| Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score | Literature evidence |
| SMAD3 | 6769 | COSM6957554, | penis | carcinoma | p.S391R | Substitution - Missense | 15:67190429-67190429, | PATHOGENIC | 0.99466 | 28481359 |
| SMAD3 | 6769 | COSM6023586, | large_intestine | carcinoma | p.D408Y | Substitution - Missense | 15:67190480-67190480, | PATHOGENIC | 0.99314 | 23139211 |
| SMAD3 | 6769 | COSM6023574, | large_intestine | carcinoma | p.H399R | Substitution - Missense | 15:67190454-67190454, | PATHOGENIC | 0.99308 | 23139211 |
| SMAD3 | 6769 | COSM33157, | large_intestine | carcinoma | p.P393L | Substitution - Missense | 15:67190436-67190436, | PATHOGENIC | 0.98956 | 16959974 |
| SMAD3 | 6769 | COSM2257399, | large_intestine | carcinoma | p.? | Unknown | 15:67165385-67165385, | PATHOGENIC | 0.9868 | 23139211 |
| SMAD3 | 6769 | COSM6971032, | large_intestine | carcinoma | p.L407P | Substitution - Missense | 15:67190478-67190478, | PATHOGENIC | 0.98592 | 28481359 |
| SMAD3 | 6769 | COSM6023906, | upper_aerodigestive_tract | carcinoma | p.L296H | Substitution - Missense | 15:67184742-67184742, | PATHOGENIC | 0.98454 | 23913824 |
| SMAD3 | 6769 | COSM6023609, | large_intestine | carcinoma | p.R90L | Substitution - Missense | 15:67164957-67164957, | PATHOGENIC | 0.98371 | 23139211 |
| SMAD3 | 6769 | COSM6023609, | large_intestine | carcinoma | p.R90L | Substitution - Missense | 15:67164957-67164957, | PATHOGENIC | 0.98371 | 28481359 |
| SMAD3 | 6769 | COSM6955196, | large_intestine | carcinoma | p.G73D | Substitution - Missense | 15:67164906-67164906, | PATHOGENIC | 0.97892 | 28481359 |
| SMAD3 | 6769 | COSM6936776, | prostate | carcinoma | p.? | Unknown | 15:67166854-67166854, | PATHOGENIC | 0.97835 | 28481359 |
| SMAD3 | 6769 | COSM6941056, | soft_tissue | haemangioendothelioma | p.G337R | Substitution - Missense | 15:67184864-67184864, | PATHOGENIC | 0.97803 | 28481359 |
| SMAD3 | 6769 | COSM6947226, | ovary | carcinoma | p.G379V | Substitution - Missense | 15:67187491-67187491, | PATHOGENIC | 0.97756 | 28481359 |
| SMAD3 | 6769 | COSM6023596, | large_intestine | carcinoma | p.E187* | Substitution - Nonsense | 15:67166805-67166805, | PATHOGENIC | 0.97704 | 23139211 |
| SMAD3 | 6769 | COSM1226715, | endometrium | carcinoma | p.R373H | Substitution - Missense | 15:67187473-67187473, | PATHOGENIC | 0.97574 | 28481359 |
| SMAD3 | 6769 | COSM6929036, | central_nervous_system | glioma | p.V363I | Substitution - Missense | 15:67187442-67187442, | PATHOGENIC | 0.97574 | 28481359 |
| SMAD3 | 6769 | COSM1226715, | large_intestine | carcinoma | p.R373H | Substitution - Missense | 15:67187473-67187473, | PATHOGENIC | 0.97574 | 16828225 |
| SMAD3 | 6769 | COSM1226723, | large_intestine | carcinoma | p.R368Q | Substitution - Missense | 15:67187458-67187458, | PATHOGENIC | 0.97564 | 23139211 |
| SMAD3 | 6769 | COSM6941307, | central_nervous_system | glioma | p.G379D | Substitution - Missense | 15:67187491-67187491, | PATHOGENIC | 0.97517 | 28481359 |
| SMAD3 | 6769 | COSM6941307, | large_intestine | carcinoma | p.G379D | Substitution - Missense | 15:67187491-67187491, | PATHOGENIC | 0.97517 | 28481359 |
| SMAD3 | 6769 | COSM6918871, | large_intestine | carcinoma | p.W326* | Substitution - Nonsense | 15:67184833-67184833, | PATHOGENIC | 0.97437 | 28481359 |
| SMAD3 | 6769 | COSM32690, | large_intestine | carcinoma | p.? | Unknown | 15:67184865-67184865, | PATHOGENIC | 0.97437 | 16959974 |
| SMAD3 | 6769 | COSM194272, | large_intestine | carcinoma | p.G325D | Substitution - Missense | 15:67184829-67184829, | PATHOGENIC | 0.97437 | 23139211 |
| SMAD3 | 6769 | COSM303245, | large_intestine | carcinoma | p.V331I | Substitution - Missense | 15:67184846-67184846, | PATHOGENIC | 0.97437 | 28481359 |
| SMAD3 | 6769 | COSM6945118, | pancreas | carcinoma | p.Y364S | Substitution - Missense | 15:67187446-67187446, | PATHOGENIC | 0.97404 | 28481359 |
| SMAD3 | 6769 | COSM6943483, | pancreas | carcinoma | p.S423I | Substitution - Missense | 15:67190526-67190526, | PATHOGENIC | 0.97403 | 28481359 |
| SMAD3 | 6769 | COSM6972746, | small_intestine | carcinoma | p.F343V | Substitution - Missense | 15:67187382-67187382, | PATHOGENIC | 0.97351 | 28481359 |
| SMAD3 | 6769 | COSM6906712, | large_intestine | carcinoma | p.? | Unknown | 15:67187510-67187510, | PATHOGENIC | 0.97334 | 29420467 |
| SMAD3 | 6769 | COSM6981596, | urinary_tract | carcinoma | p.E306Q | Substitution - Missense | 15:67184771-67184771, | PATHOGENIC | 0.97295 | 28481359 |
| SMAD3 | 6769 | COSM6023584, | large_intestine | carcinoma | p.E383* | Substitution - Nonsense | 15:67187502-67187502, | PATHOGENIC | 0.97159 | 28481359 |
| SMAD3 | 6769 | COSM6023584, | large_intestine | carcinoma | p.E383* | Substitution - Nonsense | 15:67187502-67187502, | PATHOGENIC | 0.97159 | 23139211 |
| SMAD3 | 6769 | COSM6962704, | pancreas | carcinoma | p.C421Y | Substitution - Missense | 15:67190520-67190520, | PATHOGENIC | 0.97146 | 28481359 |
| SMAD3 | 6769 | COSM6981419, | urinary_tract | carcinoma | p.V315F | Substitution - Missense | 15:67184798-67184798, | PATHOGENIC | 0.9709 | 28481359 |
| SMAD3 | 6769 | COSM6023613, | large_intestine | carcinoma | p.G381E | Substitution - Missense | 15:67187497-67187497, | PATHOGENIC | 0.96977 | 23139211 |
| SMAD3 | 6769 | COSM6023599, | large_intestine | carcinoma | p.? | Unknown | 15:67187510-67187510, | PATHOGENIC | 0.96977 | 23139211 |
| SMAD3 | 6769 | COSM4728215, | endometrium | carcinoma | p.A305T | Substitution - Missense | 15:67184768-67184768, | PATHOGENIC | 0.96821 | 28481359 |
| SMAD3 | 6769 | COSM4990764, | skin | carcinoma | p.P211S | Substitution - Missense | 15:67170577-67170577, | PATHOGENIC | 0.96766 | 25589618 |
| SMAD3 | 6769 | COSM6945985, | pancreas | carcinoma | p.G82E | Substitution - Missense | 15:67164933-67164933, | PATHOGENIC | 0.9657 | 28481359 |
| SMAD3 | 6769 | COSM6983347, | large_intestine | carcinoma | p.C270F | Substitution - Missense | 15:67181391-67181391, | PATHOGENIC | 0.96305 | 28481359 |
| SMAD3 | 6769 | COSM6958203, | lung | carcinoma | p.S422Y | Substitution - Missense | 15:67190523-67190523, | PATHOGENIC | 0.96291 | 28481359 |
| SMAD3 | 6769 | COSM6958203, | pancreas | carcinoma | p.S422Y | Substitution - Missense | 15:67190523-67190523, | PATHOGENIC | 0.96291 | 28481359 |
| SMAD3 | 6769 | COSM6952342, | large_intestine | carcinoma | p.E171K | Substitution - Missense | 15:67165363-67165363, | PATHOGENIC | 0.96269 | 28481359 |
| SMAD3 | 6769 | COSM5342615, | skin | malignant_melanoma | p.Q358* | Substitution - Nonsense | 15:67187427-67187427, | PATHOGENIC | 0.96238 | 28481359 |
| SMAD3 | 6769 | COSM6941651, | stomach | carcinoma | p.N319S | Substitution - Missense | 15:67184811-67184811, | PATHOGENIC | 0.96215 | 28481359 |
| SMAD3 | 6769 | COSM434194, | urinary_tract | carcinoma | p.A382V | Substitution - Missense | 15:67187500-67187500, | PATHOGENIC | 0.96158 | 28481359 |
| SMAD3 | 6769 | COSM6023580, | large_intestine | carcinoma | p.E246* | Substitution - Nonsense | 15:67181318-67181318, | PATHOGENIC | 0.96138 | 23139211 |
| SMAD3 | 6769 | COSM6023608, | large_intestine | carcinoma | p.P336S | Substitution - Missense | 15:67184861-67184861, | PATHOGENIC | 0.96123 | 23139211 |
| SMAD3 | 6769 | COSM295046, | large_intestine | carcinoma | p.R268H | Substitution - Missense | 15:67181385-67181385, | PATHOGENIC | 0.95974 | 28481359 |
| SMAD3 | 6769 | COSM295046, | large_intestine | carcinoma | p.R268H | Substitution - Missense | 15:67181385-67181385, | PATHOGENIC | 0.95974 | 28481359 |
| SMAD3 | 6769 | COSM6023570, | large_intestine | carcinoma | p.D258N | Substitution - Missense | 15:67181354-67181354, | PATHOGENIC | 0.95945 | 23139211 |
| SMAD3 | 6769 | COSM4728213, | urinary_tract | carcinoma | p.D262N | Substitution - Missense | 15:67181366-67181366, | PATHOGENIC | 0.95945 | 28481359 |
| SMAD3 | 6769 | COSM6023570, | small_intestine | carcinoma | p.D258N | Substitution - Missense | 15:67181354-67181354, | PATHOGENIC | 0.95945 | 28481359 |
| SMAD3 | 6769 | COSM6963796, | large_intestine | carcinoma | p.N175D | Substitution - Missense | 15:67165375-67165375, | PATHOGENIC | 0.95818 | 28481359 |
| SMAD3 | 6769 | COSM4168906, | testis | germ_cell_tumour | p.G245R | Substitution - Missense | 15:67181315-67181315, | PATHOGENIC | 0.95792 | 28481359 |
| SMAD3 | 6769 | COSM4056421, | large_intestine | carcinoma | p.A250T | Substitution - Missense | 15:67181330-67181330, | PATHOGENIC | 0.95792 | 23139211 |
| SMAD3 | 6769 | COSM2257401, | large_intestine | carcinoma | p.E239K | Substitution - Missense | 15:67181297-67181297, | PATHOGENIC | 0.95792 | 28481359 |
| SMAD3 | 6769 | COSM6023610, | large_intestine | carcinoma | p.E228K | Substitution - Missense | 15:67181264-67181264, | PATHOGENIC | 0.95792 | 23139211 |
| SMAD3 | 6769 | COSM4168906, | large_intestine | carcinoma | p.G245R | Substitution - Missense | 15:67181315-67181315, | PATHOGENIC | 0.95792 | 28481359 |
| SMAD3 | 6769 | COSM4728211, | large_intestine | carcinoma | p.R243H | Substitution - Missense | 15:67181310-67181310, | PATHOGENIC | 0.95792 | 28481359 |
| SMAD3 | 6769 | COSM6930210, | large_intestine | carcinoma | p.W232* | Substitution - Nonsense | 15:67181277-67181277, | PATHOGENIC | 0.95792 | 28481359 |
| SMAD3 | 6769 | COSM6941325, | breast | carcinoma | p.S416F | Substitution - Missense | 15:67190505-67190505, | PATHOGENIC | 0.95544 | 28481359 |
| SMAD3 | 6769 | COSM84294, | skin | carcinoma | p.S422F | Substitution - Missense | 15:67190523-67190523, | PATHOGENIC | 0.95544 | 25589618 |
| SMAD3 | 6769 | COSM6960627, | endometrium | carcinoma | p.R420C | Substitution - Missense | 15:67190516-67190516, | PATHOGENIC | 0.95544 | 28481359 |
| SMAD3 | 6769 | COSM6941325, | large_intestine | carcinoma | p.S416F | Substitution - Missense | 15:67190505-67190505, | PATHOGENIC | 0.95544 | 28481359 |
| SMAD3 | 6769 | COSM5008241, | large_intestine | carcinoma | p.R287P | Substitution - Missense | 15:67181442-67181442, | PATHOGENIC | 0.95453 | 24951259 |
| SMAD3 | 6769 | COSM6930646, | large_intestine | carcinoma | p.V315G | Substitution - Missense | 15:67184799-67184799, | PATHOGENIC | 0.95385 | 28481359 |
| SMAD3 | 6769 | COSM6956046, | urinary_tract | carcinoma | p.Y237S | Substitution - Missense | 15:67181292-67181292, | PATHOGENIC | 0.95358 | 28481359 |
| SMAD3 | 6769 | COSM6976001, | endometrium | carcinoma | p.P172H | Substitution - Missense | 15:67165367-67165367, | PATHOGENIC | 0.95244 | 28481359 |
| SMAD3 | 6769 | COSM5610585, | skin | malignant_melanoma | p.P161H | Substitution - Missense | 15:67165334-67165334, | PATHOGENIC | 0.95242 | 26343386 |
| SMAD3 | 6769 | COSM6973570, | ovary | sex_cord-stromal_tumour | p.P136R | Substitution - Missense | 15:67165259-67165259, | PATHOGENIC | 0.95222 | 28481359 |
| SMAD3 | 6769 | COSM6975984, | large_intestine | carcinoma | p.? | Unknown | 15:67181454-67181454, | PATHOGENIC | 0.95115 | 28481359 |
| SMAD3 | 6769 | COSM6941031, | large_intestine | carcinoma | p.R93L | Substitution - Missense | 15:67164966-67164966, | PATHOGENIC | 0.95056 | 28481359 |
| SMAD3 | 6769 | COSM6960403, | large_intestine | carcinoma | p.Q322* | Substitution - Nonsense | 15:67184819-67184819, | PATHOGENIC | 0.94947 | 28481359 |
| SMAD3 | 6769 | COSM6915694, | large_intestine | carcinoma | p.K63T | Substitution - Missense | 15:67066342-67066342, | PATHOGENIC | 0.94895 | 28481359 |
| SMAD3 | 6769 | COSM6983560, | liver | carcinoma | p.N276S | Substitution - Missense | 15:67181409-67181409, | PATHOGENIC | 0.94894 | 28481359 |
| SMAD3 | 6769 | COSM98061, | large_intestine | carcinoma | p.S425C | Substitution - Missense | 15:67190532-67190532, | PATHOGENIC | 0.94884 | 23139211 |
| SMAD3 | 6769 | COSM98061, | breast | carcinoma | p.S425C | Substitution - Missense | 15:67190532-67190532, | PATHOGENIC | 0.94884 | 27284958 |
| SMAD3 | 6769 | COSM6910091, | prostate | carcinoma | p.V122M | Substitution - Missense | 15:67165052-67165052, | PATHOGENIC | 0.94824 | 28481359 |
| SMAD3 | 6769 | COSM6910091, | prostate | carcinoma | p.V122M | Substitution - Missense | 15:67165052-67165052, | PATHOGENIC | 0.94824 | 28481359 |
| SMAD3 | 6769 | COSM6974397, | skin | carcinoma | p.E102K | Substitution - Missense | 15:67164992-67164992, | PATHOGENIC | 0.9479 | 28481359 |
| SMAD3 | 6769 | COSM5610583, | skin | malignant_melanoma | p.F166C | Substitution - Missense | 15:67165349-67165349, | PATHOGENIC | 0.94761 | 26343386 |
| SMAD3 | 6769 | COSM6784638, | urinary_tract | carcinoma | p.R287Q | Substitution - Missense | 15:67181442-67181442, | PATHOGENIC | 0.94678 | 28481359 |
| SMAD3 | 6769 | COSM6937522, | lung | carcinoma | p.R288K | Substitution - Missense | 15:67181445-67181445, | PATHOGENIC | 0.94678 | 28481359 |
| SMAD3 | 6769 | COSM6784638, | breast | carcinoma | p.R287Q | Substitution - Missense | 15:67181442-67181442, | PATHOGENIC | 0.94678 | 28481359 |
| SMAD3 | 6769 | COSM434193, | large_intestine | carcinoma | p.R93Q | Substitution - Missense | 15:67164966-67164966, | PATHOGENIC | 0.94627 | 28481359 |
| SMAD3 | 6769 | COSM434193, | large_intestine | carcinoma | p.R93Q | Substitution - Missense | 15:67164966-67164966, | PATHOGENIC | 0.94627 | 23139211 |
| SMAD3 | 6769 | COSM434193, | endometrium | carcinoma | p.R93Q | Substitution - Missense | 15:67164966-67164966, | PATHOGENIC | 0.94627 | 28481359 |
| SMAD3 | 6769 | COSM4995594, | lung | carcinoma | p.P151L | Substitution - Missense | 15:67165304-67165304, | PATHOGENIC | 0.94358 | 28481359 |
| SMAD3 | 6769 | COSM6973576, | ovary | sex_cord-stromal_tumour | p.V138L | Substitution - Missense | 15:67165264-67165264, | PATHOGENIC | 0.94156 | 28481359 |
| SMAD3 | 6769 | COSM6923052, | stomach | carcinoma | p.F260V | Substitution - Missense | 15:67181360-67181360, | PATHOGENIC | 0.94135 | 28481359 |
| SMAD3 | 6769 | COSM6923052, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F260V | Substitution - Missense | 15:67181360-67181360, | PATHOGENIC | 0.94135 | 28481359 |
| SMAD3 | 6769 | COSM6956567, | lung | carcinoma | p.P137L | Substitution - Missense | 15:67165262-67165262, | PATHOGENIC | 0.94052 | 28481359 |
| SMAD3 | 6769 | COSM1708328, | large_intestine | carcinoma | p.R373C | Substitution - Missense | 15:67187472-67187472, | PATHOGENIC | 0.94039 | 28481359 |
| SMAD3 | 6769 | COSM1708328, | large_intestine | carcinoma | p.R373C | Substitution - Missense | 15:67187472-67187472, | PATHOGENIC | 0.94039 | 28481359 |
| SMAD3 | 6769 | COSM1708328, | large_intestine | carcinoma | p.R373C | Substitution - Missense | 15:67187472-67187472, | PATHOGENIC | 0.94039 | 23139211 |
| SMAD3 | 6769 | COSM1708328, | large_intestine | carcinoma | p.R373C | Substitution - Missense | 15:67187472-67187472, | PATHOGENIC | 0.94039 | 23139211 |
| SMAD3 | 6769 | COSM6945888, | large_intestine | carcinoma | p.Y298* | Substitution - Nonsense | 15:67184749-67184749, | PATHOGENIC | 0.93904 | 28481359 |
| SMAD3 | 6769 | COSM6023595, | large_intestine | carcinoma | p.H126R | Substitution - Missense | 15:67165065-67165065, | PATHOGENIC | 0.93837 | 23139211 |
| SMAD3 | 6769 | COSM6964839, | large_intestine | carcinoma | p.Y384* | Substitution - Nonsense | 15:67187507-67187507, | PATHOGENIC | 0.93752 | 28481359 |
| SMAD3 | 6769 | COSM6023905, | upper_aerodigestive_tract | carcinoma | p.V277G | Substitution - Missense | 15:67181412-67181412, | PATHOGENIC | 0.93571 | 23913824 |
| SMAD3 | 6769 | COSM2257413, | large_intestine | carcinoma | p.S266L | Substitution - Missense | 15:67181379-67181379, | PATHOGENIC | 0.93564 | 23139211 |
| SMAD3 | 6769 | COSM6191621, | large_intestine | carcinoma | p.T261I | Substitution - Missense | 15:67181364-67181364, | PATHOGENIC | 0.93529 | 25617745 |
| SMAD3 | 6769 | COSM6918562, | central_nervous_system | glioma | p.A168P | Substitution - Missense | 15:67165354-67165354, | PATHOGENIC | 0.9347 | 28481359 |
| SMAD3 | 6769 | COSM6918562, | central_nervous_system | glioma | p.A168P | Substitution - Missense | 15:67165354-67165354, | PATHOGENIC | 0.9347 | 28481359 |
| SMAD3 | 6769 | COSM6023587, | large_intestine | carcinoma | p.Y384* | Substitution - Nonsense | 15:67187507-67187507, | PATHOGENIC | 0.93425 | 23139211 |
| SMAD3 | 6769 | COSM6023591, | large_intestine | carcinoma | p.F269L | Substitution - Missense | 15:67181387-67181387, | PATHOGENIC | 0.93364 | 23139211 |
| SMAD3 | 6769 | COSM6979515, | endometrium | carcinoma | p.L271P | Substitution - Missense | 15:67181394-67181394, | PATHOGENIC | 0.93364 | 28481359 |
| SMAD3 | 6769 | COSM4807723, | large_intestine | carcinoma | p.S425F | Substitution - Missense | 15:67190532-67190532, | PATHOGENIC | 0.93098 | 28481359 |
| SMAD3 | 6769 | COSM4944531, | pancreas | carcinoma | p.R279K | Substitution - Missense | 15:67181418-67181418, | PATHOGENIC | 0.93067 | 28481359 |
| SMAD3 | 6769 | COSM6914502, | central_nervous_system | glioma | p.P229L | Substitution - Missense | 15:67181268-67181268, | PATHOGENIC | 0.91876 | 28481359 |
| SMAD3 | 6769 | COSM6930497, | NS | malignant_melanoma | p.P124S | Substitution - Missense | 15:67165058-67165058, | PATHOGENIC | 0.91848 | 28481359 |
| SMAD3 | 6769 | COSM6023594, | large_intestine | carcinoma | p.A105V | Substitution - Missense | 15:67165002-67165002, | PATHOGENIC | 0.91793 | 23139211 |
| SMAD3 | 6769 | COSM6971820, | large_intestine | carcinoma | p.P95L | Substitution - Missense | 15:67164972-67164972, | PATHOGENIC | 0.91793 | 28481359 |
| SMAD3 | 6769 | COSM6941910, | urinary_tract | carcinoma | p.*426Y | Nonstop extension | 15:67190536-67190536, | PATHOGENIC | 0.91387 | 28481359 |
| SMAD3 | 6769 | COSM6943549, | cervix | carcinoma | p.R323C | Substitution - Missense | 15:67184822-67184822, | PATHOGENIC | 0.91087 | 28481359 |
| SMAD3 | 6769 | COSM6949368, | stomach | carcinoma | p.E50K | Substitution - Missense | 15:67066302-67066302, | PATHOGENIC | 0.90895 | 28481359 |
| SMAD3 | 6769 | COSM6191622, | large_intestine | carcinoma | p.R69S | Substitution - Missense | 15:67164895-67164895, | PATHOGENIC | 0.90837 | 25617745 |
| SMAD3 | 6769 | COSM964264, | large_intestine | carcinoma | p.R268C | Substitution - Missense | 15:67181384-67181384, | PATHOGENIC | 0.90624 | 24951259 |
| SMAD3 | 6769 | COSM964264, | large_intestine | carcinoma | p.R268C | Substitution - Missense | 15:67181384-67181384, | PATHOGENIC | 0.90624 | 24951259 |
| SMAD3 | 6769 | COSM964264, | large_intestine | carcinoma | p.R268C | Substitution - Missense | 15:67181384-67181384, | PATHOGENIC | 0.90624 | 28481359 |
| SMAD3 | 6769 | COSM964264, | large_intestine | carcinoma | p.R268C | Substitution - Missense | 15:67181384-67181384, | PATHOGENIC | 0.90624 | 23139211 |
| SMAD3 | 6769 | COSM964264, | large_intestine | carcinoma | p.R268C | Substitution - Missense | 15:67181384-67181384, | PATHOGENIC | 0.90624 | 28481359 |
| SMAD3 | 6769 | COSM964264, | endometrium | carcinoma | p.R268C | Substitution - Missense | 15:67181384-67181384, | PATHOGENIC | 0.90624 | 29420467 |
| SMAD3 | 6769 | COSM964264, | large_intestine | carcinoma | p.R268C | Substitution - Missense | 15:67181384-67181384, | PATHOGENIC | 0.90624 | 28481359 |
| SMAD3 | 6769 | COSM6923880, | lung | carcinoma | p.A281E | Substitution - Missense | 15:67181424-67181424, | PATHOGENIC | 0.8882 | 28481359 |
| SMAD3 | 6769 | COSM6925258, | large_intestine | carcinoma | p.R80W | Substitution - Missense | 15:67164926-67164926, | PATHOGENIC | 0.88586 | 28481359 |
| SMAD3 | 6769 | COSM6925258, | lung | carcinoma | p.R80W | Substitution - Missense | 15:67164926-67164926, | PATHOGENIC | 0.88586 | 28481359 |
| SMAD3 | 6769 | COSM6931985, | central_nervous_system | glioma | p.P9L | Substitution - Missense | 15:67066180-67066180, | PATHOGENIC | 0.88559 | 28481359 |
| SMAD3 | 6769 | COSM6023605, | large_intestine | carcinoma | p.L97M | Substitution - Missense | 15:67164977-67164977, | PATHOGENIC | 0.88495 | 23139211 |
| SMAD3 | 6769 | COSM5008629, | large_intestine | carcinoma | p.K81N | Substitution - Missense | 15:67164931-67164931, | PATHOGENIC | 0.87974 | 24951259 |
| SMAD3 | 6769 | COSM6023566, | large_intestine | carcinoma | p.Q47* | Substitution - Nonsense | 15:67066293-67066293, | PATHOGENIC | 0.87724 | 23139211 |
| SMAD3 | 6769 | COSM6922660, | large_intestine | carcinoma | p.S99N | Substitution - Missense | 15:67164984-67164984, | PATHOGENIC | 0.87618 | 28481359 |
| SMAD3 | 6769 | COSM4643916, | large_intestine | carcinoma | p.A202T | Substitution - Missense | 15:67166850-67166850, | PATHOGENIC | 0.86892 | 23139211 |
| SMAD3 | 6769 | COSM4643916, | large_intestine | carcinoma | p.A202T | Substitution - Missense | 15:67166850-67166850, | PATHOGENIC | 0.86892 | 23139211 |
| SMAD3 | 6769 | COSM6023907, | upper_aerodigestive_tract | carcinoma | p.P211P | Substitution - coding silent | 15:67170579-67170579, | PATHOGENIC | 0.86487 | 23913824 |
| SMAD3 | 6769 | COSM5002397, | large_intestine | carcinoma | p.R368* | Substitution - Nonsense | 15:67187457-67187457, | PATHOGENIC | 0.85733 | 28481359 |
| SMAD3 | 6769 | COSM1374204, | urinary_tract | carcinoma | p.P9S | Substitution - Missense | 15:67066179-67066179, | PATHOGENIC | 0.85448 | 28481359 |
| SMAD3 | 6769 | COSM6974496, | NS | carcinoma | p.S317F | Substitution - Missense | 15:67184805-67184805, | PATHOGENIC | 0.85365 | 28481359 |
| SMAD3 | 6769 | COSM6913274, | large_intestine | carcinoma | p.C270W | Substitution - Missense | 15:67181392-67181392, | PATHOGENIC | 0.85025 | 28481359 |
| SMAD3 | 6769 | COSM6959520, | central_nervous_system | glioma | p.T66I | Substitution - Missense | 15:67066351-67066351, | PATHOGENIC | 0.84255 | 28481359 |
| SMAD3 | 6769 | COSM6961967, | pancreas | carcinoid-endocrine_tumour | p.G17D | Substitution - Missense | 15:67066204-67066204, | PATHOGENIC | 0.83932 | 28481359 |
| SMAD3 | 6769 | COSM5020381, | soft_tissue | haemangioblastoma | p.I170V | Substitution - Missense | 15:67165360-67165360, | PATHOGENIC | 0.83214 | 25589003 |
| SMAD3 | 6769 | COSM5020381, | ovary | carcinoma | p.I170V | Substitution - Missense | 15:67165360-67165360, | PATHOGENIC | 0.83214 | 28481359 |
| SMAD3 | 6769 | COSM5020381, | soft_tissue | haemangioblastoma | p.I170V | Substitution - Missense | 15:67165360-67165360, | PATHOGENIC | 0.83214 | 25589003 |
| SMAD3 | 6769 | COSM6023612, | large_intestine | carcinoma | p.K43R | Substitution - Missense | 15:67066282-67066282, | PATHOGENIC | 0.82883 | 23139211 |
| SMAD3 | 6769 | COSM6910837, | central_nervous_system | glioma | p.P229S | Substitution - Missense | 15:67181267-67181267, | PATHOGENIC | 0.82839 | 28481359 |
| SMAD3 | 6769 | COSM6784661, | large_intestine | carcinoma | p.R243C | Substitution - Missense | 15:67181309-67181309, | PATHOGENIC | 0.81897 | 28481359 |
| SMAD3 | 6769 | COSM6947098, | large_intestine | carcinoma | p.I235M | Substitution - Missense | 15:67181287-67181287, | PATHOGENIC | 0.81642 | 28481359 |
| SMAD3 | 6769 | COSM6949979, | large_intestine | carcinoma | p.C64* | Substitution - Nonsense | 15:67066346-67066346, | PATHOGENIC | 0.80788 | 28481359 |
| SMAD3 | 6769 | COSM6949979, | large_intestine | carcinoma | p.C64* | Substitution - Nonsense | 15:67066346-67066346, | PATHOGENIC | 0.80788 | 28481359 |
| SMAD3 | 6769 | COSM6972593, | NS | carcinoma | p.E284D | Substitution - Missense | 15:67181434-67181434, | PATHOGENIC | 0.79966 | 28481359 |
| SMAD3 | 6769 | COSM3981624, | endometrium | carcinoma | p.R93* | Substitution - Nonsense | 15:67164965-67164965, | PATHOGENIC | 0.79847 | 28481359 |
| SMAD3 | 6769 | COSM3981624, | large_intestine | carcinoma | p.R93* | Substitution - Nonsense | 15:67164965-67164965, | PATHOGENIC | 0.79847 | 28481359 |
| SMAD3 | 6769 | COSM3981624, | large_intestine | carcinoma | p.R93* | Substitution - Nonsense | 15:67164965-67164965, | PATHOGENIC | 0.79847 | 28481359 |
| SMAD3 | 6769 | COSM3981624, | large_intestine | carcinoma | p.R93* | Substitution - Nonsense | 15:67164965-67164965, | PATHOGENIC | 0.79847 | 28481359 |
| SMAD3 | 6769 | COSM6970111, | lung | carcinoma | p.R69W | Substitution - Missense | 15:67066359-67066359, | PATHOGENIC | 0.79292 | 28481359 |
| SMAD3 | 6769 | COSM6023593, | large_intestine | carcinoma | p.I67I | Substitution - coding silent | 15:67066355-67066355, | PATHOGENIC | 0.75623 | 23139211 |
| SMAD3 | 6769 | COSM6920550, | large_intestine | carcinoma | p.M106V | Substitution - Missense | 15:67165004-67165004, | PATHOGENIC | 0.73718 | 28481359 |
| SMAD3 | 6769 | COSM5009852, | large_intestine | carcinoma | p.P124P | Substitution - coding silent | 15:67165060-67165060, | PATHOGENIC | 0.73203 | 24951259 |
| SMAD3 | 6769 | COSM6949673, | endometrium | carcinoma | p.V60I | Substitution - Missense | 15:67066332-67066332, | NEUTRAL | 0.49216 | 28481359 |
| SMAD3 | 6769 | COSM6023588, | large_intestine | carcinoma | p.F111F | Substitution - coding silent | 15:67165021-67165021, | NEUTRAL | 0.39722 | 23139211 |
| SMAD3 | 6769 | COSM5610589, | skin | malignant_melanoma | p.F376F | Substitution - coding silent | 15:67187483-67187483, | NEUTRAL | 0.22637 | 26343386 |
| SMAD3 | 6769 | COSM1226719, | skin | malignant_melanoma | p.R287W | Substitution - Missense | 15:67181441-67181441, | NEUTRAL | 0.20962 | 28481359 |
| SMAD3 | 6769 | COSM1226719, | large_intestine | carcinoma | p.R287W | Substitution - Missense | 15:67181441-67181441, | NEUTRAL | 0.20962 | 28481359 |
| SMAD3 | 6769 | COSM1226719, | large_intestine | carcinoma | p.R287W | Substitution - Missense | 15:67181441-67181441, | NEUTRAL | 0.20962 | 28481359 |
| SMAD3 | 6769 | COSM6023597, | large_intestine | carcinoma | p.T261T | Substitution - coding silent | 15:67181365-67181365, | NEUTRAL | 0.14426 | 23139211 |
| SMAD3 | 6769 | COSM4414061, | large_intestine | carcinoma | p.V244V | Substitution - coding silent | 15:67181314-67181314, | NEUTRAL | 0.14404 | 23139211 |
| SMAD3 | 6769 | COSM6023614, | large_intestine | carcinoma | p.? | Unknown | 15:67190406-67190406, | NEUTRAL | 0.11409 | 23139211 |
| SMAD3 | 6769 | COSM5610587, COSM5611387, | skin | malignant_melanoma | p.P182S, p.S275S | Substitution - Missense, Substitution - coding silent | 15:67166789-67166790, 15:67181407-67181407, | Info_not_available | 0.6756, Info_not_available | 26343386 |
| SMAD3 | 6769 | COSM5021105, | soft_tissue | haemangioblastoma | p.E22E | Substitution - coding silent | 15:67066220-67066220, | Info_not_available | 0.6702 | 25589003 |
| SMAD3 | 6769 | COSM6444833, | endometrium | carcinoma | p.K36N | Substitution - Missense | 15:67066262-67066262, | Info_not_available | 0.64408 | 27159395 |
| SMAD3 | 6769 | COSM6023564, COSM6023598, COSM6023604, COSM6023606, COSM6023611, COSM6023615, COSM964263, | large_intestine | carcinoma | p.?, p.P209P, p.R287fs*24, p.S422_S423insRN, p.S423fs*4, p.T56T, p.V389_T390del | Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Insertion - In frame, Substitution - coding silent, Unknown | 15:67066322-67066322, 15:67164892-67164892, 15:67170573-67170573, 15:67181440-67181441, 15:67190423-67190428, 15:67190522-67190523, 15:67190524-67190524, | Info_not_available | 0.64148, .68288, Info_not_available | 23139211 |
| SMAD3 | 6769 | COSM6908878, COSM6909558, COSM6922269, COSM6922698, COSM6927549, COSM6929611, COSM6929991, COSM6933653, COSM6934068, COSM6936456, COSM6946744, COSM6959759, COSM6959815, COSM6971021, COSM6978350, | biliary_tract, breast, large_intestine, ovary, pancreas, small_intestine, stomach, testis, urinary_tract | carcinoma, germ_cell_tumour, sex_cord-stromal_tumour | p.C227*, p.C89fs*22, p.E28delE, p.E32R, p.F348fs*18, p.G82fs*36, p.L15fs*79, p.L16V, p.N165fs*1, p.P182fs*4, p.R69fs*47, p.S418fs*>8, p.T390fs*1, p.V389fs*8, p.Y226delY | Complex - frameshift, Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Substitution - Missense, Substitution - Nonsense | 15:67066195-67066261, 15:67066200-67066200, 15:67066231-67066233, 15:67066248-67066249, 15:67066355-67066355, 15:67164932-67164932, 15:67164953-67164954, 15:67165343-67165344, 15:67166787-67166787, 15:67181257-67181259, 15:67181263-67181263, 15:67187398-67187401, 15:67190421-67190422, 15:67190422-67190423, 15:67190509-67190509, | Info_not_available | 0.5437, .64227, Info_not_available | 28481359 |