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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: INPP5E (NCBI Gene ID:56623)

Gene Summary

Gene Summary

Gene Information	Gene Name: INPP5E
	Gene ID: 56623
	Gene Symbol	INPP5E
	Gene ID	56623
	Gene Name	inositol polyphosphate-5-phosphatase E
	Synonyms	CORS1\|CPD4\|JBTS1\|MORMS\|PPI5PIV\|pharbin
	Cytomap	9q34.3
	Type of Gene	protein-coding
	Description	phosphatidylinositol polyphosphate 5-phosphatase type IV72 kDa inositol polyphosphate 5-phosphatasephosphatidylinositol-3,4,5-trisphosphate 5-phosphatasephosphatidylinositol-4,5-bisphosphate 5-phosphatase
	Modification date	20200313
	UniProtAcc	Q9NRR6

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

GO ID	GO term
GO:0017148	Negative regulation of translation
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

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
INPP5E	(733 - 1119.25]

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Translation Studies in PubMed

We searched PubMed using 'INPP5E[title] AND translation [title] AND human.'

Gene	Title	PMID
INPP5E	.	.

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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
ENST00000371712	139324728	139324865	Frame-shift
ENST00000371712	139326930	139327038	In-frame
ENST00000371712	139327407	139327527	In-frame
ENST00000371712	139328488	139328586	Frame-shift

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)
ENST00000371712	139326930	139327038	3411	1683	1790	644	426	462
ENST00000371712	139327407	139327527	3411	1563	1682	644	386	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.
Q9NRR6	386	426	1	641	Chain	ID=PRO_0000209747;Note=72 kDa inositol polyphosphate 5-phosphatase;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:24166846;Dbxref=PMID:24166846
Q9NRR6	426	462	1	641	Chain	ID=PRO_0000209747;Note=72 kDa inositol polyphosphate 5-phosphatase;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:24166846;Dbxref=PMID:24166846
Q9NRR6	386	426	426	426	Natural variant	ID=VAR_077250;Note=In JBTS1. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23386033;Dbxref=PMID:23386033
Q9NRR6	426	462	426	426	Natural variant	ID=VAR_077250;Note=In JBTS1. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23386033;Dbxref=PMID:23386033
Q9NRR6	426	462	435	435	Natural variant	ID=VAR_063013;Note=In JBTS1%3B severe reduction of activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19668216,ECO:0000269\|PubMed:23386033;Dbxref=dbSNP:rs121918129,PMID:19668216,PMID:23386033
Q9NRR6	386	426	389	399	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2XSW
Q9NRR6	386	426	402	413	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2XSW
Q9NRR6	386	426	416	424	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2XSW
Q9NRR6	426	462	432	445	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2XSW
Q9NRR6	426	462	450	452	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2XSW
Q9NRR6	426	462	457	459	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2XSW

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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
COAD	INPP5E	-1.79371150935926	0.000166177749633789
HNSC	INPP5E	-1.20670052276246	0.00441007382391945
READ	INPP5E	-2.55093130612783	0.03125

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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
DLBC	INPP5E	hsa-miR-28-3p	91	-0.289893617021277	0.0484649036671097
OV	INPP5E	hsa-miR-181c-5p	82	0.389481772389652	0.00457452162485449
OV	INPP5E	hsa-miR-181d-5p	77	0.365320583966533	0.00807022946517256
UCEC	INPP5E	hsa-miR-181b-5p	84	0.358899923605806	0.0377866258875943

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

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with INPP5E (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
GBM	TF	INPP5E	SNAPC4	0.80254435	5.56E-40
KICH	Cell metabolism gene	INPP5E	PTGES2	0.803555973	9.23E-22
KICH	IUPHAR	INPP5E	PTGES2	0.803555973	9.23E-22
LAML	TF	INPP5E	ZNF579	0.803905197	1.95E-40
LAML	TF	INPP5E	E4F1	0.836216994	1.77E-46
LAML	TF	INPP5E	SNAPC4	0.846499736	1.10E-48

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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
KIRP	INPP5E	PIP5KL1	3.44120935146587	0.000133869703859091
LIHC	INPP5E	PTEN	-2.6008546724775	0.00022642142982966
KICH	INPP5E	INPP4B	2.67773623497516	0.00115483999252319
BLCA	INPP5E	INPP4B	1.38364237325446	0.00202178955078125
PRAD	INPP5E	PTEN	-2.79771916695596	0.00238821250154504
PRAD	INPP5E	INPP4B	1.6446165975677	0.0025365834294818
HNSC	INPP5E	PIP5KL1	1.33731982481264	0.00277281553030662
COAD	INPP5E	INPP4A	1.74322426781128	0.00390031933784485
CHOL	INPP5E	INPP4B	-1.68211944397201	0.00390625
CHOL	INPP5E	PIP5KL1	-4.72035103766249	0.00390625
LUAD	INPP5E	PTEN	-1.14193148262684	0.00584636622591657
CHOL	INPP5E	INPP4A	-7.18190583912661	0.0078125
STAD	INPP5E	PTEN	-1.14370044473497	0.0146764925035004
COAD	INPP5E	TPTE2	1.25731853027598	0.018102239875109
LUSC	INPP5E	PDE6D	-1.80270759082532	0.0193520018513058
HNSC	INPP5E	PIP5K1B	1.49857926850023	0.0240328997092547
READ	INPP5E	SACM1L	-1.59379967874154	0.03125
BRCA	INPP5E	PDE6D	-1.63708541356331	1.19549556846834e-14
HNSC	INPP5E	INPP4A	-2.07654536791121	1.2235591384524e-07
LUAD	INPP5E	PIP5K1B	-2.13153632937493	1.52431289293628e-10
KIRP	INPP5E	SACM1L	-1.9025599232288	1.80229544639588e-05
COAD	INPP5E	SACM1L	-5.10909575468345	2.69412994384766e-05
LIHC	INPP5E	PDE6D	-1.02375714851873	3.27330247270532e-06
LUAD	INPP5E	PDE6D	-2.99122861667671	3.32622703073417e-05
THCA	INPP5E	SACM1L	-1.25110193171325	3.34224234824891e-09
KIRP	INPP5E	PIP5K1B	-2.98250875550517	4.5965425670147e-06
BRCA	INPP5E	SACM1L	-1.23021890472102	4.72721104279417e-06
BRCA	INPP5E	ARL13B	-2.0233163699098	5.32449005155338e-05
LUSC	INPP5E	PIP5K1B	-5.89501984299632	5.62667765456517e-10
KIRC	INPP5E	PIP5KL1	1.70065010007154	6.86425076091111e-11
BRCA	INPP5E	PTEN	-1.00149961248319	8.07282076001632e-12
HNSC	INPP5E	SACM1L	2.28670225893036	8.09882294561249e-09
LUAD	INPP5E	ARL13B	-2.75691286061492	9.63288627303132e-11
THCA	INPP5E	PTEN	-1.49340162982404	9.83658076429943e-07

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

PPI interactors with INPP5E

PDE6D, KCTD3, CGN, KIF13B, ZBTB21, KSR1, RALGPS2, GIGYF1, RTKN, MAST3, LPIN3, LRFN1, GIGYF2, CDC25C, DENND4C, NF1, PPM1H, CBY1, SH3RF3, DENND1A, SH3PXD2A, SRGAP2, CAMSAP2, TANC2, PTPN13, EIF4E2, OSBPL6, SIPA1L1, HDAC4, NADK, RASAL2, LIMA1, MAGI1, KIAA1804, TESK2, DCLK1, MAPKAP1, TIAM1, KIF1C, ZNF638, NAV1, PLEKHA7, PHLDB2, STARD13, PTPN14, DENND4A, CWC25, RAB11FIP2, RPTOR, HDAC7, MTFR1L, RPGR, CEP170, DCAF7, YWHAE, TRIP4, HNRNPH1, YWHAH, YWHAB, YWHAG,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
INPP5E	chr9	139323201	A	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323214	A	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323311	T	C	single_nucleotide_variant	Benign	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323316	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323364	C	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323380	A	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323400	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323406	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323424	T	C	single_nucleotide_variant	Benign	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323497	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323545	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323568	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323643	G	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323799	A	G	single_nucleotide_variant	Benign	Joubert_syndrome_1\|not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323892	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139323914	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139324029	C	T	single_nucleotide_variant	Benign/Likely_benign	Joubert_syndrome_1\|not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139324114	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
INPP5E	chr9	139324139	GC	G	Deletion	Likely_pathogenic	Joubert_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
INPP5E	chr9	139324143	A	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324163	CTG	C	Deletion	Pathogenic	Joubert_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
INPP5E	chr9	139324165	G	A	single_nucleotide_variant	Likely_pathogenic	Joubert_syndrome_1	SO:0001587\|nonsense	SO:0001587\|nonsense
INPP5E	chr9	139324169	T	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324183	G	A	single_nucleotide_variant	Pathogenic	MORM_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
INPP5E	chr9	139324187	C	T	single_nucleotide_variant	Benign/Likely_benign	Joubert_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324194	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324200	C	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324200	C	T	single_nucleotide_variant	Likely_pathogenic	Rod-cone_dystrophy\|Leber_congenital_amaurosis\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324201	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Rod-cone_dystrophy\|Joubert_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324203	CTT	C	Deletion	Uncertain_significance	not_specified	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
INPP5E	chr9	139324213	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324216	G	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324218	A	C	single_nucleotide_variant	Pathogenic	Joubert_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
INPP5E	chr9	139324265	G	GAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCC	Duplication	Likely_benign	Joubert_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139324279	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139324292	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139324327	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139324513	GCCC	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139324573	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139324574	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139324597	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139324680	C	T	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139324731	G	C	single_nucleotide_variant	Uncertain_significance	Rod-cone_dystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324735	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324736	G	A	single_nucleotide_variant	Pathogenic	Joubert_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
INPP5E	chr9	139324737	C	A	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324740	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324740	C	T	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|MORM_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324741	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324744	C	G	single_nucleotide_variant	Likely_pathogenic	Rod-cone_dystrophy\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324761	G	A	single_nucleotide_variant	Benign/Likely_benign	Joubert_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324768	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324770	CA	C	Deletion	Pathogenic/Likely_pathogenic	Rod-cone_dystrophy\|Joubert_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
INPP5E	chr9	139324772	C	T	single_nucleotide_variant	Uncertain_significance	Retinal_dystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324773	A	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324777	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Rod-cone_dystrophy\|Joubert_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324784	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324788	C	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324788	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324789	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324799	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324801	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324815	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324834	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324842	G	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324843	C	T	single_nucleotide_variant	Pathogenic	Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324844	G	A	single_nucleotide_variant	Likely_pathogenic	Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324845	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324847	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324859	C	A	single_nucleotide_variant	Uncertain_significance	Retinal_dystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324860	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324860	G	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139324861	C	T	single_nucleotide_variant	Likely_pathogenic	Rod-cone_dystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324862	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139324870	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139324877	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139324884	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139324945	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139325191	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139325312	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139325354	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139325447	G	C	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139325454	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139325455	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139325467	G	A	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139325467	G	GTCC	Duplication	Uncertain_significance	Joubert_syndrome\|Joubert_syndrome_1	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
INPP5E	chr9	139325478	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139325486	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139325489	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139325490	G	C	single_nucleotide_variant	Pathogenic	Joubert_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
INPP5E	chr9	139325493	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139325496	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139325504	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139325526	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139325542	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Rod-cone_dystrophy\|Joubert_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139325554	C	G	single_nucleotide_variant	Likely_pathogenic	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139325583	G	A	single_nucleotide_variant	Benign/Likely_benign	Joubert_syndrome\|Joubert_syndrome_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139325641	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139325666	CT	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139325717	GCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCC	G	Deletion	Likely_benign	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326134	GCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGC	G	Deletion	Likely_benign	Joubert_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
INPP5E	chr9	139326236	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326253	T	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326257	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326258	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326258	GC	G	Deletion	Benign/Likely_benign	Joubert_syndrome\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326259	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326263	C	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326265	C	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326278	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326281	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326282	G	A	single_nucleotide_variant	Pathogenic	Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326282	G	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326290	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326293	AT	TG	Indel	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326295	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326304	G	A	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|MORM_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326316	C	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326317	G	A	single_nucleotide_variant	Uncertain_significance	Retinal_dystrophy\|Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326319	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326320	G	A	single_nucleotide_variant	Uncertain_significance	Retinal_dystrophy\|Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326331	C	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326336	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326346	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326355	G	A	single_nucleotide_variant	Benign	Joubert_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326357	C	A	single_nucleotide_variant	Pathogenic	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326360	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326361	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326369	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Rod-cone_dystrophy\|Joubert_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326372	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326373	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326384	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326395	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326415	A	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326418	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326423	G	A	single_nucleotide_variant	Uncertain_significance	Rod-cone_dystrophy\|Retinal_dystrophy\|Joubert_syndrome\|Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326432	C	T	single_nucleotide_variant	Uncertain_significance	Rod-cone_dystrophy\|Joubert_syndrome\|Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326433	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326437	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326441	C	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326441	C	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326442	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326450	G	A	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326781	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326812	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326816	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326882	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326887	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326911	C	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326912	G	A	single_nucleotide_variant	Benign	Joubert_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326914	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326922	C	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326923	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139326934	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326938	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326942	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326943	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326944	A	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326957	T	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326958	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326959	G	A	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139326964	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326981	A	G	single_nucleotide_variant	Uncertain_significance	Retinal_dystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326987	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326993	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139326999	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327000	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327005	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327006	C	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327006	C	T	single_nucleotide_variant	Likely_pathogenic	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327014	C	T	single_nucleotide_variant	Pathogenic	Retinal_dystrophy\|Joubert_syndrome\|Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327015	G	A	single_nucleotide_variant	Likely_pathogenic	Joubert_syndrome_and_related_disorders	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327019	C	T	single_nucleotide_variant	Benign/Likely_benign	Joubert_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327034	A	G	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|MORM_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327049	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327062	G	A	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327064	A	G	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327143	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327154	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327277	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327394	A	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327412	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327412	G	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327420	A	G	single_nucleotide_variant	Uncertain_significance	Rod-cone_dystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327421	C	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327430	GAGGA	G	Microsatellite	Pathogenic	Joubert_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
INPP5E	chr9	139327438	A	G	single_nucleotide_variant	Pathogenic	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327439	A	G	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|MORM_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327463	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327489	G	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327491	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327495	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327496	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327498	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327509	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327511	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327512	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327525	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327573	T	TTCCAGCCGCGCCCACCCC	Duplication	Likely_benign	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
INPP5E	chr9	139327573	T	TTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCCC	Microsatellite	Benign	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
INPP5E	chr9	139327573	TTCCAGCCGCGCCCACCCC	T	Deletion	Uncertain_significance	Joubert_syndrome_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
INPP5E	chr9	139327577	A	T	single_nucleotide_variant	Benign/Likely_benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327581	G	A	single_nucleotide_variant	Benign/Likely_benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327598	C	CGCGCCCACCCCTCCAGCT	Insertion	Likely_benign	Joubert_syndrome\|not_specified\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
INPP5E	chr9	139327598	C	T	single_nucleotide_variant	Benign/Likely_benign	Joubert_syndrome\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327599	G	A	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327599	G	GCGCCCACCCCTCCAGCCA	Insertion	Benign/Likely_benign	Joubert_syndrome\|not_specified\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
INPP5E	chr9	139327599	G	GCGCCCACCCCTCCAGCCACGCCCACCCCTCCAGCCA	Insertion	Likely_benign	Joubert_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
INPP5E	chr9	139327599	G	GCGCCCACCCCTCCAGCCGCGCCCACCCCTCCAGCCA	Insertion	Benign	Joubert_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
INPP5E	chr9	139327599	G	GCGCCCACCCCTCTAGCCA	Insertion	Benign	Joubert_syndrome\|not_specified\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
INPP5E	chr9	139327612	C	T	single_nucleotide_variant	Pathogenic	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327630	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327633	C	T	single_nucleotide_variant	Likely_pathogenic	Retinal_dystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327634	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Cleft_palate\|Micrognathia\|Patent_ductus_arteriosus\|Clubfoot\|Preaxial_foot_polydactyly\|Joubert_syndrome\|Skeletal_dysplasia\|Respiratory_failure\|Hemivertebrae\|Short_femur\|Vertebral_segmentation_defect\|Pseudoarthrosis\|Abnormal_pulmonary_interstitial_morpholog	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327641	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327659	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327662	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327671	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327672	G	A	single_nucleotide_variant	Uncertain_significance	Rod-cone_dystrophy\|Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327675	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327692	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327693	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327701	C	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327702	G	A	single_nucleotide_variant	Pathogenic	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327714	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327719	C	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327728	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139327730	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139327736	AGAG	A	Microsatellite	Likely_benign	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327858	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327859	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327869	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327946	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139327985	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139328223	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139328369	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139328481	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139328486	T	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139328502	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139328514	C	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139328526	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139328537	T	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139328541	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139328542	G	A	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139328547	C	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139328548	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139328548	G	C	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139328551	T	C	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|MORM_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139328557	C	CAGGAACTCGTCCAGGCTGGGCGG	Duplication	Likely_pathogenic	Rod-cone_dystrophy	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
INPP5E	chr9	139328566	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139328571	G	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139328574	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139328579	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139328722	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139328823	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139328926	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139329214	G	A	single_nucleotide_variant	Uncertain_significance	Rod-cone_dystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139329216	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139329221	C	A	single_nucleotide_variant	Uncertain_significance	Rod-cone_dystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139329221	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139329222	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139329222	G	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139329234	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139329236	T	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139329251	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139329253	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|Joubert_syndrome_1\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139329254	G	C	single_nucleotide_variant	Likely_pathogenic	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139329256	G	A	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139329275	A	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139329284	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139329285	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139329296	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139329303	C	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139329309	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139329320	G	C	single_nucleotide_variant	Benign/Likely_benign	Joubert_syndrome\|Joubert_syndrome_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139329323	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139329324	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139329324	G	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139329456	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139329475	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139329565	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139333025	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139333048	GGCCC	G	Deletion	Uncertain_significance	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139333049	G	GCCCT	Microsatellite	Uncertain_significance	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139333049	GCCCT	A	Indel	Uncertain_significance	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139333053	TCCC	T	Deletion	Uncertain_significance	Joubert_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
INPP5E	chr9	139333064	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333081	C	T	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333108	G	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333118	A	G	single_nucleotide_variant	Uncertain_significance	Retinal_dystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333120	C	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333123	AG	A	Deletion	Pathogenic	Joubert_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
INPP5E	chr9	139333125	G	C	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333126	G	A	single_nucleotide_variant	Likely_pathogenic	Rod-cone_dystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333131	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333133	C	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333148	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333185	C	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333196	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333217	A	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333219	T	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333226	G	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333236	G	T	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333249	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333264	G	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333269	G	C	single_nucleotide_variant	Benign/Likely_benign	Joubert_syndrome\|Joubert_syndrome_1\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333279	C	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333281	C	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333286	C	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333289	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333292	G	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333300	G	C	single_nucleotide_variant	Benign/Likely_benign	Joubert_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333311	G	GATGGGCAGC	Insertion	Likely_benign	Joubert_syndrome	SO:0001820\|inframe_indel	SO:0001820\|inframe_indel
INPP5E	chr9	139333318	A	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333323	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333325	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333340	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333341	G	T	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333344	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333347	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333351	C	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333356	C	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333362	G	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333366	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333381	A	AC	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
INPP5E	chr9	139333398	A	AC	Duplication	Pathogenic/Likely_pathogenic	Rod-cone_dystrophy\|Joubert_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
INPP5E	chr9	139333398	AC	A	Deletion	Likely_pathogenic	Retinal_dystrophy\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
INPP5E	chr9	139333399	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333403	C	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|Joubert_syndrome_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333412	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333425	ACTGC	A	Deletion	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
INPP5E	chr9	139333449	G	C	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333450	G	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333480	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333509	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333537	G	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333549	C	T	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333550	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333556	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333561	T	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333562	C	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333568	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333570	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333571	C	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333588	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333589	G	GCCT	Microsatellite	Uncertain_significance	Joubert_syndrome	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
INPP5E	chr9	139333592	T	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333593	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333610	C	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333617	G	A	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333617	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333647	G	C	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333655	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333661	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333664	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333671	T	C	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333675	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333711	G	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333722	A	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333736	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333745	G	GAGCATCGGGTGGGGACCCCGC	Duplication	Uncertain_significance	Joubert_syndrome	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
INPP5E	chr9	139333752	G	A	single_nucleotide_variant	Benign/Likely_benign	Joubert_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333765	G	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333777	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333777	G	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333780	G	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333788	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333811	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333825	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333827	CG	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
INPP5E	chr9	139333837	T	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333838	C	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333839	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333839	G	C	single_nucleotide_variant	Benign	Joubert_syndrome\|Joubert_syndrome_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333851	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Joubert_syndrome\|Joubert_syndrome_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333854	C	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333861	T	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
INPP5E	chr9	139333866	C	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
INPP5E	chr9	139333902	C	G	single_nucleotide_variant	Likely_benign	Joubert_syndrome_1\|not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
INPP5E	chr9	139333912	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
INPP5E	chr9	139334020	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
INPP5E	chr9	139334021	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
INPP5E	chr9	139334045	C	T	single_nucleotide_variant	Benign/Likely_benign	Joubert_syndrome_1\|not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
INPP5E	chr9	139334046	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
INPP5E	chr9	139334110	G	C	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
INPP5E	chr9	139334142	G	A	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
INPP5E	chr9	139334214	A	G	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
INPP5E	chr9	139334218	C	T	single_nucleotide_variant	Uncertain_significance	Joubert_syndrome_1	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
INPP5E	chr9	139334300	G	A	single_nucleotide_variant	Benign	not_provided	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_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
INPP5E	COAD	chr9	139327500	139327500	C	T	Missense_Mutation	p.R396H	6
INPP5E	LGG	chr9	139327034	139327034	A	G	Silent	p.G428G	6
INPP5E	BLCA	chr9	139325493	139325493	C	T	Silent	p.T542T	4
INPP5E	KIRP	chr9	139324740	139324740	C	T	Silent	p.P597P	4
INPP5E	UVM	chr9	139333192	139333192	A	C	Missense_Mutation	p.L227R	3
INPP5E	COAD	chr9	139326959	139326959	G	A	Silent	p.P453P	3
INPP5E	STAD	chr9	139325453	139325453	C	T	Splice_Site		3
INPP5E	THYM	chr9	139324862	139324862	G	T	Missense_Mutation		2
INPP5E	LIHC	chr9	139324800	139324800	G	-	Frame_Shift_Del	p.P577fs	2
INPP5E	LUAD	chr9	139327515	139327515	G	C	Missense_Mutation	p.S391C	2
INPP5E	PRAD	chr9	139329254	139329254	G	A	Missense_Mutation	p.R292C	2
INPP5E	ACC	chr9	139324136	139324136	G	A	Silent	p.S642S	2
INPP5E	STAD	chr9	139326422	139326422	C	T	Missense_Mutation	p.R468H	2
INPP5E	STAD	chr9	139329213	139329213	G	T	Silent	p.T305T	2
INPP5E	STAD	chr9	139325467	139325467	G	A	Missense_Mutation	p.T551M	2
INPP5E	CESC	chr9	139327439	139327439	A	G	Silent		2
INPP5E	UCEC	chr9	139324228	139324228	C	A	Nonsense_Mutation	p.E612*	2
INPP5E	BLCA	chr9	139325493	139325493	C	T	Silent		2
INPP5E	STAD	chr9	139326317	139326317	G	A	Missense_Mutation	p.A503V	2
INPP5E	CESC	chr9	139325521	139325521	G	A	Missense_Mutation		2
INPP5E	SKCM	chr9	139326424	139326424	G	A	Silent	p.T467T	2
INPP5E	UCS	chr9	139327477	139327487	TGGTCTTGATC	-	Frame_Shift_Del	p.QIKTK400fs	2
INPP5E	PAAD	chr9	139333311	139333311	G	A	Silent	p.S187S	2
INPP5E	BLCA	chr9	139326391	139326391	G	A	Silent	p.F478F	2
INPP5E	ESCA	chr9	139327500	139327500	C	T	Missense_Mutation		2
INPP5E	KIRP	chr9	139333176	139333176	G	T	Missense_Mutation	p.S232R	1
INPP5E	COAD	chr9	139326316	139326316	C	T	Silent	p.A503A	1
INPP5E	ESCA	chr9	139324152	139324152	G	A	Missense_Mutation		1
INPP5E	STAD	chr9	139326304	139326304	G	A	Silent		1
INPP5E	BLCA	chr9	139324229	139324229	T	C	Silent	p.R611R	1
INPP5E	KIRP	chr9	139324737	139324737	C	A	Silent	p.G598G	1
INPP5E	THYM	chr9	139324862	139324862	G	T	Missense_Mutation	p.R557S	1
INPP5E	LIHC	chr9	139329269	139329269	C	-	Frame_Shift_Del	p.A287fs	1
INPP5E	PRAD	chr9	139326360	139326360	C	T	Missense_Mutation	p.V489M	1
INPP5E	ESCA	chr9	139328550	139328550	C	T	Missense_Mutation	p.A325T	1
INPP5E	STAD	chr9	139325453	139325453	C	T	Splice_Site	.	1
INPP5E	BLCA	chr9	139327496	139327496	G	A	Silent	p.I397I	1
INPP5E	THYM	chr9	139328532	139328532	G	T	Missense_Mutation	p.Q331K	1
INPP5E	COAD	chr9	139326972	139326972	G	T	Missense_Mutation	p.P449H	1
INPP5E	ESCA	chr9	139327463	139327463	G	T	Silent	p.G408G	1
INPP5E	CESC	chr9	139324740	139324740	C	T	Silent		1
INPP5E	KIRP	chr9	139327715	139327715	G	T	Missense_Mutation		1
INPP5E	THYM	chr9	139327466	139327466	C	T	Silent	p.L407L	1
INPP5E	LUAD	chr9	139333264	139333264	G	A	Missense_Mutation	p.S203F	1
INPP5E	PRAD	chr9	139333278	139333278	G	T	Missense_Mutation	p.S198R	1
INPP5E	BLCA	chr9	139326391	139326391	G	A	Silent		1
INPP5E	ESCA	chr9	139324165	139324165	G	A	Nonsense_Mutation		1
INPP5E	CESC	chr9	139327034	139327034	A	G	Silent		1
INPP5E	KIRP	chr9	139325463	139325463	G	T	Silent		1
INPP5E	UCEC	chr9	139324149	139324149	C	T	Missense_Mutation	p.S638N	1
INPP5E	COAD	chr9	139328551	139328551	T	C	Silent	p.P324P	1
INPP5E	LUSC	chr9	139333230	139333230	C	A	Silent	p.S214S	1
INPP5E	SARC	chr9	139333146	139333146	G	T	Silent		1
INPP5E	BLCA	chr9	139333236	139333236	G	A	Silent		1
INPP5E	GBM	chr9	139327520	139327520	C	G	Missense_Mutation	p.E389D	1
INPP5E	COAD	chr9	139329257	139329257	C	T	Missense_Mutation	p.A291T	1
INPP5E	LUSC	chr9	139329253	139329253	C	T	Missense_Mutation	p.R292H	1
INPP5E	SARC	chr9	139326933	139326933	G	T	Missense_Mutation		1
INPP5E	GBM	chr9	139327520	139327520	C	G	Missense_Mutation		1
INPP5E	UCS	chr9	139327477	139327487	TGGTCTTGATC	-	Frame_Shift_Del		1
INPP5E	CESC	chr9	139328551	139328551	T	C	Silent		1
INPP5E	LGG	chr9	139326361	139326361	G	A	Silent	p.V488V	1
INPP5E	COAD	chr9	139333269	139333269	G	C	Missense_Mutation	p.I201M	1
INPP5E	LUSC	chr9	139327487	139327487	C	G	Missense_Mutation	p.Q400H	1
INPP5E	SARC	chr9	139328500	139328500	G	T	Silent		1
INPP5E	BLCA	chr9	139324229	139324229	T	C	Silent		1
INPP5E	HNSC	chr9	139327608	139327608	T	C	Silent		1
INPP5E	STAD	chr9	139333133	139333133	C	T	Missense_Mutation	p.D247N	1
INPP5E	UCS	chr9	139327477	139327487	TGGTCTTGATC	-	Frame_Shift_Del	p.401_404del	1
INPP5E	LIHC	chr9	139326378	139326378	T	C	Missense_Mutation		1
INPP5E	ESCA	chr9	139324152	139324152	G	A	Missense_Mutation	p.S637F	1
INPP5E	PAAD	chr9	139324245	139324245	G	T	Missense_Mutation		1
INPP5E	BLCA	chr9	139327496	139327496	G	A	Silent		1
INPP5E	HNSC	chr9	139333155	139333155	C	A	Silent		1
INPP5E	STAD	chr9	139328514	139328514	C	T	Missense_Mutation	p.G337R	1
INPP5E	CESC	chr9	139325521	139325521	G	A	Missense_Mutation	p.S533L	1
INPP5E	LIHC	chr9	139333590	139333590	C	A	Missense_Mutation	p.R94S	1
INPP5E	ESCA	chr9	139324165	139324165	G	A	Nonsense_Mutation	p.Q633*	1
INPP5E	SKCM	chr9	139324151	139324151	G	A	Silent	p.S637S	1
INPP5E	HNSC	chr9	139326414	139326414	C	A	Nonsense_Mutation	p.E471*	1
INPP5E	STAD	chr9	139324254	139324254	G	A	Missense_Mutation	p.P603L	1
INPP5E	UCS	chr9	139333399	139333399	C	-	Frame_Shift_Del	p.G158fs	1
INPP5E	COAD	chr9	139325466	139325466	C	T	Silent	p.T551T	1
INPP5E	LIHC	chr9	139324161	139324161	C	G	Missense_Mutation	p.S634T	1
INPP5E	ESCA	chr9	139327463	139327463	G	T	Silent	p.G408	1
INPP5E	PAAD	chr9	139333504	139333508	GCCCC	-	Frame_Shift_Del	p.GA122fs	1
INPP5E	SKCM	chr9	139327674	139327674	G	A	Silent	p.S364S	1
INPP5E	BLCA	chr9	139327638	139327638	G	C	Missense_Mutation	p.F376L	1
INPP5E	HNSC	chr9	139333155	139333155	C	A	Silent	p.P239P	1
INPP5E	THYM	chr9	139328532	139328532	G	T	Missense_Mutation		1
INPP5E	UVM	chr9	139333192	139333192	A	C	Missense_Mutation		1
INPP5E	COAD	chr9	139326304	139326304	G	A	Silent	p.H507H	1
INPP5E	LIHC	chr9	139327478	139327478	G	A	Silent	p.T403T	1
INPP5E	PAAD	chr9	139324245	139324245	G	T	Missense_Mutation	p.A606D	1

Copy number variation (CNV) of INPP5E
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across INPP5E
* 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
59453	UCS	TCGA-N9-A4Q4-01A	INPP5E	chr9	139327408	-	EDF1	chr9	139758323	-
39840	SARC	TCGA-DX-A3LS-01A	INPP5E	chr9	139333060	-	GLT6D1	chr9	138523324	-
100911	N/A	CN331953	INPP5E	chr9	139327518	+	INPP5E	chr9	139327019	-
84651	OV	TCGA-29-1710	INPP5E	chr9	139326275	-	LCN6	chr9	139642015	-
101350	LUSC	TCGA-56-6546-01A	INPP5E	chr9	139328489	-	SEC16A	chr9	139352036	-
100936	N/A	BM148543	ZFAND3	chr6	37889261	-	INPP5E	chr9	139323071	+

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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
KIRC	INPP5E	0.00460618751355363	0.13
KIRP	INPP5E	0.0143476753385659	0.39
SKCM	INPP5E	0.0178153296855521	0.46
TGCT	INPP5E	0.0194133458664829	0.49

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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
TGCT	INPP5E	0.0157247374817387	0.46
KICH	INPP5E	0.000869140761611326	0.028
BRCA	INPP5E	0.0115269779773083	0.35
PRAD	INPP5E	0.0214993635531673	0.6
ESCA	INPP5E	0.0023925333236224	0.074
THYM	INPP5E	7.23570331009284e-05	0.0024

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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
C4551568	Joubert syndrome 1	7	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
C0431399	Familial aplasia of the vermis	4	CTD_human;GENOMICS_ENGLAND;ORPHANET
C1857802	MORM syndrome	4	CTD_human;GENOMICS_ENGLAND;ORPHANET
C4274118	Joubert syndrome with ocular defect	2	ORPHANET
C4551720	Primary Ciliary Dyskinesia	2	CTD_human
C0020796	Profound Mental Retardation	1	CTD_human
C0028754	Obesity	1	CTD_human
C0917816	Mental deficiency	1	CTD_human
C1857662	COACH syndrome	1	ORPHANET