Gene Name HGNC ID COSMIC_MutID Primary sitePrimary histology AA-Mutation Mutation Type Genomic PositionFATHMM predictionFATHMM scoreLiterature evidence
CDKN1B1785COSM936862, breastcarcinomap.E22*Substitution - Nonsense12:12717903-12717903, PATHOGENIC0.9882928481359
CDKN1B1785COSM5945857, haematopoietic_and_lymphoid_tissuelymphoid_neoplasmp.W76*Substitution - Nonsense12:12718067-12718067, PATHOGENIC0.9819928481359
CDKN1B1785COSM5945857, small_intestinecarcinoid-endocrine_tumourp.W76*Substitution - Nonsense12:12718067-12718067, PATHOGENIC0.9819928481359
CDKN1B1785COSM6946658, large_intestinecarcinomap.P11SSubstitution - Missense12:12717870-12717870, PATHOGENIC0.9788328481359
CDKN1B1785COSM6955498, prostatecarcinomap.E39*Substitution - Nonsense12:12717954-12717954, PATHOGENIC0.9761828481359
CDKN1B1785COSM6908901, stomachcarcinomap.W60CSubstitution - Missense12:12718019-12718019, PATHOGENIC0.9752428481359
CDKN1B1785COSM6936681, small_intestinecarcinoid-endocrine_tumourp.W60CSubstitution - Missense12:12718019-12718019, PATHOGENIC0.9745528481359
CDKN1B1785COSM6962439, lungcarcinomap.A21VSubstitution - Missense12:12717901-12717901, PATHOGENIC0.9742628481359
CDKN1B1785COSM6938753, biliary_tractcarcinomap.R5LSubstitution - Missense12:12717853-12717853, PATHOGENIC0.9728528481359
CDKN1B1785COSM1247956, lungcarcinomap.W60*Substitution - Nonsense12:12718018-12718018, PATHOGENIC0.9726728481359
CDKN1B1785COSM1247956, breastcarcinomap.W60*Substitution - Nonsense12:12718018-12718018, PATHOGENIC0.9726728481359
CDKN1B1785COSM6935007, small_intestinecarcinoid-endocrine_tumourp.W76GSubstitution - Missense12:12718065-12718065, PATHOGENIC0.972528481359
CDKN1B1785COSM6927678, large_intestinecarcinomap.Y88CSubstitution - Missense12:12718102-12718102, PATHOGENIC0.9724728481359
CDKN1B1785COSM4513762, skinmalignant_melanomap.L32FSubstitution - Missense12:12717933-12717933, PATHOGENIC0.9716828481359
CDKN1B1785COSM4384675, haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmp.P69LSubstitution - Missense12:12718045-12718045, PATHOGENIC0.970924030381
CDKN1B1785COSM6986194, testisgerm_cell_tumourp.E54QSubstitution - Missense12:12717999-12717999, PATHOGENIC0.9687828481359
CDKN1B1785COSM5029099, breastcarcinomap.?Unknown12:12718824-12718824, PATHOGENIC0.9601622722193
CDKN1B1785COSM5029099, breastcarcinomap.?Unknown12:12718824-12718824, PATHOGENIC0.9601628481359
CDKN1B1785COSM5029099, urinary_tractcarcinomap.?Unknown12:12718824-12718824, PATHOGENIC0.9601628481359
CDKN1B1785COSM1727744, central_nervous_systemgliomap.?Unknown12:12718315-12718315, PATHOGENIC0.959528481359
CDKN1B1785COSM1727744, central_nervous_systemgliomap.?Unknown12:12718315-12718315, PATHOGENIC0.959528481359
CDKN1B1785COSM6980164, breastcarcinomap.?Unknown12:12718824-12718824, PATHOGENIC0.9590328481359
CDKN1B1785COSM6929581, haematopoietic_and_lymphoid_tissuelymphoid_neoplasmp.D108NSubstitution - Missense12:12718161-12718161, PATHOGENIC0.9574828481359
CDKN1B1785COSM1360001, urinary_tractcarcinomap.G72DSubstitution - Missense12:12718054-12718054, PATHOGENIC0.9507928481359
CDKN1B1785COSM1360001, haematopoietic_and_lymphoid_tissuelymphoid_neoplasmp.G72DSubstitution - Missense12:12718054-12718054, PATHOGENIC0.9507928481359
CDKN1B1785COSM1360001, urinary_tractcarcinomap.G72DSubstitution - Missense12:12718054-12718054, PATHOGENIC0.9507928481359
CDKN1B1785COSM5029208, breastcarcinomap.T198ASubstitution - Missense12:12718941-12718941, PATHOGENIC0.9437322722193
CDKN1B1785COSM6983838, salivary_glandcarcinomap.A18VSubstitution - Missense12:12717892-12717892, PATHOGENIC0.9384928481359
CDKN1B1785COSM256597, endometriumcarcinomap.E172*Substitution - Nonsense12:12718863-12718863, PATHOGENIC0.9358928481359
CDKN1B1785COSM4969597, urinary_tractcarcinomap.*199SNonstop extension12:12718945-12718945, PATHOGENIC0.9355428481359
CDKN1B1785COSM4969597, urinary_tractcarcinomap.*199SNonstop extension12:12718945-12718945, PATHOGENIC0.9355428481359
CDKN1B1785COSM4384673, haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmp.E40KSubstitution - Missense12:12717957-12717957, PATHOGENIC0.9344824030381
CDKN1B1785COSM6969805, breastcarcinomap.K165*Substitution - Nonsense12:12718842-12718842, PATHOGENIC0.9337128481359
CDKN1B1785COSM6969157, thyroidcarcinomap.E86*Substitution - Nonsense12:12718095-12718095, PATHOGENIC0.9328228481359
CDKN1B1785COSM6979920, thyroidcarcinomap.G72ASubstitution - Missense12:12718054-12718054, PATHOGENIC0.9280828481359
CDKN1B1785COSM6918057, large_intestinecarcinomap.N168KSubstitution - Missense12:12718853-12718853, PATHOGENIC0.9262528481359
CDKN1B1785COSM3688044, breastcarcinomap.E171*Substitution - Nonsense12:12718860-12718860, PATHOGENIC0.9204322722193
CDKN1B1785COSM94063, lungcarcinomap.M52ISubstitution - Missense12:12717995-12717995, PATHOGENIC0.919820668451
CDKN1B1785COSM6931015, urinary_tractcarcinomap.R50TSubstitution - Missense12:12717988-12717988, PATHOGENIC0.9155128481359
CDKN1B1785COSM5029207, breastcarcinomap.E71*Substitution - Nonsense12:12718050-12718050, PATHOGENIC0.8970322722193
CDKN1B1785COSM6933671, breastcarcinomap.D158YSubstitution - Missense12:12718311-12718311, PATHOGENIC0.8697128481359
CDKN1B1785COSM4384674, haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmp.T42ASubstitution - Missense12:12717963-12717963, PATHOGENIC0.8583224030381
CDKN1B1785COSM6960611, lungcarcinomap.S140RSubstitution - Missense12:12718257-12718257, PATHOGENIC0.848628481359
CDKN1B1785COSM6909392, lungcarcinomap.R194KSubstitution - Missense12:12718930-12718930, PATHOGENIC0.8447428481359
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM4146812, soft_tissuehaemangioblastomap.V109GSubstitution - Missense12:12718165-12718165, PATHOGENIC0.8227125589003
CDKN1B1785COSM6916333, livercarcinomap.Y89*Substitution - Nonsense12:12718106-12718106, PATHOGENIC0.8079828481359
CDKN1B1785COSM1247955, haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmp.R169KSubstitution - Missense12:12718855-12718855, PATHOGENIC0.80624030381
CDKN1B1785COSM4384676, haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmp.R90KSubstitution - Missense12:12718108-12718108, PATHOGENIC0.7927424030381
CDKN1B1785COSM6966740, NScarcinoid-endocrine_tumourp.M16TSubstitution - Missense12:12717886-12717886, PATHOGENIC0.7816828481359
CDKN1B1785COSM5029096, lungcarcinomap.T42ISubstitution - Missense12:12717964-12717964, PATHOGENIC0.7697928481359
CDKN1B1785COSM5029096, breastcarcinomap.T42ISubstitution - Missense12:12717964-12717964, PATHOGENIC0.7697922722193
CDKN1B1785COSM5421248, haematopoietic_and_lymphoid_tissuelymphoid_neoplasmp.Q57*Substitution - Nonsense12:12718008-12718008, PATHOGENIC0.7543128481359
CDKN1B1785COSM6921905, lungcarcinomap.S138*Substitution - Nonsense12:12718252-12718252, NEUTRAL0.488728481359
CDKN1B1785COSM6924536, biliary_tractcarcinomap.A116TSubstitution - Missense12:12718185-12718185, NEUTRAL0.4831128481359
CDKN1B1785COSM6924229, stomachcarcinoid-endocrine_tumourp.L118*Substitution - Nonsense12:12718192-12718192, NEUTRAL0.3010528481359
CDKN1B1785COSM6921904, lungcarcinomap.P122QSubstitution - Missense12:12718204-12718204, NEUTRAL0.2335328481359
CDKN1B1785COSM4767739, biliary_tractcarcinomap.?Unknown12:12718818-12718818, NEUTRAL0.1542424997986
CDKN1B1785COSM5751571, COSM5751738, haematopoietic_and_lymphoid_tissuelymphoid_neoplasmp.Q104fs*21, p.W60fs*65Complex - frameshift, Insertion - Frameshift12:12718019-12718019, 12:12718149-12718150, Info_not_availableInfo_not_available26206799
CDKN1B1785COSM5967270, salivary_glandcarcinomap.P26fs*99Insertion - Frameshift12:12717913-12717914, Info_not_availableInfo_not_available27334835
CDKN1B1785COSM6498638, haematopoietic_and_lymphoid_tissuelymphoid_neoplasmp.0Whole gene deletionInfo_not_availableInfo_not_availableInfo_not_available27369867
CDKN1B1785COSM5029097, COSM5029098, breastcarcinomap.K134fs*11, p.P137fs*8Deletion - Frameshift12:12718240-12718240, 12:12718249-12718249, Info_not_availableInfo_not_available22722193
CDKN1B1785COSM4990214, skincarcinomap.L130LSubstitution - coding silent12:12718229-12718229, Info_not_available0.602725589618
CDKN1B1785COSM1161891, COSM1247954, COSM1360002, COSM1605759, COSM1628450, COSM268297, COSM4671225, COSM6910615, COSM6916855, COSM6918079, COSM6927047, COSM6927135, COSM6933562, COSM6933801, COSM6939443, COSM6940600, COSM6944288, COSM6945512, COSM6945523, COSM6950010, COSM6950213, COSM6950858, COSM6951667, COSM6952049, COSM6952885, COSM6960783, COSM6962024, COSM6964281, COSM6969460, COSM6975278, COSM6977194, COSM6983541, COSM6986487, NS, breast, central_nervous_system, endometrium, haematopoietic_and_lymphoid_tissue, large_intestine, lung, pancreas, prostate, skin, small_intestine, thyroid, urinary_tractcarcinoid-endocrine_tumour, carcinoma, glioma, lymphoid_neoplasm, malignant_melanomap.?, p.A121fs*24, p.A98V, p.A98fs*27, p.D17fs*108, p.D51fs*73, p.E53fs*18, p.E80_K81>VR, p.E86fs*33, p.G97D, p.G97fs*22, p.G97fs*28, p.H129fs*8, p.H23fs*102, p.K59fs*12, p.K73fs*52, p.K96fs*29, p.N31fs*11, p.N8fs*1, p.P137fs*8, p.Q104fs*19, p.Q65fs*60, p.R15fs*27, p.R43W, p.R43fs*28, p.R93fs*32, p.S10fs*32, p.S125fs*1, p.S83fs*37, p.T170fs*>26, p.T42fs*30, p.W60_K68>*Complex - compound substitution, Complex - deletion inframe, Complex - frameshift, Deletion - Frameshift, Insertion - Frameshift, Substitution - Missense, Unknown12:12717859-12717860, 12:12717864-12717864, 12:12717882-12717882, 12:12717886-12717887, 12:12717905-12717906, 12:12717930-12717930, 12:12717962-12717963, 12:12717964-12717964, 12:12717965-12717966, 12:12717987-12717988, 12:12717995-12717995, 12:12718014-12718014, 12:12718018-12718041, 12:12718027-12718028, 12:12718051-12718052, 12:12718078-12718081, 12:12718086-12718099, 12:12718087-12718102, 12:12718095-12718100, 12:12718109-12718110, 12:12718118-12718119, 12:12718119-12718119, 12:12718124-12718125, 12:12718125-12718126, 12:12718129-12718129, 12:12718129-12718130, 12:12718132-12718132, 12:12718197-12718197, 12:12718211-12718212, 12:12718223-12718224, 12:12718248-12718248, 12:12718822-12718831, 12:12718856-12718865, Info_not_available0.52259, .68422, Info_not_available28481359
CDKN1B1785COSM4384672, COSM4384677, COSM4385664, haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmp.D17E, p.G182D, p.K96fs*29Insertion - Frameshift, Substitution - Missense12:12717890-12717890, 12:12718124-12718125, 12:12718894-12718894, Info_not_available0.51221, .69486, Info_not_available24030381