| Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score | Literature evidence |
| RB1 | 9884 | COSM4990385, | oesophagus | carcinoma | p.? | Unknown | 13:48463836-48463836, | PATHOGENIC | 0.99839 | 28481359 |
| RB1 | 9884 | COSM4990385, | central_nervous_system | glioma | p.? | Unknown | 13:48463836-48463836, | PATHOGENIC | 0.99839 | 28481359 |
| RB1 | 9884 | COSM4990385, | skin | carcinoma | p.? | Unknown | 13:48463836-48463836, | PATHOGENIC | 0.99839 | 25589618 |
| RB1 | 9884 | COSM940, | ovary | carcinoma | p.K715* | Substitution - Nonsense | 13:48463767-48463767, | PATHOGENIC | 0.99817 | 25846456 |
| RB1 | 9884 | COSM940, | prostate | carcinoma | p.K715* | Substitution - Nonsense | 13:48463767-48463767, | PATHOGENIC | 0.99817 | 1986144 |
| RB1 | 9884 | COSM940, | prostate | carcinoma | p.K715* | Substitution - Nonsense | 13:48463767-48463767, | PATHOGENIC | 0.99817 | 2300823 |
| RB1 | 9884 | COSM5945307, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K729E | Substitution - Missense | 13:48463809-48463809, | PATHOGENIC | 0.99813 | 27276561 |
| RB1 | 9884 | COSM40941, | central_nervous_system | glioma | p.Y728C | Substitution - Missense | 13:48463807-48463807, | PATHOGENIC | 0.99813 | 18772396 |
| RB1 | 9884 | COSM926, | ovary | carcinoma | p.M704V | Substitution - Missense | 13:48463734-48463734, | PATHOGENIC | 0.99792 | 9194486 |
| RB1 | 9884 | COSM1042, | urinary_tract | carcinoma | p.? | Unknown | 13:48463729-48463729, | PATHOGENIC | 0.99783 | 2521957 |
| RB1 | 9884 | COSM1042, | urinary_tract | carcinoma | p.? | Unknown | 13:48463729-48463729, | PATHOGENIC | 0.99783 | 2594029 |
| RB1 | 9884 | COSM1942416, | lung | carcinoma | p.? | Unknown | 13:48463730-48463730, | PATHOGENIC | 0.99758 | 28481359 |
| RB1 | 9884 | COSM6906487, | urinary_tract | carcinoma | p.I724S | Substitution - Missense | 13:48463795-48463795, | PATHOGENIC | 0.99758 | 29420467 |
| RB1 | 9884 | COSM1942416, | breast | carcinoma | p.? | Unknown | 13:48463730-48463730, | PATHOGENIC | 0.99758 | 28685160 |
| RB1 | 9884 | COSM1942416, | upper_aerodigestive_tract | carcinoma | p.? | Unknown | 13:48463730-48463730, | PATHOGENIC | 0.99758 | 28581676 |
| RB1 | 9884 | COSM6950672, | pancreas | carcinoma | p.? | Unknown | 13:48463837-48463837, | PATHOGENIC | 0.99756 | 28481359 |
| RB1 | 9884 | COSM254912, | urinary_tract | carcinoma | p.I724N | Substitution - Missense | 13:48463795-48463795, | PATHOGENIC | 0.99755 | 21822268 |
| RB1 | 9884 | COSM5700369, | eye | retinoblastoma | p.Q736* | Substitution - Nonsense | 13:48463830-48463830, | PATHOGENIC | 0.99747 | 28481359 |
| RB1 | 9884 | COSM5700369, | upper_aerodigestive_tract | carcinoma | p.Q736* | Substitution - Nonsense | 13:48463830-48463830, | PATHOGENIC | 0.99747 | 28481359 |
| RB1 | 9884 | COSM5700369, | urinary_tract | carcinoma | p.Q736* | Substitution - Nonsense | 13:48463830-48463830, | PATHOGENIC | 0.99747 | 28481359 |
| RB1 | 9884 | COSM29529, | skin | carcinoma | p.Q471* | Substitution - Nonsense | 13:48380074-48380074, | PATHOGENIC | 0.9973 | 28481359 |
| RB1 | 9884 | COSM29529, | urinary_tract | carcinoma | p.Q471* | Substitution - Nonsense | 13:48380074-48380074, | PATHOGENIC | 0.9973 | 28481359 |
| RB1 | 9884 | COSM29529, | urinary_tract | carcinoma | p.Q471* | Substitution - Nonsense | 13:48380074-48380074, | PATHOGENIC | 0.9973 | 29420467 |
| RB1 | 9884 | COSM29529, | endometrium | carcinoma | p.Q471* | Substitution - Nonsense | 13:48380074-48380074, | PATHOGENIC | 0.9973 | 28481359 |
| RB1 | 9884 | COSM29529, | breast | carcinoma | p.Q471* | Substitution - Nonsense | 13:48380074-48380074, | PATHOGENIC | 0.9973 | 28481359 |
| RB1 | 9884 | COSM29529, | skin | malignant_melanoma | p.Q471* | Substitution - Nonsense | 13:48380074-48380074, | PATHOGENIC | 0.9973 | 18677770 |
| RB1 | 9884 | COSM29529, | lung | carcinoma | p.Q471* | Substitution - Nonsense | 13:48380074-48380074, | PATHOGENIC | 0.9973 | 28481359 |
| RB1 | 9884 | COSM29529, | salivary_gland | carcinoma | p.Q471* | Substitution - Nonsense | 13:48380074-48380074, | PATHOGENIC | 0.9973 | 27334835 |
| RB1 | 9884 | COSM29529, | lung | carcinoma | p.Q471* | Substitution - Nonsense | 13:48380074-48380074, | PATHOGENIC | 0.9973 | 28481359 |
| RB1 | 9884 | COSM5700986, | lung | carcinoma | p.E837* | Substitution - Nonsense | 13:48473379-48473379, | PATHOGENIC | 0.99723 | 26168399 |
| RB1 | 9884 | COSM5693393, | urinary_tract | carcinoma | p.? | Unknown | 13:48473391-48473391, | PATHOGENIC | 0.99723 | 28481359 |
| RB1 | 9884 | COSM5610463, | skin | malignant_melanoma | p.G840V | Substitution - Missense | 13:48473389-48473389, | PATHOGENIC | 0.99723 | 26343386 |
| RB1 | 9884 | COSM882, | eye | retinoblastoma | p.D718N | Substitution - Missense | 13:48463776-48463776, | PATHOGENIC | 0.99719 | 12402348 |
| RB1 | 9884 | COSM6979514, | endometrium | carcinoma | p.I711T | Substitution - Missense | 13:48463756-48463756, | PATHOGENIC | 0.99698 | 28481359 |
| RB1 | 9884 | COSM254916, | urinary_tract | carcinoma | p.? | Unknown | 13:48381444-48381444, | PATHOGENIC | 0.99689 | 21822268 |
| RB1 | 9884 | COSM13739, | central_nervous_system | glioma | p.? | Unknown | 13:48473391-48473391, | PATHOGENIC | 0.99685 | 28481359 |
| RB1 | 9884 | COSM6921040, | skin | malignant_melanoma | p.? | Unknown | 13:48473359-48473359, | PATHOGENIC | 0.99685 | 28481359 |
| RB1 | 9884 | COSM6921040, | urinary_tract | carcinoma | p.? | Unknown | 13:48473359-48473359, | PATHOGENIC | 0.99685 | 28481359 |
| RB1 | 9884 | COSM13739, | lung | carcinoma | p.? | Unknown | 13:48473391-48473391, | PATHOGENIC | 0.99685 | 28481359 |
| RB1 | 9884 | COSM6942570, | urinary_tract | carcinoma | p.? | Unknown | 13:48473358-48473358, | PATHOGENIC | 0.99657 | 28481359 |
| RB1 | 9884 | COSM6942570, | urinary_tract | carcinoma | p.? | Unknown | 13:48473358-48473358, | PATHOGENIC | 0.99657 | 28481359 |
| RB1 | 9884 | COSM6942570, | urinary_tract | carcinoma | p.? | Unknown | 13:48473358-48473358, | PATHOGENIC | 0.99657 | 28481359 |
| RB1 | 9884 | COSM49011, | urinary_tract | carcinoma | p.? | Unknown | 13:48463730-48463730, | PATHOGENIC | 0.99648 | 28481359 |
| RB1 | 9884 | COSM49011, | lung | carcinoma | p.? | Unknown | 13:48463730-48463730, | PATHOGENIC | 0.99648 | 18948947 |
| RB1 | 9884 | COSM6922951, | skin | malignant_melanoma | p.Y454C | Substitution - Missense | 13:48379622-48379622, | PATHOGENIC | 0.99637 | 28481359 |
| RB1 | 9884 | COSM254911, | urinary_tract | carcinoma | p.? | Unknown | 13:48465369-48465369, | PATHOGENIC | 0.99591 | 21822268 |
| RB1 | 9884 | COSM1942322, | urinary_tract | carcinoma | p.Q444L | Substitution - Missense | 13:48377033-48377033, | PATHOGENIC | 0.99591 | 28481359 |
| RB1 | 9884 | COSM5546624, | breast | carcinoma | p.M457R | Substitution - Missense | 13:48379631-48379631, | PATHOGENIC | 0.9957 | 26527317 |
| RB1 | 9884 | COSM5546624, | breast | carcinoma | p.M457R | Substitution - Missense | 13:48379631-48379631, | PATHOGENIC | 0.9957 | 26527317 |
| RB1 | 9884 | COSM23825, | lung | carcinoma | p.S834* | Substitution - Nonsense | 13:48473371-48473371, | PATHOGENIC | 0.99566 | 28481359 |
| RB1 | 9884 | COSM23825, | urinary_tract | carcinoma | p.S834* | Substitution - Nonsense | 13:48473371-48473371, | PATHOGENIC | 0.99566 | 28481359 |
| RB1 | 9884 | COSM1942320, | soft_tissue | leiomyosarcoma | p.Q444R | Substitution - Missense | 13:48377033-48377033, | PATHOGENIC | 0.99559 | 28481359 |
| RB1 | 9884 | COSM6950973, | breast | carcinoma | p.S838* | Substitution - Nonsense | 13:48473383-48473383, | PATHOGENIC | 0.99553 | 28481359 |
| RB1 | 9884 | COSM6936009, | skin | carcinoma | p.E465* | Substitution - Nonsense | 13:48380056-48380056, | PATHOGENIC | 0.9955 | 28481359 |
| RB1 | 9884 | COSM6957971, | lung | carcinoma | p.L832* | Substitution - Nonsense | 13:48473365-48473365, | PATHOGENIC | 0.9953 | 28481359 |
| RB1 | 9884 | COSM5677124, | upper_aerodigestive_tract | carcinoma | p.? | Unknown | 13:48465369-48465369, | PATHOGENIC | 0.99515 | 28493366 |
| RB1 | 9884 | COSM5677124, | central_nervous_system | glioma | p.? | Unknown | 13:48465369-48465369, | PATHOGENIC | 0.99515 | 28481359 |
| RB1 | 9884 | COSM3469150, | skin | adnexal_tumour | p.L461P | Substitution - Missense | 13:48379643-48379643, | PATHOGENIC | 0.99495 | 27311873 |
| RB1 | 9884 | COSM6191615, | large_intestine | carcinoma | p.D730V | Substitution - Missense | 13:48463813-48463813, | PATHOGENIC | 0.99475 | 25617745 |
| RB1 | 9884 | COSM6950929, | lung | carcinoma | p.? | Unknown | 13:48381445-48381445, | PATHOGENIC | 0.99448 | 28481359 |
| RB1 | 9884 | COSM35350, | lung | carcinoma | p.? | Unknown | 13:48459687-48459687, | PATHOGENIC | 0.99427 | 28481359 |
| RB1 | 9884 | COSM1012, | lung | carcinoma | p.? | Unknown | 13:48381445-48381445, | PATHOGENIC | 0.99407 | 8302602 |
| RB1 | 9884 | COSM323002, | urinary_tract | carcinoma | p.S829* | Substitution - Nonsense | 13:48465365-48465365, | PATHOGENIC | 0.99398 | 28481359 |
| RB1 | 9884 | COSM1731418, | NS | carcinoma | p.E675* | Substitution - Nonsense | 13:48459750-48459750, | PATHOGENIC | 0.99377 | 28481359 |
| RB1 | 9884 | COSM5686463, | eye | retinoblastoma | p.Q631* | Substitution - Nonsense | 13:48456280-48456280, | PATHOGENIC | 0.99352 | 28481359 |
| RB1 | 9884 | COSM1030, | cervix | carcinoma | p.? | Unknown | 13:48459687-48459687, | PATHOGENIC | 0.9935 | 1648218 |
| RB1 | 9884 | COSM1030, | eye | retinoblastoma | p.? | Unknown | 13:48459687-48459687, | PATHOGENIC | 0.9935 | 22237022 |
| RB1 | 9884 | COSM932, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.Q444H | Substitution - Missense | 13:48377034-48377034, | PATHOGENIC | 0.99333 | 11103795 |
| RB1 | 9884 | COSM6005787, | skin | adnexal_tumour | p.E492Q | Substitution - Missense | 13:48380217-48380217, | PATHOGENIC | 0.9933 | 27287813 |
| RB1 | 9884 | COSM6005787, | skin | adnexal_tumour | p.E492Q | Substitution - Missense | 13:48380217-48380217, | PATHOGENIC | 0.9933 | 27287813 |
| RB1 | 9884 | COSM6005787, | skin | adnexal_tumour | p.E492Q | Substitution - Missense | 13:48380217-48380217, | PATHOGENIC | 0.9933 | 27287813 |
| RB1 | 9884 | COSM6005787, | skin | adnexal_tumour | p.E492Q | Substitution - Missense | 13:48380217-48380217, | PATHOGENIC | 0.9933 | 27287813 |
| RB1 | 9884 | COSM6921301, | soft_tissue | leiomyosarcoma | p.? | Unknown | 13:48380242-48380242, | PATHOGENIC | 0.99323 | 28481359 |
| RB1 | 9884 | COSM1013, | thyroid | adenoma-nodule-goitre | p.? | Unknown | 13:48379651-48379651, | PATHOGENIC | 0.99315 | 28481359 |
| RB1 | 9884 | COSM1013, | eye | retinoblastoma | p.? | Unknown | 13:48379651-48379651, | PATHOGENIC | 0.99315 | 12402348 |
| RB1 | 9884 | COSM3469156, | breast | other | p.? | Unknown | 13:48459686-48459686, | PATHOGENIC | 0.99305 | 26437033 |
| RB1 | 9884 | COSM6939092, | skin | malignant_melanoma | p.S829L | Substitution - Missense | 13:48465365-48465365, | PATHOGENIC | 0.99303 | 28481359 |
| RB1 | 9884 | COSM4428412, | NS | malignant_melanoma | p.R661Q | Substitution - Missense | 13:48459709-48459709, | PATHOGENIC | 0.99293 | 25148578 |
| RB1 | 9884 | COSM6953277, | urinary_tract | carcinoma | p.E492* | Substitution - Nonsense | 13:48380217-48380217, | PATHOGENIC | 0.99284 | 28481359 |
| RB1 | 9884 | COSM6953277, | urinary_tract | carcinoma | p.E492* | Substitution - Nonsense | 13:48380217-48380217, | PATHOGENIC | 0.99284 | 28481359 |
| RB1 | 9884 | COSM317961, | lung | carcinoma | p.? | Unknown | 13:48379651-48379651, | PATHOGENIC | 0.99284 | 22941188 |
| RB1 | 9884 | COSM6924392, | urinary_tract | carcinoma | p.? | Unknown | 13:48456350-48456350, | PATHOGENIC | 0.99281 | 28481359 |
| RB1 | 9884 | COSM6925473, | urinary_tract | carcinoma | p.? | Unknown | 13:48380242-48380242, | PATHOGENIC | 0.99276 | 28481359 |
| RB1 | 9884 | COSM6935466, | endometrium | carcinoma | p.K653T | Substitution - Missense | 13:48456347-48456347, | PATHOGENIC | 0.99263 | 28481359 |
| RB1 | 9884 | COSM5991648, | breast | carcinoma | p.? | Unknown | 13:48380085-48380085, | PATHOGENIC | 0.99252 | 25927147 |
| RB1 | 9884 | COSM5991648, | large_intestine | carcinoma | p.? | Unknown | 13:48380085-48380085, | PATHOGENIC | 0.99252 | 28481359 |
| RB1 | 9884 | COSM6981304, | lung | carcinoma | p.S459C | Substitution - Missense | 13:48379637-48379637, | PATHOGENIC | 0.99252 | 28481359 |
| RB1 | 9884 | COSM1942392, | central_nervous_system | glioma | p.K652* | Substitution - Nonsense | 13:48456343-48456343, | PATHOGENIC | 0.99242 | 28481359 |
| RB1 | 9884 | COSM6975589, | lung | carcinoma | p.? | Unknown | 13:48459686-48459686, | PATHOGENIC | 0.99231 | 28481359 |
| RB1 | 9884 | COSM326323, | lung | carcinoma | p.G435* | Substitution - Nonsense | 13:48377005-48377005, | PATHOGENIC | 0.9923 | 28481359 |
| RB1 | 9884 | COSM6931556, | breast | carcinoma | p.? | Unknown | 13:48376917-48376917, | PATHOGENIC | 0.9923 | 28481359 |
| RB1 | 9884 | COSM326323, | lung | carcinoma | p.G435* | Substitution - Nonsense | 13:48377005-48377005, | PATHOGENIC | 0.9923 | 28481359 |
| RB1 | 9884 | COSM6984014, | lung | carcinoma | p.? | Unknown | 13:48380085-48380085, | PATHOGENIC | 0.99211 | 28481359 |
| RB1 | 9884 | COSM6908838, | lung | carcinoma | p.? | Unknown | 13:48380164-48380164, | PATHOGENIC | 0.99171 | 28481359 |
| RB1 | 9884 | COSM1016, | eye | retinoblastoma | p.? | Unknown | 13:48456350-48456350, | PATHOGENIC | 0.99154 | 9311732 |
| RB1 | 9884 | COSM1016, | soft_tissue | leiomyosarcoma | p.? | Unknown | 13:48456350-48456350, | PATHOGENIC | 0.99154 | 28481359 |
| RB1 | 9884 | COSM317959, | lung | carcinoma | p.? | Unknown | 13:48380163-48380163, | PATHOGENIC | 0.99125 | 22941188 |
| RB1 | 9884 | COSM317959, | skin | carcinoma | p.? | Unknown | 13:48380163-48380163, | PATHOGENIC | 0.99125 | 28481359 |
| RB1 | 9884 | COSM3936346, | stomach | carcinoma | p.? | Unknown | 13:48464997-48464997, | PATHOGENIC | 0.99122 | 28481359 |
| RB1 | 9884 | COSM6954670, | lung | carcinoma | p.E737* | Substitution - Nonsense | 13:48463833-48463833, | PATHOGENIC | 0.99116 | 28481359 |
| RB1 | 9884 | COSM1041, | eye | retinoblastoma | p.? | Unknown | 13:48367604-48367604, | PATHOGENIC | 0.99101 | 2594029 |
| RB1 | 9884 | COSM14211, | prostate | carcinoma | p.? | Unknown | 13:48376917-48376917, | PATHOGENIC | 0.99096 | 28481359 |
| RB1 | 9884 | COSM14211, | lung | carcinoma | p.? | Unknown | 13:48376917-48376917, | PATHOGENIC | 0.99096 | 28481359 |
| RB1 | 9884 | COSM14211, | breast | carcinoma | p.? | Unknown | 13:48376917-48376917, | PATHOGENIC | 0.99096 | 28481359 |
| RB1 | 9884 | COSM3733492, | thyroid | carcinoma | p.L512* | Substitution - Nonsense | 13:48381283-48381283, | PATHOGENIC | 0.99064 | 28481359 |
| RB1 | 9884 | COSM3733492, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L512* | Substitution - Nonsense | 13:48381283-48381283, | PATHOGENIC | 0.99064 | 24682267 |
| RB1 | 9884 | COSM3733492, | central_nervous_system | glioma | p.L512* | Substitution - Nonsense | 13:48381283-48381283, | PATHOGENIC | 0.99064 | 28481359 |
| RB1 | 9884 | COSM1014, | eye | retinoblastoma | p.? | Unknown | 13:48376916-48376916, | PATHOGENIC | 0.9906 | 9311732 |
| RB1 | 9884 | COSM1014, | pancreas | carcinoma | p.? | Unknown | 13:48376916-48376916, | PATHOGENIC | 0.9906 | 22251937 |
| RB1 | 9884 | COSM13479, | lung | carcinoma | p.E440* | Substitution - Nonsense | 13:48377020-48377020, | PATHOGENIC | 0.99056 | 22941188 |
| RB1 | 9884 | COSM13479, | lung | carcinoma | p.E440* | Substitution - Nonsense | 13:48377020-48377020, | PATHOGENIC | 0.99056 | 18948947 |
| RB1 | 9884 | COSM6939785, | breast | carcinoma | p.S463* | Substitution - Nonsense | 13:48379649-48379649, | PATHOGENIC | 0.99051 | 28481359 |
| RB1 | 9884 | COSM1659143, | breast | carcinoma | p.E693* | Substitution - Nonsense | 13:48459804-48459804, | PATHOGENIC | 0.99045 | 23575477 |
| RB1 | 9884 | COSM1659143, | breast | carcinoma | p.E693* | Substitution - Nonsense | 13:48459804-48459804, | PATHOGENIC | 0.99045 | 23575477 |
| RB1 | 9884 | COSM317962, | eye | retinoblastoma | p.? | Unknown | 13:48459834-48459834, | PATHOGENIC | 0.99045 | 28481359 |
| RB1 | 9884 | COSM6924591, | lung | carcinoma | p.D701Y | Substitution - Missense | 13:48459828-48459828, | PATHOGENIC | 0.99045 | 28481359 |
| RB1 | 9884 | COSM6919084, | lung | carcinoma | p.W563C | Substitution - Missense | 13:48381437-48381437, | PATHOGENIC | 0.99022 | 28481359 |
| RB1 | 9884 | COSM1322863, | breast | carcinoma | p.A562P | Substitution - Missense | 13:48381432-48381432, | PATHOGENIC | 0.99022 | 28270497 |
| RB1 | 9884 | COSM6959291, | lung | carcinoma | p.? | Unknown | 13:48465204-48465204, | PATHOGENIC | 0.98983 | 28481359 |
| RB1 | 9884 | COSM6935464, | endometrium | carcinoma | p.S644Y | Substitution - Missense | 13:48456320-48456320, | PATHOGENIC | 0.98979 | 28481359 |
| RB1 | 9884 | COSM6972179, | NS | carcinoma | p.S501C | Substitution - Missense | 13:48381249-48381249, | PATHOGENIC | 0.9897 | 28481359 |
| RB1 | 9884 | COSM1034, | bone | osteosarcoma | p.? | Unknown | 13:48381246-48381246, | PATHOGENIC | 0.98966 | 9559293 |
| RB1 | 9884 | COSM1034, | bone | osteosarcoma | p.? | Unknown | 13:48381246-48381246, | PATHOGENIC | 0.98966 | 9559293 |
| RB1 | 9884 | COSM6927229, | breast | carcinoma | p.S565* | Substitution - Nonsense | 13:48381442-48381442, | PATHOGENIC | 0.98956 | 28481359 |
| RB1 | 9884 | COSM4990383, | skin | carcinoma | p.E737E | Substitution - coding silent | 13:48463835-48463835, | PATHOGENIC | 0.98952 | 25589618 |
| RB1 | 9884 | COSM865, | lung | carcinoma | p.H673P | Substitution - Missense | 13:48459745-48459745, | PATHOGENIC | 0.98932 | 8302602 |
| RB1 | 9884 | COSM947795, | breast | carcinoma | p.E545* | Substitution - Nonsense | 13:48381381-48381381, | PATHOGENIC | 0.98929 | 27284958 |
| RB1 | 9884 | COSM6925130, | lung | carcinoma | p.E551* | Substitution - Nonsense | 13:48381399-48381399, | PATHOGENIC | 0.98929 | 28481359 |
| RB1 | 9884 | COSM6906515, | NS | NS | p.E539* | Substitution - Nonsense | 13:48381363-48381363, | PATHOGENIC | 0.98929 | 29420467 |
| RB1 | 9884 | COSM13141, | breast | other | p.E533* | Substitution - Nonsense | 13:48381345-48381345, | PATHOGENIC | 0.98929 | 25593300 |
| RB1 | 9884 | COSM6503563, | pancreas | carcinoid-endocrine_tumour | p.V742I | Substitution - Missense | 13:48465010-48465010, | PATHOGENIC | 0.98928 | 27994516 |
| RB1 | 9884 | COSM6503562, | pancreas | carcinoid-endocrine_tumour | p.E746K | Substitution - Missense | 13:48465022-48465022, | PATHOGENIC | 0.98928 | 27994516 |
| RB1 | 9884 | COSM883, | lung | carcinoma | p.C706F | Substitution - Missense | 13:48463741-48463741, | PATHOGENIC | 0.98918 | 2168563 |
| RB1 | 9884 | COSM883, | lung | carcinoma | p.C706F | Substitution - Missense | 13:48463741-48463741, | PATHOGENIC | 0.98918 | 2288878 |
| RB1 | 9884 | COSM883, | breast | other | p.C706F | Substitution - Missense | 13:48463741-48463741, | PATHOGENIC | 0.98918 | 26832993 |
| RB1 | 9884 | COSM5574309, | skin | malignant_melanoma | p.S463L | Substitution - Missense | 13:48379649-48379649, | PATHOGENIC | 0.98912 | 25452114 |
| RB1 | 9884 | COSM5574309, | skin | malignant_melanoma | p.S463L | Substitution - Missense | 13:48379649-48379649, | PATHOGENIC | 0.98912 | 25452114 |
| RB1 | 9884 | COSM6909046, | lung | carcinoma | p.L647R | Substitution - Missense | 13:48456329-48456329, | PATHOGENIC | 0.98904 | 28481359 |
| RB1 | 9884 | COSM6201636, | kidney | carcinoma | p.? | Unknown | 13:48456351-48456351, | PATHOGENIC | 0.98904 | 26895810 |
| RB1 | 9884 | COSM6201636, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.? | Unknown | 13:48456351-48456351, | PATHOGENIC | 0.98904 | 28481359 |
| RB1 | 9884 | COSM39454, | central_nervous_system | glioma | p.? | Unknown | 13:48464997-48464997, | PATHOGENIC | 0.98903 | 18772396 |
| RB1 | 9884 | COSM39454, | lung | carcinoma | p.? | Unknown | 13:48464997-48464997, | PATHOGENIC | 0.98903 | 28481359 |
| RB1 | 9884 | COSM6908592, | lung | carcinoma | p.W681* | Substitution - Nonsense | 13:48459769-48459769, | PATHOGENIC | 0.98903 | 28481359 |
| RB1 | 9884 | COSM6910009, | urinary_tract | carcinoma | p.M695I | Substitution - Missense | 13:48459812-48459812, | PATHOGENIC | 0.98903 | 28481359 |
| RB1 | 9884 | COSM6908592, | upper_aerodigestive_tract | carcinoma | p.W681* | Substitution - Nonsense | 13:48459769-48459769, | PATHOGENIC | 0.98903 | 28581676 |
| RB1 | 9884 | COSM6908592, | thyroid | carcinoma | p.W681* | Substitution - Nonsense | 13:48459769-48459769, | PATHOGENIC | 0.98903 | 28481359 |
| RB1 | 9884 | COSM866, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R467* | Substitution - Nonsense | 13:48380062-48380062, | PATHOGENIC | 0.98897 | 26647218 |
| RB1 | 9884 | COSM866, | central_nervous_system | glioma | p.R467* | Substitution - Nonsense | 13:48380062-48380062, | PATHOGENIC | 0.98897 | 28481359 |
| RB1 | 9884 | COSM866, | breast | carcinoma | p.R467* | Substitution - Nonsense | 13:48380062-48380062, | PATHOGENIC | 0.98897 | 28481359 |
| RB1 | 9884 | COSM866, | soft_tissue | leiomyosarcoma | p.R467* | Substitution - Nonsense | 13:48380062-48380062, | PATHOGENIC | 0.98897 | 28481359 |
| RB1 | 9884 | COSM866, | large_intestine | carcinoma | p.R467* | Substitution - Nonsense | 13:48380062-48380062, | PATHOGENIC | 0.98897 | 28481359 |
| RB1 | 9884 | COSM866, | urinary_tract | carcinoma | p.R467* | Substitution - Nonsense | 13:48380062-48380062, | PATHOGENIC | 0.98897 | 28481359 |
| RB1 | 9884 | COSM6909836, | lung | carcinoma | p.C706Y | Substitution - Missense | 13:48463741-48463741, | PATHOGENIC | 0.98897 | 28481359 |
| RB1 | 9884 | COSM866, | bone | osteosarcoma | p.R467* | Substitution - Nonsense | 13:48380062-48380062, | PATHOGENIC | 0.98897 | 8187094 |
| RB1 | 9884 | COSM866, | stomach | carcinoma | p.R467* | Substitution - Nonsense | 13:48380062-48380062, | PATHOGENIC | 0.98897 | 28481359 |
| RB1 | 9884 | COSM866, | skin | carcinoma | p.R467* | Substitution - Nonsense | 13:48380062-48380062, | PATHOGENIC | 0.98897 | 28481359 |
| RB1 | 9884 | COSM6914920, | endometrium | carcinoma | p.A658V | Substitution - Missense | 13:48459700-48459700, | PATHOGENIC | 0.98869 | 28481359 |
| RB1 | 9884 | COSM6910278, | urinary_tract | carcinoma | p.P609S | Substitution - Missense | 13:48456214-48456214, | PATHOGENIC | 0.98865 | 28481359 |
| RB1 | 9884 | COSM871, | prostate | carcinoma | p.S612P | Substitution - Missense | 13:48456223-48456223, | PATHOGENIC | 0.98847 | 7501543 |
| RB1 | 9884 | COSM6506791, | cervix | carcinoma | p.K715N | Substitution - Missense | 13:48463769-48463769, | PATHOGENIC | 0.98844 | 28731050 |
| RB1 | 9884 | COSM241369, | large_intestine | carcinoma | p.? | Unknown | 13:48465204-48465204, | PATHOGENIC | 0.98832 | 28481359 |
| RB1 | 9884 | COSM6938137, | upper_aerodigestive_tract | carcinoma | p.S807* | Substitution - Nonsense | 13:48465299-48465299, | PATHOGENIC | 0.98828 | 28481359 |
| RB1 | 9884 | COSM6938137, | lung | carcinoma | p.S807* | Substitution - Nonsense | 13:48465299-48465299, | PATHOGENIC | 0.98828 | 28481359 |
| RB1 | 9884 | COSM6976935, | lung | carcinoma | p.? | Unknown | 13:48381245-48381245, | PATHOGENIC | 0.98821 | 28481359 |
| RB1 | 9884 | COSM5610465, | skin | malignant_melanoma | p.R908L | Substitution - Missense | 13:48480007-48480007, | PATHOGENIC | 0.98815 | 26343386 |
| RB1 | 9884 | COSM1026, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.? | Unknown | 13:48465203-48465203, | PATHOGENIC | 0.98812 | 11103795 |
| RB1 | 9884 | COSM1026, | eye | retinoblastoma | p.? | Unknown | 13:48465203-48465203, | PATHOGENIC | 0.98812 | 12955724 |
| RB1 | 9884 | COSM327254, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y659H | Substitution - Missense | 13:48459702-48459702, | PATHOGENIC | 0.98809 | 22675565 |
| RB1 | 9884 | COSM6995432, | ovary | germ_cell_tumour | p.L647F | Substitution - Missense | 13:48456328-48456328, | PATHOGENIC | 0.98794 | 28954785 |
| RB1 | 9884 | COSM6763467, | large_intestine | carcinoma | p.E533K | Substitution - Missense | 13:48381345-48381345, | PATHOGENIC | 0.98778 | 28481359 |
| RB1 | 9884 | COSM6987545, | breast | carcinoma | p.E554K | Substitution - Missense | 13:48381408-48381408, | PATHOGENIC | 0.98778 | 28481359 |
| RB1 | 9884 | COSM6763467, | large_intestine | carcinoma | p.E533K | Substitution - Missense | 13:48381345-48381345, | PATHOGENIC | 0.98778 | 28481359 |
| RB1 | 9884 | COSM1367257, | thyroid | carcinoma | p.W563* | Substitution - Nonsense | 13:48381436-48381436, | PATHOGENIC | 0.98778 | 28481359 |
| RB1 | 9884 | COSM48894, | lung | carcinoma | p.W563* | Substitution - Nonsense | 13:48381437-48381437, | PATHOGENIC | 0.98778 | 18948947 |
| RB1 | 9884 | COSM1367257, | skin | carcinoma | p.W563* | Substitution - Nonsense | 13:48381436-48381436, | PATHOGENIC | 0.98778 | 28481359 |
| RB1 | 9884 | COSM326321, | adrenal_gland | adrenal_cortical_carcinoma | p.L665R | Substitution - Missense | 13:48459721-48459721, | PATHOGENIC | 0.98761 | 24747643 |
| RB1 | 9884 | COSM6963759, | soft_tissue | gastrointestinal_stromal_tumour | p.L477R | Substitution - Missense | 13:48380173-48380173, | PATHOGENIC | 0.98752 | 28481359 |
| RB1 | 9884 | COSM6922102, | central_nervous_system | glioma | p.? | Unknown | 13:48380052-48380052, | PATHOGENIC | 0.98737 | 28481359 |
| RB1 | 9884 | COSM6922102, | skin | carcinoma | p.? | Unknown | 13:48380052-48380052, | PATHOGENIC | 0.98737 | 28481359 |
| RB1 | 9884 | COSM6987623, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D701V | Substitution - Missense | 13:48459829-48459829, | PATHOGENIC | 0.98717 | 28481359 |
| RB1 | 9884 | COSM4940255, | lung | carcinoma | p.? | Unknown | 13:48379652-48379652, | PATHOGENIC | 0.98709 | 28481359 |
| RB1 | 9884 | COSM1040, | eye | retinoblastoma | p.? | Unknown | 13:48456351-48456351, | PATHOGENIC | 0.98709 | 2594029 |
| RB1 | 9884 | COSM6970261, | lung | carcinoma | p.? | Unknown | 13:48465203-48465203, | PATHOGENIC | 0.98703 | 28481359 |
| RB1 | 9884 | COSM6915686, | large_intestine | carcinoma | p.Q504P | Substitution - Missense | 13:48381259-48381259, | PATHOGENIC | 0.98688 | 28481359 |
| RB1 | 9884 | COSM254910, | urinary_tract | carcinoma | p.K765* | Substitution - Nonsense | 13:48465079-48465079, | PATHOGENIC | 0.98687 | 21822268 |
| RB1 | 9884 | COSM6438193, | large_intestine | carcinoma | p.M761L | Substitution - Missense | 13:48465067-48465067, | PATHOGENIC | 0.98687 | 27756406 |
| RB1 | 9884 | COSM1644939, | salivary_gland | carcinoma | p.Y606C | Substitution - Missense | 13:48456206-48456206, | PATHOGENIC | 0.98687 | 28481359 |
| RB1 | 9884 | COSM6970063, | large_intestine | carcinoma | p.K740E | Substitution - Missense | 13:48465004-48465004, | PATHOGENIC | 0.98683 | 28481359 |
| RB1 | 9884 | COSM6924261, | urinary_tract | carcinoma | p.? | Unknown | 13:48465203-48465203, | PATHOGENIC | 0.98665 | 28481359 |
| RB1 | 9884 | COSM6924261, | pancreas | carcinoma | p.? | Unknown | 13:48465203-48465203, | PATHOGENIC | 0.98665 | 28481359 |
| RB1 | 9884 | COSM254915, | pancreas | carcinoma | p.A488V | Substitution - Missense | 13:48380206-48380206, | PATHOGENIC | 0.98643 | 27203738 |
| RB1 | 9884 | COSM254915, | urinary_tract | carcinoma | p.A488V | Substitution - Missense | 13:48380206-48380206, | PATHOGENIC | 0.98643 | 21822268 |
| RB1 | 9884 | COSM254915, | large_intestine | carcinoma | p.A488V | Substitution - Missense | 13:48380206-48380206, | PATHOGENIC | 0.98643 | 28481359 |
| RB1 | 9884 | COSM212665, | urinary_tract | carcinoma | p.E747* | Substitution - Nonsense | 13:48465025-48465025, | PATHOGENIC | 0.98628 | 28481359 |
| RB1 | 9884 | COSM1942317, | liver | carcinoma | p.Q436* | Substitution - Nonsense | 13:48377008-48377008, | PATHOGENIC | 0.98555 | 28481359 |
| RB1 | 9884 | COSM6941518, | breast | carcinoma | p.S751C | Substitution - Missense | 13:48465038-48465038, | PATHOGENIC | 0.98554 | 28481359 |
| RB1 | 9884 | COSM6915158, | lung | carcinoma | p.K530I | Substitution - Missense | 13:48381337-48381337, | PATHOGENIC | 0.98513 | 28481359 |
| RB1 | 9884 | COSM6914867, | large_intestine | carcinoma | p.E691* | Substitution - Nonsense | 13:48459798-48459798, | PATHOGENIC | 0.98488 | 28481359 |
| RB1 | 9884 | COSM6947508, | urinary_tract | carcinoma | p.L491P | Substitution - Missense | 13:48380215-48380215, | PATHOGENIC | 0.98482 | 28481359 |
| RB1 | 9884 | COSM3399399, | lung | carcinoma | p.L779* | Substitution - Nonsense | 13:48465215-48465215, | PATHOGENIC | 0.98471 | 28481359 |
| RB1 | 9884 | COSM889, | eye | retinoblastoma | p.K720* | Substitution - Nonsense | 13:48463782-48463782, | PATHOGENIC | 0.98462 | 9311732 |
| RB1 | 9884 | COSM76180, | NS | malignant_melanoma | p.Q702K | Substitution - Missense | 13:48459831-48459831, | PATHOGENIC | 0.9846 | 28481359 |
| RB1 | 9884 | COSM6958955, | upper_aerodigestive_tract | carcinoma | p.E747K | Substitution - Missense | 13:48465025-48465025, | PATHOGENIC | 0.98451 | 28481359 |
| RB1 | 9884 | COSM6924891, | lung | carcinoma | p.K615* | Substitution - Nonsense | 13:48456232-48456232, | PATHOGENIC | 0.98427 | 28481359 |
| RB1 | 9884 | COSM95653, | thyroid | carcinoma | p.Y728* | Substitution - Nonsense | 13:48463808-48463808, | PATHOGENIC | 0.98424 | 28481359 |
| RB1 | 9884 | COSM95653, | lung | carcinoma | p.Y728* | Substitution - Nonsense | 13:48463808-48463808, | PATHOGENIC | 0.98424 | 20668451 |
| RB1 | 9884 | COSM4215369, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.W516* | Substitution - Nonsense | 13:48381296-48381296, | PATHOGENIC | 0.98405 | 27276561 |
| RB1 | 9884 | COSM6878797, | upper_aerodigestive_tract | carcinoma | p.S795L | Substitution - Missense | 13:48465263-48465263, | PATHOGENIC | 0.98405 | 28481359 |
| RB1 | 9884 | COSM4215369, | lung | carcinoma | p.W516* | Substitution - Nonsense | 13:48381296-48381296, | PATHOGENIC | 0.98405 | 28481359 |
| RB1 | 9884 | COSM4215369, | pancreas | carcinoma | p.W516* | Substitution - Nonsense | 13:48381296-48381296, | PATHOGENIC | 0.98405 | 28481359 |
| RB1 | 9884 | COSM4215369, | skin | carcinoma | p.W516* | Substitution - Nonsense | 13:48381296-48381296, | PATHOGENIC | 0.98405 | 28481359 |
| RB1 | 9884 | COSM4384829, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P786S | Substitution - Missense | 13:48465235-48465235, | PATHOGENIC | 0.98341 | 24030381 |
| RB1 | 9884 | COSM4384829, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P786S | Substitution - Missense | 13:48465235-48465235, | PATHOGENIC | 0.98341 | 24030381 |
| RB1 | 9884 | COSM5020253, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A525G | Substitution - Missense | 13:48381322-48381322, | PATHOGENIC | 0.98323 | 27534895 |
| RB1 | 9884 | COSM5020253, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A525G | Substitution - Missense | 13:48381322-48381322, | PATHOGENIC | 0.98323 | 27534895 |
| RB1 | 9884 | COSM5020253, | soft_tissue | haemangioblastoma | p.A525G | Substitution - Missense | 13:48381322-48381322, | PATHOGENIC | 0.98323 | 25589003 |
| RB1 | 9884 | COSM5944164, | bone | osteosarcoma | p.E677* | Substitution - Nonsense | 13:48459756-48459756, | PATHOGENIC | 0.98283 | 27499911 |
| RB1 | 9884 | COSM6955591, | urinary_tract | carcinoma | p.L719F | Substitution - Missense | 13:48463779-48463779, | PATHOGENIC | 0.98253 | 28481359 |
| RB1 | 9884 | COSM254913, | endometrium | carcinoma | p.E440K | Substitution - Missense | 13:48377020-48377020, | PATHOGENIC | 0.98249 | 28481359 |
| RB1 | 9884 | COSM254913, | urinary_tract | carcinoma | p.E440K | Substitution - Missense | 13:48377020-48377020, | PATHOGENIC | 0.98249 | 21822268 |
| RB1 | 9884 | COSM254913, | endometrium | carcinoma | p.E440K | Substitution - Missense | 13:48377020-48377020, | PATHOGENIC | 0.98249 | 28481359 |
| RB1 | 9884 | COSM1636648, | eye | retinoblastoma | p.? | Unknown | 13:48459835-48459835, | PATHOGENIC | 0.98238 | 23715307 |
| RB1 | 9884 | COSM6958953, | upper_aerodigestive_tract | carcinoma | p.F721L | Substitution - Missense | 13:48463787-48463787, | PATHOGENIC | 0.98232 | 28481359 |
| RB1 | 9884 | COSM947802, | skin | malignant_melanoma | p.F755I | Substitution - Missense | 13:48465049-48465049, | PATHOGENIC | 0.98139 | 28481359 |
| RB1 | 9884 | COSM3955644, | breast | carcinoma | p.M695K | Substitution - Missense | 13:48459811-48459811, | PATHOGENIC | 0.98133 | 28481359 |
| RB1 | 9884 | COSM6921251, | urinary_tract | carcinoma | p.? | Unknown | 13:48459835-48459835, | PATHOGENIC | 0.98133 | 28481359 |
| RB1 | 9884 | COSM13117, | lung | carcinoma | p.Q685* | Substitution - Nonsense | 13:48459780-48459780, | PATHOGENIC | 0.98032 | 28481359 |
| RB1 | 9884 | COSM13117, | lung | carcinoma | p.Q685* | Substitution - Nonsense | 13:48459780-48459780, | PATHOGENIC | 0.98032 | 28481359 |
| RB1 | 9884 | COSM6438180, | large_intestine | carcinoma | p.T687I | Substitution - Missense | 13:48459787-48459787, | PATHOGENIC | 0.98032 | 27756406 |
| RB1 | 9884 | COSM22911, | upper_aerodigestive_tract | carcinoma | p.Q702* | Substitution - Nonsense | 13:48459831-48459831, | PATHOGENIC | 0.98032 | 28581676 |
| RB1 | 9884 | COSM13117, | eye | retinoblastoma | p.Q685* | Substitution - Nonsense | 13:48459780-48459780, | PATHOGENIC | 0.98032 | 23715307 |
| RB1 | 9884 | COSM6971523, | breast | carcinoma | p.K4* | Substitution - Nonsense | 13:48303922-48303922, | PATHOGENIC | 0.98014 | 28481359 |
| RB1 | 9884 | COSM176711, | large_intestine | carcinoma | p.R451C | Substitution - Missense | 13:48379612-48379612, | PATHOGENIC | 0.98012 | 28481359 |
| RB1 | 9884 | COSM176711, | endometrium | carcinoma | p.R451C | Substitution - Missense | 13:48379612-48379612, | PATHOGENIC | 0.98012 | 28481359 |
| RB1 | 9884 | COSM176711, | endometrium | carcinoma | p.R451C | Substitution - Missense | 13:48379612-48379612, | PATHOGENIC | 0.98012 | 28481359 |
| RB1 | 9884 | COSM6925712, | urinary_tract | carcinoma | p.S773F | Substitution - Missense | 13:48465104-48465104, | PATHOGENIC | 0.98007 | 28481359 |
| RB1 | 9884 | COSM947804, | lung | carcinoma | p.Q762* | Substitution - Nonsense | 13:48465070-48465070, | PATHOGENIC | 0.98007 | 28481359 |
| RB1 | 9884 | COSM3399397, | lung | carcinoma | p.Q770* | Substitution - Nonsense | 13:48465094-48465094, | PATHOGENIC | 0.98007 | 28481359 |
| RB1 | 9884 | COSM947804, | large_intestine | carcinoma | p.Q762* | Substitution - Nonsense | 13:48465070-48465070, | PATHOGENIC | 0.98007 | 27756406 |
| RB1 | 9884 | COSM6438136, | lung | carcinoma | p.L550* | Substitution - Nonsense | 13:48381397-48381397, | PATHOGENIC | 0.98003 | 27105513 |
| RB1 | 9884 | COSM6438136, | lung | carcinoma | p.L550* | Substitution - Nonsense | 13:48381397-48381397, | PATHOGENIC | 0.98003 | 27105513 |
| RB1 | 9884 | COSM49017, | breast | carcinoma | p.L607I | Substitution - Missense | 13:48456208-48456208, | PATHOGENIC | 0.97997 | 20594292 |
| RB1 | 9884 | COSM6944927, | lung | carcinoma | p.D918N | Substitution - Missense | 13:48480036-48480036, | PATHOGENIC | 0.97957 | 28481359 |
| RB1 | 9884 | COSM6944927, | skin | carcinoma | p.D918N | Substitution - Missense | 13:48480036-48480036, | PATHOGENIC | 0.97957 | 28481359 |
| RB1 | 9884 | COSM22930, | lung | carcinoma | p.Q504* | Substitution - Nonsense | 13:48381258-48381258, | PATHOGENIC | 0.97956 | 28481359 |
| RB1 | 9884 | COSM5047406, | oesophagus | carcinoma | p.K429* | Substitution - Nonsense | 13:48376987-48376987, | PATHOGENIC | 0.97929 | 24686850 |
| RB1 | 9884 | COSM6191574, | lung | carcinoma | p.H673Y | Substitution - Missense | 13:48459744-48459744, | PATHOGENIC | 0.97928 | 26645239 |
| RB1 | 9884 | COSM6849528, | breast | carcinoma | p.I532N | Substitution - Missense | 13:48381343-48381343, | PATHOGENIC | 0.97881 | 28270497 |
| RB1 | 9884 | COSM5546623, | breast | carcinoma | p.I680T | Substitution - Missense | 13:48459766-48459766, | PATHOGENIC | 0.97876 | 26527317 |
| RB1 | 9884 | COSM5546623, | thyroid | carcinoma | p.I680T | Substitution - Missense | 13:48459766-48459766, | PATHOGENIC | 0.97876 | 26971368 |
| RB1 | 9884 | COSM5546623, | breast | carcinoma | p.I680T | Substitution - Missense | 13:48459766-48459766, | PATHOGENIC | 0.97876 | 26527317 |
| RB1 | 9884 | COSM5546623, | breast | carcinoma | p.I680T | Substitution - Missense | 13:48459766-48459766, | PATHOGENIC | 0.97876 | 26527317 |
| RB1 | 9884 | COSM5546623, | thyroid | carcinoma | p.I680T | Substitution - Missense | 13:48459766-48459766, | PATHOGENIC | 0.97876 | 26971368 |
| RB1 | 9884 | COSM6958527, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.? | Unknown | 13:48459835-48459835, | PATHOGENIC | 0.97876 | 28481359 |
| RB1 | 9884 | COSM5546623, | breast | carcinoma | p.I680T | Substitution - Missense | 13:48459766-48459766, | PATHOGENIC | 0.97876 | 26527317 |
| RB1 | 9884 | COSM5546623, | breast | carcinoma | p.I680T | Substitution - Missense | 13:48459766-48459766, | PATHOGENIC | 0.97876 | 26527317 |
| RB1 | 9884 | COSM5546623, | breast | carcinoma | p.I680T | Substitution - Missense | 13:48459766-48459766, | PATHOGENIC | 0.97876 | 26527317 |
| RB1 | 9884 | COSM5546623, | thyroid | carcinoma | p.I680T | Substitution - Missense | 13:48459766-48459766, | PATHOGENIC | 0.97876 | 26971368 |
| RB1 | 9884 | COSM942, | eye | retinoblastoma | p.L688P | Substitution - Missense | 13:48459790-48459790, | PATHOGENIC | 0.97876 | 15166261 |
| RB1 | 9884 | COSM6974187, | central_nervous_system | glioma | p.L523* | Substitution - Nonsense | 13:48381316-48381316, | PATHOGENIC | 0.97869 | 28481359 |
| RB1 | 9884 | COSM1050, | pancreas | carcinoid-endocrine_tumour | p.S474N | Substitution - Missense | 13:48380084-48380084, | PATHOGENIC | 0.97761 | 27994516 |
| RB1 | 9884 | COSM1050, | eye | retinoblastoma | p.S474N | Substitution - Missense | 13:48380084-48380084, | PATHOGENIC | 0.97761 | 14625809 |
| RB1 | 9884 | COSM35888, | breast | carcinoma | p.P515L | Substitution - Missense | 13:48381292-48381292, | PATHOGENIC | 0.97732 | 19593635 |
| RB1 | 9884 | COSM6913261, | urinary_tract | carcinoma | p.? | Unknown | 13:48381246-48381246, | PATHOGENIC | 0.97697 | 28481359 |
| RB1 | 9884 | COSM6913261, | skin | carcinoma | p.? | Unknown | 13:48381246-48381246, | PATHOGENIC | 0.97697 | 28481359 |
| RB1 | 9884 | COSM6916887, | central_nervous_system | glioma | p.G818S | Substitution - Missense | 13:48465331-48465331, | PATHOGENIC | 0.9768 | 28481359 |
| RB1 | 9884 | COSM6916887, | central_nervous_system | glioma | p.G818S | Substitution - Missense | 13:48465331-48465331, | PATHOGENIC | 0.9768 | 28481359 |
| RB1 | 9884 | COSM947805, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R787Q | Substitution - Missense | 13:48465239-48465239, | PATHOGENIC | 0.97668 | 24030381 |
| RB1 | 9884 | COSM6964985, | skin | malignant_melanoma | p.L521P | Substitution - Missense | 13:48381310-48381310, | PATHOGENIC | 0.97594 | 28481359 |
| RB1 | 9884 | COSM6913288, | prostate | carcinoma | p.? | Unknown | 13:48453112-48453112, | PATHOGENIC | 0.97578 | 28481359 |
| RB1 | 9884 | COSM225014, | adrenal_gland | adrenal_cortical_adenoma | p.V654M | Substitution - Missense | 13:48456349-48456349, | PATHOGENIC | 0.97559 | 24747643 |
| RB1 | 9884 | COSM225014, | lung | carcinoma | p.V654M | Substitution - Missense | 13:48456349-48456349, | PATHOGENIC | 0.97559 | 28481359 |
| RB1 | 9884 | COSM6966830, | urinary_tract | carcinoma | p.S391* | Substitution - Nonsense | 13:48373449-48373449, | PATHOGENIC | 0.97443 | 28481359 |
| RB1 | 9884 | COSM6978748, | breast | carcinoma | p.E464* | Substitution - Nonsense | 13:48380053-48380053, | PATHOGENIC | 0.9743 | 28481359 |
| RB1 | 9884 | COSM416348, | lung | carcinoma | p.? | Unknown | 13:48453112-48453112, | PATHOGENIC | 0.97353 | 28481359 |
| RB1 | 9884 | COSM6944300, | large_intestine | carcinoma | p.G802R | Substitution - Missense | 13:48465283-48465283, | PATHOGENIC | 0.97313 | 28481359 |
| RB1 | 9884 | COSM6959022, | lung | carcinoma | p.V754L | Substitution - Missense | 13:48465046-48465046, | PATHOGENIC | 0.9731 | 28481359 |
| RB1 | 9884 | COSM6923208, | urinary_tract | carcinoma | p.S391* | Substitution - Nonsense | 13:48373449-48373449, | PATHOGENIC | 0.97289 | 28481359 |
| RB1 | 9884 | COSM6981531, | lung | carcinoma | p.Y454* | Substitution - Nonsense | 13:48379623-48379623, | PATHOGENIC | 0.97254 | 28481359 |
| RB1 | 9884 | COSM5013846, | liver | carcinoma | p.? | Unknown | 13:48380243-48380243, | PATHOGENIC | 0.97205 | 28481359 |
| RB1 | 9884 | COSM6953906, | breast | carcinoma | p.? | Unknown | 13:48367605-48367605, | PATHOGENIC | 0.97161 | 28481359 |
| RB1 | 9884 | COSM6953906, | breast | carcinoma | p.? | Unknown | 13:48367605-48367605, | PATHOGENIC | 0.97161 | 28481359 |
| RB1 | 9884 | COSM6842417, | skin | carcinoma | p.E364* | Substitution - Nonsense | 13:48368567-48368567, | PATHOGENIC | 0.97072 | 28984303 |
| RB1 | 9884 | COSM6910280, | urinary_tract | carcinoma | p.H784Y | Substitution - Missense | 13:48465229-48465229, | PATHOGENIC | 0.9706 | 28481359 |
| RB1 | 9884 | COSM6964126, | skin | malignant_melanoma | p.? | Unknown | 13:48373404-48373404, | PATHOGENIC | 0.97051 | 28481359 |
| RB1 | 9884 | COSM416350, | lung | carcinoma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.97023 | 28481359 |
| RB1 | 9884 | COSM6995455, | ovary | germ_cell_tumour | p.M904I | Substitution - Missense | 13:48477403-48477403, | PATHOGENIC | 0.96989 | 28954785 |
| RB1 | 9884 | COSM1651764, | urinary_tract | carcinoma | p.Y606* | Substitution - Nonsense | 13:48456207-48456207, | PATHOGENIC | 0.96952 | 28481359 |
| RB1 | 9884 | COSM1651764, | soft_tissue | liposarcoma | p.Y606* | Substitution - Nonsense | 13:48456207-48456207, | PATHOGENIC | 0.96952 | 20601955 |
| RB1 | 9884 | COSM6001062, | lung | carcinoma | p.V654L | Substitution - Missense | 13:48456349-48456349, | PATHOGENIC | 0.96936 | 28481359 |
| RB1 | 9884 | COSM6001062, | lung | carcinoma | p.V654L | Substitution - Missense | 13:48456349-48456349, | PATHOGENIC | 0.96936 | 28481359 |
| RB1 | 9884 | COSM6961672, | large_intestine | carcinoma | p.R7Q | Substitution - Missense | 13:48303932-48303932, | PATHOGENIC | 0.96928 | 28481359 |
| RB1 | 9884 | COSM6438177, | large_intestine | carcinoma | p.I703V | Substitution - Missense | 13:48463731-48463731, | PATHOGENIC | 0.96812 | 27756406 |
| RB1 | 9884 | COSM6966619, | lung | carcinoma | p.E629K | Substitution - Missense | 13:48456274-48456274, | PATHOGENIC | 0.96797 | 28481359 |
| RB1 | 9884 | COSM911, | ovary | carcinoma | p.L389* | Substitution - Nonsense | 13:48373443-48373443, | PATHOGENIC | 0.96773 | 28481359 |
| RB1 | 9884 | COSM911, | eye | retinoblastoma | p.L389* | Substitution - Nonsense | 13:48373443-48373443, | PATHOGENIC | 0.96773 | 8178820 |
| RB1 | 9884 | COSM911, | ovary | carcinoma | p.L389* | Substitution - Nonsense | 13:48373443-48373443, | PATHOGENIC | 0.96773 | 28481359 |
| RB1 | 9884 | COSM5610469, | skin | malignant_melanoma | p.L385* | Substitution - Nonsense | 13:48373431-48373431, | PATHOGENIC | 0.96773 | 26343386 |
| RB1 | 9884 | COSM6942782, | large_intestine | carcinoma | p.R656Q | Substitution - Missense | 13:48459694-48459694, | PATHOGENIC | 0.96691 | 28481359 |
| RB1 | 9884 | COSM5991501, | skin | adnexal_tumour | p.V456I | Substitution - Missense | 13:48379627-48379627, | PATHOGENIC | 0.9663 | 27311873 |
| RB1 | 9884 | COSM1559418, | central_nervous_system | glioma | p.? | Unknown | 13:48380086-48380086, | PATHOGENIC | 0.96606 | 28481359 |
| RB1 | 9884 | COSM6980729, | large_intestine | carcinoma | p.S624Y | Substitution - Missense | 13:48456260-48456260, | PATHOGENIC | 0.964 | 28481359 |
| RB1 | 9884 | COSM6915007, | prostate | carcinoma | p.D332H | Substitution - Missense | 13:48367548-48367548, | PATHOGENIC | 0.96397 | 28481359 |
| RB1 | 9884 | COSM1015, | central_nervous_system | glioma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 26919320 |
| RB1 | 9884 | COSM1015, | eye | retinoblastoma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 2601691 |
| RB1 | 9884 | COSM1015, | lung | carcinoma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 28481359 |
| RB1 | 9884 | COSM1015, | central_nervous_system | glioma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 28481359 |
| RB1 | 9884 | COSM1015, | lung | carcinoma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 28481359 |
| RB1 | 9884 | COSM1015, | central_nervous_system | glioma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 28481359 |
| RB1 | 9884 | COSM1015, | bone | osteosarcoma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 9559293 |
| RB1 | 9884 | COSM1015, | eye | retinoblastoma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 9311732 |
| RB1 | 9884 | COSM1015, | urinary_tract | carcinoma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 21822268 |
| RB1 | 9884 | COSM1015, | eye | retinoblastoma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 9311732 |
| RB1 | 9884 | COSM1015, | prostate | carcinoma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 28481359 |
| RB1 | 9884 | COSM1015, | eye | retinoblastoma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 2601691 |
| RB1 | 9884 | COSM1015, | eye | retinoblastoma | p.? | Unknown | 13:48373493-48373493, | PATHOGENIC | 0.96379 | 12955724 |
| RB1 | 9884 | COSM35483, | breast | carcinoma | p.? | Unknown | 13:48453113-48453113, | PATHOGENIC | 0.96276 | 28481359 |
| RB1 | 9884 | COSM6942539, | soft_tissue | leiomyosarcoma | p.? | Unknown | 13:48368525-48368525, | PATHOGENIC | 0.96262 | 28481359 |
| RB1 | 9884 | COSM895, | skin | malignant_melanoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 8968104 |
| RB1 | 9884 | COSM895, | prostate | carcinoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 28481359 |
| RB1 | 9884 | COSM895, | pancreas | carcinoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 28481359 |
| RB1 | 9884 | COSM895, | central_nervous_system | primitive_neuroectodermal_tumour-medulloblastoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 28481359 |
| RB1 | 9884 | COSM895, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 28481359 |
| RB1 | 9884 | COSM895, | skin | malignant_melanoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 8968104 |
| RB1 | 9884 | COSM895, | eye | retinoblastoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 9311732 |
| RB1 | 9884 | COSM895, | eye | retinoblastoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 8346255 |
| RB1 | 9884 | COSM895, | skin | malignant_melanoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 8968104 |
| RB1 | 9884 | COSM895, | eye | retinoblastoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 8178820 |
| RB1 | 9884 | COSM895, | skin | malignant_melanoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 23851445 |
| RB1 | 9884 | COSM895, | oesophagus | carcinoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 24686850 |
| RB1 | 9884 | COSM895, | skin | carcinoma | p.R455* | Substitution - Nonsense | 13:48379624-48379624, | PATHOGENIC | 0.96198 | 25589618 |
| RB1 | 9884 | COSM6924555, | upper_aerodigestive_tract | carcinoma | p.S648* | Substitution - Nonsense | 13:48456332-48456332, | PATHOGENIC | 0.96187 | 28481359 |
| RB1 | 9884 | COSM1666882, | urinary_tract | carcinoma | p.? | Unknown | 13:48368526-48368526, | PATHOGENIC | 0.96153 | 23887298 |
| RB1 | 9884 | COSM3724510, | eye | retinoblastoma | p.E843* | Substitution - Nonsense | 13:48476707-48476707, | PATHOGENIC | 0.96125 | 24688104 |
| RB1 | 9884 | COSM317951, | skin | carcinoma | p.E322* | Substitution - Nonsense | 13:48367518-48367518, | PATHOGENIC | 0.9612 | 28481359 |
| RB1 | 9884 | COSM6506631, | stomach | carcinoma | p.V754I | Substitution - Missense | 13:48465046-48465046, | PATHOGENIC | 0.96115 | 25656989 |
| RB1 | 9884 | COSM6939349, | large_intestine | carcinoma | p.D32N | Substitution - Missense | 13:48304006-48304006, | PATHOGENIC | 0.96082 | 28481359 |
| RB1 | 9884 | COSM6972063, | large_intestine | carcinoma | p.K462E | Substitution - Missense | 13:48379645-48379645, | PATHOGENIC | 0.96012 | 28481359 |
| RB1 | 9884 | COSM5610471, | skin | malignant_melanoma | p.N295H | Substitution - Missense | 13:48364915-48364915, | PATHOGENIC | 0.95974 | 26343386 |
| RB1 | 9884 | COSM5731131, | breast | other | p.N849I | Substitution - Missense | 13:48476726-48476726, | PATHOGENIC | 0.95961 | 26832993 |
| RB1 | 9884 | COSM861, | skin | adnexal_tumour | p.R661W | Substitution - Missense | 13:48459708-48459708, | PATHOGENIC | 0.95912 | 27311873 |
| RB1 | 9884 | COSM861, | urinary_tract | carcinoma | p.R661W | Substitution - Missense | 13:48459708-48459708, | PATHOGENIC | 0.95912 | 28548125 |
| RB1 | 9884 | COSM861, | bone | osteosarcoma | p.R661W | Substitution - Missense | 13:48459708-48459708, | PATHOGENIC | 0.95912 | 27499911 |
| RB1 | 9884 | COSM861, | urinary_tract | carcinoma | p.R661W | Substitution - Missense | 13:48459708-48459708, | PATHOGENIC | 0.95912 | 28481359 |
| RB1 | 9884 | COSM861, | urinary_tract | carcinoma | p.R661W | Substitution - Missense | 13:48459708-48459708, | PATHOGENIC | 0.95912 | 7710951 |
| RB1 | 9884 | COSM861, | urinary_tract | carcinoma | p.R661W | Substitution - Missense | 13:48459708-48459708, | PATHOGENIC | 0.95912 | 28481359 |
| RB1 | 9884 | COSM4605964, | upper_aerodigestive_tract | carcinoma | p.E275* | Substitution - Nonsense | 13:48362919-48362919, | PATHOGENIC | 0.95846 | 25056374 |
| RB1 | 9884 | COSM6911720, | lung | carcinoma | p.? | Unknown | 13:48304050-48304050, | PATHOGENIC | 0.9582 | 28481359 |
| RB1 | 9884 | COSM6920267, | breast | carcinoma | p.S888T | Substitution - Missense | 13:48476843-48476843, | PATHOGENIC | 0.95771 | 28481359 |
| RB1 | 9884 | COSM6191614, | large_intestine | carcinoma | p.K294E | Substitution - Missense | 13:48364912-48364912, | PATHOGENIC | 0.95689 | 25617745 |
| RB1 | 9884 | COSM1580298, | urinary_tract | carcinoma | p.S397* | Substitution - Nonsense | 13:48373467-48373467, | PATHOGENIC | 0.95617 | 28481359 |
| RB1 | 9884 | COSM6908737, | endometrium | carcinoma | p.R251Q | Substitution - Missense | 13:48362848-48362848, | PATHOGENIC | 0.95523 | 28481359 |
| RB1 | 9884 | COSM6506790, | cervix | carcinoma | p.D340N | Substitution - Missense | 13:48367572-48367572, | PATHOGENIC | 0.95521 | 28731050 |
| RB1 | 9884 | COSM1367201, | large_intestine | carcinoma | p.E322K | Substitution - Missense | 13:48367518-48367518, | PATHOGENIC | 0.95521 | 28481359 |
| RB1 | 9884 | COSM1367201, | endometrium | carcinoma | p.E322K | Substitution - Missense | 13:48367518-48367518, | PATHOGENIC | 0.95521 | 28481359 |
| RB1 | 9884 | COSM1477255, | breast | carcinoma | p.R334K | Substitution - Missense | 13:48367555-48367555, | PATHOGENIC | 0.95521 | 28481359 |
| RB1 | 9884 | COSM432458, | lung | carcinoma | p.E864* | Substitution - Nonsense | 13:48476770-48476770, | PATHOGENIC | 0.95472 | 28481359 |
| RB1 | 9884 | COSM6945843, | NS | carcinoma | p.M851I | Substitution - Missense | 13:48476733-48476733, | PATHOGENIC | 0.95472 | 28481359 |
| RB1 | 9884 | COSM432458, | breast | carcinoma | p.E864* | Substitution - Nonsense | 13:48476770-48476770, | PATHOGENIC | 0.95472 | 27284958 |
| RB1 | 9884 | COSM3724518, | eye | retinoblastoma | p.? | Unknown | 13:48473394-48473394, | PATHOGENIC | 0.95443 | 24688104 |
| RB1 | 9884 | COSM925, | ovary | carcinoma | p.R798W | Substitution - Missense | 13:48465271-48465271, | PATHOGENIC | 0.95335 | 9194486 |
| RB1 | 9884 | COSM5991500, | skin | adnexal_tumour | p.E352K | Substitution - Missense | 13:48368531-48368531, | PATHOGENIC | 0.9532 | 27311873 |
| RB1 | 9884 | COSM6915160, | lung | carcinoma | p.S671F | Substitution - Missense | 13:48459739-48459739, | PATHOGENIC | 0.95272 | 28481359 |
| RB1 | 9884 | COSM903, | eye | retinoblastoma | p.Y498* | Substitution - Nonsense | 13:48380237-48380237, | PATHOGENIC | 0.95233 | 9311732 |
| RB1 | 9884 | COSM1367191, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R262Q | Substitution - Missense | 13:48362881-48362881, | PATHOGENIC | 0.95226 | 24030381 |
| RB1 | 9884 | COSM5610460, | skin | malignant_melanoma | p.E275K | Substitution - Missense | 13:48362919-48362919, | PATHOGENIC | 0.95226 | 26343386 |
| RB1 | 9884 | COSM6985336, | lung | carcinoma | p.K329* | Substitution - Nonsense | 13:48367539-48367539, | PATHOGENIC | 0.95224 | 28481359 |
| RB1 | 9884 | COSM4170227, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D332G | Substitution - Missense | 13:48367549-48367549, | PATHOGENIC | 0.95204 | 25115387 |
| RB1 | 9884 | COSM6962102, | skin | malignant_melanoma | p.D286N | Substitution - Missense | 13:48362952-48362952, | PATHOGENIC | 0.9518 | 28481359 |
| RB1 | 9884 | COSM880, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.R445* | Substitution - Nonsense | 13:48379594-48379594, | PATHOGENIC | 0.951 | 28481359 |
| RB1 | 9884 | COSM880, | lung | carcinoma | p.R445* | Substitution - Nonsense | 13:48379594-48379594, | PATHOGENIC | 0.951 | 28481359 |
| RB1 | 9884 | COSM880, | eye | retinoblastoma | p.R445* | Substitution - Nonsense | 13:48379594-48379594, | PATHOGENIC | 0.951 | 9311732 |
| RB1 | 9884 | COSM880, | biliary_tract | carcinoma | p.R445* | Substitution - Nonsense | 13:48379594-48379594, | PATHOGENIC | 0.951 | 28481359 |
| RB1 | 9884 | COSM880, | eye | retinoblastoma | p.R445* | Substitution - Nonsense | 13:48379594-48379594, | PATHOGENIC | 0.951 | 12402348 |
| RB1 | 9884 | COSM5701006, | lung | carcinoma | p.S618* | Substitution - Nonsense | 13:48456242-48456242, | PATHOGENIC | 0.95025 | 28481359 |
| RB1 | 9884 | COSM5701006, | lung | carcinoma | p.S618* | Substitution - Nonsense | 13:48456242-48456242, | PATHOGENIC | 0.95025 | 26168399 |
| RB1 | 9884 | COSM6494245, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D856N | Substitution - Missense | 13:48476746-48476746, | PATHOGENIC | 0.95018 | 27534895 |
| RB1 | 9884 | COSM6966300, | soft_tissue | liposarcoma | p.D878N | Substitution - Missense | 13:48476812-48476812, | PATHOGENIC | 0.95018 | 28481359 |
| RB1 | 9884 | COSM5945309, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M851I | Substitution - Missense | 13:48476733-48476733, | PATHOGENIC | 0.95018 | 27276561 |
| RB1 | 9884 | COSM6965279, | lung | carcinoma | p.G304* | Substitution - Nonsense | 13:48364942-48364942, | PATHOGENIC | 0.94982 | 28481359 |
| RB1 | 9884 | COSM5731094, | breast | other | p.I848R | Substitution - Missense | 13:48476723-48476723, | PATHOGENIC | 0.94982 | 26832993 |
| RB1 | 9884 | COSM6972241, | NS | carcinoma | p.K240* | Substitution - Nonsense | 13:48360127-48360127, | PATHOGENIC | 0.94776 | 28481359 |
| RB1 | 9884 | COSM6191616, | large_intestine | carcinoma | p.K873T | Substitution - Missense | 13:48476798-48476798, | PATHOGENIC | 0.94725 | 25617745 |
| RB1 | 9884 | COSM219066, | pancreas | carcinoma | p.? | Unknown | 13:48362959-48362959, | PATHOGENIC | 0.94715 | 22251937 |
| RB1 | 9884 | COSM6913423, | urinary_tract | carcinoma | p.Q384* | Substitution - Nonsense | 13:48373427-48373427, | PATHOGENIC | 0.94713 | 28481359 |
| RB1 | 9884 | COSM6986482, | urinary_tract | carcinoma | p.S397L | Substitution - Missense | 13:48373467-48373467, | PATHOGENIC | 0.94686 | 28481359 |
| RB1 | 9884 | COSM3793328, | lung | carcinoma | p.S397* | Substitution - Nonsense | 13:48373467-48373467, | PATHOGENIC | 0.94664 | 28481359 |
| RB1 | 9884 | COSM3793328, | oesophagus | carcinoma | p.S397* | Substitution - Nonsense | 13:48373467-48373467, | PATHOGENIC | 0.94664 | 24686850 |
| RB1 | 9884 | COSM3793328, | oesophagus | carcinoma | p.S397* | Substitution - Nonsense | 13:48373467-48373467, | PATHOGENIC | 0.94664 | 24686850 |
| RB1 | 9884 | COSM6913560, | lung | carcinoma | p.? | Unknown | 13:48304051-48304051, | PATHOGENIC | 0.94657 | 28481359 |
| RB1 | 9884 | COSM6913560, | prostate | carcinoma | p.? | Unknown | 13:48304051-48304051, | PATHOGENIC | 0.94657 | 28481359 |
| RB1 | 9884 | COSM6438195, | large_intestine | carcinoma | p.L731F | Substitution - Missense | 13:48463815-48463815, | PATHOGENIC | 0.94647 | 27756406 |
| RB1 | 9884 | COSM916, | central_nervous_system | glioma | p.V754G | Substitution - Missense | 13:48465047-48465047, | PATHOGENIC | 0.9461 | 8674005 |
| RB1 | 9884 | COSM916, | central_nervous_system | glioma | p.V754G | Substitution - Missense | 13:48465047-48465047, | PATHOGENIC | 0.9461 | 10328544 |
| RB1 | 9884 | COSM4990379, | skin | carcinoma | p.E209* | Substitution - Nonsense | 13:48360034-48360034, | PATHOGENIC | 0.946 | 25589618 |
| RB1 | 9884 | COSM6932427, | central_nervous_system | glioma | p.Y446* | Substitution - Nonsense | 13:48379599-48379599, | PATHOGENIC | 0.94561 | 28481359 |
| RB1 | 9884 | COSM13404, | lung | carcinoma | p.Q850* | Substitution - Nonsense | 13:48476728-48476728, | PATHOGENIC | 0.94554 | 28481359 |
| RB1 | 9884 | COSM6927123, | lung | carcinoma | p.L400V | Substitution - Missense | 13:48373475-48373475, | PATHOGENIC | 0.94515 | 28481359 |
| RB1 | 9884 | COSM6935084, | urinary_tract | carcinoma | p.E30A | Substitution - Missense | 13:48304001-48304001, | PATHOGENIC | 0.94365 | 28481359 |
| RB1 | 9884 | COSM6946315, | large_intestine | carcinoma | p.F296V | Substitution - Missense | 13:48364918-48364918, | PATHOGENIC | 0.94262 | 28481359 |
| RB1 | 9884 | COSM6926699, | breast | carcinoma | p.E315* | Substitution - Nonsense | 13:48367497-48367497, | PATHOGENIC | 0.94146 | 28481359 |
| RB1 | 9884 | COSM5574308, | large_intestine | adenoma | p.R656W | Substitution - Missense | 13:48459693-48459693, | PATHOGENIC | 0.94143 | 27609830 |
| RB1 | 9884 | COSM5574308, | skin | malignant_melanoma | p.R656W | Substitution - Missense | 13:48459693-48459693, | PATHOGENIC | 0.94143 | 25452114 |
| RB1 | 9884 | COSM5574308, | large_intestine | carcinoma | p.R656W | Substitution - Missense | 13:48459693-48459693, | PATHOGENIC | 0.94143 | 28481359 |
| RB1 | 9884 | COSM5574308, | NS | malignant_melanoma | p.R656W | Substitution - Missense | 13:48459693-48459693, | PATHOGENIC | 0.94143 | 25148578 |
| RB1 | 9884 | COSM5574308, | NS | malignant_melanoma | p.R656W | Substitution - Missense | 13:48459693-48459693, | PATHOGENIC | 0.94143 | 25148578 |
| RB1 | 9884 | COSM5574308, | skin | malignant_melanoma | p.R656W | Substitution - Missense | 13:48459693-48459693, | PATHOGENIC | 0.94143 | 25452114 |
| RB1 | 9884 | COSM5574308, | stomach | carcinoma | p.R656W | Substitution - Missense | 13:48459693-48459693, | PATHOGENIC | 0.94143 | 25656989 |
| RB1 | 9884 | COSM317953, | lung | carcinoma | p.V654V | Substitution - coding silent | 13:48459689-48459689, | PATHOGENIC | 0.94101 | 22941188 |
| RB1 | 9884 | COSM1942383, | lung | carcinoma | p.G581* | Substitution - Nonsense | 13:48453038-48453038, | PATHOGENIC | 0.94084 | 28481359 |
| RB1 | 9884 | COSM214151, | skin | carcinoma | p.W195* | Substitution - Nonsense | 13:48349001-48349001, | PATHOGENIC | 0.9398 | 24406863 |
| RB1 | 9884 | COSM214151, | breast | carcinoma | p.W195* | Substitution - Nonsense | 13:48349001-48349001, | PATHOGENIC | 0.9398 | 28481359 |
| RB1 | 9884 | COSM214151, | breast | carcinoma | p.W195* | Substitution - Nonsense | 13:48349001-48349001, | PATHOGENIC | 0.9398 | 28481359 |
| RB1 | 9884 | COSM6438191, | large_intestine | carcinoma | p.H555Y | Substitution - Missense | 13:48381411-48381411, | PATHOGENIC | 0.93972 | 27756406 |
| RB1 | 9884 | COSM888, | pancreas | carcinoid-endocrine_tumour | p.R556* | Substitution - Nonsense | 13:48381414-48381414, | PATHOGENIC | 0.93892 | 28481359 |
| RB1 | 9884 | COSM888, | urinary_tract | carcinoma | p.R556* | Substitution - Nonsense | 13:48381414-48381414, | PATHOGENIC | 0.93892 | 29420467 |
| RB1 | 9884 | COSM888, | adrenal_gland | adrenal_cortical_carcinoma | p.R556* | Substitution - Nonsense | 13:48381414-48381414, | PATHOGENIC | 0.93892 | 28481359 |
| RB1 | 9884 | COSM888, | eye | retinoblastoma | p.R556* | Substitution - Nonsense | 13:48381414-48381414, | PATHOGENIC | 0.93892 | 9311732 |
| RB1 | 9884 | COSM888, | eye | retinoblastoma | p.R556* | Substitution - Nonsense | 13:48381414-48381414, | PATHOGENIC | 0.93892 | 9311732 |
| RB1 | 9884 | COSM888, | eye | retinoblastoma | p.R556* | Substitution - Nonsense | 13:48381414-48381414, | PATHOGENIC | 0.93892 | 8346255 |
| RB1 | 9884 | COSM888, | prostate | carcinoma | p.R556* | Substitution - Nonsense | 13:48381414-48381414, | PATHOGENIC | 0.93892 | 28481359 |
| RB1 | 9884 | COSM888, | urinary_tract | carcinoma | p.R556* | Substitution - Nonsense | 13:48381414-48381414, | PATHOGENIC | 0.93892 | 28481359 |
| RB1 | 9884 | COSM888, | central_nervous_system | glioma | p.R556* | Substitution - Nonsense | 13:48381414-48381414, | PATHOGENIC | 0.93892 | 18772396 |
| RB1 | 9884 | COSM888, | urinary_tract | carcinoma | p.R556* | Substitution - Nonsense | 13:48381414-48381414, | PATHOGENIC | 0.93892 | 28481359 |
| RB1 | 9884 | COSM1562227, | oesophagus | carcinoma | p.R255Q | Substitution - Missense | 13:48362860-48362860, | PATHOGENIC | 0.93846 | 24686850 |
| RB1 | 9884 | COSM254909, | liver | carcinoma | p.? | Unknown | 13:48360016-48360016, | PATHOGENIC | 0.93843 | 28481359 |
| RB1 | 9884 | COSM254909, | urinary_tract | carcinoma | p.? | Unknown | 13:48360016-48360016, | PATHOGENIC | 0.93843 | 21822268 |
| RB1 | 9884 | COSM254909, | NS | malignant_melanoma | p.? | Unknown | 13:48360016-48360016, | PATHOGENIC | 0.93843 | 28481359 |
| RB1 | 9884 | COSM254909, | skin | malignant_melanoma | p.? | Unknown | 13:48360016-48360016, | PATHOGENIC | 0.93843 | 28481359 |
| RB1 | 9884 | COSM3724517, | eye | retinoblastoma | p.? | Unknown | 13:48364889-48364889, | PATHOGENIC | 0.93788 | 24688104 |
| RB1 | 9884 | COSM6438179, | large_intestine | carcinoma | p.H686Y | Substitution - Missense | 13:48459783-48459783, | PATHOGENIC | 0.9373 | 27756406 |
| RB1 | 9884 | COSM6438179, | large_intestine | carcinoma | p.H686Y | Substitution - Missense | 13:48459783-48459783, | PATHOGENIC | 0.9373 | 27756406 |
| RB1 | 9884 | COSM6939469, | NS | carcinoma | p.P822S | Substitution - Missense | 13:48465343-48465343, | PATHOGENIC | 0.93704 | 28481359 |
| RB1 | 9884 | COSM3399394, | soft_tissue | leiomyosarcoma | p.L335* | Substitution - Nonsense | 13:48367558-48367558, | PATHOGENIC | 0.93673 | 28481359 |
| RB1 | 9884 | COSM5700973, | lung | carcinoma | p.? | Unknown | 13:48345079-48345079, | PATHOGENIC | 0.93637 | 26168399 |
| RB1 | 9884 | COSM317958, | lung | carcinoma | p.L199* | Substitution - Nonsense | 13:48349012-48349012, | PATHOGENIC | 0.93445 | 22941188 |
| RB1 | 9884 | COSM6924319, | lung | carcinoma | p.D479E | Substitution - Missense | 13:48380180-48380180, | PATHOGENIC | 0.93442 | 28481359 |
| RB1 | 9884 | COSM6951167, | central_nervous_system | glioma | p.? | Unknown | 13:48452992-48452992, | PATHOGENIC | 0.93414 | 28481359 |
| RB1 | 9884 | COSM1367176, | large_intestine | carcinoma | p.? | Unknown | 13:48347864-48347864, | PATHOGENIC | 0.93413 | 28481359 |
| RB1 | 9884 | COSM1367176, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.? | Unknown | 13:48347864-48347864, | PATHOGENIC | 0.93413 | 28481359 |
| RB1 | 9884 | COSM938, | prostate | carcinoma | p.E323* | Substitution - Nonsense | 13:48367521-48367521, | PATHOGENIC | 0.93408 | 24823478 |
| RB1 | 9884 | COSM938, | eye | retinoblastoma | p.E323* | Substitution - Nonsense | 13:48367521-48367521, | PATHOGENIC | 0.93408 | 8346255 |
| RB1 | 9884 | COSM938, | lung | carcinoma | p.E323* | Substitution - Nonsense | 13:48367521-48367521, | PATHOGENIC | 0.93408 | 28481359 |
| RB1 | 9884 | COSM938, | large_intestine | carcinoma | p.E323* | Substitution - Nonsense | 13:48367521-48367521, | PATHOGENIC | 0.93408 | 28481359 |
| RB1 | 9884 | COSM938, | large_intestine | carcinoma | p.E323* | Substitution - Nonsense | 13:48367521-48367521, | PATHOGENIC | 0.93408 | 28481359 |
| RB1 | 9884 | COSM5030963, | central_nervous_system | glioma | p.L335* | Substitution - Nonsense | 13:48367558-48367558, | PATHOGENIC | 0.93322 | 28481359 |
| RB1 | 9884 | COSM5030963, | salivary_gland | carcinoma | p.L335* | Substitution - Nonsense | 13:48367558-48367558, | PATHOGENIC | 0.93322 | 26053092 |
| RB1 | 9884 | COSM126899, | endometrium | carcinoma | p.Q257* | Substitution - Nonsense | 13:48362865-48362865, | PATHOGENIC | 0.93209 | 28481359 |
| RB1 | 9884 | COSM126899, | breast | carcinoma | p.Q257* | Substitution - Nonsense | 13:48362865-48362865, | PATHOGENIC | 0.93209 | 28481359 |
| RB1 | 9884 | COSM1046, | pituitary | adenoma | p.R621S | Substitution - Missense | 13:48456250-48456250, | PATHOGENIC | 0.93193 | 12114739 |
| RB1 | 9884 | COSM1046, | stomach | carcinoma | p.R621S | Substitution - Missense | 13:48456250-48456250, | PATHOGENIC | 0.93193 | 26489445 |
| RB1 | 9884 | COSM1046, | breast | carcinoma | p.R621S | Substitution - Missense | 13:48456250-48456250, | PATHOGENIC | 0.93193 | 27284958 |
| RB1 | 9884 | COSM915, | skin | malignant_melanoma | p.L199* | Substitution - Nonsense | 13:48349012-48349012, | PATHOGENIC | 0.93153 | 23851445 |
| RB1 | 9884 | COSM915, | skin | malignant_melanoma | p.L199* | Substitution - Nonsense | 13:48349012-48349012, | PATHOGENIC | 0.93153 | 8968104 |
| RB1 | 9884 | COSM915, | skin | malignant_melanoma | p.L199* | Substitution - Nonsense | 13:48349012-48349012, | PATHOGENIC | 0.93153 | 8968104 |
| RB1 | 9884 | COSM915, | skin | malignant_melanoma | p.L199* | Substitution - Nonsense | 13:48349012-48349012, | PATHOGENIC | 0.93153 | 8968104 |
| RB1 | 9884 | COSM6984565, | endometrium | carcinoma | p.V291A | Substitution - Missense | 13:48364904-48364904, | PATHOGENIC | 0.93139 | 28481359 |
| RB1 | 9884 | COSM6976254, | lung | carcinoma | p.D604G | Substitution - Missense | 13:48453108-48453108, | PATHOGENIC | 0.93062 | 28481359 |
| RB1 | 9884 | COSM6438178, | large_intestine | carcinoma | p.D139V | Substitution - Missense | 13:48345115-48345115, | PATHOGENIC | 0.92959 | 27756406 |
| RB1 | 9884 | COSM6438176, | large_intestine | carcinoma | p.E587V | Substitution - Missense | 13:48453057-48453057, | PATHOGENIC | 0.92952 | 27756406 |
| RB1 | 9884 | COSM6242339, | upper_aerodigestive_tract | carcinoma | p.? | Unknown | 13:48452991-48452991, | PATHOGENIC | 0.92923 | 28481359 |
| RB1 | 9884 | COSM6951218, | lung | carcinoma | p.M546I | Substitution - Missense | 13:48381386-48381386, | PATHOGENIC | 0.92834 | 28481359 |
| RB1 | 9884 | COSM6986602, | lung | carcinoma | p.C666* | Substitution - Nonsense | 13:48459725-48459725, | PATHOGENIC | 0.928 | 28481359 |
| RB1 | 9884 | COSM6920656, | NS | carcinoma | p.A160S | Substitution - Missense | 13:48345177-48345177, | PATHOGENIC | 0.92614 | 28481359 |
| RB1 | 9884 | COSM13403, | lung | carcinoma | p.E166* | Substitution - Nonsense | 13:48345195-48345195, | PATHOGENIC | 0.92614 | 28481359 |
| RB1 | 9884 | COSM5047280, | oesophagus | carcinoma | p.R262W | Substitution - Missense | 13:48362880-48362880, | PATHOGENIC | 0.92576 | 24686850 |
| RB1 | 9884 | COSM4384823, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.G100A | Substitution - Missense | 13:48342633-48342633, | PATHOGENIC | 0.92568 | 24030381 |
| RB1 | 9884 | COSM6441198, | upper_aerodigestive_tract | carcinoma | p.? | Unknown | 13:48367493-48367493, | PATHOGENIC | 0.92565 | 28493366 |
| RB1 | 9884 | COSM3733293, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R857L | Substitution - Missense | 13:48476750-48476750, | PATHOGENIC | 0.92536 | 24682267 |
| RB1 | 9884 | COSM6438183, | large_intestine | carcinoma | p.P732S | Substitution - Missense | 13:48463818-48463818, | PATHOGENIC | 0.92306 | 27756406 |
| RB1 | 9884 | COSM4806230, | lung | carcinoma | p.Q266* | Substitution - Nonsense | 13:48362892-48362892, | PATHOGENIC | 0.92129 | 28481359 |
| RB1 | 9884 | COSM6962514, | urinary_tract | carcinoma | p.P6S | Substitution - Missense | 13:48303928-48303928, | PATHOGENIC | 0.92102 | 28481359 |
| RB1 | 9884 | COSM13118, | salivary_gland | carcinoma | p.S567* | Substitution - Nonsense | 13:48452997-48452997, | PATHOGENIC | 0.92072 | 27334835 |
| RB1 | 9884 | COSM13118, | lung | carcinoma | p.S567* | Substitution - Nonsense | 13:48452997-48452997, | PATHOGENIC | 0.92072 | 22941188 |
| RB1 | 9884 | COSM1017, | eye | retinoblastoma | p.? | Unknown | 13:48342715-48342715, | PATHOGENIC | 0.92068 | 9311732 |
| RB1 | 9884 | COSM1017, | lung | carcinoma | p.? | Unknown | 13:48342715-48342715, | PATHOGENIC | 0.92068 | 28481359 |
| RB1 | 9884 | COSM6952329, | large_intestine | carcinoma | p.D111Y | Substitution - Missense | 13:48342665-48342665, | PATHOGENIC | 0.91904 | 28481359 |
| RB1 | 9884 | COSM6932677, | endometrium | carcinoma | p.G100* | Substitution - Nonsense | 13:48342632-48342632, | PATHOGENIC | 0.91904 | 28481359 |
| RB1 | 9884 | COSM6842049, | breast | carcinoma | p.? | Unknown | 13:48347866-48347866, | PATHOGENIC | 0.91586 | 28685160 |
| RB1 | 9884 | COSM171725, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E280* | Substitution - Nonsense | 13:48362934-48362934, | PATHOGENIC | 0.91426 | 24682267 |
| RB1 | 9884 | COSM5369762, | lung | carcinoma | p.K154* | Substitution - Nonsense | 13:48345159-48345159, | PATHOGENIC | 0.91121 | 26164066 |
| RB1 | 9884 | COSM6920682, | lung | carcinoma | p.? | Unknown | 13:48367492-48367492, | PATHOGENIC | 0.91113 | 28481359 |
| RB1 | 9884 | COSM6920682, | lung | carcinoma | p.? | Unknown | 13:48367492-48367492, | PATHOGENIC | 0.91113 | 28481359 |
| RB1 | 9884 | COSM6920682, | lung | carcinoma | p.? | Unknown | 13:48367492-48367492, | PATHOGENIC | 0.91113 | 28481359 |
| RB1 | 9884 | COSM6922949, | skin | malignant_melanoma | p.K447I | Substitution - Missense | 13:48379601-48379601, | PATHOGENIC | 0.9108 | 28481359 |
| RB1 | 9884 | COSM6947381, | large_intestine | carcinoma | p.S560P | Substitution - Missense | 13:48381426-48381426, | PATHOGENIC | 0.91056 | 28481359 |
| RB1 | 9884 | COSM6913802, | thyroid | carcinoma | p.E672* | Substitution - Nonsense | 13:48459741-48459741, | PATHOGENIC | 0.90986 | 28481359 |
| RB1 | 9884 | COSM6977085, | lung | carcinoma | p.R544* | Substitution - Nonsense | 13:48381378-48381378, | PATHOGENIC | 0.90896 | 28481359 |
| RB1 | 9884 | COSM6977085, | cervix | carcinoma | p.R544* | Substitution - Nonsense | 13:48381378-48381378, | PATHOGENIC | 0.90896 | 28481359 |
| RB1 | 9884 | COSM1735721, | skin | carcinoma | p.W99* | Substitution - Nonsense | 13:48342631-48342631, | PATHOGENIC | 0.90842 | 24406863 |
| RB1 | 9884 | COSM1735722, | skin | carcinoma | p.G100R | Substitution - Missense | 13:48342632-48342632, | PATHOGENIC | 0.90842 | 24406863 |
| RB1 | 9884 | COSM5029210, | breast | carcinoma | p.W99* | Substitution - Nonsense | 13:48342630-48342630, | PATHOGENIC | 0.90842 | 22722193 |
| RB1 | 9884 | COSM1735721, | central_nervous_system | glioma | p.W99* | Substitution - Nonsense | 13:48342631-48342631, | PATHOGENIC | 0.90842 | 28481359 |
| RB1 | 9884 | COSM1731707, | skin | carcinoma | p.Q597* | Substitution - Nonsense | 13:48453086-48453086, | PATHOGENIC | 0.90811 | 24406863 |
| RB1 | 9884 | COSM5574307, | skin | malignant_melanoma | p.I227N | Substitution - Missense | 13:48360089-48360089, | PATHOGENIC | 0.90799 | 25452114 |
| RB1 | 9884 | COSM5574307, | skin | malignant_melanoma | p.I227N | Substitution - Missense | 13:48360089-48360089, | PATHOGENIC | 0.90799 | 25452114 |
| RB1 | 9884 | COSM6934533, | urinary_tract | carcinoma | p.S443* | Substitution - Nonsense | 13:48377030-48377030, | PATHOGENIC | 0.90782 | 28481359 |
| RB1 | 9884 | COSM6934533, | skin | malignant_melanoma | p.S443* | Substitution - Nonsense | 13:48377030-48377030, | PATHOGENIC | 0.90782 | 28481359 |
| RB1 | 9884 | COSM1300229, | central_nervous_system | glioma | p.S567L | Substitution - Missense | 13:48452997-48452997, | PATHOGENIC | 0.90641 | 28481359 |
| RB1 | 9884 | COSM1300229, | lung | carcinoma | p.S567L | Substitution - Missense | 13:48452997-48452997, | PATHOGENIC | 0.90641 | 28481359 |
| RB1 | 9884 | COSM5985099, | large_intestine | adenoma | p.K548N | Substitution - Missense | 13:48381392-48381392, | PATHOGENIC | 0.90345 | 27609830 |
| RB1 | 9884 | COSM6968593, | urinary_tract | carcinoma | p.E184* | Substitution - Nonsense | 13:48348966-48348966, | PATHOGENIC | 0.90228 | 28481359 |
| RB1 | 9884 | COSM864, | urinary_tract | carcinoma | p.S794I | Substitution - Missense | 13:48465260-48465260, | PATHOGENIC | 0.90215 | 7710951 |
| RB1 | 9884 | COSM3733249, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y790* | Substitution - Nonsense | 13:48465249-48465249, | PATHOGENIC | 0.90167 | 24682267 |
| RB1 | 9884 | COSM4384827, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R668H | Substitution - Missense | 13:48459730-48459730, | PATHOGENIC | 0.90161 | 24030381 |
| RB1 | 9884 | COSM13405, | breast | carcinoma | p.Q217* | Substitution - Nonsense | 13:48360058-48360058, | PATHOGENIC | 0.90061 | 28481359 |
| RB1 | 9884 | COSM13405, | lung | carcinoma | p.Q217* | Substitution - Nonsense | 13:48360058-48360058, | PATHOGENIC | 0.90061 | 22941188 |
| RB1 | 9884 | COSM13405, | lung | carcinoma | p.Q217* | Substitution - Nonsense | 13:48360058-48360058, | PATHOGENIC | 0.90061 | 18948947 |
| RB1 | 9884 | COSM13405, | urinary_tract | carcinoma | p.Q217* | Substitution - Nonsense | 13:48360058-48360058, | PATHOGENIC | 0.90061 | 28481359 |
| RB1 | 9884 | COSM13405, | lung | carcinoma | p.Q217* | Substitution - Nonsense | 13:48360058-48360058, | PATHOGENIC | 0.90061 | 28481359 |
| RB1 | 9884 | COSM13405, | pancreas | carcinoma | p.Q217* | Substitution - Nonsense | 13:48360058-48360058, | PATHOGENIC | 0.90061 | 28481359 |
| RB1 | 9884 | COSM13405, | urinary_tract | carcinoma | p.Q217* | Substitution - Nonsense | 13:48360058-48360058, | PATHOGENIC | 0.90061 | 21822268 |
| RB1 | 9884 | COSM3957234, | lung | carcinoma | p.? | Unknown | 13:48349024-48349024, | PATHOGENIC | 0.89944 | 28481359 |
| RB1 | 9884 | COSM6921063, | lung | carcinoma | p.Q35* | Substitution - Nonsense | 13:48304015-48304015, | PATHOGENIC | 0.89851 | 28481359 |
| RB1 | 9884 | COSM6914501, | central_nervous_system | glioma | p.S149* | Substitution - Nonsense | 13:48345145-48345145, | PATHOGENIC | 0.8968 | 28481359 |
| RB1 | 9884 | COSM6917081, | NS | carcinoma | p.Y655* | Substitution - Nonsense | 13:48459692-48459692, | PATHOGENIC | 0.89584 | 28481359 |
| RB1 | 9884 | COSM5752662, | prostate | carcinoma | p.S230* | Substitution - Nonsense | 13:48360098-48360098, | PATHOGENIC | 0.89481 | 28481359 |
| RB1 | 9884 | COSM6964808, | lung | carcinoma | p.K96* | Substitution - Nonsense | 13:48342620-48342620, | PATHOGENIC | 0.89256 | 28481359 |
| RB1 | 9884 | COSM6938784, | lung | carcinoma | p.K95* | Substitution - Nonsense | 13:48342617-48342617, | PATHOGENIC | 0.89256 | 28481359 |
| RB1 | 9884 | COSM6906574, | urinary_tract | carcinoma | p.R259S | Substitution - Missense | 13:48362873-48362873, | PATHOGENIC | 0.89077 | 29420467 |
| RB1 | 9884 | COSM4604774, | upper_aerodigestive_tract | carcinoma | p.K745* | Substitution - Nonsense | 13:48465019-48465019, | PATHOGENIC | 0.89042 | 25056374 |
| RB1 | 9884 | COSM5945311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V852I | Substitution - Missense | 13:48476734-48476734, | PATHOGENIC | 0.89036 | 27276561 |
| RB1 | 9884 | COSM6854767, | large_intestine | other | p.T5N | Substitution - Missense | 13:48303926-48303926, | PATHOGENIC | 0.88669 | 28524162 |
| RB1 | 9884 | COSM49018, | breast | carcinoma | p.R698W | Substitution - Missense | 13:48459819-48459819, | PATHOGENIC | 0.88489 | 20594292 |
| RB1 | 9884 | COSM1047, | eye | retinoblastoma | p.N328H | Substitution - Missense | 13:48367536-48367536, | PATHOGENIC | 0.88488 | 12187430 |
| RB1 | 9884 | COSM6982207, | lung | carcinoma | p.A626G | Substitution - Missense | 13:48456266-48456266, | PATHOGENIC | 0.88466 | 28481359 |
| RB1 | 9884 | COSM22918, | lung | carcinoma | p.S127I | Substitution - Missense | 13:48342714-48342714, | PATHOGENIC | 0.88392 | 28481359 |
| RB1 | 9884 | COSM4962402, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R621H | Substitution - Missense | 13:48456251-48456251, | PATHOGENIC | 0.88307 | 27276561 |
| RB1 | 9884 | COSM4215345, | lung | carcinoma | p.S443L | Substitution - Missense | 13:48377030-48377030, | PATHOGENIC | 0.88199 | 26168399 |
| RB1 | 9884 | COSM3469142, | central_nervous_system | glioma | p.? | Unknown | 13:48348955-48348955, | PATHOGENIC | 0.88089 | 28481359 |
| RB1 | 9884 | COSM23824, | endometrium | carcinoma | p.R787* | Substitution - Nonsense | 13:48465238-48465238, | PATHOGENIC | 0.87991 | 28481359 |
| RB1 | 9884 | COSM23824, | skin | carcinoma | p.R787* | Substitution - Nonsense | 13:48465238-48465238, | PATHOGENIC | 0.87991 | 28481359 |
| RB1 | 9884 | COSM23824, | central_nervous_system | glioma | p.R787* | Substitution - Nonsense | 13:48465238-48465238, | PATHOGENIC | 0.87991 | 28201779 |
| RB1 | 9884 | COSM23824, | large_intestine | carcinoma | p.R787* | Substitution - Nonsense | 13:48465238-48465238, | PATHOGENIC | 0.87991 | 28481359 |
| RB1 | 9884 | COSM23824, | urinary_tract | carcinoma | p.R787* | Substitution - Nonsense | 13:48465238-48465238, | PATHOGENIC | 0.87991 | 28481359 |
| RB1 | 9884 | COSM23824, | pleura | mesothelioma | p.R787* | Substitution - Nonsense | 13:48465238-48465238, | PATHOGENIC | 0.87991 | 26928227 |
| RB1 | 9884 | COSM6922333, | lung | carcinoma | p.R259S | Substitution - Missense | 13:48362873-48362873, | PATHOGENIC | 0.87958 | 28481359 |
| RB1 | 9884 | COSM862, | urinary_tract | carcinoma | p.I138S | Substitution - Missense | 13:48345112-48345112, | PATHOGENIC | 0.87849 | 7710951 |
| RB1 | 9884 | COSM13413, | liver | carcinoma | p.L158* | Substitution - Nonsense | 13:48345172-48345172, | PATHOGENIC | 0.87744 | 28481359 |
| RB1 | 9884 | COSM6191613, | large_intestine | carcinoma | p.T271S | Substitution - Missense | 13:48362907-48362907, | PATHOGENIC | 0.8771 | 25617745 |
| RB1 | 9884 | COSM6910007, | urinary_tract | carcinoma | p.S318C | Substitution - Missense | 13:48367507-48367507, | PATHOGENIC | 0.8758 | 28481359 |
| RB1 | 9884 | COSM5048072, | oesophagus | carcinoma | p.Q176* | Substitution - Nonsense | 13:48347850-48347850, | PATHOGENIC | 0.87513 | 24686850 |
| RB1 | 9884 | COSM6947886, | lung | carcinoma | p.E282* | Substitution - Nonsense | 13:48362940-48362940, | PATHOGENIC | 0.87397 | 28481359 |
| RB1 | 9884 | COSM6947379, | large_intestine | carcinoma | p.? | Unknown | 13:48307407-48307407, | PATHOGENIC | 0.87319 | 28481359 |
| RB1 | 9884 | COSM39160, | central_nervous_system | glioma | p.W75* | Substitution - Nonsense | 13:48307367-48307367, | PATHOGENIC | 0.872 | 18772396 |
| RB1 | 9884 | COSM6503564, | pancreas | carcinoid-endocrine_tumour | p.L161F | Substitution - Missense | 13:48345180-48345180, | PATHOGENIC | 0.87189 | 27994516 |
| RB1 | 9884 | COSM890, | eye | retinoblastoma | p.E137* | Substitution - Nonsense | 13:48345108-48345108, | PATHOGENIC | 0.87126 | 9311732 |
| RB1 | 9884 | COSM890, | eye | retinoblastoma | p.E137* | Substitution - Nonsense | 13:48345108-48345108, | PATHOGENIC | 0.87126 | 9311732 |
| RB1 | 9884 | COSM317960, | lung | carcinoma | p.? | Unknown | 13:48342716-48342716, | PATHOGENIC | 0.87007 | 22941188 |
| RB1 | 9884 | COSM35887, | breast | carcinoma | p.I388S | Substitution - Missense | 13:48373440-48373440, | PATHOGENIC | 0.86844 | 19593635 |
| RB1 | 9884 | COSM6494241, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48364886-48364886, | PATHOGENIC | 0.86758 | 27534895 |
| RB1 | 9884 | COSM6950876, | lung | carcinoma | p.Y756* | Substitution - Nonsense | 13:48465054-48465054, | PATHOGENIC | 0.86756 | 28481359 |
| RB1 | 9884 | COSM5369826, | lung | carcinoma | p.P595L | Substitution - Missense | 13:48453081-48453081, | PATHOGENIC | 0.8672 | 26645239 |
| RB1 | 9884 | COSM5369826, | lung | carcinoma | p.P595L | Substitution - Missense | 13:48453081-48453081, | PATHOGENIC | 0.8672 | 26164066 |
| RB1 | 9884 | COSM6955189, | large_intestine | carcinoma | p.K80* | Substitution - Nonsense | 13:48307380-48307380, | PATHOGENIC | 0.86626 | 28481359 |
| RB1 | 9884 | COSM860, | urinary_tract | carcinoma | p.L158S | Substitution - Missense | 13:48345172-48345172, | PATHOGENIC | 0.86255 | 7710951 |
| RB1 | 9884 | COSM1367152, | central_nervous_system | glioma | p.S127N | Substitution - Missense | 13:48342714-48342714, | PATHOGENIC | 0.85685 | 28481359 |
| RB1 | 9884 | COSM249559, | kidney | carcinoma | p.K745I | Substitution - Missense | 13:48465020-48465020, | PATHOGENIC | 0.85662 | 22138691 |
| RB1 | 9884 | COSM3733320, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A18T | Substitution - Missense | 13:48303964-48303964, | PATHOGENIC | 0.8565 | 24682267 |
| RB1 | 9884 | COSM284491, | large_intestine | carcinoma | p.E125* | Substitution - Nonsense | 13:48342707-48342707, | PATHOGENIC | 0.85564 | 28481359 |
| RB1 | 9884 | COSM6958006, | central_nervous_system | glioma | p.? | Unknown | 13:48342716-48342716, | PATHOGENIC | 0.85457 | 28481359 |
| RB1 | 9884 | COSM6975721, | lung | carcinoma | p.F684L | Substitution - Missense | 13:48459779-48459779, | PATHOGENIC | 0.85393 | 28481359 |
| RB1 | 9884 | COSM7325465, | biliary_tract | carcinoma | p.G581E | Substitution - Missense | 13:48453039-48453039, | PATHOGENIC | 0.85284 | 29360550 |
| RB1 | 9884 | COSM868, | lung | carcinoma | p.E748* | Substitution - Nonsense | 13:48465028-48465028, | PATHOGENIC | 0.85226 | 28481359 |
| RB1 | 9884 | COSM868, | lung | carcinoma | p.E748* | Substitution - Nonsense | 13:48465028-48465028, | PATHOGENIC | 0.85226 | 2594029 |
| RB1 | 9884 | COSM868, | lung | carcinoma | p.E748* | Substitution - Nonsense | 13:48465028-48465028, | PATHOGENIC | 0.85226 | 8263009 |
| RB1 | 9884 | COSM6851675, | breast | carcinoma | p.F117S | Substitution - Missense | 13:48342684-48342684, | PATHOGENIC | 0.85179 | 25591616 |
| RB1 | 9884 | COSM6976554, | lung | carcinoma | p.L88F | Substitution - Missense | 13:48307406-48307406, | PATHOGENIC | 0.84526 | 28481359 |
| RB1 | 9884 | COSM927, | ovary | carcinoma | p.N123D | Substitution - Missense | 13:48342701-48342701, | PATHOGENIC | 0.83859 | 9194486 |
| RB1 | 9884 | COSM877, | skin | malignant_melanoma | p.S114* | Substitution - Nonsense | 13:48342675-48342675, | PATHOGENIC | 0.83265 | 26343386 |
| RB1 | 9884 | COSM877, | eye | retinoblastoma | p.S114* | Substitution - Nonsense | 13:48342675-48342675, | PATHOGENIC | 0.83265 | 12402348 |
| RB1 | 9884 | COSM696480, | lung | carcinoma | p.L88F | Substitution - Missense | 13:48307406-48307406, | PATHOGENIC | 0.83078 | 28481359 |
| RB1 | 9884 | COSM891, | eye | retinoblastoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 15166261 |
| RB1 | 9884 | COSM891, | stomach | carcinoid-endocrine_tumour | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 28481359 |
| RB1 | 9884 | COSM891, | breast | carcinoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 28481359 |
| RB1 | 9884 | COSM891, | eye | retinoblastoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 8346255 |
| RB1 | 9884 | COSM891, | eye | retinoblastoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 9311732 |
| RB1 | 9884 | COSM891, | eye | retinoblastoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 12955724 |
| RB1 | 9884 | COSM891, | soft_tissue | leiomyosarcoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 28481359 |
| RB1 | 9884 | COSM891, | eye | retinoblastoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 9311732 |
| RB1 | 9884 | COSM891, | pancreas | carcinoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 28481359 |
| RB1 | 9884 | COSM891, | kidney | carcinoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 28481359 |
| RB1 | 9884 | COSM891, | skin | carcinoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 28481359 |
| RB1 | 9884 | COSM891, | breast | carcinoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 22722193 |
| RB1 | 9884 | COSM891, | eye | retinoblastoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 9311732 |
| RB1 | 9884 | COSM891, | eye | retinoblastoma | p.R320* | Substitution - Nonsense | 13:48367512-48367512, | PATHOGENIC | 0.83031 | 9311732 |
| RB1 | 9884 | COSM6438194, | large_intestine | carcinoma | p.H585Y | Substitution - Missense | 13:48453050-48453050, | PATHOGENIC | 0.82355 | 27756406 |
| RB1 | 9884 | COSM910, | eye | retinoblastoma | p.C489* | Substitution - Nonsense | 13:48380210-48380210, | PATHOGENIC | 0.8234 | 8178820 |
| RB1 | 9884 | COSM144722, | eye | retinoblastoma | p.? | Unknown | 13:48342597-48342597, | PATHOGENIC | 0.82335 | 22237022 |
| RB1 | 9884 | COSM878, | central_nervous_system | glioma | p.R251* | Substitution - Nonsense | 13:48362847-48362847, | PATHOGENIC | 0.81988 | 28481359 |
| RB1 | 9884 | COSM878, | eye | retinoblastoma | p.R251* | Substitution - Nonsense | 13:48362847-48362847, | PATHOGENIC | 0.81988 | 9311732 |
| RB1 | 9884 | COSM878, | lung | carcinoma | p.R251* | Substitution - Nonsense | 13:48362847-48362847, | PATHOGENIC | 0.81988 | 28481359 |
| RB1 | 9884 | COSM878, | eye | retinoblastoma | p.R251* | Substitution - Nonsense | 13:48362847-48362847, | PATHOGENIC | 0.81988 | 20627193 |
| RB1 | 9884 | COSM878, | upper_aerodigestive_tract | carcinoma | p.R251* | Substitution - Nonsense | 13:48362847-48362847, | PATHOGENIC | 0.81988 | 25056374 |
| RB1 | 9884 | COSM878, | NS | carcinoma | p.R251* | Substitution - Nonsense | 13:48362847-48362847, | PATHOGENIC | 0.81988 | 28481359 |
| RB1 | 9884 | COSM878, | skin | carcinoma | p.R251* | Substitution - Nonsense | 13:48362847-48362847, | PATHOGENIC | 0.81988 | 28481359 |
| RB1 | 9884 | COSM878, | NS | carcinoma | p.R251* | Substitution - Nonsense | 13:48362847-48362847, | PATHOGENIC | 0.81988 | 28481359 |
| RB1 | 9884 | COSM878, | breast | carcinoma | p.R251* | Substitution - Nonsense | 13:48362847-48362847, | PATHOGENIC | 0.81988 | 28481359 |
| RB1 | 9884 | COSM878, | urinary_tract | carcinoma | p.R251* | Substitution - Nonsense | 13:48362847-48362847, | PATHOGENIC | 0.81988 | 28481359 |
| RB1 | 9884 | COSM878, | eye | retinoblastoma | p.R251* | Substitution - Nonsense | 13:48362847-48362847, | PATHOGENIC | 0.81988 | 12402348 |
| RB1 | 9884 | COSM878, | urinary_tract | carcinoma | p.R251* | Substitution - Nonsense | 13:48362847-48362847, | PATHOGENIC | 0.81988 | 28481359 |
| RB1 | 9884 | COSM936, | upper_aerodigestive_tract | carcinoma | p.Q395* | Substitution - Nonsense | 13:48373460-48373460, | PATHOGENIC | 0.81891 | 28581676 |
| RB1 | 9884 | COSM936, | urinary_tract | carcinoma | p.Q395* | Substitution - Nonsense | 13:48373460-48373460, | PATHOGENIC | 0.81891 | 28481359 |
| RB1 | 9884 | COSM936, | lung | carcinoma | p.Q395* | Substitution - Nonsense | 13:48373460-48373460, | PATHOGENIC | 0.81891 | 28481359 |
| RB1 | 9884 | COSM936, | eye | retinoblastoma | p.Q395* | Substitution - Nonsense | 13:48373460-48373460, | PATHOGENIC | 0.81891 | 8346255 |
| RB1 | 9884 | COSM936, | urinary_tract | carcinoma | p.Q395* | Substitution - Nonsense | 13:48373460-48373460, | PATHOGENIC | 0.81891 | 28481359 |
| RB1 | 9884 | COSM6962312, | lung | carcinoma | p.? | Unknown | 13:48342598-48342598, | PATHOGENIC | 0.81805 | 28481359 |
| RB1 | 9884 | COSM4990377, | NS | malignant_melanoma | p.E137D | Substitution - Missense | 13:48345110-48345110, | PATHOGENIC | 0.81383 | 25148578 |
| RB1 | 9884 | COSM4990377, | NS | malignant_melanoma | p.E137D | Substitution - Missense | 13:48345110-48345110, | PATHOGENIC | 0.81383 | 25148578 |
| RB1 | 9884 | COSM4990377, | skin | carcinoma | p.E137D | Substitution - Missense | 13:48345110-48345110, | PATHOGENIC | 0.81383 | 25589618 |
| RB1 | 9884 | COSM4990377, | NS | malignant_melanoma | p.E137D | Substitution - Missense | 13:48345110-48345110, | PATHOGENIC | 0.81383 | 25148578 |
| RB1 | 9884 | COSM4990377, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.E137D | Substitution - Missense | 13:48345110-48345110, | PATHOGENIC | 0.81383 | 27534895 |
| RB1 | 9884 | COSM6929570, | lung | carcinoma | p.T625A | Substitution - Missense | 13:48456262-48456262, | PATHOGENIC | 0.81365 | 28481359 |
| RB1 | 9884 | COSM49001, | lung | carcinoma | p.? | Unknown | 13:48307408-48307408, | PATHOGENIC | 0.81304 | 18948947 |
| RB1 | 9884 | COSM13140, | urinary_tract | carcinoma | p.S576* | Substitution - Nonsense | 13:48453024-48453024, | PATHOGENIC | 0.81279 | 28481359 |
| RB1 | 9884 | COSM13140, | breast | carcinoma | p.S576* | Substitution - Nonsense | 13:48453024-48453024, | PATHOGENIC | 0.81279 | 28270497 |
| RB1 | 9884 | COSM3936344, | soft_tissue | perivascular_epithelioid_cell_tumour_(PEComa) | p.? | Unknown | 13:48349024-48349024, | PATHOGENIC | 0.81262 | 28481359 |
| RB1 | 9884 | COSM3936344, | soft_tissue | leiomyosarcoma | p.? | Unknown | 13:48349024-48349024, | PATHOGENIC | 0.81262 | 28481359 |
| RB1 | 9884 | COSM3399392, | skin | carcinoma | p.C221* | Substitution - Nonsense | 13:48360072-48360072, | PATHOGENIC | 0.81222 | 28481359 |
| RB1 | 9884 | COSM6923294, | urinary_tract | carcinoma | p.S402Y | Substitution - Missense | 13:48373482-48373482, | PATHOGENIC | 0.81148 | 28481359 |
| RB1 | 9884 | COSM887, | thyroid | carcinoma | p.R552* | Substitution - Nonsense | 13:48381402-48381402, | PATHOGENIC | 0.80955 | 28351340 |
| RB1 | 9884 | COSM887, | central_nervous_system | glioma | p.R552* | Substitution - Nonsense | 13:48381402-48381402, | PATHOGENIC | 0.80955 | 28481359 |
| RB1 | 9884 | COSM887, | lung | carcinoma | p.R552* | Substitution - Nonsense | 13:48381402-48381402, | PATHOGENIC | 0.80955 | 28481359 |
| RB1 | 9884 | COSM887, | eye | retinoblastoma | p.R552* | Substitution - Nonsense | 13:48381402-48381402, | PATHOGENIC | 0.80955 | 8346255 |
| RB1 | 9884 | COSM887, | eye | retinoblastoma | p.R552* | Substitution - Nonsense | 13:48381402-48381402, | PATHOGENIC | 0.80955 | 9311732 |
| RB1 | 9884 | COSM887, | large_intestine | carcinoma | p.R552* | Substitution - Nonsense | 13:48381402-48381402, | PATHOGENIC | 0.80955 | 27756406 |
| RB1 | 9884 | COSM887, | eye | retinoblastoma | p.R552* | Substitution - Nonsense | 13:48381402-48381402, | PATHOGENIC | 0.80955 | 9311732 |
| RB1 | 9884 | COSM887, | large_intestine | carcinoma | p.R552* | Substitution - Nonsense | 13:48381402-48381402, | PATHOGENIC | 0.80955 | 28481359 |
| RB1 | 9884 | COSM887, | stomach | carcinoma | p.R552* | Substitution - Nonsense | 13:48381402-48381402, | PATHOGENIC | 0.80955 | 28481359 |
| RB1 | 9884 | COSM6918863, | NS | carcinoma | p.I679F | Substitution - Missense | 13:48459762-48459762, | PATHOGENIC | 0.80589 | 28481359 |
| RB1 | 9884 | COSM872, | prostate | carcinoma | p.S187T | Substitution - Missense | 13:48348975-48348975, | PATHOGENIC | 0.80128 | 7501543 |
| RB1 | 9884 | COSM13142, | urinary_tract | carcinoma | p.Q344* | Substitution - Nonsense | 13:48367584-48367584, | PATHOGENIC | 0.79593 | 21822268 |
| RB1 | 9884 | COSM13142, | urinary_tract | carcinoma | p.Q344* | Substitution - Nonsense | 13:48367584-48367584, | PATHOGENIC | 0.79593 | 28481359 |
| RB1 | 9884 | COSM5991502, | skin | adnexal_tumour | p.S318F | Substitution - Missense | 13:48367507-48367507, | PATHOGENIC | 0.79388 | 27311873 |
| RB1 | 9884 | COSM5029212, | breast | carcinoma | p.Q850Q | Substitution - coding silent | 13:48476730-48476730, | PATHOGENIC | 0.79013 | 22722193 |
| RB1 | 9884 | COSM6986122, | breast | carcinoma | p.F299L | Substitution - Missense | 13:48364929-48364929, | PATHOGENIC | 0.78642 | 28481359 |
| RB1 | 9884 | COSM6438184, | large_intestine | carcinoma | p.L572F | Substitution - Missense | 13:48453011-48453011, | PATHOGENIC | 0.78544 | 27756406 |
| RB1 | 9884 | COSM1367296, | adrenal_gland | adrenal_cortical_adenoma | p.R698S | Substitution - Missense | 13:48459821-48459821, | PATHOGENIC | 0.78419 | 28481359 |
| RB1 | 9884 | COSM6941507, | lung | carcinoma | p.S758* | Substitution - Nonsense | 13:48465059-48465059, | PATHOGENIC | 0.78373 | 28481359 |
| RB1 | 9884 | COSM13740, | lung | carcinoma | p.? | Unknown | 13:48342598-48342598, | PATHOGENIC | 0.7827 | 28481359 |
| RB1 | 9884 | COSM905, | lung | carcinoma | p.S82* | Substitution - Nonsense | 13:48307387-48307387, | PATHOGENIC | 0.77148 | 1992444 |
| RB1 | 9884 | COSM5730807, | breast | other | p.P250S | Substitution - Missense | 13:48362844-48362844, | PATHOGENIC | 0.77055 | 26437033 |
| RB1 | 9884 | COSM859, | urinary_tract | carcinoma | p.M208V | Substitution - Missense | 13:48360031-48360031, | PATHOGENIC | 0.77031 | 7710951 |
| RB1 | 9884 | COSM327253, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.G310E | Substitution - Missense | 13:48364961-48364961, | PATHOGENIC | 0.76815 | 22675565 |
| RB1 | 9884 | COSM5730809, | breast | other | p.A264T | Substitution - Missense | 13:48362886-48362886, | PATHOGENIC | 0.7679 | 26437033 |
| RB1 | 9884 | COSM6506627, | stomach | carcinoma | p.P370S | Substitution - Missense | 13:48368585-48368585, | PATHOGENIC | 0.76077 | 25656989 |
| RB1 | 9884 | COSM5610467, | skin | malignant_melanoma | p.R857S | Substitution - Missense | 13:48476749-48476749, | PATHOGENIC | 0.76019 | 26343386 |
| RB1 | 9884 | COSM6926955, | lung | carcinoma | p.S163I | Substitution - Missense | 13:48345187-48345187, | PATHOGENIC | 0.75893 | 28481359 |
| RB1 | 9884 | COSM943, | urinary_tract | carcinoma | p.R255* | Substitution - Nonsense | 13:48362859-48362859, | PATHOGENIC | 0.75874 | 28481359 |
| RB1 | 9884 | COSM943, | pancreas | carcinoma | p.R255* | Substitution - Nonsense | 13:48362859-48362859, | PATHOGENIC | 0.75874 | 28481359 |
| RB1 | 9884 | COSM943, | upper_aerodigestive_tract | carcinoma | p.R255* | Substitution - Nonsense | 13:48362859-48362859, | PATHOGENIC | 0.75874 | 28581676 |
| RB1 | 9884 | COSM943, | breast | carcinoma | p.R255* | Substitution - Nonsense | 13:48362859-48362859, | PATHOGENIC | 0.75874 | 25850943 |
| RB1 | 9884 | COSM943, | eye | retinoblastoma | p.R255* | Substitution - Nonsense | 13:48362859-48362859, | PATHOGENIC | 0.75874 | 12955724 |
| RB1 | 9884 | COSM943, | eye | retinoblastoma | p.R255* | Substitution - Nonsense | 13:48362859-48362859, | PATHOGENIC | 0.75874 | 28481359 |
| RB1 | 9884 | COSM6919082, | lung | carcinoma | p.R73I | Substitution - Missense | 13:48307360-48307360, | PATHOGENIC | 0.75817 | 28481359 |
| RB1 | 9884 | COSM6438186, | large_intestine | carcinoma | p.S576L | Substitution - Missense | 13:48453024-48453024, | PATHOGENIC | 0.75795 | 27756406 |
| RB1 | 9884 | COSM39409, | central_nervous_system | glioma | p.? | Unknown | 13:48342598-48342598, | PATHOGENIC | 0.74816 | 18772396 |
| RB1 | 9884 | COSM5991640, | breast | carcinoma | p.? | Unknown | 13:48349025-48349025, | PATHOGENIC | 0.74769 | 25927147 |
| RB1 | 9884 | COSM48893, | lung | carcinoma | p.E79* | Substitution - Nonsense | 13:48307377-48307377, | PATHOGENIC | 0.74373 | 18948947 |
| RB1 | 9884 | COSM327252, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D421N | Substitution - Missense | 13:48376963-48376963, | PATHOGENIC | 0.74363 | 22675565 |
| RB1 | 9884 | COSM254914, | upper_aerodigestive_tract | carcinoma | p.S634* | Substitution - Nonsense | 13:48456290-48456290, | PATHOGENIC | 0.74311 | 28481359 |
| RB1 | 9884 | COSM254914, | urinary_tract | carcinoma | p.S634* | Substitution - Nonsense | 13:48456290-48456290, | PATHOGENIC | 0.74311 | 21822268 |
| RB1 | 9884 | COSM6964600, | soft_tissue | leiomyosarcoma | p.F115L | Substitution - Missense | 13:48342679-48342679, | PATHOGENIC | 0.73851 | 28481359 |
| RB1 | 9884 | COSM876, | soft_tissue | gastrointestinal_stromal_tumour | p.E54* | Substitution - Nonsense | 13:48307302-48307302, | PATHOGENIC | 0.73549 | 28481359 |
| RB1 | 9884 | COSM876, | large_intestine | carcinoma | p.E54* | Substitution - Nonsense | 13:48307302-48307302, | PATHOGENIC | 0.73549 | 28481359 |
| RB1 | 9884 | COSM876, | eye | retinoblastoma | p.E54* | Substitution - Nonsense | 13:48307302-48307302, | PATHOGENIC | 0.73549 | 12402348 |
| RB1 | 9884 | COSM4169363, | breast | other | p.K63* | Substitution - Nonsense | 13:48307329-48307329, | PATHOGENIC | 0.7163 | 26437033 |
| RB1 | 9884 | COSM6946313, | large_intestine | carcinoma | p.E54K | Substitution - Missense | 13:48307302-48307302, | PATHOGENIC | 0.71569 | 28481359 |
| RB1 | 9884 | COSM5686959, | urinary_tract | carcinoma | p.? | Unknown | 13:48307278-48307278, | PATHOGENIC | 0.71414 | 28481359 |
| RB1 | 9884 | COSM95157, | breast | carcinoma | p.E53K | Substitution - Missense | 13:48307299-48307299, | PATHOGENIC | 0.71365 | 20668451 |
| RB1 | 9884 | COSM5027768, | urinary_tract | carcinoma | p.E97* | Substitution - Nonsense | 13:48342623-48342623, | PATHOGENIC | 0.70795 | 28481359 |
| RB1 | 9884 | COSM6952590, | lung | carcinoma | p.Y424* | Substitution - Nonsense | 13:48376974-48376974, | NEUTRAL | 0.4376 | 28481359 |
| RB1 | 9884 | COSM6438190, | large_intestine | carcinoma | p.P370L | Substitution - Missense | 13:48368586-48368586, | NEUTRAL | 0.38128 | 27756406 |
| RB1 | 9884 | COSM6961167, | pancreas | carcinoma | p.P591H | Substitution - Missense | 13:48453069-48453069, | NEUTRAL | 0.32553 | 28481359 |
| RB1 | 9884 | COSM935, | eye | retinoblastoma | p.A14A | Substitution - coding silent | 13:48303954-48303954, | NEUTRAL | 0.31607 | 8346255 |
| RB1 | 9884 | COSM6005778, | skin | adnexal_tumour | p.C590* | Substitution - Nonsense | 13:48453067-48453067, | NEUTRAL | 0.30531 | 27287813 |
| RB1 | 9884 | COSM6438185, | large_intestine | carcinoma | p.L592F | Substitution - Missense | 13:48453071-48453071, | NEUTRAL | 0.25824 | 27756406 |
| RB1 | 9884 | COSM5610475, | skin | malignant_melanoma | p.T633A | Substitution - Missense | 13:48456286-48456286, | NEUTRAL | 0.20832 | 26343386 |
| RB1 | 9884 | COSM4384825, | pancreas | carcinoma | p.T620M | Substitution - Missense | 13:48456248-48456248, | NEUTRAL | 0.20171 | 28481359 |
| RB1 | 9884 | COSM4384825, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.T620M | Substitution - Missense | 13:48456248-48456248, | NEUTRAL | 0.20171 | 24030381 |
| RB1 | 9884 | COSM5610458, | skin | malignant_melanoma | p.P808P | Substitution - coding silent | 13:48465303-48465303, | NEUTRAL | 0.19575 | 26343386 |
| RB1 | 9884 | COSM879, | eye | retinoblastoma | p.R358* | Substitution - Nonsense | 13:48368549-48368549, | NEUTRAL | 0.15915 | 20627193 |
| RB1 | 9884 | COSM879, | central_nervous_system | glioma | p.R358* | Substitution - Nonsense | 13:48368549-48368549, | NEUTRAL | 0.15915 | 24695838 |
| RB1 | 9884 | COSM879, | eye | retinoblastoma | p.R358* | Substitution - Nonsense | 13:48368549-48368549, | NEUTRAL | 0.15915 | 22237022 |
| RB1 | 9884 | COSM879, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R358* | Substitution - Nonsense | 13:48368549-48368549, | NEUTRAL | 0.15915 | 25115387 |
| RB1 | 9884 | COSM879, | eye | retinoblastoma | p.R358* | Substitution - Nonsense | 13:48368549-48368549, | NEUTRAL | 0.15915 | 9311732 |
| RB1 | 9884 | COSM879, | eye | retinoblastoma | p.R358* | Substitution - Nonsense | 13:48368549-48368549, | NEUTRAL | 0.15915 | 8346255 |
| RB1 | 9884 | COSM879, | skin | adnexal_tumour | p.R358* | Substitution - Nonsense | 13:48368549-48368549, | NEUTRAL | 0.15915 | 27287813 |
| RB1 | 9884 | COSM879, | central_nervous_system | glioma | p.R358* | Substitution - Nonsense | 13:48368549-48368549, | NEUTRAL | 0.15915 | 24695838 |
| RB1 | 9884 | COSM879, | eye | retinoblastoma | p.R358* | Substitution - Nonsense | 13:48368549-48368549, | NEUTRAL | 0.15915 | 12402348 |
| RB1 | 9884 | COSM879, | soft_tissue | leiomyosarcoma | p.R358* | Substitution - Nonsense | 13:48368549-48368549, | NEUTRAL | 0.15915 | 28481359 |
| RB1 | 9884 | COSM879, | soft_tissue | leiomyosarcoma | p.R358* | Substitution - Nonsense | 13:48368549-48368549, | NEUTRAL | 0.15915 | 28481359 |
| RB1 | 9884 | COSM879, | eye | retinoblastoma | p.R358* | Substitution - Nonsense | 13:48368549-48368549, | NEUTRAL | 0.15915 | 22237022 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | soft_tissue | haemangioblastoma | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 25589003 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | soft_tissue | haemangioblastoma | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 25589003 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | soft_tissue | haemangioblastoma | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 25589003 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | soft_tissue | haemangioblastoma | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 25589003 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | soft_tissue | haemangioblastoma | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 25589003 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | soft_tissue | haemangioblastoma | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 25589003 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | soft_tissue | haemangioblastoma | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 25589003 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | soft_tissue | haemangioblastoma | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 25589003 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | soft_tissue | haemangioblastoma | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 25589003 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM147687, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 13:48477345-48477345, | NEUTRAL | 0.09575 | 27534895 |
| RB1 | 9884 | COSM6438187, | large_intestine | carcinoma | p.N367D | Substitution - Missense | 13:48368576-48368576, | NEUTRAL | 0.09344 | 27756406 |
| RB1 | 9884 | COSM6763473, | stomach | carcinoma | p.R358Q | Substitution - Missense | 13:48368550-48368550, | NEUTRAL | 0.08044 | 28481359 |
| RB1 | 9884 | COSM924, | central_nervous_system | glioma | p.F839F | Substitution - coding silent | 13:48473387-48473387, | NEUTRAL | 0.03763 | 7979217 |
| RB1 | 9884 | COSM6494239, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A15A | Substitution - coding silent | 13:48303957-48303957, | NEUTRAL | 0.02859 | 27534895 |
| RB1 | 9884 | COSM6494239, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A15A | Substitution - coding silent | 13:48303957-48303957, | NEUTRAL | 0.02859 | 27534895 |
| RB1 | 9884 | COSM1011, | lung | carcinoma | p.? | Unknown | 13:48379722-48379722, | NEUTRAL | 0.02019 | 8302602 |
| RB1 | 9884 | COSM1051, | central_nervous_system | glioma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 10328544 |
| RB1 | 9884 | COSM1018, COSM1024, COSM931, COSM933, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.?, p.Q217fs*2, p.V654fs*6 | Deletion - Frameshift, Insertion - Frameshift, Unknown | 13:48360057-48360057, | Info_not_available | Info_not_available | 11103795 |
| RB1 | 9884 | COSM1051, | eye | retinoblastoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 12187430 |
| RB1 | 9884 | COSM1032, COSM1033, | central_nervous_system | glioma | p.? | Unknown | 13:48464971-48464982, 13:48464975-48464982, | Info_not_available | Info_not_available | 12556968 |
| RB1 | 9884 | COSM904, | prostate | carcinoma | p.I703_E737del35 | Deletion - In frame | 13:48463731-48463835, | Info_not_available | Info_not_available | 1329054 |
| RB1 | 9884 | COSM1051, | cervix | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 1648218 |
| RB1 | 9884 | COSM23573, COSM23574, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 17332242 |
| RB1 | 9884 | COSM19545, | central_nervous_system | glioma | p.0 | Whole gene deletion | 13:48303913-48480071, | Info_not_available | Info_not_available | 18394558 |
| RB1 | 9884 | COSM39397, COSM39580, COSM39747, | central_nervous_system | glioma | p.G442fs*15, p.G449fs*8, p.P822fs*4 | Deletion - Frameshift | 13:48377027-48377027, 13:48379607-48379607, 13:48465344-48465344, | Info_not_available | Info_not_available | 18772396 |
| RB1 | 9884 | COSM48966, | lung | carcinoma | p.D340fs*5 | Deletion - Frameshift | 13:48367571-48367593, | Info_not_available | Info_not_available | 18948947 |
| RB1 | 9884 | COSM3736959, COSM3736960, COSM3736961, COSM3736962, COSM3736963, | breast | carcinoma | p.K715*, p.N480del, p.P21fs*?, p.R876C, p.S82del | Deletion - In frame, Frameshift, Substitution - Missense, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 19372580 |
| RB1 | 9884 | COSM18651, COSM19545, COSM19551, COSM35889, COSM35890, | breast | carcinoma | p.0, p.?, p.G203fs*9, p.T738_R775del38 | Deletion - In frame, Insertion - Frameshift, Unknown, Whole gene deletion | 13:48303913-48480071, 13:48342599-48349023, 13:48342599-48480071, 13:48464998-48465111, | Info_not_available | Info_not_available | 19593635 |
| RB1 | 9884 | COSM49147, COSM49148, | breast | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 20594292 |
| RB1 | 9884 | COSM85771, | salivary_gland | carcinoma | p.L234* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 20696054 |
| RB1 | 9884 | COSM19545, | bone | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.0 | Whole gene deletion | 13:48303913-48480071, | Info_not_available | Info_not_available | 21254299 |
| RB1 | 9884 | COSM303840, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.M148fs*9 | Insertion - Frameshift | 13:48345140-48345141, | Info_not_available | Info_not_available | 21680795 |
| RB1 | 9884 | COSM1018, COSM219814, | NS | malignant_melanoma | p.?, p.Q93* | Substitution - Nonsense, Unknown | Info_not_available | Info_not_available | Info_not_available | 21725359 |
| RB1 | 9884 | COSM869, COSM928, COSM929, | lung | carcinoma | p.L769_Q770>F*, p.P777fs*33, p.R661fs*1 | Complex - compound substitution, Deletion - Frameshift | 13:48459707-48459710, 13:48465093-48465094, 13:48465209-48465209, | Info_not_available | Info_not_available | 2176283 |
| RB1 | 9884 | COSM19545, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.0 | Whole gene deletion | 13:48303913-48480071, | Info_not_available | Info_not_available | 22072402 |
| RB1 | 9884 | COSM19545, | soft_tissue | gastrointestinal_stromal_tumour | p.0 | Whole gene deletion | 13:48303913-48480071, | Info_not_available | Info_not_available | 22167411 |
| RB1 | 9884 | COSM1051, | prostate | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 2217208 |
| RB1 | 9884 | COSM219063, COSM219064, COSM219065, | pancreas | carcinoma | p.L743fs*1, p.N269fs*1, p.N290fs*20 | Deletion - Frameshift, Insertion - Frameshift | 13:48362899-48362900, 13:48364900-48364901, 13:48465014-48465024, | Info_not_available | Info_not_available | 22251937 |
| RB1 | 9884 | COSM144253, COSM144254, | eye | retinoblastoma | p.R798fs*17, p.Y173fs*11 | Deletion - Frameshift, Insertion - Frameshift | 13:48347839-48347840, 13:48465270-48465271, | Info_not_available | Info_not_available | 22303805 |
| RB1 | 9884 | COSM210741, | lung | carcinoma | p.E280? | Unknown | Info_not_available | Info_not_available | Info_not_available | 22327622 |
| RB1 | 9884 | COSM249914, | ovary | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 22328975 |
| RB1 | 9884 | COSM249894, | breast | carcinoma | p.?fs | Deletion - Frameshift | Info_not_available | Info_not_available | Info_not_available | 22706203 |
| RB1 | 9884 | COSM19545, | bone | chondrosarcoma | p.0 | Whole gene deletion | 13:48303913-48480071, | Info_not_available | Info_not_available | 23146407 |
| RB1 | 9884 | COSM1735719, | eye | retinoblastoma | p.I679fs*1 | Insertion - Frameshift | 13:48459761-48459762, | Info_not_available | Info_not_available | 23289805 |
| RB1 | 9884 | COSM1716319, COSM1716320, COSM1716321, COSM1716322, COSM1716323, COSM19545, | eye | retinoblastoma | p.0, p.? | Unknown, Whole gene deletion | 13:48303913-48480071, 13:48381247-48381443, | Info_not_available | Info_not_available | 23441118 |
| RB1 | 9884 | COSM1238044, | skin | malignant_melanoma | p.E79K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 23444215 |
| RB1 | 9884 | COSM1666878, COSM1666879, COSM1666880, COSM1666881, COSM1666883, | urinary_tract | carcinoma | p.?, p.Q62*, p.Q685fs*11, p.S758*, p.W195* | Substitution - Nonsense, Unknown | Info_not_available | Info_not_available | Info_not_available | 23887298 |
| RB1 | 9884 | COSM1666669, COSM1666670, | breast | other | p.K740*, p.Q504* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 23895135 |
| RB1 | 9884 | COSM3734747, COSM3734748, COSM3734749, COSM3734750, COSM3734751, | urinary_tract | carcinoma | p.G617fs*36, p.Q344*, p.Q762*, p.S397*, p.Y239* | Frameshift, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 24192927 |
| RB1 | 9884 | COSM1737865, | skin | carcinoma | p.R741fs*5 | Deletion - Frameshift | Info_not_available | Info_not_available | Info_not_available | 24406863 |
| RB1 | 9884 | COSM3734770, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.419fs*? | Unknown | 13:48376957-48376979, | Info_not_available | Info_not_available | 24497536 |
| RB1 | 9884 | COSM1051, | skin | malignant_melanoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 24628946 |
| RB1 | 9884 | COSM3733437, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.S576fs*34 | Deletion - Frameshift | 13:48453023-48453026, | Info_not_available | Info_not_available | 24682267 |
| RB1 | 9884 | COSM432450, COSM5047620, COSM5048006, | oesophagus | carcinoma | p.A74fs*4, p.E97fs*13, p.S671_E672>* | Complex - deletion inframe, Insertion - Frameshift | 13:48307352-48307353, 13:48342616-48342617, 13:48459739-48459741, | Info_not_available | Info_not_available | 24686850 |
| RB1 | 9884 | COSM3724511, COSM3724512, COSM3724513, COSM3724514, COSM3724515, COSM3724516, | eye | retinoblastoma | p.?, p.D584fs*2, p.E747fs*3, p.L832fs*5, p.Q384fs*11, p.T58fs*52 | Deletion - Frameshift, Insertion - Frameshift, Unknown | 13:48307313-48307314, 13:48373426-48373427, 13:48380083-48380084, 13:48453046-48453047, 13:48465026-48465027, 13:48473366-48473367, | Info_not_available | Info_not_available | 24688104 |
| RB1 | 9884 | COSM4387489, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.0 | Whole gene deletion | Info_not_available | Info_not_available | Info_not_available | 24997557 |
| RB1 | 9884 | COSM19545, COSM4169702, | adrenal_gland | adrenal_cortical_carcinoma | p.0, p.S414fs*10 | Frameshift, Whole gene deletion | 13:48303913-48480071, | Info_not_available | Info_not_available | 25078331 |
| RB1 | 9884 | COSM6006460, COSM6006461, | NS | malignant_melanoma | p.C706fs*14, p.R358* | Deletion - Frameshift, Substitution - Nonsense | 13:48368548-48368549, 13:48463741-48463742, | Info_not_available | Info_not_available | 25148578 |
| RB1 | 9884 | COSM4989866, COSM4989867, COSM4989868, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.?, p.Q436K | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 25207766 |
| RB1 | 9884 | COSM4603673, COSM4603674, COSM4603675, COSM4603676, COSM4603677, | pancreas | carcinoma | p.?, p.A74fs*4, p.H483fs*12, p.I244fs*6, p.R251* | Frameshift, Substitution - Nonsense, Unknown | Info_not_available | Info_not_available | Info_not_available | 25266736 |
| RB1 | 9884 | COSM5945668, | stomach | carcinoid-endocrine_tumour | p.R358* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 25342539 |
| RB1 | 9884 | COSM4603673, | central_nervous_system | glioma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 25529192 |
| RB1 | 9884 | COSM4984819, | lung | carcinoma | p.Y321* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 25567908 |
| RB1 | 9884 | COSM4990381, | skin | carcinoma | p.M484fs*8 | Deletion - Frameshift | 13:48380191-48380192, | Info_not_available | Info_not_available | 25589618 |
| RB1 | 9884 | COSM5575591, COSM5575598, | ovary | carcinoma | p.C666fs*1, p.L135fs*5 | Deletion - Frameshift, Insertion - Frameshift | 13:48345100-48345101, 13:48459717-48459718, | Info_not_available | Info_not_available | 25846551 |
| RB1 | 9884 | COSM5024932, | breast | carcinoma | p.E837fs*12 | Deletion - Frameshift | 13:48473380-48473380, | Info_not_available | Info_not_available | 25850943 |
| RB1 | 9884 | COSM5023016, | thyroid | carcinoma | p.N290fs*11 | Deletion - Frameshift | 13:48364901-48364901, | Info_not_available | Info_not_available | 25862857 |
| RB1 | 9884 | COSM5731075, | NS | malignant_melanoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 25886620 |
| RB1 | 9884 | COSM19545, | urinary_tract | carcinoma | p.0 | Whole gene deletion | 13:48303913-48480071, | Info_not_available | Info_not_available | 25891343 |
| RB1 | 9884 | COSM5991639, | breast | carcinoma | p.D156fs*19 | Frameshift | Info_not_available | Info_not_available | Info_not_available | 25927147 |
| RB1 | 9884 | COSM906, COSM907, | eye | retinoblastoma | p.E748fs*6, p.T841fs*8 | Deletion - Frameshift | 13:48465030-48465030, 13:48473390-48473390, | Info_not_available | Info_not_available | 2594029 |
| RB1 | 9884 | COSM4603673, COSM7002273, | NS | malignant_melanoma | p.?, p.R455* | Substitution - Nonsense, Unknown | Info_not_available | Info_not_available | Info_not_available | 25956405 |
| RB1 | 9884 | COSM6057032, | lung | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 25971939 |
| RB1 | 9884 | COSM5701004, COSM5702489, | lung | carcinoma | p.D145fs*8, p.V144S | Deletion - Frameshift, Substitution - Missense | 13:48345129-48345130, 13:48345130-48345130, | Info_not_available | Info_not_available | 26168399 |
| RB1 | 9884 | COSM4603673, COSM6023951, COSM6024014, COSM6024015, COSM6024016, COSM6024017, COSM6024018, COSM6024019, COSM6024020, | NS | carcinoma | p.?, p.G437fs*20, p.H129fs*3, p.I124fs*6, p.P231fs*9, p.V754fs*1, p.V754fs*11, p.V87fs*24, p.W99* | Frameshift, Substitution - Nonsense, Unknown | Info_not_available | Info_not_available | Info_not_available | 26182302 |
| RB1 | 9884 | COSM5751885, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E209fs*3 | Insertion - Frameshift | 13:48360034-48360035, | Info_not_available | Info_not_available | 26206799 |
| RB1 | 9884 | COSM5351741, | lung | carcinoma | p.E458* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 26400668 |
| RB1 | 9884 | COSM5676772, COSM5731027, | breast | other | p.E629fs*23, p.S318fs*13 | Deletion - Frameshift | 13:48367502-48367505, 13:48456273-48456274, | Info_not_available | Info_not_available | 26437033 |
| RB1 | 9884 | COSM249914, | prostate | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 26444865 |
| RB1 | 9884 | COSM4387489, | soft_tissue | liposarcoma | p.0 | Whole gene deletion | Info_not_available | Info_not_available | Info_not_available | 26647907 |
| RB1 | 9884 | COSM5731092, COSM5731096, COSM5731128, COSM5731157, COSM5731162, | breast | other | p.D156fs*19, p.D697fs*23, p.G310fs*22, p.P250fs*20, p.P609fs*43 | Deletion - Frameshift | 13:48345166-48345166, 13:48362844-48362845, 13:48364960-48364960, 13:48456209-48456210, 13:48459812-48459813, | Info_not_available | Info_not_available | 26832993 |
| RB1 | 9884 | COSM4387489, | kidney | carcinoma | p.0 | Whole gene deletion | Info_not_available | Info_not_available | Info_not_available | 26895810 |
| RB1 | 9884 | COSM6506607, | breast | carcinoma | p.S758P | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27034166 |
| RB1 | 9884 | COSM6438116, | lung | carcinoma | p.P777fs*33 | Deletion - Frameshift | 13:48465205-48465205, | Info_not_available | Info_not_available | 27105513 |
| RB1 | 9884 | COSM5885271, | thyroid | carcinoma | p.S463fs*? | Frameshift | Info_not_available | Info_not_available | Info_not_available | 27245685 |
| RB1 | 9884 | COSM5885127, COSM5885128, | biliary_tract | carcinoma | p.R579*, p.S576L | Substitution - Missense, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 27267833 |
| RB1 | 9884 | COSM6904140, | breast | carcinoma | p.E97fs*5 | Deletion - Frameshift | 13:48342623-48342650, | Info_not_available | Info_not_available | 27284958 |
| RB1 | 9884 | COSM249914, COSM5967131, COSM5967132, COSM5967133, | salivary_gland | carcinoma | p.?, p.K615fs*36, p.L665fs*9, p.S618fs*5 | Deletion - Frameshift, Unknown | 13:48456233-48456237, 13:48456241-48456241, 13:48459721-48459787, | Info_not_available | Info_not_available | 27334835 |
| RB1 | 9884 | COSM4603673, | cervix | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 27499905 |
| RB1 | 9884 | COSM6022478, | lung | carcinoma | p.Q575* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 27528220 |
| RB1 | 9884 | COSM6438181, COSM6438182, COSM6438188, COSM6438189, | large_intestine | carcinoma | p.N133fs*3, p.N593fs*5, p.P370fs*10, p.P595fs*16 | Deletion - Frameshift | 13:48345096-48345096, 13:48368585-48368585, 13:48453073-48453077, 13:48453080-48453080, | Info_not_available | Info_not_available | 27756406 |
| RB1 | 9884 | COSM6024088, | central_nervous_system | glioma | p.R798fs*17 | Frameshift | Info_not_available | Info_not_available | Info_not_available | 28042970 |
| RB1 | 9884 | COSM4387489, | central_nervous_system | glioma | p.0 | Whole gene deletion | Info_not_available | Info_not_available | Info_not_available | 28201779 |
| RB1 | 9884 | COSM6849727, | breast | carcinoma | p.E323fs*9 | Deletion - Frameshift | 13:48367521-48367521, | Info_not_available | Info_not_available | 28270497 |
| RB1 | 9884 | COSM1051, | kidney | Wilms_tumour | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 28326956 |
| RB1 | 9884 | COSM19545, | soft_tissue | leiomyosarcoma | p.0 | Whole gene deletion | 13:48303913-48480071, | Info_not_available | Info_not_available | 28476787 |
| RB1 | 9884 | COSM6904497, COSM6904498, | upper_aerodigestive_tract | carcinoma | p.C221*, p.K319fs*? | Frameshift, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 28493366 |
| RB1 | 9884 | COSM6834819, | ovary | carcinoma | p.S463* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 28734796 |
| RB1 | 9884 | COSM6842520, | soft_tissue | fibrosarcoma | p.D156fs*19 | Deletion - Frameshift | 13:48345165-48345165, | Info_not_available | Info_not_available | 28776571 |
| RB1 | 9884 | COSM6904656, | breast | carcinoma | p.E693fs*? | Frameshift | Info_not_available | Info_not_available | Info_not_available | 28921573 |
| RB1 | 9884 | COSM1666880, COSM3734751, | urinary_tract | carcinoma | p.Q344*, p.Q62* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 28945843 |
| RB1 | 9884 | COSM6906268, | urinary_tract | carcinoma | p.R556* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 29413684 |
| RB1 | 9884 | COSM6906340, COSM6906889, | urinary_tract | carcinoma | p.D32fs*33, p.M148fs*8 | Deletion - Frameshift | 13:48304005-48304005, 13:48345140-48345141, | Info_not_available | Info_not_available | 29420467 |
| RB1 | 9884 | COSM1051, COSM4603673, COSM7002310, COSM7002324, COSM7002372, | central_nervous_system | glioma | p.?, p.R698Afs*22, p.S182Yfs*2 | Frameshift, Unknown | Info_not_available | Info_not_available | Info_not_available | 29683790 |
| RB1 | 9884 | COSM1031, COSM941, | breast | carcinoma | p.?, p.G203fs*8 | Insertion - Frameshift, Unknown | Info_not_available | Info_not_available | Info_not_available | 3388033 |
| RB1 | 9884 | COSM873, COSM874, | prostate | carcinoma | p.N258fs*6, p.S513fs*9 | Deletion - Frameshift | 13:48362869-48362869, 13:48381285-48381286, | Info_not_available | Info_not_available | 7501543 |
| RB1 | 9884 | COSM875, | kidney | carcinoma | p.K240_A242>T | Complex - deletion inframe | 13:48362815-48362820, | Info_not_available | Info_not_available | 7579728 |
| RB1 | 9884 | COSM857, COSM858, COSM863, | urinary_tract | carcinoma | p.E677fs*19, p.E693fs*3, p.K896_F897>I | Complex - deletion inframe, Deletion - Frameshift | 13:48459758-48459758, 13:48459804-48459804, 13:48477378-48477380, | Info_not_available | Info_not_available | 7710951 |
| RB1 | 9884 | COSM1022, COSM1044, COSM923, | central_nervous_system | glioma | p.?, p.?fs, p.N258fs*11 | Deletion - Frameshift, Unknown | 13:48362865-48362869, 13:48473361-48473361, 13:48473393-48473393, | Info_not_available | Info_not_available | 7979217 |
| RB1 | 9884 | COSM884, COSM885, | liver | carcinoma | p.L389fs*3, p.T77fs*34 | Deletion - Frameshift | 13:48307371-48307371, 13:48373444-48373451, | Info_not_available | Info_not_available | 8033150 |
| RB1 | 9884 | COSM904, | ovary | carcinoma | p.I703_E737del35 | Deletion - In frame | 13:48463731-48463835, | Info_not_available | Info_not_available | 8077050 |
| RB1 | 9884 | COSM1043, COSM908, COSM909, COSM912, COSM913, COSM914, | eye | retinoblastoma | p.E413fs*4, p.L647fs*5, p.N472_F473insK, p.R71fs*39, p.T502fs*22, p.Y771fs*24 | Complex - frameshift, Deletion - Frameshift, Insertion - Frameshift, Insertion - In frame | 13:48307352-48307353, 13:48376938-48376938, 13:48380079-48380080, 13:48381252-48381258, 13:48456328-48456329, 13:48465096-48465097, | Info_not_available | Info_not_available | 8178820 |
| RB1 | 9884 | COSM1051, COSM867, | bone | osteosarcoma | p.?, p.P808fs*12 | Deletion - Frameshift, Unknown | 13:48465301-48465319, | Info_not_available | Info_not_available | 8187094 |
| RB1 | 9884 | COSM930, | lung | carcinoid-endocrine_tumour | p.I831fs*8 | Deletion - Frameshift | 13:48473360-48473390, | Info_not_available | Info_not_available | 8222834 |
| RB1 | 9884 | COSM1051, COSM870, | lung | carcinoma | p.?, p.L676fs*16 | Deletion - Frameshift, Unknown | 13:48459755-48459767, | Info_not_available | Info_not_available | 8263009 |
| RB1 | 9884 | COSM1051, | lung | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 8302602 |
| RB1 | 9884 | COSM1027, COSM1028, COSM1045, COSM914, COSM934, COSM937, COSM939, | eye | retinoblastoma | p.?, p.F162fs*13, p.L134fs*1, p.L647fs*5, p.N406fs*4, p.N480fs*13 | Complex - frameshift, Deletion - Frameshift, Insertion - Frameshift, Unknown | 13:48345100-48345103, 13:48345183-48345184, 13:48345201-48345201, 13:48376918-48376939, 13:48380181-48380182, 13:48456328-48456329, 13:48473393-48473396, | Info_not_available | Info_not_available | 8346255 |
| RB1 | 9884 | COSM1023, | lung | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 8390038 |
| RB1 | 9884 | COSM858, | urinary_tract | carcinoma | p.E693fs*3 | Deletion - Frameshift | 13:48459804-48459804, | Info_not_available | Info_not_available | 8561864 |
| RB1 | 9884 | COSM1051, | central_nervous_system | glioma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 8674005 |
| RB1 | 9884 | COSM1025, | endometrium | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 8677081 |
| RB1 | 9884 | COSM1018, | eye | retinoblastoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 9140452 |
| RB1 | 9884 | COSM1020, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 9204979 |
| RB1 | 9884 | COSM917, COSM918, COSM919, COSM920, COSM921, COSM922, | lung | carcinoma | p.C712_A727del16, p.F684fs*12, p.K722fs*29, p.L832fs*1, p.M484fs*8, p.P783fs*27 | Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift | 13:48380195-48380196, 13:48459778-48459778, 13:48463757-48463804, 13:48463784-48463785, 13:48465225-48465225, 13:48473365-48473365, | Info_not_available | Info_not_available | 9476905 |
| RB1 | 9884 | COSM1035, COSM1036, COSM1037, | bone | osteosarcoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 9559293 |
| RB1 | 9884 | COSM1607122, | liver | carcinoma | p.? | Unknown | 13:48348954-48348967, | Info_not_available | Info_not_available | Info_not_available |
| RB1 | 9884 | COSM1636647, | eye | retinoblastoma | p.S634P | Substitution - Missense | 13:48456289-48456289, | Info_not_available | 0.68427 | 23715307 |
| RB1 | 9884 | COSM944, | eye | retinoblastoma | p.Y325* | Substitution - Nonsense | 13:48367529-48367529, | Info_not_available | 0.68222 | 12955724 |
| RB1 | 9884 | COSM6908607, COSM6987746, | upper_aerodigestive_tract | carcinoma | p.L64*, p.Q354fs*7 | Deletion - Frameshift, Substitution - Nonsense | 13:48307333-48307333, 13:48368537-48368538, | Info_not_available | 0.68126, Info_not_available | 28581676 |
| RB1 | 9884 | COSM1021, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 13:48342724-48342724, | Info_not_available | 0.65957 | 10803523 |
| RB1 | 9884 | COSM6005780, COSM6005785, COSM6005788, COSM6006329, | skin | adnexal_tumour | p.A635fs*6, p.D224fs*40, p.E204*, p.K574fs*1 | Deletion - Frameshift, Insertion - Frameshift, Substitution - Nonsense | 13:48360019-48360019, 13:48360080-48360080, 13:48453016-48453017, 13:48456293-48456299, | Info_not_available | 0.65765, Info_not_available | 27287813 |
| RB1 | 9884 | COSM5369780, | lung | carcinoma | p.L594F | Substitution - Missense | 13:48453077-48453077, | Info_not_available | 0.65576 | 26164066 |
| RB1 | 9884 | COSM5021112, | soft_tissue | haemangioblastoma | p.I274I | Substitution - coding silent | 13:48362918-48362918, | Info_not_available | 0.63172 | 25589003 |
| RB1 | 9884 | COSM4771412, | breast | carcinoma | p.Y321* | Substitution - Nonsense | 13:48367517-48367517, | Info_not_available | 0.61851 | 24185512 |
| RB1 | 9884 | COSM5030944, COSM5030945, COSM5030962, | salivary_gland | carcinoma | p.?, p.Y155* | Substitution - Nonsense, Unknown | 13:48345164-48345164, | Info_not_available | 0.59396, Info_not_available | 26053092 |
| RB1 | 9884 | COSM317952, COSM317957, COSM892, | lung | carcinoma | p.?, p.N186fs*6, p.R579* | Deletion - Frameshift, Substitution - Nonsense, Unknown | 13:48348971-48348971, 13:48453032-48453032, 13:48459687-48459687, | Info_not_available | 0.57447, Info_not_available | 22941188 |
| RB1 | 9884 | COSM4603936, COSM892, | upper_aerodigestive_tract | carcinoma | p.L158fs*19, p.R579* | Insertion - Frameshift, Substitution - Nonsense | 13:48345163-48345164, 13:48453032-48453032, | Info_not_available | 0.57447, Info_not_available | 25056374 |
| RB1 | 9884 | COSM6842418, COSM892, | skin | carcinoma | p.?, p.R579* | Substitution - Nonsense, Unknown | 13:48453032-48453032, 13:48453108-48453111, | Info_not_available | 0.57447, Info_not_available | 28984303 |
| RB1 | 9884 | COSM892, | eye | retinoblastoma | p.R579* | Substitution - Nonsense | 13:48453032-48453032, | Info_not_available | 0.57447 | 15166261 |
| RB1 | 9884 | COSM892, | biliary_tract | carcinoma | p.R579* | Substitution - Nonsense | 13:48453032-48453032, | Info_not_available | 0.57447 | 24997986 |
| RB1 | 9884 | COSM1038, COSM1039, COSM886, COSM892, COSM893, COSM894, COSM896, COSM897, COSM898, COSM899, COSM900, COSM901, COSM902, | eye | retinoblastoma | p.E112fs*6, p.E748fs, p.H483fs*9, p.I124fs*6, p.L76fs*1, p.M695fs*10, p.Q62*, p.Q689fs, p.R579*, p.R579fs*29, p.S576fs*34, p.Y529fs*26, p.Y606fs*47 | Deletion - Frameshift, Insertion - Frameshift, Substitution - Nonsense | 13:48307326-48307326, 13:48307369-48307369, 13:48342670-48342674, 13:48342704-48342705, 13:48380190-48380191, 13:48381333-48381334, 13:48453020-48453023, 13:48453032-48453032, 13:48453032-48453041, 13:48456205-48456206, 13:48459792-48459793, 13:48459811-48459811, | Info_not_available | 0.57158, .57447, Info_not_available | 9311732 |
| RB1 | 9884 | COSM1051, COSM881, | eye | retinoblastoma | p.?, p.I126S | Substitution - Missense, Unknown | 13:48342711-48342711, | Info_not_available | 0.55835, Info_not_available | 12402348 |
| RB1 | 9884 | COSM1477250, COSM1942249, COSM1942280, COSM1942291, COSM1942343, COSM1942347, COSM1942441, COSM19454, COSM22909, COSM25237, COSM3729848, COSM3955640, COSM432450, COSM4771412, COSM4990381, COSM5231898, COSM5547810, COSM5573885, COSM5676772, COSM5731157, COSM5731162, COSM6908922, COSM6908948, COSM6909161, COSM6909932, COSM6909944, COSM6910011, COSM6910144, COSM6910891, COSM6911104, COSM6911214, COSM6911911, COSM6912331, COSM6913797, COSM6913846, COSM6914648, COSM6914960, COSM6916141, COSM6916386, COSM6916995, COSM6917373, COSM6917575, COSM6919147, COSM6920912, COSM6920976, COSM6921270, COSM6921652, COSM6921799, COSM6923011, COSM6923290, COSM6923452, COSM6923865, COSM6924199, COSM6924529, COSM6925270, COSM6925714, COSM6925804, COSM6925864, COSM6926020, COSM6926201, COSM6926553, COSM6927281, COSM6927723, COSM6927887, COSM6928171, COSM6928307, COSM6928553, COSM6928720, COSM6929263, COSM6930621, COSM6930634, COSM6932689, COSM6932997, COSM6933181, COSM6933728, COSM6934577, COSM6935954, COSM6936156, COSM6936318, COSM6936723, COSM6936992, COSM6937176, COSM6937334, COSM6938278, COSM6938721, COSM6938797, COSM6938872, COSM6938891, COSM6938979, COSM6939055, COSM6939667, COSM6942233, COSM6942888, COSM6943892, COSM6944013, COSM6944153, COSM6944675, COSM6944690, COSM6944925, COSM6945688, COSM6945768, COSM6945974, COSM6947221, COSM6947264, COSM6947779, COSM6948814, COSM6948884, COSM6949457, COSM6949852, COSM6950650, COSM6950690, COSM6950823, COSM6950886, COSM6951147, COSM6951239, COSM6951631, COSM6951677, COSM6952811, COSM6952955, COSM6954527, COSM6955574, COSM6955685, COSM6955766, COSM6956540, COSM6956592, COSM6957961, COSM6958136, COSM6960284, COSM6960392, COSM6961236, COSM6961360, COSM6962032, COSM6962547, COSM6963021, COSM6963299, COSM6963383, COSM6965100, COSM6966805, COSM6966915, COSM6967996, COSM6968169, COSM6968286, COSM6968585, COSM6968741, COSM6969215, COSM6969559, COSM6969592, COSM6970857, COSM6971251, COSM6972181, COSM6972345, COSM6972639, COSM6973390, COSM6973394, COSM6974590, COSM6975067, COSM6977525, COSM6978149, COSM6978469, COSM6978863, COSM6979259, COSM6979867, COSM6981262, COSM6981337, COSM6981674, COSM6982066, COSM6982097, COSM6982493, COSM6982940, COSM6983087, COSM6983099, COSM6984109, COSM6984567, COSM6984693, COSM6985380, COSM6986296, COSM6986632, COSM892, COSM893, COSM923, | NS, adrenal_gland, biliary_tract, bone, breast, central_nervous_system, cervix, endometrium, eye, haematopoietic_and_lymphoid_tissue, kidney, large_intestine, liver, lung, ovary, pancreas, prostate, salivary_gland, skin, small_intestine, soft_tissue, thyroid, upper_aerodigestive_tract, urinary_tract | adnexal_tumour, adrenal_cortical_carcinoma, carcinoma, gastrointestinal_stromal_tumour, glioma, leiomyosarcoma, lymphoid_neoplasm, malignant_fibrous_histiocytoma-pleomorphic_sarcoma, malignant_melanoma, osteosarcoma, other, retinoblastoma, sarcoma | p.?, p.A11fs*20, p.A15fs*3, p.A17fs*3, p.A333fs*13, p.A525fs*7, p.A562fs*49, p.A74fs*4, p.C102fs*7, p.C438fs*19, p.C489fs*5, p.C553fs*58, p.D156fs*19, p.D346fs*4, p.D479fs*16, p.D571fs*41, p.D697fs*23, p.E125fs*11, p.E19*, p.E280_E287delEHECNIDE, p.E287fs*2, p.E466delE, p.E492fs*4, p.E539_T543delEGNLT, p.E667*, p.E693fs*3, p.E72fs*34, p.F299fs*4, p.F514*, p.F514fs*8, p.G100fs*11, p.G38F, p.G423_Y424>E*, p.G449fs*8, p.G540fs*3, p.G617fs*36, p.H281fs*2, p.H483fs*10, p.H555delH, p.I324fs*17, p.I532fs*57, p.I66fs*11, p.I723fs*28, p.I768fs*23, p.I799fs*11, p.K143fs*19, p.K412N, p.K537fs*14, p.K577fs*34, p.K616fs*7, p.K63fs*38, p.K640*, p.K844fs*5, p.K844fs*6, p.L199fs*4, p.L277fs*9, p.L317fs*1, p.L326fs*1, p.L337fs*12, p.L343fs*3, p.L385fs*1, p.L44fs*4, p.L477_D479delLND, p.L486fs*6, p.L487fs*6, p.L564fs*47, p.L60*, p.L647fs*5, p.L649fs*11, p.L670fs*7, p.L743fs*1, p.L76*, p.L769fs*41, p.L76fs*1, p.L809fs*17, p.M148fs*8, p.M386fs*11, p.M460fs*3, p.M484fs*8, p.M761fs*21, p.M825fs*1, p.N123fs*2, p.N133fs*1, p.N258fs*11, p.N328fs*1, p.N328fs*4, p.N472fs*6, p.N522fs*2, p.N593fs*11, p.N623fs*15, p.N627fs*16, p.N803fs*7, p.N854fs*1, p.N867fs*2, p.P250fs*16, p.P253fs*5, p.P28fs*37, p.P609fs*43, p.P732fs*12, p.P793S, p.Q207fs*5, p.Q383fs*3, p.Q62*, p.Q639*, p.Q93*, p.R150fs*7, p.R320fs*12, p.R418fs*9, p.R579*, p.R698fs*22, p.R73fs*36, p.R787*, p.R798fs*4, p.R7fs*24, p.R7fs*58, p.R828fs*10, p.R861fs*12, p.S163N, p.S182fs*2, p.S182fs*3, p.S194fs*7, p.S318fs*13, p.S414fs*14, p.S534_E539>K, p.S648fs*4, p.S816fs*10, p.S842fs*1, p.T140fs*6, p.T497fs*22, p.T625fs*24, p.T841fs*8, p.T9fs*56, p.V291fs*9, p.V450fs*13, p.V654fs*14, p.V654fs*4, p.V754fs*4, p.V81I, p.W563fs*7, p.W78_E79>*, p.W99fs*11, p.W99fs*5, p.Y173fs*11, p.Y239fs*25, p.Y321*, p.Y453fs*1, p.Y529fs*3, p.Y655fs*13, p.Y655fs*3, p.Y771fs*23, p.Y813fs*10 | Complex - compound substitution, Complex - deletion inframe, Complex - frameshift, Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Substitution - Missense, Substitution - Nonsense, Unknown | 13:48303925-48303926, 13:48303926-48303926, 13:48303933-48303933, 13:48303940-48303941, 13:48303945-48303976, 13:48303947-48303984, 13:48303966-48303967, 13:48303991-48303991, 13:48304024-48304025, 13:48304040-48304041, 13:48307321-48307321, 13:48307322-48307347, 13:48307326-48307326, 13:48307337-48307337, 13:48307352-48307353, 13:48307353-48307354, 13:48307356-48307366, 13:48307368-48307368, 13:48307369-48307369, 13:48307376-48307377, 13:48307383-48307383, 13:48342576-48342666, 13:48342611-48342611, 13:48342628-48342629, 13:48342629-48342645, 13:48342630-48342630, 13:48342638-48342639, 13:48342697-48342697, 13:48342707-48342707, 13:48345092-48345093, 13:48345116-48345117, 13:48345126-48345165, 13:48345142-48345143, 13:48345145-48345146, 13:48345167-48345167, 13:48345186-48345201, 13:48345187-48345187, 13:48345192-48345308, 13:48347837-48347838, 13:48348957-48348958, 13:48348997-48348997, 13:48349007-48349008, 13:48359976-48360015, 13:48360015-48360016, 13:48360016-48360016, 13:48360026-48360027, 13:48360125-48360125, 13:48360129-48360178, 13:48362696-48362825, 13:48362843-48362856, 13:48362848-48362866, 13:48362865-48362869, 13:48362926-48362926, 13:48362934-48362957, 13:48362936-48362937, 13:48362950-48362958, 13:48362955-48362955, 13:48364902-48364905, 13:48364926-48364938, 13:48367326-48367563, 13:48367502-48367505, 13:48367502-48367506, 13:48367512-48367512, 13:48367517-48367517, 13:48367522-48367546, 13:48367529-48367530, 13:48367533-48367533, 13:48367533-48367534, 13:48367549-48367558, 13:48367560-48367560, 13:48367579-48367580, 13:48367589-48367596, 13:48373423-48373423, 13:48373428-48373431, 13:48373435-48373447, 13:48376909-48376927, 13:48376938-48376938, 13:48376939-48376940, 13:48376951-48376952, 13:48376965-48377035, 13:48376970-48376974, 13:48377013-48377013, 13:48379584-48379598, 13:48379584-48379614, 13:48379605-48379606, 13:48379606-48379606, 13:48379617-48379626, 13:48379639-48379640, 13:48380053-48380055, 13:48380075-48380075, 13:48380075-48380106, 13:48380077-48380093, 13:48380171-48380180, 13:48380180-48380180, 13:48380184-48380185, 13:48380191-48380192, 13:48380198-48380199, 13:48380204-48380204, 13:48380205-48380208, 13:48380206-48380207, 13:48380225-48380249, 13:48380230-48380230, 13:48380242-48380242, 13:48381287-48381288, 13:48381289-48381290, 13:48381312-48381312, 13:48381317-48381317, 13:48381329-48381329, 13:48381339-48381405, 13:48381349-48381363, 13:48381358-48381419, 13:48381361-48381375, 13:48381366-48381366, 13:48381405-48381405, 13:48381411-48381413, 13:48381427-48381427, 13:48381434-48381439, 13:48381438-48381438, 13:48452973-48453005, 13:48453004-48453005, 13:48453025-48453025, 13:48453031-48453032, 13:48453032-48453032, 13:48453072-48453093, 13:48456209-48456210, 13:48456231-48456232, 13:48456237-48456238, 13:48456254-48456269, 13:48456261-48456276, 13:48456267-48456267, 13:48456303-48456304, 13:48456306-48456307, 13:48456324-48456325, 13:48456328-48456329, 13:48456329-48456330, 13:48456342-48456343, 13:48456343-48456343, 13:48459679-48459723, 13:48459687-48459702, 13:48459689-48459689, 13:48459689-48459690, 13:48459726-48459726, 13:48459735-48459735, 13:48459806-48459807, 13:48459812-48459813, 13:48459819-48459820, 13:48463787-48463788, 13:48463816-48463816, 13:48463816-48463846, 13:48463817-48463838, 13:48464996-48464997, 13:48464997-48464998, 13:48465011-48465011, 13:48465043-48465044, 13:48465068-48465105, 13:48465088-48465098, 13:48465089-48465089, 13:48465097-48465098, 13:48465204-48465204, 13:48465237-48465238, 13:48465241-48465242, 13:48465256-48465256, 13:48465272-48465272, 13:48465283-48465283, 13:48465305-48465305, 13:48465316-48465325, 13:48465323-48465323, 13:48465348-48465348, 13:48465357-48465358, 13:48465370-48465370, 13:48473388-48473388, 13:48476476-48476740, 13:48476704-48476705, 13:48476706-48476707, 13:48476710-48476710, 13:48476738-48476739, 13:48476758-48476758, 13:48476778-48476782, 13:48476835-48476849, | Info_not_available | 0.54614, .57158, .57447, .59537, .59579, .61851, .62559, .62893, .63765, .66824, .67177, Info_not_available | 28481359 |
| RB1 | 9884 | COSM6494235, COSM6494237, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A15T, p.A16_A18delAAA | Deletion - In frame, Substitution - Missense | 13:48303949-48303957, 13:48303955-48303955, | Info_not_available | 0.52966, Info_not_available | 27534895 |
| RB1 | 9884 | COSM1367193, COSM5586384, COSM5610456, COSM5610473, COSM892, | skin | malignant_melanoma | p.F650fs*5, p.G248G, p.G802G, p.R320L, p.R579* | Deletion - Frameshift, Substitution - Missense, Substitution - Nonsense, Substitution - coding silent | 13:48362840-48362840, 13:48367513-48367513, 13:48453032-48453032, 13:48456339-48456348, 13:48465285-48465285, | Info_not_available | 0.5244, .57447, .60393, .69704, Info_not_available | 26343386 |