frame

Exon skipping position in the amino acid sequence.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	Len(transcript seq)	Exon skip start (mRNA)	Exon Skip end (mRNA)	Len(amino acid seq)	Exon skip start (AA)	Exon Skip end (AA)
ENST00000291582	45709870	45709951	2274	926	1006	545	266	293
ENST00000291582	45712875	45713058	2274	1223	1405	545	365	426

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc	Exon skip start (AA)	Exon Skip end (AA)	Function feature start (AA)	Function feature end (AA)	Functional feature type	Functional feature desc.
O43918	266	293	1	545	Chain	ID=PRO_0000064513;Note=Autoimmune regulator
O43918	365	426	1	545	Chain	ID=PRO_0000064513;Note=Autoimmune regulator
O43918	266	293	181	280	Domain	Note=SAND;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00185
O43918	365	426	414	418	Motif	Note=LXXLL motif 3
O43918	266	293	1	292	Alternative sequence	ID=VSP_004089;Note=In isoform 2%2C isoform 3 and isoform 4. MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLH->MWLVYSSGAPGTQQPARNRVFFPIGMAPGGVCWRPDGWGTGGQGRISGPGSMGAGQRLGSSGTQRCCWGSCFGKEVALRRVLHPS;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9398839;Dbxref=PMID:15489334,PMID:9398839
O43918	266	293	293	293	Alternative sequence	ID=VSP_043529;Note=In isoform 4. Q->PVCMGVSCLCQ;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O43918	365	426	377	545	Alternative sequence	ID=VSP_004090;Note=In isoform 3. VRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS->PRCQGWTPRPCTPYCVWVLRVSRTWLLVRVAGCAEMVRTCCGVLTAPLPSTGAATSQPAPPGPGRACAADPAQET;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9398839;Dbxref=PMID:9398839
O43918	266	293	278	278	Natural variant	ID=VAR_005006;Note=S->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11524731,ECO:0000269\|PubMed:12625412,ECO:0000269\|PubMed:9717837;Dbxref=dbSNP:rs1800520,PMID:11524731,PMID:12625412,PMID:9717837
O43918	365	426	423	426	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LRI

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Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type	Translation factor	FC	adj.pval
LIHC	AIRE	-1.16662412207473	0.0077635583929209

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type	Gene	miRNA	TargetScan binding score (Context++ score percentile)	Coefficient	Pvalue
PAAD	AIRE	hsa-miR-339-5p	59	0.313621500414393	0.00488564209447786
UCEC	AIRE	hsa-miR-339-5p	59	0.351393181597247	0.04156793679747

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
SKCM	AIRE	-0.018615002	0.011730277
BRCA	AIRE	0.038746829	0.015301221

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with AIRE (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
CHOL	IUPHAR	AIRE	SSTR4	0.85700949	5.82E-14
CHOL	TF	AIRE	FOXG1	0.813720937	1.08E-11
KICH	IUPHAR	AIRE	MTNR1A	0.806068453	5.52E-22
TGCT	Cell metabolism gene	AIRE	TUBA1C	0.816609221	1.37E-38
TGCT	Cell metabolism gene	AIRE	DNMT3L	0.845512339	8.22E-44
TGCT	Epifactor	AIRE	DNMT3L	0.845512339	8.22E-44
TGCT	IUPHAR	AIRE	NLRP7	0.821412103	2.17E-39
TGCT	IUPHAR	AIRE	CNR2	0.837221532	3.29E-42

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
LIHC	AIRE	HIST2H3D	-1.6469663861826	0.000105676162025465
LUAD	AIRE	EGLN1	-2.65309173436731	0.000196037010693706
BRCA	AIRE	EGLN2	-1.67404383634543	0.000205593414184969
LUAD	AIRE	HIST2H3D	-2.47939831534539	0.000215212723181527
BRCA	AIRE	H3F3B	-4.28806700316123	0.000922123276107991
HNSC	AIRE	HIST2H3D	-2.48834705335374	0.00105303513239205
KIRC	AIRE	HIST1H3A	1.10420242911219	0.00106771603793869
LUSC	AIRE	HIST1H3A	-3.75704179006149	0.00120169103909262
CHOL	AIRE	H3F3B	-1.68612900454244	0.00390625
ESCA	AIRE	HIST1H3J	-8.34047146845899	0.00592153702414871
HNSC	AIRE	EGLN2	-1.88594337168308	0.00965754519575058
BRCA	AIRE	HIST1H3A	-1.42895266750318	0.01476561810832
BLCA	AIRE	EGLN1	1.35693578523226	0.0159721374511719
CHOL	AIRE	PIAS1	-1.6913476757124	0.02734375
BLCA	AIRE	HIST1H3J	-3.80927682788446	0.0383005285343547
KIRP	AIRE	PIAS1	1.43401820625875	0.0453950124792755
KICH	AIRE	HIST2H3D	-2.50324559613951	0.0476580762532988
THCA	AIRE	PIAS1	-4.29424773114853	1.02220761620756e-06
LUAD	AIRE	HIST1H3J	-3.39312526463371	1.73079036756933e-07
LIHC	AIRE	HIST1H3J	-1.49657637299165	1.76741562992507e-05
LUSC	AIRE	EGLN1	-3.71931447213318	2.622390634108e-05
BRCA	AIRE	HIST2H3D	-1.7662332512658	2.89488144310427e-07
KIRC	AIRE	CREBBP	-3.42084698028054	3.09064599066465e-05
LUAD	AIRE	EGLN2	-6.89316819928408	3.8171822568541e-09
LUSC	AIRE	PIAS1	-1.38084437868915	4.67341425238672e-06
PRAD	AIRE	HIST1H3J	-2.11378862816276	6.75330797887322e-06
LUAD	AIRE	H3F3B	-5.30654892846354	6.90409396394562e-05

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with AIRE

CREBBP, AIRE, MYBBP1A, NOP56, DDX5, DDX17, RUVBL2, TOP2A, PRKDC, SSRP1, PARP1, POLR2A, PCNA, POLR2B, MCM2, MCM5, MCM6, MSH6, HIST1H2AC, HIST1H2BO, MSH2, NASP, RAD21, SMC1A, SMC3, CHD6, TRIM28, LMNB1, KPNB1, XPO1, IPO7, XPOT, RANBP2, RANBP9, NUP93, SRSF3, SRSF1, PABPC1, SRSF2, SNRPD3, EFTUD2, SNRPB, GEMIN5, HSPA5, HSPA4, HIST1H3A, HIST2H2BE, UBAC1, DAXX, HDAC1, HDAC2, HIST3H3, ATP4A, HSPA8, RAVER1, TUBA1C, HSPA1A, HSPA1L, UBB, TUBB, TUBB4B, HSP90AB1, TMPRSS13, GIGYF2, EIF4EBP3, CCDC87, SRRM2, FAT1, GCN1L1, TMPO, HNRNPH1, FBXO3, HNRNPF, SF3B3, TARDBP, LANCL2, ATR, CUL1, RBX1, CCNT1, GDPD3, CTSH, SDR9C7, CPA4, ACPP, ALOX12B, GM2A, CREG1, ASAH1, TGM1, S100A9, S100A7, DDX58, SERPINB3,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
AIRE	chr21	45705232	G	GCCC	Insertion	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1
AIRE	chr21	45705232	G	GCCGTA	Duplication	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1
AIRE	chr21	45705486	G	C	single_nucleotide_variant	Benign	not_provided
AIRE	chr21	45705660	T	C	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided
AIRE	chr21	45705813	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
AIRE	chr21	45705849	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
AIRE	chr21	45705860	GCCCCAGCCCCGGGTCCCCGCGCCCA	G	Deletion	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001582\|initiatior_codon_variant,SO:0001589\|frameshift_variant	SO:0001582\|initiatior_codon_variant,SO:0001589\|frameshift_variant
AIRE	chr21	45705868	CCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACG	C	Deletion	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001582\|initiatior_codon_variant,SO:0001589\|frameshift_variant	SO:0001582\|initiatior_codon_variant,SO:0001589\|frameshift_variant
AIRE	chr21	45705886	C	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
AIRE	chr21	45705890	A	G	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|Inherited_Immunodeficiency_Diseases	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
AIRE	chr21	45705890	A	T	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
AIRE	chr21	45705899	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705901	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45705905	GCGCTA	G	Deletion	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45705907	G	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45705909	T	TACGCCGGCTTCTGAGGCTGCACC	Duplication	Pathogenic/Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45705910	A	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45705911	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705914	C	T	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705915	G	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705923	A	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705931	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45705932	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705933	G	A	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705933	G	GCACGGAGATCGCGGTGGC	Duplication	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
AIRE	chr21	45705933	G	T	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705936	C	T	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705937	G	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45705940	G	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705944	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705946	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45705951	C	T	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705952	C	T	single_nucleotide_variant	Benign/Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45705962	G	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705967	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45705972	T	C	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705975	T	C	single_nucleotide_variant	not_provided	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45705979	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45705985	G	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45705988	T	C	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45705997	C	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706002	TC	T	Deletion	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45706003	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706006	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706006	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706022	GTG	CT	Indel	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45706029	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45706038	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45706349	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45706432	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45706444	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706445	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706447	TTCA	T	Deletion	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
AIRE	chr21	45706463	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706464	G	T	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45706466	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706473	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706474	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706476	C	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706480	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706484	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706487	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706490	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706506	CTGA	TGG	Indel	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45706511	C	CCAGG	Duplication	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45706533	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706537	T	C	single_nucleotide_variant	not_provided	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706539	T	A	single_nucleotide_variant	not_provided	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706539	T	C	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706540	G	A	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45706545	G	T	single_nucleotide_variant	not_provided	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706546	T	G	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706554	A	G	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706556	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706561	A	G	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706562	C	A	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45706566	CT	C	Deletion	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45706567	T	C	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706573	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706575	T	C	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706576	A	G	single_nucleotide_variant	not_provided	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706581	C	T	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706583	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706585	T	G	single_nucleotide_variant	not_provided	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706601	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706616	T	G	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45706623	TG	AT	Indel	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45706738	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45706872	AGC	TG	Indel	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45706875	C	T	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45706877	GC	G	Deletion	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45706881	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706895	G	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706895	GC	G	Deletion	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45706900	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706901	G	A	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706901	G	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706904	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706905	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706906	T	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706907	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706907	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706907	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706924	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45706925	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706937	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706940	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706943	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706955	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706968	C	T	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45706976	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706979	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45706997	A	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45707000	G	A	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45707006	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45707007	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45707010	A	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45707010	AG	C	Indel	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45707012	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45707016	G	A	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45707018	T	C	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45707021	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45707393	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45707394	A	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45707398	A	T	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
AIRE	chr21	45707404	T	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45707405	C	T	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45707409	T	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45707414	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45707417	A	T	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45707419	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45707419	G	GC	Duplication	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45707419	GC	G	Deletion	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45707421	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45707433	C	T	single_nucleotide_variant	Benign/Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45707434	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45707435	G	GAGAGCAGCGC	Duplication	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45707437	G	GAGCAGCGCAGAGC	Duplication	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45707443	C	CGCAGA	Duplication	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45707443	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45707446	A	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45707453	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45707456	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45707457	G	A	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45707463	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45707467	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45707470	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45707474	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45707477	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45707480	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45707481	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45707515	CA	C	Deletion	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45707525	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45707976	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45708021	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45708228	GG	AT	Indel	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45708229	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45708234	A	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45708237	C	A	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45708249	C	G	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45708249	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45708253	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45708270	T	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45708277	C	T	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45708278	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45708279	G	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45708283	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45708284	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45708288	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45708289	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45708296	C	T	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45708304	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45708304	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45708313	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45708316	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45708326	C	T	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45708329	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45708342	G	T	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45708343	T	C	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45708348	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45708355	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45708356	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45709238	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45709339	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45709395	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45709530	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45709531	T	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45709535	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45709541	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709541	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709542	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709544	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709546	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709568	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709568	C	T	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709569	G	T	single_nucleotide_variant	Pathogenic	Autoimmune_polyglandular_syndrome_type_1,_autosomal_dominant	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709592	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709595	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709603	C	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709604	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709604	C	T	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709605	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709614	A	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709628	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709633	GC	G	Deletion	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45709635	A	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709640	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709642	C	T	single_nucleotide_variant	Benign/Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709643	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709643	G	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709646	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709653	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709656	C	T	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45709660	C	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709661	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709670	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709671	C	T	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45709672	A	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709675	GC	G	Deletion	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|Autoimmune_polyglandular_syndrome_type_1,_with_reversible_metaphyseal_dysplasia	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45709676	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709681	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709685	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709685	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709686	G	A	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45709686	G	C	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45709686	G	T	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45709690	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45709854	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45709864	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45709867	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45709879	TGA	T	Deletion	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45709888	G	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709889	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709891	G	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709893	GC	G	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45709897	G	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709900	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709906	C	G	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709906	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709912	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709913	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709915	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709922	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709927	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45709932	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709944	T	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45709959	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45710052	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45710107	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45710410	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45710527	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45710528	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45710681	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45710960	G	A	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45710971	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45710978	A	T	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45710980	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45710982	A	G	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45710987	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45710989	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45710990	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45710997	C	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45710998	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45710999	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45711001	G	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45711006	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45711010	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45711014	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45711023	A	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45711025	C	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45711028	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45711028	CT	C	Deletion	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45711030	G	A	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45711034	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45711045	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45711054	AC	A	Deletion	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45711062	TGCCTGTCCCCTCC	T	Deletion	Pathogenic/Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|Autoimmune_polyglandular_syndrome_type_1,_with_reversible_metaphyseal_dysplasia\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45711073	TC	T	Deletion	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45711075	C	A	single_nucleotide_variant	not_provided	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45711075	C	T	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45711076	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45711080	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45711081	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45711085	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45711091	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45711096	GAG	TAT	Indel	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45711202	A	G	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45711232	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712178	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712178	C	T	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712181	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712189	AC	A	Deletion	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45712197	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712203	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712204	A	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712220	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712224	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712224	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712234	C	CAGCCCCGGGCAGAGG	Duplication	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
AIRE	chr21	45712234	CAGCCCCGGGCAGAGG	C	Deletion	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
AIRE	chr21	45712237	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712238	C	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712242	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712246	GAGGAGCCCCGGCCCC	G	Deletion	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
AIRE	chr21	45712251	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712251	G	GC	Duplication	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45712252	C	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712252	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712254	C	T	single_nucleotide_variant	Benign/Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712255	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712256	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712258	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712262	AGGAGCCACCCGT	A	Deletion	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
AIRE	chr21	45712263	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712270	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712272	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712272	C	T	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712272	CG	C	Deletion	Pathogenic/Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45712273	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712273	G	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712280	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712283	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712285	G	A	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45712286	T	C	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45712286	TATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC	T	Deletion	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712289	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712290	G	A	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712291	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712294	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712294	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712357	AC	A	Deletion	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712588	G	A	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712867	G	C	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45712875	G	A	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
AIRE	chr21	45712877	T	TC	Duplication	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45712878	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712882	C	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712883	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712884	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712887	G	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712895	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712895	CGG	C	Deletion	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45712896	G	A	single_nucleotide_variant	Benign/Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712898	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712899	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712905	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712924	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712926	G	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712929	A	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712931	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712932	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712933	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712938	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712938	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712941	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712943	T	TA	Insertion	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45712948	A	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712949	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712950	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712959	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712959	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712961	A	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712962	C	A	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45712962	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712971	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712971	G	GCCGGC	Duplication	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45712971	GC	G	Deletion	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45712973	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712974	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712976	CT	AC	Indel	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712977	T	C	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712979	C	T	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712980	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712982	CTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGG	C	Deletion	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45712983	T	C	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712986	T	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45712987	G	A	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712987	G	GCAGCC	Duplication	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45712994	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45712994	CG	T	Indel	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45712995	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713003	G	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713005	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713013	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713015	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713016	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713023	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713024	A	AC	Duplication	Pathogenic/Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45713024	A	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713026	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713028	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713028	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713029	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713036	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713036	G	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713037	T	A	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45713043	TC	T	Deletion	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45713051	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713053	C	T	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45713057	AG	A	Deletion	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45713059	G	A	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45713064	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45713065	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45713068	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45713337	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45713654	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45713664	T	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45713670	A	G	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
AIRE	chr21	45713675	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713682	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713688	C	CA	Insertion	Pathogenic/Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45713689	G	A	single_nucleotide_variant	Benign/Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713695	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713696	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713704	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713715	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713716	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713719	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713720	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713722	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713726	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713727	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713729	T	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713731	T	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713737	C	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713737	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713738	T	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713740	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713741	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713743	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713746	T	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713747	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713755	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713758	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45713760	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713761	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713763	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713766	A	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713776	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713782	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713784	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713785	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713785	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713787	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713789	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713791	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45713792	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713792	G	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45713797	A	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45713800	G	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45713802	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45713803	C	T	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45713876	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714020	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714256	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714256	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714273	C	T	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714277	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714279	T	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714286	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45714287	G	A	single_nucleotide_variant	Benign/Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714287	G	C	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714294	C	T	single_nucleotide_variant	Benign/Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45714301	G	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45714305	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714317	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714320	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714323	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714326	A	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714333	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45714335	G	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714337	A	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45714339	G	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45714341	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714348	G	GC	Duplication	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45714350	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714356	CCCCG	C	Microsatellite	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45714359	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714359	C	T	single_nucleotide_variant	Benign/Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714360	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45714363	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45714364	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45714364	G	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45714366	C	T	single_nucleotide_variant	Benign/Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714369	GC	G	Deletion	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45714374	T	C	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714376	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45714380	T	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45714387	G	T	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45714393	G	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714394	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714395	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714396	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714520	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714520	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45714622	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45715448	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45715991	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45716135	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45716199	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45716211	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45716262	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45716267	A	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45716269	G	A	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45716274	TG	T	Deletion	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45716278	A	G	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45716283	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45716287	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45716289	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45716311	G	T	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45716325	C	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45716325	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45716329	G	GT	Duplication	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45716330	T	A	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
AIRE	chr21	45716334	GC	G	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45716335	C	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45716336	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45716337	T	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45716532	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45716539	G	GC	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45716548	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45717247	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45717412	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45717521	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45717534	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
AIRE	chr21	45717537	A	G	single_nucleotide_variant	Pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
AIRE	chr21	45717538	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
AIRE	chr21	45717547	C	T	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45717550	T	C	single_nucleotide_variant	Benign	Polyglandular_autoimmune_syndrome,_type_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45717559	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45717560	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001587\|nonsense	SO:0001587\|nonsense
AIRE	chr21	45717581	GC	G	Deletion	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
AIRE	chr21	45717584	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45717588	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45717589	G	A	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45717591	C	T	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
AIRE	chr21	45717592	G	A	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45717595	C	G	single_nucleotide_variant	Likely_benign	Polyglandular_autoimmune_syndrome,_type_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
AIRE	chr21	45717609	G	C	single_nucleotide_variant	Uncertain_significance	Polyglandular_autoimmune_syndrome,_type_1	SO:0001578\|stop_lost	SO:0001578\|stop_lost
AIRE	chr21	45717610	A	T	single_nucleotide_variant	Likely_pathogenic	Polyglandular_autoimmune_syndrome,_type_1	SO:0001578\|stop_lost	SO:0001578\|stop_lost
AIRE	chr21	45717689	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene	Cancer type	Chromosome	Start	End	RefSeeq	MutSeq	Mutation type	AAchange	# samples
AIRE	SKCM	chr21	45712900	45712900	G	A	Missense_Mutation	p.G374R	5
AIRE	LUAD	chr21	45711088	45711088	C	A	Silent	p.I330I	5
AIRE	CESC	chr21	45709596	45709596	G	A	Missense_Mutation	p.E237K	5
AIRE	SKCM	chr21	45711070	45711070	C	T	Silent	p.S324S	5
AIRE	PAAD	chr21	45713671	45713671	G	T	Splice_Site		4
AIRE	CESC	chr21	45709596	45709596	G	A	Missense_Mutation		4
AIRE	LIHC	chr21	45707420	45707420	C	-	Frame_Shift_Del	p.P163fs	4
AIRE	LIHC	chr21	45712255	45712255	C	T	Missense_Mutation		3
AIRE	LIHC	chr21	45710937	45710937	A	G	Missense_Mutation		3
AIRE	LIHC	chr21	45712255	45712255	C	T	Missense_Mutation	p.R356W	3
AIRE	SKCM	chr21	45706897	45706897	C	T	Missense_Mutation	p.P115L	3
AIRE	SKCM	chr21	45708297	45708297	G	A	Missense_Mutation	p.R203Q	3
AIRE	LGG	chr21	45713694	45713694	G	A	Missense_Mutation	p.C434Y	3
AIRE	SKCM	chr21	45706903	45706903	C	T	Missense_Mutation	p.A117V	3
AIRE	TGCT	chr21	45716316	45716316	C	T	Silent		2
AIRE	SKCM	chr21	45708302	45708302	G	A	Missense_Mutation	p.A205T	2
AIRE	UCEC	chr21	45708242	45708242	T	C	Missense_Mutation	p.S185P	2
AIRE	PAAD	chr21	45713016	45713016	G	A	Silent	p.S412S	2
AIRE	HNSC	chr21	45708269	45708269	A	T	Missense_Mutation	p.M194L	2
AIRE	SKCM	chr21	45706962	45706962	G	A	Missense_Mutation	p.E137K	2
AIRE	LUAD	chr21	45709916	45709916	C	A	Missense_Mutation	p.P282T	2
AIRE	UCEC	chr21	45708261	45708261	C	T	Missense_Mutation	p.A191V	2
AIRE	SKCM	chr21	45709622	45709622	G	A	Silent	p.K245K	2
AIRE	STAD	chr21	45713760	45713760	G	A	Missense_Mutation	p.R456H	2
AIRE	HNSC	chr21	45708290	45708290	G	A	Missense_Mutation	p.G201R	2
AIRE	UCEC	chr21	45710847	45710847	G	A	Missense_Mutation	p.G53E	2
AIRE	SKCM	chr21	45716284	45716284	G	A	Missense_Mutation	p.E508K	2
AIRE	UCEC	chr21	45712895	45712895	C	T	Missense_Mutation	p.S372L	2
AIRE	STAD	chr21	45711065	45711065	C	A	Missense_Mutation	p.L323M	2
AIRE	UCEC	chr21	45713792	45713792	G	A	Missense_Mutation	p.G467R	2
AIRE	PRAD	chr21	45705988	45705988	T	C	Silent	p.A33A	2
AIRE	STAD	chr21	45713741	45713741	G	A	Missense_Mutation	p.A450T	2
AIRE	UVM	chr21	45712977	45712977	T	C	Silent	p.A399A	2
AIRE	LUAD	chr21	45713696	45713696	G	A	Missense_Mutation	p.G435R	2
AIRE	LIHC	chr21	45710937	45710937	A	G	Missense_Mutation	p.H83R	2
AIRE	BLCA	chr21	45706995	45706995	C	G	Missense_Mutation	p.P148A	2
AIRE	COAD	chr21	45712977	45712977	T	C	Silent	p.A202A	2
AIRE	SKCM	chr21	45706614	45706614	G	A	Splice_Site	p.D103_splice	2
AIRE	SKCM	chr21	45711083	45711083	G	A	Missense_Mutation	p.E329K	2
AIRE	TGCT	chr21	45716314	45716314	T	G	Missense_Mutation		2
AIRE	UCEC	chr21	45706514	45706514	G	T	Missense_Mutation	p.Q69H	2
AIRE	DLBC	chr21	45712983	45712983	T	C	Silent	p.P401P	2
AIRE	SKCM	chr21	45709910	45709910	C	T	Missense_Mutation	p.P280S	2
AIRE	UCEC	chr21	45706579	45706579	G	A	Missense_Mutation	p.G91D	2
AIRE	LIHC	chr21	45708294	45708294	C	-	Frame_Shift_Del	p.A202fs	2
AIRE	TGCT	chr21	45716315	45716315	C	T	Missense_Mutation		2
AIRE	LUAD	chr21	45707006	45707006	C	T	Silent	p.T151T	2
AIRE	SKCM	chr21	45712878	45712878	C	T	Silent	p.L366L	2
AIRE	UCEC	chr21	45707444	45707444	G	A	Missense_Mutation	p.A170T	2
AIRE	ESCA	chr21	45706439	45706439	G	T	Splice_Site	e2-1	1
AIRE	LIHC	chr21	45706896	45706896	C	-	Frame_Shift_Del	p.P116fs	1
AIRE	SKCM	chr21	45706946	45706946	G	A	Silent	p.K131K	1
AIRE	HNSC	chr21	45709685	45709685	C	T	Splice_Site	p.P266_splice	1
AIRE	LUAD	chr21	45708262	45708262	T	A	Silent	p.A191A	1
AIRE	SKCM	chr21	45706459	45706459	A	T	Missense_Mutation	p.E51V	1
AIRE	LUAD	chr21	45712930	45712930	C	G	Missense_Mutation	p.P384A	1
AIRE	CESC	chr21	45711044	45711044	C	T	Missense_Mutation		1
AIRE	LIHC	chr21	45706552	45706552	T	C	Missense_Mutation		1
AIRE	ESCA	chr21	45710820	45710820	G	A	Missense_Mutation		1
AIRE	LIHC	chr21	45710892	45710892	G	-	Frame_Shift_Del	p.W68fs	1
AIRE	SKCM	chr21	45712879	45712879	C	T	Missense_Mutation	p.P367S	1
AIRE	STAD	chr21	45710773	45710773	G	-	Frame_Shift_Del		1
AIRE	TGCT	chr21	45716314	45716314	T	G	Missense_Mutation	p.S518A	1
AIRE	SKCM	chr21	45709924	45709924	C	T	Silent	p.A284A	1
AIRE	ESCA	chr21	45706439	45706439	G	T	Splice_Site		1
AIRE	LIHC	chr21	45706489	45706489	C	-	Frame_Shift_Del	p.A61fs	1
AIRE	PAAD	chr21	45713671	45713671	G	T	Splice_Site	.	1
AIRE	SKCM	chr21	45710980	45710980	G	A	Silent	p.K294K	1
AIRE	TGCT	chr21	45716315	45716315	C	T	Missense_Mutation	p.S518F	1
AIRE	SKCM	chr21	45713771	45713771	C	T	Missense_Mutation	p.P460S	1
AIRE	CESC	chr21	45711044	45711044	C	T	Missense_Mutation	p.R316W	1
AIRE	GBM	chr21	45706905	45706905	G	A	Missense_Mutation	p.V118I	1
AIRE	LIHC	chr21	45706878	45706878	C	-	Frame_Shift_Del	p.P109fs	1
AIRE	PAAD	chr21	45713016	45713016	G	A	Missense_Mutation	p.R178Q	1
AIRE	SKCM	chr21	45706442	45706442	G	A	Silent	p.E45E	1
AIRE	STAD	chr21	45708227	45708227	G	T	Splice_Site	.	1
AIRE	TGCT	chr21	45716316	45716316	C	T	Silent	p.S518S	1
AIRE	BLCA	chr21	45710921	45710921	C	G	Missense_Mutation		1
AIRE	HNSC	chr21	45709685	45709685	C	T	Silent	p.P266P	1
AIRE	LUAD	chr21	45711020	45711020	C	G	Missense_Mutation	p.L308V	1
AIRE	SKCM	chr21	45708281	45708281	G	A	Missense_Mutation	p.D198N	1
AIRE	LIHC	chr21	45707002	45707002	G	T	Missense_Mutation	p.G150V	1
AIRE	GBM	chr21	45706905	45706905	G	A	Missense_Mutation		1
AIRE	LIHC	chr21	45717564	45717564	G	-	Frame_Shift_Del	p.W531fs	1
AIRE	PAAD	chr21	45710997	45710997	C	T	Missense_Mutation	p.A300V	1
AIRE	SKCM	chr21	45706441	45706441	A	T	Splice_Site	p.E45_splice	1
AIRE	SKCM	chr21	45706614	45706614	G	A	Missense_Mutation	p.D103N	1
AIRE	THCA	chr21	45710772	45710772	C	T	Missense_Mutation	p.P28L	1
AIRE	BLCA	chr21	45706995	45706995	C	G	Missense_Mutation		1
AIRE	KIRP	chr21	45710878	45710878	C	T	Silent	p.T63T	1
AIRE	LUAD	chr21	45713743	45713743	C	G	Silent	p.A450A	1
AIRE	SKCM	chr21	45708311	45708311	G	A	Missense_Mutation	p.G208R	1
AIRE	COAD	chr21	45709568	45709568	C	T	Silent	p.G227G	1
AIRE	HNSC	chr21	45706969	45706969	G	C	Missense_Mutation		1
AIRE	LIHC	chr21	45709898	45709898	C	T	Nonsense_Mutation		1
AIRE	SKCM	chr21	45717572	45717572	C	T	Nonsense_Mutation	p.Q534*	1
AIRE	THYM	chr21	45717589	45717589	G	T	Silent		1
AIRE	BLCA	chr21	45706895	45706895	G	A	Silent		1
AIRE	KIRP	chr21	45710878	45710878	C	T	Silent		1
AIRE	LUSC	chr21	45709879	45709879	T	C	Silent	p.G269G	1
AIRE	SKCM	chr21	45710883	45710883	G	A	Missense_Mutation	p.R65K	1
AIRE	COAD	chr21	45710773	45710773	G	-	Frame_Shift_Del	p.P28fs	1
AIRE	LIHC	chr21	45707420	45707420	C	-	Frame_Shift_Del	p.K161fs	1
AIRE	HNSC	chr21	45708269	45708269	A	T	Missense_Mutation		1
AIRE	READ	chr21	45705994	45705994	C	T	Silent	p.H35H	1
AIRE	SKCM	chr21	45706475	45706475	C	T	Silent	p.P56P	1
AIRE	STAD	chr21	45708227	45708227	G	T	Splice_Site	p.G180_splice	1
AIRE	THYM	chr21	45707473	45707473	C	T	Silent	p.N179N	1
AIRE	BLCA	chr21	45710921	45710921	C	G	Missense_Mutation	p.L78V	1
AIRE	KIRP	chr21	45717568	45717568	C	A	Silent		1
AIRE	LUSC	chr21	45706878	45706878	C	A	Missense_Mutation	p.P109T	1
AIRE	SKCM	chr21	45714330	45714330	C	T	Missense_Mutation	p.P483S	1
AIRE	COAD	chr21	45712254	45712254	C	T	Silent	p.P158P	1
AIRE	HNSC	chr21	45709685	45709685	C	T	Silent		1
AIRE	LUAD	chr21	45710773	45710773	G	C	Silent	p.P28P	1
AIRE	SARC	chr21	45708260	45708260	G	T	Missense_Mutation		1
AIRE	SKCM	chr21	45709547	45709547	C	T	Silent	p.S220S	1
AIRE	TGCT	chr21	45709568	45709568	C	T	Silent		1
AIRE	THYM	chr21	45709887	45709887	G	T	Missense_Mutation	p.R272M	1
AIRE	LGG	chr21	45708284	45708284	G	A	Missense_Mutation	p.V199I	1
AIRE	LUSC	chr21	45713059	45713059	G	T	Splice_Site	p.Q426_splice	1
AIRE	SKCM	chr21	45710762	45710762	G	A	Missense_Mutation	p.G25R	1
AIRE	LIHC	chr21	45710905	45710906	-	G	Frame_Shift_Ins	p.E73fs	1
AIRE	HNSC	chr21	45710865	45710865	G	T	Missense_Mutation		1
AIRE	LUAD	chr21	45713743	45713743	C	G	Missense_Mutation	p.P216R	1
AIRE	SARC	chr21	45709905	45709905	G	T	Missense_Mutation		1
AIRE	BLCA	chr21	45706895	45706895	G	A	Silent	p.K114K	1
AIRE	OV	chr21	44537399	44537399	G	T	Silent	p.L397	1
AIRE	SKCM	chr21	45711017	45711017	G	A	Missense_Mutation	p.E307K	1
AIRE	HNSC	chr21	45708290	45708290	G	A	Missense_Mutation		1
AIRE	LUAD	chr21	45709652	45709652	G	T	Silent	p.L255L	1
AIRE	SARC	chr21	45710887	45710887	C	T	Silent		1
AIRE	BRCA	chr21	45712977	45712977	T	C	Silent	p.A399	1
AIRE	LGG	chr21	45713694	45713694	G	A	Missense_Mutation		1
AIRE	ESCA	chr21	45710820	45710820	G	A	Missense_Mutation	p.G44D	1
AIRE	PAAD	chr21	45713016	45713016	G	A	Missense_Mutation		1
AIRE	SKCM	chr21	45708313	45708313	G	A	Silent	p.G208G	1
AIRE	HNSC	chr21	45710865	45710865	G	T	Missense_Mutation	p.G59V	1
AIRE	SARC	chr21	45708260	45708260	G	T	Missense_Mutation	p.A191S	1
AIRE	SKCM	chr21	45711071	45711071	C	T	Missense_Mutation	p.P325S	1
AIRE	CESC	chr21	45717550	45717550	T	C	Silent		1
AIRE	LIHC	chr21	45709906	45709906	C	G	Missense_Mutation		1

Copy number variation (CNV) of AIRE
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across AIRE
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
100391	KIRP	TCGA-F9-A97G	PFKL	chr21	45739294	+	AIRE	chr21	45709540	+
100391	KIRP	TCGA-F9-A97G-01A	PFKL	chr21	45739711	+	AIRE	chr21	45708451	+
100391	LGG	TCGA-HW-7490-01A	PFKL	chr21	45720073	+	AIRE	chr21	45717539	+
100394	KIRC	TCGA-CJ-5681-01A	ZBTB21	chr21	43430361	-	AIRE	chr21	45716266	+

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Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
TGCT	AIRE	0.00217324942671521	0.061
LIHC	AIRE	0.00614894624113747	0.17
BLCA	AIRE	0.0170542968025047	0.44

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Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
THCA	AIRE	0.00700349454244407	0.22
LAML	AIRE	0.00653570472131202	0.22
SKCM	AIRE	0.0345955761663854	1

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Related Drugs

Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C0085859	Polyglandular Type I Autoimmune Syndrome	24	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
C3494489	Autoimmune polyendocrinopathy syndrome, type 1	2	CTD_human;ORPHANET
C0006840	Candidiasis	1	CTD_human
C0007114	Malignant neoplasm of skin	1	CTD_human
C0085860	Autoimmune Syndrome Type II, Polyglandular	1	CTD_human
C1535942	Polyglandular Type III Autoimmune Syndrome	1	CTD_human