ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
TRIO	O75962	Ubiquitination	1131	K1131-ub	LHYWTMRkRRLDQCQ	346.9	15399279
TRIO	O75962	Phosphorylation	116	S116-p	SYLACIPsEEVCKRG	346.9	23155526
TRIO	O75962	Phosphorylation	1258	S1258-p	DSNKSSKsLQLDIIP	346.9	56651422
TRIO	O75962	Phosphorylation	1459	S1459-p	DGLEVMLsVPKRAND	346.9	23155529
TRIO	O75962	Phosphorylation	1545	T1545-p	FTSELGVtEHVEGDP	346.9	456722
TRIO	O75962	Phosphorylation	1627	S1627-p	RDGEDLDsQGDGSSQ	346.9	4715605
TRIO	O75962	Phosphorylation	1645	S1645-p	ISIASRTsQNTLDSD	346.9	56651426
TRIO	O75962	Phosphorylation	1655	S1655-p	TLDSDKLsGGCELTV	346.9	56651430
TRIO	O75962	Phosphorylation	1700	T1700-p	PDWCLVRtTDRsPAA	346.9	31876346
TRIO	O75962	Phosphorylation	1704	S1704-p	LVRtTDRsPAAEGLV	346.9	31885598
TRIO	O75962	Phosphorylation	1723	S1723-p	LCIAHSRssMEMEGI	346.9	31874029
TRIO	O75962	Phosphorylation	1724	S1724-p	CIAHSRssMEMEGIF	346.9	17551095
TRIO	O75962	Phosphorylation	1745	S1745-p	SVSSNDAsPPAsVAs	346.9	27721636
TRIO	O75962	Phosphorylation	1749	S1749-p	NDAsPPAsVAsLQPH	346.9	31883687
TRIO	O75962	Phosphorylation	1752	S1752-p	sPPAsVAsLQPHMIG	346.9	31884986
TRIO	O75962	Phosphorylation	1778	T1778-p	NTLRKWLtsPVRRLs	346.9	5197039
TRIO	O75962	Phosphorylation	1779	S1779-p	TLRKWLtsPVRRLss	346.9	4169536
TRIO	O75962	Phosphorylation	1785	S1785-p	tsPVRRLssGKADGH	346.9	3895369
TRIO	O75962	Phosphorylation	1786	S1786-p	sPVRRLssGKADGHV	346.9	4943282
TRIO	O75962	Acetylation	1808	K1808-ac	KKSREVRksADAGsQ	346.9	15296543

Showing 1 to 20 of 83 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Insertion - In Frame

Nonstop Extension

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
TRIO	ENST00000344204	LICA-CN-HCC079T	liver	other	29864569	c.594A>T	p.L198=	Substitution - coding silent	PATHOGENIC	.81354	Confirmed somatic variant	PMID: N/A	primary	198
TRIO	ENST00000344204	HCC72T	liver	carcinoma	29854918	c.3766-31A>T	p.?	Unknown	NEUTRAL	.16059	Reported in another cancer sample as somatic	PMID: N/A	primary	0
TRIO	ENST00000344204	TCGA-G2-AA3B-01	urinary_tract	carcinoma	29864482	c.1486C>G	p.L496V	Substitution - Missense	NEUTRAL	.27729	Confirmed somatic variant	PMID: N/A	primary	496
TRIO	ENST00000344204	TCGA-G2-AA3B-01	urinary_tract	carcinoma	29864485	c.6435G>C	p.M2145I	Substitution - Missense	PATHOGENIC	.99605	Confirmed somatic variant	PMID: N/A	primary	2145
TRIO	ENST00000344204	LUAD-B02216	lung	carcinoma	29869788	c.3315T>A	p.P1105=	Substitution - coding silent	NEUTRAL	.1947	Variant of unknown origin	PMID: 22980975	primary	1105
TRIO	ENST00000344204	PD6466b	NS	NS	29858049	c.5203+20025_5203+20028del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
TRIO	ENST00000344204	5-VS054-T1	skin	carcinoma	29876056	c.6163T>C	p.L2055=	Substitution - coding silent	PATHOGENIC	.8749	Confirmed somatic variant	PMID: 26950094	NS	2055
TRIO	ENST00000344204	5-VS054-T1	skin	carcinoma	29868717	c.2514G>A	p.M838I	Substitution - Missense	PATHOGENIC	.96072	Confirmed somatic variant	PMID: 26950094	NS	838
TRIO	ENST00000344204	W10T	thyroid	carcinoma	29870428	c.6637C>G	p.L2213V	Substitution - Missense	PATHOGENIC	.95718	Confirmed somatic variant	PMID: N/A	primary	2213
TRIO	ENST00000344204	2588332	upper_aerodigestive_tract	carcinoma	29852266	c.266C>T	p.T89M	Substitution - Missense	PATHOGENIC	.98859	Confirmed somatic variant	PMID: 26619122	metastasis	89
TRIO	ENST00000344204	8066067	pancreas	carcinoma	29857287	c.158-45978T>A	p.?	Unknown	NEUTRAL	.03574	Confirmed somatic variant	PMID: N/A	NS	0
TRIO	ENST00000344204	BD62T	biliary_tract	carcinoma	29867451	c.1425A>G	p.S475=	Substitution - coding silent	NEUTRAL	.03481	Confirmed somatic variant	PMID: N/A	primary	475
TRIO	ENST00000344204	SJHGG028_D	central_nervous_system	glioma	29873413	c.2046+9399G>C	p.?	Unknown	NEUTRAL	.02466	Confirmed somatic variant	PMID: 24705251	NS	0
TRIO	ENST00000344204	SJHGG028_D	central_nervous_system	glioma	29873401	c.158-20582C>G	p.?	Unknown	PATHOGENIC	.72483	Confirmed somatic variant	PMID: 24705251	NS	0
TRIO	ENST00000344204	5-VS054-T1	skin	carcinoma	29876064	c.7632+763C>T	p.?	Unknown	NEUTRAL	.08586	Confirmed somatic variant	PMID: 26950094	NS	0
TRIO	ENST00000344204	STC252	stomach	carcinoma	29869604	c.415A>G	p.K139E	Substitution - Missense	PATHOGENIC	.96135	Confirmed somatic variant	PMID: 25042771	primary	139
TRIO	ENST00000344204	PD13418a	breast	carcinoma	29858004	c.7880+573C>T	p.?	Unknown	NEUTRAL	.00161	Confirmed somatic variant	PMID: N/A	NS	0
TRIO	ENST00000344204	PD13418a	breast	carcinoma	29858000	c.5204-16423_5204-16420del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	NS	0
TRIO	ENST00000344204	PD13418a	breast	carcinoma	29857994	c.2391+364C>T	p.?	Unknown	NEUTRAL	.0117	Confirmed somatic variant	PMID: N/A	NS	0
TRIO	ENST00000344204	T_CCA_SG_15	biliary_tract	carcinoma	29851385	c.5204-2962del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 1,556 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00018	SH3_1	SH3 domain	1662-1713	CL0010	SH3	Homo sapiens
PF00169	PH	PH domain	1480-1591	CL0266	PH	Homo sapiens
PF00169	PH	PH domain	2159-2271	CL0266	PH	Homo sapiens
PF00435	Spectrin	Spectrin repeat	340-446			Homo sapiens
PF00435	Spectrin	Spectrin repeat	1138-1244			Homo sapiens
PF00435	Spectrin	Spectrin repeat	907-1011			Homo sapiens
PF00435	Spectrin	Spectrin repeat	566-672			Homo sapiens
PF00621	RhoGEF	RhoGEF domain	1973-2143			Homo sapiens
PF00621	RhoGEF	RhoGEF domain	1296-1468			Homo sapiens
PF00650	CRAL_TRIO	CRAL/TRIO domain	70-204	CL0512	CRAL_TRIO	Homo sapiens
PF16609	SH3-RhoG_link	SH3-RhoGEF linking unstructured region	1715-1972			Homo sapiens
PF07679	I-set	Immunoglobulin I-set domain	2685-2776	CL0011	Ig	Homo sapiens
PF00069	Pkinase	Protein kinase domain	2796-3050	CL0016	PKinase	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.636	0.517
Liver neoplasms	Neoplasms ; Digestive System Diseases ;	0.636	0.517
Acute Myeloid Leukemia, M1	Neoplasms ;	0.636	0.517
Precancerous Conditions	Neoplasms ;	0.636	0.517
Metastatic melanoma	N/A	0.636	0.517
Condition, Preneoplastic	Neoplasms ;	0.636	0.517
Malignant neoplasm of liver	Neoplasms ; Digestive System Diseases ;	0.636	0.517
Neurodevelopmental Disorders	Mental Disorders ;	0.636	0.517
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.636	0.517
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44	N/A	0.636	0.517
NO RESULT FOUND

Description:	trio Rho guanine nucleotide exchange factor [Source:NCBI gene;Acc:717492]
Synonyms:
Other ID(s):	ENSMMUG00000015489
Protein Accession Numbers:	XP_014995236, XP_014995235
Statistics:	ClinVar(303) COSMIC(1556) PTM(83)

Classification of Clinicial Significance of ClinVar Data