| 1 | Bladder cancer | Enrichment | ATM, BRCA1, CDKN1A, TP53 | 6.24 |
| 2 | Leukemia, chronic lymphocytic | Enrichment | ATM, CCND1, TP53 | 5.85 |
| 3 | Gastric cancer | Enrichment | ATM, BRCA1, CDK4, TP53 | 5.53 |
| 4 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.79 |
| 5 | Pancreatic cancer | Enrichment | ATM, BRCA1, TP53 | 4.58 |
| 6 | Mantle cell lymphoma | Enrichment | ATM, CCND1 | 4.49 |
| 7 | Prostate cancer | Enrichment | ATM, BRCA1, TP53 | 4.38 |
| 8 | Colorectal cancer | Enrichment | ATM, BRCA1, CCND1, TP53 | 4.31 |
| 9 | Ovarian cancer | Enrichment | ATM, BRCA1, MAP3K1, TP53 | 4.05 |
| 10 | Hereditary breast carcinoma | Enrichment | ATM, BRCA1, TP53 | 3.83 |
| 11 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BRCA1, CDK4, TP53 | 3.60 |
| 12 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BRCA1, TP53 | 3.54 |
| 13 | Uterine corpus cancer | Enrichment | ATM, BRCA1 | 3.53 |
| 14 | Myeloma, multiple | Enrichment | ATM, CCND1, TP53 | 3.52 |
| 15 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1 | 3.38 |
| 16 | Rhabdomyosarcoma | Enrichment | BRCA1, TP53 | 3.20 |
| 17 | Gliosarcoma | Enrichment | ATM, TP53 | 3.20 |
| 18 | Giant cell glioblastoma | Enrichment | ATM, TP53 | 3.14 |
| 19 | Breast cancer | Enrichment | ATM, BRCA1, TP53 | 3.14 |
| 20 | Endometrial cancer | Enrichment | ATM, BRCA1 | 2.96 |
| 21 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.63 |
| 22 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.63 |
| 23 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 2.63 |
| 24 | Seckel syndrome 1 | Enrichment | ATR | 2.63 |
| 25 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.63 |
| 26 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.63 |
| 27 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 2.63 |
| 28 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.63 |
| 29 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | Enrichment | CCNF | 2.63 |
| 30 | Papilloma of choroid plexus | Enrichment | TP53 | 2.63 |
| 31 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.63 |
| 32 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.63 |
| 33 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.63 |
| 34 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.63 |
| 35 | Ataxia-telangiectasia-like disorder 2 | Enrichment | PCNA | 2.63 |
| 36 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.63 |
| 37 | Ductal carcinoma in situ | Enrichment | TP53 | 2.63 |
| 38 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.63 |
| 39 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.63 |
| 40 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.63 |
| 41 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.63 |
| 42 | Choroid plexus cancer | Enrichment | TP53 | 2.63 |
| 43 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.63 |
| 44 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.63 |
| 45 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.63 |
| 46 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.33 |
| 47 | Ebstein anomaly | Enrichment | CDK8 | 2.33 |
| 48 | Cervical cancer | Enrichment | TP53 | 2.33 |
| 49 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.33 |
| 50 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.33 |
| 51 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.33 |
| 52 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.33 |
| 53 | Al kaissi syndrome | Enrichment | CDK10 | 2.33 |
| 54 | Congenital fibrosarcoma | Enrichment | TP53 | 2.33 |
| 55 | High grade glioma | Enrichment | ATM | 2.33 |
| 56 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.33 |
| 57 | Sarcoma | Enrichment | TP53 | 2.33 |
| 58 | Cervix carcinoma | Enrichment | TP53 | 2.33 |
| 59 | Hodgkin's lymphoma | Enrichment | TP53 | 2.33 |
| 60 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.33 |
| 61 | Inflammatory breast carcinoma | Enrichment | BRCA1 | 2.33 |
| 62 | Intellectual developmental disorder with hypotonia and behavioral abnormalities | Enrichment | CDK8 | 2.33 |
| 63 | Peritoneum cancer | Enrichment | BRCA1 | 2.33 |
| 64 | Bilateral breast cancer | Enrichment | BRCA1 | 2.33 |
| 65 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.33 |
| 66 | Ataxia-telangiectasia | Enrichment | ATM | 2.15 |
| 67 | Polycythemia vera | Enrichment | ATM | 2.15 |
| 68 | Osteogenic sarcoma | Enrichment | TP53 | 2.15 |
| 69 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.15 |
| 70 | Koolen-de vries syndrome | Enrichment | ATM | 2.15 |
| 71 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 2.15 |
| 72 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.15 |
| 73 | Anaplastic astrocytoma | Enrichment | TP53 | 2.15 |
| 74 | Squamous cell carcinoma | Enrichment | TP53 | 2.15 |
| 75 | Bone osteosarcoma | Enrichment | TP53 | 2.15 |
| 76 | Well-differentiated liposarcoma | Enrichment | CDK4 | 2.15 |
| 77 | Small cell cancer of the lung | Enrichment | TP53 | 2.03 |
| 78 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 2.03 |
| 79 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1 | 2.03 |
| 80 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | CCND2 | 2.03 |
| 81 | Cholangiocarcinoma | Enrichment | BRCA1 | 2.03 |
| 82 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 2.03 |
| 83 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 2.03 |
| 84 | Oculomotor apraxia | Enrichment | ATM | 2.03 |
| 85 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.93 |
| 86 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.93 |
| 87 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1 | 1.93 |
| 88 | Lymphoma | Enrichment | TP53 | 1.93 |
| 89 | Glioblastoma | Enrichment | ATM | 1.93 |
| 90 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.93 |
| 91 | Li-fraumeni syndrome | Enrichment | TP53 | 1.85 |
| 92 | Adrenocortical carcinoma | Enrichment | TP53 | 1.85 |
| 93 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.85 |
| 94 | Breast adenocarcinoma | Enrichment | TP53 | 1.85 |
| 95 | Esophageal cancer | Enrichment | TP53 | 1.79 |
| 96 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.79 |
| 97 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.79 |
| 98 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.79 |
| 99 | Essential thrombocythemia | Enrichment | TP53 | 1.79 |
| 100 | Gallbladder cancer | Enrichment | TP53 | 1.79 |
| 101 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.79 |
| 102 | Glioma susceptibility 1 | Enrichment | TP53 | 1.73 |
| 103 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.73 |
| 104 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.68 |
| 105 | Primary hyperaldosteronism | Enrichment | TP53 | 1.68 |
| 106 | Colonic benign neoplasm | Enrichment | ATM | 1.68 |
| 107 | Lynch syndrome 1 | Enrichment | ATM | 1.63 |
| 108 | Familial colorectal cancer | Enrichment | TP53 | 1.63 |
| 109 | Immune deficiency disease | Enrichment | ATM | 1.59 |
| 110 | Myelodysplastic syndrome | Enrichment | TP53 | 1.59 |
| 111 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.59 |
| 112 | Familial colorectal cancer type x | Enrichment | ATM | 1.59 |
| 113 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.55 |
| 114 | Diaphragmatic hernia, congenital | Enrichment | CDK8 | 1.52 |
| 115 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.49 |
| 116 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.49 |
| 117 | Seckel syndrome | Enrichment | ATR | 1.49 |
| 118 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1 | 1.49 |
| 119 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.46 |
| 120 | Hydrocephalus, congenital, 1 | Enrichment | CDK8 | 1.43 |
| 121 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4 | 1.40 |
| 122 | Heart, malformation of | Enrichment | CDK8 | 1.38 |
| 123 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.36 |
| 124 | Hepatoblastoma | Enrichment | TP53 | 1.31 |
| 125 | Hepatocellular carcinoma | Enrichment | TP53 | 1.30 |
| 126 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.28 |
| 127 | Lung cancer | Enrichment | BRCA1 | 1.14 |
| 128 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 1.14 |
| 129 | Fanconi anemia, complementation group a | Enrichment | BRCA1 | 1.10 |
| 130 | Diamond-blackfan anemia | Enrichment | TP53 | 1.09 |
| 131 | Leukemia, acute myeloid | Enrichment | TP53 | 1.04 |
| 132 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CCNF | 0.89 |
| 133 | Complex neurodevelopmental disorder | Enrichment | CDK8 | 0.59 |