Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score![]() | Literature evidence |
BMPR1A | 1076 | COSM6930447, | lung | carcinoma | p.A379P | Substitution - Missense | 10:86919438-86919438, | PATHOGENIC | 0.99879 | 28481359 |
BMPR1A | 1076 | COSM5049681, | oesophagus | carcinoma | p.? | Unknown | 10:86919470-86919470, | PATHOGENIC | 0.99836 | 24686850 |
BMPR1A | 1076 | COSM20560, | stomach | carcinoma | p.R486Q | Substitution - Missense | 10:86923490-86923490, | PATHOGENIC | 0.99594 | Info_not_available |
BMPR1A | 1076 | COSM20479, | large_intestine | carcinoma | p.W487* | Substitution - Nonsense | 10:86923493-86923493, | PATHOGENIC | 0.99594 | Info_not_available |
BMPR1A | 1076 | COSM20479, | large_intestine | carcinoma | p.W487* | Substitution - Nonsense | 10:86923493-86923493, | PATHOGENIC | 0.99594 | Info_not_available |
BMPR1A | 1076 | COSM20560, | stomach | carcinoma | p.R486Q | Substitution - Missense | 10:86923490-86923490, | PATHOGENIC | 0.99594 | Info_not_available |
BMPR1A | 1076 | COSM1580604, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q304K | Substitution - Missense | 10:86919213-86919213, | PATHOGENIC | 0.99545 | 23292937 |
BMPR1A | 1076 | COSM1603818, | liver | carcinoma | p.Y453F | Substitution - Missense | 10:86923391-86923391, | PATHOGENIC | 0.99486 | Info_not_available |
BMPR1A | 1076 | COSM6929844, | prostate | carcinoma | p.E468K | Substitution - Missense | 10:86923435-86923435, | PATHOGENIC | 0.9946 | 28481359 |
BMPR1A | 1076 | COSM4382532, | large_intestine | carcinoma | p.R480Q | Substitution - Missense | 10:86923472-86923472, | PATHOGENIC | 0.9946 | 28481359 |
BMPR1A | 1076 | COSM6984497, | endometrium | carcinoma | p.P397A | Substitution - Missense | 10:86921542-86921542, | PATHOGENIC | 0.99423 | 28481359 |
BMPR1A | 1076 | COSM921000, | large_intestine | carcinoma | p.D208Y | Substitution - Missense | 10:86912331-86912331, | PATHOGENIC | 0.99306 | 28481359 |
BMPR1A | 1076 | COSM6960636, | upper_aerodigestive_tract | carcinoma | p.I288V | Substitution - Missense | 10:86917320-86917320, | PATHOGENIC | 0.99253 | 28481359 |
BMPR1A | 1076 | COSM6960636, | upper_aerodigestive_tract | carcinoma | p.I288V | Substitution - Missense | 10:86917320-86917320, | PATHOGENIC | 0.99253 | 28481359 |
BMPR1A | 1076 | COSM93968, | breast | carcinoma | p.A357T | Substitution - Missense | 10:86919372-86919372, | PATHOGENIC | 0.9923 | 20668451 |
BMPR1A | 1076 | COSM93968, | central_nervous_system | glioma | p.A357T | Substitution - Missense | 10:86919372-86919372, | PATHOGENIC | 0.9923 | 26487540 |
BMPR1A | 1076 | COSM48256, | lung | carcinoma | p.T520M | Substitution - Missense | 10:86923679-86923679, | PATHOGENIC | 0.99205 | 18948947 |
BMPR1A | 1076 | COSM6931869, | central_nervous_system | glioma | p.S510F | Substitution - Missense | 10:86923649-86923649, | PATHOGENIC | 0.99204 | 28481359 |
BMPR1A | 1076 | COSM6960097, | lung | carcinoma | p.G217D | Substitution - Missense | 10:86912359-86912359, | PATHOGENIC | 0.99193 | 28481359 |
BMPR1A | 1076 | COSM6930332, | urinary_tract | carcinoma | p.E313* | Substitution - Nonsense | 10:86919240-86919240, | PATHOGENIC | 0.99193 | 28481359 |
BMPR1A | 1076 | COSM6975998, | endometrium | carcinoma | p.A505T | Substitution - Missense | 10:86923633-86923633, | PATHOGENIC | 0.99096 | 28481359 |
BMPR1A | 1076 | COSM95696, | lung | carcinoma | p.? | Unknown | 10:86890225-86890225, | PATHOGENIC | 0.99044 | 20668451 |
BMPR1A | 1076 | COSM6914793, | prostate | carcinoma | p.E439G | Substitution - Missense | 10:86921669-86921669, | PATHOGENIC | 0.99005 | 28481359 |
BMPR1A | 1076 | COSM6915375, | upper_aerodigestive_tract | carcinoma | p.A294P | Substitution - Missense | 10:86919183-86919183, | PATHOGENIC | 0.9897 | 28481359 |
BMPR1A | 1076 | COSM6924662, | breast | carcinoma | p.D90N | Substitution - Missense | 10:86892164-86892164, | PATHOGENIC | 0.98769 | 28481359 |
BMPR1A | 1076 | COSM6936508, | lung | carcinoma | p.L225W | Substitution - Missense | 10:86912383-86912383, | PATHOGENIC | 0.98744 | 28481359 |
BMPR1A | 1076 | COSM6914095, | oesophagus | carcinoma | p.N73D | Substitution - Missense | 10:86890211-86890211, | PATHOGENIC | 0.98714 | 28481359 |
BMPR1A | 1076 | COSM6925888, | large_intestine | carcinoma | p.V402L | Substitution - Missense | 10:86921557-86921557, | PATHOGENIC | 0.98667 | 28481359 |
BMPR1A | 1076 | COSM197910, | large_intestine | carcinoma | p.R494* | Substitution - Nonsense | 10:86923600-86923600, | PATHOGENIC | 0.98459 | 23700467 |
BMPR1A | 1076 | COSM6945916, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 10:86890226-86890226, | PATHOGENIC | 0.9814 | 28481359 |
BMPR1A | 1076 | COSM6911291, | upper_aerodigestive_tract | carcinoma | p.? | Unknown | 10:86899793-86899793, | PATHOGENIC | 0.97857 | 28481359 |
BMPR1A | 1076 | COSM6939370, | lung | carcinoma | p.? | Unknown | 10:86899793-86899793, | PATHOGENIC | 0.9762 | 28481359 |
BMPR1A | 1076 | COSM6978232, | endometrium | carcinoma | p.L59* | Substitution - Nonsense | 10:86890170-86890170, | PATHOGENIC | 0.97567 | 28481359 |
BMPR1A | 1076 | COSM6971971, | small_intestine | carcinoma | p.R120P | Substitution - Missense | 10:86899819-86899819, | PATHOGENIC | 0.97419 | 28481359 |
BMPR1A | 1076 | COSM6969890, | lung | carcinoma | p.E123Q | Substitution - Missense | 10:86899827-86899827, | PATHOGENIC | 0.9741 | 28481359 |
BMPR1A | 1076 | COSM6954486, | large_intestine | carcinoma | p.R244* | Substitution - Nonsense | 10:86917188-86917188, | PATHOGENIC | 0.97191 | 28481359 |
BMPR1A | 1076 | COSM20748, | kidney | carcinoma | p.F58Y | Substitution - Missense | 10:86890167-86890167, | PATHOGENIC | 0.97017 | 20054297 |
BMPR1A | 1076 | COSM20748, | kidney | carcinoma | p.F58Y | Substitution - Missense | 10:86890167-86890167, | PATHOGENIC | 0.97017 | 20054297 |
BMPR1A | 1076 | COSM5019036, | soft_tissue | haemangioblastoma | p.D380D | Substitution - coding silent | 10:86919443-86919443, | PATHOGENIC | 0.97015 | 25589003 |
BMPR1A | 1076 | COSM5019036, | soft_tissue | haemangioblastoma | p.D380D | Substitution - coding silent | 10:86919443-86919443, | PATHOGENIC | 0.97015 | 25589003 |
BMPR1A | 1076 | COSM3441228, | large_intestine | carcinoma | p.R191C | Substitution - Missense | 10:86912280-86912280, | PATHOGENIC | 0.96616 | 28481359 |
BMPR1A | 1076 | COSM6959326, | large_intestine | carcinoma | p.T33I | Substitution - Missense | 10:86890092-86890092, | PATHOGENIC | 0.96505 | 28481359 |
BMPR1A | 1076 | COSM5977661, | central_nervous_system | glioma | p.P140T | Substitution - Missense | 10:86899878-86899878, | PATHOGENIC | 0.96449 | 26487540 |
BMPR1A | 1076 | COSM5977661, | central_nervous_system | glioma | p.P140T | Substitution - Missense | 10:86899878-86899878, | PATHOGENIC | 0.96449 | 26487540 |
BMPR1A | 1076 | COSM6939124, | lung | carcinoma | p.D148N | Substitution - Missense | 10:86900038-86900038, | PATHOGENIC | 0.96184 | 28481359 |
BMPR1A | 1076 | COSM6971642, | lung | carcinoma | p.H31Y | Substitution - Missense | 10:86890085-86890085, | PATHOGENIC | 0.95932 | 28481359 |
BMPR1A | 1076 | COSM6967018, | large_intestine | carcinoma | p.? | Unknown | 10:86919171-86919171, | PATHOGENIC | 0.9592 | 28481359 |
BMPR1A | 1076 | COSM6915133, | lung | carcinoma | p.M1I | Substitution - Missense | 10:86876021-86876021, | PATHOGENIC | 0.95355 | 28481359 |
BMPR1A | 1076 | COSM6971581, | breast | carcinoma | p.L26V | Substitution - Missense | 10:86890070-86890070, | PATHOGENIC | 0.95017 | 28481359 |
BMPR1A | 1076 | COSM4990006, | skin | carcinoma | p.S416S | Substitution - coding silent | 10:86921601-86921601, | PATHOGENIC | 0.94544 | 25589618 |
BMPR1A | 1076 | COSM6960063, | large_intestine | carcinoma | p.C61* | Substitution - Nonsense | 10:86890177-86890177, | PATHOGENIC | 0.94475 | 28481359 |
BMPR1A | 1076 | COSM6937830, | urinary_tract | carcinoma | p.R442C | Substitution - Missense | 10:86921677-86921677, | PATHOGENIC | 0.94447 | 28481359 |
BMPR1A | 1076 | COSM4889316, | lung | carcinoma | p.M35I | Substitution - Missense | 10:86890099-86890099, | PATHOGENIC | 0.94136 | 28481359 |
BMPR1A | 1076 | COSM1349417, | endometrium | carcinoma | p.R486W | Substitution - Missense | 10:86923489-86923489, | PATHOGENIC | 0.92484 | 28481359 |
BMPR1A | 1076 | COSM1349417, | large_intestine | carcinoma | p.R486W | Substitution - Missense | 10:86923489-86923489, | PATHOGENIC | 0.92484 | 28481359 |
BMPR1A | 1076 | COSM1349417, | large_intestine | carcinoma | p.R486W | Substitution - Missense | 10:86923489-86923489, | PATHOGENIC | 0.92484 | 28481359 |
BMPR1A | 1076 | COSM6450475, | NS | carcinoma | p.R471C | Substitution - Missense | 10:86923444-86923444, | PATHOGENIC | 0.92387 | 28481359 |
BMPR1A | 1076 | COSM6928533, | breast | carcinoma | p.I436F | Substitution - Missense | 10:86921659-86921659, | PATHOGENIC | 0.92345 | 28481359 |
BMPR1A | 1076 | COSM6968424, | kidney | carcinoma | p.Q212H | Substitution - Missense | 10:86912345-86912345, | PATHOGENIC | 0.91985 | 28481359 |
BMPR1A | 1076 | COSM6916680, | lung | carcinoma | p.L369F | Substitution - Missense | 10:86919408-86919408, | PATHOGENIC | 0.9089 | 28481359 |
BMPR1A | 1076 | COSM1645447, | large_intestine | carcinoma | p.R273* | Substitution - Nonsense | 10:86917275-86917275, | PATHOGENIC | 0.89667 | 23700467 |
BMPR1A | 1076 | COSM1645447, | stomach | carcinoma | p.R273* | Substitution - Nonsense | 10:86917275-86917275, | PATHOGENIC | 0.89667 | 28481359 |
BMPR1A | 1076 | COSM93967, | lung | carcinoma | p.M167I | Substitution - Missense | 10:86900097-86900097, | PATHOGENIC | 0.89627 | 20668451 |
BMPR1A | 1076 | COSM6975391, | large_intestine | carcinoma | p.L59I | Substitution - Missense | 10:86890169-86890169, | PATHOGENIC | 0.86604 | 28481359 |
BMPR1A | 1076 | COSM6945648, | urinary_tract | carcinoma | p.S19C | Substitution - Missense | 10:86876074-86876074, | PATHOGENIC | 0.71309 | 28481359 |
BMPR1A | 1076 | COSM6983738, | pancreas | carcinoid-endocrine_tumour | p.F147L | Substitution - Missense | 10:86900037-86900037, | NEUTRAL | 0.44841 | 28481359 |
BMPR1A | 1076 | COSM6974388, | skin | carcinoma | p.R20H | Substitution - Missense | 10:86876077-86876077, | NEUTRAL | 0.01607 | 28481359 |
BMPR1A | 1076 | COSM6986485, | large_intestine, lung, pancreas, prostate, skin, urinary_tract | carcinoma, malignant_melanoma | p.C124fs*8, p.C125delC, p.F147fs*18, p.L307_I308ins*, p.L50fs*18, p.L59fs*1, p.M470fs*3, p.N367fs*32, p.P201L, p.P2S, p.V141fs*8, p.Y103fs*1 | Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Insertion - In frame, Substitution - Missense | 10:86923439-86923440, | Info_not_available | 0.68307, Info_not_available | 28481359 |