PMID: 27146902

Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Journal of translational medicine
A Dallol, A Buhmeida, MS Al-Ahwal, J Al-Maghrabi, O Bajouh, S Al-Khayyat, R Alam, A Abusanad, R Turki, A Elaimi, HA Alhadrami, M Abuzenadah, H Banni, MH Al-Qahtani, AM Abuzenadah
2016-05-04

234 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-108138003-T-C ATM c.2572T>C p.Phe858Leu Missense 17/63 -
17-7579406-G-C TP53 c.281C>G p.Ser94* Nonsense 4/11 -
17-7578416-C-T TP53 c.514G>A p.Val172Ile Missense 5/11 -
17-7578475-G-A TP53 c.455C>T p.Pro152Leu Missense 5/11 -
9-139390873-G-A NOTCH1 c.7318C>T p.Gln2440* Nonsense 34/34 -
17-7577562-C-T TP53 c.719G>A p.Ser240Asn Missense 7/11 -
5-112175147-G-T APC c.3856G>T p.Glu1286* Nonsense 16/16 -
17-7578428-G-A TP53 c.502C>T p.His168Tyr Missense 5/11 -
18-48584603-C-T SMAD4 c.776C>T p.Thr259Ile Missense 6/12 -
22-24145550-G-A SMARCB1 c.569G>A p.Arg190Gln Missense 5/9 -
10-43609928-A-G RET c.1880A>G p.Asp627Gly Missense 11/20 -
10-89711899-C-T PTEN c.517C>T p.Arg173Cys Missense 6/9 -
7-55211083-G-A EGFR c.326G>A p.Gly109Glu Missense 3/28 -
17-7577523-G-A TP53 c.758C>T p.Thr253Ile Missense 7/11 -
7-55242502-G-A EGFR c.2272G>A p.Glu758Lys Missense 19/28 -
7-55241638-G-C EGFR c.2086G>C p.Gly696Arg Missense 18/28 -
5-112176017-G-A APC c.4726G>A p.Glu1576Lys Missense 16/16 -
5-112175426-G-T APC c.4135G>T p.Glu1379* Nonsense 16/16 -
3-178952088-A-G PIK3CA c.3143A>G p.His1048Arg Missense 21/21 -
10-89717738-G-A PTEN c.763G>A p.Val255Ile Missense 7/9 -
19-1221312-G-C STK11 c.835G>C p.Gly279Arg Missense 6/10 -
10-89692905-G-A PTEN c.389G>A p.Arg130Gln Missense 5/9 -
7-128846374-G-A SMO c.1210G>A p.Val404Met Missense 6/12 -
17-7579442-G-A TP53 c.245C>T p.Pro82Leu Missense 4/11 -
17-37881440-C-T ERBB2 c.2632C>T p.His878Tyr Missense 21/27 -
7-55241713-G-A EGFR c.2161G>A p.Gly721Ser Missense 18/28 -
5-112175411-G-T APC c.4120G>T p.Glu1374* Nonsense 16/16 -
13-49033910-C-T RB1 c.2047C>T p.Leu683Phe Missense 20/27 -
19-1223125-C-G STK11 c.1062C>G p.Phe354Leu Missense 8/10 -
3-41266039-G-T CTNNB1 c.36G>T p.Met12Ile Missense 3/16 -
3-41266039-G-C CTNNB1 c.36G>C p.Met12Ile Missense 3/16 -
3-41266039-G-A CTNNB1 c.36G>A p.Met12Ile Missense 3/16 -
3-178952141-G-A PIK3CA c.3196G>A p.Ala1066Thr Missense 21/21 -
17-7578535-T-C TP53 c.395A>G p.Lys132Arg Missense 5/11 -
17-7577033-C-T TP53 c.905G>A p.Gly302Glu Missense 8/11 -
17-7578542-G-T TP53 c.388C>A p.Leu130Ile Missense 5/11 -
17-7577108-C-A TP53 c.830G>T p.Cys277Phe Missense 8/11 -
17-7577085-C-T TP53 c.853G>A p.Glu285Lys Missense 8/11 -
5-112175358-C-A APC c.4067C>A p.Ser1356* Nonsense 16/16 -
9-139390879-G-A NOTCH1 c.7312C>T p.Pro2438Ser Missense 34/34 -
3-178936093-G-T PIK3CA c.1635G>T p.Glu545Asp Missense 10/21 -
4-55141041-G-A PDGFRA c.1687G>A p.Glu563Lys Missense 12/23 -
12-25398255-G-T KRAS c.64C>A p.Gln22Lys Missense 2/6 -
3-37067231-A-G MLH1 c.1142A>G p.His381Arg Missense 12/19 -
17-7577561-A-C TP53 c.720T>G p.Ser240Arg Missense 7/11 -
17-7577561-A-T TP53 c.720T>A p.Ser240Arg Missense 7/11 -
3-178952012-C-T PIK3CA c.3067C>T p.Arg1023* Nonsense 21/21 -
3-10191489-G-A VHL c.482G>A p.Arg161Gln Missense 3/3 -
17-7577605-C-T TP53 c.676G>A p.Gly226Ser Missense 7/11 -
17-7578419-C-T TP53 c.511G>A p.Glu171Lys Missense 5/11 -
4-55561719-C-T KIT c.109C>T p.Pro37Ser Missense 2/21 -
3-41266067-G-A CTNNB1 c.64G>A p.Val22Ile Missense 3/16 -
1-43814981-G-A MPL c.1516G>A p.Ala506Thr Missense 10/12 -
10-89711876-G-A PTEN c.494G>A p.Gly165Glu Missense 6/9 -
10-43609097-G-A RET c.1853G>A p.Cys618Tyr Missense 10/20 -
10-89692893-C-T PTEN c.377C>T p.Ala126Val Missense 5/9 -
7-116340262-A-G MET c.1124A>G p.Asn375Ser Missense 2/21 -
3-178916936-G-A PIK3CA c.323G>A p.Arg108His Missense 2/21 -
18-48591919-G-A SMAD4 c.1082G>A p.Arg361His Missense 9/12 -
17-7578437-G-A TP53 c.493C>T p.Gln165* Nonsense 5/11 -
13-49033902-T-C RB1 c.2039T>C p.Ile680Thr Missense 20/27 -
7-55242466-G-A EGFR c.2236G>A p.Glu746Lys Missense 19/28 -
17-37880993-G-C ERBB2 c.2322G>C p.Met774Ile Missense 20/27 -
16-68847274-C-T CDH1 c.1196C>T p.Thr399Ile Missense 9/16 -
17-7577142-C-T TP53 c.796G>A p.Gly266Arg Missense 8/11 -
17-7577142-C-G TP53 c.796G>C p.Gly266Arg Missense 8/11 -
3-178921533-C-A PIK3CA c.1015C>A p.Leu339Ile Missense 5/21 -
17-7577040-G-A TP53 c.898C>T p.Pro300Ser Missense 8/11 -
3-178916876-G-A PIK3CA c.263G>A p.Arg88Gln Missense 2/21 -
5-112176020-G-T APC c.4729G>T p.Glu1577* Nonsense 16/16 -
17-7574021-C-T TP53 c.1006G>A p.Glu336Lys Missense 10/11 -
10-89692859-G-A PTEN c.343G>A p.Asp115Asn Missense 5/9 -
17-7578427-T-G TP53 c.503A>C p.His168Pro Missense 5/11 -
3-178936096-G-T PIK3CA c.1638G>T p.Gln546His Missense 10/21 -
17-7579414-C-T TP53 c.273G>A p.Trp91* Nonsense 4/11 -
4-55946119-G-A KDR c.4060C>T p.Pro1354Ser Missense 30/30 -
17-7578205-C-T TP53 c.644G>A p.Ser215Asn Missense 6/11 -
17-7577097-C-T TP53 c.841G>A p.Asp281Asn Missense 8/11 -
19-1220400-G-A STK11 c.493G>A p.Glu165Lys Missense 4/10 -
17-7578469-C-T TP53 c.461G>A p.Gly154Asp Missense 5/11 -
17-7579445-G-A TP53 c.242C>T p.Thr81Ile Missense 4/11 -
17-7578412-A-G TP53 c.518T>C p.Val173Ala Missense 5/11 -
7-55242493-G-A EGFR c.2263G>A p.Ala755Thr Missense 19/28 -
17-7578525-G-T TP53 c.405C>A p.Cys135* Nonsense 5/11 -
5-112175187-C-T APC c.3896C>T p.Ala1299Val Missense 16/16 -
4-55955111-C-T KDR c.3434G>A p.Gly1145Glu Missense 26/30 -
17-7579389-G-A TP53 c.298C>T p.Gln100* Nonsense 4/11 -
17-7577079-C-T TP53 c.859G>A p.Glu287Lys Missense 8/11 -
17-7579358-C-A TP53 c.329G>T p.Arg110Leu Missense 4/11 -
7-55259530-G-A EGFR c.2588G>A p.Gly863Asp Missense 21/28 -
17-7579427-G-A TP53 c.260C>T p.Pro87Leu Missense 4/11 -
10-89692887-G-A PTEN c.371G>A p.Cys124Tyr Missense 5/9 -
17-7577563-T-G TP53 c.718A>C p.Ser240Arg Missense 7/11 -
4-55141012-C-T PDGFRA c.1658C>T p.Pro553Leu Missense 12/23 -
3-10191507-G-A VHL c.500G>A p.Arg167Gln Missense 3/3 -
10-43615622-G-A RET c.2701G>A p.Glu901Lys Missense 15/20 -
17-7578187-T-C TP53 c.662A>G p.Glu221Gly Missense 6/11 -
11-533869-C-T HRAS c.187G>A p.Glu63Lys Missense 3/6 -
18-48584560-C-T SMAD4 c.733C>T p.Gln245* Nonsense 6/12 -
7-128846398-C-T SMO c.1234C>T p.Leu412Phe Missense 6/12 -
10-89717712-C-T PTEN c.737C>T p.Pro246Leu Missense 7/9 -
19-17948010-C-T JAK3 c.1714G>A p.Ala572Thr Missense 13/24 -
17-7578253-C-T TP53 c.596G>A p.Gly199Glu Missense 6/11 -
10-89711893-C-T PTEN c.511C>T p.Gln171* Nonsense 6/9 -
17-7578371-C-T TP53 c.559G>A p.Gly187Ser Missense 5/11 -
4-55593648-G-A KIT c.1714G>A p.Asp572Asn Missense 11/21 -
5-112175607-C-T APC c.4316C>T p.Pro1439Leu Missense 16/16 -
10-89720864-C-T PTEN c.1015C>T p.Pro339Ser Missense 8/9 -
17-7578520-A-T TP53 c.410T>A p.Leu137Gln Missense 5/11 -
10-89624296-G-A PTEN c.70G>A p.Asp24Asn Missense 1/9 -
3-178936074-C-A PIK3CA c.1616C>A p.Pro539His Missense 10/21 -
5-112175672-G-A APC c.4381G>A p.Glu1461Lys Missense 16/16 -
7-128851576-C-T SMO c.1901C>T p.Pro634Leu Missense 11/12 -
17-7578385-C-T TP53 c.545G>A p.Cys182Tyr Missense 5/11 -
19-17948006-G-A JAK3 c.1718C>T p.Ala573Val Missense 13/24 -
17-7577022-G-A TP53 c.916C>T p.Arg306* Nonsense 8/11 -
9-21970985-C-T CDKN2A c.373G>A p.Asp125Asn Missense 2/3 -
17-7577138-C-T TP53 c.800G>A p.Arg267Gln Missense 8/11 -
17-7578401-G-A TP53 c.529C>T p.Pro177Ser Missense 5/11 -
17-7577127-C-T TP53 c.811G>A p.Glu271Lys Missense 8/11 -
7-55259533-C-T EGFR c.2591C>T p.Ala864Val Missense 21/28 -
17-7577132-C-T TP53 c.806G>A p.Ser269Asn Missense 8/11 -
17-7578413-C-T TP53 c.517G>A p.Val173Met Missense 5/11 -
17-37880993-G-A ERBB2 c.2322G>A p.Met774Ile Missense 20/27 -
17-7578203-C-T TP53 c.646G>A p.Val216Met Missense 6/11 -
17-7577039-G-A TP53 c.899C>T p.Pro300Leu Missense 8/11 -
16-68846054-C-T CDH1 c.1025C>T p.Thr342Ile Missense 8/16 -
17-7577545-T-C TP53 c.736A>G p.Met246Val Missense 7/11 -
17-7579473-G-A TP53 c.214C>T p.Pro72Ser Missense 4/11 -
17-7579473-G-C TP53 c.214C>G p.Pro72Ala Missense 4/11 -
17-37880993-G-T ERBB2 c.2322G>T p.Met774Ile Missense 20/27 -
7-55259560-G-A EGFR c.2618G>A p.Gly873Glu Missense 21/28 -
17-7577509-C-G TP53 c.772G>C p.Glu258Gln Missense 7/11 -
5-112173897-A-C APC c.2606A>C p.Asn869Thr Missense 16/16 -
10-89711891-G-A PTEN c.509G>A p.Ser170Asn Missense 6/9 -
3-41266049-C-T CTNNB1 c.46C>T p.Pro16Ser Missense 3/16 -
17-7578217-G-A TP53 c.632C>T p.Thr211Ile Missense 6/11 -
9-139399350-C-T NOTCH1 c.4793G>A p.Arg1598His Missense 26/34 -
17-7577580-T-C TP53 c.701A>G p.Tyr234Cys Missense 7/11 -
18-48604770-G-A SMAD4 c.1592G>A p.Arg531Gln Missense 12/12 -
7-55242422-G-A EGFR c.2192G>A p.Trp731* Nonsense 19/28 -
1-43815020-G-A MPL c.1555G>A p.Ala519Thr Missense 10/12 -
17-7579481-G-A TP53 c.206C>T p.Ala69Val Missense 4/11 -
10-89717741-G-A PTEN c.766G>A p.Glu256Lys Missense 7/9 -
4-55561756-G-A KIT c.146G>A p.Arg49His Missense 2/21 -
10-89624242-A-G PTEN c.16A>G p.Lys6Glu Missense 1/9 -
7-55259514-C-A EGFR c.2572C>A p.Leu858Met Missense 21/28 -
5-112174631-C-T APC c.3340C>T p.Arg1114* Nonsense 16/16 -
17-7578463-C-T TP53 c.467G>A p.Arg156His Missense 5/11 -
9-21970975-C-T CDKN2A c.383G>A p.Arg128Gln Missense 2/3 -
5-112175639-C-T APC c.4348C>T p.Arg1450* Nonsense 16/16 -
17-7579391-G-A TP53 c.296C>T p.Ser99Phe Missense 4/11 -
17-7577124-C-T TP53 c.814G>A p.Val272Met Missense 8/11 -
5-112175216-G-T APC c.3925G>T p.Glu1309* Nonsense 16/16 -
17-7577550-C-T TP53 c.731G>A p.Gly244Asp Missense 7/11 -
5-112175760-A-T APC c.4469A>T p.His1490Leu Missense 16/16 -
17-7578461-C-T TP53 c.469G>A p.Val157Ile Missense 5/11 -
11-108119823-T-C ATM c.1229T>C p.Val410Ala Missense 9/63 -
3-178952076-A-G PIK3CA c.3131A>G p.Asn1044Ser Missense 21/21 -
17-7578263-G-A TP53 c.586C>T p.Arg196* Nonsense 6/11 -
12-25398287-G-A KRAS c.32C>T p.Ala11Val Missense 2/6 -
1-43815021-C-T MPL c.1556C>T p.Ala519Val Missense 10/12 -
17-7577568-C-T TP53 c.713G>A p.Cys238Tyr Missense 7/11 -
17-7578212-G-A TP53 c.637C>T p.Arg213* Nonsense 6/11 -
17-7578245-G-A TP53 c.604C>T p.Arg202Cys Missense 6/11 -
3-178936092-A-G PIK3CA c.1634A>G p.Glu545Gly Missense 10/21 -
18-48604674-G-A SMAD4 c.1496G>A p.Cys499Tyr Missense 12/12 -
18-48584569-C-T SMAD4 c.742C>T p.Gln248* Nonsense 6/12 -
17-37881359-G-A ERBB2 c.2551G>A p.Val851Met Missense 21/27 -
17-7577538-CG-GA TP53 c.742_743delCGinsGA p.Arg248Glu Missense 7/11 -
18-48575209-C-T SMAD4 c.403C>T p.Arg135* Nonsense 3/12 -
17-7579400-G-A TP53 c.287C>T p.Ser96Phe Missense 4/11 -
17-7578395-G-A TP53 c.535C>T p.His179Tyr Missense 5/11 -
18-48591825-G-A SMAD4 c.988G>A p.Glu330Lys Missense 9/12 -
17-7577141-C-T TP53 c.797G>A p.Gly266Glu Missense 8/11 -
17-7579406-G-T TP53 c.281C>A p.Ser94* Nonsense 4/11 -
7-140481402-C-A BRAF c.1406G>T p.Gly469Val Missense 11/18 -
5-112175390-C-T APC c.4099C>T p.Gln1367* Nonsense 16/16 -
7-55241647-C-T EGFR c.2095C>T p.Pro699Ser Missense 18/28 -
5-112175754-T-G APC c.4463T>G p.Leu1488* Nonsense 16/16 -
3-41266113-C-T CTNNB1 c.110C>T p.Ser37Phe Missense 3/16 -
18-48575105-G-T SMAD4 c.299G>T p.Arg100Met Missense 3/12 -
12-25398279-C-T KRAS c.40G>A p.Val14Ile Missense 2/6 -
17-7577595-C-T TP53 c.686G>A p.Cys229Tyr Missense 7/11 -
5-112175370-C-A APC c.4079C>A p.Ser1360Tyr Missense 16/16 -
17-7577114-C-A TP53 c.824G>T p.Cys275Phe Missense 8/11 -
3-178921567-A-G PIK3CA c.1049A>G p.Asp350Gly Missense 5/21 -
17-7578479-G-T TP53 c.451C>A p.Pro151Thr Missense 5/11 -
13-28608251-T-C FLT3 c.1805A>G p.Lys602Arg Missense 14/24 -
17-7578461-C-A TP53 c.469G>T p.Val157Phe Missense 5/11 -
10-89692844-C-T PTEN c.328C>T p.Gln110* Nonsense 5/9 -
5-112175342-G-A APC c.4051G>A p.Ala1351Thr Missense 16/16 -
19-1220418-G-A STK11 c.511G>A p.Gly171Ser Missense 4/10 -
3-178921553-T-A PIK3CA c.1035T>A p.Asn345Lys Missense 5/21 -
2-212530073-G-A ERBB4 c.1846C>T p.Pro616Ser Missense 15/27 -
10-43617430-C-T RET c.2767C>T p.Leu923Phe Missense 16/20 -
17-7578394-T-C TP53 c.536A>G p.His179Arg Missense 5/11 -
17-7578470-C-T TP53 c.460G>A p.Gly154Ser Missense 5/11 -
17-7577102-C-T TP53 c.836G>A p.Gly279Glu Missense 8/11 -
17-37881392-A-G ERBB2 c.2584A>G p.Thr862Ala Missense 21/27 -
17-7578191-A-T TP53 c.658T>A p.Tyr220Asn Missense 6/11 -
10-89624245-G-T PTEN c.19G>T p.Glu7* Nonsense 1/9 -
17-7579394-G-A TP53 c.293C>T p.Pro98Leu Missense 4/11 -
7-55242482-C-T EGFR c.2252C>T p.Thr751Ile Missense 19/28 -
13-28608247-C-T FLT3 c.1809G>A p.Trp603* Nonsense 14/24 -
14-105246455-C-T AKT1 c.145G>A p.Glu49Lys Missense 3/14 -
9-139399341-T-A NOTCH1 c.4802A>T p.His1601Leu Missense 26/34 -
18-48591891-G-A SMAD4 c.1054G>A p.Gly352Arg Missense 9/12 -
3-178927980-T-C PIK3CA c.1258T>C p.Cys420Arg Missense 8/21 -
17-7578433-G-A TP53 c.497C>T p.Ser166Leu Missense 5/11 -
4-55979637-C-A KDR c.810G>T p.Lys270Asn Missense 7/30 -
4-55979637-C-G KDR c.810G>C p.Lys270Asn Missense 7/30 -
13-28608248-C-T FLT3 c.1808G>A p.Trp603* Nonsense 14/24 -
17-7578449-C-T TP53 c.481G>A p.Ala161Thr Missense 5/11 -
4-55561764-G-A KIT c.154G>A p.Asp52Asn Missense 2/21 -
10-43615572-A-T RET c.2651A>T p.Glu884Val Missense 15/20 -
17-7577069-C-T TP53 c.869G>A p.Arg290His Missense 8/11 -
9-21971063-G-A CDKN2A c.295C>T p.Arg99Trp Missense 2/3 -
5-112175423-C-T APC c.4132C>T p.Gln1378* Nonsense 16/16 -
13-28610153-G-A FLT3 c.1337C>T p.Ser446Leu Missense 11/24 -
9-21971096-C-T CDKN2A c.262G>A p.Glu88Lys Missense 2/3 -
17-7578406-C-A TP53 c.524G>T p.Arg175Leu Missense 5/11 -
5-112175211-T-A APC c.3920T>A p.Ile1307Lys Missense 16/16 -
3-10188251-C-T VHL c.394C>T p.Gln132* Nonsense 2/3 -
11-108218017-C-G ATM c.8596C>G p.Leu2866Val Missense 59/63 -
9-133748283-C-T ABL1 c.1001C>T p.Thr334Ile Missense 6/11 -
17-7578382-G-A TP53 c.548C>T p.Ser183Leu Missense 5/11 -
18-48591865-C-G SMAD4 c.1028C>G p.Ser343* Nonsense 9/12 -
3-178952018-A-G PIK3CA c.3073A>G p.Thr1025Ala Missense 21/21 -
17-7579436-G-A TP53 c.251C>T p.Ala84Val Missense 4/11 -
17-7579403-G-A TP53 c.284C>T p.Ser95Phe Missense 4/11 -
5-112173917-C-T APC c.2626C>T p.Arg876* Nonsense 16/16 -
17-7578442-T-C TP53 c.488A>G p.Tyr163Cys Missense 5/11 -
7-55241638-G-A EGFR c.2086G>A p.Gly696Arg Missense 18/28 -