Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene

Table 2

Gene, protein, and clinically significant information of triple damaging predicted SNPs.

SNP ID	Ch7 location	Nucleotide change	Protein ID	Amino acid change	Clin/sig
rs150050723	140534634	T|G	ENSP00000288602	Q93H	—
rs180177034	140501336	C|G	ENSP00000288602	A246P	Path/3
rs387906660	140501350	G|A	ENSP00000288602	T241M	Path/3
rs387906660		G|C	ENSP00000288602	T241R
rs387906661	140501351	T|G	ENSP00000288602	T241P	Path/5
rs397507466	140501337	T|G	ENSP00000288602	L245F	Path/2
rs397507467	140501332	A|G	ENSP00000288602	F247S	L.Path/1
rs397509343	140501331	A|C	ENSP00000288602	F247L	L.Path/1
rs267601317	140494148	G|A	ENSP00000288602	P367L	—
rs199927105	140482930	G|T	ENSP00000288602	P402H	—
rs121913348	140481417	C|G	ENSP00000288602	G464A	Path/3
rs121913348		C|A	ENSP00000288602	G464V	L.Path/1
rs121913348		C|T	ENSP00000288602	G464E
rs121913353	140481412	C|G	ENSP00000288602	G466R	L.Path/1
rs121913357	140481403	C|T	ENSP00000288602	G469R	—
rs121913376	140481397	C|A	ENSP00000288602	V471F	Path/1
rs121913376		C|T	ENSP00000288602	V471I	L.Path/1
rs180177033	140481420	A|C	ENSP00000288602	I463S	Path/1
rs397507473	140481405	A|G	ENSP00000288602	F468S	Path/2
rs121913349	140481418	C|G	ENSP00000288602	G464R	—
rs121913371	140481478	G|A	ENSP00000288602	R444W	—
rs121913351	140481411	C|G	ENSP00000288602	G466A	Path/2
rs121913351		C|A	ENSP00000288602	G466V
rs121913351		C|T	ENSP00000288602	G466E
rs121913355	140481402	C|G	ENSP00000288602	G469A	Path/1
rs121913355		C|A	ENSP00000288602	G469V
rs121913355		C|T	ENSP00000288602	G469E
rs180177036	140477853	C|G	ENSP00000288602	L485F	Path/2
rs180177038		C|T	ENSP00000288602	E501K
rs180177039		T|C	ENSP00000288602	E501G
rs397507474	140477861	T|G	ENSP00000288602	K483Q	Path/2
rs397507475	140477854	A|G	ENSP00000288602	L485S	Path/2
rs397507476	140477811	T|G	ENSP00000288602	K499N	Path/1
rs397507477	140477795	G|A	ENSP00000288602	L505F	L.Path/1
rs375520366	140476806	G|A	ENSP00000288602	P490S	Path/1
rs180177041	140476806	C|G	ENSP00000288602	G534R	Path/1
rs397507479	140476811	C|T	ENSP00000288602	C532Y	Path/1
rs180177040	140453987	T|G	ENSP00000288602	N581H	Path/2
rs180177040		T|C	ENSP00000288602	N581D
rs397507481	140454006	G|C	ENSP00000288602	H574Q	Path/1
rs121913341	140453150	A|C	ENSP00000288602	F595L	Path/2
rs121913361	140453149	C|G	ENSP00000288602	G596R	Un.S/1
rs121913364	140453134	T|C	ENSP00000288602	K601E	—
rs121913366	140453145	A|T	ENSP00000288602	L597Q	Path/1
rs121913366		A|C	ENSP00000288602	L597R
rs121913370	140453193	T|C	ENSP00000288602	N581S	L.Path/1
rs121913375	140453139	G|A	ENSP00000288602	T599I	Path/1
rs397507483	140453148	C|A	ENSP00000288602	G596V	Path/3
rs397507484	140453133	T|A	ENSP00000288602	K601I	Path/1; L.Path/1
rs121913225	140453151	A|G	ENSP00000288602	F595S	—
rs121913337	140453153	A|T	ENSP00000288602	D594E	—
rs121913362	140453159	T|C	ENSP00000288602	I592M	—
rs121913365	140453132	T|G	ENSP00000288602	K601N	—
rs372569965	140453127	C|T	ENSP00000288602	R603Q	—
rs180177042	140449165	A|T	ENSP00000288602	D638E	Path/2
rs397507485	140439727	C|T	ENSP00000288602	R671Q	Path/1
rs397507486	140439613	T|C	ENSP00000288602	Q709R	Path/1
rs55715359	140439664	A|G	ENSP00000288602	L692S	—
rs397507487	140434543	G|A	ENSP00000288602	R719C	Path/1
rs200490285	140434452	G|T	ENSP00000288602	A749D	—
rs368528867	140434542	C|A	ENSP00000288602	R719L	—
rs180177040	140453987	T|G	ENSP00000418033	N9H	Path/2
rs121913341	140453150	A|C	ENSP00000418033	F23L	Path/1; L.Path/2
rs121913361	140453149	C|G	ENSP00000418033	G24R	Un.S
rs121913364	140453134	T|C	ENSP00000418033	K29E	Path/2; L.Path/1
rs121913366	140453145	A|T	ENSP00000418033	L25Q	Path/1
rs121913366		A|C	ENSP00000418033	L25R
rs121913375	140453139	G|A	ENSP00000418033	T27I	Path/1
rs397507483	140453148	C|A	ENSP00000418033	G24Y	Path/3
rs397507484	140453133	T|A	ENSP00000418033	K29I	Path/1; L.Path/1
rs121913225	140453151	A|G	ENSP00000418033	F23S	—
rs121913337	140453153	A|T	ENSP00000418033	D22E	—
rs121913362	140453159	T|C	ENSP00000418033	I20M	—
rs121913365	140453132	T|G	ENSP00000418033	K29N	—
rs180177042	140449165	A|T	ENSP00000418033	D66E	Path/2
rs199927105	140482930	G|T	ENSP00000419060	P10H	—
rs121913357	140481403	C|T	ENSP00000419060	G77R	Path/3; L.Path/1; Un.S/0
rs180177033	140481420	A|C	ENSP00000419060	I71S	Path/1
rs397507473	140481405	A|G	ENSP00000419060	F76S	Path/2
rs121913371	140481478	G|A	ENSP00000419060	R52W	—
rs121913351	140481411	C|A	ENSP00000419060	G74V	Path/2
rs121913351		C|T	ENSP00000419060	G74E
rs121913355	140481402	C|G	ENSP00000419060	G77A	Path/5
rs121913355		C|A	ENSP00000419060	G77V
rs121913355		C|T	ENSP00000419060	G77E
rs180177036	140477853	C|G	ENSP00000419060	L93F	Path/2
rs180177037	140477813	T|C	ENSP00000419060	K107E	Path/2
rs180177038	140477807	C|T	ENSP00000419060	E109K	Path/3; L.Path/1
rs180177039	140477806	T|C	ENSP00000419060	E109G	Path/2; L.Path/1
rs397507479	140476811	C|T	ENSP00000419060	C140Y	Path/1; Un.S/1
rs180177040	140453987	T|G	ENSP00000419060	N189H	Path/2
rs180177040		T|C	ENSP00000419060	N189D
rs397507481	140454006	G|C	ENSP00000419060	H182Q	Path/1
rs121913341	140453150	A|C	ENSP00000419060	F203L	Path/2; L.Path/1
rs121913361	140453149	C|G	ENSP00000419060	G204R	Un.S/0
rs121913364	140453134	T|C	ENSP00000419060	K209E	Path/5
rs121913366	140453145	A|T	ENSP00000419060	L205Q	Path/1
rs121913366		A|C	ENSP00000419060	L205R
rs121913370	140453193	T|C	ENSP00000419060	N189S	L.Path/1
rs397507483	140453148	C|A	ENSP00000419060	G204V	Path/3
rs121913225	140453151	A|G	ENSP00000419060	F203S	—
rs121913337	140453153	A|T	ENSP00000419060	D202E	—
rs121913362	140453159	T|C	ENSP00000419060	I200M	—
rs372569965	140453127	C|T	ENSP00000419060	R211Q	—
rs180177042	140449165	A|T	ENSP00000419060	D246E	Path/2
rs397507485	14043972	C|T	ENSP00000419060	R279Q	Path/1
rs397507486	140439613	T|C	ENSP00000419060	Q317R	Path/1
rs397507487	140434543	G|A	ENSP00000419060	R327C	Path/1
rs200490285	140434452	G|T	ENSP00000419060	A357D	—
rs397507476	140477811	T|G	ENSP00000419060	K107N	Path/1
rs150050723	140534634	T|G	ENSP00000420119	Q78H	—
rs180177032	140481423	C|A	ENSP00000419060	R70I	Path/1
rs121913378	140453137	C|T	ENSP00000288602	V600M	L.Path/1
rs121913369	140453146	G|C	ENSP00000288602	L597V	Path/4
rs121913369		G|C	ENSP00000419060	L205V
rs121913378	140453137	C|T	ENSP00000419060	V208M	L.Path/1
rs397507481	140454006	G|C	ENSP00000418033	H2Q	Path/1

SNP ID refers to dbSNP. Ch7: location within chromosome number seven (assembly GRCh37/hg19). Clin/sig: clinical significance refers to ClinVar database; significant results could be one of the following: Path: pathogenic, benign; L.Path: likely pathogenic, or/and Un.S: unsignificant. Number after significant results refers to number of diseases that are associated with this SNP.