Brooke-Spiegler Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BRSS MCID: BRK001 MIFTS: 55	Brooke-Spiegler Syndrome (BRSS) Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Collapse all tables

Sources

Aliases & Classifications for Brooke-Spiegler Syndrome

MalaCards integrated aliases for Brooke-Spiegler Syndrome:

Name: Brooke-Spiegler Syndrome ⁵⁷ ¹² ⁵³ ²⁵ ⁵⁹ ⁷⁴ ³⁷ ¹⁵ ⁷²

Spiegler-Brooke Syndrome ⁵⁷ ⁵³ ²⁵ ⁷⁴ ²⁹ ¹³ ⁶ ⁴⁰

Brss ⁵⁷ ⁵³ ²⁵ ⁷⁴

Sbs ⁵⁷ ⁵³ ⁷⁴

Bss ⁵⁷ ²⁵ ⁷⁴

Ancell-Spiegler Cylindromas ⁵³ ⁷²

Spiegler-Brooke Syndrome; Sbs ⁵⁷

Carcinoma, Skin Appendage ⁴⁴

Eccrine Dermal Cylindroma ⁷²

Skin Appendage Carcinoma ¹⁷

Schilbach-Rott Syndrome ⁷²

Cyld Cutaneous Syndrome ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

brooke-spiegler syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset in early adulthood
allelic disorder to multiple familial trichoepithelioma 1 (mft1, ) and familial cylindromatosis (fc, )

HPO:

³²

brooke-spiegler syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Skin diseases Endocrine diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare skin diseases

External Ids:

Disease Ontology ¹² DOID:0050693

OMIM ⁵⁷ 605041

KEGG ³⁷ H00827

MeSH ⁴⁴ D018280

MESH via Orphanet ⁴⁵ C536611

UMLS via Orphanet ⁷³ C1857941

Orphanet ⁵⁹ ORPHA79493

MedGen ⁴² C1857941

EFO ¹⁷ EFO_1001183

UMLS ⁷² C1305968 C1834038 C1851526 more

Sources

Summaries for Brooke-Spiegler Syndrome

Genetics Home Reference : ²⁵ Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. The tumors associated with Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands. People with Brooke-Spiegler syndrome typically begin developing tumors in early adulthood. The tumors are most often found on the head and neck. They grow larger and increase in number over time. In severe cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The tumors can be disfiguring and may contribute to depression or other psychological problems. For reasons that are unclear, females with Brooke-Spiegler syndrome are often more severely affected than males.

MalaCards based summary : Brooke-Spiegler Syndrome, also known as spiegler-brooke syndrome, is related to spiradenoma and basal cell carcinoma. An important gene associated with Brooke-Spiegler Syndrome is CYLD (CYLD Lysine 63 Deubiquitinase), and among its related pathways/superpathways are RIG-I-like receptor signaling pathway and Wnt / Hedgehog / Notch. The drugs Talimogene laherparepvec and nivolumab have been mentioned in the context of this disorder. Affiliated tissues include skin, salivary gland and eye, and related phenotypes are neoplasm and milia

Disease Ontology : ¹² An autosomal dominant disease that is characterized by the development of several types of tumors from the skin, has material basis in heterozygous mutation in the CYLD gene on chromosome 16q12.

NIH Rare Diseases : ⁵³ Brooke-Spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. The tumors associated with Brooke-Spiegler syndrome are generally benign (noncancerous), but occasionally they may become malignant (cancerous). Individuals with Brooke-Spiegler syndrome are also at increased risk of developing tumors in tissues in other areas, particularly benign or malignant tumors of the salivary or parotid glands and basal cell carcinomas. Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.

OMIM : ⁵⁷ Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life (Scheinfeld et al., 2003). Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene. (605041)

KEGG : ³⁷

Brooke-Spiegler syndrome is an inherited disease characterized by multiple tumors of tissues derived from folliculo-sebaceous-apocrine unit, including cylindromas, trichoepitheliomas, and/or spiradenomas. It is an autosomal dominant condition.

UniProtKB/Swiss-Prot : ⁷⁴ Brooke-Spiegler syndrome: An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life.

Wikipedia : ⁷⁵ Multiple familial trichoepithelioma is a cutaneous condition characterized by multiple cystic and solid... more...

Sources

Related Diseases for Brooke-Spiegler Syndrome

Diseases related to Brooke-Spiegler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 235, show less)

#	Related Disease	Score	Top Affiliating Genes
1	spiradenoma	31.5	KRT14 CYLD
2	basal cell carcinoma	30.0	PTCH1 KRT8 CYLD
3	bernard-soulier syndrome	12.2
4	barber-say syndrome	12.0
5	multiple familial trichoepithelioma	12.0
6	cylindromatosis, familial	11.9
7	short bowel syndrome	11.8
8	sick building syndrome	11.7
9	basal cell carcinoma 1	11.6
10	schilbach-rott syndrome	11.6
11	camptocormism	11.6
12	neural tube defects	11.6
13	shaken baby syndrome	11.5
14	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	11.5
15	brown-sequard syndrome	11.4
16	cowden syndrome 1	11.2
17	congenital short bowel syndrome	11.2
18	trichoepithelioma, multiple familial, 1	10.6
19	adenoid cystic carcinoma	10.6
20	adenoma	10.6
21	erythrokeratoderma ''en cocardes''	10.6
22	rare genetic skin disease	10.6
23	malignant cylindroma	10.5
24	rapidly involuting congenital hemangioma	10.5
25	kala-azar 1	10.3
26	leishmaniasis	10.3
27	neurofibromatosis, type iv, of riccardi	10.3
28	pulmonary disease, chronic obstructive	10.3
29	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
30	telangiectasis	10.3
31	syringoma	10.3
32	ovarian brenner tumor	10.3
33	skin disease	10.3
34	spindle cell carcinoma	10.3
35	spindle cell sarcoma	10.3
36	pustulosis of palm and sole	10.3
37	psoriasis	10.3
38	48,xyyy	10.3
39	posttransplant acute limbic encephalitis	10.3
40	rare tumor	10.3
41	ige responsiveness, atopic	10.3
42	endophthalmitis	10.2
43	cataract	10.2
44	cerebral artery occlusion	10.2
45	schistosoma mansoni infection, susceptibility/	10.2
46	triiodothyronine receptor auxiliary protein	10.2
47	bone resorption disease	10.2
48	schistosomiasis	10.2
49	kidney disease	10.2
50	back pain	10.2
51	proteasome-associated autoinflammatory syndrome 1	10.1
52	intestinal schistosomiasis	10.1
53	degenerative disc disease	10.1
54	hypereosinophilic syndrome	10.1
55	retinal detachment	10.1
56	glaucoma-related pigment dispersion syndrome	10.1
57	major affective disorder 8	10.1
58	major affective disorder 9	10.1
59	helix syndrome	10.1
60	common cold	10.1
61	focal epilepsy	10.1
62	pulmonary tuberculosis	10.1
63	early myoclonic encephalopathy	10.1
64	bipolar disorder	10.1
65	lymphopenia	10.1
66	epilepsy with generalized tonic-clonic seizures	10.1
67	rare surgical neurologic disease	10.1
68	pulmonary hypertension	10.1
69	rhinitis	10.1
70	carotid artery occlusion	10.1
71	herpes simplex	10.1
72	visceral leishmaniasis	10.1
73	haemophilus influenzae	10.1
74	brain injury	10.1
75	overgrowth syndrome	10.1
76	osteogenic sarcoma	10.0
77	sudden infant death syndrome	10.0
78	gallbladder disease 1	10.0
79	asthma	10.0
80	allergic rhinitis	10.0
81	bile acid malabsorption, primary	10.0
82	auditory neuropathy and optic atrophy	10.0
83	cholelithiasis	10.0
84	chlamydia	10.0
85	dementia	10.0
86	diarrhea	10.0
87	typhoid fever	10.0
88	toxic shock syndrome	10.0
89	acute kidney failure	10.0
90	pancreatic ductal adenocarcinoma	10.0
91	pseudohypoaldosteronism	10.0
92	multiple chemical sensitivity	10.0
93	active peptic ulcer disease	10.0
94	cytokine deficiency	10.0
95	dysphagia	10.0
96	hypoxia	10.0
97	traumatic brain injury	10.0
98	obsolete: ehlers-danlos syndrome, fibronectinemic type	10.0
99	pik3ca-related overgrowth syndrome	10.0
100	polyploidy	10.0
101	pigmented basal cell carcinoma	10.0	PTCH1 KRT14
102	sweat gland disease	9.9	KRT14 CYLD
103	tonsil cancer	9.9	KRT14 CYLD
104	atrial standstill 1	9.8
105	bladder cancer	9.8
106	colorectal cancer	9.8
107	hepatocellular carcinoma	9.8
108	multiple sclerosis	9.8
109	esophageal cancer	9.8
110	hair whorl	9.8
111	renal cell carcinoma, nonpapillary	9.8
112	osteoporosis	9.8
113	ovarian cancer	9.8
114	polykaryocytosis inducer	9.8
115	scoliosis, isolated 1	9.8
116	varicose veins	9.8
117	cerebellar hypoplasia	9.8
118	hutterite cerebroosteonephrodysplasia syndrome	9.8
119	methane production	9.8
120	ocular motor apraxia	9.8
121	pancreatic cancer	9.8
122	peeling skin syndrome 1	9.8
123	aging	9.8
124	prostatic hyperplasia, benign	9.8
125	macular degeneration, age-related, 1	9.8
126	polydactyly	9.8
127	ventricular fibrillation, paroxysmal familial, 1	9.8
128	orthostatic intolerance	9.8
129	temtamy preaxial brachydactyly syndrome	9.8
130	anxiety	9.8
131	aplastic anemia	9.8
132	bone mineral density quantitative trait locus 8	9.8
133	leukemia, acute lymphoblastic	9.8
134	bone mineral density quantitative trait locus 15	9.8
135	graft-versus-host disease	9.8
136	pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	9.8
137	pulmonary hypertension, primary, 4	9.8
138	bardet-biedl syndrome 16	9.8
139	deficiency anemia	9.8
140	chlamydia pneumonia	9.8
141	inflammatory bowel disease	9.8
142	metabolic acidosis	9.8
143	chronic venous insufficiency	9.8
144	colitis	9.8
145	scoliosis	9.8
146	idiopathic scoliosis	9.8
147	pollen allergy	9.8
148	thrombosis	9.8
149	non-alcoholic fatty liver disease	9.8
150	venous insufficiency	9.8
151	thalassemia	9.8
152	lymphocytic leukemia	9.8
153	pleural tuberculosis	9.8
154	kuhnt-junius degeneration	9.8
155	dissociative disorder	9.8
156	prostatic hypertrophy	9.8
157	visual epilepsy	9.8
158	coronary thrombosis	9.8
159	low compliance bladder	9.8
160	nephronophthisis	9.8
161	megaesophagus	9.8
162	cholestasis	9.8
163	pleural disease	9.8
164	squamous cell carcinoma	9.8
165	bardet-biedl syndrome	9.8
166	thrombocytosis	9.8
167	benign mesothelioma	9.8
168	dermatitis	9.8
169	idiopathic interstitial pneumonia	9.8
170	prostatic adenoma	9.8
171	substance abuse	9.8
172	churg-strauss syndrome	9.8
173	complex regional pain syndrome	9.8
174	ischemia	9.8
175	mood disorder	9.8
176	purpura	9.8
177	pulmonary fibrosis	9.8
178	liver disease	9.8
179	ulnar neuropathy	9.8
180	congestive heart failure	9.8
181	bronchitis	9.8
182	fibromyalgia	9.8
183	spinal stenosis	9.8
184	malignant pleural mesothelioma	9.8
185	end stage renal failure	9.8
186	chronic kidney disease	9.8
187	mediastinitis	9.8
188	peritonitis	9.8
189	retinal degeneration	9.8
190	influenza	9.8
191	arthritis	9.8
192	lung disease	9.8
193	chronic fatigue syndrome	9.8
194	chickenpox	9.8
195	eating disorder	9.8
196	neuropathy	9.8
197	learning disability	9.8
198	cutaneous leishmaniasis	9.8
199	mucocutaneous leishmaniasis	9.8
200	achalasia	9.8
201	diabetes mellitus	9.8
202	allergic asthma	9.8
203	fatty liver disease	9.8
204	47,xyy	9.8
205	hypertrophic cardiomyopathy	9.8
206	acute respiratory distress syndrome	9.8
207	allergic angiitis	9.8
208	bronchopulmonary dysplasia	9.8
209	eosinophilic granulomatosis with polyangiitis	9.8
210	idiopathic achalasia	9.8
211	ring chromosome 13	9.8
212	headache	9.8
213	seizure disorder	9.8
214	spinal cord injury	9.8
215	tremor	9.8
216	obsolete: atypical teratoid/rhabdoid tumor	9.8
217	virus-associated trichodysplasia spinulosa	9.8
218	motor stereotypies	9.8
219	serotonin syndrome	9.8
220	coronary ostial stenosis or atresia	9.8
221	calcifying epithelial odontogenic tumor	9.8	PTCH1 KRT8
222	odontoma	9.7	KRT8 KRT14
223	cervical clear cell adenocarcinoma	9.6	KRT8 KRT14
224	pregnancy adenoma	9.6	KRT8 KRT14
225	basaloid squamous cell carcinoma	9.6	KRT8 KRT14
226	intraneural perineurioma	9.6	KRT8 KRT14
227	breast fibroadenoma	9.5	KRT8 KRT14
228	primary cutaneous amyloidosis	9.5	KRT8 KRT14
229	sweat gland cancer	9.5	KRT8 KRT14
230	craniopharyngioma	9.4	KRT8 KRT14
231	ductal carcinoma in situ	9.4	KRT8 KRT14
232	melanoma, uveal	9.4	KRT8 BAP1
233	apocrine sweat gland neoplasm	9.3	KRT8 KRT14 CYLD
234	ameloblastoma	9.2	PTCH1 KRT8 KRT14
235	papilloma	9.1	KRT8 KRT14

Graphical network of the top 20 diseases related to Brooke-Spiegler Syndrome:

Sources

Symptoms & Phenotypes for Brooke-Spiegler Syndrome

Human phenotypes related to Brooke-Spiegler Syndrome:

³² (showing 2, show less)

#	Description	HPO Frequency	HPO Source Accession
1	neoplasm ³²		HP:0002664
2	milia ³²		HP:0001056

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skin Nails Hair Skin:
milia
cylindromas, multiple (usually occur on the scalp, but may also occur on the face, trunk, and extremities)
trichoepitheliomas, multiple (usually occur in the nasolabial folds, nose, or face)
spiradenomas

Neoplasia:
skin appendage tumors may show malignant transformation
parotid gland adenoma and adenocarcinoma

Clinical features from OMIM:

605041

MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

⁴⁶ (showing 12, show less)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary	MP:0005381	9.91	BAP1 CYLD KRT14 KRT8 PTCH1
2	growth/size/body region	MP:0005378	9.88	BAP1 CYLD KRT14 KRT8 PTCH1
3	hematopoietic system	MP:0005397	9.83	BAP1 CYLD KRT14 KRT8 PTCH1
4	endocrine/exocrine gland	MP:0005379	9.8	BAP1 CYLD KRT14 PTCH1
5	homeostasis/metabolism	MP:0005376	9.8	BAP1 CYLD KRT14 KRT8 PTCH1
6	immune system	MP:0005387	9.77	BAP1 CYLD KRT14 KRT8 PTCH1
7	mortality/aging	MP:0010768	9.65	BAP1 CYLD KRT14 KRT8 PTCH1
8	hearing/vestibular/ear	MP:0005377	9.63	KRT14 KRT8 PTCH1
9	integument	MP:0010771	9.62	BAP1 CYLD KRT14 PTCH1
10	neoplasm	MP:0002006	9.46	BAP1 CYLD KRT14 PTCH1
11	reproductive system	MP:0005389	9.26	BAP1 KRT14 KRT8 PTCH1
12	respiratory system	MP:0005388	8.92	BAP1 CYLD KRT14 PTCH1

Sources

Drugs & Therapeutics for Brooke-Spiegler Syndrome

Drugs for Brooke-Spiegler Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 3, show less)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Talimogene laherparepvec

Approved, Experimental, Investigational

Phase 2

1187560-31-1

nivolumab

Approved

Phase 2

946414-94-4

Antineoplastic Agents, Immunological

Phase 2

Interventional clinical trials:

(showing 1, show less)

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase II Study of Talimogene Laherparepvec Followed by Talimogene Laherparepvec + Nivolumab in Refractory T Cell and NK Cell Lymphomas, Cutaneous Squamous Cell Carcinoma, Merkel Cell Carcinoma, and Other Rare Skin Tumors	Suspended	NCT02978625	Phase 2

Search NIH Clinical Center for Brooke-Spiegler Syndrome

Cochrane evidence based reviews: carcinoma, skin appendage

Sources

Genetic Tests for Brooke-Spiegler Syndrome

Genetic tests related to Brooke-Spiegler Syndrome:

#	Genetic test	Affiliating Genes
1	Spiegler-Brooke Syndrome ²⁹	CYLD

Sources

Anatomical Context for Brooke-Spiegler Syndrome

MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

⁴¹

Skin, Salivary Gland, Eye, T Cells, Nk Cells, Lymph Node, Smooth Muscle

Sources

Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

(showing 141, show less)

#	Title	Authors	PMID	Year
1	CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. ³⁸ ⁸ ⁷¹	Young AL...Celebi JT	16922728	2006
2	Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. ³⁸ ⁸ ⁷¹	Bowen S...Celebi JT	15854031	2005
3	A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. ³⁸ ⁸ ⁷¹	Hu G...Celebi JT	14632188	2003
4	Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome. ³⁸ ⁸ ⁷¹	Scheinfeld N...Celebi JT	12950348	2003
5	Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. ³⁸ ⁸ ⁷¹	Poblete Gutierrez P...Frank J	12190880	2002
6	Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. ⁸ ⁷¹	Nasti S...Ghiorzo P	19807742	2009
7	Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. ³⁸ ⁸	Blake PW...Toro JR	19462465	2009
8	CYLD mutations in familial skin appendage tumours. ³⁸ ⁸	Saggar S...Celebi JT	18234730	2008
9	Genetics of skin appendage neoplasms and related syndromes. ³⁸ ⁸	Lee DA...Celebi JT	16272260	2005
10	Brooke-Spiegler syndrome locus assigned to 16q12-q13. ³⁸ ⁸	Fenske C...Carter N	10792569	2000
11	Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. ³⁸ ⁸	Puig L...de Moragas JM	9504671	1998
12	A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome. An immunohistochemical study with cytokeratins. ³⁸ ⁸	Schirren CG...Plewig G	8835176	1995
13	Spiradenomas in Brooke-Spiegler syndrome. ³⁸ ⁸	Weyers W...Schill WB	7684205	1993
14	Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China. ⁷¹	Liang YH...Zhang XJ	16307661	2005
15	Identification of the familial cylindromatosis tumour-suppressor gene. ⁷¹	Bignell GR...Rasmussen S	10835629	2000
16	Familial cutaneous cylindromas: investigations in five generations of a family. ⁸	Gerretsen AL...van Vloten WA	7622645	1995
17	Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma. ⁸	Autio-Harmainen H...Leisti J	3275484	1988
18	Familial clustering of salivary gland carcinoma in Greenland. ⁸	Merrick Y...Hansen HS	3955517	1986
19	[On the nosology of Spiegler-Brookes tumors]. ⁸	GUGGENHEIM W...SCHNYDER UW	13709529	1961
20	Brooke-Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma. ³⁸	Cakmak Genc G...Acuner B	30252697	2019
21	[Cylindromas-rare but striking]. ³⁸	Loser C...Dippel E	31428801	2019
22	Brooke-Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis. ³⁸	Hattori Y...Seishima M	30628115	2019
23	Trichoblastic carcinoma arising in trichoepithelioma in Brooke-Spiegler syndrome. ³⁸	Leelamma JP...Kandasamy S	30971565	2019
24	Clinical, genetic and experimental studies of the Brooke-Spiegler (CYLD) skin tumor syndrome. ³⁸	Andersson MK...Stenman G	30676842	2019
25	p63 and smooth muscle actin expression in low-grade spiradenocarcinomas in a case of CYLD cutaneous syndrome. ³⁸	Hoyle A...Melly L	29962004	2018
26	A trichogenic tumor with aggressive features initially diagnosed as basal cell carcinoma. ³⁸	Kwock JT...Pavlis MB	30677834	2018
27	Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene. ³⁸	Parren LJMT...Frank J	29974194	2018
28	CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome. ³⁸	Parren LJMT...Frank J	29478249	2018
29	Turban Tumor: A Classical Presentation of Brooke-Spiegler Syndrome. ³⁸	Patra S...Kumar R	30050828	2018
30	[Turban tumour with intracranial invasion]. ³⁸	Lauritzen E...Schmidt G	29809129	2018
31	A rare case of Brooke-Spiegler syndrome: integrated surgical treatment of multiple giant eccrine spiradenomas of the head and neck in a young girl. ³⁸	Portincasa A...Parisi D	30241087	2018
32	Brooke-Spiegler Syndrome. ³⁸	Mohiuddin W...Cruse W	30093932	2018
33	Brooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma. ³⁸	Cure K...Degirmentepe E	28976013	2017
34	Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. ³⁸	Kyrpychova L...Kazakov DV	28098597	2017
35	A Simple and Effective Method for Treating Cylindromas in Brooke-Spiegler Syndrome. ³⁸	Lucas-Truyols S...Gimeno-Carpio E	28388989	2017
36	An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region. ³⁸	Kennedy RA...Diaz-Cano S	28110467	2017
37	Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome. ³⁸	Aguilera CA...Barrios ML	27688459	2016
38	Cutaneous cylindroma: it's all about MYB. ³⁸	Corda G...Sala A	27185061	2016
39	Overexpression of MYB drives proliferation of CYLD-defective cylindroma cells. ³⁸	Rajan N...Stenman G	26969893	2016
40	Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. ³⁸	Kazakov DV	26971504	2016
41	Eccrine cylindroma of the face and scalp. ³⁸	Manicketh I...Ghosh PK	27294061	2016
42	A case of Brooke-Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin's lymphoma. ³⁸	Hunstig F...La Rosee P	26660106	2016
43	The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene. ³⁸	Farkas K...Nagy N	26861065	2016
44	Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation. ³⁸	Tantcheva-Poor I...Kazakov DV	26329847	2016
45	A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. ³⁸	Shiver M...Gao L	25976026	2016
46	A rare case of eccrine spiradenoma-treatment and management. ³⁸	Dhua S...Sekhar DR	27069311	2016
47	Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation. ³⁸	Pinho AC...Goncalo MM	26512302	2015
48	Brooke-Spiegler syndrome presenting multiple concurrent cutaneous and parotid gland neoplasms: cytologic findings on fine-needle sample and description of a novel mutation of the CYLD gene. ³⁸	Malzone MG...Fulciniti F	25995191	2015
49	Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. ³⁸	Vega-Memije ME...Cuevas-Gonzalez JC	26861436	2015
50	Phenotype-genotype correlations for clinical variants caused by CYLD mutations. ³⁸	Nagy N...Szell M	25782638	2015
51	Malignant cylindroma in a patient with Brooke-Spiegler syndrome. ³⁸	Borik L...Kazlouskaya V	26114054	2015
52	A novel CYLD germline mutation in Brooke-Spiegler syndrome. ³⁸	Guardoli D...Longo C	25131725	2015
53	Cylindroma: an update. ³⁸	Jordao C...Ramos-e-Silva M	25515269	2015
54	CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. ³⁸	Dubois A...Rajan N	25737804	2015
55	Spiradenoma and cylindroma originate from the hair follicle bulge and not from the eccrine sweat gland: an immunohistochemical study with CD200 and other stem cell markers. ³⁸	Sellheyer K	25354097	2015
56	Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. ³⁸	Denadai R...Raposo-Amaral CE	25502717	2015
57	Enucleation of cylindromas in Brooke-Spiegler syndrome: a novel surgical technique. ³⁸	Brass D...Langtry J	25361203	2014
58	Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma. ³⁸	Vanecek T...Kazakov DV	25347032	2014
59	Late-onset Brooke-Spiegler syndrome with family histories of various cancers. ³⁸	Matsuda M...Hashimoto T	24628357	2014
60	[CO2 laser treatment of skin cylindromas in Brooke-Spiegler syndrome]. ³⁸	Richard A...Dompmartin A	24835647	2014
61	Atypical adnexal tumors adjacent to basal cell carcinoma: a difficult problem in patients with Brooke-Spiegler syndrome undergoing Mohs surgery. ³⁸	Launhardt A...North J	24372646	2014
62	Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor. ³⁸	Ponti G...Nasti S	24559443	2014
63	A novel therapeutic strategy for turban tumor: scalp excision and combined reconstruction with artificial dermis and split skin graft. ³⁸	Parren LJ...Tuinder S	24261462	2014
64	Brooke-spiegler syndrome: a rare entity. ³⁸	Rathi M...Kumar A	24587929	2014
65	Syndrome in question. Brooke-Spiegler syndrome. ³⁸	Lavorato FG...Silva RS	24626672	2014
66	Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. ³⁸	Chen M...Chen S	24261740	2013
67	Cylindroma of head and neck: review of the literature and report of two rare cases. ³⁸	Singh DD...Handschel J	23260808	2013
68	[Multiple familial trichoepithelioma: a new CYLD gene mutation]. ³⁸	Duparc A...Modiano P	23567228	2013
69	A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome. ³⁸	Kacerovska D...Kazakov D	23641715	2013
70	Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens. ³⁸	Grossmann P...Kazakov DV	23249834	2013
71	A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome. ³⁸	Kacerovska D...Kazakov DV	22588548	2013
72	A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. ³⁸	Hester CC...Seiff SR	22689134	2013
73	Malign cylindroma of the scalp with multiple cervical lymph node metastasis-A case report. ³⁸	Akgul GG...Gulcelik MA	23702364	2013
74	Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. ³⁸	Peltonen S...Kankuri-Tammilehto M	22735777	2013
75	Brooke-Spiegler syndrome. ³⁸	Trufant J...Patel R	23286806	2012
76	Spiradenomas. ³⁸	Tran K...Sanchez M	23286805	2012
77	A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome. ³⁸	Nagy N...Szell M	23171463	2012
78	Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. ³⁸	Melly L...Rajan N	22882113	2012
79	Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. ³⁸	Chaudhary S...Dayal S	22948057	2012
80	Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. ³⁸	Ponti G...Seidenari S	22077640	2012
81	Multiple facial cylindromas: a case report. ³⁸	Nath AK...Udayashankar C	22398229	2012
82	Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. ³⁸	Kalina P...El-Azhary R	22606564	2012
83	Brooke-spiegler syndrome: a rare entity. ³⁸	Manchanda K...Pandey S	22628987	2012
84	Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. ³⁸	LoPiccolo MC...Kouba DJ	21388481	2011
85	Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. ³⁸	Kazakov DV...Michal M	21389835	2011
86	Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis. ³⁸	van den Ouweland AM...Houweling AC	20972631	2011
87	Down-regulation of CYLD as a trigger for NF-κB activation and a mechanism of apoptotic resistance in hepatocellular carcinoma cells. ³⁸	Urbanik T...Schulze-Bergkamen H	21109933	2011
88	[Carbon dioxide-laser treatment of trichoepitheliomas in Brooke-Spiegler syndrome]. ³⁸	Allende I...Boixeda P	21315872	2011
89	Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors. ³⁸	Kazakov DV...Michal M	20132422	2010
90	Multiple trichoepitheliomas--a novel mutation in the CYLD gene. ³⁸	Amaro C...Heinritz W	19929939	2010
91	[Sudden growth of previously indolent scalp nodule]. ³⁸	Schmaltz R...Vogt T	20490442	2010
92	Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type. ³⁸	Sima R...Kazakov DV	20502185	2010
93	Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome. ³⁸	Kazakov DV...Michal M	20075707	2010
94	New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. ³⁸	Scholz IM...Naher H	20151946	2010
95	Primary and metastatic malignant tumors of the scalp: an update. ³⁸	Richmond HM...Macfarlane DF	20509718	2010
96	Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction. ³⁸	Rajan N...Trainer AH	19917957	2009
97	Skin type spiradenoma of the parotid gland with malignant transformation: report of a case with analysis of the CYLD gene. ³⁸	Kazakov DV...Skalova A	19454360	2009
98	A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology. ³⁸	Kazakov DV...Michal M	19668078	2009
99	Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome. ³⁸	Petersson F...Kazakov DV	19633533	2009
100	[Do you know this syndrome?]. ³⁸	Parente JN...Schettini RA	20098863	2009
101	Dermoscopy of Brooke-Spiegler syndrome. ³⁸	Jarrett R...Bowling J	19620580	2009
102	Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome. ³⁸	Kazakov DV...Michal M	19194280	2009
103	Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. ³⁸	Rajan N...Langtry JA	19397670	2009
104	Treatment of cutaneous tumors with topical 5% imiquimod cream. ³⁸	Alessi SS...Festa Neto C	19841702	2009
105	Brooke-Spiegler syndrome with associated pegged teeth. ³⁸	Carlson RM...Pui JC	19090338	2008
106	Brooke-Spiegler syndrome. ³⁸	Layegh P...Moghiman T	19171990	2008
107	Brooke-Spiegler syndrome complicated by unilateral hearing loss. ³⁸	Parren LJ...Frank J	18986490	2008
108	Trichoepithelioma. ³⁸	Johnson H...Sanchez M	19061604	2008
109	Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. ³⁸	Doherty SD...Joseph AK	18718192	2008
110	Five new CYLD mutations in skin appendage tumors and evidence that aspartic acid 681 in CYLD is essential for deubiquitinase activity. ³⁸	Almeida S...Huber M	17851586	2008
111	Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome. ³⁸	Sicinska J...Rudnicka L	21886698	2007
112	Brooke-Spiegler syndrome - report of four families: treatment with CO2 laser. ³⁸	Retamar RA...Chouela EN	17550556	2007
113	Benign cylindroma causing transcalvarial invasion in a patient with familial cylindromatosis. ³⁸	Gildea JH...Kleinschmidt-DeMasters BK	19157004	2007
114	Brooke-Spiegler syndrome. ³⁸	Kim C...Dosik J	17511943	2007
115	[Brooke-Spiegler syndrome: an heterogeneous entity]. ³⁸	Mataix J...Lucas A	17173833	2006
116	Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. ³⁸	Zhang G...Zhang X	17083363	2006
117	[Brooke-Spiegler syndrome]. ³⁸	Zaraa I...Kamoun MR	17263207	2006
118	A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene. ³⁸	Heinritz W...Simon JC	16634909	2006
119	Brooke-Spiegler syndrome: treatment with laser ablation. ³⁸	Rallan D...Harland CC	15953067	2005
120	Psoriasis and Brooke-Spiegler syndrome with multiple malignancies. ³⁸	Kostler E...Wollina U	15857473	2005
121	Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. ³⁸	Kazakov DV...Michal M	15677973	2005
122	Carcinosarcoma arising in a patient with multiple cylindromas. ³⁸	De Francesco V...Patrone P	15677972	2005
123	High-grade trichoblastic carcinoma arising in trichoblastoma: a rare adnexal neoplasm often showing metastatic spread. ³⁸	Schulz T...Wunsch PH	15677970	2005
124	Case of the Brooke-Spiegler syndrome. ³⁸	Ly H...Robson A	15527432	2004
125	Cylindroma of the breast of skin adnexal type: a study of 4 cases. ³⁸	Nonaka D...Bisceglia M	15252315	2004
126	Brooke-Spiegler syndrome with parotid gland involvement. ³⁸	Kakagia D...Lambropoulou M	15246936	2004
127	Case 3. Brooke-Spiegler syndrome. ³⁸	Kakagia D...Alexiadis G	15115535	2004
128	Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma, spiradenoma, and syringoma. ³⁸	Uede K...Furukawa F	14739501	2004
129	Pedigree of multiple benign adnexal tumours of Brooke-Spiegler type. ³⁸	Saunders H...Watkins F	12752191	2003
130	[Cylindrocarcinoma in a patient with Brooke-Spiegler syndrome]. ³⁸	Volter C...Rose C	11967778	2002
131	[Cylindrospiradenomas in Brooke-Spiegler syndrome]. ³⁸	Braun-Falco M...Ring J	11757456	2001
132	Malignant transformation of multiple dermal cylindromas. ³⁸	Durani BK...Hartschuh W	11703297	2001
133	Ossified cylindroma in familial cylindromatosis (Brooke-Spiegler syndrome). ³⁸	Kanitakis J...Disant F	11493383	2001
134	Brooke-Spiegler syndrome. ³⁸	Szepietowski JC...Schwartz RA	11730050	2001
135	Brooke-Spiegler syndrome: treatment of cylindromas with CO2 laser. ³⁸	Martins C...Bartolo E	10971563	2000
136	Malignant cylindroma in Brooke-Spiegler syndrome. ³⁸	Pizinger K...Michal M	11096200	2000
137	Turban tumour with involvement of the parotid gland. ³⁸	Jungehulsing M...Damm M	10748863	1999
138	[Brooke-Spiegler syndrome]. ³⁸	Garat H...Bazex J	10495861	1999
139	The clinicopathological features of familial cylindromas and trichoepitheliomas (Brooke-Spiegler syndrome): a report of two families. ³⁸	Burrows NP...Smith NP	1333921	1992
140	Multiple hereditary trichoepithelioma and cylindroma (Brooke-Spiegler syndrome). ³⁸	Delfino M...Donofrio V	1660416	1991
141	[Coincidence of multiple cylindroma and trichoepitheliomas (Brooke-Spiegler-Syndrome)]. ³⁸	Korting HC...Konz B	6282779	1982

Sources

Genes for Brooke-Spiegler Syndrome

Genes related to Brooke-Spiegler Syndrome (1 elite genes):

(showing 5, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CYLD	CYLD Lysine 63 Deubiquitinase	Protein Coding	1358.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	12950348 15854031 19807742 (more) 16922728 12190880 14632188 10835629 16307661
2	PTCH1	Patched 1	Protein Coding	21.41	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	KRT14	Keratin 14	Protein Coding	20.69	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	KRT8	Keratin 8	Protein Coding	20.6	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	BAP1	BRCA1 Associated Protein 1	Protein Coding	17.39	GeneCards inferred via : Publications (show sections)

Sources

Variations for Brooke-Spiegler Syndrome

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

⁶ (showing 93, show less)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	CYLD	NM_015247.2(CYLD): c.968_977del (p.Ser323fs)	deletion	Pathogenic	rs886040870	16:50810135-50810144	16:50776224-50776233
2	CYLD	NM_015247.2(CYLD): c.1537dup (p.Cys513fs)	duplication	Pathogenic	rs886040874	16:50815175-50815175	16:50781264-50781264
3	CYLD	NM_015247.2(CYLD): c.1599dup (p.Val534fs)	duplication	Pathogenic	rs886040875	16:50815237-50815237	16:50781326-50781326
4	CYLD	NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys)	single nucleotide variant	Pathogenic	rs886040884	16:50821763-50821763	16:50787852-50787852
5	CYLD	NM_015247.2(CYLD): c.2138_2139dup (p.Phe714fs)	duplication	Pathogenic	rs886040885	16:50825498-50825499	16:50791587-50791588
6	CYLD	CYLD, 1-BP DEL, 2253G	deletion	Pathogenic
7	CYLD	CYLD, 1-BP DEL, 2172A	deletion	Pathogenic
8	CYLD	NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly)	single nucleotide variant	Pathogenic	rs121908389	16:50825600-50825600	16:50791689-50791689
9	CYLD	NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)	single nucleotide variant	Pathogenic	rs121908390	16:50830354-50830354	16:50796443-50796443
10	CYLD	CYLD, 1-BP DUP, 1392T	duplication	Pathogenic
11	CYLD	NM_015247.2(CYLD): c.1503C> T (p.Leu501=)	single nucleotide variant	Uncertain significance	rs752471076	16:50813940-50813940	16:50780029-50780029
12	CYLD	NM_015247.2(CYLD): c.2342T> C (p.Leu781Pro)	single nucleotide variant	Uncertain significance	rs886040889	16:50826608-50826608	16:50792697-50792697
13	CYLD	NM_015247.2(CYLD): c.-161A> G	single nucleotide variant	Uncertain significance	rs886052051	16:50778740-50778740	16:50744829-50744829
14	CYLD	NM_015247.2(CYLD): c.-23A> C	single nucleotide variant	Uncertain significance	rs771486432	16:50783587-50783587	16:50749676-50749676
15	CYLD	NM_015247.2(CYLD): c.*1667G> T	single nucleotide variant	Uncertain significance	rs750022206	16:50832086-50832086	16:50798175-50798175
16	CYLD	NM_015247.2(CYLD): c.*1746C> T	single nucleotide variant	Uncertain significance	rs886052057	16:50832165-50832165	16:50798254-50798254
17	CYLD	NM_015247.2(CYLD): c.*1810A> T	single nucleotide variant	Uncertain significance	rs886052058	16:50832229-50832229	16:50798318-50798318
18	CYLD	NM_015247.2(CYLD): c.*2556A> G	single nucleotide variant	Uncertain significance	rs747682326	16:50832975-50832975	16:50799064-50799064
19	CYLD	NM_015247.2(CYLD): c.*2975C> T	single nucleotide variant	Uncertain significance	rs886052062	16:50833394-50833394	16:50799483-50799483
20	CYLD	NM_015247.2(CYLD): c.*3305A> G	single nucleotide variant	Uncertain significance	rs886052065	16:50833724-50833724	16:50799813-50799813
21	CYLD	NM_015247.2(CYLD): c.*1308A> G	single nucleotide variant	Uncertain significance	rs886052054	16:50831727-50831727	16:50797816-50797816
22	CYLD	NM_015247.2(CYLD): c.*4494G> A	single nucleotide variant	Uncertain significance	rs546313281	16:50834913-50834913	16:50801002-50801002
23	CYLD	NM_015247.2(CYLD): c.*4702C> T	single nucleotide variant	Uncertain significance	rs886052070	16:50835121-50835121	16:50801210-50801210
24	CYLD	NM_015247.2(CYLD): c.*4841G> A	single nucleotide variant	Uncertain significance	rs886052071	16:50835260-50835260	16:50801349-50801349
25	CYLD	NM_015247.2(CYLD): c.*5384A> G	single nucleotide variant	Uncertain significance	rs886052072	16:50835803-50835803	16:50801892-50801892
26	CYLD	NM_015247.2(CYLD): c.-366G> C	single nucleotide variant	Uncertain significance	rs886052050	16:50776010-50776010	16:50742099-50742099
27	CYLD	NM_015247.2(CYLD): c.*403T> C	single nucleotide variant	Uncertain significance	rs886052052	16:50830822-50830822	16:50796911-50796911
28	CYLD	NM_015247.2(CYLD): c.*1727T> C	single nucleotide variant	Uncertain significance	rs886052056	16:50832146-50832146	16:50798235-50798235
29	CYLD	NM_015247.2(CYLD): c.*2438G> A	single nucleotide variant	Uncertain significance	rs886052061	16:50832857-50832857	16:50798946-50798946
30	CYLD	NM_015247.2(CYLD): c.*3722T> G	single nucleotide variant	Uncertain significance	rs886052067	16:50834141-50834141	16:50800230-50800230
31	CYLD	NM_015247.2(CYLD): c.59T> G (p.Ile20Ser)	single nucleotide variant	Uncertain significance	rs764097337	16:50783668-50783668	16:50749757-50749757
32	CYLD	NM_015247.2(CYLD): c.2145T> C (p.Tyr715=)	single nucleotide variant	Uncertain significance	rs200905032	16:50825505-50825505	16:50791594-50791594
33	CYLD	NM_015247.2(CYLD): c.*468A> C	single nucleotide variant	Uncertain significance	rs886052053	16:50830887-50830887	16:50796976-50796976
34	CYLD	NM_015247.2(CYLD): c.*831C> T	single nucleotide variant	Uncertain significance	rs144877731	16:50831250-50831250	16:50797339-50797339
35	CYLD	NM_015247.2(CYLD): c.*1587dup	duplication	Uncertain significance	rs886052055	16:50832006-50832006	16:50798095-50798095
36	CYLD	NM_015247.2(CYLD): c.*4691A> G	single nucleotide variant	Uncertain significance	rs886052069	16:50835110-50835110	16:50801199-50801199
37	CYLD	NM_015247.2(CYLD): c.*3000C> G	single nucleotide variant	Uncertain significance	rs886052063	16:50833419-50833419	16:50799508-50799508
38	CYLD	NM_015247.2(CYLD): c.*3229C> T	single nucleotide variant	Uncertain significance	rs752862278	16:50833648-50833648	16:50799737-50799737
39	CYLD	NM_015247.2(CYLD): c.*3384G> A	single nucleotide variant	Uncertain significance	rs886052066	16:50833803-50833803	16:50799892-50799892
40	CYLD	NM_015247.2(CYLD): c.*4388C> T	single nucleotide variant	Uncertain significance	rs781004605	16:50834807-50834807	16:50800896-50800896
41	CYLD	NM_015247.2(CYLD): c.*4470C> A	single nucleotide variant	Uncertain significance	rs755710819	16:50834889-50834889	16:50800978-50800978
42	CYLD	NM_015247.2(CYLD): c.543C> T (p.Tyr181=)	single nucleotide variant	Uncertain significance	rs752294416	16:50785553-50785553	16:50751642-50751642
43	CYLD	NM_015247.2(CYLD): c.1166C> G (p.Thr389Arg)	single nucleotide variant	Uncertain significance	rs200759332	16:50813603-50813603	16:50779692-50779692
44	CYLD	NM_015247.2(CYLD): c.2465C> T (p.Thr822Ile)	single nucleotide variant	Uncertain significance	rs775394735	16:50827571-50827571	16:50793660-50793660
45	CYLD	NM_015247.2(CYLD): c.*1983T> C	single nucleotide variant	Uncertain significance	rs867027657	16:50832402-50832402	16:50798491-50798491
46	CYLD	NM_015247.2(CYLD): c.2121_2122del	deletion	Uncertain significance	rs74757288	16:50832540-50832541	16:50798629-50798630
47	CYLD	NM_015247.2(CYLD): c.*2856T> C	single nucleotide variant	Uncertain significance	rs778856255	16:50833275-50833275	16:50799364-50799364
48	CYLD	NM_015247.2(CYLD): c.*3119del	deletion	Uncertain significance	rs149875014	16:50833538-50833538	16:50799627-50799627
49	CYLD	NM_015247.2(CYLD): c.*3148T> C	single nucleotide variant	Uncertain significance	rs555603514	16:50833567-50833567	16:50799656-50799656
50	CYLD	NM_015247.2(CYLD): c.*4485G> C	single nucleotide variant	Uncertain significance	rs886052068	16:50834904-50834904	16:50800993-50800993
51	CYLD	NM_015247.2(CYLD): c.*4885A> T	single nucleotide variant	Likely benign	rs184571054	16:50835304-50835304	16:50801393-50801393
52	CYLD	NM_015247.2(CYLD): c.*3679T> C	single nucleotide variant	Likely benign	rs141888517	16:50834098-50834098	16:50800187-50800187
53	CYLD	NM_015247.2(CYLD): c.*2236C> T	single nucleotide variant	Likely benign	rs57638820	16:50832655-50832655	16:50798744-50798744
54	CYLD	NM_015247.2(CYLD): c.*2335T> C	single nucleotide variant	Likely benign	rs9646285	16:50832754-50832754	16:50798843-50798843
55	CYLD	NM_015247.2(CYLD): c.*2369G> A	single nucleotide variant	Likely benign	rs16948829	16:50832788-50832788	16:50798877-50798877
56	CYLD	NM_015247.2(CYLD): c.*2710C> T	single nucleotide variant	Likely benign	rs141928186	16:50833129-50833129	16:50799218-50799218
57	CYLD	NM_015247.2(CYLD): c.2319G> A (p.Leu773=)	single nucleotide variant	Likely benign	rs199912760	16:50826585-50826585	16:50792674-50792674
58	CYLD	NM_015247.2(CYLD): c.*382T> C	single nucleotide variant	Likely benign	rs142580891	16:50830801-50830801	16:50796890-50796890
59	CYLD	NM_015247.2(CYLD): c.*779G> A	single nucleotide variant	Likely benign	rs190787930	16:50831198-50831198	16:50797287-50797287
60	CYLD	NM_015247.2(CYLD): c.*1831G> A	single nucleotide variant	Likely benign	rs181246559	16:50832250-50832250	16:50798339-50798339
61	CYLD	NM_015247.2(CYLD): c.922+9C> A	single nucleotide variant	Likely benign	rs528253971	16:50809094-50809094	16:50775183-50775183
62	CYLD	NM_015247.2(CYLD): c.*4947G> A	single nucleotide variant	Likely benign	rs567438576	16:50835366-50835366	16:50801455-50801455
63	CYLD	NM_015247.2(CYLD): c.*5086A> G	single nucleotide variant	Likely benign	rs572929759	16:50835505-50835505	16:50801594-50801594
64	CYLD	NM_015247.2(CYLD): c.*5272C> T	single nucleotide variant	Likely benign	rs140875917	16:50835691-50835691	16:50801780-50801780
65	CYLD	NM_015247.2(CYLD): c.126G> A (p.Pro42=)	single nucleotide variant	Likely benign	rs202119806	16:50783735-50783735	16:50749824-50749824
66	CYLD	NM_015247.2(CYLD): c.*3614C> A	single nucleotide variant	Likely benign	rs372370285	16:50834033-50834033	16:50800122-50800122
67	CYLD	NM_015247.2(CYLD): c.*3736G> A	single nucleotide variant	Likely benign	rs567662515	16:50834155-50834155	16:50800244-50800244
68	CYLD	NM_015247.2(CYLD): c.*3070A> G	single nucleotide variant	Likely benign	rs144667145	16:50833489-50833489	16:50799578-50799578
69	CYLD	NM_015247.2(CYLD): c.*1590T> C	single nucleotide variant	Likely benign	rs528844666	16:50832009-50832009	16:50798098-50798098
70	CYLD	NM_015247.2(CYLD): c.*2150A> G	single nucleotide variant	Likely benign	rs563954578	16:50832569-50832569	16:50798658-50798658
71	CYLD	NM_015247.2(CYLD): c.*2646G> A	single nucleotide variant	Likely benign	rs563329143	16:50833065-50833065	16:50799154-50799154
72	CYLD	NM_015247.2(CYLD): c.*1341T> G	single nucleotide variant	Likely benign	rs140767609	16:50831760-50831760	16:50797849-50797849
73	CYLD	NM_015247.2(CYLD): c.*2615A> G	single nucleotide variant	Likely benign	rs181056407	16:50833034-50833034	16:50799123-50799123
74	CYLD	NM_015247.2(CYLD): c.*2305A> T	single nucleotide variant	Likely benign	rs559634329	16:50832724-50832724	16:50798813-50798813
75	CYLD	NM_015247.2(CYLD): c.*698T> G	single nucleotide variant	Likely benign	rs541975303	16:50831117-50831117	16:50797206-50797206
76	CYLD	NM_015247.2(CYLD): c.*841G> A	single nucleotide variant	Likely benign	rs117537927	16:50831260-50831260	16:50797349-50797349
77	CYLD	NM_015247.2(CYLD): c.*47G> A	single nucleotide variant	Likely benign	rs116979331	16:50830466-50830466	16:50796555-50796555
78	CYLD	NM_015247.2(CYLD): c.*4567C> T	single nucleotide variant	Likely benign	rs113748745	16:50834986-50834986	16:50801075-50801075
79	CYLD	NM_015247.2(CYLD): c.*1575G> A	single nucleotide variant	Likely benign	rs184344245	16:50831994-50831994	16:50798083-50798083
80	CYLD	NM_015247.2(CYLD): c.*3469T> C	single nucleotide variant	Likely benign	rs111951225	16:50833888-50833888	16:50799977-50799977
81	CYLD	NM_015247.2(CYLD): c.*3731C> T	single nucleotide variant	Likely benign	rs551109634	16:50834150-50834150	16:50800239-50800239
82	CYLD	NM_015247.2(CYLD): c.*3739C> G	single nucleotide variant	Likely benign	rs16948836	16:50834158-50834158	16:50800247-50800247
83	CYLD	NM_015247.2(CYLD): c.1172T> C (p.Ile391Thr)	single nucleotide variant	Likely benign	rs138976689	16:50813609-50813609	16:50779698-50779698
84	CYLD	NM_015247.2(CYLD): c.1473C> T (p.Ile491=)	single nucleotide variant	Likely benign	rs75757530	16:50813910-50813910	16:50779999-50779999
85	CYLD	NM_015247.2(CYLD): c.*1102G> A	single nucleotide variant	Likely benign	rs141088048	16:50831521-50831521	16:50797610-50797610
86	CYLD	NM_015247.2(CYLD): c.*1245T> C	single nucleotide variant	Likely benign	rs192470603	16:50831664-50831664	16:50797753-50797753
87	CYLD	NM_015247.2(CYLD): c.1292G> A (p.Gly431Glu)	single nucleotide variant	Likely benign	rs200494719	16:50813729-50813729	16:50779818-50779818
88	CYLD	NM_015247.2(CYLD): c.*837A> G	single nucleotide variant	Benign	rs3743781	16:50831256-50831256	16:50797345-50797345
89	CYLD	NM_015247.2(CYLD): c.*4561G> A	single nucleotide variant	Benign	rs17314948	16:50834980-50834980	16:50801069-50801069
90	CYLD	NM_015247.2(CYLD): c.4888_4889del	deletion	Benign	rs143814807	16:50835307-50835308	16:50801396-50801397
91	CYLD	NM_015247.2(CYLD): c.2109-10G> A	single nucleotide variant	Benign	rs11865799	16:50825459-50825459	16:50791548-50791548
92	CYLD	NM_015247.2(CYLD): c.2412C> T (p.Asp804=)	single nucleotide variant	Benign	rs2066852	16:50827518-50827518	16:50793607-50793607
93	CYLD	NM_015247.2(CYLD): c.*2122del	deletion	Benign	rs74757288	16:50832541-50832541	16:50798630-50798630

UniProtKB/Swiss-Prot genetic disease variations for Brooke-Spiegler Syndrome:

⁷⁴ (showing 1, show less)

#	Symbol	AA change	Variation ID	SNP ID
1	CYLD	p.Glu747Gly	VAR_045967	rs121908389

Cosmic variations for Brooke-Spiegler Syndrome:

⁹ (showing 1284, show less)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM44097	TP53	skin,face,carcinoma,basal cell carcinoma	c.530C>T	p.P177L	17:7675082-7675082	28
2	COSM44295	TP53	skin,face,carcinoma,basal cell carcinoma	c.993+1G>A	p.?	17:7673534-7673534	28
3	COSM10939	TP53	skin,face,carcinoma,basal cell carcinoma	c.832C>T	p.P278S	17:7673788-7673788	28
4	COSM10662	TP53	skin,face,carcinoma,basal cell carcinoma	c.743G>A	p.R248Q	17:7674220-7674220	28
5	COSM11449	TP53	skin,face,carcinoma,basal cell carcinoma	c.388C>T	p.L130F	17:7675224-7675224	28
6	COSM44068	TP53	skin,face,carcinoma,basal cell carcinoma	c.532C>A	p.H178N	17:7675080-7675080	28
7	COSM10726	TP53	skin,face,carcinoma,basal cell carcinoma	c.856G>A	p.E286K	17:7673764-7673764	28
8	COSM10992	TP53	skin,face,carcinoma,basal cell carcinoma	c.844C>G	p.R282G	17:7673776-7673776	28
9	COSM45733	TP53	skin,face,carcinoma,basal cell carcinoma	c.432G>A	p.Q144Q	17:7675180-7675180	28
10	COSM43700	TP53	skin,face,carcinoma,basal cell carcinoma	c.712T>A	p.C238S	17:7674251-7674251	28
11	COSM44227	TP53	skin,face,carcinoma,basal cell carcinoma	c.854A>T	p.E285V	17:7673766-7673766	28
12	COSM44126	TP53	skin,eye,carcinoma,basal cell carcinoma	c.507G>A	p.M169I	17:7675105-7675105	28
13	COSM44435	TP53	skin,face,carcinoma,basal cell carcinoma	c.96+1G>A	p.?	17:7676381-7676381	28
14	COSM43920	TP53	skin,face,carcinoma,basal cell carcinoma	c.680C>T	p.S227F	17:7674283-7674283	28
15	COSM44436	TP53	skin,face,carcinoma,basal cell carcinoma	c.375+2T>C	p.?	17:7675992-7675992	28
16	COSM11084	TP53	skin,face,carcinoma,basal cell carcinoma	c.517G>A	p.V173M	17:7675095-7675095	28
17	COSM43742	TP53	skin,face,carcinoma,basal cell carcinoma	c.419C>T	p.T140I	17:7675193-7675193	28
18	COSM10887	TP53	skin,face,carcinoma,basal cell carcinoma	c.833C>G	p.P278R	17:7673787-7673787	28
19	COSM44241	TP53	skin,face,carcinoma,basal cell carcinoma	c.592G>T	p.E198*	17:7674939-7674939	28
20	COSM43583	TP53	skin,eye,carcinoma,basal cell carcinoma	c.425C>T	p.P142L	17:7675187-7675187	28
21	COSM44552	TP53	skin,face,carcinoma,basal cell carcinoma	c.509C>T	p.T170M	17:7675103-7675103	28
22	COSM13233	SUFU	skin,face,carcinoma,basal cell carcinoma	c.591C>T	p.F197F	10:102592718-102592718	28
23	COSM13234	SUFU	skin,face,carcinoma,basal cell carcinoma	c.560C>T	p.P187L	10:102592687-102592687	28
24	COSM3942016	SMO	skin,face,carcinoma,basal cell carcinoma	c.1376C>T	p.A459V	7:129209307-129209307	28
25	COSM13145	SMO	skin,face,carcinoma,basal cell carcinoma	c.595C>T	p.R199W	7:129205260-129205260	28
26	COSM216037	SMO	skin,face,carcinoma,basal cell carcinoma	c.1234C>T	p.L412F	7:129206557-129206557	28
27	COSM13144	SMO	skin,face,carcinoma,basal cell carcinoma	c.1598G>A	p.S533N	7:129210494-129210494	28
28	COSM13240	SMO	skin,face,carcinoma,basal cell carcinoma	c.1955C>T	p.A652V	7:129212042-129212042	28
29	COSM17598	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.550C>T	p.Q184*	9:95485719-95485719	28
30	COSM17495	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1229G>A	p.S410N	9:95478173-95478173	28
31	COSM17511	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3583A>T	p.T1195S	9:95449290-95449290	28
32	COSM17522	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3586C>T	p.P1196S	9:95449287-95449287	28
33	COSM14439	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.992C>T	p.S331F	9:95480044-95480044	28
34	COSM17584	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2105C>T	p.P702L	9:95468896-95468896	28
35	COSM14446	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3054G>A	p.W1018*	9:95458127-95458127	28
36	COSM17532	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.768G>A	p.W256*	9:95480567-95480567	28
37	COSM26377	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3449+1G>A	p.?	9:95453477-95453477	28
38	COSM17473	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2308C>T	p.R770*	9:95467368-95467368	28
39	COSM17599	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2120C>T	p.S707F	9:95468881-95468881	28
40	COSM17533	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2251-1G>A	p.?	9:95467426-95467426	28
41	COSM29033	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2038G>T	p.E680*	9:95468963-95468963	28
42	COSM17468	PTCH1	skin,neck,carcinoma,basal cell carcinoma	c.584G>T	p.R195M	9:95485685-95485685	28
43	COSM29043	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1634G>A	p.G545E	9:95476128-95476128	28
44	COSM29071	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3549+5G>A	p.?	9:95449836-95449836	28
45	COSM29045	PTCH1	skin,ear,carcinoma,basal cell carcinoma	c.3168+5G>T	p.?	9:95458008-95458008	28
46	COSM29046	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.747-1G>A	p.?	9:95480589-95480589	28
47	COSM26363	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2446C>T	p.Q816*	9:95467230-95467230	28
48	COSM29053	PTCH1	skin,neck,carcinoma,basal cell carcinoma	c.833G>A	p.W278*	9:95480502-95480502	28
49	COSM17582	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1082A>C	p.Q361P	9:95479133-95479133	28
50	COSM29040	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2693A>G	p.D898G	9:95461866-95461866	28
51	COSM17493	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1316T>C	p.V439A	9:95478086-95478086	28
52	COSM17552	PTCH1	skin,ear,carcinoma,basal cell carcinoma	c.1196G>A	p.W399*	9:95479019-95479019	28
53	COSM29055	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2050G>T	p.E684*	9:95468951-95468951	28
54	COSM29048	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1347+1G>A	p.?	9:95478054-95478054	28
55	COSM17547	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1511C>A	p.P504Q	9:95476850-95476850	28
56	COSM29072	PTCH1	skin,neck,carcinoma,basal cell carcinoma	c.1067+1G>A	p.?	9:95479968-95479968	28
57	COSM144232	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3209T>G	p.M1070R	9:95456373-95456373	28
58	COSM14452	PTCH1	skin,neck,carcinoma,basal cell carcinoma	c.2321G>A	p.G774E	9:95467355-95467355	28
59	COSM17460	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3917C>T	p.P1306L	9:95447339-95447339	28
60	COSM144244	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.994A>T	p.R332*	9:95480042-95480042	28
61	COSM17498	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2033C>T	p.T678I	9:95468968-95468968	28
62	COSM17520	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.584G>A	p.R195K	9:95485685-95485685	28
63	COSM17519	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.463C>T	p.P155S	9:95485806-95485806	28
64	COSM29147	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1356T>G	p.Y452*	9:95477694-95477694	28
65	COSM17494	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.754C>T	p.P252S	9:95480581-95480581	28
66	COSM17462	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1068-2A>T	p.?	9:95479149-95479149	28
67	COSM29061	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.493G>T	p.E165*	9:95485776-95485776	28
68	COSM144239	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1854C>A	p.C618*	9:95469147-95469147	28
69	COSM17585	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2008C>T	p.P670S	9:95468993-95468993	28
70	COSM14467	PTCH1	skin,ear,carcinoma,basal cell carcinoma	c.3236G>T	p.S1079I	9:95456346-95456346	28
71	COSM17497	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1433C>T	p.A478V	9:95477617-95477617	28
72	COSM17492	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1085C>T	p.T362I	9:95479130-95479130	28
73	COSM17530	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2965G>T	p.E989*	9:95458216-95458216	28
74	COSM14464	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1804C>T	p.R602*	9:95469856-95469856	28
75	COSM17496	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2072C>T	p.T691I	9:95468929-95468929	28
76	COSM144245	PTCH1	skin,eye,carcinoma,basal cell carcinoma	c.1585A>T	p.K529*	9:95476776-95476776	28
77	COSM17600	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2207C>T	p.A736V	9:95468794-95468794	28
78	COSM17483	PTCH1	skin,neck,carcinoma,basal cell carcinoma	c.1729-1G>T	p.?	9:95469932-95469932	28
79	COSM17601	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2011C>T	p.H671Y	9:95468990-95468990	28
80	COSM520	KRAS	skin,ear,carcinoma,basal cell carcinoma	c.35G>T	p.G12V	12:25245350-25245350	28
81	COSM133631	BRAF	skin,face,carcinoma,basal cell carcinoma	c.1828T>A	p.F610I	7:140753307-140753307	28
82	COSM133632	BRAF	skin,face,carcinoma,basal cell carcinoma	c.1789C>T	p.L597L	7:140753346-140753346	28
83	COSM6926860	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.5825G>A	p.G1942E	16:72796857-72796857	21
84	COSM6969201	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.11050G>A	p.D3684N	16:72787226-72787226	21
85	COSM6953811	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.1991C>T	p.S664F	16:72958155-72958155	21
86	COSM6926862	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.1261G>A	p.G421R	16:72958885-72958885	21
87	COSM6936924	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.10847C>T	p.S3616F	16:72787429-72787429	21
88	COSM3691166	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.2084C>T	p.P695L	16:72958062-72958062	21
89	COSM6926861	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.1655C>T	p.S552F	16:72958491-72958491	21
90	COSM6982918	YES1	skin,eye,carcinoma,NS	c.851G>A	p.G284E	18:743289-743289	21
91	COSM212945	XPO1	skin,NS,carcinoma,basal cell carcinoma	c.782G>A	p.R261Q	2:61496985-61496985	21
92	COSM6936922	TSC2	skin,NS,carcinoma,basal cell carcinoma	c.2060C>T	p.S687F	16:2071897-2071897	21
93	COSM6926855	TSC2	skin,NS,carcinoma,basal cell carcinoma	c.679T>A	p.C227S	16:2056674-2056674	21
94	COSM6953809	TSC2	skin,NS,carcinoma,basal cell carcinoma	c.869C>T	p.P290L	16:2058767-2058767	21
95	COSM4736805	TSC1	skin,eye,carcinoma,NS	c.2065C>T	p.R689C	9:132903794-132903794	21
96	COSM6912933	TRAF7	skin,NS,carcinoma,basal cell carcinoma	c.1802C>T	p.T601I	16:2176104-2176104	21
97	COSM6971614	TRAF7	skin,eye,carcinoma,NS	c.349G>A	p.E117K	16:2171264-2171264	21
98	COSM6949578	TP63	skin,NS,carcinoma,basal cell carcinoma	c.1922C>T	p.A641V	3:189894381-189894381	21
99	COSM44071	TP53	skin,NS,carcinoma,basal cell carcinoma	c.955A>G	p.K319E	17:7673573-7673573	21
100	COSM10812	TP53	skin,NS,carcinoma,basal cell carcinoma	c.722C>T	p.S241F	17:7674241-7674241	21
101	COSM10988	TP53	skin,NS,carcinoma,basal cell carcinoma	c.772G>A	p.E258K	17:7674191-7674191	21
102	COSM45074	TP53	skin,NS,carcinoma,basal cell carcinoma	c.829T>G	p.C277G	17:7673791-7673791	21
103	COSM10728	TP53	skin,NS,carcinoma,basal cell carcinoma	c.839G>A	p.R280K	17:7673781-7673781	21
104	COSM45739	TP53	skin,NS,carcinoma,basal cell carcinoma	c.677G>C	p.G226A	17:7674286-7674286	21
105	COSM10705	TP53	skin,face,carcinoma,NS	c.586C>T	p.R196*	17:7674945-7674945	21
106	COSM10701	TP53	skin,ear,carcinoma,NS	c.824G>T	p.C275F	17:7673796-7673796	21
107	COSM43544	TP53	skin,face,carcinoma,NS	c.260C>A	p.P87Q	17:7676109-7676109	21
108	COSM10650	TP53	skin,NS,carcinoma,basal cell carcinoma	c.529C>T	p.P177S	17:7675083-7675083	21
109	COSM44326	TP53	skin,face,carcinoma,NS	c.706T>C	p.Y236H	17:7674257-7674257	21
110	COSM43665	TP53	skin,NS,carcinoma,basal cell carcinoma	c.746G>C	p.R249T	17:7674217-7674217	21
111	COSM45774	TP53	skin,NS,carcinoma,basal cell carcinoma	c.899C>G	p.P300R	17:7673721-7673721	21
112	COSM10749	TP53	skin,NS,carcinoma,basal cell carcinoma	c.830G>T	p.C277F	17:7673790-7673790	21
113	COSM10660	TP53	skin,NS,carcinoma,basal cell carcinoma	c.818G>A	p.R273H	17:7673802-7673802	21
114	COSM10771	TP53	skin,NS,carcinoma,basal cell carcinoma	c.749C>T	p.P250L	17:7674214-7674214	21
115	COSM11152	TP53	skin,NS,carcinoma,basal cell carcinoma	c.700T>C	p.Y234H	17:7674263-7674263	21
116	COSM10768	TP53	skin,NS,carcinoma,basal cell carcinoma	c.535C>T	p.H179Y	17:7675077-7675077	21
117	COSM45834	TP53	skin,NS,carcinoma,basal cell carcinoma	c.409C>A	p.L137M	17:7675203-7675203	21
118	COSM10905	TP53	skin,NS,carcinoma,basal cell carcinoma	c.451C>T	p.P151S	17:7675161-7675161	21
119	COSM6932	TP53	skin,NS,carcinoma,basal cell carcinoma	c.733G>A	p.G245S	17:7674230-7674230	21
120	COSM10648	TP53	skin,NS,carcinoma,basal cell carcinoma	c.524G>A	p.R175H	17:7675088-7675088	21
121	COSM45424	TP53	skin,NS,carcinoma,basal cell carcinoma	c.781A>T	p.S261C	17:7674182-7674182	21
122	COSM10656	TP53	skin,face,carcinoma,NS	c.742C>T	p.R248W	17:7674221-7674221	21
123	COSM10659	TP53	skin,NS,carcinoma,basal cell carcinoma	c.817C>T	p.R273C	17:7673803-7673803	21
124	COSM10794	TP53	skin,NS,carcinoma,basal cell carcinoma	c.796G>A	p.G266R	17:7673824-7673824	21
125	COSM43582	TP53	skin,NS,carcinoma,basal cell carcinoma	c.454C>T	p.P152S	17:7675158-7675158	21
126	COSM6903965	TP53	skin,ear,carcinoma,NS	c.988C>T	p.L330F	17:7673540-7673540	21
127	COSM10704	TP53	skin,NS,carcinoma,basal cell carcinoma	c.844C>T	p.R282W	17:7673776-7673776	21
128	COSM45114	TP53	skin,ear,carcinoma,NS	c.702C>A	p.Y234*	17:7674261-7674261	21
129	COSM45830	TP53	skin,face,carcinoma,NS	c.766A>C	p.T256P	17:7674197-7674197	21
130	COSM6549	TP53	skin,NS,carcinoma,basal cell carcinoma	c.743G>T	p.R248L	17:7674220-7674220	21
131	COSM45304	TP53	skin,NS,carcinoma,basal cell carcinoma	c.375+1G>A	p.?	17:7675993-7675993	21
132	COSM10867	TP53	skin,NS,carcinoma,basal cell carcinoma	c.797G>A	p.G266E	17:7673823-7673823	21
133	COSM43714	TP53	skin,NS,carcinoma,basal cell carcinoma	c.836G>A	p.G279E	17:7673784-7673784	21
134	COSM44226	TP53	skin,NS,carcinoma,basal cell carcinoma	c.380C>T	p.S127F	17:7675232-7675232	21
135	COSM10995	TP53	skin,NS,carcinoma,basal cell carcinoma	c.580C>T	p.L194F	17:7674951-7674951	21
136	COSM45322	TP53	skin,NS,carcinoma,basal cell carcinoma	c.757A>G	p.T253A	17:7674206-7674206	21
137	COSM45444	TP53	skin,eye,carcinoma,NS	c.587G>T	p.R196L	17:7674944-7674944	21
138	COSM43592	TP53	skin,NS,carcinoma,basal cell carcinoma	c.395A>T	p.K132M	17:7675217-7675217	21
139	COSM10788	TP53	skin,ear,carcinoma,NS	c.764T>G	p.I255S	17:7674199-7674199	21
140	COSM43702	TP53	skin,NS,carcinoma,basal cell carcinoma	c.571C>T	p.P191S	17:7674960-7674960	21
141	COSM44398	TP53	skin,NS,carcinoma,basal cell carcinoma	c.682G>A	p.D228N	17:7674281-7674281	21
142	COSM43588	TP53	skin,face,carcinoma,NS	c.740A>C	p.N247T	17:7674223-7674223	21
143	COSM43663	TP53	skin,NS,carcinoma,basal cell carcinoma	c.826G>C	p.A276P	17:7673794-7673794	21
144	COSM44120	TP53	skin,NS,carcinoma,basal cell carcinoma	c.532C>T	p.H178Y	17:7675080-7675080	21
145	COSM11081	TP53	skin,face,carcinoma,NS	c.733G>T	p.G245C	17:7674230-7674230	21
146	COSM11073	TP53	skin,NS,carcinoma,basal cell carcinoma	c.1024C>T	p.R342*	17:7670685-7670685	21
147	COSM44603	TP53	skin,NS,carcinoma,basal cell carcinoma	c.835G>A	p.G279R	17:7673785-7673785	21
148	COSM45732	TP53	skin,NS,carcinoma,basal cell carcinoma	c.480G>C	p.M160I	17:7675132-7675132	21
149	COSM12296	TP53	skin,NS,carcinoma,basal cell carcinoma	c.292C>T	p.P98S	17:7676077-7676077	21
150	COSM10863	TP53	skin,NS,carcinoma,basal cell carcinoma	c.833C>T	p.P278L	17:7673787-7673787	21
151	COSM10733	TP53	skin,face,carcinoma,NS	c.574C>T	p.Q192*	17:7674957-7674957	21
152	COSM6937552	TP53	skin,eye,carcinoma,NS	c.859G>C	p.E287Q	17:7673761-7673761	21
153	COSM43651	TP53	skin,face,carcinoma,NS	c.763A>T	p.I255F	17:7674200-7674200	21
154	COSM43635	TP53	skin,NS,carcinoma,basal cell carcinoma	c.536A>T	p.H179L	17:7675076-7675076	21
155	COSM43837	TP53	skin,NS,carcinoma,basal cell carcinoma	c.843C>G	p.D281E	17:7673777-7673777	21
156	COSM45734	TP53	skin,NS,carcinoma,basal cell carcinoma	c.622G>T	p.D208Y	17:7674909-7674909	21
157	COSM44096	TP53	skin,NS,carcinoma,basal cell carcinoma	c.748C>G	p.P250A	17:7674215-7674215	21
158	COSM43616	TP53	skin,NS,carcinoma,basal cell carcinoma	c.704A>G	p.N235S	17:7674259-7674259	21
159	COSM44310	TP53	skin,NS,carcinoma,basal cell carcinoma	c.738G>A	p.M246I	17:7674225-7674225	21
160	COSM45751	TP53	skin,NS,carcinoma,basal cell carcinoma	c.511G>C	p.E171Q	17:7675101-7675101	21
161	COSM10724	TP53	skin,eye,carcinoma,NS	c.839G>C	p.R280T	17:7673781-7673781	21
162	COSM43778	TP53	skin,NS,carcinoma,basal cell carcinoma	c.713G>T	p.C238F	17:7674250-7674250	21
163	COSM44130	TP53	skin,NS,carcinoma,basal cell carcinoma	c.477C>T	p.A159A	17:7675135-7675135	21
164	COSM43695	TP53	skin,NS,carcinoma,basal cell carcinoma	c.748C>T	p.P250S	17:7674215-7674215	21
165	COSM43842	TP53	skin,NS,carcinoma,basal cell carcinoma	c.770T>C	p.L257P	17:7674193-7674193	21
166	COSM45169	TP53	skin,NS,carcinoma,basal cell carcinoma	c.326T>C	p.F109S	17:7676043-7676043	21
167	COSM11376	TP53	skin,NS,carcinoma,basal cell carcinoma	c.737T>G	p.M246R	17:7674226-7674226	21
168	COSM44606	TP53	skin,NS,carcinoma,basal cell carcinoma	c.665C>T	p.P222L	17:7674866-7674866	21
169	COSM45138	TP53	skin,NS,carcinoma,basal cell carcinoma	c.853G>C	p.E285Q	17:7673767-7673767	21
170	COSM45677	TP53	skin,face,carcinoma,NS	c.714T>A	p.C238*	17:7674249-7674249	21
171	COSM6927532	TGFBR1	skin,NS,carcinoma,basal cell carcinoma	c.1255G>A	p.G419R	9:99146609-99146609	21
172	COSM199708	TGFBR1	skin,NS,carcinoma,basal cell carcinoma	c.1459C>T	p.R487W	9:99149252-99149252	21
173	COSM607136	TGFBR1	skin,neck,carcinoma,NS	c.1247C>T	p.S416F	9:99146601-99146601	21
174	COSM166291	TET2	skin,NS,carcinoma,basal cell carcinoma	c.5681C>T	p.P1894L	4:105276191-105276191	21
175	COSM3472000	TENT5C	skin,NS,carcinoma,basal cell carcinoma	c.1001C>T	p.S334F	1:117623869-117623869	21
176	COSM6926867	TCF3	skin,NS,carcinoma,basal cell carcinoma	c.416C>T	p.S139F	19:1625659-1625659	21
177	COSM6912931	TBX3	skin,NS,carcinoma,basal cell carcinoma	c.45G>A	p.M15I	12:114683156-114683156	21
178	COSM4462891	STK40	skin,eye,carcinoma,NS	c.1265C>T	p.S422F	1:36341798-36341798	21
179	COSM4462893	STK40	skin,eye,carcinoma,NS	c.1265C>T	p.S422F	1:36341798-36341798	21
180	COSM51520	STK11	skin,NS,carcinoma,basal cell carcinoma	c.536C>T	p.P179L	19:1220444-1220444	21
181	COSM6926864	STAT5B	skin,NS,carcinoma,basal cell carcinoma	c.2347C>T	p.P783S	17:42201755-42201755	21
182	COSM1716826	STAT5B	skin,NS,carcinoma,basal cell carcinoma	c.1697G>A	p.R566Q	17:42210481-42210481	21
183	COSM1716827	STAT5B	skin,NS,carcinoma,basal cell carcinoma	c.2207C>T	p.P736L	17:42202370-42202370	21
184	COSM6936926	STAT5A	skin,NS,carcinoma,basal cell carcinoma	c.286-1G>A	p.?	17:42291971-42291971	21
185	COSM6936928	STAT3	skin,NS,carcinoma,basal cell carcinoma	c.1286C>T	p.S429F	17:42326195-42326195	21
186	COSM6926758	SPEN	skin,NS,carcinoma,basal cell carcinoma	c.8389C>T	p.P2797S	1:15934629-15934629	21
187	COSM6009093	SPEN	skin,eye,carcinoma,NS	c.9563C>T	p.P3188L	1:15935803-15935803	21
188	COSM6926757	SPEN	skin,NS,carcinoma,basal cell carcinoma	c.1294T>A	p.F432I	1:15916178-15916178	21
189	COSM6982915	SOX2	skin,eye,carcinoma,NS	c.237G>A	p.W79*	3:181712597-181712597	21
190	COSM3942015	SMO	skin,NS,carcinoma,basal cell carcinoma	c.961G>A	p.V321M	7:129206190-129206190	21
191	COSM13146	SMO	skin,NS,carcinoma,basal cell carcinoma	c.1604G>T	p.W535L	7:129210500-129210500	21
192	COSM5731073	SMO	skin,NS,carcinoma,basal cell carcinoma	c.842G>T	p.W281L	7:129205704-129205704	21
193	COSM6962965	SMO	skin,neck,carcinoma,NS	c.1103C>T	p.P368L	7:129206332-129206332	21
194	COSM4413609	SMO	skin,NS,carcinoma,basal cell carcinoma	c.1489G>T	p.G497W	7:129210385-129210385	21
195	COSM5775414	SMO	skin,NS,carcinoma,basal cell carcinoma	c.1222A>G	p.I408V	7:129206545-129206545	21
196	COSM6909694	SMO	skin,NS,carcinoma,basal cell carcinoma	c.998T>G	p.V333G	7:129206227-129206227	21
197	COSM13152	SMO	skin,NS,carcinoma,basal cell carcinoma	c.1685G>A	p.R562Q	7:129210997-129210997	21
198	COSM4413608	SMO	skin,NS,carcinoma,basal cell carcinoma	c.1417G>T	p.D473Y	7:129209348-129209348	21
199	COSM6951263	SMARCD1	skin,NS,carcinoma,basal cell carcinoma	c.422G>A	p.R141Q	12:50087370-50087370	21
200	COSM6912944	SMARCA4	skin,NS,carcinoma,basal cell carcinoma	c.512C>T	p.P171L	19:10986345-10986345	21
201	COSM6951276	SMARCA4	skin,NS,carcinoma,basal cell carcinoma	c.170C>T	p.P57L	19:10984321-10984321	21
202	COSM6912942	SMARCA4	skin,NS,carcinoma,basal cell carcinoma	c.463G>A	p.D155N	19:10986296-10986296	21
203	COSM303247	SMARCA4	skin,NS,carcinoma,basal cell carcinoma	c.3574C>T	p.R1192C	19:11033317-11033317	21
204	COSM1226711	SMAD2	skin,NS,carcinoma,basal cell carcinoma	c.1266G>A	p.W422*	18:47845354-47845354	21
205	COSM6912936	SMAD2	skin,NS,carcinoma,basal cell carcinoma	c.737C>T	p.P246L	18:47851321-47851321	21
206	COSM6926879	SH2D1A	skin,NS,carcinoma,basal cell carcinoma	c.192G>A	p.W64*	23:124365815-124365815	21
207	COSM6926865	RPTOR	skin,NS,carcinoma,basal cell carcinoma	c.115A>T	p.I39F	17:80545744-80545744	21
208	COSM6912934	RPTOR	skin,NS,carcinoma,basal cell carcinoma	c.1606G>C	p.A536P	17:80883440-80883440	21
209	COSM6933705	RPTOR	skin,ear,carcinoma,NS	c.8C>A	p.S3Y	17:80545637-80545637	21
210	COSM6951261	RPS6KB2	skin,NS,carcinoma,basal cell carcinoma	c.901A>T	p.K301*	11:67433442-67433442	21
211	COSM6926838	RPS6KA4	skin,NS,carcinoma,basal cell carcinoma	c.1031C>T	p.P344L	11:64365425-64365425	21
212	COSM5925307	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.5479C>T	p.Q1827*	6:117326302-117326302	21
213	COSM6926804	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.1337C>T	p.A446V	6:117389772-117389772	21
214	COSM6926802	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.4883G>A	p.G1628E	6:117341419-117341419	21
215	COSM229019	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.3103C>T	p.R1035*	6:117365075-117365075	21
216	COSM6936915	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.1262G>A	p.G421E	6:117393224-117393224	21
217	COSM5890218	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.5426G>A	p.G1809E	6:117326355-117326355	21
218	COSM6953786	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.4903-1G>A	p.?	6:117341312-117341312	21
219	COSM5538304	RNF43	skin,eye,carcinoma,NS	c.866C>T	p.S289F	17:58360235-58360235	21
220	COSM6912908	RICTOR	skin,NS,carcinoma,basal cell carcinoma	c.4666G>A	p.E1556K	5:38945036-38945036	21
221	COSM2849898	RHOA	skin,NS,carcinoma,basal cell carcinoma	c.50G>A	p.G17E	3:49375540-49375540	21
222	COSM1731707	RB1	skin,face,carcinoma,NS	c.1789C>T	p.Q597*	13:48453086-48453086	21
223	COSM6962990	RARA	skin,neck,carcinoma,NS	c.1384C>T	p.P462S	17:40356221-40356221	21
224	COSM5468163	RAD52	skin,eye,carcinoma,NS	c.779G>A	p.R260Q	12:916430-916430	21
225	COSM6962984	RAD52	skin,neck,carcinoma,NS	c.439G>A	p.V147M	12:927173-927173	21
226	COSM6962994	PTPRT	skin,neck,carcinoma,NS	c.1607C>T	p.S536L	20:42352239-42352239	21
227	COSM4493086	PTPRT	skin,NS,carcinoma,basal cell carcinoma	c.4108C>T	p.P1370S	20:42084776-42084776	21
228	COSM6962992	PTPRT	skin,neck,carcinoma,NS	c.1619G>A	p.G540E	20:42352227-42352227	21
229	COSM3546515	PTPRT	skin,NS,carcinoma,basal cell carcinoma	c.2083C>T	p.L695F	20:42315779-42315779	21
230	COSM5564171	PTPRT	skin,NS,carcinoma,basal cell carcinoma	c.3424C>T	p.R1142W	20:42106818-42106818	21
231	COSM6933707	PTPRS	skin,ear,carcinoma,NS	c.5600A>C	p.K1867T	19:5208279-5208279	21
232	COSM6912939	PTPRS	skin,NS,carcinoma,basal cell carcinoma	c.2839C>T	p.L947F	19:5222953-5222953	21
233	COSM4646623	PTPRS	skin,NS,carcinoma,basal cell carcinoma	c.2710C>T	p.R904W	19:5223082-5223082	21
234	COSM6953794	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.942A>G	p.I314M	9:8521296-8521296	21
235	COSM3395877	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.3925G>A	p.E1309K	9:8449788-8449788	21
236	COSM6962970	PTPRD	skin,neck,carcinoma,NS	c.1736G>A	p.S579N	9:8504347-8504347	21
237	COSM5610301	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.2023G>A	p.E675K	9:8500859-8500859	21
238	COSM6926820	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.5380G>A	p.D1794N	9:8331736-8331736	21
239	COSM456125	PTPRD	skin,neck,carcinoma,NS	c.5048C>T	p.S1683F	9:8341168-8341168	21
240	COSM6926826	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.1774G>A	p.G592S	9:8504309-8504309	21
241	COSM5610130	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.2131C>T	p.P711S	9:8499838-8499838	21
242	COSM1700914	PTPRD	skin,neck,carcinoma,NS	c.1261C>T	p.P421S	9:8518130-8518130	21
243	COSM6912921	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.2979A>C	p.K993N	9:8485838-8485838	21
244	COSM17475	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1292T>A	p.L431Q	9:95478110-95478110	21
245	COSM17490	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3584C>T	p.T1195I	9:95449289-95449289	21
246	COSM17596	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.863G>A	p.G288D	9:95480472-95480472	21
247	COSM29062	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2865C>A	p.Y955*	9:95459622-95459622	21
248	COSM96958	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1930C>T	p.P644S	9:95469071-95469071	21
249	COSM26356	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.834G>A	p.W278*	9:95480501-95480501	21
250	COSM26373	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3499G>A	p.G1167R	9:95449891-95449891	21
251	COSM6912923	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3758A>T	p.Q1253L	9:95449115-95449115	21
252	COSM29349	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2066C>T	p.P689L	9:95468935-95468935	21
253	COSM17474	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2062C>T	p.Q688*	9:95468939-95468939	21
254	COSM17489	PTCH1	skin,face,carcinoma,NS	c.3724G>A	p.E1242K	9:95449149-95449149	21
255	COSM14456	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2778G>A	p.W926*	9:95459709-95459709	21
256	COSM29057	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2713C>T	p.Q905*	9:95459774-95459774	21
257	COSM26368	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3046C>T	p.L1016F	9:95458135-95458135	21
258	COSM17592	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3605C>T	p.P1202L	9:95449268-95449268	21
259	COSM17467	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1726C>T	p.Q576*	9:95476036-95476036	21
260	COSM17454	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3340A>T	p.R1114W	9:95453587-95453587	21
261	COSM5939959	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.654+1G>A	p.?	9:95482133-95482133	21
262	COSM17481	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.709G>A	p.E237K	9:95481986-95481986	21
263	COSM26361	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.4187G>A	p.G1396E	9:95447069-95447069	21
264	COSM1651689	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.250C>T	p.Q84*	9:95506551-95506551	21
265	COSM26357	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3153G>A	p.W1051*	9:95458028-95458028	21
266	COSM14440	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1093C>T	p.Q365*	9:95479122-95479122	21
267	COSM17594	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2287G>A	p.V763I	9:95467389-95467389	21
268	COSM96936	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2885G>C	p.R962T	9:95459602-95459602	21
269	COSM26378	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1848-1G>A	p.?	9:95469154-95469154	21
270	COSM17472	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1249C>T	p.Q417*	9:95478153-95478153	21
271	COSM17434	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.523C>T	p.L175F	9:95485746-95485746	21
272	COSM26381	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3306+1G>A	p.?	9:95456275-95456275	21
273	COSM26364	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1481C>T	p.S494F	9:95477569-95477569	21
274	COSM96966	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2561-1G>A	p.?	9:95461999-95461999	21
275	COSM17608	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1161G>A	p.W387*	9:95479054-95479054	21
276	COSM96957	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.713G>A	p.G238E	9:95481982-95481982	21
277	COSM14455	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3590C>T	p.S1197F	9:95449283-95449283	21
278	COSM17597	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1977G>A	p.Q659Q	9:95469024-95469024	21
279	COSM29068	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1603-1G>A	p.?	9:95476160-95476160	21
280	COSM6926831	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.584+1G>A	p.?	9:95485684-95485684	21
281	COSM24852	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1615G>T	p.E539*	9:95476147-95476147	21
282	COSM1651688	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.451G>A	p.A151T	9:95485818-95485818	21
283	COSM17476	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.707G>A	p.W236*	9:95481988-95481988	21
284	COSM17456	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1160G>A	p.W387*	9:95479055-95479055	21
285	COSM17455	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.666T>A	p.Y222*	9:95482029-95482029	21
286	COSM29052	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.724C>T	p.Q242*	9:95481971-95481971	21
287	COSM96964	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2588G>A	p.W863*	9:95461971-95461971	21
288	COSM6951255	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.785T>A	p.L262*	9:95480550-95480550	21
289	COSM17480	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1847G>A	p.S616N	9:95469813-95469813	21
290	COSM26365	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.475A>T	p.I159L	9:95485794-95485794	21
291	COSM96960	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3592C>T	p.P1198S	9:95449281-95449281	21
292	COSM17602	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1922C>T	p.P641L	9:95469079-95469079	21
293	COSM1651750	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3169-2A>G	p.?	9:95456415-95456415	21
294	COSM17453	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3196G>T	p.E1066*	9:95456386-95456386	21
295	COSM26370	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.286A>T	p.K96*	9:95506515-95506515	21
296	COSM29054	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.387G>A	p.W129*	9:95506414-95506414	21
297	COSM1651687	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2557C>T	p.Q853*	9:95467119-95467119	21
298	COSM26369	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1439C>G	p.S480*	9:95477611-95477611	21
299	COSM96965	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2812C>T	p.Q938*	9:95459675-95459675	21
300	COSM5989692	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.4048C>T	p.R1350W	9:95447208-95447208	21
301	COSM1651749	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3450-1G>A	p.?	9:95449941-95449941	21
302	COSM26372	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2372T>C	p.I791T	9:95467304-95467304	21
303	COSM29348	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1450G>A	p.G484R	9:95477600-95477600	21
304	COSM96963	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1703C>T	p.P568L	9:95476059-95476059	21
305	COSM17459	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2042C>T	p.P681L	9:95468959-95468959	21
306	COSM17477	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3487G>A	p.G1163S	9:95449903-95449903	21
307	COSM29051	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.478C>T	p.Q160*	9:95485791-95485791	21
308	COSM14460	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2364T>A	p.Y788*	9:95467312-95467312	21
309	COSM17551	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1396C>T	p.Q466*	9:95477654-95477654	21
310	COSM26367	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.445G>T	p.E149*	9:95485824-95485824	21
311	COSM96959	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2048C>T	p.S683F	9:95468953-95468953	21
312	COSM17548	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3499G>T	p.G1167W	9:95449891-95449891	21
313	COSM24853	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1688C>T	p.A563V	9:95476074-95476074	21
314	COSM17521	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1993C>G	p.R665G	9:95469008-95469008	21
315	COSM6172265	PRDM1	skin,NS,carcinoma,basal cell carcinoma	c.271C>T	p.P91S	6:106095702-106095702	21
316	COSM221754	PPP6C	skin,eye,carcinoma,NS	c.790C>T	p.R264C	9:125149801-125149801	21
317	COSM6951271	PPM1D	skin,NS,carcinoma,basal cell carcinoma	c.674G>A	p.R225K	17:60623722-60623722	21
318	COSM6926852	POLE	skin,NS,carcinoma,basal cell carcinoma	c.4367C>T	p.S1456L	12:132643484-132643484	21
319	COSM6926874	POLD1	skin,NS,carcinoma,basal cell carcinoma	c.2096C>T	p.S699F	19:50409608-50409608	21
320	COSM40483	POLD1	skin,NS,carcinoma,basal cell carcinoma	c.2734C>T	p.P912S	19:50415740-50415740	21
321	COSM4543732	PLCG2	skin,NS,carcinoma,basal cell carcinoma	c.3430G>A	p.D1144N	16:81940008-81940008	21
322	COSM6951268	PLCG2	skin,NS,carcinoma,basal cell carcinoma	c.67G>A	p.E23K	16:81786056-81786056	21
323	COSM6962989	PLCG2	skin,neck,carcinoma,NS	c.115G>T	p.E39*	16:81786104-81786104	21
324	COSM6971613	PIK3R1	skin,eye,carcinoma,NS	c.608A>G	p.Y203C	5:68279707-68279707	21
325	COSM6953790	PIK3CG	skin,NS,carcinoma,basal cell carcinoma	c.785C>T	p.P262L	7:106868346-106868346	21
326	COSM6912915	PIK3CG	skin,NS,carcinoma,basal cell carcinoma	c.1024C>T	p.H342Y	7:106868585-106868585	21
327	COSM6962963	PIK3CG	skin,neck,carcinoma,NS	c.310G>A	p.G104R	7:106867871-106867871	21
328	COSM6926809	PIK3CG	skin,NS,carcinoma,basal cell carcinoma	c.202G>A	p.E68K	7:106867763-106867763	21
329	COSM6962964	PIK3CG	skin,neck,carcinoma,NS	c.3227G>A	p.R1076K	7:106905305-106905305	21
330	COSM6953791	PIK3CG	skin,NS,carcinoma,basal cell carcinoma	c.3172G>A	p.G1058R	7:106905250-106905250	21
331	COSM6056498	PIK3CD	skin,NS,carcinoma,basal cell carcinoma	c.1495G>A	p.E499K	1:9720635-9720635	21
332	COSM6926779	PIK3CB	skin,NS,carcinoma,basal cell carcinoma	c.934C>T	p.P312S	3:138734672-138734672	21
333	COSM748	PIK3CA	skin,NS,carcinoma,basal cell carcinoma	c.317G>T	p.G106V	3:179199142-179199142	21
334	COSM6926866	PIK3C3	skin,NS,carcinoma,basal cell carcinoma	c.313C>T	p.Q105*	18:41962544-41962544	21
335	COSM6912935	PIK3C3	skin,NS,carcinoma,basal cell carcinoma	c.1216G>A	p.E406K	18:42013487-42013487	21
336	COSM6926780	PHOX2B	skin,NS,carcinoma,basal cell carcinoma	c.890C>T	p.S297L	4:41745862-41745862	21
337	COSM3212050	PDGFRB	skin,NS,carcinoma,basal cell carcinoma	c.3001C>T	p.P1001S	5:150117754-150117754	21
338	COSM6927530	PDGFRB	skin,NS,carcinoma,basal cell carcinoma	c.2890G>A	p.E964K	5:150118761-150118761	21
339	COSM6912912	PDGFRB	skin,NS,carcinoma,basal cell carcinoma	c.2596C>T	p.P866S	5:150120114-150120114	21
340	COSM6936906	PARP1	skin,NS,carcinoma,basal cell carcinoma	c.232C>T	p.R78W	1:226402268-226402268	21
341	COSM6937135	NTRK2	skin,NS,carcinoma,basal cell carcinoma	c.1588C>T	p.P530S	9:84867386-84867386	21
342	COSM585	NRAS	skin,face,carcinoma,NS	c.183A>T	p.Q61H	1:114713907-114713907	21
343	COSM564	NRAS	skin,NS,carcinoma,basal cell carcinoma	c.35G>A	p.G12D	1:114716126-114716126	21
344	COSM6903909	NRAS	skin,face,carcinoma,NS	c.443C>T	p.T148I	1:114709576-114709576	21
345	COSM574	NRAS	skin,face,carcinoma,NS	c.38G>T	p.G13V	1:114716123-114716123	21
346	COSM6921920	NPM1	skin,NS,carcinoma,basal cell carcinoma	c.584C>T	p.S195F	5:171400840-171400840	21
347	COSM5609653	NOTCH3	skin,NS,carcinoma,basal cell carcinoma	c.2224C>T	p.P742S	19:15185329-15185329	21
348	COSM6936931	NOTCH3	skin,NS,carcinoma,basal cell carcinoma	c.6196C>T	p.P2066S	19:15161432-15161432	21
349	COSM1667036	NOTCH2	skin,face,carcinoma,NS	c.337C>T	p.R113*	1:120005407-120005407	21
350	COSM6903985	NOTCH2	skin,face,carcinoma,NS	c.5524T>C	p.S1842P	1:119919569-119919569	21
351	COSM6903873	NOTCH2	skin,face,carcinoma,NS	c.5141G>A	p.G1714D	1:119922308-119922308	21
352	COSM6903860	NOTCH2	skin,face,carcinoma,NS	c.4418G>T	p.W1473L	1:119925398-119925398	21
353	COSM6903872	NOTCH2	skin,face,carcinoma,NS	c.5140G>A	p.G1714S	1:119922309-119922309	21
354	COSM6903828	NOTCH2	skin,ear,carcinoma,NS	c.1378T>C	p.C460R	1:119967508-119967508	21
355	COSM6903875	NOTCH2	skin,face,carcinoma,NS	c.5266G>A	p.E1756K	1:119921757-119921757	21
356	COSM6903891	NOTCH2	skin,face,carcinoma,NS	c.5942T>C	p.L1981P	1:119917750-119917750	21
357	COSM6903836	NOTCH2	skin,face,carcinoma,NS	c.2314T>C	p.C772R	1:119953594-119953594	21
358	COSM6903889	NOTCH2	skin,NS,carcinoma,basal cell carcinoma	c.5930-1G>C	p.?	1:119917763-119917763	21
359	COSM6903876	NOTCH2	skin,face,carcinoma,NS	c.5449G>A	p.D1817N	1:119920259-119920259	21
360	COSM6903853	NOTCH2	skin,ear,carcinoma,NS	c.3578A>G	p.N1193S	1:119935549-119935549	21
361	COSM6903835	NOTCH2	skin,face,carcinoma,NS	c.2234G>A	p.C745Y	1:119953674-119953674	21
362	COSM6903838	NOTCH2	skin,face,carcinoma,NS	c.2414T>C	p.L805P	1:119950789-119950789	21
363	COSM6903848	NOTCH2	skin,ear,carcinoma,NS	c.3304A>G	p.N1102D	1:119937890-119937890	21
364	COSM3862408	NOTCH2	skin,ear,carcinoma,NS	c.2504C>T	p.A835V	1:119949102-119949102	21
365	COSM6903841	NOTCH2	skin,face,carcinoma,NS	c.2602C>G	p.Q868E	1:119948564-119948564	21
366	COSM6903870	NOTCH2	skin,face,carcinoma,NS	c.5006A>G	p.E1669G	1:119922443-119922443	21
367	COSM6903855	NOTCH2	skin,ear,carcinoma,NS	c.3697C>T	p.P1233S	1:119929171-119929171	21
368	COSM1667039	NOTCH2	skin,ear,carcinoma,NS	c.2839C>T	p.Q947*	1:119941668-119941668	21
369	COSM6971611	NOTCH2	skin,eye,carcinoma,NS	c.4091C>T	p.P1364L	1:119925725-119925725	21
370	COSM6903823	NOTCH2	skin,face,carcinoma,NS	c.1060A>G	p.I354V	1:119969559-119969559	21
371	COSM6903877	NOTCH2	skin,face,carcinoma,NS	c.5468T>C	p.V1823A	1:119920240-119920240	21
372	COSM6912888	NOTCH2	skin,NS,carcinoma,basal cell carcinoma	c.1109G>A	p.G370D	1:119968232-119968232	21
373	COSM6903852	NOTCH2	skin,ear,carcinoma,NS	c.3511T>C	p.Y1171H	1:119937293-119937293	21
374	COSM6903986	NOTCH2	skin,face,carcinoma,NS	c.5524T>A	p.S1842T	1:119919569-119919569	21
375	COSM6903867	NOTCH2	skin,ear,carcinoma,NS	c.4708G>A	p.G1570S	1:119923788-119923788	21
376	COSM5888593	NOTCH2	skin,NS,carcinoma,basal cell carcinoma	c.2636C>T	p.S879F	1:119948530-119948530	21
377	COSM6903905	NOTCH2	skin,face,carcinoma,NS	c.7097C>T	p.A2366V	1:119915625-119915625	21
378	COSM6903894	NOTCH2	skin,ear,carcinoma,NS	c.6607A>G	p.N2203D	1:119916115-119916115	21
379	COSM6903880	NOTCH2	skin,ear,carcinoma,NS	c.5560T>C	p.S1854P	1:119919533-119919533	21
380	COSM6903887	NOTCH2	skin,face,carcinoma,NS	c.5836A>G	p.T1946A	1:119918499-119918499	21
381	COSM6903904	NOTCH2	skin,face,carcinoma,NS	c.7085A>G	p.D2362G	1:119915637-119915637	21
382	COSM6903844	NOTCH2	skin,face,carcinoma,NS	c.2987G>A	p.C996Y	1:119940751-119940751	21
383	COSM6926759	NOTCH2	skin,NS,carcinoma,basal cell carcinoma	c.2027-1G>A	p.?	1:119955233-119955233	21
384	COSM6903633	NOTCH1	skin,face,carcinoma,NS	c.3394C>T	p.R1132C	9:136508071-136508071	21
385	COSM6926835	NOTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3571C>T	p.P1191S	9:136507377-136507377	21
386	COSM6903601	NOTCH1	skin,face,carcinoma,NS	c.2609T>C	p.I870T	9:136510784-136510784	21
387	COSM6903681	NOTCH1	skin,face,carcinoma,NS	c.4211A>G	p.E1404G	9:136505685-136505685	21
388	COSM6903579	NOTCH1	skin,face,carcinoma,NS	c.1714C>A	p.P572T	9:136515672-136515672	21
389	COSM6903675	NOTCH1	skin,ear,carcinoma,NS	c.4169C>T	p.P1390L	9:136505727-136505727	21
390	COSM6903739	NOTCH1	skin,face,carcinoma,NS	c.5065T>C	p.S1689P	9:136503284-136503284	21
391	COSM4855290	NOTCH1	skin,face,carcinoma,NS	c.1400G>A	p.C467Y	9:136517793-136517793	21
392	COSM327180	NOTCH1	skin,face,carcinoma,NS	c.5554G>A	p.D1852N	9:136501832-136501832	21
393	COSM6903557	NOTCH1	skin,ear,carcinoma,NS	c.1289T>A	p.I430N	9:136517904-136517904	21
394	COSM4520346	NOTCH1	skin,face,carcinoma,NS	c.1054G>A	p.D352N	9:136518636-136518636	21
395	COSM6903621	NOTCH1	skin,face,carcinoma,NS	c.3154A>C	p.T1052P	9:136508887-136508887	21
396	COSM3215909	NOTCH1	skin,face,carcinoma,NS	c.5879T>C	p.M1960T	9:136500607-136500607	21
397	COSM6903735	NOTCH1	skin,face,carcinoma,NS	c.5045A>T	p.N1682I	9:136503304-136503304	21
398	COSM6951259	NOTCH1	skin,NS,carcinoma,basal cell carcinoma	c.689G>A	p.G230E	9:136522903-136522903	21
399	COSM6903569	NOTCH1	skin,face,carcinoma,NS	c.1486A>G	p.S496G	9:136517341-136517341	21
400	COSM6903667	NOTCH1	skin,face,carcinoma,NS	c.4132T>C	p.F1378L	9:136505764-136505764	21
401	COSM6903517	NOTCH1	skin,face,carcinoma,NS	c.199C>T	p.P67S	9:136523921-136523921	21
402	COSM6903519	NOTCH1	skin,face,carcinoma,NS	c.200C>T	p.P67L	9:136523920-136523920	21
403	COSM6903513	NOTCH1	skin,face,carcinoma,NS	c.108G>T	p.K36N	9:136544056-136544056	21
404	COSM6903703	NOTCH1	skin,face,carcinoma,NS	c.4417G>T	p.G1473C	9:136505479-136505479	21
405	COSM6903511	NOTCH1	skin,face,carcinoma,NS	c.65C>G	p.P22R	9:136544099-136544099	21
406	COSM139812	NOTCH1	skin,face,carcinoma,NS	c.2468-1G>A	p.?	9:136511272-136511272	21
407	COSM6903515	NOTCH1	skin,face,carcinoma,NS	c.113A>G	p.E38G	9:136544051-136544051	21
408	COSM6903581	NOTCH1	skin,face,carcinoma,NS	c.1847G>A	p.G616D	9:136515539-136515539	21
409	COSM6903637	NOTCH1	skin,face,carcinoma,NS	c.3556G>A	p.E1186K	9:136507392-136507392	21
410	COSM6903750	NOTCH1	skin,ear,carcinoma,NS	c.5431A>T	p.N1811Y	9:136502042-136502042	21
411	COSM6903721	NOTCH1	skin,face,carcinoma,NS	c.4546T>G	p.F1516V	9:136505350-136505350	21
412	COSM6903689	NOTCH1	skin,face,carcinoma,NS	c.4309G>A	p.G1437R	9:136505587-136505587	21
413	COSM5609565	NOTCH1	skin,face,carcinoma,NS	c.751G>A	p.G251S	9:136519557-136519557	21
414	COSM6903705	NOTCH1	skin,face,carcinoma,NS	c.4417G>A	p.G1473S	9:136505479-136505479	21
415	COSM6903788	NOTCH1	skin,face,carcinoma,NS	c.7022C>T	p.S2341F	9:136496717-136496717	21
416	COSM6953803	NOTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1339C>T	p.P447S	9:136517854-136517854	21
417	COSM6903599	NOTCH1	skin,face,carcinoma,NS	c.2578G>A	p.G860S	9:136511161-136511161	21
418	COSM6903587	NOTCH1	skin,face,carcinoma,NS	c.1903G>A	p.G635R	9:136515483-136515483	21
419	COSM99651	NOTCH1	skin,face,carcinoma,NS	c.1093C>T	p.R365C	9:136518597-136518597	21
420	COSM6903605	NOTCH1	skin,face,carcinoma,NS	c.2712C>G	p.C904W	9:136510681-136510681	21
421	COSM5884808	NOTCH1	skin,face,carcinoma,NS	c.4156C>A	p.P1386T	9:136505740-136505740	21
422	COSM6903619	NOTCH1	skin,face,carcinoma,NS	c.3055C>T	p.Q1019*	9:136508986-136508986	21
423	COSM6903695	NOTCH1	skin,face,carcinoma,NS	c.4355C>T	p.P1452L	9:136505541-136505541	21
424	COSM6903709	NOTCH1	skin,face,carcinoma,NS	c.4424A>C	p.D1475A	9:136505472-136505472	21
425	COSM6903741	NOTCH1	skin,face,carcinoma,NS	c.5141T>C	p.I1714T	9:136503208-136503208	21
426	COSM6903535	NOTCH1	skin,face,carcinoma,NS	c.968G>T	p.C323F	9:136518722-136518722	21
427	COSM6903611	NOTCH1	skin,face,carcinoma,NS	c.2791T>C	p.C931R	9:136509911-136509911	21
428	COSM6903629	NOTCH1	skin,face,carcinoma,NS	c.3289C>T	p.P1097S	9:136508268-136508268	21
429	COSM6903661	NOTCH1	skin,face,carcinoma,NS	c.4088G>A	p.C1363Y	9:136505808-136505808	21
430	COSM6903797	NOTCH1	skin,face,carcinoma,NS	c.7503G>C	p.Q2501H	9:136496236-136496236	21
431	COSM6903795	NOTCH1	skin,face,carcinoma,NS	c.7405C>A	p.P2469T	9:136496334-136496334	21
432	COSM6903764	NOTCH1	skin,face,carcinoma,NS	c.5932C>T	p.Q1978*	9:136500554-136500554	21
433	COSM6903531	NOTCH1	skin,ear,carcinoma,NS	c.866-2A>C	p.?	9:136518826-136518826	21
434	COSM2936617	NF2	skin,NS,carcinoma,basal cell carcinoma	c.404C>T	p.P135L	22:29642242-29642242	21
435	COSM21991	NF2	skin,NS,carcinoma,basal cell carcinoma	c.169C>T	p.R57*	22:29636805-29636805	21
436	COSM6951270	NF1	skin,NS,carcinoma,basal cell carcinoma	c.6099T>A	p.D2033E	17:31336425-31336425	21
437	COSM220104	NF1	skin,NS,carcinoma,basal cell carcinoma	c.4108C>T	p.Q1370*	17:31249117-31249117	21
438	COSM6936905	NEGR1	skin,NS,carcinoma,basal cell carcinoma	c.713G>A	p.G238E	1:71611101-71611101	21
439	COSM4559546	NEGR1	skin,NS,carcinoma,basal cell carcinoma	c.809G>A	p.G270E	1:71592948-71592948	21
440	COSM6951277	NCOA3	skin,NS,carcinoma,basal cell carcinoma	c.893G>A	p.R298Q	20:47633565-47633565	21
441	COSM6962996	NCOA3	skin,neck,carcinoma,NS	c.979C>T	p.H327Y	20:47634062-47634062	21
442	COSM6926876	NCOA3	skin,NS,carcinoma,basal cell carcinoma	c.47G>A	p.R16Q	20:47622294-47622294	21
443	COSM6953823	NCOA3	skin,NS,carcinoma,basal cell carcinoma	c.2302C>T	p.Q768*	20:47636688-47636688	21
444	COSM35624	MYCN	skin,NS,carcinoma,basal cell carcinoma	c.131C>T	p.P44L	2:15942195-15942195	21
445	COSM6926817	MYC	skin,NS,carcinoma,basal cell carcinoma	c.1127C>T	p.A376V	8:127740765-127740765	21
446	COSM6926756	MTOR	skin,NS,carcinoma,basal cell carcinoma	c.4229C>T	p.P1410L	1:11199282-11199282	21
447	COSM6912886	MTOR	skin,NS,carcinoma,basal cell carcinoma	c.3418G>C	p.D1140H	1:11212455-11212455	21
448	COSM4170532	MTOR	skin,neck,carcinoma,NS	c.3409G>A	p.E1137K	1:11212464-11212464	21
449	COSM6951240	MTOR	skin,NS,carcinoma,basal cell carcinoma	c.2020T>A	p.C674S	1:11238031-11238031	21
450	COSM261995	MGA	skin,NS,carcinoma,basal cell carcinoma	c.3724C>T	p.R1242*	15:41729230-41729230	21
451	COSM6926854	MGA	skin,NS,carcinoma,basal cell carcinoma	c.7537C>T	p.L2513F	15:41760521-41760521	21
452	COSM6953828	MED12	skin,NS,carcinoma,basal cell carcinoma	c.2158G>A	p.G720R	23:71125078-71125078	21
453	COSM6951285	MED12	skin,NS,carcinoma,basal cell carcinoma	c.3896C>T	p.S1299F	23:71130063-71130063	21
454	COSM6912956	MED12	skin,NS,carcinoma,basal cell carcinoma	c.5658G>A	p.M1886I	23:71137293-71137293	21
455	COSM6926847	MDM2	skin,NS,carcinoma,basal cell carcinoma	c.1276C>T	p.Q426*	12:68839631-68839631	21
456	COSM6926859	MAPK3	skin,NS,carcinoma,basal cell carcinoma	c.796C>T	p.Q266*	16:30117265-30117265	21
457	COSM516	KRAS	skin,NS,carcinoma,basal cell carcinoma	c.34G>T	p.G12C	12:25245351-25245351	21
458	COSM521	KRAS	skin,face,carcinoma,NS	c.35G>A	p.G12D	12:25245350-25245350	21
459	COSM6903505	KRAS	skin,face,carcinoma,NS	c.229G>A	p.G77S	12:25227295-25227295	21
460	COSM6926841	KRAS	skin,NS,carcinoma,basal cell carcinoma	c.122G>A	p.R41K	12:25227402-25227402	21
461	COSM6903500	KRAS	skin,ear,carcinoma,NS	c.5C>T	p.T2I	12:25245380-25245380	21
462	COSM553	KRAS	skin,NS,carcinoma,basal cell carcinoma	c.182A>T	p.Q61L	12:25227342-25227342	21
463	COSM6926846	KMT2D	skin,NS,carcinoma,basal cell carcinoma	c.3223C>T	p.P1075S	12:49048748-49048748	21
464	COSM6909696	KMT2D	skin,NS,carcinoma,basal cell carcinoma	c.14302G>T	p.E4768*	12:49026854-49026854	21
465	COSM6907251	KMT2D	skin,NS,carcinoma,basal cell carcinoma	c.15706G>A	p.E5236K	12:49022048-49022048	21
466	COSM220680	KMT2D	skin,NS,carcinoma,basal cell carcinoma	c.12796C>T	p.R4266*	12:49030958-49030958	21
467	COSM6926844	KMT2D	skin,NS,carcinoma,basal cell carcinoma	c.6893C>T	p.P2298L	12:49040067-49040067	21
468	COSM6936919	KMT2D	skin,NS,carcinoma,basal cell carcinoma	c.10537C>T	p.Q3513*	12:49033358-49033358	21
469	COSM6926813	KMT2C	skin,NS,carcinoma,basal cell carcinoma	c.6350C>T	p.S2117F	7:152181510-152181510	21
470	COSM1087613	KMT2C	skin,NS,carcinoma,basal cell carcinoma	c.3899G>A	p.R1300K	7:152205168-152205168	21
471	COSM6926811	KMT2C	skin,NS,carcinoma,basal cell carcinoma	c.6935C>T	p.S2312F	7:152180925-152180925	21
472	COSM6912917	KMT2C	skin,NS,carcinoma,basal cell carcinoma	c.14138C>T	p.P4713L	7:152145189-152145189	21
473	COSM6912919	KMT2C	skin,NS,carcinoma,basal cell carcinoma	c.12305C>T	p.S4102F	7:152152926-152152926	21
474	COSM6962967	KMT2C	skin,neck,carcinoma,NS	c.11659C>T	p.H3887Y	7:152158874-152158874	21
475	COSM6962983	KMT2A	skin,neck,carcinoma,NS	c.4377T>G	p.C1459W	11:118488658-118488658	21
476	COSM6926781	KIT	skin,NS,carcinoma,basal cell carcinoma	c.2597G>A	p.G866E	4:54736721-54736721	21
477	COSM75106	KDR	skin,NS,carcinoma,basal cell carcinoma	c.538G>A	p.D180N	4:55114994-55114994	21
478	COSM6953780	KDR	skin,NS,carcinoma,basal cell carcinoma	c.383C>T	p.S128F	4:55115387-55115387	21
479	COSM6926782	KDR	skin,NS,carcinoma,basal cell carcinoma	c.367T>G	p.S123A	4:55115403-55115403	21
480	COSM6951279	KDM6A	skin,NS,carcinoma,basal cell carcinoma	c.748+2T>G	p.?	23:45051804-45051804	21
481	COSM6072631	KDM5A	skin,eye,carcinoma,NS	c.973C>T	p.P325S	12:354132-354132	21
482	COSM6912930	KDM5A	skin,NS,carcinoma,basal cell carcinoma	c.1912G>A	p.E638K	12:328891-328891	21
483	COSM6926870	JAK3	skin,NS,carcinoma,basal cell carcinoma	c.1448C>T	p.S483F	19:17838384-17838384	21
484	COSM3099047	JAK3	skin,NS,carcinoma,basal cell carcinoma	c.59C>T	p.S20F	19:17844359-17844359	21
485	COSM6936904	JAK1	skin,NS,carcinoma,basal cell carcinoma	c.160G>A	p.E54K	1:64883322-64883322	21
486	COSM6953818	INSR	skin,NS,carcinoma,basal cell carcinoma	c.4036G>A	p.G1346R	19:7117169-7117169	21
487	COSM6936929	INSR	skin,NS,carcinoma,basal cell carcinoma	c.4012G>T	p.E1338*	19:7117193-7117193	21
488	COSM6912902	INPP4B	skin,NS,carcinoma,basal cell carcinoma	c.1084G>A	p.D362N	4:142193184-142193184	21
489	COSM137413	INPP4B	skin,NS,carcinoma,basal cell carcinoma	c.407C>T	p.P136L	4:142314728-142314728	21
490	COSM6926785	INPP4B	skin,NS,carcinoma,basal cell carcinoma	c.1462C>G	p.P488A	4:142160459-142160459	21
491	COSM6982913	INPP4A	skin,eye,carcinoma,NS	c.407G>A	p.G136E	2:98536148-98536148	21
492	COSM6912894	INPP4A	skin,NS,carcinoma,basal cell carcinoma	c.764C>T	p.S255F	2:98539621-98539621	21
493	COSM6982909	IKBKE	skin,eye,carcinoma,NS	c.537C>A	p.Y179*	1:206476359-206476359	21
494	COSM6912896	IDH1	skin,NS,carcinoma,basal cell carcinoma	c.679T>G	p.F227V	2:208243446-208243446	21
495	COSM6926764	IDH1	skin,NS,carcinoma,basal cell carcinoma	c.1013G>A	p.R338K	2:208239212-208239212	21
496	COSM6903477	HRAS	skin,ear,carcinoma,NS	c.47A>G	p.K16R	11:534276-534276	21
497	COSM483	HRAS	skin,NS,carcinoma,basal cell carcinoma	c.35G>T	p.G12V	11:534288-534288	21
498	COSM498	HRAS	skin,face,carcinoma,NS	c.182A>T	p.Q61L	11:533874-533874	21
499	COSM490	HRAS	skin,NS,carcinoma,basal cell carcinoma	c.38G>A	p.G13D	11:534285-534285	21
500	COSM6903493	HRAS	skin,face,carcinoma,NS	c.409T>G	p.Y137D	11:533494-533494	21
501	COSM6903487	HRAS	skin,face,carcinoma,NS	c.205G>C	p.D69H	11:533851-533851	21
502	COSM486	HRAS	skin,NS,carcinoma,basal cell carcinoma	c.37G>C	p.G13R	11:534286-534286	21
503	COSM6926849	HNF1A	skin,NS,carcinoma,basal cell carcinoma	c.1207C>T	p.L403F	12:120996640-120996640	21
504	COSM6438927	HGF	skin,neck,carcinoma,NS	c.974C>T	p.P325L	7:81729671-81729671	21
505	COSM6926808	HGF	skin,NS,carcinoma,basal cell carcinoma	c.1492G>A	p.G498R	7:81710196-81710196	21
506	COSM6926797	H3C2	skin,NS,carcinoma,basal cell carcinoma	c.205C>T	p.Q69*	6:26031856-26031856	21
507	COSM5385593	GRIN2A	skin,NS,carcinoma,basal cell carcinoma	c.4117G>A	p.D1373N	16:9763427-9763427	21
508	COSM6936921	GREM1	skin,NS,carcinoma,basal cell carcinoma	c.22G>A	p.V8M	15:32730712-32730712	21
509	COSM6669552	GATA3	skin,NS,carcinoma,basal cell carcinoma	c.668C>T	p.P223L	10:8058731-8058731	21
510	COSM6933702	GATA2	skin,ear,carcinoma,NS	c.1338C>G	p.F446L	3:128481124-128481124	21
511	COSM3597304	FOXP1	skin,NS,carcinoma,basal cell carcinoma	c.1876C>T	p.P626S	3:70965903-70965903	21
512	COSM6936909	FOXP1	skin,NS,carcinoma,basal cell carcinoma	c.1527G>A	p.W509*	3:70976944-70976944	21
513	COSM6926768	FOXP1	skin,NS,carcinoma,basal cell carcinoma	c.1138C>T	p.P380S	3:70988002-70988002	21
514	COSM6951248	FOXP1	skin,NS,carcinoma,basal cell carcinoma	c.1196C>T	p.S399F	3:70977980-70977980	21
515	COSM6953806	FOXO1	skin,NS,carcinoma,basal cell carcinoma	c.832C>T	p.Q278*	13:40560659-40560659	21
516	COSM6936920	FLT3	skin,NS,carcinoma,basal cell carcinoma	c.2431G>A	p.D811N	13:28018577-28018577	21
517	COSM5542939	FLT1	skin,NS,carcinoma,basal cell carcinoma	c.80C>T	p.S27L	13:28467602-28467602	21
518	COSM6951264	FLT1	skin,NS,carcinoma,basal cell carcinoma	c.3364C>T	p.P1122S	13:28317520-28317520	21
519	COSM6962960	FGFR3	skin,neck,carcinoma,NS	c.2421A>G	p.*807W	4:1807262-1807262	21
520	COSM6962980	FGFR2	skin,neck,carcinoma,NS	c.2234C>T	p.S745F	10:121483765-121483765	21
521	COSM732369	FBXW7	skin,eye,carcinoma,NS	c.535C>T	p.R179C	4:152350091-152350091	21
522	COSM6926793	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.4064C>T	p.P1355L	4:186636144-186636144	21
523	COSM1054163	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.7789C>T	p.R2597*	4:186618797-186618797	21
524	COSM6926792	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.4064C>T	p.P1355L	4:186636144-186636144	21
525	COSM4005729	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.46C>T	p.Q16*	4:186709782-186709782	21
526	COSM6933704	FAT1	skin,ear,carcinoma,NS	c.4810G>A	p.G1604R	4:186628154-186628154	21
527	COSM6926790	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.11869C>T	p.R3957C	4:186600132-186600132	21
528	COSM6912906	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.4323+2T>G	p.?	4:186633682-186633682	21
529	COSM4981738	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.2527C>T	p.Q843*	4:186707301-186707301	21
530	COSM6926788	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.12815C>T	p.S4272F	4:186596725-186596725	21
531	COSM4981737	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.2527C>T	p.Q843*	4:186707301-186707301	21
532	COSM6912905	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.4323+2T>G	p.?	4:186633682-186633682	21
533	COSM6926789	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.12815C>T	p.S4272F	4:186596725-186596725	21
534	COSM6926791	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.11869C>T	p.R3957C	4:186600132-186600132	21
535	COSM4005728	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.46C>T	p.Q16*	4:186709782-186709782	21
536	COSM6933703	FAT1	skin,ear,carcinoma,NS	c.4810G>A	p.G1604R	4:186628154-186628154	21
537	COSM1054161	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.7789C>T	p.R2597*	4:186618797-186618797	21
538	COSM6953813	FANCA	skin,NS,carcinoma,basal cell carcinoma	c.4114G>A	p.D1372N	16:89739186-89739186	21
539	COSM6951266	ERCC4	skin,NS,carcinoma,basal cell carcinoma	c.949G>A	p.E317K	16:13930866-13930866	21
540	COSM6912897	ERBB4	skin,NS,carcinoma,basal cell carcinoma	c.2202+1G>A	p.?	2:211623921-211623921	21
541	COSM6926765	ERBB4	skin,NS,carcinoma,basal cell carcinoma	c.1223C>T	p.P408L	2:211704170-211704170	21
542	COSM6926778	EPHB1	skin,NS,carcinoma,basal cell carcinoma	c.2446G>A	p.E816K	3:135241247-135241247	21
543	COSM6926799	EPHA7	skin,NS,carcinoma,basal cell carcinoma	c.1927G>A	p.E643K	6:93258282-93258282	21
544	COSM1723966	EPHA7	skin,NS,carcinoma,basal cell carcinoma	c.1393G>A	p.E465K	6:93272354-93272354	21
545	COSM6962962	EPHA7	skin,neck,carcinoma,NS	c.2468G>A	p.G823E	6:93254711-93254711	21
546	COSM4992793	EPHA7	skin,NS,carcinoma,basal cell carcinoma	c.2059G>A	p.G687R	6:93258150-93258150	21
547	COSM6926801	EPHA7	skin,NS,carcinoma,basal cell carcinoma	c.1507A>G	p.N503D	6:93269603-93269603	21
548	COSM1430547	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.1658G>A	p.R553Q	4:65414313-65414313	21
549	COSM6912901	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.733G>A	p.D245N	4:65601818-65601818	21
550	COSM6936911	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.1021G>A	p.D341N	4:65495433-65495433	21
551	COSM6953782	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.881G>A	p.G294E	4:65601670-65601670	21
552	COSM6866987	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.2513G>A	p.G838E	4:65348199-65348199	21
553	COSM6953783	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.719T>G	p.L240W	4:65601832-65601832	21
554	COSM6953781	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.1823C>T	p.S608F	4:65377031-65377031	21
555	COSM6926783	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.2197C>T	p.H733Y	4:65365056-65365056	21
556	COSM6926784	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.2146A>G	p.K716E	4:65365107-65365107	21
557	COSM5918388	EPHA5	skin,neck,carcinoma,NS	c.2608G>A	p.E870K	4:65348104-65348104	21
558	COSM6936910	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.1318G>A	p.E440K	4:65490461-65490461	21
559	COSM6926771	EPHA3	skin,NS,carcinoma,basal cell carcinoma	c.1426G>A	p.E476K	3:89395956-89395956	21
560	COSM6926773	EPHA3	skin,NS,carcinoma,basal cell carcinoma	c.2182C>T	p.R728*	3:89431195-89431195	21
561	COSM6962957	EPHA3	skin,neck,carcinoma,NS	c.632T>A	p.M211K	3:89210338-89210338	21
562	COSM6926769	EPHA3	skin,NS,carcinoma,basal cell carcinoma	c.1061G>T	p.R354L	3:89341845-89341845	21
563	COSM6926774	EPHA3	skin,NS,carcinoma,basal cell carcinoma	c.2684C>T	p.A895V	3:89450364-89450364	21
564	COSM4527016	EPHA3	skin,NS,carcinoma,basal cell carcinoma	c.1435G>A	p.E479K	3:89399321-89399321	21
565	COSM6946976	EPHA3	skin,neck,carcinoma,NS	c.533G>A	p.G178E	3:89210239-89210239	21
566	COSM6848800	DOT1L	skin,NS,carcinoma,basal cell carcinoma	c.3640C>T	p.P1214S	19:2225431-2225431	21
567	COSM6949581	DOT1L	skin,NS,carcinoma,basal cell carcinoma	c.4292C>T	p.A1431V	19:2226813-2226813	21
568	COSM6951274	DNMT1	skin,NS,carcinoma,basal cell carcinoma	c.2128C>T	p.P710S	19:10151487-10151487	21
569	COSM6912932	DICER1	skin,NS,carcinoma,basal cell carcinoma	c.4798G>A	p.E1600K	14:95096122-95096122	21
570	COSM6953808	DICER1	skin,NS,carcinoma,basal cell carcinoma	c.421G>A	p.E141K	14:95131526-95131526	21
571	COSM6926761	DDR2	skin,NS,carcinoma,basal cell carcinoma	c.199G>A	p.E67K	1:162754637-162754637	21
572	COSM6951243	DDR2	skin,NS,carcinoma,basal cell carcinoma	c.1636G>A	p.D546N	1:162772155-162772155	21
573	COSM3046519	CUL3	skin,NS,carcinoma,basal cell carcinoma	c.1153C>T	p.P385S	2:224506009-224506009	21
574	COSM5662	CTNNB1	skin,NS,carcinoma,basal cell carcinoma	c.110C>T	p.S37F	3:41224622-41224622	21
575	COSM6926767	CTNNB1	skin,NS,carcinoma,basal cell carcinoma	c.1718G>T	p.C573F	3:41235758-41235758	21
576	COSM6971612	CTNNB1	skin,eye,carcinoma,NS	c.1420C>T	p.R474*	3:41233763-41233763	21
577	COSM4007517	CSF3R	skin,NS,carcinoma,basal cell carcinoma	c.59C>T	p.P20L	1:36479438-36479438	21
578	COSM6926873	CIC	skin,NS,carcinoma,basal cell carcinoma	c.2123G>A	p.R708K	19:42290891-42290891	21
579	COSM12476	CDKN2A	skin,NS,carcinoma,basal cell carcinoma	c.341C>T	p.P114L	9:21971018-21971018	21
580	COSM13828	CDKN2A	skin,eye,carcinoma,NS	c.149A>G	p.Q50R	9:21974679-21974679	21
581	COSM13223	CDKN2A	skin,face,carcinoma,NS	c.151-1G>A	p.?	9:21971209-21971209	21
582	COSM13496	CDKN2A	skin,face,carcinoma,NS	c.151G>A	p.V51I	9:21971208-21971208	21
583	COSM12506	CDKN2A	skin,face,carcinoma,NS	c.148C>T	p.Q50*	9:21974680-21974680	21
584	COSM6936925	CDK12	skin,NS,carcinoma,basal cell carcinoma	c.64C>T	p.Q22*	17:39462135-39462135	21
585	COSM6953814	CDK12	skin,NS,carcinoma,basal cell carcinoma	c.1702C>T	p.P568S	17:39471534-39471534	21
586	COSM1937734	CD276	skin,NS,carcinoma,basal cell carcinoma	c.904G>A	p.D302N	15:73703829-73703829	21
587	COSM3078946	CCND3	skin,NS,carcinoma,basal cell carcinoma	c.848C>T	p.T283I	6:41935971-41935971	21
588	COSM6962956	CASP8	skin,neck,carcinoma,NS	c.1382C>T	p.T461I	2:201286485-201286485	21
589	COSM3713589	CASP8	skin,neck,carcinoma,NS	c.1093C>T	p.L365F	2:201285055-201285055	21
590	COSM6912913	CARD11	skin,NS,carcinoma,basal cell carcinoma	c.2698C>T	p.L900F	7:2917295-2917295	21
591	COSM4549748	CARD11	skin,NS,carcinoma,basal cell carcinoma	c.481G>A	p.D161N	7:2944415-2944415	21
592	COSM4900080	BTK	skin,eye,carcinoma,NS	c.262G>A	p.E88K	23:101371680-101371680	21
593	COSM6971615	BRIP1	skin,eye,carcinoma,NS	c.1463C>T	p.P488L	17:61793607-61793607	21
594	COSM6909698	BRCA2	skin,NS,carcinoma,basal cell carcinoma	c.4382C>T	p.S1461F	13:32338737-32338737	21
595	COSM6926839	BIRC3	skin,NS,carcinoma,basal cell carcinoma	c.1604C>T	p.P535L	11:102336784-102336784	21
596	COSM6953825	BCOR	skin,NS,carcinoma,basal cell carcinoma	c.4519G>A	p.D1507N	23:40055488-40055488	21
597	COSM6971610	BARD1	skin,eye,carcinoma,NS	c.722C>T	p.S241F	2:214781152-214781152	21
598	COSM6912900	BARD1	skin,NS,carcinoma,basal cell carcinoma	c.1879G>A	p.G627R	2:214745091-214745091	21
599	COSM6912954	AXL	skin,NS,carcinoma,basal cell carcinoma	c.1652C>T	p.S551F	19:41248788-41248788	21
600	COSM6926878	AURKA	skin,NS,carcinoma,basal cell carcinoma	c.260C>T	p.P87L	20:56386316-56386316	21
601	COSM6909699	ATRX	skin,NS,carcinoma,basal cell carcinoma	c.5389G>T	p.V1797F	23:77618865-77618865	21
602	COSM21323	ATM	skin,neck,carcinoma,NS	c.1009C>T	p.R337C	11:108247071-108247071	21
603	COSM173211	ATM	skin,NS,carcinoma,basal cell carcinoma	c.748C>T	p.R250*	11:108244873-108244873	21
604	COSM1235406	ATM	skin,NS,carcinoma,basal cell carcinoma	c.7466C>T	p.S2489F	11:108330372-108330372	21
605	COSM6926763	ASXL2	skin,NS,carcinoma,basal cell carcinoma	c.1121C>T	p.S374L	2:25744436-25744436	21
606	COSM6926842	ARID2	skin,NS,carcinoma,basal cell carcinoma	c.705+1G>A	p.?	12:45821488-45821488	21
607	COSM6926807	ARID1B	skin,NS,carcinoma,basal cell carcinoma	c.3433C>T	p.P1145S	6:157184372-157184372	21
608	COSM6909693	ARID1A	skin,NS,carcinoma,basal cell carcinoma	c.5834C>T	p.P1945L	1:26779732-26779732	21
609	COSM6912887	ARID1A	skin,NS,carcinoma,basal cell carcinoma	c.1954G>A	p.G652R	1:26760889-26760889	21
610	COSM6924342	ARID1A	skin,NS,carcinoma,basal cell carcinoma	c.3406+2T>A	p.?	1:26771328-26771328	21
611	COSM6951281	ARAF	skin,NS,carcinoma,basal cell carcinoma	c.3G>T	p.M1I	23:47562970-47562970	21
612	COSM3562855	AR	skin,NS,carcinoma,basal cell carcinoma	c.712G>A	p.E238K	23:67545858-67545858	21
613	COSM6921907	AR	skin,NS,carcinoma,basal cell carcinoma	c.1117G>A	p.G373R	23:67546263-67546263	21
614	COSM6982919	AR	skin,eye,carcinoma,NS	c.1883G>A	p.G628E	23:67686124-67686124	21
615	COSM6950941	APC	skin,neck,carcinoma,NS	c.536C>T	p.S179F	5:112780794-112780794	21
616	COSM1432255	APC	skin,eye,carcinoma,NS	c.3367C>T	p.Q1123*	5:112838961-112838961	21
617	COSM1059567	APC	skin,NS,carcinoma,basal cell carcinoma	c.2185C>T	p.L729F	5:112837779-112837779	21
618	COSM6912911	APC	skin,NS,carcinoma,basal cell carcinoma	c.518C>T	p.P173L	5:112775724-112775724	21
619	COSM6953812	ANKRD11	skin,NS,carcinoma,basal cell carcinoma	c.4070C>T	p.S1357F	16:89282472-89282472	21
620	COSM6951283	AMER1	skin,NS,carcinoma,basal cell carcinoma	c.979G>A	p.G327S	23:64192308-64192308	21
621	COSM6951246	AKT3	skin,NS,carcinoma,basal cell carcinoma	c.617C>T	p.P206L	1:243615106-243615106	21
622	COSM6962953	AKT3	skin,neck,carcinoma,NS	c.1164-1G>A	p.?	1:243545598-243545598	21
623	COSM6912952	AKT2	skin,NS,carcinoma,basal cell carcinoma	c.1255C>T	p.Q419*	19:40235271-40235271	21
624	COSM1600318		skin,ear,carcinoma,NS	c.702C>A	p.Y234*	17:7674261-7674261	21
625	COSM5937391		skin,NS,carcinoma,basal cell carcinoma	c.1726C>T	p.Q576*	9:95476036-95476036	21
626	COSM6172264		skin,NS,carcinoma,basal cell carcinoma	c.379C>T	p.P127S	6:106095702-106095702	21
627	COSM6953810		skin,NS,carcinoma,basal cell carcinoma	c.869C>T	p.P290L	16:2058767-2058767	21
628	COSM6962993		skin,neck,carcinoma,NS	c.1619G>A	p.G540E	20:42352227-42352227	21
629	COSM6971616		skin,eye,carcinoma,NS	c.1463C>T	p.P488L	17:61793607-61793607	21
630	COSM3675533		skin,face,carcinoma,NS	c.375+1G>A	p.?	17:7675993-7675993	21
631	COSM6912955		skin,NS,carcinoma,basal cell carcinoma	c.5658G>A	p.M1886I	23:71137293-71137293	21
632	COSM6982920		skin,eye,carcinoma,NS	c.287G>A	p.G96E	23:67686124-67686124	21
633	COSM99602		skin,neck,carcinoma,NS	c.743G>A	p.R248Q	17:7674220-7674220	21
634	COSM6903620		skin,face,carcinoma,NS	c.3154A>C	p.T1052P	9:136508887-136508887	21
635	COSM6921908		skin,NS,carcinoma,basal cell carcinoma	c.547G>A	p.G183R	23:67546263-67546263	21
636	COSM6912895		skin,NS,carcinoma,basal cell carcinoma	c.764C>T	p.S255F	2:98539621-98539621	21
637	COSM6912951		skin,NS,carcinoma,basal cell carcinoma	c.3083C>T	p.P1028L	19:15242986-15242986	21
638	COSM6926816		skin,NS,carcinoma,basal cell carcinoma	c.1172C>T	p.A391V	8:127740765-127740765	21
639	COSM6926837		skin,NS,carcinoma,basal cell carcinoma	c.1031C>T	p.P344L	11:64365425-64365425	21
640	COSM6951254		skin,NS,carcinoma,basal cell carcinoma	c.785T>A	p.L262*	9:95480550-95480550	21
641	COSM139044		skin,face,carcinoma,NS	c.832C>T	p.P278S	17:7673788-7673788	21
642	COSM6903568		skin,face,carcinoma,NS	c.1486A>G	p.S496G	9:136517341-136517341	21
643	COSM6951257		skin,NS,carcinoma,basal cell carcinoma	c.782T>A	p.L261*	9:95480550-95480550	21
644	COSM99667		skin,face,carcinoma,NS	c.307C>T	p.R103*	17:7674945-7674945	21
645	COSM139811		skin,face,carcinoma,NS	c.2468-1G>A	p.?	9:136511272-136511272	21
646	COSM2744631		skin,NS,carcinoma,basal cell carcinoma	c.713G>T	p.C238F	17:7674250-7674250	21
647	COSM3701293		skin,face,carcinoma,NS	c.706T>C	p.Y236H	17:7674257-7674257	21
648	COSM5542940		skin,NS,carcinoma,basal cell carcinoma	c.80C>T	p.S27L	13:28467602-28467602	21
649	COSM6985419		skin,eye,carcinoma,NS	c.149A>G	p.Q50R	9:21974679-21974679	21
650	COSM1640830		skin,neck,carcinoma,NS	c.743G>A	p.R248Q	17:7674220-7674220	21
651	COSM3388183		skin,NS,carcinoma,basal cell carcinoma	c.742C>T	p.R248W	17:7674221-7674221	21
652	COSM5047027		skin,ear,carcinoma,NS	c.702C>A	p.Y234*	17:7674261-7674261	21
653	COSM6903516		skin,face,carcinoma,NS	c.199C>T	p.P67S	9:136523921-136523921	21
654	COSM6926806		skin,NS,carcinoma,basal cell carcinoma	c.3487C>T	p.P1163S	6:157184372-157184372	21
655	COSM5752722		skin,face,carcinoma,NS	c.714T>A	p.C238*	17:7674249-7674249	21
656	COSM6903530		skin,ear,carcinoma,NS	c.866-2A>C	p.?	9:136518826-136518826	21
657	COSM6953802		skin,NS,carcinoma,basal cell carcinoma	c.1339C>T	p.P447S	9:136517854-136517854	21
658	COSM3562856		skin,NS,carcinoma,basal cell carcinoma	c.142G>A	p.E48K	23:67545858-67545858	21
659	COSM6903694		skin,face,carcinoma,NS	c.4355C>T	p.P1452L	9:136505541-136505541	21
660	COSM6936927		skin,NS,carcinoma,basal cell carcinoma	c.286-1G>A	p.?	17:42291971-42291971	21
661	COSM6962972		skin,neck,carcinoma,NS	c.1727G>A	p.S576N	9:8504347-8504347	21
662	COSM3403263		skin,NS,carcinoma,basal cell carcinoma	c.713G>T	p.C238F	17:7674250-7674250	21
663	COSM6912929		skin,NS,carcinoma,basal cell carcinoma	c.1912G>A	p.E638K	12:328891-328891	21
664	COSM1739746		skin,NS,carcinoma,basal cell carcinoma	c.7466C>T	p.S2489F	11:108330372-108330372	21
665	COSM6982912		skin,eye,carcinoma,NS	c.407G>A	p.G136E	2:98536148-98536148	21
666	COSM1646810		skin,face,carcinoma,NS	c.832C>T	p.P278S	17:7673788-7673788	21
667	COSM1679494		skin,NS,carcinoma,basal cell carcinoma	c.772G>A	p.E258K	17:7674191-7674191	21
668	COSM6909697		skin,NS,carcinoma,basal cell carcinoma	c.4382C>T	p.S1461F	13:32338737-32338737	21
669	COSM6912957		skin,NS,carcinoma,basal cell carcinoma	c.5658G>A	p.M1886I	23:71137293-71137293	21
670	COSM6926856		skin,NS,carcinoma,basal cell carcinoma	c.679T>A	p.C227S	16:2056674-2056674	21
671	COSM6962978		skin,neck,carcinoma,NS	c.2237C>T	p.S746F	10:121483765-121483765	21
672	COSM6985418		skin,eye,carcinoma,NS	c.149A>G	p.Q50R	9:21974679-21974679	21
673	COSM99624		skin,NS,carcinoma,basal cell carcinoma	c.713G>T	p.C238F	17:7674250-7674250	21
674	COSM5989694		skin,NS,carcinoma,basal cell carcinoma	c.4045C>T	p.R1349W	9:95447208-95447208	21
675	COSM6903618		skin,face,carcinoma,NS	c.3055C>T	p.Q1019*	9:136508986-136508986	21
676	COSM6962995		skin,neck,carcinoma,NS	c.1607C>T	p.S536L	20:42352239-42352239	21
677	COSM6903796		skin,face,carcinoma,NS	c.7503G>C	p.Q2501H	9:136496236-136496236	21
678	COSM6926787		skin,NS,carcinoma,basal cell carcinoma	c.1462C>G	p.P488A	4:142160459-142160459	21
679	COSM99665		skin,face,carcinoma,NS	c.586C>T	p.R196*	17:7674945-7674945	21
680	COSM6926830		skin,NS,carcinoma,basal cell carcinoma	c.584+1G>A	p.?	9:95485684-95485684	21
681	COSM1600319		skin,ear,carcinoma,NS	c.702C>A	p.Y234*	17:7674261-7674261	21
682	COSM1640831		skin,face,carcinoma,NS	c.742C>T	p.R248W	17:7674221-7674221	21
683	COSM3395759		skin,face,carcinoma,NS	c.148C>T	p.Q50*	9:21974680-21974680	21
684	COSM6949580		skin,NS,carcinoma,basal cell carcinoma	c.4292C>T	p.A1431V	19:2226813-2226813	21
685	COSM6903556		skin,ear,carcinoma,NS	c.1289T>A	p.I430N	9:136517904-136517904	21
686	COSM6912928		skin,NS,carcinoma,basal cell carcinoma	c.1344+1G>A	p.?	9:95478054-95478054	21
687	COSM6926825		skin,NS,carcinoma,basal cell carcinoma	c.1774G>A	p.G592S	9:8504309-8504309	21
688	COSM1350749		skin,neck,carcinoma,NS	c.1009C>T	p.R337C	11:108247071-108247071	21
689	COSM3701296		skin,face,carcinoma,NS	c.427T>C	p.Y143H	17:7674257-7674257	21
690	COSM6912953		skin,NS,carcinoma,basal cell carcinoma	c.1679C>T	p.S560F	19:41248788-41248788	21
691	COSM753742		skin,NS,carcinoma,basal cell carcinoma	c.507C>T	p.A169A	9:21971018-21971018	21
692	COSM6903738		skin,face,carcinoma,NS	c.5065T>C	p.S1689P	9:136503284-136503284	21
693	COSM6903967		skin,ear,carcinoma,NS	c.988C>T	p.L330F	17:7673540-7673540	21
694	COSM6962951		skin,neck,carcinoma,NS	c.1164-1G>A	p.?	1:243545598-243545598	21
695	COSM1087612		skin,NS,carcinoma,basal cell carcinoma	c.3899G>A	p.R1300K	7:152205168-152205168	21
696	COSM6903704		skin,face,carcinoma,NS	c.4417G>A	p.G1473S	9:136505479-136505479	21
697	COSM1700913		skin,neck,carcinoma,NS	c.1261C>T	p.P421S	9:8518130-8518130	21
698	COSM2744975		skin,face,carcinoma,NS	c.375+1G>A	p.?	17:7675993-7675993	21
699	COSM6953819		skin,NS,carcinoma,basal cell carcinoma	c.4036G>A	p.G1346R	19:7117169-7117169	21
700	COSM120006		skin,face,carcinoma,NS	c.463C>T	p.R155W	17:7674221-7674221	21
701	COSM1700915		skin,neck,carcinoma,NS	c.1252C>T	p.P418S	9:8518130-8518130	21
702	COSM2813735		skin,NS,carcinoma,basal cell carcinoma	c.3574C>T	p.R1192C	19:11033317-11033317	21
703	COSM6951267		skin,NS,carcinoma,basal cell carcinoma	c.67G>A	p.E23K	16:81786056-81786056	21
704	COSM6962982		skin,neck,carcinoma,NS	c.4377T>G	p.C1459W	11:118488658-118488658	21
705	COSM3388175		skin,ear,carcinoma,NS	c.796G>A	p.G266R	17:7673824-7673824	21
706	COSM3403258		skin,ear,carcinoma,NS	c.764T>G	p.I255S	17:7674199-7674199	21
707	COSM4906064		skin,NS,carcinoma,basal cell carcinoma	c.407C>T	p.P136L	4:142314728-142314728	21
708	COSM6903598		skin,face,carcinoma,NS	c.2578G>A	p.G860S	9:136511161-136511161	21
709	COSM6903966		skin,ear,carcinoma,NS	c.988C>T	p.L330F	17:7673540-7673540	21
710	COSM6903919		skin,face,carcinoma,NS	c.260C>A	p.P87Q	17:7676109-7676109	21
711	COSM6912916		skin,NS,carcinoma,basal cell carcinoma	c.14309C>T	p.P4770L	7:152145189-152145189	21
712	COSM129830		skin,NS,carcinoma,basal cell carcinoma	c.839G>A	p.R280K	17:7673781-7673781	21
713	COSM6903499		skin,ear,carcinoma,NS	c.5C>T	p.T2I	12:25245380-25245380	21
714	COSM6903632		skin,face,carcinoma,NS	c.3394C>T	p.R1132C	9:136508071-136508071	21
715	COSM1172462		skin,NS,carcinoma,basal cell carcinoma	c.772G>A	p.E258K	17:7674191-7674191	21
716	COSM3522695		skin,face,carcinoma,NS	c.722C>T	p.S241F	17:7674241-7674241	21
717	COSM5610129		skin,NS,carcinoma,basal cell carcinoma	c.2131C>T	p.P711S	9:8499838-8499838	21
718	COSM127094		skin,face,carcinoma,NS	c.317-1G>A	p.?	9:21971209-21971209	21
719	COSM254987		skin,eye,carcinoma,NS	c.839G>C	p.R280T	17:7673781-7673781	21
720	COSM6903763		skin,face,carcinoma,NS	c.5932C>T	p.Q1978*	9:136500554-136500554	21
721	COSM6953787		skin,NS,carcinoma,basal cell carcinoma	c.4885-1G>A	p.?	6:117341312-117341312	21
722	COSM6962950		skin,neck,carcinoma,NS	c.430C>T	p.P144S	1:77966737-77966737	21
723	COSM99626		skin,NS,carcinoma,basal cell carcinoma	c.713G>T	p.C238F	17:7674250-7674250	21
724	COSM1700912		skin,neck,carcinoma,NS	c.1261C>T	p.P421S	9:8518130-8518130	21
725	COSM6926872		skin,NS,carcinoma,basal cell carcinoma	c.1448C>T	p.S483F	19:17838384-17838384	21
726	COSM6962991		skin,neck,carcinoma,NS	c.1369C>T	p.P457S	17:40356221-40356221	21
727	COSM99020		skin,neck,carcinoma,NS	c.743G>A	p.R248Q	17:7674220-7674220	21
728	COSM1637748		skin,ear,carcinoma,NS	c.764T>G	p.I255S	17:7674199-7674199	21
729	COSM5989695		skin,NS,carcinoma,basal cell carcinoma	c.4045C>T	p.R1349W	9:95447208-95447208	21
730	COSM6926848		skin,NS,carcinoma,basal cell carcinoma	c.1276C>T	p.Q426*	12:68839631-68839631	21
731	COSM99021		skin,neck,carcinoma,NS	c.464G>A	p.R155Q	17:7674220-7674220	21
732	COSM1228951		skin,NS,carcinoma,basal cell carcinoma	c.2636C>T	p.S879L	10:68645365-68645365	21
733	COSM3723938		skin,ear,carcinoma,NS	c.824G>T	p.C275F	17:7673796-7673796	21
734	COSM3928055		skin,NS,carcinoma,basal cell carcinoma	c.3088C>T	p.R1030*	6:117365075-117365075	21
735	COSM4271777		skin,NS,carcinoma,basal cell carcinoma	c.772G>A	p.E258K	17:7674191-7674191	21
736	COSM6962979		skin,neck,carcinoma,NS	c.1967C>T	p.S656F	10:121483765-121483765	21
737	COSM6982921		skin,eye,carcinoma,NS	c.1313G>A	p.G438E	23:67686124-67686124	21
738	COSM6924343		skin,NS,carcinoma,basal cell carcinoma	c.536C>T	p.P179L	19:1220444-1220444	21
739	COSM6937551		skin,eye,carcinoma,NS	c.859G>C	p.E287Q	17:7673761-7673761	21
740	COSM6971609		skin,eye,carcinoma,NS	c.722C>T	p.S241F	2:214781152-214781152	21
741	COSM3378446		skin,face,carcinoma,NS	c.586C>T	p.R196*	17:7674945-7674945	21
742	COSM6903494		skin,face,carcinoma,NS	c.409T>G	p.Y137D	11:533494-533494	21
743	COSM6912941		skin,NS,carcinoma,basal cell carcinoma	c.463G>A	p.D155N	19:10986296-10986296	21
744	COSM6936930		skin,NS,carcinoma,basal cell carcinoma	c.4012G>T	p.E1338*	19:7117193-7117193	21
745	COSM6951242		skin,NS,carcinoma,basal cell carcinoma	c.1636G>A	p.D546N	1:162772155-162772155	21
746	COSM6962952		skin,neck,carcinoma,NS	c.1164-1G>A	p.?	1:243545598-243545598	21
747	COSM1640847		skin,face,carcinoma,NS	c.586C>T	p.R196*	17:7674945-7674945	21
748	COSM6903921		skin,face,carcinoma,NS	c.260C>A	p.P87Q	17:7676109-7676109	21
749	COSM6912940		skin,NS,carcinoma,basal cell carcinoma	c.2827C>T	p.L943F	19:5222953-5222953	21
750	COSM6953796		skin,NS,carcinoma,basal cell carcinoma	c.933A>G	p.I311M	9:8521296-8521296	21
751	COSM6962969		skin,neck,carcinoma,NS	c.1736G>A	p.S579N	9:8504347-8504347	21
752	COSM6937553		skin,eye,carcinoma,NS	c.859G>C	p.E287Q	17:7673761-7673761	21
753	COSM6962971		skin,neck,carcinoma,NS	c.1706G>A	p.S569N	9:8504347-8504347	21
754	COSM1151204		skin,eye,carcinoma,NS	c.901C>T	p.R301C	9:125149801-125149801	21
755	COSM1172461		skin,NS,carcinoma,basal cell carcinoma	c.772G>A	p.E258K	17:7674191-7674191	21
756	COSM1490144		skin,neck,carcinoma,NS	c.3830C>T	p.S1277F	9:8341168-8341168	21
757	COSM99666		skin,face,carcinoma,NS	c.190C>T	p.R64*	17:7674945-7674945	21
758	COSM120007		skin,face,carcinoma,NS	c.742C>T	p.R248W	17:7674221-7674221	21
759	COSM5047026		skin,ear,carcinoma,NS	c.702C>A	p.Y234*	17:7674261-7674261	21
760	COSM5884807		skin,face,carcinoma,NS	c.4156C>A	p.P1386T	9:136505740-136505740	21
761	COSM6903688		skin,face,carcinoma,NS	c.4309G>A	p.G1437R	9:136505587-136505587	21
762	COSM6962959		skin,neck,carcinoma,NS	c.2427A>G	p.*809W	4:1807262-1807262	21
763	COSM6962981		skin,neck,carcinoma,NS	c.2228C>T	p.S743F	10:121483765-121483765	21
764	COSM1640851		skin,NS,carcinoma,basal cell carcinoma	c.524G>A	p.R175H	17:7675088-7675088	21
765	COSM3092257		skin,NS,carcinoma,basal cell carcinoma	c.341C>T	p.P114L	9:21971018-21971018	21
766	COSM4646622		skin,NS,carcinoma,basal cell carcinoma	c.2713C>T	p.R905W	19:5223082-5223082	21
767	COSM6903488		skin,face,carcinoma,NS	c.205G>C	p.D69H	11:533851-533851	21
768	COSM6903600		skin,face,carcinoma,NS	c.2609T>C	p.I870T	9:136510784-136510784	21
769	COSM6951278		skin,NS,carcinoma,basal cell carcinoma	c.748+2T>G	p.?	23:45051804-45051804	21
770	COSM6903702		skin,face,carcinoma,NS	c.4417G>T	p.G1473C	9:136505479-136505479	21
771	COSM6912920		skin,NS,carcinoma,basal cell carcinoma	c.2979A>C	p.K993N	9:8485838-8485838	21
772	COSM6912924		skin,NS,carcinoma,basal cell carcinoma	c.3755A>T	p.Q1252L	9:95449115-95449115	21
773	COSM6912926		skin,NS,carcinoma,basal cell carcinoma	c.1347+1G>A	p.?	9:95478054-95478054	21
774	COSM6926812		skin,NS,carcinoma,basal cell carcinoma	c.6350C>T	p.S2117F	7:152181510-152181510	21
775	COSM2936618		skin,NS,carcinoma,basal cell carcinoma	c.404C>T	p.P135L	22:29642242-29642242	21
776	COSM6926760		skin,NS,carcinoma,basal cell carcinoma	c.199G>A	p.E67K	1:162754637-162754637	21
777	COSM6926762		skin,NS,carcinoma,basal cell carcinoma	c.1901C>T	p.S634L	2:25744436-25744436	21
778	COSM6926819		skin,NS,carcinoma,basal cell carcinoma	c.4162G>A	p.D1388N	9:8331736-8331736	21
779	COSM6926828		skin,NS,carcinoma,basal cell carcinoma	c.1765G>A	p.G589S	9:8504309-8504309	21
780	COSM6951258		skin,NS,carcinoma,basal cell carcinoma	c.689G>A	p.G230E	9:136522903-136522903	21
781	COSM6903720		skin,face,carcinoma,NS	c.4546T>G	p.F1516V	9:136505350-136505350	21
782	COSM6909695		skin,NS,carcinoma,basal cell carcinoma	c.15112G>T	p.E5038*	12:49026854-49026854	21
783	COSM3546516		skin,NS,carcinoma,basal cell carcinoma	c.2083C>T	p.L695F	20:42315779-42315779	21
784	COSM4782284		skin,NS,carcinoma,basal cell carcinoma	c.326T>C	p.F109S	17:7676043-7676043	21
785	COSM6962966		skin,neck,carcinoma,NS	c.11659C>T	p.H3887Y	7:152158874-152158874	21
786	COSM753743		skin,NS,carcinoma,basal cell carcinoma	c.341C>T	p.P114L	9:21971018-21971018	21
787	COSM5939960	<

Brooke-Spiegler Syndrome (BRSS)

Aliases & Classifications for Brooke-Spiegler Syndrome

MalaCards integrated aliases for Brooke-Spiegler Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Brooke-Spiegler Syndrome

Related Diseases for Brooke-Spiegler Syndrome

Diseases related to Brooke-Spiegler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Brooke-Spiegler Syndrome:

Symptoms & Phenotypes for Brooke-Spiegler Syndrome

Human phenotypes related to Brooke-Spiegler Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

Drugs & Therapeutics for Brooke-Spiegler Syndrome

Drugs for Brooke-Spiegler Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: carcinoma, skin appendage

Genetic Tests for Brooke-Spiegler Syndrome

Genetic tests related to Brooke-Spiegler Syndrome:

Anatomical Context for Brooke-Spiegler Syndrome

MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

Genes for Brooke-Spiegler Syndrome

Genes related to Brooke-Spiegler Syndrome (1 elite genes):

Variations for Brooke-Spiegler Syndrome

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Brooke-Spiegler Syndrome:

Cosmic variations for Brooke-Spiegler Syndrome: