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

BRSS MCID: BRK001 MIFTS: 47	Brooke-Spiegler Syndrome (BRSS) Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Brooke-Spiegler Syndrome

MalaCards integrated aliases for Brooke-Spiegler Syndrome:

Name: Brooke-Spiegler Syndrome ⁵⁸ ¹² ⁵⁴ ²⁶ ⁶⁰ ⁷⁶ ³⁸ ¹⁵ ⁷⁴

Spiegler-Brooke Syndrome ⁵⁸ ⁵⁴ ²⁶ ⁷⁶ ³⁰ ¹³ ⁶ ⁴¹

Brss ⁵⁸ ⁵⁴ ²⁶ ⁷⁶

Sbs ⁵⁸ ⁵⁴ ⁷⁶

Bss ⁵⁸ ²⁶ ⁷⁶

Ancell-Spiegler Cylindromas ⁵⁴ ⁷⁴

Spiegler-Brooke Syndrome; Sbs ⁵⁸

Carcinoma, Skin Appendage ⁴⁵

Eccrine Dermal Cylindroma ⁷⁴

Skin Appendage Carcinoma ¹⁷

Schilbach-Rott Syndrome ⁷⁴

Cyld Cutaneous Syndrome ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

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

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare skin diseases

External Ids:

Disease Ontology ¹² DOID:0050693

OMIM ⁵⁸ 605041

KEGG ³⁸ H00827

MeSH ⁴⁵ D018280

MESH via Orphanet ⁴⁶ C536611

UMLS via Orphanet ⁷⁵ C1857941

Orphanet ⁶⁰ ORPHA79493

MedGen ⁴³ C1857941

SNOMED-CT via HPO ⁷⁰ 108369006 254679001 254683001 more

EFO ¹⁷ EFO_1001183

UMLS ⁷⁴ C1305968 C1834038 C1851526 more

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Summaries for Brooke-Spiegler Syndrome

NIH Rare Diseases : ⁵⁴ 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.

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. Affiliated tissues include skin, salivary gland and liver, 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.

Genetics Home Reference : ²⁶ 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.

OMIM : ⁵⁸ 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)

UniProtKB/Swiss-Prot : ⁷⁶ 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 : ⁷⁷ Multiple familial trichoepithelioma is a cutaneous condition characterized by multiple cystic and solid... more...

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Related Diseases for Brooke-Spiegler Syndrome

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

(showing 122, show less)

#	Related Disease	Score	Top Affiliating Genes
1	spiradenoma	30.9	CYLD KRT14
2	basal cell carcinoma	30.3	CYLD KRT8 PTCH1
3	bernard-soulier syndrome	12.1
4	basal cell carcinoma 1	11.8
5	cylindromatosis, familial	11.8
6	barber-say syndrome	11.8
7	sick building syndrome	11.6
8	schilbach-rott syndrome	11.5
9	short bowel syndrome	11.5
10	camptocormism	11.5
11	neural tube defects	11.4
12	shaken baby syndrome	11.4
13	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	11.4
14	brown-sequard syndrome	11.3
15	cowden syndrome 1	11.1
16	congenital short bowel syndrome	11.1
17	blood group, gerbich system	10.8
18	multiple familial trichoepithelioma	10.6
19	trichoepithelioma, multiple familial, 1	10.4
20	malignant cylindroma	10.4
21	bronchitis	10.4
22	neurofibromatosis, type i	10.3
23	neurofibromatosis, type iv, of riccardi	10.3
24	pulmonary disease, chronic obstructive	10.3
25	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
26	sinusitis	10.3
27	lymphoma	10.3
28	adenoid cystic carcinoma	10.3
29	syringoma	10.3
30	psoriasis	10.3
31	retinoblastoma	10.2
32	endophthalmitis	10.2
33	blood group, junior system	10.2
34	intraocular pressure quantitative trait locus	10.2
35	intestinal schistosomiasis	10.1
36	schistosomiasis	10.1
37	isolated optic neuritis	10.1
38	glaucoma-related pigment dispersion syndrome	10.1
39	acute insulin response	10.1
40	common cold	10.1
41	horns in sheep	10.0
42	pigmented basal cell carcinoma	10.0	KRT14 PTCH1
43	sweat gland disease	10.0	CYLD KRT14
44	hepatocellular carcinoma	10.0
45	multiple sclerosis	10.0
46	rheumatoid arthritis	10.0
47	cystic fibrosis	10.0
48	aging	10.0
49	asthma	10.0
50	pemphigus foliaceus	10.0
51	bone resorption disease	10.0
52	melanoma	10.0
53	tonsil cancer	9.9	CYLD KRT14
54	calcifying epithelial odontogenic tumor	9.9	KRT8 PTCH1
55	breast cancer	9.8
56	esophageal cancer	9.8
57	ige responsiveness, atopic	9.8
58	ovarian cancer	9.8
59	scoliosis, isolated 1	9.8
60	smith-magenis syndrome	9.8
61	disorganization, mouse, homolog of	9.8
62	osteogenic sarcoma	9.8
63	sudden infant death syndrome	9.8
64	short stature, idiopathic, x-linked	9.8
65	melnick-needles syndrome	9.8
66	intervertebral disc disease	9.8
67	orthostatic intolerance	9.8
68	anxiety	9.8
69	aplastic anemia	9.8
70	malaria	9.8
71	pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	9.8
72	pulmonary hypertension, primary, 4	9.8
73	acute lymphocytic leukemia	9.8
74	arthritis	9.8
75	brain injury	9.8
76	cutaneous leishmaniasis	9.8
77	diabetes mellitus	9.8
78	leukemia	9.8
79	liver disease	9.8
80	thalassemia	9.8
81	traumatic brain injury	9.8
82	chlamydia pneumonia	9.8
83	chronic venous insufficiency	9.8
84	scoliosis	9.8
85	idiopathic scoliosis	9.8
86	thrombosis	9.8
87	nonalcoholic fatty liver disease	9.8
88	venous insufficiency	9.8
89	lymphocytic leukemia	9.8
90	japanese encephalitis	9.8
91	chlamydia	9.8
92	coronary thrombosis	9.8
93	complex regional pain syndrome	9.8
94	ischemia	9.8
95	rhinitis	9.8
96	ulnar neuropathy	9.8
97	lung disease	9.8
98	neuropathy	9.8
99	learning disability	9.8
100	leishmaniasis	9.8
101	allergic asthma	9.8
102	fatty liver disease	9.8
103	hypertrophic cardiomyopathy	9.8
104	acute respiratory distress syndrome	9.8
105	bowenoid papulosis	9.8
106	haemophilus influenzae	9.8
107	primary orthostatic tremor	9.8
108	streptococcal group a invasive disease	9.8
109	cervical clear cell adenocarcinoma	9.8	KRT14 KRT8
110	odontoma	9.8	KRT14 KRT8
111	pregnancy adenoma	9.8	KRT14 KRT8
112	basaloid squamous cell carcinoma	9.8	KRT14 KRT8
113	intraneural perineurioma	9.7	KRT14 KRT8
114	breast fibroadenoma	9.7	KRT14 KRT8
115	primary cutaneous amyloidosis	9.7	KRT14 KRT8
116	sweat gland cancer	9.7	KRT14 KRT8
117	craniopharyngioma	9.7	KRT14 KRT8
118	ductal carcinoma in situ	9.6	KRT14 KRT8
119	melanoma, uveal	9.6	BAP1 KRT8
120	apocrine sweat gland neoplasm	9.5	CYLD KRT14 KRT8
121	ameloblastoma	9.5	KRT14 KRT8 PTCH1
122	papilloma	9.4	KRT14 KRT8

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

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Symptoms & Phenotypes for Brooke-Spiegler Syndrome

Human phenotypes related to Brooke-Spiegler Syndrome:

³³ (showing 2, show less)

#	Description	HPO Frequency	HPO Source Accession
1	neoplasm ³³		HP:0002664
2	milia ³³		HP:0001056

Symptoms via clinical synopsis from OMIM:

⁵⁸

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:

⁴⁷ (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

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Drugs & Therapeutics for Brooke-Spiegler Syndrome

Search Clinical Trials , NIH Clinical Center for Brooke-Spiegler Syndrome

Cochrane evidence based reviews: carcinoma, skin appendage

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Genetic Tests for Brooke-Spiegler Syndrome

Genetic tests related to Brooke-Spiegler Syndrome:

#	Genetic test	Affiliating Genes
1	Spiegler-Brooke Syndrome ³⁰	CYLD

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Anatomical Context for Brooke-Spiegler Syndrome

MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

⁴²

Skin, Salivary Gland, Liver, Brain, Bone, Breast, Bone Marrow

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Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

(showing 85, show less)

#	Title	Authors	Year
1	Brooke-Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis. ( 30628115 )	Hattori Y...Seishima M	2019
2	Trichoblastic carcinoma arising in trichoepithelioma in Brooke-Spiegler syndrome. ( 30971565 )	Leelamma JP...Kandasamy S	2019
3	CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome. ( 29478249 )	Parren LJMT...Frank J	2018
4	Turban Tumor: A Classical Presentation of Brooke-Spiegler Syndrome. ( 30050828 )	Patra S...Kumar R	2018
5	Brooke-Spiegler Syndrome. ( 30093932 )	Mohiuddin W...Cruse W	2018
6	A rare case of Brooke-Spiegler syndrome: integrated surgical treatment of multiple giant eccrine spiradenomas of the head and neck in a young girl. ( 30241087 )	Portincasa A...Parisi D	2018
7	Brooke-Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma. ( 30252697 )	Cakmak Genc G...Acuner B	2018
8	Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. ( 28098597 )	Kyrpychova L...Kazakov DV	2017
9	A Simple and Effective Method for Treating Cylindromas in Brooke-Spiegler Syndrome. ( 28388989 )	Lucas-Truyols S...Gimeno-Carpio E	2017
10	Brooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma. ( 28976013 )	C?re K...De?irmentepe E	2017
11	A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. ( 25976026 )	Shiver M...Gao L	2016
12	Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation. ( 26329847 )	Tantcheva-Po?r I...Kazakov DV	2016
13	A case of Brooke-Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin's lymphoma. ( 26660106 )	Hunstig F...La Ros?e P	2016
14	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. ( 26861065 )	Farkas K...Nagy N	2016
15	Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. ( 26971504 )	Kazakov DV	2016
16	Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. ( 26861436 )	Vega-Memije ME...Cuevas-Gonz?lez JC	2015
17	A novel CYLD germline mutation in Brooke-Spiegler syndrome. ( 25131725 )	Guardoli D...Longo C	2015
18	Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. ( 25502717 )	Denadai R...Raposo-Amaral CE	2015
19	CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. ( 25737804 )	Dubois A...Rajan N	2015
20	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. ( 25995191 )	Malzone MG...Fulciniti F	2015
21	Malignant cylindroma in a patient with Brooke-Spiegler syndrome. ( 26114054 )	Borik L...Kazlouskaya V	2015
22	Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation. ( 26512302 )	Pinho AC...Gon?alo MM	2015
23	Atypical adnexal tumors adjacent to basal cell carcinoma: a difficult problem in patients with Brooke-Spiegler syndrome undergoing Mohs surgery. ( 24372646 )	Launhardt A...North J	2014
24	Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor. ( 24559443 )	Ponti G...Nasti S	2014
25	Brooke-spiegler syndrome: a rare entity. ( 24587929 )	Rathi M...Kumar A	2014
26	Syndrome in question. Brooke-Spiegler syndrome. ( 24626672 )	Lavorato FG...Silva RS	2014
27	Late-onset Brooke-Spiegler syndrome with family histories of various cancers. ( 24628357 )	Matsuda M...Hashimoto T	2014
28	Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma. ( 25347032 )	Vanecek T...Kazakov DV	2014
29	Enucleation of cylindromas in Brooke-Spiegler syndrome: a novel surgical technique. ( 25361203 )	Brass D...Langtry J	2014
30	A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. ( 22689134 )	Hester CC...Seiff SR	2013
31	A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome. ( 22588548 )	Kacerovska D...Kazakov DV	2013
32	Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. ( 22735777 )	Peltonen S...Kankuri-Tammilehto M	2013
33	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. ( 23249834 )	Grossmann P...Kazakov DV	2013
34	A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome. ( 23641715 )	Kacerovsk? D...Kazakov D	2013
35	Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. ( 24261740 )	Chen M...Chen S	2013
36	Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. ( 22882113 )	Melly L...Rajan N	2012
37	Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. ( 22077640 )	Ponti G...Seidenari S	2012
38	Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. ( 22606564 )	Kalina P...El-Azhary R	2012
39	Brooke-spiegler syndrome: a rare entity. ( 22628987 )	Manchanda K...Pandey S	2012
40	Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. ( 22948057 )	Chaudhary S...Dayal S	2012
41	A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome. ( 23171463 )	Nagy N...Szell M	2012
42	Brooke-Spiegler syndrome. ( 23286806 )	Trufant J...Patel R	2012
43	Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. ( 21388481 )	LoPiccolo MC...Kouba DJ	2011
44	Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome. ( 20075707 )	Kazakov DV...Michal M	2010
45	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. ( 20132422 )	Kazakov DV...Michal M	2010
46	New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. ( 20151946 )	Scholz IM...N?her H	2010
47	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. ( 20502185 )	Sima R...Kazakov DV	2010
48	Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome. ( 19633533 )	Petersson F...Kazakov DV	2009
49	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. ( 19194280 )	Kazakov DV...Michal M	2009
50	Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. ( 19397670 )	Rajan N...Langtry JA	2009
51	Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. ( 19462465 )	Blake PW...Toro JR	2009
52	Dermoscopy of Brooke-Spiegler syndrome. ( 19620580 )	Jarrett R...Bowling J	2009
53	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. ( 19668078 )	Kazakov DV...Michal M	2009
54	Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. ( 19807742 )	Nasti S...Ghiorzo P	2009
55	Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. ( 18718192 )	Doherty SD...Joseph AK	2008
56	Brooke-Spiegler syndrome complicated by unilateral hearing loss. ( 18986490 )	Parren LJ...Frank J	2008
57	Brooke-Spiegler syndrome with associated pegged teeth. ( 19090338 )	Carlson RM...Pui JC	2008
58	Brooke-Spiegler syndrome. ( 19171990 )	Layegh P...Moghiman T	2008
59	Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome. ( 21886698 )	Sicinska J...Rudnicka L	2007
60	Brooke-Spiegler syndrome. ( 17511943 )	Kim C...Dosik J	2007
61	Brooke-Spiegler syndrome - report of four families: treatment with CO2 laser. ( 17550556 )	Retamar RA...Chouela EN	2007
62	A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene. ( 16634909 )	Heinritz W...Simon JC	2006
63	Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. ( 17083363 )	Zhang G...Zhang X	2006
64	CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. ( 16922728 )	Young AL...Celebi JT	2006
65	Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. ( 15677973 )	Kazakov DV...Michal M	2005
66	Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. ( 15854031 )	Bowen S...Celebi JT	2005
67	Psoriasis and Brooke-Spiegler syndrome with multiple malignancies. ( 15857473 )	K?stler E...Wollina U	2005
68	Brooke-Spiegler syndrome: treatment with laser ablation. ( 15953067 )	Rallan D...Harland CC	2005
69	Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma, spiradenoma, and syringoma. ( 14739501 )	Uede K...Furukawa F	2004
70	Case 3. Brooke-Spiegler syndrome. ( 15115535 )	Kakagia D...Alexiadis G	2004
71	Brooke-Spiegler syndrome with parotid gland involvement. ( 15246936 )	Kakagia D...Lambropoulou M	2004
72	Case of the Brooke-Spiegler syndrome. ( 15527432 )	Ly H...Robson A	2004
73	Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome. ( 12950348 )	Scheinfeld N...Celebi JT	2003
74	A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. ( 14632188 )	Hu G...Celebi JT	2003
75	Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. ( 12190880 )	Poblete Guti?rrez P...Frank J	2002
76	Ossified cylindroma in familial cylindromatosis (Brooke-Spiegler syndrome). ( 11493383 )	Kanitakis J...Disant F	2001
77	Brooke-Spiegler syndrome. ( 11730050 )	Szepietowski JC...Schwartz RA	2001
78	Brooke-Spiegler syndrome locus assigned to 16q12-q13. ( 10792569 )	Fenske C...Carter N	2000
79	Brooke-Spiegler syndrome: treatment of cylindromas with CO2 laser. ( 10971563 )	Martins C...B?rtolo E	2000
80	Malignant cylindroma in Brooke-Spiegler syndrome. ( 11096200 )	Pizinger K...Michal M	2000
81	Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. ( 9504671 )	Puig L...de Moragas JM	1998
82	A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome. An immunohistochemical study with cytokeratins. ( 8835176 )	Schirren CG...Plewig G	1995
83	Spiradenomas in Brooke-Spiegler syndrome. ( 7684205 )	Weyers W...Schill WB	1993
84	The clinicopathological features of familial cylindromas and trichoepitheliomas (Brooke-Spiegler syndrome): a report of two families. ( 1333921 )	Burrows NP...Smith NP	1992
85	Multiple hereditary trichoepithelioma and cylindroma (Brooke-Spiegler syndrome). ( 1660416 )	Delfino M...Donofrio V	1991

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	1358.9	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	12190880 12950348 14632188 (more) 16922728 15854031 19807742
2	PTCH1	Patched 1	Protein Coding	21.46	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	KRT14	Keratin 14	Protein Coding	20.78	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	KRT8	Keratin 8	Protein Coding	20.69	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	BAP1	BRCA1 Associated Protein 1	Protein Coding	17.41	GeneCards inferred via : Publications (show sections)

Sources

Variations for Brooke-Spiegler Syndrome

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

⁷⁶ (showing 1, show less)

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

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

⁶ (showing 183, show less)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CYLD	CYLD, 1-BP DEL, 2253G	deletion	Pathogenic
2	CYLD	CYLD, 1-BP DEL, 2172A	deletion	Pathogenic
3	CYLD	NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly)	single nucleotide variant	Pathogenic	rs121908389	GRCh37	Chromosome 16, 50825600: 50825600
4	CYLD	NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly)	single nucleotide variant	Pathogenic	rs121908389	GRCh38	Chromosome 16, 50791689: 50791689
5	CYLD	NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)	single nucleotide variant	Pathogenic	rs121908390	GRCh37	Chromosome 16, 50830354: 50830354
6	CYLD	NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)	single nucleotide variant	Pathogenic	rs121908390	GRCh38	Chromosome 16, 50796443: 50796443
7	CYLD	CYLD, 1-BP DUP, 1392T	duplication	Pathogenic
8	CYLD	NM_015247.2(CYLD): c.1292G> A (p.Gly431Glu)	single nucleotide variant	Likely benign	rs200494719	GRCh37	Chromosome 16, 50813729: 50813729
9	CYLD	NM_015247.2(CYLD): c.1292G> A (p.Gly431Glu)	single nucleotide variant	Likely benign	rs200494719	GRCh38	Chromosome 16, 50779818: 50779818
10	CYLD	NM_015247.2(CYLD): c.968_977delCAAGAGGTGT (p.Ser323Leufs)	deletion	Pathogenic	rs886040870	GRCh38	Chromosome 16, 50776224: 50776233
11	CYLD	NM_015247.2(CYLD): c.968_977delCAAGAGGTGT (p.Ser323Leufs)	deletion	Pathogenic	rs886040870	GRCh37	Chromosome 16, 50810135: 50810144
12	CYLD	NM_015247.2(CYLD): c.1537dupT (p.Cys513Leufs)	duplication	Pathogenic	rs886040874	GRCh38	Chromosome 16, 50781264: 50781264
13	CYLD	NM_015247.2(CYLD): c.1537dupT (p.Cys513Leufs)	duplication	Pathogenic	rs886040874	GRCh37	Chromosome 16, 50815175: 50815175
14	CYLD	NM_015247.2(CYLD): c.1599dupT (p.Val534Cysfs)	duplication	Pathogenic	rs886040875	GRCh38	Chromosome 16, 50781326: 50781326
15	CYLD	NM_015247.2(CYLD): c.1599dupT (p.Val534Cysfs)	duplication	Pathogenic	rs886040875	GRCh37	Chromosome 16, 50815237: 50815237
16	CYLD	NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys)	single nucleotide variant	Pathogenic	rs886040884	GRCh38	Chromosome 16, 50787852: 50787852
17	CYLD	NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys)	single nucleotide variant	Pathogenic	rs886040884	GRCh37	Chromosome 16, 50821763: 50821763
18	CYLD	NM_015247.2(CYLD): c.2138_2139dupAC (p.Phe714Thrfs)	duplication	Pathogenic	rs886040885	GRCh38	Chromosome 16, 50791587: 50791588
19	CYLD	NM_015247.2(CYLD): c.2138_2139dupAC (p.Phe714Thrfs)	duplication	Pathogenic	rs886040885	GRCh37	Chromosome 16, 50825498: 50825499
20	CYLD	NM_015247.2(CYLD): c.2342T> C (p.Leu781Pro)	single nucleotide variant	Uncertain significance	rs886040889	GRCh38	Chromosome 16, 50792697: 50792697
21	CYLD	NM_015247.2(CYLD): c.2342T> C (p.Leu781Pro)	single nucleotide variant	Uncertain significance	rs886040889	GRCh37	Chromosome 16, 50826608: 50826608
22	CYLD	NM_015247.2(CYLD): c.-161A> G	single nucleotide variant	Uncertain significance	rs886052051	GRCh37	Chromosome 16, 50778740: 50778740
23	CYLD	NM_015247.2(CYLD): c.-161A> G	single nucleotide variant	Uncertain significance	rs886052051	GRCh38	Chromosome 16, 50744829: 50744829
24	CYLD	NM_015247.2(CYLD): c.-23A> C	single nucleotide variant	Uncertain significance	rs771486432	GRCh37	Chromosome 16, 50783587: 50783587
25	CYLD	NM_015247.2(CYLD): c.-23A> C	single nucleotide variant	Uncertain significance	rs771486432	GRCh38	Chromosome 16, 50749676: 50749676
26	CYLD	NM_015247.2(CYLD): c.1172T> C (p.Ile391Thr)	single nucleotide variant	Likely benign	rs138976689	GRCh38	Chromosome 16, 50779698: 50779698
27	CYLD	NM_015247.2(CYLD): c.1172T> C (p.Ile391Thr)	single nucleotide variant	Likely benign	rs138976689	GRCh37	Chromosome 16, 50813609: 50813609
28	CYLD	NM_015247.2(CYLD): c.1473C> T (p.Ile491=)	single nucleotide variant	Likely benign	rs75757530	GRCh38	Chromosome 16, 50779999: 50779999
29	CYLD	NM_015247.2(CYLD): c.1473C> T (p.Ile491=)	single nucleotide variant	Likely benign	rs75757530	GRCh37	Chromosome 16, 50813910: 50813910
30	CYLD	NM_015247.2(CYLD): c.1503C> T (p.Leu501=)	single nucleotide variant	Uncertain significance	rs752471076	GRCh38	Chromosome 16, 50780029: 50780029
31	CYLD	NM_015247.2(CYLD): c.1503C> T (p.Leu501=)	single nucleotide variant	Uncertain significance	rs752471076	GRCh37	Chromosome 16, 50813940: 50813940
32	CYLD	NM_015247.2(CYLD): c.*837A> G	single nucleotide variant	Benign	rs3743781	GRCh38	Chromosome 16, 50797345: 50797345
33	CYLD	NM_015247.2(CYLD): c.*837A> G	single nucleotide variant	Benign	rs3743781	GRCh37	Chromosome 16, 50831256: 50831256
34	CYLD	NM_015247.2(CYLD): c.*1102G> A	single nucleotide variant	Likely benign	rs141088048	GRCh38	Chromosome 16, 50797610: 50797610
35	CYLD	NM_015247.2(CYLD): c.*1102G> A	single nucleotide variant	Likely benign	rs141088048	GRCh37	Chromosome 16, 50831521: 50831521
36	CYLD	NM_015247.2(CYLD): c.*1245T> C	single nucleotide variant	Likely benign	rs192470603	GRCh38	Chromosome 16, 50797753: 50797753
37	CYLD	NM_015247.2(CYLD): c.*1245T> C	single nucleotide variant	Likely benign	rs192470603	GRCh37	Chromosome 16, 50831664: 50831664
38	CYLD	NM_015247.2(CYLD): c.*1308A> G	single nucleotide variant	Uncertain significance	rs886052054	GRCh38	Chromosome 16, 50797816: 50797816
39	CYLD	NM_015247.2(CYLD): c.*1308A> G	single nucleotide variant	Uncertain significance	rs886052054	GRCh37	Chromosome 16, 50831727: 50831727
40	CYLD	NM_015247.2(CYLD): c.*1575G> A	single nucleotide variant	Likely benign	rs184344245	GRCh38	Chromosome 16, 50798083: 50798083
41	CYLD	NM_015247.2(CYLD): c.*1575G> A	single nucleotide variant	Likely benign	rs184344245	GRCh37	Chromosome 16, 50831994: 50831994
42	CYLD	NM_015247.2(CYLD): c.*1667G> T	single nucleotide variant	Uncertain significance	rs750022206	GRCh37	Chromosome 16, 50832086: 50832086
43	CYLD	NM_015247.2(CYLD): c.*1667G> T	single nucleotide variant	Uncertain significance	rs750022206	GRCh38	Chromosome 16, 50798175: 50798175
44	CYLD	NM_015247.2(CYLD): c.*1746C> T	single nucleotide variant	Uncertain significance	rs886052057	GRCh37	Chromosome 16, 50832165: 50832165
45	CYLD	NM_015247.2(CYLD): c.*1746C> T	single nucleotide variant	Uncertain significance	rs886052057	GRCh38	Chromosome 16, 50798254: 50798254
46	CYLD	NM_015247.2(CYLD): c.*1810A> T	single nucleotide variant	Uncertain significance	rs886052058	GRCh37	Chromosome 16, 50832229: 50832229
47	CYLD	NM_015247.2(CYLD): c.*1810A> T	single nucleotide variant	Uncertain significance	rs886052058	GRCh38	Chromosome 16, 50798318: 50798318
48	CYLD	NM_015247.2(CYLD): c.*2556A> G	single nucleotide variant	Uncertain significance	rs747682326	GRCh37	Chromosome 16, 50832975: 50832975
49	CYLD	NM_015247.2(CYLD): c.*2556A> G	single nucleotide variant	Uncertain significance	rs747682326	GRCh38	Chromosome 16, 50799064: 50799064
50	CYLD	NM_015247.2(CYLD): c.*2975C> T	single nucleotide variant	Uncertain significance	rs886052062	GRCh38	Chromosome 16, 50799483: 50799483
51	CYLD	NM_015247.2(CYLD): c.*2975C> T	single nucleotide variant	Uncertain significance	rs886052062	GRCh37	Chromosome 16, 50833394: 50833394
52	CYLD	NM_015247.2(CYLD): c.*3305A> G	single nucleotide variant	Uncertain significance	rs886052065	GRCh38	Chromosome 16, 50799813: 50799813
53	CYLD	NM_015247.2(CYLD): c.*3305A> G	single nucleotide variant	Uncertain significance	rs886052065	GRCh37	Chromosome 16, 50833724: 50833724
54	CYLD	NM_015247.2(CYLD): c.*3469T> C	single nucleotide variant	Likely benign	rs111951225	GRCh38	Chromosome 16, 50799977: 50799977
55	CYLD	NM_015247.2(CYLD): c.*3469T> C	single nucleotide variant	Likely benign	rs111951225	GRCh37	Chromosome 16, 50833888: 50833888
56	CYLD	NM_015247.2(CYLD): c.*3731C> T	single nucleotide variant	Likely benign	rs551109634	GRCh38	Chromosome 16, 50800239: 50800239
57	CYLD	NM_015247.2(CYLD): c.*3731C> T	single nucleotide variant	Likely benign	rs551109634	GRCh37	Chromosome 16, 50834150: 50834150
58	CYLD	NM_015247.2(CYLD): c.*3739C> G	single nucleotide variant	Likely benign	rs16948836	GRCh38	Chromosome 16, 50800247: 50800247
59	CYLD	NM_015247.2(CYLD): c.*3739C> G	single nucleotide variant	Likely benign	rs16948836	GRCh37	Chromosome 16, 50834158: 50834158
60	CYLD	NM_015247.2(CYLD): c.*4494G> A	single nucleotide variant	Uncertain significance	rs546313281	GRCh38	Chromosome 16, 50801002: 50801002
61	CYLD	NM_015247.2(CYLD): c.*4494G> A	single nucleotide variant	Uncertain significance	rs546313281	GRCh37	Chromosome 16, 50834913: 50834913
62	CYLD	NM_015247.2(CYLD): c.*4567C> T	single nucleotide variant	Likely benign	rs113748745	GRCh38	Chromosome 16, 50801075: 50801075
63	CYLD	NM_015247.2(CYLD): c.*4567C> T	single nucleotide variant	Likely benign	rs113748745	GRCh37	Chromosome 16, 50834986: 50834986
64	CYLD	NM_015247.2(CYLD): c.*4702C> T	single nucleotide variant	Uncertain significance	rs886052070	GRCh38	Chromosome 16, 50801210: 50801210
65	CYLD	NM_015247.2(CYLD): c.*4702C> T	single nucleotide variant	Uncertain significance	rs886052070	GRCh37	Chromosome 16, 50835121: 50835121
66	CYLD	NM_015247.2(CYLD): c.*4841G> A	single nucleotide variant	Uncertain significance	rs886052071	GRCh38	Chromosome 16, 50801349: 50801349
67	CYLD	NM_015247.2(CYLD): c.*4841G> A	single nucleotide variant	Uncertain significance	rs886052071	GRCh37	Chromosome 16, 50835260: 50835260
68	CYLD	NM_015247.2(CYLD): c.*5384A> G	single nucleotide variant	Uncertain significance	rs886052072	GRCh37	Chromosome 16, 50835803: 50835803
69	CYLD	NM_015247.2(CYLD): c.*5384A> G	single nucleotide variant	Uncertain significance	rs886052072	GRCh38	Chromosome 16, 50801892: 50801892
70	CYLD	NM_015247.2(CYLD): c.-366G> C	single nucleotide variant	Uncertain significance	rs886052050	GRCh37	Chromosome 16, 50776010: 50776010
71	CYLD	NM_015247.2(CYLD): c.-366G> C	single nucleotide variant	Uncertain significance	rs886052050	GRCh38	Chromosome 16, 50742099: 50742099
72	CYLD	NM_015247.2(CYLD): c.*47G> A	single nucleotide variant	Likely benign	rs116979331	GRCh38	Chromosome 16, 50796555: 50796555
73	CYLD	NM_015247.2(CYLD): c.*47G> A	single nucleotide variant	Likely benign	rs116979331	GRCh37	Chromosome 16, 50830466: 50830466
74	CYLD	NM_015247.2(CYLD): c.*403T> C	single nucleotide variant	Uncertain significance	rs886052052	GRCh38	Chromosome 16, 50796911: 50796911
75	CYLD	NM_015247.2(CYLD): c.*403T> C	single nucleotide variant	Uncertain significance	rs886052052	GRCh37	Chromosome 16, 50830822: 50830822
76	CYLD	NM_015247.2(CYLD): c.*698T> G	single nucleotide variant	Likely benign	rs541975303	GRCh38	Chromosome 16, 50797206: 50797206
77	CYLD	NM_015247.2(CYLD): c.*698T> G	single nucleotide variant	Likely benign	rs541975303	GRCh37	Chromosome 16, 50831117: 50831117
78	CYLD	NM_015247.2(CYLD): c.*841G> A	single nucleotide variant	Likely benign	rs117537927	GRCh38	Chromosome 16, 50797349: 50797349
79	CYLD	NM_015247.2(CYLD): c.*841G> A	single nucleotide variant	Likely benign	rs117537927	GRCh37	Chromosome 16, 50831260: 50831260
80	CYLD	NM_015247.2(CYLD): c.*1727T> C	single nucleotide variant	Uncertain significance	rs886052056	GRCh37	Chromosome 16, 50832146: 50832146
81	CYLD	NM_015247.2(CYLD): c.*1727T> C	single nucleotide variant	Uncertain significance	rs886052056	GRCh38	Chromosome 16, 50798235: 50798235
82	CYLD	NM_015247.2(CYLD): c.*2305A> T	single nucleotide variant	Likely benign	rs559634329	GRCh37	Chromosome 16, 50832724: 50832724
83	CYLD	NM_015247.2(CYLD): c.*2305A> T	single nucleotide variant	Likely benign	rs559634329	GRCh38	Chromosome 16, 50798813: 50798813
84	CYLD	NM_015247.2(CYLD): c.*2438G> A	single nucleotide variant	Uncertain significance	rs886052061	GRCh37	Chromosome 16, 50832857: 50832857
85	CYLD	NM_015247.2(CYLD): c.*2438G> A	single nucleotide variant	Uncertain significance	rs886052061	GRCh38	Chromosome 16, 50798946: 50798946
86	CYLD	NM_015247.2(CYLD): c.*2615A> G	single nucleotide variant	Likely benign	rs181056407	GRCh37	Chromosome 16, 50833034: 50833034
87	CYLD	NM_015247.2(CYLD): c.*2615A> G	single nucleotide variant	Likely benign	rs181056407	GRCh38	Chromosome 16, 50799123: 50799123
88	CYLD	NM_015247.2(CYLD): c.*3722T> G	single nucleotide variant	Uncertain significance	rs886052067	GRCh38	Chromosome 16, 50800230: 50800230
89	CYLD	NM_015247.2(CYLD): c.*3722T> G	single nucleotide variant	Uncertain significance	rs886052067	GRCh37	Chromosome 16, 50834141: 50834141
90	CYLD	NM_015247.2(CYLD): c.*4561G> A	single nucleotide variant	Benign	rs17314948	GRCh38	Chromosome 16, 50801069: 50801069
91	CYLD	NM_015247.2(CYLD): c.*4561G> A	single nucleotide variant	Benign	rs17314948	GRCh37	Chromosome 16, 50834980: 50834980
92	CYLD	NM_015247.2(CYLD): c.*4691A> G	single nucleotide variant	Uncertain significance	rs886052069	GRCh38	Chromosome 16, 50801199: 50801199
93	CYLD	NM_015247.2(CYLD): c.*4691A> G	single nucleotide variant	Uncertain significance	rs886052069	GRCh37	Chromosome 16, 50835110: 50835110
94	CYLD	NM_015247.2(CYLD): c.4888_4889delAT	deletion	Benign	rs143814807	GRCh37	Chromosome 16, 50835307: 50835308
95	CYLD	NM_015247.2(CYLD): c.4888_4889delAT	deletion	Benign	rs143814807	GRCh38	Chromosome 16, 50801396: 50801397
96	CYLD	NM_015247.2(CYLD): c.59T> G (p.Ile20Ser)	single nucleotide variant	Uncertain significance	rs764097337	GRCh37	Chromosome 16, 50783668: 50783668
97	CYLD	NM_015247.2(CYLD): c.59T> G (p.Ile20Ser)	single nucleotide variant	Uncertain significance	rs764097337	GRCh38	Chromosome 16, 50749757: 50749757
98	CYLD	NM_015247.2(CYLD): c.2145T> C (p.Tyr715=)	single nucleotide variant	Uncertain significance	rs200905032	GRCh38	Chromosome 16, 50791594: 50791594
99	CYLD	NM_015247.2(CYLD): c.2145T> C (p.Tyr715=)	single nucleotide variant	Uncertain significance	rs200905032	GRCh37	Chromosome 16, 50825505: 50825505
100	CYLD	NM_015247.2(CYLD): c.*468A> C	single nucleotide variant	Uncertain significance	rs886052053	GRCh38	Chromosome 16, 50796976: 50796976
101	CYLD	NM_015247.2(CYLD): c.*468A> C	single nucleotide variant	Uncertain significance	rs886052053	GRCh37	Chromosome 16, 50830887: 50830887
102	CYLD	NM_015247.2(CYLD): c.*831C> T	single nucleotide variant	Uncertain significance	rs144877731	GRCh38	Chromosome 16, 50797339: 50797339
103	CYLD	NM_015247.2(CYLD): c.*831C> T	single nucleotide variant	Uncertain significance	rs144877731	GRCh37	Chromosome 16, 50831250: 50831250
104	CYLD	NM_015247.2(CYLD): c.*1341T> G	single nucleotide variant	Likely benign	rs140767609	GRCh38	Chromosome 16, 50797849: 50797849
105	CYLD	NM_015247.2(CYLD): c.*1341T> G	single nucleotide variant	Likely benign	rs140767609	GRCh37	Chromosome 16, 50831760: 50831760
106	CYLD	NM_015247.2(CYLD): c.*1587dupA	duplication	Uncertain significance	rs886052055	GRCh38	Chromosome 16, 50798095: 50798095
107	CYLD	NM_015247.2(CYLD): c.*1587dupA	duplication	Uncertain significance	rs886052055	GRCh37	Chromosome 16, 50832006: 50832006
108	CYLD	NM_015247.2(CYLD): c.*1590T> C	single nucleotide variant	Likely benign	rs528844666	GRCh37	Chromosome 16, 50832009: 50832009
109	CYLD	NM_015247.2(CYLD): c.*1590T> C	single nucleotide variant	Likely benign	rs528844666	GRCh38	Chromosome 16, 50798098: 50798098
110	CYLD	NM_015247.2(CYLD): c.*2150A> G	single nucleotide variant	Likely benign	rs563954578	GRCh37	Chromosome 16, 50832569: 50832569
111	CYLD	NM_015247.2(CYLD): c.*2150A> G	single nucleotide variant	Likely benign	rs563954578	GRCh38	Chromosome 16, 50798658: 50798658
112	CYLD	NM_015247.2(CYLD): c.*2646G> A	single nucleotide variant	Likely benign	rs563329143	GRCh38	Chromosome 16, 50799154: 50799154
113	CYLD	NM_015247.2(CYLD): c.*2646G> A	single nucleotide variant	Likely benign	rs563329143	GRCh37	Chromosome 16, 50833065: 50833065
114	CYLD	NM_015247.2(CYLD): c.*3000C> G	single nucleotide variant	Uncertain significance	rs886052063	GRCh38	Chromosome 16, 50799508: 50799508
115	CYLD	NM_015247.2(CYLD): c.*3000C> G	single nucleotide variant	Uncertain significance	rs886052063	GRCh37	Chromosome 16, 50833419: 50833419
116	CYLD	NM_015247.2(CYLD): c.*3070A> G	single nucleotide variant	Likely benign	rs144667145	GRCh38	Chromosome 16, 50799578: 50799578
117	CYLD	NM_015247.2(CYLD): c.*3070A> G	single nucleotide variant	Likely benign	rs144667145	GRCh37	Chromosome 16, 50833489: 50833489
118	CYLD	NM_015247.2(CYLD): c.*3229C> T	single nucleotide variant	Uncertain significance	rs752862278	GRCh38	Chromosome 16, 50799737: 50799737
119	CYLD	NM_015247.2(CYLD): c.*3229C> T	single nucleotide variant	Uncertain significance	rs752862278	GRCh37	Chromosome 16, 50833648: 50833648
120	CYLD	NM_015247.2(CYLD): c.*3384G> A	single nucleotide variant	Uncertain significance	rs886052066	GRCh38	Chromosome 16, 50799892: 50799892
121	CYLD	NM_015247.2(CYLD): c.*3384G> A	single nucleotide variant	Uncertain significance	rs886052066	GRCh37	Chromosome 16, 50833803: 50833803
122	CYLD	NM_015247.2(CYLD): c.*3614C> A	single nucleotide variant	Likely benign	rs372370285	GRCh38	Chromosome 16, 50800122: 50800122
123	CYLD	NM_015247.2(CYLD): c.*3614C> A	single nucleotide variant	Likely benign	rs372370285	GRCh37	Chromosome 16, 50834033: 50834033
124	CYLD	NM_015247.2(CYLD): c.*3736G> A	single nucleotide variant	Likely benign	rs567662515	GRCh38	Chromosome 16, 50800244: 50800244
125	CYLD	NM_015247.2(CYLD): c.*3736G> A	single nucleotide variant	Likely benign	rs567662515	GRCh37	Chromosome 16, 50834155: 50834155
126	CYLD	NM_015247.2(CYLD): c.*4388C> T	single nucleotide variant	Uncertain significance	rs781004605	GRCh38	Chromosome 16, 50800896: 50800896
127	CYLD	NM_015247.2(CYLD): c.*4388C> T	single nucleotide variant	Uncertain significance	rs781004605	GRCh37	Chromosome 16, 50834807: 50834807
128	CYLD	NM_015247.2(CYLD): c.*4470C> A	single nucleotide variant	Uncertain significance	rs755710819	GRCh38	Chromosome 16, 50800978: 50800978
129	CYLD	NM_015247.2(CYLD): c.*4470C> A	single nucleotide variant	Uncertain significance	rs755710819	GRCh37	Chromosome 16, 50834889: 50834889
130	CYLD	NM_015247.2(CYLD): c.*4947G> A	single nucleotide variant	Likely benign	rs567438576	GRCh37	Chromosome 16, 50835366: 50835366
131	CYLD	NM_015247.2(CYLD): c.*4947G> A	single nucleotide variant	Likely benign	rs567438576	GRCh38	Chromosome 16, 50801455: 50801455
132	CYLD	NM_015247.2(CYLD): c.*5086A> G	single nucleotide variant	Likely benign	rs572929759	GRCh37	Chromosome 16, 50835505: 50835505
133	CYLD	NM_015247.2(CYLD): c.*5086A> G	single nucleotide variant	Likely benign	rs572929759	GRCh38	Chromosome 16, 50801594: 50801594
134	CYLD	NM_015247.2(CYLD): c.*5272C> T	single nucleotide variant	Likely benign	rs140875917	GRCh37	Chromosome 16, 50835691: 50835691
135	CYLD	NM_015247.2(CYLD): c.*5272C> T	single nucleotide variant	Likely benign	rs140875917	GRCh38	Chromosome 16, 50801780: 50801780
136	CYLD	NM_015247.2(CYLD): c.126G> A (p.Pro42=)	single nucleotide variant	Likely benign	rs202119806	GRCh38	Chromosome 16, 50749824: 50749824
137	CYLD	NM_015247.2(CYLD): c.126G> A (p.Pro42=)	single nucleotide variant	Likely benign	rs202119806	GRCh37	Chromosome 16, 50783735: 50783735
138	CYLD	NM_015247.2(CYLD): c.543C> T (p.Tyr181=)	single nucleotide variant	Uncertain significance	rs752294416	GRCh38	Chromosome 16, 50751642: 50751642
139	CYLD	NM_015247.2(CYLD): c.543C> T (p.Tyr181=)	single nucleotide variant	Uncertain significance	rs752294416	GRCh37	Chromosome 16, 50785553: 50785553
140	CYLD	NM_015247.2(CYLD): c.922+9C> A	single nucleotide variant	Likely benign	rs528253971	GRCh38	Chromosome 16, 50775183: 50775183
141	CYLD	NM_015247.2(CYLD): c.922+9C> A	single nucleotide variant	Likely benign	rs528253971	GRCh37	Chromosome 16, 50809094: 50809094
142	CYLD	NM_015247.2(CYLD): c.1166C> G (p.Thr389Arg)	single nucleotide variant	Uncertain significance	rs200759332	GRCh38	Chromosome 16, 50779692: 50779692
143	CYLD	NM_015247.2(CYLD): c.1166C> G (p.Thr389Arg)	single nucleotide variant	Uncertain significance	rs200759332	GRCh37	Chromosome 16, 50813603: 50813603
144	CYLD	NM_015247.2(CYLD): c.2109-10G> A	single nucleotide variant	Benign	rs11865799	GRCh38	Chromosome 16, 50791548: 50791548
145	CYLD	NM_015247.2(CYLD): c.2109-10G> A	single nucleotide variant	Benign	rs11865799	GRCh37	Chromosome 16, 50825459: 50825459
146	CYLD	NM_015247.2(CYLD): c.2319G> A (p.Leu773=)	single nucleotide variant	Likely benign	rs199912760	GRCh38	Chromosome 16, 50792674: 50792674
147	CYLD	NM_015247.2(CYLD): c.2319G> A (p.Leu773=)	single nucleotide variant	Likely benign	rs199912760	GRCh37	Chromosome 16, 50826585: 50826585
148	CYLD	NM_015247.2(CYLD): c.2412C> T (p.Asp804=)	single nucleotide variant	Benign	rs2066852	GRCh38	Chromosome 16, 50793607: 50793607
149	CYLD	NM_015247.2(CYLD): c.2412C> T (p.Asp804=)	single nucleotide variant	Benign	rs2066852	GRCh37	Chromosome 16, 50827518: 50827518
150	CYLD	NM_015247.2(CYLD): c.2465C> T (p.Thr822Ile)	single nucleotide variant	Uncertain significance	rs775394735	GRCh38	Chromosome 16, 50793660: 50793660
151	CYLD	NM_015247.2(CYLD): c.2465C> T (p.Thr822Ile)	single nucleotide variant	Uncertain significance	rs775394735	GRCh37	Chromosome 16, 50827571: 50827571
152	CYLD	NM_015247.2(CYLD): c.*382T> C	single nucleotide variant	Likely benign	rs142580891	GRCh38	Chromosome 16, 50796890: 50796890
153	CYLD	NM_015247.2(CYLD): c.*382T> C	single nucleotide variant	Likely benign	rs142580891	GRCh37	Chromosome 16, 50830801: 50830801
154	CYLD	NM_015247.2(CYLD): c.*779G> A	single nucleotide variant	Likely benign	rs190787930	GRCh38	Chromosome 16, 50797287: 50797287
155	CYLD	NM_015247.2(CYLD): c.*779G> A	single nucleotide variant	Likely benign	rs190787930	GRCh37	Chromosome 16, 50831198: 50831198
156	CYLD	NM_015247.2(CYLD): c.*1831G> A	single nucleotide variant	Likely benign	rs181246559	GRCh37	Chromosome 16, 50832250: 50832250
157	CYLD	NM_015247.2(CYLD): c.*1831G> A	single nucleotide variant	Likely benign	rs181246559	GRCh38	Chromosome 16, 50798339: 50798339
158	CYLD	NM_015247.2(CYLD): c.*1983T> C	single nucleotide variant	Uncertain significance	rs867027657	GRCh37	Chromosome 16, 50832402: 50832402
159	CYLD	NM_015247.2(CYLD): c.*1983T> C	single nucleotide variant	Uncertain significance	rs867027657	GRCh38	Chromosome 16, 50798491: 50798491
160	CYLD	NM_015247.2(CYLD): c.2121_2122delAA	deletion	Uncertain significance	rs74757288	GRCh37	Chromosome 16, 50832540: 50832541
161	CYLD	NM_015247.2(CYLD): c.2121_2122delAA	deletion	Uncertain significance	rs74757288	GRCh38	Chromosome 16, 50798629: 50798630
162	CYLD	NM_015247.2(CYLD): c.*2122delA	deletion	Benign	rs74757288	GRCh37	Chromosome 16, 50832541: 50832541
163	CYLD	NM_015247.2(CYLD): c.*2122delA	deletion	Benign	rs74757288	GRCh38	Chromosome 16, 50798630: 50798630
164	CYLD	NM_015247.2(CYLD): c.*2236C> T	single nucleotide variant	Likely benign	rs57638820	GRCh37	Chromosome 16, 50832655: 50832655
165	CYLD	NM_015247.2(CYLD): c.*2236C> T	single nucleotide variant	Likely benign	rs57638820	GRCh38	Chromosome 16, 50798744: 50798744
166	CYLD	NM_015247.2(CYLD): c.*2335T> C	single nucleotide variant	Likely benign	rs9646285	GRCh37	Chromosome 16, 50832754: 50832754
167	CYLD	NM_015247.2(CYLD): c.*2335T> C	single nucleotide variant	Likely benign	rs9646285	GRCh38	Chromosome 16, 50798843: 50798843
168	CYLD	NM_015247.2(CYLD): c.*2369G> A	single nucleotide variant	Likely benign	rs16948829	GRCh37	Chromosome 16, 50832788: 50832788
169	CYLD	NM_015247.2(CYLD): c.*2369G> A	single nucleotide variant	Likely benign	rs16948829	GRCh38	Chromosome 16, 50798877: 50798877
170	CYLD	NM_015247.2(CYLD): c.*2710C> T	single nucleotide variant	Likely benign	rs141928186	GRCh38	Chromosome 16, 50799218: 50799218
171	CYLD	NM_015247.2(CYLD): c.*2710C> T	single nucleotide variant	Likely benign	rs141928186	GRCh37	Chromosome 16, 50833129: 50833129
172	CYLD	NM_015247.2(CYLD): c.*2856T> C	single nucleotide variant	Uncertain significance	rs778856255	GRCh38	Chromosome 16, 50799364: 50799364
173	CYLD	NM_015247.2(CYLD): c.*2856T> C	single nucleotide variant	Uncertain significance	rs778856255	GRCh37	Chromosome 16, 50833275: 50833275
174	CYLD	NM_015247.2(CYLD): c.*3119delT	deletion	Uncertain significance	rs149875014	GRCh38	Chromosome 16, 50799627: 50799627
175	CYLD	NM_015247.2(CYLD): c.*3119delT	deletion	Uncertain significance	rs149875014	GRCh37	Chromosome 16, 50833538: 50833538
176	CYLD	NM_015247.2(CYLD): c.*3148T> C	single nucleotide variant	Uncertain significance	rs555603514	GRCh38	Chromosome 16, 50799656: 50799656
177	CYLD	NM_015247.2(CYLD): c.*3148T> C	single nucleotide variant	Uncertain significance	rs555603514	GRCh37	Chromosome 16, 50833567: 50833567
178	CYLD	NM_015247.2(CYLD): c.*3679T> C	single nucleotide variant	Likely benign	rs141888517	GRCh38	Chromosome 16, 50800187: 50800187
179	CYLD	NM_015247.2(CYLD): c.*3679T> C	single nucleotide variant	Likely benign	rs141888517	GRCh37	Chromosome 16, 50834098: 50834098
180	CYLD	NM_015247.2(CYLD): c.*4485G> C	single nucleotide variant	Uncertain significance	rs886052068	GRCh38	Chromosome 16, 50800993: 50800993
181	CYLD	NM_015247.2(CYLD): c.*4485G> C	single nucleotide variant	Uncertain significance	rs886052068	GRCh37	Chromosome 16, 50834904: 50834904
182	CYLD	NM_015247.2(CYLD): c.*4885A> T	single nucleotide variant	Likely benign	rs184571054	GRCh38	Chromosome 16, 50801393: 50801393
183	CYLD	NM_015247.2(CYLD): c.*4885A> T	single nucleotide variant	Likely benign	rs184571054	GRCh37	Chromosome 16, 50835304: 50835304

Cosmic variations for Brooke-Spiegler Syndrome:

⁹ (showing 1155, 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	COSM6926860	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.5825G>A	p.G1942E	16:72796857-72796857	0
2	COSM6969201	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.11050G>A	p.D3684N	16:72787226-72787226	0
3	COSM6953811	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.1991C>T	p.S664F	16:72958155-72958155	0
4	COSM6926862	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.1261G>A	p.G421R	16:72958885-72958885	0
5	COSM6936924	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.10847C>T	p.S3616F	16:72787429-72787429	0
6	COSM3691166	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.2084C>T	p.P695L	16:72958062-72958062	0
7	COSM6926861	ZFHX3	skin,NS,carcinoma,basal cell carcinoma	c.1655C>T	p.S552F	16:72958491-72958491	0
8	COSM212945	XPO1	skin,NS,carcinoma,basal cell carcinoma	c.782G>A	p.R261Q	2:61496985-61496985	0
9	COSM1658946	VWA5B1	salivary gland,parotid,carcinoma,NS	c.1486G>A	p.V496I	1:20330897-20330897	0
10	COSM5030964	VHL	salivary gland,parotid,carcinoma,NS	c.319C>T	p.R107C	3:10142166-10142166	0
11	COSM1659032	TXNRD3	salivary gland,parotid,carcinoma,NS	c.412A>G	p.K138E	3:126647293-126647293	0
12	COSM6936922	TSC2	skin,NS,carcinoma,basal cell carcinoma	c.2060C>T	p.S687F	16:2071897-2071897	0
13	COSM6926855	TSC2	skin,NS,carcinoma,basal cell carcinoma	c.679T>A	p.C227S	16:2056674-2056674	0
14	COSM6953809	TSC2	skin,NS,carcinoma,basal cell carcinoma	c.869C>T	p.P290L	16:2058767-2058767	0
15	COSM6912933	TRAF7	skin,NS,carcinoma,basal cell carcinoma	c.1802C>T	p.T601I	16:2176104-2176104	0
16	COSM6949578	TP63	skin,NS,carcinoma,basal cell carcinoma	c.1922C>T	p.A641V	3:189894381-189894381	0
17	COSM44071	TP53	skin,NS,carcinoma,basal cell carcinoma	c.955A>G	p.K319E	17:7673573-7673573	0
18	COSM44097	TP53	skin,face,carcinoma,basal cell carcinoma	c.530C>T	p.P177L	17:7675082-7675082	0
19	COSM10812	TP53	skin,NS,carcinoma,basal cell carcinoma	c.722C>T	p.S241F	17:7674241-7674241	0
20	COSM10988	TP53	skin,NS,carcinoma,basal cell carcinoma	c.772G>A	p.E258K	17:7674191-7674191	0
21	COSM45074	TP53	skin,NS,carcinoma,basal cell carcinoma	c.829T>G	p.C277G	17:7673791-7673791	0
22	COSM10728	TP53	skin,NS,carcinoma,basal cell carcinoma	c.839G>A	p.R280K	17:7673781-7673781	0
23	COSM45739	TP53	skin,NS,carcinoma,basal cell carcinoma	c.677G>C	p.G226A	17:7674286-7674286	0
24	COSM10654	TP53	salivary gland,parotid,carcinoma,NS	c.637C>T	p.R213*	17:7674894-7674894	0
25	COSM10705	TP53	skin,face,carcinoma,NS	c.586C>T	p.R196*	17:7674945-7674945	0
26	COSM5030953	TP53	salivary gland,parotid,carcinoma,NS	c.38C>T	p.P13L	17:7676557-7676557	0
27	COSM44295	TP53	skin,face,carcinoma,basal cell carcinoma	c.993+1G>A	p.?	17:7673534-7673534	0
28	COSM10939	TP53	skin,face,carcinoma,basal cell carcinoma	c.832C>T	p.P278S	17:7673788-7673788	0
29	COSM43544	TP53	skin,face,carcinoma,NS	c.260C>A	p.P87Q	17:7676109-7676109	0
30	COSM10650	TP53	skin,NS,carcinoma,basal cell carcinoma	c.529C>T	p.P177S	17:7675083-7675083	0
31	COSM44326	TP53	skin,face,carcinoma,NS	c.706T>C	p.Y236H	17:7674257-7674257	0
32	COSM10662	TP53	skin,face,carcinoma,basal cell carcinoma	c.743G>A	p.R248Q	17:7674220-7674220	0
33	COSM43665	TP53	skin,NS,carcinoma,basal cell carcinoma	c.746G>C	p.R249T	17:7674217-7674217	0
34	COSM43632	TP53	salivary gland,parotid,carcinoma,NS	c.493C>T	p.Q165*	17:7675119-7675119	0
35	COSM45774	TP53	skin,NS,carcinoma,basal cell carcinoma	c.899C>G	p.P300R	17:7673721-7673721	0
36	COSM10749	TP53	skin,NS,carcinoma,basal cell carcinoma	c.830G>T	p.C277F	17:7673790-7673790	0
37	COSM11305	TP53	salivary gland,parotid,carcinoma,NS	c.809T>C	p.F270S	17:7673811-7673811	0
38	COSM10660	TP53	skin,NS,carcinoma,basal cell carcinoma	c.818G>A	p.R273H	17:7673802-7673802	0
39	COSM11449	TP53	skin,face,carcinoma,basal cell carcinoma	c.388C>T	p.L130F	17:7675224-7675224	0
40	COSM44640	TP53	salivary gland,parotid,carcinoma,NS	c.782+1G>T	p.?	17:7674180-7674180	0
41	COSM10771	TP53	skin,NS,carcinoma,basal cell carcinoma	c.749C>T	p.P250L	17:7674214-7674214	0
42	COSM44068	TP53	skin,face,carcinoma,basal cell carcinoma	c.532C>A	p.H178N	17:7675080-7675080	0
43	COSM11152	TP53	skin,NS,carcinoma,basal cell carcinoma	c.700T>C	p.Y234H	17:7674263-7674263	0
44	COSM45307	TP53	salivary gland,parotid,carcinoma,NS	c.309C>A	p.Y103*	17:7676060-7676060	0
45	COSM10768	TP53	skin,NS,carcinoma,basal cell carcinoma	c.535C>T	p.H179Y	17:7675077-7675077	0
46	COSM45834	TP53	skin,NS,carcinoma,basal cell carcinoma	c.409C>A	p.L137M	17:7675203-7675203	0
47	COSM10905	TP53	skin,NS,carcinoma,basal cell carcinoma	c.451C>T	p.P151S	17:7675161-7675161	0
48	COSM6932	TP53	skin,NS,carcinoma,basal cell carcinoma	c.733G>A	p.G245S	17:7674230-7674230	0
49	COSM10648	TP53	skin,NS,carcinoma,basal cell carcinoma	c.524G>A	p.R175H	17:7675088-7675088	0
50	COSM45424	TP53	skin,NS,carcinoma,basal cell carcinoma	c.781A>T	p.S261C	17:7674182-7674182	0
51	COSM10656	TP53	skin,face,carcinoma,NS	c.742C>T	p.R248W	17:7674221-7674221	0
52	COSM10659	TP53	skin,NS,carcinoma,basal cell carcinoma	c.817C>T	p.R273C	17:7673803-7673803	0
53	COSM10794	TP53	skin,NS,carcinoma,basal cell carcinoma	c.796G>A	p.G266R	17:7673824-7673824	0
54	COSM43582	TP53	skin,NS,carcinoma,basal cell carcinoma	c.454C>T	p.P152S	17:7675158-7675158	0
55	COSM10704	TP53	skin,NS,carcinoma,basal cell carcinoma	c.844C>T	p.R282W	17:7673776-7673776	0
56	COSM45830	TP53	skin,face,carcinoma,NS	c.766A>C	p.T256P	17:7674197-7674197	0
57	COSM43687	TP53	salivary gland,parotid,carcinoma,NS	c.641A>G	p.H214R	17:7674890-7674890	0
58	COSM6549	TP53	skin,NS,carcinoma,basal cell carcinoma	c.743G>T	p.R248L	17:7674220-7674220	0
59	COSM10726	TP53	skin,face,carcinoma,basal cell carcinoma	c.856G>A	p.E286K	17:7673764-7673764	0
60	COSM45304	TP53	skin,NS,carcinoma,basal cell carcinoma	c.375+1G>A	p.?	17:7675993-7675993	0
61	COSM10867	TP53	skin,NS,carcinoma,basal cell carcinoma	c.797G>A	p.G266E	17:7673823-7673823	0
62	COSM11196	TP53	salivary gland,parotid,carcinoma,NS	c.734G>T	p.G245V	17:7674229-7674229	0
63	COSM43714	TP53	skin,NS,carcinoma,basal cell carcinoma	c.836G>A	p.G279E	17:7673784-7673784	0
64	COSM44226	TP53	skin,NS,carcinoma,basal cell carcinoma	c.380C>T	p.S127F	17:7675232-7675232	0
65	COSM10995	TP53	skin,NS,carcinoma,basal cell carcinoma	c.580C>T	p.L194F	17:7674951-7674951	0
66	COSM43814	TP53	salivary gland,parotid,carcinoma,NS	c.587G>C	p.R196P	17:7674944-7674944	0
67	COSM45322	TP53	skin,NS,carcinoma,basal cell carcinoma	c.757A>G	p.T253A	17:7674206-7674206	0
68	COSM10992	TP53	skin,face,carcinoma,basal cell carcinoma	c.844C>G	p.R282G	17:7673776-7673776	0
69	COSM43592	TP53	skin,NS,carcinoma,basal cell carcinoma	c.395A>T	p.K132M	17:7675217-7675217	0
70	COSM43702	TP53	skin,NS,carcinoma,basal cell carcinoma	c.571C>T	p.P191S	17:7674960-7674960	0
71	COSM43596	TP53	salivary gland,parotid,carcinoma,NS	c.841G>A	p.D281N	17:7673779-7673779	0
72	COSM44398	TP53	skin,NS,carcinoma,basal cell carcinoma	c.682G>A	p.D228N	17:7674281-7674281	0
73	COSM43588	TP53	skin,face,carcinoma,NS	c.740A>C	p.N247T	17:7674223-7674223	0
74	COSM43663	TP53	skin,NS,carcinoma,basal cell carcinoma	c.826G>C	p.A276P	17:7673794-7673794	0
75	COSM44120	TP53	skin,NS,carcinoma,basal cell carcinoma	c.532C>T	p.H178Y	17:7675080-7675080	0
76	COSM11081	TP53	skin,face,carcinoma,NS	c.733G>T	p.G245C	17:7674230-7674230	0
77	COSM11073	TP53	skin,NS,carcinoma,basal cell carcinoma	c.1024C>T	p.R342*	17:7670685-7670685	0
78	COSM44603	TP53	skin,NS,carcinoma,basal cell carcinoma	c.835G>A	p.G279R	17:7673785-7673785	0
79	COSM43918	TP53	salivary gland,parotid,carcinoma,NS	c.809T>A	p.F270Y	17:7673811-7673811	0
80	COSM45733	TP53	skin,face,carcinoma,basal cell carcinoma	c.432G>A	p.Q144Q	17:7675180-7675180	0
81	COSM45732	TP53	skin,NS,carcinoma,basal cell carcinoma	c.480G>C	p.M160I	17:7675132-7675132	0
82	COSM12296	TP53	skin,NS,carcinoma,basal cell carcinoma	c.292C>T	p.P98S	17:7676077-7676077	0
83	COSM43700	TP53	skin,face,carcinoma,basal cell carcinoma	c.712T>A	p.C238S	17:7674251-7674251	0
84	COSM10886	TP53	salivary gland,parotid,carcinoma,NS	c.310C>T	p.Q104*	17:7676059-7676059	0
85	COSM10863	TP53	skin,NS,carcinoma,basal cell carcinoma	c.833C>T	p.P278L	17:7673787-7673787	0
86	COSM10733	TP53	skin,face,carcinoma,NS	c.574C>T	p.Q192*	17:7674957-7674957	0
87	COSM44227	TP53	skin,face,carcinoma,basal cell carcinoma	c.854A>T	p.E285V	17:7673766-7673766	0
88	COSM10690	TP53	salivary gland,parotid,carcinoma,NS	c.473G>A	p.R158H	17:7675139-7675139	0
89	COSM44126	TP53	skin,NS,carcinoma,basal cell carcinoma	c.507G>A	p.M169I	17:7675105-7675105	0
90	COSM46283	TP53	salivary gland,parotid,carcinoma,NS	c.569C>A	p.P190H	17:7674962-7674962	0
91	COSM12013	TP53	salivary gland,parotid,carcinoma,NS	c.731G>C	p.G244A	17:7674232-7674232	0
92	COSM10646	TP53	salivary gland,parotid,carcinoma,NS	c.725G>A	p.C242Y	17:7674238-7674238	0
93	COSM43651	TP53	skin,face,carcinoma,NS	c.763A>T	p.I255F	17:7674200-7674200	0
94	COSM44435	TP53	skin,face,carcinoma,basal cell carcinoma	c.96+1G>A	p.?	17:7676381-7676381	0
95	COSM43635	TP53	skin,NS,carcinoma,basal cell carcinoma	c.536A>T	p.H179L	17:7675076-7675076	0
96	COSM43920	TP53	skin,face,carcinoma,basal cell carcinoma	c.680C>T	p.S227F	17:7674283-7674283	0
97	COSM44436	TP53	skin,face,carcinoma,basal cell carcinoma	c.375+2T>C	p.?	17:7675992-7675992	0
98	COSM43837	TP53	skin,NS,carcinoma,basal cell carcinoma	c.843C>G	p.D281E	17:7673777-7673777	0
99	COSM44094	TP53	salivary gland,parotid,carcinoma,NS	c.716A>G	p.N239S	17:7674247-7674247	0
100	COSM43797	TP53	salivary gland,parotid,carcinoma,NS	c.550G>C	p.D184H	17:7675062-7675062	0
101	COSM45734	TP53	skin,NS,carcinoma,basal cell carcinoma	c.622G>T	p.D208Y	17:7674909-7674909	0
102	COSM44096	TP53	skin,NS,carcinoma,basal cell carcinoma	c.748C>G	p.P250A	17:7674215-7674215	0
103	COSM43616	TP53	skin,NS,carcinoma,basal cell carcinoma	c.704A>G	p.N235S	17:7674259-7674259	0
104	COSM44310	TP53	skin,NS,carcinoma,basal cell carcinoma	c.738G>A	p.M246I	17:7674225-7674225	0
105	COSM11084	TP53	skin,face,carcinoma,basal cell carcinoma	c.517G>A	p.V173M	17:7675095-7675095	0
106	COSM46282	TP53	salivary gland,parotid,carcinoma,NS	c.501G>C	p.Q167H	17:7675111-7675111	0
107	COSM10779	TP53	salivary gland,parotid,carcinoma,NS	c.818G>T	p.R273L	17:7673802-7673802	0
108	COSM44853	TP53	salivary gland,parotid,carcinoma,NS	c.661G>A	p.E221K	17:7674870-7674870	0
109	COSM11059	TP53	salivary gland,parotid,carcinoma,NS	c.713G>A	p.C238Y	17:7674250-7674250	0
110	COSM43742	TP53	skin,face,carcinoma,basal cell carcinoma	c.419C>T	p.T140I	17:7675193-7675193	0
111	COSM45751	TP53	skin,NS,carcinoma,basal cell carcinoma	c.511G>C	p.E171Q	17:7675101-7675101	0
112	COSM10887	TP53	skin,face,carcinoma,basal cell carcinoma	c.833C>G	p.P278R	17:7673787-7673787	0
113	COSM12193	TP53	salivary gland,parotid,carcinoma,NS	c.668C>T	p.P223L	17:7674863-7674863	0
114	COSM44241	TP53	skin,face,carcinoma,basal cell carcinoma	c.592G>T	p.E198*	17:7674939-7674939	0
115	COSM43778	TP53	skin,NS,carcinoma,basal cell carcinoma	c.713G>T	p.C238F	17:7674250-7674250	0
116	COSM44130	TP53	skin,NS,carcinoma,basal cell carcinoma	c.477C>T	p.A159A	17:7675135-7675135	0
117	COSM5030954	TP53	salivary gland,parotid,carcinoma,NS	c.260C>T	p.P87L	17:7676109-7676109	0
118	COSM43695	TP53	skin,NS,carcinoma,basal cell carcinoma	c.748C>T	p.P250S	17:7674215-7674215	0
119	COSM43842	TP53	skin,NS,carcinoma,basal cell carcinoma	c.770T>C	p.L257P	17:7674193-7674193	0
120	COSM45169	TP53	skin,NS,carcinoma,basal cell carcinoma	c.326T>C	p.F109S	17:7676043-7676043	0
121	COSM11376	TP53	skin,NS,carcinoma,basal cell carcinoma	c.737T>G	p.M246R	17:7674226-7674226	0
122	COSM10758	TP53	salivary gland,parotid,carcinoma,NS	c.659A>G	p.Y220C	17:7674872-7674872	0
123	COSM43583	TP53	skin,NS,carcinoma,basal cell carcinoma	c.425C>T	p.P142L	17:7675187-7675187	0
124	COSM44606	TP53	skin,NS,carcinoma,basal cell carcinoma	c.665C>T	p.P222L	17:7674866-7674866	0
125	COSM45138	TP53	skin,NS,carcinoma,basal cell carcinoma	c.853G>C	p.E285Q	17:7673767-7673767	0
126	COSM45677	TP53	skin,face,carcinoma,NS	c.714T>A	p.C238*	17:7674249-7674249	0
127	COSM11564	TP53	salivary gland,parotid,carcinoma,NS	c.742C>G	p.R248G	17:7674221-7674221	0
128	COSM44850	TP53	salivary gland,parotid,carcinoma,NS	c.494A>T	p.Q165L	17:7675118-7675118	0
129	COSM44552	TP53	skin,face,carcinoma,basal cell carcinoma	c.509C>T	p.T170M	17:7675103-7675103	0
130	COSM1659070	TOMM34	salivary gland,parotid,carcinoma,NS	c.555T>A	p.P185P	20:44948873-44948873	0
131	COSM34221	TIE1	salivary gland,parotid,carcinoma,NS	c.2050G>C	p.A684P	1:43313257-43313257	0
132	COSM6927532	TGFBR1	skin,NS,carcinoma,basal cell carcinoma	c.1255G>A	p.G419R	9:99146609-99146609	0
133	COSM199708	TGFBR1	skin,NS,carcinoma,basal cell carcinoma	c.1459C>T	p.R487W	9:99149252-99149252	0
134	COSM607136	TGFBR1	skin,neck,carcinoma,NS	c.1247C>T	p.S416F	9:99146601-99146601	0
135	COSM166291	TET2	skin,NS,carcinoma,basal cell carcinoma	c.5681C>T	p.P1894L	4:105276191-105276191	0
136	COSM6982985	TET2	salivary gland,parotid,carcinoma,NS	c.650C>T	p.S217F	4:105234592-105234592	0
137	COSM3472000	TENT5C	skin,NS,carcinoma,basal cell carcinoma	c.1001C>T	p.S334F	1:117623869-117623869	0
138	COSM6975881	TCF7L2	salivary gland,parotid,carcinoma,NS	c.814C>T	p.P272S	10:113151005-113151005	0
139	COSM6926867	TCF3	skin,NS,carcinoma,basal cell carcinoma	c.416C>T	p.S139F	19:1625659-1625659	0
140	COSM6912931	TBX3	skin,NS,carcinoma,basal cell carcinoma	c.45G>A	p.M15I	12:114683156-114683156	0
141	COSM1658982	TANGO6	salivary gland,parotid,carcinoma,NS	c.352G>C	p.G118R	16:68907540-68907540	0
142	COSM13233	SUFU	skin,face,carcinoma,basal cell carcinoma	c.591C>T	p.F197F	10:102592718-102592718	0
143	COSM13234	SUFU	skin,face,carcinoma,basal cell carcinoma	c.560C>T	p.P187L	10:102592687-102592687	0
144	COSM1658977	STXBP3	salivary gland,parotid,carcinoma,NS	c.1275G>C	p.R425S	1:108796645-108796645	0
145	COSM51520	STK11	skin,NS,carcinoma,basal cell carcinoma	c.536C>T	p.P179L	19:1220444-1220444	0
146	COSM6926864	STAT5B	skin,NS,carcinoma,basal cell carcinoma	c.2347C>T	p.P783S	17:42201755-42201755	0
147	COSM1716826	STAT5B	skin,NS,carcinoma,basal cell carcinoma	c.1697G>A	p.R566Q	17:42210481-42210481	0
148	COSM6906905	STAT5B	salivary gland,parotid,carcinoma,NS	c.1982G>A	p.G661E	17:42207653-42207653	0
149	COSM1716827	STAT5B	skin,NS,carcinoma,basal cell carcinoma	c.2207C>T	p.P736L	17:42202370-42202370	0
150	COSM6936926	STAT5A	skin,NS,carcinoma,basal cell carcinoma	c.286-1G>A	p.?	17:42291971-42291971	0
151	COSM6975971	STAT5A	salivary gland,parotid,carcinoma,NS	c.1484C>T	p.P495L	17:42306251-42306251	0
152	COSM6936928	STAT3	skin,NS,carcinoma,basal cell carcinoma	c.1286C>T	p.S429F	17:42326195-42326195	0
153	COSM6926758	SPEN	skin,NS,carcinoma,basal cell carcinoma	c.8389C>T	p.P2797S	1:15934629-15934629	0
154	COSM6926757	SPEN	skin,NS,carcinoma,basal cell carcinoma	c.1294T>A	p.F432I	1:15916178-15916178	0
155	COSM3942016	SMO	skin,face,carcinoma,basal cell carcinoma	c.1376C>T	p.A459V	7:129209307-129209307	0
156	COSM13145	SMO	skin,face,carcinoma,basal cell carcinoma	c.595C>T	p.R199W	7:129205260-129205260	0
157	COSM216037	SMO	skin,face,carcinoma,basal cell carcinoma	c.1234C>T	p.L412F	7:129206557-129206557	0
158	COSM3942015	SMO	skin,NS,carcinoma,basal cell carcinoma	c.961G>A	p.V321M	7:129206190-129206190	0
159	COSM13146	SMO	skin,NS,carcinoma,basal cell carcinoma	c.1604G>T	p.W535L	7:129210500-129210500	0
160	COSM5731073	SMO	skin,NS,carcinoma,basal cell carcinoma	c.842G>T	p.W281L	7:129205704-129205704	0
161	COSM6962965	SMO	skin,neck,carcinoma,NS	c.1103C>T	p.P368L	7:129206332-129206332	0
162	COSM4413609	SMO	skin,NS,carcinoma,basal cell carcinoma	c.1489G>T	p.G497W	7:129210385-129210385	0
163	COSM5775414	SMO	skin,NS,carcinoma,basal cell carcinoma	c.1222A>G	p.I408V	7:129206545-129206545	0
164	COSM13144	SMO	skin,face,carcinoma,basal cell carcinoma	c.1598G>A	p.S533N	7:129210494-129210494	0
165	COSM6909694	SMO	skin,NS,carcinoma,basal cell carcinoma	c.998T>G	p.V333G	7:129206227-129206227	0
166	COSM13152	SMO	skin,NS,carcinoma,basal cell carcinoma	c.1685G>A	p.R562Q	7:129210997-129210997	0
167	COSM13240	SMO	skin,face,carcinoma,basal cell carcinoma	c.1955C>T	p.A652V	7:129212042-129212042	0
168	COSM4413608	SMO	skin,NS,carcinoma,basal cell carcinoma	c.1417G>T	p.D473Y	7:129209348-129209348	0
169	COSM6951263	SMARCD1	skin,NS,carcinoma,basal cell carcinoma	c.422G>A	p.R141Q	12:50087370-50087370	0
170	COSM6912944	SMARCA4	skin,NS,carcinoma,basal cell carcinoma	c.512C>T	p.P171L	19:10986345-10986345	0
171	COSM6951276	SMARCA4	skin,NS,carcinoma,basal cell carcinoma	c.170C>T	p.P57L	19:10984321-10984321	0
172	COSM6912942	SMARCA4	skin,NS,carcinoma,basal cell carcinoma	c.463G>A	p.D155N	19:10986296-10986296	0
173	COSM303247	SMARCA4	skin,NS,carcinoma,basal cell carcinoma	c.3574C>T	p.R1192C	19:11033317-11033317	0
174	COSM1659007	SMARCA2	salivary gland,parotid,carcinoma,NS	c.3476G>T	p.R1159L	9:2115841-2115841	0
175	COSM1389051	SMAD4	salivary gland,parotid,carcinoma,NS	c.993G>A	p.M331I	18:51065460-51065460	0
176	COSM14163	SMAD4	salivary gland,parotid,carcinoma,NS	c.931C>T	p.Q311*	18:51059892-51059892	0
177	COSM5030960	SMAD4	salivary gland,parotid,carcinoma,NS	c.527G>A	p.G176E	18:51054853-51054853	0
178	COSM4468820	SMAD4	salivary gland,parotid,carcinoma,NS	c.1565C>T	p.P522L	18:51078373-51078373	0
179	COSM1226711	SMAD2	skin,NS,carcinoma,basal cell carcinoma	c.1266G>A	p.W422*	18:47845354-47845354	0
180	COSM6912936	SMAD2	skin,NS,carcinoma,basal cell carcinoma	c.737C>T	p.P246L	18:47851321-47851321	0
181	COSM1658856	SLC66A1	salivary gland,parotid,carcinoma,NS	c.719A>C	p.E240A	1:19327327-19327327	0
182	COSM1659093	SLC25A13	salivary gland,parotid,carcinoma,NS	c.888G>A	p.L296L	7:96189339-96189339	0
183	COSM1658944	SIK2	salivary gland,parotid,carcinoma,NS	c.1387G>A	p.E463K	11:111719895-111719895	0
184	COSM6926879	SH2D1A	skin,NS,carcinoma,basal cell carcinoma	c.192G>A	p.W64*	23:124365815-124365815	0
185	COSM1658998	SF3B1	salivary gland,parotid,carcinoma,NS	c.1873C>A	p.R625S	2:197402760-197402760	0
186	COSM110695	SF3B1	salivary gland,parotid,carcinoma,NS	c.1874G>T	p.R625L	2:197402759-197402759	0
187	COSM1659012	SACS	salivary gland,parotid,carcinoma,NS	c.6353C>A	p.S2118Y	13:23337082-23337082	0
188	COSM6926865	RPTOR	skin,NS,carcinoma,basal cell carcinoma	c.115A>T	p.I39F	17:80545744-80545744	0
189	COSM6912934	RPTOR	skin,NS,carcinoma,basal cell carcinoma	c.1606G>C	p.A536P	17:80883440-80883440	0
190	COSM34768	RPS6KB2	salivary gland,parotid,carcinoma,NS	c.986G>A	p.R329Q	11:67434214-67434214	0
191	COSM6951261	RPS6KB2	skin,NS,carcinoma,basal cell carcinoma	c.901A>T	p.K301*	11:67433442-67433442	0
192	COSM6926838	RPS6KA4	skin,NS,carcinoma,basal cell carcinoma	c.1031C>T	p.P344L	11:64365425-64365425	0
193	COSM5925307	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.5479C>T	p.Q1827*	6:117326302-117326302	0
194	COSM6926804	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.1337C>T	p.A446V	6:117389772-117389772	0
195	COSM6926802	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.4883G>A	p.G1628E	6:117341419-117341419	0
196	COSM229019	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.3103C>T	p.R1035*	6:117365075-117365075	0
197	COSM6936915	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.1262G>A	p.G421E	6:117393224-117393224	0
198	COSM5890218	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.5426G>A	p.G1809E	6:117326355-117326355	0
199	COSM6953786	ROS1	skin,NS,carcinoma,basal cell carcinoma	c.4903-1G>A	p.?	6:117341312-117341312	0
200	COSM6912908	RICTOR	skin,NS,carcinoma,basal cell carcinoma	c.4666G>A	p.E1556K	5:38945036-38945036	0
201	COSM2849898	RHOA	skin,NS,carcinoma,basal cell carcinoma	c.50G>A	p.G17E	3:49375540-49375540	0
202	COSM6983009	RBM10	salivary gland,parotid,carcinoma,NS	c.884C>T	p.S295L	23:47179478-47179478	0
203	COSM5030963	RB1	salivary gland,parotid,carcinoma,NS	c.1004T>A	p.L335*	13:48367558-48367558	0
204	COSM1731707	RB1	skin,face,carcinoma,NS	c.1789C>T	p.Q597*	13:48453086-48453086	0
205	COSM6962990	RARA	skin,neck,carcinoma,NS	c.1384C>T	p.P462S	17:40356221-40356221	0
206	COSM1658907	RALGAPA1	salivary gland,parotid,carcinoma,NS	c.1222G>A	p.V408I	14:35748614-35748614	0
207	COSM6962984	RAD52	skin,neck,carcinoma,NS	c.439G>A	p.V147M	12:927173-927173	0
208	COSM6962994	PTPRT	skin,neck,carcinoma,NS	c.1607C>T	p.S536L	20:42352239-42352239	0
209	COSM4493086	PTPRT	skin,NS,carcinoma,basal cell carcinoma	c.4108C>T	p.P1370S	20:42084776-42084776	0
210	COSM6962992	PTPRT	skin,neck,carcinoma,NS	c.1619G>A	p.G540E	20:42352227-42352227	0
211	COSM3546515	PTPRT	skin,NS,carcinoma,basal cell carcinoma	c.2083C>T	p.L695F	20:42315779-42315779	0
212	COSM5564171	PTPRT	skin,NS,carcinoma,basal cell carcinoma	c.3424C>T	p.R1142W	20:42106818-42106818	0
213	COSM6906909	PTPRS	salivary gland,parotid,carcinoma,NS	c.1993G>T	p.D665Y	19:5231472-5231472	0
214	COSM6912939	PTPRS	skin,NS,carcinoma,basal cell carcinoma	c.2839C>T	p.L947F	19:5222953-5222953	0
215	COSM4646623	PTPRS	skin,NS,carcinoma,basal cell carcinoma	c.2710C>T	p.R904W	19:5223082-5223082	0
216	COSM6953794	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.942A>G	p.I314M	9:8521296-8521296	0
217	COSM3395877	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.3925G>A	p.E1309K	9:8449788-8449788	0
218	COSM6962970	PTPRD	skin,neck,carcinoma,NS	c.1736G>A	p.S579N	9:8504347-8504347	0
219	COSM5610301	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.2023G>A	p.E675K	9:8500859-8500859	0
220	COSM6926820	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.5380G>A	p.D1794N	9:8331736-8331736	0
221	COSM456125	PTPRD	skin,neck,carcinoma,NS	c.5048C>T	p.S1683F	9:8341168-8341168	0
222	COSM6926826	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.1774G>A	p.G592S	9:8504309-8504309	0
223	COSM5610130	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.2131C>T	p.P711S	9:8499838-8499838	0
224	COSM1700914	PTPRD	skin,neck,carcinoma,NS	c.1261C>T	p.P421S	9:8518130-8518130	0
225	COSM6912921	PTPRD	skin,NS,carcinoma,basal cell carcinoma	c.2979A>C	p.K993N	9:8485838-8485838	0
226	COSM5030959	PTPN11	salivary gland,parotid,carcinoma,NS	c.1468G>A	p.V490I	12:112489044-112489044	0
227	COSM13036	PTPN11	salivary gland,parotid,carcinoma,NS	c.1520C>A	p.T507K	12:112489096-112489096	0
228	COSM5123	PTEN	salivary gland,parotid,carcinoma,NS	c.395G>A	p.G132D	10:87933154-87933154	0
229	COSM5125	PTEN	salivary gland,parotid,carcinoma,NS	c.755A>G	p.D252G	10:87957973-87957973	0
230	COSM17598	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.550C>T	p.Q184*	9:95485719-95485719	0
231	COSM17475	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1292T>A	p.L431Q	9:95478110-95478110	0
232	COSM17495	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1229G>A	p.S410N	9:95478173-95478173	0
233	COSM17511	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3583A>T	p.T1195S	9:95449290-95449290	0
234	COSM17522	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3586C>T	p.P1196S	9:95449287-95449287	0
235	COSM17490	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3584C>T	p.T1195I	9:95449289-95449289	0
236	COSM17596	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.863G>A	p.G288D	9:95480472-95480472	0
237	COSM29062	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2865C>A	p.Y955*	9:95459622-95459622	0
238	COSM96958	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1930C>T	p.P644S	9:95469071-95469071	0
239	COSM14439	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.992C>T	p.S331F	9:95480044-95480044	0
240	COSM26356	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.834G>A	p.W278*	9:95480501-95480501	0
241	COSM26373	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3499G>A	p.G1167R	9:95449891-95449891	0
242	COSM6912923	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3758A>T	p.Q1253L	9:95449115-95449115	0
243	COSM29349	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2066C>T	p.P689L	9:95468935-95468935	0
244	COSM17474	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2062C>T	p.Q688*	9:95468939-95468939	0
245	COSM17489	PTCH1	skin,face,carcinoma,NS	c.3724G>A	p.E1242K	9:95449149-95449149	0
246	COSM17584	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2105C>T	p.P702L	9:95468896-95468896	0
247	COSM14456	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2778G>A	p.W926*	9:95459709-95459709	0
248	COSM14446	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3054G>A	p.W1018*	9:95458127-95458127	0
249	COSM17532	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.768G>A	p.W256*	9:95480567-95480567	0
250	COSM26377	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3449+1G>A	p.?	9:95453477-95453477	0
251	COSM29057	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2713C>T	p.Q905*	9:95459774-95459774	0
252	COSM17473	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2308C>T	p.R770*	9:95467368-95467368	0
253	COSM26368	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3046C>T	p.L1016F	9:95458135-95458135	0
254	COSM17592	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3605C>T	p.P1202L	9:95449268-95449268	0
255	COSM17467	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1726C>T	p.Q576*	9:95476036-95476036	0
256	COSM17454	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3340A>T	p.R1114W	9:95453587-95453587	0
257	COSM17599	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2120C>T	p.S707F	9:95468881-95468881	0
258	COSM5939959	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.654+1G>A	p.?	9:95482133-95482133	0
259	COSM17481	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.709G>A	p.E237K	9:95481986-95481986	0
260	COSM26361	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.4187G>A	p.G1396E	9:95447069-95447069	0
261	COSM1651689	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.250C>T	p.Q84*	9:95506551-95506551	0
262	COSM26357	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3153G>A	p.W1051*	9:95458028-95458028	0
263	COSM17533	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2251-1G>A	p.?	9:95467426-95467426	0
264	COSM14440	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1093C>T	p.Q365*	9:95479122-95479122	0
265	COSM17594	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2287G>A	p.V763I	9:95467389-95467389	0
266	COSM96936	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2885G>C	p.R962T	9:95459602-95459602	0
267	COSM26378	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1848-1G>A	p.?	9:95469154-95469154	0
268	COSM17472	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1249C>T	p.Q417*	9:95478153-95478153	0
269	COSM29033	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2038G>T	p.E680*	9:95468963-95468963	0
270	COSM17434	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.523C>T	p.L175F	9:95485746-95485746	0
271	COSM17468	PTCH1	skin,neck,carcinoma,basal cell carcinoma	c.584G>T	p.R195M	9:95485685-95485685	0
272	COSM26381	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3306+1G>A	p.?	9:95456275-95456275	0
273	COSM26364	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1481C>T	p.S494F	9:95477569-95477569	0
274	COSM29043	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1634G>A	p.G545E	9:95476128-95476128	0
275	COSM29071	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3549+5G>A	p.?	9:95449836-95449836	0
276	COSM29045	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3168+5G>T	p.?	9:95458008-95458008	0
277	COSM29046	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.747-1G>A	p.?	9:95480589-95480589	0
278	COSM96966	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2561-1G>A	p.?	9:95461999-95461999	0
279	COSM17608	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1161G>A	p.W387*	9:95479054-95479054	0
280	COSM96957	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.713G>A	p.G238E	9:95481982-95481982	0
281	COSM14455	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3590C>T	p.S1197F	9:95449283-95449283	0
282	COSM26363	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2446C>T	p.Q816*	9:95467230-95467230	0
283	COSM17597	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1977G>A	p.Q659Q	9:95469024-95469024	0
284	COSM29053	PTCH1	skin,neck,carcinoma,basal cell carcinoma	c.833G>A	p.W278*	9:95480502-95480502	0
285	COSM17582	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1082A>C	p.Q361P	9:95479133-95479133	0
286	COSM29040	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2693A>G	p.D898G	9:95461866-95461866	0
287	COSM17493	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1316T>C	p.V439A	9:95478086-95478086	0
288	COSM29068	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1603-1G>A	p.?	9:95476160-95476160	0
289	COSM6926831	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.584+1G>A	p.?	9:95485684-95485684	0
290	COSM24852	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1615G>T	p.E539*	9:95476147-95476147	0
291	COSM17552	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1196G>A	p.W399*	9:95479019-95479019	0
292	COSM1651688	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.451G>A	p.A151T	9:95485818-95485818	0
293	COSM17476	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.707G>A	p.W236*	9:95481988-95481988	0
294	COSM29055	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2050G>T	p.E684*	9:95468951-95468951	0
295	COSM29048	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1347+1G>A	p.?	9:95478054-95478054	0
296	COSM17456	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1160G>A	p.W387*	9:95479055-95479055	0
297	COSM17547	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1511C>A	p.P504Q	9:95476850-95476850	0
298	COSM29072	PTCH1	skin,neck,carcinoma,basal cell carcinoma	c.1067+1G>A	p.?	9:95479968-95479968	0
299	COSM144232	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3209T>G	p.M1070R	9:95456373-95456373	0
300	COSM17455	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.666T>A	p.Y222*	9:95482029-95482029	0
301	COSM29052	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.724C>T	p.Q242*	9:95481971-95481971	0
302	COSM96964	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2588G>A	p.W863*	9:95461971-95461971	0
303	COSM6951255	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.785T>A	p.L262*	9:95480550-95480550	0
304	COSM14452	PTCH1	skin,neck,carcinoma,basal cell carcinoma	c.2321G>A	p.G774E	9:95467355-95467355	0
305	COSM17480	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1847G>A	p.S616N	9:95469813-95469813	0
306	COSM17460	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.3917C>T	p.P1306L	9:95447339-95447339	0
307	COSM26365	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.475A>T	p.I159L	9:95485794-95485794	0
308	COSM96960	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3592C>T	p.P1198S	9:95449281-95449281	0
309	COSM17602	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1922C>T	p.P641L	9:95469079-95469079	0
310	COSM144244	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.994A>T	p.R332*	9:95480042-95480042	0
311	COSM1651750	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3169-2A>G	p.?	9:95456415-95456415	0
312	COSM17498	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2033C>T	p.T678I	9:95468968-95468968	0
313	COSM17520	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.584G>A	p.R195K	9:95485685-95485685	0
314	COSM17453	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3196G>T	p.E1066*	9:95456386-95456386	0
315	COSM26370	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.286A>T	p.K96*	9:95506515-95506515	0
316	COSM17519	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.463C>T	p.P155S	9:95485806-95485806	0
317	COSM29147	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1356T>G	p.Y452*	9:95477694-95477694	0
318	COSM17494	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.754C>T	p.P252S	9:95480581-95480581	0
319	COSM17462	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1068-2A>T	p.?	9:95479149-95479149	0
320	COSM29061	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.493G>T	p.E165*	9:95485776-95485776	0
321	COSM29054	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.387G>A	p.W129*	9:95506414-95506414	0
322	COSM144239	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1854C>A	p.C618*	9:95469147-95469147	0
323	COSM1651687	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2557C>T	p.Q853*	9:95467119-95467119	0
324	COSM17585	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2008C>T	p.P670S	9:95468993-95468993	0
325	COSM14467	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3236G>T	p.S1079I	9:95456346-95456346	0
326	COSM26369	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1439C>G	p.S480*	9:95477611-95477611	0
327	COSM17497	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1433C>T	p.A478V	9:95477617-95477617	0
328	COSM17492	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1085C>T	p.T362I	9:95479130-95479130	0
329	COSM17530	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2965G>T	p.E989*	9:95458216-95458216	0
330	COSM14464	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.1804C>T	p.R602*	9:95469856-95469856	0
331	COSM96965	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2812C>T	p.Q938*	9:95459675-95459675	0
332	COSM17496	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2072C>T	p.T691I	9:95468929-95468929	0
333	COSM5989692	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.4048C>T	p.R1350W	9:95447208-95447208	0
334	COSM144245	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1585A>T	p.K529*	9:95476776-95476776	0
335	COSM17600	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2207C>T	p.A736V	9:95468794-95468794	0
336	COSM1651749	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3450-1G>A	p.?	9:95449941-95449941	0
337	COSM26372	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2372T>C	p.I791T	9:95467304-95467304	0
338	COSM29348	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1450G>A	p.G484R	9:95477600-95477600	0
339	COSM96963	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1703C>T	p.P568L	9:95476059-95476059	0
340	COSM17459	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2042C>T	p.P681L	9:95468959-95468959	0
341	COSM17477	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3487G>A	p.G1163S	9:95449903-95449903	0
342	COSM29051	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.478C>T	p.Q160*	9:95485791-95485791	0
343	COSM17483	PTCH1	skin,neck,carcinoma,basal cell carcinoma	c.1729-1G>T	p.?	9:95469932-95469932	0
344	COSM17601	PTCH1	skin,face,carcinoma,basal cell carcinoma	c.2011C>T	p.H671Y	9:95468990-95468990	0
345	COSM14460	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2364T>A	p.Y788*	9:95467312-95467312	0
346	COSM17551	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1396C>T	p.Q466*	9:95477654-95477654	0
347	COSM26367	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.445G>T	p.E149*	9:95485824-95485824	0
348	COSM96959	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.2048C>T	p.S683F	9:95468953-95468953	0
349	COSM17548	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3499G>T	p.G1167W	9:95449891-95449891	0
350	COSM24853	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1688C>T	p.A563V	9:95476074-95476074	0
351	COSM17521	PTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1993C>G	p.R665G	9:95469008-95469008	0
352	COSM6172265	PRDM1	skin,NS,carcinoma,basal cell carcinoma	c.271C>T	p.P91S	6:106095702-106095702	0
353	COSM6951271	PPM1D	skin,NS,carcinoma,basal cell carcinoma	c.674G>A	p.R225K	17:60623722-60623722	0
354	COSM6926852	POLE	skin,NS,carcinoma,basal cell carcinoma	c.4367C>T	p.S1456L	12:132643484-132643484	0
355	COSM6926874	POLD1	skin,NS,carcinoma,basal cell carcinoma	c.2096C>T	p.S699F	19:50409608-50409608	0
356	COSM40483	POLD1	skin,NS,carcinoma,basal cell carcinoma	c.2734C>T	p.P912S	19:50415740-50415740	0
357	COSM1659025	PODN	salivary gland,parotid,carcinoma,NS	c.950T>A	p.L317Q	1:53077752-53077752	0
358	COSM6965461	PLK2	salivary gland,parotid,carcinoma,NS	c.262C>A	p.L88M	5:58459698-58459698	0
359	COSM4543732	PLCG2	skin,NS,carcinoma,basal cell carcinoma	c.3430G>A	p.D1144N	16:81940008-81940008	0
360	COSM6951268	PLCG2	skin,NS,carcinoma,basal cell carcinoma	c.67G>A	p.E23K	16:81786056-81786056	0
361	COSM6962989	PLCG2	skin,neck,carcinoma,NS	c.115G>T	p.E39*	16:81786104-81786104	0
362	COSM1659052	PLCB4	salivary gland,parotid,carcinoma,NS	c.2776A>T	p.K926*	20:9444028-9444028	0
363	COSM6953790	PIK3CG	skin,NS,carcinoma,basal cell carcinoma	c.785C>T	p.P262L	7:106868346-106868346	0
364	COSM6912915	PIK3CG	skin,NS,carcinoma,basal cell carcinoma	c.1024C>T	p.H342Y	7:106868585-106868585	0
365	COSM6962963	PIK3CG	skin,neck,carcinoma,NS	c.310G>A	p.G104R	7:106867871-106867871	0
366	COSM6926809	PIK3CG	skin,NS,carcinoma,basal cell carcinoma	c.202G>A	p.E68K	7:106867763-106867763	0
367	COSM6962964	PIK3CG	skin,neck,carcinoma,NS	c.3227G>A	p.R1076K	7:106905305-106905305	0
368	COSM6953791	PIK3CG	skin,NS,carcinoma,basal cell carcinoma	c.3172G>A	p.G1058R	7:106905250-106905250	0
369	COSM6056498	PIK3CD	skin,NS,carcinoma,basal cell carcinoma	c.1495G>A	p.E499K	1:9720635-9720635	0
370	COSM6926779	PIK3CB	skin,NS,carcinoma,basal cell carcinoma	c.934C>T	p.P312S	3:138734672-138734672	0
371	COSM775	PIK3CA	salivary gland,parotid,carcinoma,NS	c.3140A>G	p.H1047R	3:179234297-179234297	0
372	COSM5030972	PIK3CA	salivary gland,parotid,carcinoma,NS	c.2119G>A	p.E707K	3:179221089-179221089	0
373	COSM760	PIK3CA	salivary gland,parotid,carcinoma,NS	c.1624G>A	p.E542K	3:179218294-179218294	0
374	COSM5030947	PIK3CA	salivary gland,parotid,carcinoma,NS	c.1225G>C	p.V409L	3:179209674-179209674	0
375	COSM763	PIK3CA	salivary gland,parotid,carcinoma,NS	c.1633G>A	p.E545K	3:179218303-179218303	0
376	COSM748	PIK3CA	skin,NS,carcinoma,basal cell carcinoma	c.317G>T	p.G106V	3:179199142-179199142	0
377	COSM754	PIK3CA	salivary gland,parotid,carcinoma,NS	c.1035T>A	p.N345K	3:179203765-179203765	0
378	COSM12597	PIK3CA	salivary gland,parotid,carcinoma,NS	c.3145G>C	p.G1049R	3:179234302-179234302	0
379	COSM13570	PIK3CA	salivary gland,parotid,carcinoma,NS	c.331A>G	p.K111E	3:179199156-179199156	0
380	COSM6926866	PIK3C3	skin,NS,carcinoma,basal cell carcinoma	c.313C>T	p.Q105*	18:41962544-41962544	0
381	COSM6912935	PIK3C3	skin,NS,carcinoma,basal cell carcinoma	c.1216G>A	p.E406K	18:42013487-42013487	0
382	COSM34220	PI4KA	salivary gland,parotid,carcinoma,NS	c.2828T>G	p.L943R	22:20751741-20751741	0
383	COSM6926780	PHOX2B	skin,NS,carcinoma,basal cell carcinoma	c.890C>T	p.S297L	4:41745862-41745862	0
384	COSM3212050	PDGFRB	skin,NS,carcinoma,basal cell carcinoma	c.3001C>T	p.P1001S	5:150117754-150117754	0
385	COSM6927530	PDGFRB	skin,NS,carcinoma,basal cell carcinoma	c.2890G>A	p.E964K	5:150118761-150118761	0
386	COSM6912912	PDGFRB	skin,NS,carcinoma,basal cell carcinoma	c.2596C>T	p.P866S	5:150120114-150120114	0
387	COSM6936906	PARP1	skin,NS,carcinoma,basal cell carcinoma	c.232C>T	p.R78W	1:226402268-226402268	0
388	COSM1659056	PAPPA2	salivary gland,parotid,carcinoma,NS	c.2473C>T	p.R825*	1:176692167-176692167	0
389	COSM6937135	NTRK2	skin,NS,carcinoma,basal cell carcinoma	c.1588C>T	p.P530S	9:84867386-84867386	0
390	COSM6982989	NSD1	salivary gland,parotid,carcinoma,NS	c.7306G>C	p.E2436Q	5:177294674-177294674	0
391	COSM585	NRAS	skin,face,carcinoma,NS	c.183A>T	p.Q61H	1:114713907-114713907	0
392	COSM564	NRAS	skin,NS,carcinoma,basal cell carcinoma	c.35G>A	p.G12D	1:114716126-114716126	0
393	COSM6903909	NRAS	skin,face,carcinoma,NS	c.443C>T	p.T148I	1:114709576-114709576	0
394	COSM253327	NRAS	salivary gland,parotid,carcinoma,NS	c.176C>A	p.A59D	1:114713914-114713914	0
395	COSM583	NRAS	salivary gland,parotid,carcinoma,NS	c.182A>T	p.Q61L	1:114713908-114713908	0
396	COSM574	NRAS	skin,face,carcinoma,NS	c.38G>T	p.G13V	1:114716123-114716123	0
397	COSM6921920	NPM1	skin,NS,carcinoma,basal cell carcinoma	c.584C>T	p.S195F	5:171400840-171400840	0
398	COSM5609653	NOTCH3	skin,NS,carcinoma,basal cell carcinoma	c.2224C>T	p.P742S	19:15185329-15185329	0
399	COSM6936931	NOTCH3	skin,NS,carcinoma,basal cell carcinoma	c.6196C>T	p.P2066S	19:15161432-15161432	0
400	COSM1667036	NOTCH2	skin,face,carcinoma,NS	c.337C>T	p.R113*	1:120005407-120005407	0
401	COSM6903985	NOTCH2	skin,face,carcinoma,NS	c.5524T>C	p.S1842P	1:119919569-119919569	0
402	COSM6903873	NOTCH2	skin,face,carcinoma,NS	c.5141G>A	p.G1714D	1:119922308-119922308	0
403	COSM6903860	NOTCH2	skin,face,carcinoma,NS	c.4418G>T	p.W1473L	1:119925398-119925398	0
404	COSM6903872	NOTCH2	skin,face,carcinoma,NS	c.5140G>A	p.G1714S	1:119922309-119922309	0
405	COSM6903875	NOTCH2	skin,face,carcinoma,NS	c.5266G>A	p.E1756K	1:119921757-119921757	0
406	COSM6903891	NOTCH2	skin,face,carcinoma,NS	c.5942T>C	p.L1981P	1:119917750-119917750	0
407	COSM6903836	NOTCH2	skin,face,carcinoma,NS	c.2314T>C	p.C772R	1:119953594-119953594	0
408	COSM6903889	NOTCH2	skin,NS,carcinoma,basal cell carcinoma	c.5930-1G>C	p.?	1:119917763-119917763	0
409	COSM6903876	NOTCH2	skin,face,carcinoma,NS	c.5449G>A	p.D1817N	1:119920259-119920259	0
410	COSM6903835	NOTCH2	skin,face,carcinoma,NS	c.2234G>A	p.C745Y	1:119953674-119953674	0
411	COSM6903838	NOTCH2	skin,face,carcinoma,NS	c.2414T>C	p.L805P	1:119950789-119950789	0
412	COSM6903841	NOTCH2	skin,face,carcinoma,NS	c.2602C>G	p.Q868E	1:119948564-119948564	0
413	COSM6903870	NOTCH2	skin,face,carcinoma,NS	c.5006A>G	p.E1669G	1:119922443-119922443	0
414	COSM6903823	NOTCH2	skin,face,carcinoma,NS	c.1060A>G	p.I354V	1:119969559-119969559	0
415	COSM6903877	NOTCH2	skin,face,carcinoma,NS	c.5468T>C	p.V1823A	1:119920240-119920240	0
416	COSM6912888	NOTCH2	skin,NS,carcinoma,basal cell carcinoma	c.1109G>A	p.G370D	1:119968232-119968232	0
417	COSM6903986	NOTCH2	skin,face,carcinoma,NS	c.5524T>A	p.S1842T	1:119919569-119919569	0
418	COSM5888593	NOTCH2	skin,NS,carcinoma,basal cell carcinoma	c.2636C>T	p.S879F	1:119948530-119948530	0
419	COSM6903905	NOTCH2	skin,face,carcinoma,NS	c.7097C>T	p.A2366V	1:119915625-119915625	0
420	COSM6903887	NOTCH2	skin,face,carcinoma,NS	c.5836A>G	p.T1946A	1:119918499-119918499	0
421	COSM6903904	NOTCH2	skin,face,carcinoma,NS	c.7085A>G	p.D2362G	1:119915637-119915637	0
422	COSM6903844	NOTCH2	skin,face,carcinoma,NS	c.2987G>A	p.C996Y	1:119940751-119940751	0
423	COSM6926759	NOTCH2	skin,NS,carcinoma,basal cell carcinoma	c.2027-1G>A	p.?	1:119955233-119955233	0
424	COSM6903633	NOTCH1	skin,face,carcinoma,NS	c.3394C>T	p.R1132C	9:136508071-136508071	0
425	COSM6926835	NOTCH1	skin,NS,carcinoma,basal cell carcinoma	c.3571C>T	p.P1191S	9:136507377-136507377	0
426	COSM6903601	NOTCH1	skin,face,carcinoma,NS	c.2609T>C	p.I870T	9:136510784-136510784	0
427	COSM6903681	NOTCH1	skin,face,carcinoma,NS	c.4211A>G	p.E1404G	9:136505685-136505685	0
428	COSM6903579	NOTCH1	skin,face,carcinoma,NS	c.1714C>A	p.P572T	9:136515672-136515672	0
429	COSM6903739	NOTCH1	skin,face,carcinoma,NS	c.5065T>C	p.S1689P	9:136503284-136503284	0
430	COSM4855290	NOTCH1	skin,face,carcinoma,NS	c.1400G>A	p.C467Y	9:136517793-136517793	0
431	COSM327180	NOTCH1	skin,face,carcinoma,NS	c.5554G>A	p.D1852N	9:136501832-136501832	0
432	COSM4520346	NOTCH1	skin,face,carcinoma,NS	c.1054G>A	p.D352N	9:136518636-136518636	0
433	COSM6903621	NOTCH1	skin,face,carcinoma,NS	c.3154A>C	p.T1052P	9:136508887-136508887	0
434	COSM3215909	NOTCH1	skin,face,carcinoma,NS	c.5879T>C	p.M1960T	9:136500607-136500607	0
435	COSM6903735	NOTCH1	skin,face,carcinoma,NS	c.5045A>T	p.N1682I	9:136503304-136503304	0
436	COSM6951259	NOTCH1	skin,NS,carcinoma,basal cell carcinoma	c.689G>A	p.G230E	9:136522903-136522903	0
437	COSM6903569	NOTCH1	skin,face,carcinoma,NS	c.1486A>G	p.S496G	9:136517341-136517341	0
438	COSM6903667	NOTCH1	skin,face,carcinoma,NS	c.4132T>C	p.F1378L	9:136505764-136505764	0
439	COSM5030961	NOTCH1	salivary gland,parotid,carcinoma,NS	c.4715G>A	p.G1572D	9:136504976-136504976	0
440	COSM6903517	NOTCH1	skin,face,carcinoma,NS	c.199C>T	p.P67S	9:136523921-136523921	0
441	COSM6903519	NOTCH1	skin,face,carcinoma,NS	c.200C>T	p.P67L	9:136523920-136523920	0
442	COSM6903513	NOTCH1	skin,face,carcinoma,NS	c.108G>T	p.K36N	9:136544056-136544056	0
443	COSM6903703	NOTCH1	skin,face,carcinoma,NS	c.4417G>T	p.G1473C	9:136505479-136505479	0
444	COSM6903511	NOTCH1	skin,face,carcinoma,NS	c.65C>G	p.P22R	9:136544099-136544099	0
445	COSM139812	NOTCH1	skin,face,carcinoma,NS	c.2468-1G>A	p.?	9:136511272-136511272	0
446	COSM6903515	NOTCH1	skin,face,carcinoma,NS	c.113A>G	p.E38G	9:136544051-136544051	0
447	COSM6903581	NOTCH1	skin,face,carcinoma,NS	c.1847G>A	p.G616D	9:136515539-136515539	0
448	COSM6903637	NOTCH1	skin,face,carcinoma,NS	c.3556G>A	p.E1186K	9:136507392-136507392	0
449	COSM6903721	NOTCH1	skin,face,carcinoma,NS	c.4546T>G	p.F1516V	9:136505350-136505350	0
450	COSM6903689	NOTCH1	skin,face,carcinoma,NS	c.4309G>A	p.G1437R	9:136505587-136505587	0
451	COSM5609565	NOTCH1	skin,face,carcinoma,NS	c.751G>A	p.G251S	9:136519557-136519557	0
452	COSM6903705	NOTCH1	skin,face,carcinoma,NS	c.4417G>A	p.G1473S	9:136505479-136505479	0
453	COSM6903788	NOTCH1	skin,face,carcinoma,NS	c.7022C>T	p.S2341F	9:136496717-136496717	0
454	COSM6953803	NOTCH1	skin,NS,carcinoma,basal cell carcinoma	c.1339C>T	p.P447S	9:136517854-136517854	0
455	COSM6903599	NOTCH1	skin,face,carcinoma,NS	c.2578G>A	p.G860S	9:136511161-136511161	0
456	COSM6903587	NOTCH1	skin,face,carcinoma,NS	c.1903G>A	p.G635R	9:136515483-136515483	0
457	COSM99651	NOTCH1	skin,face,carcinoma,NS	c.1093C>T	p.R365C	9:136518597-136518597	0
458	COSM6903605	NOTCH1	skin,face,carcinoma,NS	c.2712C>G	p.C904W	9:136510681-136510681	0
459	COSM5884808	NOTCH1	skin,face,carcinoma,NS	c.4156C>A	p.P1386T	9:136505740-136505740	0
460	COSM6903619	NOTCH1	skin,face,carcinoma,NS	c.3055C>T	p.Q1019*	9:136508986-136508986	0
461	COSM6903695	NOTCH1	skin,face,carcinoma,NS	c.4355C>T	p.P1452L	9:136505541-136505541	0
462	COSM6903709	NOTCH1	skin,face,carcinoma,NS	c.4424A>C	p.D1475A	9:136505472-136505472	0
463	COSM6903741	NOTCH1	skin,face,carcinoma,NS	c.5141T>C	p.I1714T	9:136503208-136503208	0
464	COSM6903535	NOTCH1	skin,face,carcinoma,NS	c.968G>T	p.C323F	9:136518722-136518722	0
465	COSM6903611	NOTCH1	skin,face,carcinoma,NS	c.2791T>C	p.C931R	9:136509911-136509911	0
466	COSM6903629	NOTCH1	skin,face,carcinoma,NS	c.3289C>T	p.P1097S	9:136508268-136508268	0
467	COSM6903661	NOTCH1	skin,face,carcinoma,NS	c.4088G>A	p.C1363Y	9:136505808-136505808	0
468	COSM6903797	NOTCH1	skin,face,carcinoma,NS	c.7503G>C	p.Q2501H	9:136496236-136496236	0
469	COSM6903795	NOTCH1	skin,face,carcinoma,NS	c.7405C>A	p.P2469T	9:136496334-136496334	0
470	COSM6903764	NOTCH1	skin,face,carcinoma,NS	c.5932C>T	p.Q1978*	9:136500554-136500554	0
471	COSM2936617	NF2	skin,NS,carcinoma,basal cell carcinoma	c.404C>T	p.P135L	22:29642242-29642242	0
472	COSM21991	NF2	skin,NS,carcinoma,basal cell carcinoma	c.169C>T	p.R57*	22:29636805-29636805	0
473	COSM6951270	NF1	skin,NS,carcinoma,basal cell carcinoma	c.6099T>A	p.D2033E	17:31336425-31336425	0
474	COSM6983002	NF1	salivary gland,parotid,carcinoma,NS	c.503C>A	p.S168*	17:31169914-31169914	0
475	COSM220104	NF1	skin,NS,carcinoma,basal cell carcinoma	c.4108C>T	p.Q1370*	17:31249117-31249117	0
476	COSM6965464	NF1	salivary gland,parotid,carcinoma,NS	c.5269-1G>C	p.?	17:31327498-31327498	0
477	COSM6936905	NEGR1	skin,NS,carcinoma,basal cell carcinoma	c.713G>A	p.G238E	1:71611101-71611101	0
478	COSM4559546	NEGR1	skin,NS,carcinoma,basal cell carcinoma	c.809G>A	p.G270E	1:71592948-71592948	0
479	COSM6906903	NCOR1	salivary gland,parotid,carcinoma,NS	c.3479C>T	p.S1160F	17:16079986-16079986	0
480	COSM6951277	NCOA3	skin,NS,carcinoma,basal cell carcinoma	c.893G>A	p.R298Q	20:47633565-47633565	0
481	COSM6964223	NCOA3	salivary gland,parotid,carcinoma,NS	c.3692G>C	p.R1231T	20:47651022-47651022	0
482	COSM6962996	NCOA3	skin,neck,carcinoma,NS	c.979C>T	p.H327Y	20:47634062-47634062	0
483	COSM6926876	NCOA3	skin,NS,carcinoma,basal cell carcinoma	c.47G>A	p.R16Q	20:47622294-47622294	0
484	COSM6953823	NCOA3	skin,NS,carcinoma,basal cell carcinoma	c.2302C>T	p.Q768*	20:47636688-47636688	0
485	COSM1659072	MYT1	salivary gland,parotid,carcinoma,NS	c.2559C>A	p.G853G	20:64227445-64227445	0
486	COSM1659064	MYOD1	salivary gland,parotid,carcinoma,NS	c.178G>T	p.E60*	11:17719960-17719960	0
487	COSM1659028	MYO5B	salivary gland,parotid,carcinoma,NS	c.2234A>G	p.K745R	18:49906599-49906599	0
488	COSM35624	MYCN	skin,NS,carcinoma,basal cell carcinoma	c.131C>T	p.P44L	2:15942195-15942195	0
489	COSM6926817	MYC	skin,NS,carcinoma,basal cell carcinoma	c.1127C>T	p.A376V	8:127740765-127740765	0
490	COSM6926756	MTOR	skin,NS,carcinoma,basal cell carcinoma	c.4229C>T	p.P1410L	1:11199282-11199282	0
491	COSM6912886	MTOR	skin,NS,carcinoma,basal cell carcinoma	c.3418G>C	p.D1140H	1:11212455-11212455	0
492	COSM4170532	MTOR	skin,neck,carcinoma,NS	c.3409G>A	p.E1137K	1:11212464-11212464	0
493	COSM6951240	MTOR	skin,NS,carcinoma,basal cell carcinoma	c.2020T>A	p.C674S	1:11238031-11238031	0
494	COSM6906899	MRE11	salivary gland,parotid,carcinoma,NS	c.1673C>T	p.S558F	11:94447329-94447329	0
495	COSM1658991	MKKS	salivary gland,parotid,carcinoma,NS	c.800C>G	p.S267C	20:10412715-10412715	0
496	COSM6981266	MGA	salivary gland,parotid,carcinoma,NS	c.8834C>A	p.S2945Y	15:41766769-41766769	0
497	COSM6982999	MGA	salivary gland,parotid,carcinoma,NS	c.285G>A	p.M95I	15:41669179-41669179	0
498	COSM6983000	MGA	salivary gland,parotid,carcinoma,NS	c.7985C>G	p.S2662*	15:41764979-41764979	0
499	COSM261995	MGA	skin,NS,carcinoma,basal cell carcinoma	c.3724C>T	p.R1242*	15:41729230-41729230	0
500	COSM6926854	MGA	skin,NS,carcinoma,basal cell carcinoma	c.7537C>T	p.L2513F	15:41760521-41760521	0
501	COSM6953828	MED12	skin,NS,carcinoma,basal cell carcinoma	c.2158G>A	p.G720R	23:71125078-71125078	0
502	COSM1658897	MED12	salivary gland,parotid,carcinoma,NS	c.3745C>G	p.L1249V	23:71129733-71129733	0
503	COSM6951285	MED12	skin,NS,carcinoma,basal cell carcinoma	c.3896C>T	p.S1299F	23:71130063-71130063	0
504	COSM6912956	MED12	skin,NS,carcinoma,basal cell carcinoma	c.5658G>A	p.M1886I	23:71137293-71137293	0
505	COSM6926847	MDM2	skin,NS,carcinoma,basal cell carcinoma	c.1276C>T	p.Q426*	12:68839631-68839631	0
506	COSM6926859	MAPK3	skin,NS,carcinoma,basal cell carcinoma	c.796C>T	p.Q266*	16:30117265-30117265	0
507	COSM516	KRAS	skin,NS,carcinoma,basal cell carcinoma	c.34G>T	p.G12C	12:25245351-25245351	0
508	COSM521	KRAS	skin,face,carcinoma,NS	c.35G>A	p.G12D	12:25245350-25245350	0
509	COSM6903505	KRAS	skin,face,carcinoma,NS	c.229G>A	p.G77S	12:25227295-25227295	0
510	COSM6926841	KRAS	skin,NS,carcinoma,basal cell carcinoma	c.122G>A	p.R41K	12:25227402-25227402	0
511	COSM98455	KRAS	salivary gland,parotid,carcinoma,NS	c.204G>C	p.R68S	12:25227320-25227320	0
512	COSM520	KRAS	skin,NS,carcinoma,basal cell carcinoma	c.35G>T	p.G12V	12:25245350-25245350	0
513	COSM553	KRAS	skin,NS,carcinoma,basal cell carcinoma	c.182A>T	p.Q61L	12:25227342-25227342	0
514	COSM1659055	KNTC1	salivary gland,parotid,carcinoma,NS	c.3149C>G	p.S1050*	12:122582871-122582871	0
515	COSM6926846	KMT2D	skin,NS,carcinoma,basal cell carcinoma	c.3223C>T	p.P1075S	12:49048748-49048748	0
516	COSM6909696	KMT2D	skin,NS,carcinoma,basal cell carcinoma	c.14302G>T	p.E4768*	12:49026854-49026854	0
517	COSM6907251	KMT2D	skin,NS,carcinoma,basal cell carcinoma	c.15706G>A	p.E5236K	12:49022048-49022048	0
518	COSM220680	KMT2D	skin,NS,carcinoma,basal cell carcinoma	c.12796C>T	p.R4266*	12:49030958-49030958	0
519	COSM6926844	KMT2D	skin,NS,carcinoma,basal cell carcinoma	c.6893C>T	p.P2298L	12:49040067-49040067	0
520	COSM6936919	KMT2D	skin,NS,carcinoma,basal cell carcinoma	c.10537C>T	p.Q3513*	12:49033358-49033358	0
521	COSM6926813	KMT2C	skin,NS,carcinoma,basal cell carcinoma	c.6350C>T	p.S2117F	7:152181510-152181510	0
522	COSM1087613	KMT2C	skin,NS,carcinoma,basal cell carcinoma	c.3899G>A	p.R1300K	7:152205168-152205168	0
523	COSM6981265	KMT2C	salivary gland,parotid,carcinoma,NS	c.13253G>A	p.R4418K	7:152148674-152148674	0
524	COSM6926811	KMT2C	skin,NS,carcinoma,basal cell carcinoma	c.6935C>T	p.S2312F	7:152180925-152180925	0
525	COSM6906897	KMT2C	salivary gland,parotid,carcinoma,NS	c.440A>T	p.Q147L	7:152315288-152315288	0
526	COSM6912917	KMT2C	skin,NS,carcinoma,basal cell carcinoma	c.14138C>T	p.P4713L	7:152145189-152145189	0
527	COSM6912919	KMT2C	skin,NS,carcinoma,basal cell carcinoma	c.12305C>T	p.S4102F	7:152152926-152152926	0
528	COSM6962967	KMT2C	skin,neck,carcinoma,NS	c.11659C>T	p.H3887Y	7:152158874-152158874	0
529	COSM6962983	KMT2A	skin,neck,carcinoma,NS	c.4377T>G	p.C1459W	11:118488658-118488658	0
530	COSM1658870	KLF5	salivary gland,parotid,carcinoma,NS	c.1253A>T	p.D418V	13:73075765-73075765	0
531	COSM51380	KIT	salivary gland,parotid,carcinoma,NS	c.1990G>A	p.G664R	4:54728121-54728121	0
532	COSM51381	KIT	salivary gland,face,carcinoma,NS	c.2386A>G	p.R796G	4:54733094-54733094	0
533	COSM33972	KIT	salivary gland,parotid,carcinoma,NS	c.1915T>C	p.S639P	4:54728046-54728046	0
534	COSM33975	KIT	salivary gland,parotid,carcinoma,NS	c.2465A>G	p.N822S	4:54733173-54733173	0
535	COSM6926781	KIT	skin,NS,carcinoma,basal cell carcinoma	c.2597G>A	p.G866E	4:54736721-54736721	0
536	COSM33967	KIT	salivary gland,parotid,carcinoma,NS	c.1738C>T	p.H580Y	4:54727506-54727506	0
537	COSM33965	KIT	salivary gland,parotid,carcinoma,NS	c.1652C>T	p.P551L	4:54727420-54727420	0
538	COSM33966	KIT	salivary gland,parotid,carcinoma,NS	c.1726C>T	p.L576F	4:54727494-54727494	0
539	COSM75106	KDR	skin,NS,carcinoma,basal cell carcinoma	c.538G>A	p.D180N	4:55114994-55114994	0
540	COSM6953780	KDR	skin,NS,carcinoma,basal cell carcinoma	c.383C>T	p.S128F	4:55115387-55115387	0
541	COSM6926782	KDR	skin,NS,carcinoma,basal cell carcinoma	c.367T>G	p.S123A	4:55115403-55115403	0
542	COSM6951279	KDM6A	skin,NS,carcinoma,basal cell carcinoma	c.748+2T>G	p.?	23:45051804-45051804	0
543	COSM6963776	KDM5C	salivary gland,parotid,carcinoma,NS	c.455T>A	p.L152*	23:53217863-53217863	0
544	COSM6981270	KDM5C	salivary gland,parotid,carcinoma,NS	c.250A>C	p.N84H	23:53218377-53218377	0
545	COSM6912930	KDM5A	skin,NS,carcinoma,basal cell carcinoma	c.1912G>A	p.E638K	12:328891-328891	0
546	COSM6906901	KDM5A	salivary gland,parotid,carcinoma,NS	c.4055C>T	p.T1352I	12:306965-306965	0
547	COSM6982998	KDM5A	salivary gland,parotid,carcinoma,NS	c.2612C>G	p.S871C	12:318391-318391	0
548	COSM6926870	JAK3	skin,NS,carcinoma,basal cell carcinoma	c.1448C>T	p.S483F	19:17838384-17838384	0
549	COSM6983006	JAK3	salivary gland,parotid,carcinoma,NS	c.2605C>T	p.Q869*	19:17832594-17832594	0
550	COSM3099047	JAK3	skin,NS,carcinoma,basal cell carcinoma	c.59C>T	p.S20F	19:17844359-17844359	0
551	COSM911557	JAK1	salivary gland,parotid,carcinoma,NS	c.2263C>T	p.R755*	1:64844204-64844204	0
552	COSM6936904	JAK1	skin,NS,carcinoma,basal cell carcinoma	c.160G>A	p.E54K	1:64883322-64883322	0
553	COSM6953818	INSR	skin,NS,carcinoma,basal cell carcinoma	c.4036G>A	p.G1346R	19:7117169-7117169	0
554	COSM6936929	INSR	skin,NS,carcinoma,basal cell carcinoma	c.4012G>T	p.E1338*	19:7117193-7117193	0
555	COSM6912902	INPP4B	skin,NS,carcinoma,basal cell carcinoma	c.1084G>A	p.D362N	4:142193184-142193184	0
556	COSM137413	INPP4B	skin,NS,carcinoma,basal cell carcinoma	c.407C>T	p.P136L	4:142314728-142314728	0
557	COSM6926785	INPP4B	skin,NS,carcinoma,basal cell carcinoma	c.1462C>G	p.P488A	4:142160459-142160459	0
558	COSM6912894	INPP4A	skin,NS,carcinoma,basal cell carcinoma	c.764C>T	p.S255F	2:98539621-98539621	0
559	COSM6906894	INPP4A	salivary gland,parotid,carcinoma,NS	c.512G>A	p.W171*	2:98537907-98537907	0
560	COSM6982986	IL7R	salivary gland,parotid,carcinoma,NS	c.864G>C	p.K288N	5:35875575-35875575	0
561	COSM3969364	IGF1R	salivary gland,parotid,carcinoma,NS	c.1664A>G	p.D555G	15:98913118-98913118	0
562	COSM34039	IDH2	salivary gland,parotid,carcinoma,NS	c.514A>T	p.R172W	15:90088607-90088607	0
563	COSM6912896	IDH1	skin,NS,carcinoma,basal cell carcinoma	c.679T>G	p.F227V	2:208243446-208243446	0
564	COSM6926764	IDH1	skin,NS,carcinoma,basal cell carcinoma	c.1013G>A	p.R338K	2:208239212-208239212	0
565	COSM499	HRAS	salivary gland,parotid,carcinoma,NS	c.182A>G	p.Q61R	11:533874-533874	0
566	COSM483	HRAS	skin,NS,carcinoma,basal cell carcinoma	c.35G>T	p.G12V	11:534288-534288	0
567	COSM498	HRAS	skin,face,carcinoma,NS	c.182A>T	p.Q61L	11:533874-533874	0
568	COSM490	HRAS	skin,NS,carcinoma,basal cell carcinoma	c.38G>A	p.G13D	11:534285-534285	0
569	COSM6903493	HRAS	skin,face,carcinoma,NS	c.409T>G	p.Y137D	11:533494-533494	0
570	COSM6903487	HRAS	skin,face,carcinoma,NS	c.205G>C	p.D69H	11:533851-533851	0
571	COSM496	HRAS	salivary gland,parotid,carcinoma,NS	c.181C>A	p.Q61K	11:533875-533875	0
572	COSM486	HRAS	skin,NS,carcinoma,basal cell carcinoma	c.37G>C	p.G13R	11:534286-534286	0
573	COSM6926849	HNF1A	skin,NS,carcinoma,basal cell carcinoma	c.1207C>T	p.L403F	12:120996640-120996640	0
574	COSM5327973	HIST1H3I	salivary gland,parotid,carcinoma,NS	c.395G>C	p.R132P	6:27871921-27871921	0
575	COSM6926797	HIST1H3B	skin,NS,carcinoma,basal cell carcinoma	c.205C>T	p.Q69*	6:26031856-26031856	0
576	COSM6982991	HIST1H3A	salivary gland,parotid,carcinoma,NS	c.220G>C	p.E74Q	6:26020709-26020709	0
577	COSM6438927	HGF	skin,neck,carcinoma,NS	c.974C>T	p.P325L	7:81729671-81729671	0
578	COSM6926808	HGF	skin,NS,carcinoma,basal cell carcinoma	c.1492G>A	p.G498R	7:81710196-81710196	0
579	COSM6983003	H3F3B	salivary gland,parotid,carcinoma,NS	c.18G>T	p.Q6H	17:75779157-75779157	0
580	COSM1659039	GSTA4	salivary gland,parotid,carcinoma,NS	c.98A>G	p.E33G	6:52987398-52987398	0
581	COSM6906902	GRIN2A	salivary gland,parotid,carcinoma,NS	c.2626A>T	p.I876F	16:9764918-9764918	0
582	COSM5385593	GRIN2A	skin,NS,carcinoma,basal cell carcinoma	c.4117G>A	p.D1373N	16:9763427-9763427	0
583	COSM6936921	GREM1	skin,NS,carcinoma,basal cell carcinoma	c.22G>A	p.V8M	15:32730712-32730712	0
584	COSM1658923	GBF1	salivary gland,parotid,carcinoma,NS	c.2563C>T	p.R855C	10:102367484-102367484	0
585	COSM1658993	GATB	salivary gland,parotid,carcinoma,NS	c.1060C>A	p.L354M	4:151701466-151701466	0
586	COSM6669552	GATA3	skin,NS,carcinoma,basal cell carcinoma	c.668C>T	p.P223L	10:8058731-8058731	0
587	COSM1658980	FRS3	salivary gland,parotid,carcinoma,NS	c.172C>G	p.P58A	6:41775500-41775500	0
588	COSM3597304	FOXP1	skin,NS,carcinoma,basal cell carcinoma	c.1876C>T	p.P626S	3:70965903-70965903	0
589	COSM6936909	FOXP1	skin,NS,carcinoma,basal cell carcinoma	c.1527G>A	p.W509*	3:70976944-70976944	0
590	COSM6954586	FOXP1	salivary gland,parotid,carcinoma,NS	c.633G>T	p.Q211H	3:71046973-71046973	0
591	COSM6926768	FOXP1	skin,NS,carcinoma,basal cell carcinoma	c.1138C>T	p.P380S	3:70988002-70988002	0
592	COSM6951248	FOXP1	skin,NS,carcinoma,basal cell carcinoma	c.1196C>T	p.S399F	3:70977980-70977980	0
593	COSM6953806	FOXO1	skin,NS,carcinoma,basal cell carcinoma	c.832C>T	p.Q278*	13:40560659-40560659	0
594	COSM1659127	FOXJ3	salivary gland,parotid,carcinoma,NS	c.1389A>C	p.L463L	1:42189367-42189367	0
595	COSM6965462	FOXA1	salivary gland,parotid,carcinoma,NS	c.1310T>A	p.L437Q	14:37591474-37591474	0
596	COSM1659099	FMNL1	salivary gland,parotid,carcinoma,NS	c.2046G>A	p.K682K	17:45243153-45243153	0
597	COSM6936920	FLT3	skin,NS,carcinoma,basal cell carcinoma	c.2431G>A	p.D811N	13:28018577-28018577	0
598	COSM5542939	FLT1	skin,NS,carcinoma,basal cell carcinoma	c.80C>T	p.S27L	13:28467602-28467602	0
599	COSM6951264	FLT1	skin,NS,carcinoma,basal cell carcinoma	c.3364C>T	p.P1122S	13:28317520-28317520	0
600	COSM1658930	FLNC	salivary gland,parotid,carcinoma,NS	c.5042C>T	p.T1681M	7:128849421-128849421	0
601	COSM6962960	FGFR3	skin,neck,carcinoma,NS	c.2421A>G	p.*807W	4:1807262-1807262	0
602	COSM6962980	FGFR2	skin,neck,carcinoma,NS	c.2234C>T	p.S745F	10:121483765-121483765	0
603	COSM6926793	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.4064C>T	p.P1355L	4:186636144-186636144	0
604	COSM1054163	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.7789C>T	p.R2597*	4:186618797-186618797	0
605	COSM6926792	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.4064C>T	p.P1355L	4:186636144-186636144	0
606	COSM4005729	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.46C>T	p.Q16*	4:186709782-186709782	0
607	COSM6926790	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.11869C>T	p.R3957C	4:186600132-186600132	0
608	COSM6912906	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.4323+2T>G	p.?	4:186633682-186633682	0
609	COSM4981738	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.2527C>T	p.Q843*	4:186707301-186707301	0
610	COSM6926788	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.12815C>T	p.S4272F	4:186596725-186596725	0
611	COSM4981737	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.2527C>T	p.Q843*	4:186707301-186707301	0
612	COSM6912905	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.4323+2T>G	p.?	4:186633682-186633682	0
613	COSM6926789	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.12815C>T	p.S4272F	4:186596725-186596725	0
614	COSM6926791	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.11869C>T	p.R3957C	4:186600132-186600132	0
615	COSM4005728	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.46C>T	p.Q16*	4:186709782-186709782	0
616	COSM1054161	FAT1	skin,NS,carcinoma,basal cell carcinoma	c.7789C>T	p.R2597*	4:186618797-186618797	0
617	COSM6953813	FANCA	skin,NS,carcinoma,basal cell carcinoma	c.4114G>A	p.D1372N	16:89739186-89739186	0
618	COSM37030	EZH2	salivary gland,parotid,carcinoma,NS	c.1936T>C	p.Y646H	7:148811636-148811636	0
619	COSM6951266	ERCC4	skin,NS,carcinoma,basal cell carcinoma	c.949G>A	p.E317K	16:13930866-13930866	0
620	COSM6912897	ERBB4	skin,NS,carcinoma,basal cell carcinoma	c.2202+1G>A	p.?	2:211623921-211623921	0
621	COSM6926765	ERBB4	skin,NS,carcinoma,basal cell carcinoma	c.1223C>T	p.P408L	2:211704170-211704170	0
622	COSM4090941	ERBB4	salivary gland,parotid,carcinoma,NS	c.718G>A	p.G240R	2:211725099-211725099	0
623	COSM6503124	ERBB4	salivary gland,parotid,carcinoma,NS	c.935A>G	p.K312R	2:211713597-211713597	0
624	COSM436500	ERBB2	salivary gland,parotid,carcinoma,NS	c.2329G>C	p.V777L	17:39724747-39724747	0
625	COSM88803	ERBB2	salivary gland,parotid,carcinoma,NS	c.2584A>G	p.T862A	17:39725139-39725139	0
626	COSM6926778	EPHB1	skin,NS,carcinoma,basal cell carcinoma	c.2446G>A	p.E816K	3:135241247-135241247	0
627	COSM6926799	EPHA7	skin,NS,carcinoma,basal cell carcinoma	c.1927G>A	p.E643K	6:93258282-93258282	0
628	COSM1723966	EPHA7	skin,NS,carcinoma,basal cell carcinoma	c.1393G>A	p.E465K	6:93272354-93272354	0
629	COSM6962962	EPHA7	skin,neck,carcinoma,NS	c.2468G>A	p.G823E	6:93254711-93254711	0
630	COSM4992793	EPHA7	skin,NS,carcinoma,basal cell carcinoma	c.2059G>A	p.G687R	6:93258150-93258150	0
631	COSM6926801	EPHA7	skin,NS,carcinoma,basal cell carcinoma	c.1507A>G	p.N503D	6:93269603-93269603	0
632	COSM1430547	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.1658G>A	p.R553Q	4:65414313-65414313	0
633	COSM6912901	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.733G>A	p.D245N	4:65601818-65601818	0
634	COSM6936911	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.1021G>A	p.D341N	4:65495433-65495433	0
635	COSM6953782	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.881G>A	p.G294E	4:65601670-65601670	0
636	COSM6866987	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.2513G>A	p.G838E	4:65348199-65348199	0
637	COSM6953783	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.719T>G	p.L240W	4:65601832-65601832	0
638	COSM6953781	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.1823C>T	p.S608F	4:65377031-65377031	0
639	COSM6926783	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.2197C>T	p.H733Y	4:65365056-65365056	0
640	COSM6926784	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.2146A>G	p.K716E	4:65365107-65365107	0
641	COSM5918388	EPHA5	skin,neck,carcinoma,NS	c.2608G>A	p.E870K	4:65348104-65348104	0
642	COSM6936910	EPHA5	skin,NS,carcinoma,basal cell carcinoma	c.1318G>A	p.E440K	4:65490461-65490461	0
643	COSM6926771	EPHA3	skin,NS,carcinoma,basal cell carcinoma	c.1426G>A	p.E476K	3:89395956-89395956	0
644	COSM6926773	EPHA3	skin,NS,carcinoma,basal cell carcinoma	c.2182C>T	p.R728*	3:89431195-89431195	0
645	COSM6962957	EPHA3	skin,neck,carcinoma,NS	c.632T>A	p.M211K	3:89210338-89210338	0
646	COSM6926769	EPHA3	skin,NS,carcinoma,basal cell carcinoma	c.1061G>T	p.R354L	3:89341845-89341845	0
647	COSM6926774	EPHA3	skin,NS,carcinoma,basal cell carcinoma	c.2684C>T	p.A895V	3:89450364-89450364	0
648	COSM4527016	EPHA3	skin,NS,carcinoma,basal cell carcinoma	c.1435G>A	p.E479K	3:89399321-89399321	0
649	COSM6946976	EPHA3	skin,neck,carcinoma,NS	c.533G>A	p.G178E	3:89210239-89210239	0
650	COSM6975885	EP300	salivary gland,parotid,carcinoma,NS	c.5206C>T	p.Q1736*	22:41176917-41176917	0
651	COSM29274	EGFR	salivary gland,parotid,carcinoma,NS	c.2254T>C	p.S752P	7:55174791-55174791	0
652	COSM41905	EGFR	salivary gland,parotid,carcinoma,NS	c.2092G>A	p.A698T	7:55173951-55173951	0
653	COSM41904	EGFR	salivary gland,parotid,carcinoma,NS	c.2153T>C	p.L718P	7:55174012-55174012	0
654	COSM13177	EGFR	salivary gland,parotid,carcinoma,NS	c.2063T>C	p.L688P	7:55173922-55173922	0
655	COSM1658939	DUS2	salivary gland,parotid,carcinoma,NS	c.812C>T	p.A271V	16:68074035-68074035	0
656	COSM6848800	DOT1L	skin,NS,carcinoma,basal cell carcinoma	c.3640C>T	p.P1214S	19:2225431-2225431	0
657	COSM6949581	DOT1L	skin,NS,carcinoma,basal cell carcinoma	c.4292C>T	p.A1431V	19:2226813-2226813	0
658	COSM6983005	DOT1L	salivary gland,parotid,carcinoma,NS	c.3604-3G>C	p.?	19:2225392-2225392	0
659	COSM6951274	DNMT1	skin,NS,carcinoma,basal cell carcinoma	c.2128C>T	p.P710S	19:10151487-10151487	0
660	COSM6912932	DICER1	skin,NS,carcinoma,basal cell carcinoma	c.4798G>A	p.E1600K	14:95096122-95096122	0
661	COSM6953808	DICER1	skin,NS,carcinoma,basal cell carcinoma	c.421G>A	p.E141K	14:95131526-95131526	0
662	COSM6926761	DDR2	skin,NS,carcinoma,basal cell carcinoma	c.199G>A	p.E67K	1:162754637-162754637	0
663	COSM6951243	DDR2	skin,NS,carcinoma,basal cell carcinoma	c.1636G>A	p.D546N	1:162772155-162772155	0
664	COSM1658943	CYP7B1	salivary gland,parotid,carcinoma,NS	c.137C>T	p.P46L	8:64624525-64624525	0
665	COSM214343	CYLD	skin,face,adnexal tumour,trichoepithelioma	c.1327C>T	p.Q443*	16:50779853-50779853	0
666	COSM3046519	CUL3	skin,NS,carcinoma,basal cell carcinoma	c.1153C>T	p.P385S	2:224506009-224506009	0
667	COSM5662	CTNNB1	skin,NS,carcinoma,basal cell carcinoma	c.110C>T	p.S37F	3:41224622-41224622	0
668	COSM13168	CTNNB1	salivary gland,parotid,carcinoma,NS	c.104T>C	p.I35T	3:41224616-41224616	0
669	COSM6926767	CTNNB1	skin,NS,carcinoma,basal cell carcinoma	c.1718G>T	p.C573F	3:41235758-41235758	0
670	COSM5688	CTNNB1	salivary gland,parotid,adenoma,basal cell	c.121A>C	p.T41P	3:41224633-41224633	0
671	COSM4007517	CSF3R	skin,NS,carcinoma,basal cell carcinoma	c.59C>T	p.P20L	1:36479438-36479438	0
672	COSM6926873	CIC	skin,NS,carcinoma,basal cell carcinoma	c.2123G>A	p.R708K	19:42290891-42290891	0
673	COSM1658854	CHN2	salivary gland,parotid,carcinoma,NS	c.523A>C	p.N175H	7:29400775-29400775	0
674	COSM1659020	CFAP70	salivary gland,parotid,carcinoma,NS	c.2792A>T	p.Y931F	10:73275537-73275537	0
675	COSM1659019	CFAP70	salivary gland,parotid,carcinoma,NS	c.2789A>T	p.E930V	10:73275540-73275540	0
676	COSM12476	CDKN2A	skin,NS,carcinoma,basal cell carcinoma	c.341C>T	p.P114L	9:21971018-21971018	0
677	COSM13223	CDKN2A	skin,face,carcinoma,NS	c.151-1G>A	p.?	9:21971209-21971209	0
678	COSM12475	CDKN2A	salivary gland,parotid,carcinoma,NS	c.238C>T	p.R80*	9:21971121-21971121	0
679	COSM13496	CDKN2A	skin,face,carcinoma,NS	c.151G>A	p.V51I	9:21971208-21971208	0
680	COSM12506	CDKN2A	skin,face,carcinoma,NS	c.148C>T	p.Q50*	9:21974680-21974680	0
681	COSM6936925	CDK12	skin,NS,carcinoma,basal cell carcinoma	c.64C>T	p.Q22*	17:39462135-39462135	0
682	COSM6953814	CDK12	skin,NS,carcinoma,basal cell carcinoma	c.1702C>T	p.P568S	17:39471534-39471534	0
683	COSM1937734	CD276	skin,NS,carcinoma,basal cell carcinoma	c.904G>A	p.D302N	15:73703829-73703829	0
684	COSM3078946	CCND3	skin,NS,carcinoma,basal cell carcinoma	c.848C>T	p.T283I	6:41935971-41935971	0
685	COSM1658926	CCDC65	salivary gland,parotid,carcinoma,NS	c.400C>T	p.R134W	12:48914503-48914503	0
686	COSM1658884	CASZ1	salivary gland,parotid,carcinoma,NS	c.4655G>T	p.S1552I	1:10639567-10639567	0
687	COSM6962956	CASP8	skin,neck,carcinoma,NS	c.1382C>T	p.T461I	2:201286485-201286485	0
688	COSM3713589	CASP8	skin,neck,carcinoma,NS	c.1093C>T	p.L365F	2:201285055-201285055	0
689	COSM6912913	CARD11	skin,NS,carcinoma,basal cell carcinoma	c.2698C>T	p.L900F	7:2917295-2917295	0
690	COSM6982994	CARD11	salivary gland,parotid,carcinoma,NS	c.1453G>A	p.E485K	7:2934518-2934518	0
691	COSM4549748	CARD11	skin,NS,carcinoma,basal cell carcinoma	c.481G>A	p.D161N	7:2944415-2944415	0
692	COSM6906906	BRIP1	salivary gland,parotid,carcinoma,NS	c.2474T>C	p.L825S	17:61715969-61715969	0
693	COSM6909698	BRCA2	skin,NS,carcinoma,basal cell carcinoma	c.4382C>T	p.S1461F	13:32338737-32338737	0
694	COSM34219	BRCA2	salivary gland,parotid,carcinoma,NS	c.559G>A	p.E187K	13:32326541-32326541	0
695	COSM478	BRAF	salivary gland,parotid,carcinoma,NS	c.1801A>G	p.K601E	7:140753334-140753334	0
696	COSM476	BRAF	salivary gland,parotid,carcinoma,NS	c.1799T>A	p.V600E	7:140753336-140753336	0
697	COSM133631	BRAF	skin,face,carcinoma,basal cell carcinoma	c.1828T>A	p.F610I	7:140753307-140753307	0
698	COSM133632	BRAF	skin,face,carcinoma,basal cell carcinoma	c.1789C>T	p.L597L	7:140753346-140753346	0
699	COSM1659041	BORA	salivary gland,parotid,carcinoma,NS	c.1052T>G	p.I351R	13:72746681-72746681	0
700	COSM1659125	BIRC6	salivary gland,parotid,carcinoma,NS	c.9339T>C	p.T3113T	2:32503076-32503076	0
701	COSM6926839	BIRC3	skin,NS,carcinoma,basal cell carcinoma	c.1604C>T	p.P535L	11:102336784-102336784	0
702	COSM6981268	BCOR	salivary gland,parotid,carcinoma,NS	c.1552G>T	p.E518*	23:40073794-40073794	0
703	COSM6953825	BCOR	skin,NS,carcinoma,basal cell carcinoma	c.4519G>A	p.D1507N	23:40055488-40055488	0
704	COSM6912900	BARD1	skin,NS,carcinoma,basal cell carcinoma	c.1879G>A	p.G627R	2:214745091-214745091	0
705	COSM6912954	AXL	skin,NS,carcinoma,basal cell carcinoma	c.1652C>T	p.S551F	19:41248788-41248788	0
706	COSM6926878	AURKA	skin,NS,carcinoma,basal cell carcinoma	c.260C>T	p.P87L	20:56386316-56386316	0
707	COSM6909699	ATRX	skin,NS,carcinoma,basal cell carcinoma	c.5389G>T	p.V1797F	23:77618865-77618865	0
708	COSM1659065	ATP10B	salivary gland,parotid,carcinoma,NS	c.2787C>A	p.C929*	5:160612792-160612792	0
709	COSM21323	ATM	skin,neck,carcinoma,NS	c.1009C>T	p.R337C	11:108247071-108247071	0
710	COSM173211	ATM	skin,NS,carcinoma,basal cell carcinoma	c.748C>T	p.R250*	11:108244873-108244873	0
711	COSM21301	ATM	salivary gland,parotid,carcinoma,NS	c.1010G>A	p.R337H	11:108247072-108247072	0
712	COSM6982996	ATM	salivary gland,parotid,carcinoma,NS	c.6046G>C	p.D2016H	11:108315862-108315862	0
713	COSM1235406	ATM	skin,NS,carcinoma,basal cell carcinoma	c.7466C>T	p.S2489F	11:108330372-108330372	0
714	COSM21826	ATM	salivary gland,parotid,adenoma,basal cell	c.2572T>C	p.F858L	11:108267276-108267276	0
715	COSM6926763	ASXL2	skin,NS,carcinoma,basal cell carcinoma	c.1121C>T	p.S374L	2:25744436-25744436	0
716	COSM1658910	ARID5B	salivary gland,parotid,carcinoma,NS	c.1327C>T	p.R443C	10:62085829-62085829	0
717	COSM6926842	ARID2	skin,NS,carcinoma,basal cell carcinoma	c.705+1G>A	p.?	12:45821488-45821488	0
718	COSM6926807	ARID1B	skin,NS,carcinoma,basal cell carcinoma	c.3433C>T	p.P1145S	6:157184372-157184372	0
719	COSM6982993	ARID1B	salivary gland,parotid,carcinoma,NS	c.5998G>A	p.E2000K	6:157207193-157207193	0
720	COSM1659057	ARID1A	salivary gland,parotid,carcinoma,NS	c.4069C>T	p.Q1357*	1:26773866-26773866	0
721	COSM6909693	ARID1A	skin,NS,carcinoma,basal cell carcinoma	c.5834C>T	p.P1945L	1:26779732-26779732	0
722	COSM6912887	ARID1A	skin,NS,carcinoma,basal cell carcinoma	c.1954G>A	p.G652R	1:26760889-26760889	0
723	COSM6924342	ARID1A	skin,NS,carcinoma,basal cell carcinoma	c.3406+2T>A	p.?	1:26771328-26771328	0
724	COSM6951281	ARAF	skin,NS,carcinoma,basal cell carcinoma	c.3G>T	p.M1I	23:47562970-47562970	0
725	COSM3562855	AR	skin,NS,carcinoma,basal cell carcinoma	c.712G>A	p.E238K	23:67545858-67545858	0
726	COSM6921907	AR	skin,NS,carcinoma,basal cell carcinoma	c.1117G>A	p.G373R	23:67546263-67546263	0
727	COSM6950941	APC	skin,neck,carcinoma,NS	c.536C>T	p.S179F	5:112780794-112780794	0
728	COSM5030970	APC	salivary gland,parotid,carcinoma,NS	c.2602G>A	p.E868K	5:112838196-112838196	0
729	COSM1059567	APC	skin,NS,carcinoma,basal cell carcinoma	c.2185C>T	p.L729F	5:112837779-112837779	0
730	COSM6912911	APC	skin,NS,carcinoma,basal cell carcinoma	c.518C>T	p.P173L	5:112775724-112775724	0
731	COSM1659002	ANKS4B	salivary gland,parotid,carcinoma,NS	c.313G>T	p.A105S	16:21249879-21249879	0
732	COSM6953812	ANKRD11	skin,NS,carcinoma,basal cell carcinoma	c.4070C>T	p.S1357F	16:89282472-89282472	0
733	COSM6951283	AMER1	skin,NS,carcinoma,basal cell carcinoma	c.979G>A	p.G327S	23:64192308-64192308	0
734	COSM5030957	ALK	salivary gland,parotid,carcinoma,NS	c.3597G>A	p.M1199I	2:29220754-29220754	0
735	COSM28055	ALK	salivary gland,parotid,carcinoma,NS	c.3522C>A	p.F1174L	2:29220829-29220829	0
736	COSM6951246	AKT3	skin,NS,carcinoma,basal cell carcinoma	c.617C>T	p.P206L	1:243615106-243615106	0
737	COSM6962953	AKT3	skin,neck,carcinoma,NS	c.1164-1G>A	p.?	1:243545598-243545598	0
738	COSM6912952	AKT2	skin,NS,carcinoma,basal cell carcinoma	c.1255C>T	p.Q419*	19:40235271-40235271	0
739	COSM5030956	AKT1	salivary gland,parotid,carcinoma,NS	c.98G>A	p.G33D	14:104780165-104780165	0
740	COSM33765	AKT1	salivary gland,parotid,carcinoma,NS	c.49G>A	p.E17K	14:104780214-104780214	0
741	COSM1658859	ADAMTS10	salivary gland,parotid,carcinoma,NS	c.1783T>C	p.S595P	19:8591814-8591814	0
742	COSM1659042		salivary gland,parotid,carcinoma,NS	c.1159T>G	p.Y387D	10:70873450-70873450	0
743	COSM5937391		skin,NS,carcinoma,basal cell carcinoma	c.1726C>T	p.Q576*	9:95476036-95476036	0
744	COSM6172264		skin,NS,carcinoma,basal cell carcinoma	c.379C>T	p.P127S	6:106095702-106095702	0
745	COSM6953810		skin,NS,carcinoma,basal cell carcinoma	c.869C>T	p.P290L	16:2058767-2058767	0
746	COSM6962993		skin,neck,carcinoma,NS	c.1619G>A	p.G540E	20:42352227-42352227	0
747	COSM3675533		skin,face,carcinoma,NS	c.375+1G>A	p.?	17:7675993-7675993	0
748	COSM6912955		skin,NS,carcinoma,basal cell carcinoma	c.5658G>A	p.M1886I	23:71137293-71137293	0
749	COSM6963775		salivary gland,parotid,carcinoma,NS	c.254T>A	p.L85*	23:53217863-53217863	0
750	COSM99602		skin,neck,carcinoma,NS	c.743G>A	p.R248Q	17:7674220-7674220	0
751	COSM6903620		skin,face,carcinoma,NS	c.3154A>C	p.T1052P	9:136508887-136508887	0
752	COSM6921908		skin,NS,carcinoma,basal cell carcinoma	c.547G>A	p.G183R	23:67546263-67546263	0
753	COSM6912895		skin,NS,carcinoma,basal cell carcinoma	c.764C>T	p.S255F	2:98539621-98539621	0
754	COSM6912951		skin,NS,carcinoma,basal cell carcinoma	c.3083C>T	p.P1028L	19:15242986-15242986	0
755	COSM6926816		skin,NS,carcinoma,basal cell carcinoma	c.1172C>T	p.A391V	8:127740765-127740765	0
756	COSM6926837		skin,NS,carcinoma,basal cell carcinoma	c.1031C>T	p.P344L	11:64365425-64365425	0
757	COSM6951254		skin,NS,carcinoma,basal cell carcinoma	c.785T>A	p.L262*	9:95480550-95480550	0
758	COSM139044		skin,face,carcinoma,NS	c.832C>T	p.P278S	17:7673788-7673788	0
759	COSM6903568		skin,face,carcinoma,NS	c.1486A>G	p.S496G	9:136517341-136517341	0
760	COSM6951257		skin,NS,carcinoma,basal cell carcinoma	c.782T>A	p.L261*	9:95480550-95480550	0
761	COSM99667		skin,face,carcinoma,NS	c.307C>T	p.R103*	17:7674945-7674945	0
762	COSM139811		skin,face,carcinoma,NS	c.2468-1G>A	p.?	9:136511272-136511272	0
763	COSM2744631		skin,NS,carcinoma,basal cell carcinoma	c.713G>T	p.C238F	17:7674250-7674250	0
764	COSM3701293		skin,face,carcinoma,NS	c.706T>C	p.Y236H	17:7674257-7674257	0
765	COSM5542940		skin,NS,carcinoma,basal cell carcinoma	c.80C>T	p.S27L	13:28467602-28467602	0
766	COSM6971929		salivary gland,parotid,carcinoma,NS	c.79-2A>G	p.?	16:67029725-67029725	0
767	COSM1640830		skin,neck,carcinoma,NS	c.743G>A	p.R248Q	17:7674220-7674220	0
768	COSM1658869		salivary gland,parotid,carcinoma,NS	c.11321T>A	p.L3774Q	8:47782450-47782450	0
769	COSM3388183		skin,NS,carcinoma,basal cell carcinoma	c.742C>T	p.R248W	17:7674221-7674221	0
770	COSM1649400		salivary gland,parotid,carcinoma,NS	c.713G>A	p.C238Y	17:7674250-7674250	0
771	COSM6903516		skin,face,carcinoma,NS	c.199C>T	p.P67S	9:136523921-136523921	0
772	COSM6926806		skin,NS,carcinoma,basal cell carcinoma	c.3487C>T	p.P1163S	6:157184372-157184372	0
773	COSM1659011		salivary gland,parotid,carcinoma,NS	c.6794C>A	p.S2265Y	13:23337082-23337082	0
774	COSM5752722		skin,face,carcinoma,NS	c.714T>A	p.C238*	17:7674249-7674249	0
775	COSM6953802		skin,NS,carcinoma,basal cell carcinoma	c.1339C>T	p.P447S	9:136517854-136517854	0
776	COSM1158322		salivary gland,parotid,carcinoma,NS	c.1010G>A	p.R337H	11:108247072-108247072	0
777	COSM3562856		skin,NS,carcinoma,basal cell carcinoma	c.142G>A	p.E48K	23:67545858-67545858	0
778	COSM6903694		skin,face,carcinoma,NS	c.4355C>T	p.P1452L	9:136505541-136505541	0
779	COSM6906892		salivary gland,parotid,carcinoma,NS	c.512G>A	p.W171*	2:98537907-98537907	0
780	COSM6936927		skin,NS,carcinoma,basal cell carcinoma	c.286-1G>A	p.?	17:42291971-42291971	0
781	COSM6962972		skin,neck,carcinoma,NS	c.1727G>A	p.S576N	9:8504347-8504347	0
782	COSM3403263		skin,NS,carcinoma,basal cell carcinoma	c.713G>T	p.C238F	17:7674250-7674250	0
783	COSM6912929		skin,NS,carcinoma,basal cell carcinoma	c.1912G>A	p.E638K	12:328891-328891	0
784	COSM1739746		skin,NS,carcinoma,basal cell carcinoma	c.7466C>T	p.S2489F	11:108330372-108330372	0
785	COSM1646810		skin,face,carcinoma,NS	c.832C>T	p.P278S	17:7673788-7673788	0
786	COSM1679494		skin,NS,carcinoma,basal cell carcinoma	c.772G>A	p.E258K	17:7674191-7674191	0
787	COSM6909697		skin,NS,carcinoma,basal cell carcinoma	c.4382C>T	p.S1461F	13:32338737-32338737	0
788	COSM6912957		skin,NS,carcinoma,basal cell carcinoma	c.5658G>A	p.M1886I	23:71137293-71137293	0
789	COSM6926856		skin,NS,carcinoma,basal cell carcinoma	c.679T>A	p.C227S	16:2056674-2056674	0
790	COSM6962978		skin,neck,carcinoma,NS	c.2237C>T	p.S746F	10:121483765-121483765	0
791	COSM99624		skin,NS,carcinoma,basal cell carcinoma	c.713G>T	p.C238F	17:7674250-7674250	0
792	COSM5989694		skin,NS,carcinoma,basal cell carcinoma	c.4045C>T	p.R1349W	9:95447208-95447208	0
793	COSM6903618		skin,face,carcinoma,NS	c.3055C>T	p.Q1019*	9:136508986-136508986	0
794	COSM6962995		skin,neck,carcinoma,NS	c.1607C>T	p.S536L	20:42352239-42352239	0
795	COSM6903796		skin,face,carcinoma,NS	c.7503G>C	p.Q2501H	9:136496236-136496236	0
796	COSM6926787		skin,NS,carcinoma,basal cell carcinoma	c.1462C>G	p.P488A	4:142160459-142160459	0
797	COSM99665		skin,face,carcinoma,NS	c.586C>T	p.R196*	17:7674945-7674945	0
798	COSM6926830		skin,NS,carcinoma,basal cell carcinoma	c.584+1G>A	p.?	9:95485684-95485684	0
799	COSM1640831		skin,face,carcinoma,NS	c.742C>T	p.R248W	17:7674221-7674221	0
800	COSM3395759		skin,face,carcinoma,NS	c.148C>T	p.Q50*	9:21974680-21974680	0
801	COSM6949580		skin,NS,carcinoma,basal cell carcinoma	c.4292C>T	p.A1431V	19:2226813-2226813	0
802	COSM6912928		skin,NS,carcinoma,basal cell carcinoma	c.1344+1G>A	p.?	9:95478054-95478054	0
803	COSM6926825		skin,NS,carcinoma,basal cell carcinoma	c.1774G>A	p.G592S	9:8504309-8504309	0
804	COSM1350749		skin,neck,carcinoma,NS	c.1009C>T	p.R337C	11:108247071-108247071	0
805	COSM3701296		skin,face,carcinoma,NS	c.427T>C	p.Y143H	17:7674257-7674257	0
806	COSM6912953		skin,NS,carcinoma,basal cell carcinoma	c.1679C>T	p.S560F	19:41248788-41248788	0
807	COSM753742		skin,NS,carcinoma,basal cell carcinoma	c.507C>T	p.A169A	9:21971018-21971018	0
808	COSM6903738		skin,face,carcinoma,NS	c.5065T>C	p.S1689P	9:136503284-136503284	0
809	COSM6962951		skin,neck,carcinoma,NS	c.1164-1G>A	p.?	1:243545598-243545598	0
810	COSM1087612		skin,NS,carcinoma,basal cell carcinoma	c.3899G>A	p.R1300K	7:152205168-152205168	0
811	COSM6903704		skin,face,carcinoma,NS	c.4417G>A	p.G1473S	9:136505479-136505479	0
812	COSM6906904		salivary gland,parotid,carcinoma,NS	c.3527C>T	p.S1176F	17:16079986-16079986	0
813	COSM1700913		skin,neck,carcinoma,NS	c.1261C>T	p.P421S	9:8518130-8518130	0
814	COSM2744975		skin,face,carcinoma,NS	c.375+1G>A	p.?	17:7675993-7675993	0
815	COSM6953819		skin,NS,carcinoma,basal cell carcinoma	c.4036G>A	p.G1346R	19:7117169-7117169	0
816	COSM120006		skin,face,carcinoma,NS	c.463C>T	p.R155W	17:7674221-7674221	0
817	COSM1700915		skin,neck,carcinoma,NS	c.1252C>T	p.P418S	9:8518130-8518130	0
818	COSM2813735		skin,NS,carcinoma,basal cell carcinoma	c.3574C>T	p.R1192C	19:11033317-11033317	0
819	COSM6951267		skin,NS,carcinoma,basal cell carcinoma	c.67G>A	p.E23K	16:81786056-81786056	0
820	COSM6962982		skin,neck,carcinoma,NS	c.4377T>G	p.C1459W	11:118488658-118488658	0
821	COSM6983001		salivary gland,parotid,carcinoma,NS	c.503C>A	p.S168*	17:31169914-31169914	0
822	COSM4906064		skin,NS,carcinoma,basal cell carcinoma	c.407C>T	p.P136L	4:142314728-142314728	0
823	COSM6903598		skin,face,carcinoma,NS	c.2578G>A	p.G860S	9:136511161-136511161	0
824	COSM6903919		skin,face,carcinoma,NS	c.260C>A	p.P87Q	17:7676109-7676109	0
825	COSM6912916		skin,NS,carcinoma,basal cell carcinoma	c.14309C>T	p.P4770L	7:152145189-152145189	0
826	COSM129830		skin,NS,carcinoma,basal cell carcinoma	c.839G>A	p.R280K	17:7673781-7673781	0
827	COSM6903632		skin,face,carcinoma,NS	c.3394C>T	p.R1132C	9:136508071-136508071	0
828	COSM1172462		skin,NS,carcinoma,basal cell carcinoma	c.772G>A	p.E258K	17:7674191-7674191	0
829	COSM3522695		skin,face,carcinoma,NS	c.722C>T	p.S241F	17:7674241-7674241	0
830	COSM5610129		skin,NS,carcinoma,basal cell carcinoma	c.2131C>T	p.P711S	9:8499838-8499838	0
831	COSM127094		skin,face,carcinoma,NS	c.317-1G>A	p.?	9:21971209-21971209	0
832	COSM6903763		skin,face,carcinoma,NS	c.5932C>T	p.Q1978*	9:136500554-136500554	0
833	COSM6953787		skin,NS,carcinoma,basal cell carcinoma	c.4885-1G>A	p.?	6:117341312-117341312	0
834	COSM6962950		skin,neck,carcinoma,NS	c.430C>T	p.P144S	1:77966737-77966737	0
835	COSM99626		skin,NS,carcinoma,basal cell carcinoma	c.713G>T	p.C238F	17:7674250-7674250	0
836	COSM1700912		skin,neck,carcinoma,NS	c.1261C>T	p.P421S	9:8518130-8518130	0
837	COSM6926872		skin,NS,carcinoma,basal cell carcinoma	c.1448C>T	p.S483F	19:17838384-17838384	0
838	COSM6962991		skin,neck,carcinoma,NS	c.1369C>T	p.P457S	17:40356221-40356221	0
839	COSM99020		skin,neck,carcinoma,NS	c.743G>A	p.R248Q	17:7674220-7674220	0
840	COSM1658896		salivary gland,parotid,carcinoma,NS	c.3745C>G	p.L1249V	23:71129733-71129733	0
841	COSM5989695		skin,NS,carcinoma,basal cell carcinoma	c.4045C>T	p.R1349W	9:95447208-95447208	0
842	COSM6926848		skin,NS,carcinoma,basal cell carcinoma	c.1276C>T	p.Q426*	12:68839631-68839631	0
843	COSM99021

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

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

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

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

Cosmic variations for Brooke-Spiegler Syndrome: