Gene Name	HGNC ID	COSMIC_MutID	Primary site	Primary histology	AA-Mutation	Mutation Type	Genomic Position	FATHMM prediction	FATHMM score	Literature evidence
TGFBR1	11772	COSM6800764,	large_intestine	carcinoma	p.R414Q	Substitution - Missense	9:99146595-99146595,	PATHOGENIC	0.99818	28481359
TGFBR1	11772	COSM6927532,	skin	carcinoma	p.G419R	Substitution - Missense	9:99146609-99146609,	PATHOGENIC	0.99815	28481359
TGFBR1	11772	COSM6948020,	urinary_tract	carcinoma	p.D269N	Substitution - Missense	9:99138089-99138089,	PATHOGENIC	0.99802	28481359
TGFBR1	11772	COSM6969014,	thyroid	carcinoma	p.G374A	Substitution - Missense	9:99144879-99144879,	PATHOGENIC	0.99556	28481359
TGFBR1	11772	COSM6986803,	urinary_tract	carcinoma	p.E394Q	Substitution - Missense	9:99146534-99146534,	PATHOGENIC	0.99462	28481359
TGFBR1	11772	COSM4733371,	NS	carcinoma	p.G192C	Substitution - Missense	9:99132739-99132739,	PATHOGENIC	0.99455	28481359
TGFBR1	11772	COSM6968850,	pancreas	carcinoma	p.G192S	Substitution - Missense	9:99132739-99132739,	PATHOGENIC	0.99366	28481359
TGFBR1	11772	COSM6931838,	central_nervous_system	glioma	p.G188D	Substitution - Missense	9:99132728-99132728,	PATHOGENIC	0.99366	28481359
TGFBR1	11772	COSM6974722,	large_intestine	carcinoma	p.D333Y	Substitution - Missense	9:99144755-99144755,	PATHOGENIC	0.99363	28481359
TGFBR1	11772	COSM6947177,	large_intestine	carcinoma	p.G353V	Substitution - Missense	9:99144816-99144816,	PATHOGENIC	0.99363	28481359
TGFBR1	11772	COSM6947177,	lung	carcinoma	p.G353V	Substitution - Missense	9:99144816-99144816,	PATHOGENIC	0.99363	28481359
TGFBR1	11772	COSM607136,	skin	carcinoma	p.S416F	Substitution - Missense	9:99146601-99146601,	PATHOGENIC	0.99354	28481359
TGFBR1	11772	COSM6912355,	NS	carcinoma	p.?	Unknown	9:99146484-99146484,	PATHOGENIC	0.99328	28481359
TGFBR1	11772	COSM6946253,	large_intestine	carcinoma	p.R398H	Substitution - Missense	9:99146547-99146547,	PATHOGENIC	0.9931	28481359
TGFBR1	11772	COSM6918888,	large_intestine	carcinoma	p.T375R	Substitution - Missense	9:99144882-99144882,	PATHOGENIC	0.99272	28481359
TGFBR1	11772	COSM1635939,	endometrium	carcinoma	p.R487Q	Substitution - Missense	9:99149253-99149253,	PATHOGENIC	0.99251	28481359
TGFBR1	11772	COSM1635939,	urinary_tract	carcinoma	p.R487Q	Substitution - Missense	9:99149253-99149253,	PATHOGENIC	0.99251	28481359
TGFBR1	11772	COSM6961805,	small_intestine	carcinoma	p.T375K	Substitution - Missense	9:99144882-99144882,	PATHOGENIC	0.9923	28481359
TGFBR1	11772	COSM221365,	pancreas	carcinoma	p.G312V	Substitution - Missense	9:99142665-99142665,	PATHOGENIC	0.9915	28481359
TGFBR1	11772	COSM6987278,	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	p.G261E	Substitution - Missense	9:99138066-99138066,	PATHOGENIC	0.99117	28481359
TGFBR1	11772	COSM6968581,	pancreas	carcinoma	p.N338I	Substitution - Missense	9:99144771-99144771,	PATHOGENIC	0.99097	28481359
TGFBR1	11772	COSM6940805,	prostate	carcinoma	p.D359G	Substitution - Missense	9:99144834-99144834,	PATHOGENIC	0.99093	28481359
TGFBR1	11772	COSM6965150,	lung	carcinoma	p.G52V	Substitution - Missense	9:99128912-99128912,	PATHOGENIC	0.99084	28481359
TGFBR1	11772	COSM6909847,	NS	carcinoma	p.W273*	Substitution - Nonsense	9:99142549-99142549,	PATHOGENIC	0.99042	28481359
TGFBR1	11772	COSM6929520,	urinary_tract	carcinoma	p.G301E	Substitution - Missense	9:99142632-99142632,	PATHOGENIC	0.99042	28481359
TGFBR1	11772	COSM6930847,	large_intestine	carcinoma	p.T375I	Substitution - Missense	9:99144882-99144882,	PATHOGENIC	0.9903	28481359
TGFBR1	11772	COSM6925088,	lung	carcinoma	p.S336*	Substitution - Nonsense	9:99144765-99144765,	PATHOGENIC	0.99012	28481359
TGFBR1	11772	COSM6951334,	lung	carcinoma	p.M253I	Substitution - Missense	9:99138043-99138043,	PATHOGENIC	0.98951	28481359
TGFBR1	11772	COSM6944657,	urinary_tract	carcinoma	p.S360*	Substitution - Nonsense	9:99144837-99144837,	PATHOGENIC	0.98947	28481359
TGFBR1	11772	COSM6918290,	large_intestine	carcinoma	p.P159S	Substitution - Missense	9:99132640-99132640,	PATHOGENIC	0.98906	28481359
TGFBR1	11772	COSM6955110,	large_intestine	carcinoma	p.G345E	Substitution - Missense	9:99144792-99144792,	PATHOGENIC	0.9886	28481359
TGFBR1	11772	COSM6961651,	large_intestine	carcinoma	p.G212D	Substitution - Missense	9:99137919-99137919,	PATHOGENIC	0.98824	28481359
TGFBR1	11772	COSM6942368,	upper_aerodigestive_tract	carcinoma	p.E227K	Substitution - Missense	9:99137963-99137963,	PATHOGENIC	0.98824	28481359
TGFBR1	11772	COSM6962928,	lung	carcinoma	p.G222E	Substitution - Missense	9:99137949-99137949,	PATHOGENIC	0.98824	28481359
TGFBR1	11772	COSM6918218,	large_intestine	carcinoma	p.A403V	Substitution - Missense	9:99146562-99146562,	PATHOGENIC	0.98776	28481359
TGFBR1	11772	COSM1458896,	pancreas	carcinoma	p.H283R	Substitution - Missense	9:99142578-99142578,	PATHOGENIC	0.98768	28481359
TGFBR1	11772	COSM6913769,	skin	carcinoma	p.G479E	Substitution - Missense	9:99149229-99149229,	PATHOGENIC	0.98765	28481359
TGFBR1	11772	COSM6973738,	urinary_tract	carcinoma	p.S287C	Substitution - Missense	9:99142590-99142590,	PATHOGENIC	0.9868	28481359
TGFBR1	11772	COSM6966142,	skin	malignant_melanoma	p.E161K	Substitution - Missense	9:99132646-99132646,	PATHOGENIC	0.98666	28481359
TGFBR1	11772	COSM6959141,	large_intestine	carcinoma	p.Y182C	Substitution - Missense	9:99132710-99132710,	PATHOGENIC	0.98647	28481359
TGFBR1	11772	COSM1755841,	upper_aerodigestive_tract	carcinoma	p.R157*	Substitution - Nonsense	9:99132634-99132634,	PATHOGENIC	0.98626	28481359
TGFBR1	11772	COSM1755841,	endometrium	carcinoma	p.R157*	Substitution - Nonsense	9:99132634-99132634,	PATHOGENIC	0.98626	28481359
TGFBR1	11772	COSM6937138,	central_nervous_system	glioma	p.T491I	Substitution - Missense	9:99149265-99149265,	PATHOGENIC	0.98586	28481359
TGFBR1	11772	COSM1458899,	pancreas	carcinoma	p.R413*	Substitution - Nonsense	9:99146591-99146591,	PATHOGENIC	0.98544	28481359
TGFBR1	11772	COSM6979471,	pancreas	carcinoma	p.E245V	Substitution - Missense	9:99138018-99138018,	PATHOGENIC	0.98488	28481359
TGFBR1	11772	COSM6956120,	lung	carcinoma	p.E247V	Substitution - Missense	9:99138024-99138024,	PATHOGENIC	0.98488	28481359
TGFBR1	11772	COSM6917288,	breast	carcinoma	p.D363N	Substitution - Missense	9:99144845-99144845,	PATHOGENIC	0.98376	28481359
TGFBR1	11772	COSM6941365,	large_intestine	carcinoma	p.S236Y	Substitution - Missense	9:99137991-99137991,	PATHOGENIC	0.98272	28481359
TGFBR1	11772	COSM6927727,	testis	germ_cell_tumour	p.D104Y	Substitution - Missense	9:99129067-99129067,	PATHOGENIC	0.98247	28481359
TGFBR1	11772	COSM6927727,	lung	carcinoma	p.D104Y	Substitution - Missense	9:99129067-99129067,	PATHOGENIC	0.98247	28481359
TGFBR1	11772	COSM5490603,	biliary_tract	carcinoma	p.P83L	Substitution - Missense	9:99129005-99129005,	PATHOGENIC	0.98233	29360550
TGFBR1	11772	COSM6979506,	endometrium	carcinoma	p.T50I	Substitution - Missense	9:99128906-99128906,	PATHOGENIC	0.98233	28481359
TGFBR1	11772	COSM5490603,	large_intestine	carcinoma	p.P83L	Substitution - Missense	9:99129005-99129005,	PATHOGENIC	0.98233	28481359
TGFBR1	11772	COSM5494494,	urinary_tract	carcinoma	p.P79S	Substitution - Missense	9:99128992-99128992,	PATHOGENIC	0.98233	28481359
TGFBR1	11772	COSM5490603,	ovary	carcinoma	p.P83L	Substitution - Missense	9:99129005-99129005,	PATHOGENIC	0.98233	28481359
TGFBR1	11772	COSM6958080,	lung	carcinoma	p.K489N	Substitution - Missense	9:99149260-99149260,	PATHOGENIC	0.98179	28481359
TGFBR1	11772	COSM3166656,	pancreas	carcinoma	p.Q275*	Substitution - Nonsense	9:99142553-99142553,	PATHOGENIC	0.98156	28481359
TGFBR1	11772	COSM3902538,	endometrium	carcinoma	p.S287F	Substitution - Missense	9:99142590-99142590,	PATHOGENIC	0.98156	28481359
TGFBR1	11772	COSM5359628,	large_intestine	carcinoma	p.R151C	Substitution - Missense	9:99132616-99132616,	PATHOGENIC	0.98083	28481359
TGFBR1	11772	COSM6948977,	large_intestine	carcinoma	p.C36R	Substitution - Missense	9:99128863-99128863,	PATHOGENIC	0.98051	28481359
TGFBR1	11772	COSM6958602,	pancreas	carcinoma	p.V229D	Substitution - Missense	9:99137970-99137970,	PATHOGENIC	0.97916	28481359
TGFBR1	11772	COSM277669,	stomach	carcinoma	p.S241L	Substitution - Missense	9:99138006-99138006,	PATHOGENIC	0.97748	28481359
TGFBR1	11772	COSM277669,	biliary_tract	carcinoma	p.S241L	Substitution - Missense	9:99138006-99138006,	PATHOGENIC	0.97748	28481359
TGFBR1	11772	COSM277669,	large_intestine	carcinoma	p.S241L	Substitution - Missense	9:99138006-99138006,	PATHOGENIC	0.97748	28481359
TGFBR1	11772	COSM277669,	endometrium	carcinoma	p.S241L	Substitution - Missense	9:99138006-99138006,	PATHOGENIC	0.97748	28481359
TGFBR1	11772	COSM277669,	large_intestine	carcinoma	p.S241L	Substitution - Missense	9:99138006-99138006,	PATHOGENIC	0.97748	28481359
TGFBR1	11772	COSM277669,	large_intestine	carcinoma	p.S241L	Substitution - Missense	9:99138006-99138006,	PATHOGENIC	0.97748	28481359
TGFBR1	11772	COSM6972935,	skin	carcinoma	p.S235F	Substitution - Missense	9:99137988-99137988,	PATHOGENIC	0.97748	28481359
TGFBR1	11772	COSM277669,	large_intestine	carcinoma	p.S241L	Substitution - Missense	9:99138006-99138006,	PATHOGENIC	0.97748	28481359
TGFBR1	11772	COSM277669,	pancreas	carcinoma	p.S241L	Substitution - Missense	9:99138006-99138006,	PATHOGENIC	0.97748	28481359
TGFBR1	11772	COSM285682,	stomach	carcinoma	p.A202V	Substitution - Missense	9:99137889-99137889,	PATHOGENIC	0.9774	28481359
TGFBR1	11772	COSM1103192,	skin	malignant_melanoma	p.P194S	Substitution - Missense	9:99137864-99137864,	PATHOGENIC	0.9774	28481359
TGFBR1	11772	COSM285682,	large_intestine	carcinoma	p.A202V	Substitution - Missense	9:99137889-99137889,	PATHOGENIC	0.9774	28481359
TGFBR1	11772	COSM285682,	lung	carcinoma	p.A202V	Substitution - Missense	9:99137889-99137889,	PATHOGENIC	0.9774	28481359
TGFBR1	11772	COSM6946860,	NS	carcinoma	p.Q250*	Substitution - Nonsense	9:99138032-99138032,	PATHOGENIC	0.97728	28481359
TGFBR1	11772	COSM6907044,	biliary_tract	carcinoma	p.L193S	Substitution - Missense	9:99137862-99137862,	PATHOGENIC	0.97639	28481359
TGFBR1	11772	COSM6962629,	upper_aerodigestive_tract	carcinoma	p.M441I	Substitution - Missense	9:99147721-99147721,	PATHOGENIC	0.97516	28481359
TGFBR1	11772	COSM6945606,	kidney	carcinoma	p.Q497*	Substitution - Nonsense	9:99149282-99149282,	PATHOGENIC	0.97471	28481359
TGFBR1	11772	COSM6958279,	biliary_tract	carcinoma	p.D104V	Substitution - Missense	9:99129068-99129068,	PATHOGENIC	0.97401	28481359
TGFBR1	11772	COSM6954101,	lung	carcinoma	p.S57C	Substitution - Missense	9:99128927-99128927,	PATHOGENIC	0.9709	28481359
TGFBR1	11772	COSM6926674,	lung	carcinoma	p.E439K	Substitution - Missense	9:99147713-99147713,	PATHOGENIC	0.97067	28481359
TGFBR1	11772	COSM6984295,	endometrium	carcinoma	p.W458*	Substitution - Nonsense	9:99147772-99147772,	PATHOGENIC	0.97067	28481359
TGFBR1	11772	COSM6984903,	large_intestine	carcinoma	p.W458*	Substitution - Nonsense	9:99147771-99147771,	PATHOGENIC	0.97067	28481359
TGFBR1	11772	COSM6928974,	central_nervous_system	glioma	p.D423N	Substitution - Missense	9:99147665-99147665,	PATHOGENIC	0.97066	28481359
TGFBR1	11772	COSM6953173,	urinary_tract	carcinoma	p.E422K	Substitution - Missense	9:99147662-99147662,	PATHOGENIC	0.97066	28481359
TGFBR1	11772	COSM4733370,	lung	carcinoma	p.E110*	Substitution - Nonsense	9:99129085-99129085,	PATHOGENIC	0.96831	28481359
TGFBR1	11772	COSM6943950,	urinary_tract	carcinoma	p.L313V	Substitution - Missense	9:99142667-99142667,	PATHOGENIC	0.9676	28481359
TGFBR1	11772	COSM6913101,	eye	malignant_melanoma	p.T309M	Substitution - Missense	9:99142656-99142656,	PATHOGENIC	0.96053	28481359
TGFBR1	11772	COSM6937220,	skin	carcinoma	p.L384F	Substitution - Missense	9:99146504-99146504,	PATHOGENIC	0.95978	28481359
TGFBR1	11772	COSM6909750,	urinary_tract	carcinoma	p.I401M	Substitution - Missense	9:99146557-99146557,	PATHOGENIC	0.95316	28481359
TGFBR1	11772	COSM6918055,	large_intestine	carcinoma	p.Q459*	Substitution - Nonsense	9:99147773-99147773,	PATHOGENIC	0.95279	28481359
TGFBR1	11772	COSM3663973,	liver	carcinoma	p.P427S	Substitution - Missense	9:99147677-99147677,	PATHOGENIC	0.95268	Info_not_available
TGFBR1	11772	COSM4463063,	skin	carcinoma	p.Q425*	Substitution - Nonsense	9:99147671-99147671,	PATHOGENIC	0.95268	28481359
TGFBR1	11772	COSM3166648,	NS	carcinoma	p.R151H	Substitution - Missense	9:99132617-99132617,	PATHOGENIC	0.9456	28481359
TGFBR1	11772	COSM199708,	skin	carcinoma	p.R487W	Substitution - Missense	9:99149252-99149252,	PATHOGENIC	0.94378	28481359
TGFBR1	11772	COSM199708,	skin	carcinoma	p.R487W	Substitution - Missense	9:99149252-99149252,	PATHOGENIC	0.94378	28481359
TGFBR1	11772	COSM199708,	lung	carcinoma	p.R487W	Substitution - Missense	9:99149252-99149252,	PATHOGENIC	0.94378	28481359
TGFBR1	11772	COSM5915891,	pancreas	carcinoma	p.R215*	Substitution - Nonsense	9:99137927-99137927,	PATHOGENIC	0.94172	28481359
TGFBR1	11772	COSM5915891,	skin	carcinoma	p.R215*	Substitution - Nonsense	9:99137927-99137927,	PATHOGENIC	0.94172	28481359
TGFBR1	11772	COSM6909229,	liver	carcinoma	p.A87T	Substitution - Missense	9:99129016-99129016,	PATHOGENIC	0.93886	28481359
TGFBR1	11772	COSM6909229,	lung	carcinoma	p.A87T	Substitution - Missense	9:99129016-99129016,	PATHOGENIC	0.93886	28481359
TGFBR1	11772	COSM6960170,	lung	carcinoma	p.V58F	Substitution - Missense	9:99128929-99128929,	PATHOGENIC	0.93259	28481359
TGFBR1	11772	COSM6915468,	salivary_gland	carcinoma	p.K108N	Substitution - Missense	9:99129081-99129081,	PATHOGENIC	0.93258	28481359
TGFBR1	11772	COSM6951963,	biliary_tract	carcinoma	p.E245D	Substitution - Missense	9:99138019-99138019,	PATHOGENIC	0.92976	28481359
TGFBR1	11772	COSM1103193,	endometrium	carcinoma	p.R255C	Substitution - Missense	9:99138047-99138047,	PATHOGENIC	0.92945	28481359
TGFBR1	11772	COSM7325228,	biliary_tract	carcinoma	p.S117*	Substitution - Nonsense	9:99132515-99132515,	PATHOGENIC	0.92301	29360550
TGFBR1	11772	COSM6199912,	pancreas	carcinoma	p.R80*	Substitution - Nonsense	9:99128995-99128995,	PATHOGENIC	0.91845	28481359
TGFBR1	11772	COSM6922346,	pancreas	carcinoma	p.Y182*	Substitution - Nonsense	9:99132711-99132711,	PATHOGENIC	0.91837	28481359
TGFBR1	11772	COSM6550291,	stomach	carcinoma	p.K232N	Substitution - Missense	9:99137980-99137980,	PATHOGENIC	0.90174	28481359
TGFBR1	11772	COSM6970894,	lung	carcinoma	p.L431V	Substitution - Missense	9:99147689-99147689,	PATHOGENIC	0.90082	28481359
TGFBR1	11772	COSM6915289,	large_intestine	carcinoma	p.K391N	Substitution - Missense	9:99146527-99146527,	PATHOGENIC	0.89703	28481359
TGFBR1	11772	COSM6919279,	large_intestine	carcinoma	p.L431I	Substitution - Missense	9:99147689-99147689,	PATHOGENIC	0.89161	28481359
TGFBR1	11772	COSM6977239,	skin	malignant_melanoma	p.R442K	Substitution - Missense	9:99147723-99147723,	PATHOGENIC	0.89143	28481359
TGFBR1	11772	COSM1458891,	lung	carcinoma	p.A33V	Substitution - Missense	9:99128855-99128855,	PATHOGENIC	0.88882	28481359
TGFBR1	11772	COSM6944133,	urinary_tract	carcinoma	p.T42A	Substitution - Missense	9:99128881-99128881,	PATHOGENIC	0.78667	28481359
TGFBR1	11772	COSM6944133,	urinary_tract	carcinoma	p.T42A	Substitution - Missense	9:99128881-99128881,	PATHOGENIC	0.78667	28481359
TGFBR1	11772	COSM6977982,	pancreas	carcinoma	p.R294S	Substitution - Missense	9:99142612-99142612,	PATHOGENIC	0.77487	28481359
TGFBR1	11772	COSM6947719,	lung	carcinoma	p.R482S	Substitution - Missense	9:99149239-99149239,	PATHOGENIC	0.76634	28481359
TGFBR1	11772	COSM6955496,	lung	carcinoma	p.E228D	Substitution - Missense	9:99137968-99137968,	PATHOGENIC	0.76591	28481359
TGFBR1	11772	COSM6927583,	central_nervous_system	glioma	p.R225W	Substitution - Missense	9:99137957-99137957,	NEUTRAL	0.48595	28481359
TGFBR1	11772	COSM6939859,	liver	carcinoma	p.L352F	Substitution - Missense	9:99144814-99144814,	NEUTRAL	0.27582	28481359
TGFBR1	11772	COSM48974,	lung	carcinoma	p.S336fs*21	Deletion - Frameshift	9:99144765-99144772,	Info_not_available	Info_not_available	18948947
TGFBR1	11772	COSM308715,	lung	carcinoma	p.L340fs*20	Insertion - Frameshift	9:99144775-99144776,	Info_not_available	Info_not_available	22941188
TGFBR1	11772	COSM6977058,	breast, central_nervous_system, endometrium, kidney, large_intestine, lung, pancreas, skin, soft_tissue, stomach, urinary_tract	carcinoma, glioma, leiomyosarcoma, malignant_melanoma	p.A24_A26delAAA, p.A25_A26delAA, p.D435fs*1, p.E410_S416>DT, p.G301fs*2, p.G312F, p.G345fs*8, p.L180fs*1, p.L316_T323delLHMEIVGT, p.L340fs*2, p.N478fs*4, p.P133fs*30, p.S496fs*>9, p.T491fs*>13, p.V466fs*6	Complex - deletion inframe, Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Substitution - Missense	9:99149278-99149279,	Info_not_available	Info_not_available	28481359