Mutation analysis (InVEx)

Overview

Introduction

InVEx version 1.0.0.

Summary

There were 121 individual samples used in this analysis: 12 significant functional results, 1 significant loss-of-function (LoF) results, and 0 significant synonymous results were discovered.

Results

Q-Q Plot

Figure 1. Q-Q plot of functional mutation burden test and synonymous mutation burden test (lambda) across all genes with at least one mutation in the set of all sequenced samples. 'Genome-wide significance' dashed line indicates an FDR cut-off of q <= 0.2 for the functional mutation burden test.

Functional Mutation Burden Results Table

Table 1. Get Full Table Functional Mutation Burden Results Table - 12 significant result(s) found.

Gene	Transcript	P value	Real	Expected	In SwissProt	Individual Set	Q value
RAC1	uc003spx.2	1e-05	5.988	1.09351487208	yes	All_121-PQS_201111	0.02087375
PPP6C	uc010mww.2	1e-05	9.869	2.1514835	yes	All_121-PQS_201111	0.02087375
CDKN2A	uc003zpk.2	1e-05	13.988	5.088228012	yes	All_121-PQS_201111	0.02087375
NRAS	uc009wgu.2	1e-05	29	10.2125909739	yes	All_121-PQS_201111	0.02087375
BRAF	uc003vwc.3	1e-05	75.125	25.3623692954	yes	All_121-PQS_201111	0.02087375
TP53	uc002gig.1	1e-05	18	5.98705386	yes	All_121-PQS_201111	0.02087375
MAP2K1	uc010bhq.2	1e-05	5.978	1.1227134	yes	All_121-PQS_201111	0.02087375
PTEN	uc001kfb.2	1e-05	13.821	4.62120777	yes	All_121-PQS_201111	0.02087375
STK19	uc011dow.1	3e-05	3.50926756007	0.506901816923	yes	All_121-PQS_201111	0.0556633333333333
SNX31	uc011lhb.1	4e-05	5.957	1.4444642	yes	All_121-PQS_201111	0.066796
TACC1	uc003xmf.3	7e-05	5.995	1.55492267931	yes	All_121-PQS_201111	0.106266363636364
GCOM1	uc002aeo.2	0.00014	7.493	2.19544984849	yes	All_121-PQS_201111	0.194821666666667

Loss-of-function (LoF) Mutation Burden Results Table

Table 2. Get Full Table Loss-of-function (LoF) Mutation Burden Results Table - 1 significant result(s) found.

Gene	Transcript	P value	Real	Expected	In SwissProt	Individual Set	Q value
CDKN2A	uc003zpk.2	1e-05	6	1.16589	yes	All_121-PQS_201111	0.16699

Methods & Data

Input

Inputs description goes here.