PTR
MCID: PLM026
MIFTS: 54

Pilomatrixoma (PTR)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pilomatrixoma

MalaCards integrated aliases for Pilomatrixoma:

Name: Pilomatrixoma 58 12 54 26 60 76 30 6 45 15 41 17 74
Pilomatricoma 58 12 54 26 60 38 56
Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 58 13 6
Ptr 58 54 76
Epithelioma Calcificans of Malherbe 58 60
Calcifying Epithelioma of Malherbe 54 26
Benign Pilomatricoma 12 26
Malherbe Calcifying Epithelioma 26
Pilomatricoma, Somatic 58
Benign Pilomatrixoma 26
Pilomatricoma; Ptr 58

Characteristics:

Orphanet epidemiological data:

60
pilomatrixoma
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood;

OMIM:

58
Inheritance:
somatic mutation


HPO:

33

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:5374
OMIM 58 132600
KEGG 38 H00947
MeSH 45 D018296
NCIt 51 C7368
SNOMED-CT 69 44155009
MESH via Orphanet 46 D018296
ICD10 via Orphanet 35 D23.3 D23.4 D23.6
UMLS via Orphanet 75 C0206711
Orphanet 60 ORPHA91414
MedGen 43 C0206711
UMLS 74 C0206711

Summaries for Pilomatrixoma

NIH Rare Diseases : 54 Pilomatrixoma is a benign (non-cancerous) skin tumor of the hair follicle (structure in the skin that makes hair). They tend to develop in the head and neck area and are usually not associated with any other signs and symptoms (isolated). Rarely, pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). Although they can occur in people of all ages, pilomatrixomas are most commonly diagnosed in people under age 20. The exact underlying cause is not well understood; however, somatic changes (mutations) in the CTNNB1 gene are found in most isolated pilomatrixomas. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome; in these cases, affected people usually have other characteristic signs and symptoms of the associated condition. They are usually treated with surgical excision.

MalaCards based summary : Pilomatrixoma, also known as pilomatricoma, is related to pilomatrix carcinoma and epidermoid cysts. An important gene associated with Pilomatrixoma is CTNNB1 (Catenin Beta 1), and among its related pathways/superpathways are Wnt signaling pathway and Focal adhesion. Affiliated tissues include skin, pituitary and bone, and related phenotypes are neoplasm of the skin and pilomatrixoma

Genetics Home Reference : 26 Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pilomatricoma feels like a small, hard lump under the skin. This type of tumor grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single tumor, although rarely multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it tends not to grow back (recur).

UniProtKB/Swiss-Prot : 76 Pilomatrixoma: Common benign skin tumor.

Wikipedia : 77 Pilomatricoma, is a benign skin tumor derived from the hair matrix. These neoplasms are relatively... more...

Description from OMIM: 132600

Related Diseases for Pilomatrixoma

Diseases related to Pilomatrixoma via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 152, show less)
# Related Disease Score Top Affiliating Genes
1 pilomatrix carcinoma 30.4 ENO2 MUC1 TCHH
2 epidermoid cysts 29.8 S100A3 S100B TCHH
3 skin pilomatrix carcinoma 12.0
4 tetralogy of fallot 10.8
5 multiple sclerosis 10.7
6 goblet cell carcinoid 10.4 CTNNB1 ENO2
7 clear cell adenoma 10.3 CTNNB1 S100B
8 bednar tumor 10.3 ENO2 S100B
9 middle cerebral artery infarction 10.3 ENO2 S100B
10 papillary ependymoma 10.3 ENO2 S100B
11 head injury 10.3 ENO2 S100B
12 adenomyoma 10.3 CTNNB1 MUC1
13 sinonasal undifferentiated carcinoma 10.3 ENO2 MUC1
14 pineocytoma 10.3 ENO2 S100B
15 papillary tumor of the pineal region 10.3 ENO2 MUC1
16 middle ear adenoma 10.3 ENO2 MUC1
17 microcystic adenoma 10.3 ENO2 MUC1
18 localized hypertrophic neuropathy 10.3 MUC1 S100B
19 sclerosing perineurioma 10.3 MUC1 S100B
20 perineurioma 10.3 MUC1 S100B
21 reticular perineurioma 10.3 MUC1 S100B
22 clear cell ependymoma 10.3 ENO2 MUC1
23 non-functioning pituitary adenoma 10.3 MUC1 S100B
24 functioning pituitary adenoma 10.3 MUC1 S100B
25 myotonia 10.3
26 syringocystadenoma papilliferum 10.3 MUC1 S100B
27 lobular neoplasia 10.3 CTNNB1 MUC1
28 fibrous meningioma 10.3 MUC1 S100B
29 chordoid meningioma 10.3 MUC1 S100B
30 eccrine porocarcinoma 10.3 MUC1 S100B
31 spindle cell rhabdomyosarcoma 10.3 MUC1 S100B
32 aggressive digital papillary adenocarcinoma 10.3 MUC1 S100B
33 myxopapillary ependymoma 10.3 MUC1 S100B
34 monophasic synovial sarcoma 10.3 MUC1 S100B
35 sclerosing hemangioma 10.3 CTNNB1 MUC1
36 desmoplastic small round cell tumor 10.3 ENO2 MUC1
37 granular cell tumor 10.3 ENO2 S100B
38 mucinous ovarian cystadenoma 10.3 ENO2 MUC1
39 chordoid glioma 10.3 MUC1 S100B
40 embryonal sarcoma 10.3 CTNNB1 S100B
41 spiradenoma 10.3 MUC1 S100B
42 syringoma 10.3 MUC1 S100B
43 extraskeletal ewing sarcoma 10.2 ENO2 MUC1
44 myxofibrosarcoma 10.2 CD36 S100B
45 spondylosis 10.2 ENO2 S100B
46 pleomorphic liposarcoma 10.2 MUC1 S100B
47 lymphoepithelioma-like carcinoma 10.2 ENO2 MUC1
48 anaplastic ependymoma 10.2 MUC1 S100B
49 subependymal giant cell astrocytoma 10.2 ENO2 S100B
50 papilloma of choroid plexus 10.2 MUC1 S100B
51 spindle cell sarcoma 10.2 MUC1 S100B
52 chondroid chordoma 10.2 ENO2 MUC1
53 traumatic brain injury 10.2 ENO2 S100B
54 odontogenic myxoma 10.2 CD36 S100B
55 dendritic cell tumor 10.2 MUC1 S100B
56 liver angiosarcoma 10.2 ENO2 YAP1
57 olfactory neuroblastoma 10.2 ENO2 S100B
58 duodenum cancer 10.1 ENO2 MUC1 MUTYH
59 polymorphous low-grade adenocarcinoma 10.1 CTNNB1 MUC1 S100B
60 cystadenoma 10.1
61 craniopharyngioma 10.1
62 meibomian cyst 10.1
63 myotonic dystrophy 10.1
64 myotonia atrophica 10.1
65 hemangiopericytoma, malignant 10.1 MUC1 S100B
66 intracranial cysts 10.1 ENO2 MUC1 S100B
67 epithelioid malignant peripheral nerve sheath tumor 10.1 ENO2 MUC1 S100B
68 ossifying fibromyxoid tumor 10.1 ENO2 MUC1 S100B
69 meningeal melanocytoma 10.1 ENO2 MUC1 S100B
70 cerebral primitive neuroectodermal tumor 10.1 ENO2 MUC1 S100B
71 optic nerve glioma 10.1 ENO2 MUC1 S100B
72 hemangioblastoma 10.1 ENO2 MUC1 S100B
73 ependymoma 10.1 ENO2 MUC1 S100B
74 granulomatosis with polyangiitis 10.1
75 disease of mental health 10.1
76 familial adenomatous polyposis 1 10.1
77 chromosomal triplication 10.1
78 intraneural perineurioma 10.1 MUC1 S100B
79 mixed ductal-endocrine carcinoma 10.1 ENO2 MUC1
80 hair follicle neoplasm 10.0 CTNNB1 S100A3 TCHH
81 breast cancer 10.0
82 basal cell carcinoma 1 10.0
83 squamous cell carcinoma 10.0
84 basal cell carcinoma 10.0
85 adenocarcinoma 10.0
86 teratoma 10.0
87 turner syndrome 10.0
88 adenoid cystic carcinoma 10.0 CTNNB1 MUC1 S100B
89 kabuki syndrome 1 10.0
90 alopecia 10.0
91 tuberous sclerosis 10.0
92 melanoma 10.0
93 keratoacanthoma 10.0
94 brachydactyly, type b1 10.0 BMP4 CTNNB1
95 cholangiocarcinoma 10.0 CTNNB1 MUC1 YAP1
96 malignant fibroxanthoma 10.0 MUC1 S100B
97 medulloblastoma 9.9
98 neurofibromatosis, type i 9.9
99 neurofibromatosis, type iv, of riccardi 9.9
100 retinoblastoma 9.9
101 triiodothyronine receptor auxiliary protein 9.9
102 langerhans cell histiocytosis 9.9
103 nasopharyngeal carcinoma 9.9
104 chromosome 16p13.3 deletion syndrome, proximal 9.9
105 hemangioma 9.9
106 familial adenomatous polyposis 9.9
107 ameloblastoma 9.9
108 melanoma in congenital melanocytic nevus 9.9
109 patulous eustachian tube 9.9
110 sialolithiasis 9.9
111 calcinosis 9.9
112 dermoid cyst 9.9
113 capillary hemangioma 9.9
114 histiocytosis 9.9
115 bilateral retinoblastoma 9.9
116 mature teratoma 9.9
117 corneal ulcer 9.9
118 synovial chondromatosis 9.9 BMP2 BMP4
119 fibrochondrogenesis 9.9 BMP2 BMP4
120 pericardial mesothelioma 9.9 ENO2 MUC1
121 osseous heteroplasia, progressive 9.8 BMP2 BMP4
122 sotos syndrome 1 9.8
123 nevus, epidermal 9.8
124 keratosis, seborrheic 9.8
125 neural tube defects 9.8
126 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.8
127 pituitary hormone deficiency, combined, 2 9.8
128 xeroderma pigmentosum, variant type 9.8
129 hemophagocytic lymphohistiocytosis, familial, 2 9.8
130 psoriasis 7 9.8
131 psoriasis 11 9.8
132 psoriasis 13 9.8
133 helix syndrome 9.8
134 hepatitis 9.8
135 keloids 9.8
136 lymphoma 9.8
137 hepatitis a 9.8
138 hypermobility syndrome 9.8
139 keratosis 9.8
140 churg-strauss syndrome 9.8
141 seminoma 9.8
142 adenosquamous carcinoma 9.8
143 neurotic disorder 9.8
144 gliomatosis cerebri 9.8
145 influenza 9.8
146 psoriasis 9.8
147 mutyh-associated polyposis 9.8
148 allergic angiitis 9.8
149 eosinophilic granulomatosis with polyangiitis 9.8
150 pyogenic granuloma 9.8
151 sternal cleft 9.8
152 osteofibrous dysplasia 9.8 BMP2 CD36 MUC1

Graphical network of the top 20 diseases related to Pilomatrixoma:



Diseases related to Pilomatrixoma

Symptoms & Phenotypes for Pilomatrixoma

Human phenotypes related to Pilomatrixoma:

33 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 neoplasm of the skin 33 HP:0008069
2 pilomatrixoma 33 HP:0030434

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
pilomatrixoma
superficial, firm, circumscribed nodule
usually occurs in the head and neck area
derived from hair matrix cells
histology shows exterior zone of densely packed, small basophilic cells
more

Clinical features from OMIM:

132600

MGI Mouse Phenotypes related to Pilomatrixoma:

47 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 taste/olfaction MP:0005394 8.8 CD36 CTNNB1 ENO2

Drugs & Therapeutics for Pilomatrixoma

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Use of Otoscope as a Non-Invasive Tool for Diagnosis of Pilomatricoma Unknown status NCT00715819
2 Clinical Trial Comparing Tissue Adhesive Vs. Absorbable Suture Vs. Non-Absorbable Suture Unknown status NCT00292513 Not Applicable

Search NIH Clinical Center for Pilomatrixoma

Cochrane evidence based reviews: pilomatrixoma

Genetic Tests for Pilomatrixoma

Genetic tests related to Pilomatrixoma:

# Genetic test Affiliating Genes
1 Pilomatrixoma 30 CTNNB1 MUTYH

Anatomical Context for Pilomatrixoma

MalaCards organs/tissues related to Pilomatrixoma:

42
Skin, Pituitary, Bone, Ovary, Cortex, Brain, Pineal

Publications for Pilomatrixoma

Articles related to Pilomatrixoma:

(showing 513, show less)
# Title Authors Year
1
Patient Perspectives: What is a pilomatricoma? ( 30675939 )
2019
2
Giant pilomatricoma on the upper back. ( 30719991 )
2019
3
Epidermal Cyst on the Face of a Child, Clinically and Dermoscopically Mimicking Pilomatricoma. ( 30775146 )
2019
4
Neurosis and true dermatosis: a case of ossified pilomatricoma developing within a self-inflicted ulcer. ( 30865412 )
2019
5
Preauricular Pilomatricoma Manifesting as an Aggressive Mass. ( 30918611 )
2019
6
Colossal pilomatrixoma. ( 29182000 )
2018
7
Fine needle aspiration of pilomatrixoma: Cytologic features on thinprep and diagnostic pitfalls. ( 29464894 )
2018
8
Rare case of pilomatrixoma of the lower eyelid following blunt trauma. ( 29763996 )
2018
9
Pilomatrixoma: A Comprehensive Review of the Literature. ( 30119102 )
2018
10
A new case of the pilomatrixoma rare in the preauricular region and review of series of cases. ( 30284072 )
2018
11
Aggressive metastatic malignant pilomatrixoma followed by 18F-FDG PET/CT. ( 30424974 )
2018
12
Pilomatrixoma Masquerading as Giant Chalazion. ( 30454715 )
2018
13
Calcifying epithelioma of malherbe (Pilomatrixoma): Clinical and sonographic features. ( 28677820 )
2018
14
Coexistence of keloids and pilomatricoma in a patient with Rubinstein-Taybi syndrome. ( 29469775 )
2018
15
Pilomatricoma: An unusual cause of lump in a male breast. ( 28555882 )
2018
16
Slowly growing mass on the left shoulder. Pilomatricoma. ( 28852770 )
2018
17
Proliferating Pilomatricoma Mimicking a Malignant Tumor. ( 29106839 )
2018
18
Importance of Individual Ghost Cells in Fine-Needle Aspiration Cytology Diagnosis of Pilomatricoma. ( 29370510 )
2018
19
Giant Pilomatricoma Arising as a Rapidly Growing Vascularized Tumor in a Child. ( 29533276 )
2018
20
Pilomatricoma with bullous-like/anetodermic appearance: Possibly associated with matrix metalloproteinases. ( 29682830 )
2018
21
Early Stage of Pilomatricoma with an Empty Cyst Cavity and Unusual Clinical Appearance. ( 29946220 )
2018
22
Pilomatricoma of the scalp mimicking poorly differentiated cutaneous carcinoma on positron emission tomography/computed tomography (PET/CT) scan and fine-needle aspiration (FNA) cytology. ( 29984278 )
2018
23
Pilomatricoma (calcifying epithelioma): MDCT and MR imaging findings in 31 patients with radiological-pathological correlation. ( 30150057 )
2018
24
Cytopathological findings of proliferating pilomatricoma misdiagnosed as a malignant parotid gland tumor. ( 30153836 )
2018
25
A patient with pilomatricoma in the parotid region: case report and review of the literature. ( 30534834 )
2018
26
Malignant pilomatricoma of the cheek in an infant. ( 30613091 )
2018
27
A Case of Exophytic Pilomatricoma Clinically Resembling Keratoacanthoma. ( 28392667 )
2017
28
Pilomatrixoma of the Neck/Shoulder Region Mimicking a Rapidly Growing Neoplasm of Peripheral Nerve Sheath Origin in Neurofibromatosis Type 1. ( 29187472 )
2017
29
Pilomatrixoma located on the cruris: an uncommon localization. ( 28690776 )
2017
30
Pilomatrixoma or a "hair line fracture". ( 28657285 )
2017
31
Eyelid pilomatrixoma masquerading as chalazion. ( 28457306 )
2017
32
Metastatic endometrial endometrioid carcinoma mimicking pilomatrixoma of the distal vagina. ( 28130284 )
2017
33
Parotid cyst due to sialolithiasis masquerading as pilomatrixoma on FNA. ( 27943427 )
2017
34
Metastatic Malignant Pilomatrixoma in an 8-Year-Old Girl Misdiagnosed as a Recurrent Pilomatrixoma. ( 27673386 )
2017
35
Ulcerated giant pilomatricoma with appearance of cutaneous malignancy on positron emission tomography/computed tomography. ( 27207071 )
2017
36
Giant proliferating pilomatricoma; report of a rare entity. ( 27301983 )
2017
37
Pilomatricoma Associated with Kabuki Syndrome. ( 27778401 )
2017
38
Preauricular pilomatricoma: An uncommon entity in a dental pediatric patient. ( 27907820 )
2017
39
Anetodermic pilomatricoma: clinical, histopathologic, and sonographic findings. ( 28329524 )
2017
40
Punch and Scoop Technique for Removing Pilomatricoma. ( 28783214 )
2017
41
Malignant pilomatricoma in a dog with local and distant metastases treated with chemotherapy and bisphosphonates. ( 28795016 )
2017
42
Malignant Pilomatricoma: A Report of Two Cases and Review of Literature. ( 28892916 )
2017
43
Updated view on epidemiology and clinical aspects of pilomatricoma in adults. ( 28895117 )
2017
44
Proliferative pilomatricoma of the eyebrow in a 94-year-old patient. ( 29236266 )
2017
45
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
46
Pilomatricoma presenting with localized alopecia. ( 27121998 )
2016
47
A Rare Case of Pilomatrixoma (Calcifying Epithelioma of Malherbe) of Parotid Space Masquerading as Salivary Gland Tumor. ( 28855935 )
2016
48
Pilomatrixoma of the breast in a patient with type 1 myotonic dystrophy: successful surgical approach. ( 27373126 )
2016
49
Dermoid Cyst of Submental Region Mimicking Pilomatricoma. ( 27408466 )
2016
50
A Rapidly Enlarging Recurrent Eyebrow Pilomatrixoma in a Nonagenarian. ( 25514663 )
2016
51
Pilomatrixoma: An Uncommon Tumor of the Brow. ( 26707438 )
2016
52
Multiple familial pilomatrixomas in the absence of other clinical features: a case of familial benign pilomatrixoma. ( 26820789 )
2016
53
Complicated Giant Pilomatrixoma of the Parotid Region. ( 26929562 )
2016
54
Pilomatrixoma is a diagnostic trap in fine-needle aspiration cytology of the parotid region. ( 26991211 )
2016
55
Pilomatrixoma of the Eyebrow in an 11-Year-Old Child. ( 27224956 )
2016
56
Review of pediatric head and neck pilomatrixoma. ( 27240514 )
2016
57
Rapid growth of pilomatrixoma after surgical trauma. ( 27318629 )
2016
58
Pilomatrixoma Arising Juxtaposed to Congenital Melanocytic Nevi: Concern for Malignant Degeneration? A Previously Unreported Association. ( 27563370 )
2016
59
A lesson learnt: retrospection in a case of pilomatricoma mimicking as parotid neoplasm. ( 26537510 )
2016
60
Pilomatricoma of Childhood: A Common Pathologic Diagnosis Yet a Rare Radiologic One. ( 26700350 )
2016
61
Uncommon benign tumour of the skin: infraorbital pilomatricoma. ( 26740272 )
2016
62
IMAGING DIAGNOSIS-NUCLEAR SCINTIGRAPHIC, RADIOLOGICAL, AND PATHOLOGIC CHARACTERISTICS OF METASTATIC PILOMATRICOMA IN A DOG. ( 26857288 )
2016
63
Activation of the OVOL1-OVOL2 Axis in the Hair Bulb and in Pilomatricoma. ( 26873447 )
2016
64
Pilomatricoma Mimicking Ruptured Epidermal Cyst in a Middle Aged Woman. ( 26955103 )
2016
65
A case of pigmented pilomatricoma (calcifying epithelioma): the role of mast cells in pigmentation. ( 26985675 )
2016
66
Giant Pilomatricoma of the arm: A diagnostic challenge for cytopathologist. ( 27127379 )
2016
67
IL-8, IL-8RA (CXCR1) and IL-8RB (CXCR2) expression in pilomatricoma. ( 27151689 )
2016
68
Extramedullary Haematopoiesis in a Case of Pilomatricoma. ( 27504303 )
2016
69
Cutaneous Hybrid Tumor Composed of Epidermal Cyst and Cystic Pilomatricoma: Unusual Presentation in a Child. ( 28442881 )
2016
70
A Bullous Pilomatricoma Developed after Hepatitis A Vaccination. ( 26360695 )
2015
71
Ghost cells in pilomatrixoma, craniopharyngioma, and calcifying cystic odontogenic tumor: histological, immunohistochemical, and ultrastructural study. ( 25047924 )
2015
72
Periocular pilomatrixoma: a retrospective analysis of 16 cases. ( 24801260 )
2015
73
A tumor in images: anetodermic pilomatrixoma. ( 25439144 )
2015
74
YAP immunoreactivity is directly related to pilomatrixoma size and proliferation rate. ( 25516090 )
2015
75
Giant pilomatrixoma presenting in the posterior thorax, a rare location and the largest described. ( 25763287 )
2015
76
Giant pilomatrixoma: conventional and diffusion-weighted magnetic resonance imaging findings. ( 25798014 )
2015
77
Inflammatory pseudotumor of eyelid: a probable IgG4-related sclerosing disease clinically mimicking eyelid pilomatrixoma. ( 25880568 )
2015
78
Rapid Onset of Eyebrow Pilomatrixoma After Blunt Trauma. ( 26043378 )
2015
79
Pilomatrixoma: A Benign Appendageal Tumor not Uncommon in Children. ( 26724887 )
2015
80
Pilomatrixoma Presenting as a Rapidly Expanding Mass of the Infant Nasion. ( 28694911 )
2015
81
Basaloid follicular hyperplasia of the overlying epidermis of pilomatricoma. ( 25311089 )
2015
82
Perforating pilomatricoma presenting as an ulcer in the helix of the pinna. ( 25440937 )
2015
83
TGF-β1-dependent induction and nuclear translocation of FHL2 promotes keratin expression in pilomatricoma. ( 25477051 )
2015
84
Pilomatricoma with a bullous appearance. ( 25566912 )
2015
85
An ulcerated giant pilomatricoma mimicking malignancy. ( 25819243 )
2015
86
Can we confidently diagnose pilomatricoma with fine needle aspiration cytology? ( 25892955 )
2015
87
Proliferating pilomatricoma--Case report. ( 26312685 )
2015
88
A rare variant of pilomatricoma: pseudobullous pilomatricoma. ( 26399843 )
2015
89
Bullous pilomatricoma: a rarely reported variant of pilomatricoma. ( 26437288 )
2015
90
Giant pilomatricoma with angiomyxoid stroma: Unusual presentation of a benign tumor. ( 27051720 )
2015
91
Pilomatricoma of the male breast: sonographic mammographic MRI features with pathologic correlation. ( 25123419 )
2015
92
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
93
FDG-PET positive pilomatrixoma--reconsidering multicentricity in Langerhans cell histiocytosis. ( 25088109 )
2014
94
Anetodermic pilomatricoma in a patient with hypermobility syndrome. ( 24313889 )
2014
95
Pediatric parotideomasseteric pilomatrixoma in children. ( 24077233 )
2014
96
Giant pilomatrixoma of the right arm. ( 24682565 )
2014
97
Characteristics of pilomatrixoma in children: a review of 137 patients. ( 24954158 )
2014
98
Aggressive pilomatrixoma: a diagnostic dilemma on fine-needle aspiration cytology with review of literature. ( 24964995 )
2014
99
Pilomatrixoma-like testicular tumour without teratomatous elements. ( 24966256 )
2014
100
Three different dermoscopic view of three new cases with pilomatrixoma. ( 25114449 )
2014
101
Pilomatrixoma in childhood. ( 25313737 )
2014
102
Pilomatrixoma masquerading as metastatic adenocarcinoma. A diagnostic pitfall on cytology. ( 25478356 )
2014
103
Fine-needle aspiration cytology of pilomatrixoma: A short series of three cases. ( 25506386 )
2014
104
Periocular pilomatrixoma: case report. ( 25509249 )
2014
105
Pilomatrixoma localized in the arm and forearm. ( 26078686 )
2014
106
Calcific neck mass in an adolescent girl. Pilomatricoma with heterotopic ossification. ( 25211388 )
2014
107
Perforating pilomatricoma in a 62-year-old female: a rare case report. ( 25368474 )
2014
108
Seemingly insignificant, but crucial cytomorphological leads in diagnosis of pilomatricoma of parotid region. ( 25368475 )
2014
109
Pilomatricoma arising at an influenza vaccination site. ( 25396196 )
2014
110
Pilomatricoma: an unusual presentation. ( 25473249 )
2014
111
A Recurrent Giant Pilomatricoma on the Back. ( 28913209 )
2014
112
Malignant pilomatricoma: two new observations and review of the relevant literature. ( 24448707 )
2014
113
Pilomatricoma of the cheek: a benign tumor mimicking metastatic squamous cell carcinoma on FDG PET/CT. ( 24457127 )
2014
114
Rapidly growing blue-red nodule on the cheek of a 4-year-old boy. Pilomatricoma. ( 24533883 )
2014
115
Retrospective study of pilomatricoma: 261 tumors in 239 patients. ( 24838222 )
2014
116
Pilomatrixoma in a patient with bilateral retinoblastoma. ( 23313048 )
2013
117
Cystic pilomatrixoma of the wrist mimicking a ganglion cyst in a child. ( 22531962 )
2013
118
Metastatic malignant pilomatrixoma, acanthomatous ameloblastoma, and liver tumor in a dog with polyphagia, polyuria, polydipsia, and weight loss. ( 24082168 )
2013
119
Ulcerated giant pilomatrixoma in a child. ( 23540592 )
2013
120
An unusual presentation of giant pilomatrixoma in an adult patient. ( 23858343 )
2013
121
Uterine endometrioid adenocarcinoma with extensive pilomatrixoma-like areas. A case report. ( 23858944 )
2013
122
Patient profile and outcome of pilomatrixoma in district general hospital in United kingdom. ( 24023435 )
2013
123
Pilomatrixoma - Presented as Hypopigmented Tender Nodule: Diagnosed by FNAC: A Case Report with Review of Literature. ( 24082196 )
2013
124
Pilomatrixoma of the breast, a rare lesion simulating breast cancer: a case report. ( 24421922 )
2013
125
Pilomatrixoma of left shoulder in an elderly female: a case report. ( 25722828 )
2013
126
Giant pilomatricoma in a patient with tuberous sclerosis, both diagnosed in the adult life. ( 23988820 )
2013
127
Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study. ( 23426075 )
2013
128
Perforating pilomatricoma with anetodermic epidermis in an adolescent with lymphoma. ( 22937738 )
2013
129
Bullous pilomatricoma. ( 23238218 )
2013
130
Pilomatricoma of the pinna. ( 23354890 )
2013
131
Malignant pilomatricoma with multiple bone metastases in a dog: Histological and immunohistochemical study. ( 23596465 )
2013
132
Anetodermic pilomatricoma: report of three cases. ( 23679881 )
2013
133
Cutaneous hybrid tumor composed of epidermal cyst and cystic pilomatricoma expressing p53 and high Ki-67 labeling. ( 23696941 )
2013
134
Bullous pilomatricoma: a rare variant resembling bouncy ball. ( 23960395 )
2013
135
Pigmented pilomatricoma: an underrecognized variant. ( 24040455 )
2013
136
Follicular hybrid cyst: a combination of bullous pilomatricoma and epidermoid cyst. ( 24294394 )
2013
137
Pilomatricoma of the breast in an adolescent girl: sonographic findings. ( 27277104 )
2013
138
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
139
Proliferating type pilomatricoma presenting with alopecia. ( 22641060 )
2012
140
Immunohistochemical expression of podoplanin in so-called hard α-keratin-expressing tumors, including calcifying cystic odontogenic tumor, craniopharyngioma, and pilomatrixoma. ( 22790409 )
2012
141
Pilomatrixoma, a misdiagnosed lesion: two pediatric case reports. ( 22370580 )
2012
142
Limits of fine-needle aspiration cytology in diagnosing pilomatrixoma: a series of 25 cases with clinico-pathologic correlations. ( 22615520 )
2012
143
Imaging and review of a large pre-auricular pilomatrixoma in a child. ( 22761984 )
2012
144
Hybrid odontogenic ghost cell tumor and cutaneous pilomatrixoma: a highly unusual coexistence. ( 22801122 )
2012
145
Malignant pilomatrixoma arising on the previously irradiated face: case report and literature review. ( 22971309 )
2012
146
Pilomatrixoma: an infrequently encountered lesion on the lower extremity. ( 23001736 )
2012
147
Recurrent giant pilomatrixoma of the face: a case report and review of the literature. ( 23119187 )
2012
148
Pilomatrixoma of the arm: a rare case with cytologic diagnosis. ( 23259079 )
2012
149
Cytodiagnosis of pilomatrixoma from an uncommon site with unusual presentation. ( 23766616 )
2012
150
Pilomatricoma coexistent with epidermal cyst. ( 21974726 )
2012
151
Pilomatricoma. ( 22278863 )
2012
152
Anetodermic pilomatricoma: molecular characteristics and trauma in the development of its bullous appearance. ( 22307232 )
2012
153
Malignant pilomatricoma in a dog. ( 22520811 )
2012
154
Pilomatricoma of the upper arm in an orthopaedic clinic. ( 22572401 )
2012
155
FDG PET/CT appearance of benign pilomatricoma. ( 22691514 )
2012
156
Bullous pilomatricoma: a stage in transition to secondary anetoderma? ( 22772621 )
2012
157
Magnetic resonance imaging of a cystic pilomatricoma in an ankle joint. ( 23027499 )
2012
158
The skin crease sign: a diagnostic sign of pilomatricoma. ( 23062909 )
2012
159
Pilomatricoma: an unusual dermatologic neoplasm. ( 23115748 )
2012
160
Photoletter to the editor: Proliferating pilomatricoma with no recurrence during a 3-year follow-up. ( 23329994 )
2012
161
Pilomatrixoma imitating infantile hemangioma. ( 21415649 )
2011
162
Re: "Multiple pilomatrixoma in Turner syndrome". ( 20502371 )
2011
163
Pilomatrixoma. Review of 205 cases. ( 20711110 )
2011
164
Differentiation and apoptosis in pilomatrixoma. ( 21239898 )
2011
165
Fine needle aspiration cytology of pilomatrixoma. ( 21552399 )
2011
166
Radiology quiz case 2. Pilomatrixoma. ( 21576567 )
2011
167
Pilomatrixoma of eyelid in a middle aged. ( 21587326 )
2011
168
Malherbe's Calcifying Epithelioma (Pilomatrixoma): An Uncommon Periocular Tumor. ( 21769234 )
2011
169
Pilomatrixoma. ( 21874815 )
2011
170
Pilomatrixoma of the adult male breast: a rare tumor with typical ultrasound features. ( 21977385 )
2011
171
Giant pilomatricoma involving the parotid: case report and literature review. ( 20417111 )
2011
172
Head and neck pilomatricoma: an analysis of 201 cases. ( 20594627 )
2011
173
Comparative immunohistochemical analyses on the modes of cell death/keratinization in epidermal cyst, trichilemmal cyst, and pilomatricoma. ( 21048491 )
2011
174
Auricle pilomatricoma. ( 21106205 )
2011
175
Pilomatricoma with bullous appearance: a case report and review of literature. ( 21506983 )
2011
176
Proliferating pilomatricoma. ( 21915038 )
2011
177
Giant pilomatricoma mimicking a malignant parotid mass. ( 21930004 )
2011
178
Forearm pilomatricoma with extensive ossification. ( 22223988 )
2011
179
Pilomatricoma: Forget me not. ( 23130229 )
2011
180
Basal cell carcinoma and pilomatrixoma mirror human follicular embryogenesis as reflected by their differential expression patterns of SOX9 and β-catenin. ( 20105172 )
2010
181
Pilomatrix carcinoma arising from pilomatricoma after 10-year senescent period: Immunohistochemical analysis. ( 20649718 )
2010
182
Pilomatrixoma mimicking breast cancer in man. ( 19825002 )
2010
183
Three cases of giant pilomatrixoma--considerations for diagnosis and treatment of giant skin tumours with abundant inner calcification present on the upper body. ( 20080452 )
2010
184
A very rare localisation of pilomatrixoma. ( 20429326 )
2010
185
Cystic pilomatrixoma: a diagnostic challenge. ( 20713764 )
2010
186
Pediatric pilomatrixoma of the preauricular region. ( 20968163 )
2010
187
Pilomatrixoma misdiagnosed as round cell tumor on fine-needle aspiration cytology. ( 21131775 )
2010
188
Pilomatrixoma of the head and neck in children. ( 21384737 )
2010
189
Malignant pilomatricoma in a soft-coated Wheaten Terrier. ( 19886971 )
2010
190
Additional cytomorphological criteria in diagnosis of pilomatricoma--benign tumor with bad reputation. ( 20432739 )
2010
191
Pilomatricoma of the arm with extensive ossification. ( 20439187 )
2010
192
Malignant pilomatricoma in 3 dogs. ( 20466858 )
2010
193
Trisomy 18 is a consistent cytogenetic feature in pilomatricoma. ( 20495544 )
2010
194
Pilomatricoma in children: common but often misdiagnosed. ( 20514848 )
2010
195
The Immunohistochemical Patterns of the beta-Catenin Expression in Pilomatricoma. ( 20711264 )
2010
196
Diagnosis of pilomatricoma using an otoscope. ( 20807359 )
2010
197
Pilomatricoma: a tumor with hidden depths. ( 20826995 )
2010
198
Cutaneous angiomyxoma and pilomatricoma: a new combination. ( 20850694 )
2010
199
Epidermal cyst with pilomatricoma (follicular hybrid cyst): immunohistochemical study with epithelial keratins and filaggrin. ( 20860748 )
2010
200
Where pigmented pilomatricoma and melanocytic matricoma collide. ( 20881831 )
2010
201
Pilomatricoma as a diagnostic pitfall in clinical practice: report of two cases and review of literature. ( 21430899 )
2010
202
Giant pilomatricoma and psoriasis vulgaris with myotonic dystrophy. ( 19527986 )
2009
203
Recurrent malignant pilomatrixoma invading the cranial cavity: Improved local control with adjuvant radiation. ( 19453540 )
2009
204
Multiple pilomatrixoma in Turner syndrome. ( 19454938 )
2009
205
Pilomatrixoma of the forearm: a case report. ( 19742099 )
2009
206
Pilomatrixoma in the head and neck. ( 19784434 )
2009
207
Fine needle aspiration cytology of pilomatrixoma and differential diagnoses. ( 20014559 )
2009
208
Pilomatrixoma of earlobe. ( 20300371 )
2009
209
Pilomatrixoma: Misdiagnosed as a round cell tumor of soft tissue on fine needle aspiration cytology. ( 21938173 )
2009
210
Anetodermic pilomatricoma in a patient with tuberous sclerosis. ( 19548951 )
2009
211
Anetodermic pilomatricoma. ( 18715255 )
2009
212
Proliferating pilomatricoma. ( 19106057 )
2009
213
Giant pilomatricoma: a benign tumor in an uncommon presentation. ( 19324227 )
2009
214
Bullous pilomatricoma: a particular and rare dermal bullous disorder. ( 19326011 )
2009
215
Pilomatricoma: a review of six pediatric cases with nine lesions. ( 19378890 )
2009
216
Pilomatricoma can differentiate not only towards hair matrix and hair cortex, but also follicular infundibulum, outer root sheath and hair bulge. ( 19469893 )
2009
217
Evaluation of characteristics of patients with pilomatricoma in Mazandaran Province, 1996-2006. ( 19580010 )
2009
218
Picture of the month. Eyelid pilomatricoma. ( 19805716 )
2009
219
Malignant pilomatricoma in the upper eyelid. ( 21686824 )
2009
220
Rapidly growing pilomatrixoma on eyebrow. ( 18158418 )
2008
221
Pilomatrixoma: late onset in two periocular cases. ( 18209650 )
2008
222
Pilomatrixoma in an infant: diagnostic challenges of fine-needle aspiration. ( 18799943 )
2008
223
Eyelid pilomatrixoma: a description of 16 cases and a review of the literature. ( 18929763 )
2008
224
A giant upper eyelid ossifying pilomatrixoma. ( 18974526 )
2008
225
Giant pilomatricoma (pilomatrixoma) following an intramuscular injection. ( 21886704 )
2008
226
Pilomatrixoma of the eyelid. ( 21886706 )
2008
227
Multiple pilomatricoma in the context of previous seminoma: discussion on the possible relationship. ( 18358105 )
2008
228
Multiple giant pilomatricoma in familial Sotos syndrome. ( 18304174 )
2008
229
Proliferating pilomatricoma: a subset of pilomatricoma. ( 17459800 )
2008
230
Malignant pilomatricoma in a child with a previous vascular malformation. ( 17884262 )
2008
231
Anetodermic pilomatricoma with perforation. ( 18280371 )
2008
232
Growth hormone therapy in boy with panhypopituitarism may induce pilomatricoma recurrence: case report. ( 18283258 )
2008
233
Pilomatricoma: magnetic resonance imaging and pathological evaluation. ( 18379325 )
2008
234
Clinical and histopathologic study of pilomatricoma in Iran between 1992 and 2005. ( 18429799 )
2008
235
Pilomatricoma in children: a frequently misdiagnosed superficial tumor. ( 18728971 )
2008
236
Pilomatricoma: a dermal analog of calcifying odontogenic cyst. ( 18797106 )
2008
237
Anetodermic variant of a periorbital pilomatricoma. ( 18806673 )
2008
238
Pilomatricoma mimicking small round cell tumor on fine needle aspiration cytology: a case report. ( 18833830 )
2008
239
Pilomatricoma: Sonographic features. ( 23396664 )
2008
240
Giant pilomatrixoma (benign calcifying epithelioma of Malherbe) of the neck and face. ( 17338693 )
2007
241
Pseudoglandular pattern of basaloid cells in pilomatrixoma in the needle aspiration cytology: a case report. ( 17474263 )
2007
242
Pilomatrixoma: never lower your guard. ( 17580349 )
2007
243
Pilomatrixoma: a potential diagnostic pitfall in aspiration cytology. ( 17635163 )
2007
244
Pilomatrixoma as a diagnostic pitfall in fine needle aspiration cytology: a case report. ( 17718128 )
2007
245
Pilomatrixoma of the ear helix. ( 17987773 )
2007
246
Multifocal type of pilomatrixoma. ( 18217427 )
2007
247
Proliferating pilomatricoma mimicking pyogenic granuloma. ( 17447989 )
2007
248
Intraosseous pilomatricoma: a possible rare skeletal manifestation of Gardner syndrome. ( 17235575 )
2007
249
Pilomatricoma of the maxillofacial area in the northern regional Jordanian population: Report of 31 cases. ( 17236931 )
2007
250
A rare presentation of giant pilomatricoma located on the back. ( 17451583 )
2007
251
Giant pilomatricoma. ( 17519628 )
2007
252
Pilomatricoma in a case of familial xeroderma pigmentosum. ( 17558059 )
2007
253
Pilomatricoma: diagnostic pitfalls in PET/CT and fine-needle aspiration biopsy. ( 17967662 )
2007
254
Pilomatricoma: experience of the hospital for sick children. ( 19554149 )
2007
255
[Breast pilomatrixoma manifested as microcalcifications on mammography: report of two cases]. ( 17878857 )
2007
256
FNA of pilomatrixoma: smear vs. cell block. ( 16604558 )
2006
257
Large, rapidly growing pilomatrixoma of the upper eyelid. ( 16985434 )
2006
258
Pilomatrixoma--accuracy of clinical diagnosis. ( 17011283 )
2006
259
Expression patterns of hair and epithelial keratins and transcription factors HOXC13, LEF1, and beta-catenin in a malignant pilomatricoma: a histological and immunohistochemical study. ( 16441405 )
2006
260
Pilomatricoma arising at a BCG vaccination site. ( 16487123 )
2006
261
Perforating pilomatricoma on the upper eyelid. ( 16633193 )
2006
262
A case of perforating pilomatricoma. ( 16700828 )
2006
263
Giant pilomatricoma associated with hypercalcaemia and elevated levels of parathyroid hormone-related protein. ( 16792779 )
2006
264
Pilomatricoma in a pediatric patient. ( 16906390 )
2006
265
Multiple giant pilomatricoma. ( 16958813 )
2006
266
Pilomatricomal horn: a new superficial variant of pilomatricoma. ( 17012919 )
2006
267
Follicular germinative cells in pilomatricoma. ( 17122495 )
2006
268
Malignant pilomatricoma in the parietal area. ( 17189991 )
2006
269
Fine-needle aspiration cytology of pilomatrixoma of the arm and the role of cell block examination in the diagnosis. ( 15584041 )
2005
270
Concomitant pilomatrixoma and peripheral schwannoma in a child. ( 15640970 )
2005
271
Aberrantly differentiated cells in benign pilomatrixoma reflect the normal hair follicle: immunohistochemical analysis of Ca-binding S100A2, S100A3 and S100A6 proteins. ( 15727645 )
2005
272
Pilomatrixoma breast mimicking carcinoma. ( 15857602 )
2005
273
Diagnosis of pilomatrixoma in childhood. ( 15861101 )
2005
274
Pilomatrixoma: a diagnostic pitfall in fine-needle aspiration biopsies. A review from a small county hospital. ( 16001465 )
2005
275
Aggressive pilomatrixoma of the infra-auricular area: a case report. ( 16198080 )
2005
276
Micro-Raman spectroscopy used to identify and grade human skin pilomatrixoma. ( 16228983 )
2005
277
Expression of hard alpha-keratins in pilomatrixoma, craniopharyngioma, and calcifying odontogenic cyst. ( 15716233 )
2005
278
Inverted malignant pilomatricoma of the neck. ( 15258812 )
2005
279
Bone morphogenetic protein-mediated type II collagen expression in pilomatricoma and cutaneous mixed tumor. ( 15701082 )
2005
280
Papillary endothelial hyperplasia and dilated lymphatic vessels in bullous pilomatricoma. ( 15823913 )
2005
281
Pilomatricoma in childhood: a retrospective study from three European paediatric centres. ( 16041525 )
2005
282
The common ultrasonographic features of pilomatricoma. ( 16179624 )
2005
283
Anetodermic variant of pilomatricoma. ( 16207196 )
2005
284
Pilomatricoma: a late onset case in the neck. ( 16213966 )
2005
285
A kindred with MYH-associated polyposis and pilomatricomas. ( 15690400 )
2005
286
Pilomatricoma-like changes in the epidermoid cysts of Gardner syndrome with an APC gene mutation. ( 15187352 )
2004
287
Pilomatrixoma of the face: a benign skin appendage mimicking squamous cell carcinoma. ( 15100649 )
2004
288
Pilomatrixoma: a diagnostic pitfall in fine-needle aspiration biopsies. A review from a small county hospital. ( 15185259 )
2004
289
Pilomatrixoma of the head and neck. ( 15779488 )
2004
290
Giant pilomatrixoma arising in the preauricular region: a case report. ( 16020991 )
2004
291
Type II collagen accumulation in overlying dermo-epidermal junction of pilomatricoma is mediated by bone morphogenetic protein 2 and 4. ( 15102076 )
2004
292
Pilomatricoma with a bullous appearance. ( 15268712 )
2004
293
Lymphangiectatic variant of pilomatricoma. ( 15324397 )
2004
294
Follicular hybrid cyst (trichilemmal cyst and pilomatricoma) arising within a nevus sebaceus. ( 15365371 )
2004
295
Pilomatrixoma: a review of 346 cases. ( 14663221 )
2003
296
beta-Catenin is expressed aberrantly in tumors expressing shadow cells. Pilomatricoma, craniopharyngioma, and calcifying odontogenic cyst. ( 14608900 )
2003
297
Fine needle aspiration cytology of pilomatrixoma of the neck region: differentiation from metastatic undifferentiated nasopharyngeal carcinoma. ( 12789949 )
2003
298
Pilomatrixoma of the eyelid simulating a chalazion. ( 12908543 )
2003
299
A benign pilomatrixoma mimicking a skull vault tumour in a 9-month-old girl. ( 14635757 )
2003
300
Uterine malignant mixed müllerian tumour with pilomatrixoma-like areas. ( 14660107 )
2003
301
Perforating pilomatricoma in a process of total elimination. ( 12894105 )
2003
302
Bullous appearance of pilomatricoma. ( 12974707 )
2003
303
Carbon dioxide laser resection of a distal carpal pilomatricoma and wound closure using swine intestinal submucosa in a dog. ( 14518658 )
2003
304
Pilomatricoma of the head and neck: a retrospective review of 179 cases. ( 14676160 )
2003
305
Pilomatricoma of the auricular region: case report. ( 15057402 )
2003
306
Giant pilomatricoma (epithelioma of Melherbe): report of a case and review of literature. ( 12730846 )
2003
307
Exophytic pilomatricoma. ( 12869169 )
2003
308
Multinodular pilomatrixoma. ( 11834858 )
2002
309
Case 3: Multiple familial pilomatrixoma. ( 12139698 )
2002
310
Pilomatrixoma of the retroauricular area and arm. ( 12149720 )
2002
311
Pilomatrixoma: clinicopathologic study of 51 cases with emphasis on cytologic features. ( 12203865 )
2002
312
Pilomatrixoma of the spermatic cord. ( 12647919 )
2002
313
Multiple pilomatricoma in trisomy 9. ( 11834859 )
2002
314
Perforating pilomatricoma: transepithelial elimination or not. ( 11890292 )
2002
315
Photo Quiz. The Diagnosis: pilomatricoma. ( 11926333 )
2002
316
Primary squamous cell carcinoma of the lung with pilomatricoma-like features. ( 11952868 )
2002
317
Fine needle aspiration cytology of pilomatricoma in three dogs. ( 12019475 )
2002
318
Malignant pilomatricoma. ( 12038205 )
2002
319
Atypical presentation of pilomatricoma: a case report. ( 12135516 )
2002
320
Multiple pilomatricoma with perforation. ( 12492980 )
2002
321
Low frequency of beta-catenin gene mutations in pilomatricoma. ( 12575848 )
2002
322
Dermoid cyst of the testis: a study of five postpubertal cases, including a pilomatrixoma-like variant, with evidence supporting its separate classification from mature testicular teratoma. ( 11395557 )
2001
323
Pilomatrix carcinoma: a report of a case arising from a previously excised pilomatrixoma and a review of the literature. ( 11174415 )
2001
324
Concurrent pilomatrix carcinoma and giant pilomatrixoma. ( 11309036 )
2001
325
High-frequency ultrasound in the diagnosis of pilomatrixoma. ( 11358563 )
2001
326
Fine-needle aspiration features of pilomatrixoma. ( 11507698 )
2001
327
Pilomatrixoma of the head and neck in children. ( 11700451 )
2001
328
Malignant pilomatrixoma with multiple local recurrences and distant metastases: a case report and review of the literature. ( 11716236 )
2001
329
Calcified pilomatrixoma of the breast: mammographic and sonographic findings. ( 11734941 )
2001
330
Head and neck pilomatrixoma in children. ( 11735819 )
2001
331
Pilomatrixoma in the parotid region. ( 11779341 )
2001
332
Head and neck pilomatricoma in the pediatric age group: a retrospective study and literature review. ( 11165649 )
2001
333
Pathology forum. Quiz case 2. Pilomatricoma (calcifying epithelioma of Malherbe). ( 11177046 )
2001
334
Clinicopathological study of pilomatricoma. ( 11307116 )
2001
335
Bullous pilomatricoma: a rare occurrence. ( 11558887 )
2001
336
beta-Catenin expression in the transitional cell zone of pilomatricoma. ( 11703290 )
2001
337
Paratesticular pilomatricoma: a new location. ( 11727062 )
2001
338
The first case of exophytic pilomatricoma in an Asian male. ( 11841636 )
2001
339
Bullous pilomatricoma: a report of clinical and pathologic findings and review of dermal bullous disorders. ( 11907849 )
2001
340
Pilomatricoma--a reprospective analysis of 18 cases. ( 12024922 )
2001
341
Pilomatrixoma and pilomatrix carcinoma deceptively similar but distinct entities. ( 10979629 )
2000
342
Guess what! Perforating pilomatricoma resembling keratoacanthoma. ( 10702010 )
2000
343
Fine needle aspiration cytology of pilomatrixoma of the breast. ( 10740619 )
2000
344
A large rapidly growing pilomatrixoma on a lower eyelid. ( 11202914 )
2000
345
Atypical adult non-calcified pilomatricoma. ( 10663591 )
2000
346
Cell death in pilomatricoma. ( 10678708 )
2000
347
Giant pilomatricoma simulating carcinoma of the male breast. ( 10750262 )
2000
348
Pilomatricoma in the head and neck: CT findings in three patients. ( 10752903 )
2000
349
Two cases of multiple giant pilomatricoma. ( 10824494 )
2000
350
Unusual case of pilomatricoma. ( 11006677 )
2000
351
Immunohistochemical expression of bone morphogenetic protein-2 in pilomatricoma. ( 11069452 )
2000
352
APC mutations in sporadic medulloblastomas. ( 10666372 )
2000
353
Expression of human hair keratin basic 1 in pilomatrixoma. A study of 128 cases. ( 10233308 )
1999
354
Pilomatrixoma of the eyelids and eyebrows in children and adolescents. ( 10355837 )
1999
355
Fine needle aspiration (FNA) cytology of pilomatrixoma: report of 14 cases and review of the literature. ( 10458503 )
1999
356
Malignant pilomatrixoma: a case report with fine needle aspiration (FNA) cytology. ( 10458504 )
1999
357
Surgical excision of pilomatrixoma of the head and neck: a retrospective review of 26 cases. ( 10485145 )
1999
358
Use of ultrasonography in the diagnosis of childhood pilomatrixoma. ( 10571829 )
1999
359
Two cases of pilomatrixoma in Turner's syndrome. ( 10640845 )
1999
360
A reappraisal on the modes of cell death in pilomatricoma. ( 10235377 )
1999
361
Pilomatricoma associated with several hair follicles. ( 10535576 )
1999
362
A common human skin tumour is caused by activating mutations in beta-catenin. ( 10192393 )
1999
363
Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene. ( 9927029 )
1999
364
Pilomatrixoma of the ovary: a rare variant of mature teratoma. ( 9543679 )
1998
365
MR imaging of a pilomatrixoma. ( 9545488 )
1998
366
Fine needle aspiration diagnosis of pilomatrixoma. A case report. ( 9622704 )
1998
367
CT of pilomatrixoma in the cheek. ( 9726456 )
1998
368
Pilomatrixoma of the head and neck in children: a study of 38 cases and a review of the literature. ( 9821927 )
1998
369
Pilomatrixoma-like visceral carcinomas. ( 9822938 )
1998
370
Malignant pilomatricoma: a case report. ( 9679696 )
1998
371
A giant peduncular pilomatricoma. ( 9746104 )
1998
372
Pilomatricoma: an alarming presentation. ( 9836054 )
1998
373
Pilomatricoma in elderly individuals. ( 9873183 )
1998
374
Sonography in preauricular pilomatrixoma of childhood. ( 9041824 )
1997
375
Cytology of pilomatrixoma (calcifying epithelioma of Malherbe) in fine needle aspirates. ( 9167700 )
1997
376
Giant calcifying epithelioma of Malherbe (pilomatrixoma): imaging features. ( 9361356 )
1997
377
Cell renewal, cell differentiation and programmed cell death (apoptosis) in pilomatrixoma. ( 9415230 )
1997
378
Calcifying epithelioma (pilomatrixoma) of the head and neck: analysis of 37 cases. ( 9486450 )
1997
379
Pilomatrixoma: Fine-needle aspiration cytology a report of three cases. ( 17377471 )
1997
380
Pilomatricoma with a bullous appearance. ( 9046744 )
1997
381
Proliferating pilomatricoma. A histopathologic simulator of matrical carcinoma. ( 9138114 )
1997
382
bcl-2 expression in pilomatricoma. ( 9185911 )
1997
383
Expression pattern of human hair keratin basic 1 (hHb1) in hair follicle and pilomatricoma. ( 9209890 )
1997
384
Pilomatricoma in children: a prospective study. ( 9436837 )
1997
385
Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. ( 9065402 )
1997
386
Beta-catenin mutations in cell lines established from human colorectal cancers. ( 9294210 )
1997
387
Pilomatricoma-like endometrioid adenosquamous carcinoma of the ovary with neuroendocrine differentiation. ( 8626150 )
1996
388
Multiple occurrence of pilomatrixoma. ( 8700990 )
1996
389
Head and neck pilomatrixoma. ( 8820190 )
1996
390
Fine needle aspiration (FNA) cytology of pilomatrixoma. ( 9074662 )
1996
391
Pilomatrixoma. ( 20948103 )
1996
392
Hyperkeratotic nodule. Keratoacanthomalike pilomatricoma. ( 8624157 )
1996
393
Perforating pilomatricoma. ( 8682949 )
1996
394
Magnetic resonance imaging of pilomatricoma. ( 8797955 )
1996
395
Morphological stages of pilomatricoma. ( 8879294 )
1996
396
Detection of apoptosis by in situ labeling in pilomatricoma. ( 8879295 )
1996
397
Pilomatrixoma of the eyelid. ( 7494166 )
1995
398
Pilomatrixoma of the cheek: report of case. ( 7562205 )
1995
399
Malignant pilomatrixoma of the scalp. ( 7567155 )
1995
400
Pilomatrixoma of the earlobe. ( 7712097 )
1995
401
Pathological case of the month. Pilomatrixoma. ( 7735411 )
1995
402
Pilomatrixoma: a description of two cases diagnosed by fine-needle aspiration. ( 7774497 )
1995
403
Metastatic pilomatrixoma associated with neurological signs in a dog. ( 8533217 )
1995
404
An unusual impediment to spectacle wear: pilomatrixoma. ( 8562557 )
1995
405
Fine-needle aspiration of pilomatrixoma. ( 8575290 )
1995
406
Anetodermic cutaneous changes overlying pilomatricoma. ( 7737777 )
1995
407
Pilomatricoma of the testicle. An ossifying testicular tumor with hair matrix differentiation. ( 7802566 )
1995
408
Pilomatrix carcinoma. A case report with immunohistochemical findings, flow cytometric comparison with benign pilomatrixoma and review of the literature. ( 7974805 )
1994
409
Fine-needle aspiration biopsy of pilomatrixoma: still a diagnostic trap for the unwary. ( 7924812 )
1994
410
Pilomatrixoma: a common, benign childhood skin tumour. ( 7982152 )
1994
411
Malignant pilomatrixoma with bone metastasis. ( 8088728 )
1994
412
Secondary anetoderma involving a pilomatricoma. ( 7802171 )
1994
413
Aggressive pilomatricoma in childhood. ( 7880061 )
1994
414
Malignant pilomatrixoma with bone metastasis. ( 7993397 )
1993
415
Calcifying epithelioma (pilomatrixoma) of Malherbe. ( 8262600 )
1993
416
Pilomatrixoma: patient report of a common childhood tumor. ( 8275612 )
1993
417
Pilomatrixoma of the external auditory meatus. ( 8320521 )
1993
418
A case of pilomatrixoma misdiagnosed as squamous cell carcinoma. ( 8343593 )
1993
419
Pilomatrixoma mimicking male breast carcinoma on mammography. ( 8456689 )
1993
420
Pigmented malignant pilomatrixoma: report of a case and review of the literature. ( 1401348 )
1992
421
Pilomatrixoma or calcifying epithelioma of Malherbe invading bone. ( 1634205 )
1992
422
Malignant pilomatricoma. An immunohistochemical study with antihair keratin antibody. ( 1370134 )
1992
423
Pilomatricoma: a retrospective study. ( 1399197 )
1992
424
Pilomatricoma: report of two cases in children. ( 1469548 )
1992
425
Pathologic quiz case 1. Pilomatricoma (calcified epithelioma of Malherbe) with secondary ossification. ( 1540358 )
1992
426
Pilomatrixoma: a rare condition in the differential diagnosis of a parotid swelling. ( 1651762 )
1991
427
Benign cutaneous adnexal tumors in childhood and young adults, excluding pilomatrixoma: review of 28 cases and literature. ( 1850764 )
1991
428
Fine needle aspiration diagnosis of pilomatrixoma. A monomorphic population of basaloid cells with squamous differentiation not to be mistaken for carcinoma. ( 1927203 )
1991
429
Pilomatrixoma in the oro-facial region. ( 1940494 )
1991
430
Pilomatrixoma as a diagnostic problem: the Edinburgh experience. ( 1941746 )
1991
431
Pathologic quiz case 2. Pilomatricoma (calcifying epithelioma of Malherbe). ( 1998575 )
1991
432
Fine needle aspiration cytologic findings in four cases of pilomatrixoma (calcifying epithelioma of Malherbe). ( 1701604 )
1990
433
Fine needle aspiration cytology of pilomatrixoma (calcifying epithelioma of Malherbe). Report of a case. ( 1701605 )
1990
434
Pilomatrixoma: calcifying epithelioma of Malherbe. ( 2115664 )
1990
435
Fine-needle aspiration cytology of pilomatrixoma: a case report. ( 2209354 )
1990
436
Pilomatrixoma of the preauricular region. ( 2279043 )
1990
437
Simultaneous occurrence of calcification and amyloid deposit in pilomatricoma. ( 1972845 )
1990
438
Acantholytic pilomatricoma. ( 2073963 )
1990
439
Immunohistochemical study on keratin expression in certain cutaneous epithelial neoplasms. Basal cell carcinoma, pilomatricoma, and seborrheic keratosis. ( 2481408 )
1989
440
Preauricular pilomatrixoma: a diagnostic pitfall. ( 2797740 )
1989
441
Perforating pilomatricoma: a case report. ( 2667900 )
1989
442
Solitary hard nodule on the forearm. Pilomatricoma. ( 2730106 )
1989
443
Pilomatricoma associated with epidermoid cyst. ( 2921381 )
1989
444
Cytokeratin analysis of pilomatrixoma: changes in cytokeratin-type expression during differentiation. ( 2457633 )
1988
445
Pilomatrixoma. An elusive diagnosis. ( 3372114 )
1988
446
Pathologic quiz case 2. Pilomatrixoma. ( 3408575 )
1988
447
Pilomatricoma (Malherbe). A clinical and histopathologic survey of 78 cases. ( 3220629 )
1988
448
Perforating pilomatricoma. ( 3221001 )
1988
449
Perforating pilomatricoma--difficulty in diagnosis. ( 3372772 )
1988
450
Pilomatrixoma mimicking breast carcinoma. ( 3580292 )
1987
451
Pilomatrixoma. ( 3588722 )
1987
452
Pilomatrixoma. Cytologic features with differential diagnostic considerations. ( 3827534 )
1987
453
Pilomatricoma with melanocytic hyperplasia: an uncommon occurrence and a diagnostic pitfall. ( 3606161 )
1987
454
Hair matrix differentiation. Occurrence in lesions other than pilomatricoma. ( 3688366 )
1987
455
Pilomatrix carcinoma: an immunohistochemical comparison with benign pilomatrixoma and other benign cutaneous lesions of pilar origin. ( 2422234 )
1986
456
Aggressive pilomatrixoma in a child: a case report. ( 3511996 )
1986
457
Pilomatrixoma presenting as a parotid mass. ( 3763730 )
1986
458
Perforating pilomatricoma. ( 3771876 )
1986
459
Multifocal Pilomatricoma. ( 28150646 )
1986
460
Pilomatrixoma. An unusual case with secondary corneal ulcer. ( 3985839 )
1985
461
Immunohistochemical and ultrastructural study on pilomatrixoma. ( 2413188 )
1985
462
Pilomatrixoma of the head and neck in children. ( 3997377 )
1985
463
Gross pathology and scanning electron microscopy of pilomatricoma. ( 3973185 )
1985
464
Malignant pilomatrixoma. Report of a case. ( 6099035 )
1984
465
Pilomatrixoma of the head and neck. ( 6490388 )
1984
466
Pilomatrixoma of the parotid in a one year old girl (calcifying epithelioma of Malherbe). ( 6544835 )
1984
467
Carcinomatous transformation in a pilomatrixoma. ( 6703259 )
1984
468
Pilomatrixoma (pilomatricoma, calcifying epithelioma of Malherbe). ( 6721547 )
1984
469
Malignant pilomatricoma. ( 6721545 )
1984
470
Pilomatrixoma. ( 6317759 )
1983
471
Calcifying epithelioma of Malherbe (pilomatrixoma) of the cheek. ( 6571881 )
1983
472
Histologic variation of a pilomatrixoma. ( 6614947 )
1983
473
Malignant pilomatrixoma in an old english sheepdog. ( 17422343 )
1983
474
Pilomatricoma-like changes in the epidermal cysts of Gardner's syndrome. ( 6863619 )
1983
475
Pilomatricoma in a pediatric hospital. ( 6882248 )
1983
476
[Pilomatrixoma (Malherbe's calcifying epithelioma). Apropos of 13 cases observed in 6 years]. ( 6304897 )
1983
477
Pilomatrixoma: a pitfall in the aspiration cytology of skin tumors. ( 6952721 )
1982
478
Pilomatrixoma of Male Breast. ( 28193973 )
1982
479
Rapid enlargement of pilomatricoma. ( 7107998 )
1982
480
Pilomatrixoma (calcifying epithelioma) in Sarawak. ( 7268457 )
1981
481
Pilomatrixoma (benign calcifying epithelioma of Malherbe). ( 7322467 )
1981
482
Pilomatricoma (calcifying epithelioma): a study of 100 cases in El Salvador. ( 7287269 )
1981
483
Pigmented Pilomatricoma. A clinical simulator of malignant melanoma. ( 7309977 )
1981
484
Malignant pilomatricoma in a dog. ( 7334160 )
1981
485
Pilomatricoma: treatment by incision and curettement. ( 7354150 )
1980
486
Pilomatrixoma: an unusual presentation. ( 317140 )
1979
487
Pilomatrixoma with peri- and intralobular blood spaces. ( 446822 )
1979
488
Malherbe's calcifying epithelioma (pilomatrixoma) of the eyelid. Clinical features. ( 550805 )
1979
489
Pilomatrixoma (calcifying epithelioma of malherbe). ( 277655 )
1978
490
Extruding pilomatricoma. Report of a case. ( 668410 )
1978
491
The tent sign of pilomatricoma. ( 729402 )
1978
492
Pilomatrixoma in the differential diagnosis of pathologic calcification of the paraoral soft tissue. ( 412804 )
1977
493
Pilomatrixoma (calcifying epithelioma of Malherbe): radiographic features. ( 847140 )
1977
494
Pilomatrixoma. ( 836698 )
1977
495
Giant pilomatrixoma (Malherbe calcifying epithelioma). ( 1244818 )
1976
496
Malignant epithelial neoplasia with hair follicle differentiation in dogs. Malignant pilomatrixoma. ( 1254740 )
1976
497
Pilomatrixoma masquerading as a parotid mass. ( 4821511 )
1974
498
Letter: Pilomatrixoma. ( 4828547 )
1974
499
Pilomatrixoma (epithelioma calcificans Malherbe). A clinical and histopathological survey of Danish material from 1954 to 1971. ( 4129700 )
1973
500
Pilomatrixoma (calcifying epithelioma). A statistical study. ( 4745286 )
1973
501
Pilomatrixoma (calcifying Epithelioma of Malherbe and Chenantais) (A case report). ( 29139415 )
1973
502
Pilomatricoma (calcifying epithelioma) of external auditory canal. ( 4704656 )
1973
503
Multifocal pilomatrixoma: part of a follicular malformation. ( 4665978 )
1972
504
Eruptive, multicentric pilomatricoma (calcifying epithelioma). Roentgenographic detection of fine tumor calcification. ( 5039110 )
1972
505
Calcifying epithelioma of Malherbe and myotonic dystrophy in sisters. ( 5173307 )
1971
506
Pilomatrixoma--calcifying epithelioma (Malherbe). ( 4107687 )
1969
507
Association of pilomatrixoma (calcifying epithelioma) and basal-cell carcinoma: a case report. ( 5652846 )
1968
508
Invasive hair matrix tumors of the scalp. Invasive pilomatrixoma. ( 4952818 )
1966
509
Myotonia atrophica and multiple calcifying epithelioma of Malherbe. ( 4162862 )
1965
510
Ultrastructure of pilomatrixoma (calcifying epithelioma). ( 5844161 )
1965
511
PILOMATRIXOMA (BENIGN CALCIFYING EPITHELIOMA) OF THE EYELIDS AND EYEBROW. ( 14048805 )
1963
512
Pilomatrixoma (calcifying epithelioma) in children. ( 13869281 )
1962
513
Pilomatrixoma (calcifying epithelioma). ( 13700704 )
1961

Variations for Pilomatrixoma

UniProtKB/Swiss-Prot genetic disease variations for Pilomatrixoma:

76 (showing 8, show less)
# Symbol AA change Variation ID SNP ID
1 CTNNB1 p.Asp32Gly VAR_017615 rs121913396
2 CTNNB1 p.Asp32Tyr VAR_017616 rs28931588
3 CTNNB1 p.Ser33Phe VAR_017617 rs121913400
4 CTNNB1 p.Ser33Tyr VAR_017619 rs121913400
5 CTNNB1 p.Gly34Glu VAR_017620 rs28931589
6 CTNNB1 p.Ser37Cys VAR_017625 rs121913403
7 CTNNB1 p.Ser37Phe VAR_017626 rs121913403
8 CTNNB1 p.Thr41Ile VAR_017630 rs121913413

ClinVar genetic disease variations for Pilomatrixoma:

6 (showing 53, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh37 Chromosome 1, 45798475: 45798475
2 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh38 Chromosome 1, 45332803: 45332803
3 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh37 Chromosome 1, 45797228: 45797228
4 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh38 Chromosome 1, 45331556: 45331556
5 MUTYH MUTYH, 2-BP INS, 1186GG insertion Pathogenic
6 CTNNB1 NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
7 CTNNB1 NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh38 Chromosome 3, 41224610: 41224610
8 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh37 Chromosome 3, 41266098: 41266098
9 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh38 Chromosome 3, 41224607: 41224607
10 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
11 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh38 Chromosome 3, 41224622: 41224622
12 CTNNB1 NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28931588 GRCh37 Chromosome 3, 41266097: 41266097
13 CTNNB1 NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28931588 GRCh38 Chromosome 3, 41224606: 41224606
14 CTNNB1 NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
15 CTNNB1 NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh38 Chromosome 3, 41224610: 41224610
16 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh37 Chromosome 3, 41266104: 41266104
17 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh38 Chromosome 3, 41224613: 41224613
18 CTNNB1 NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
19 CTNNB1 NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh38 Chromosome 3, 41224622: 41224622
20 CTNNB1 NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913413 GRCh37 Chromosome 3, 41266125: 41266125
21 CTNNB1 NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913413 GRCh38 Chromosome 3, 41224634: 41224634
22 MUTYH NM_001128425.1(MUTYH): c.1420C> T (p.Arg474Cys) single nucleotide variant Uncertain significance rs200229669 GRCh37 Chromosome 1, 45796910: 45796910
23 MUTYH NM_001128425.1(MUTYH): c.1420C> T (p.Arg474Cys) single nucleotide variant Uncertain significance rs200229669 GRCh38 Chromosome 1, 45331238: 45331238
24 MUTYH NM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del) deletion Pathogenic rs587778541 GRCh37 Chromosome 1, 45796891: 45796893
25 MUTYH NM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del) deletion Pathogenic rs587778541 GRCh38 Chromosome 1, 45331219: 45331221
26 MUTYH NM_001128425.1(MUTYH): c.1493A> G (p.Gln498Arg) single nucleotide variant Uncertain significance rs587780085 GRCh37 Chromosome 1, 45796213: 45796213
27 MUTYH NM_001128425.1(MUTYH): c.1493A> G (p.Gln498Arg) single nucleotide variant Uncertain significance rs587780085 GRCh38 Chromosome 1, 45330541: 45330541
28 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 GRCh37 Chromosome 1, 45800165: 45800165
29 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 GRCh38 Chromosome 1, 45334493: 45334493
30 MUTYH NM_001128425.1(MUTYH): c.572G> A (p.Arg191Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs369677603 GRCh37 Chromosome 1, 45798439: 45798439
31 MUTYH NM_001128425.1(MUTYH): c.572G> A (p.Arg191Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs369677603 GRCh38 Chromosome 1, 45332767: 45332767
32 MUTYH NM_001128425.1(MUTYH): c.985G> A (p.Val329Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147718169 GRCh37 Chromosome 1, 45797707: 45797707
33 MUTYH NM_001128425.1(MUTYH): c.985G> A (p.Val329Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147718169 GRCh38 Chromosome 1, 45332035: 45332035
34 MUTYH NM_001128425.1(MUTYH): c.1255G> A (p.Ala419Thr) single nucleotide variant Uncertain significance rs587780744 GRCh37 Chromosome 1, 45797160: 45797160
35 MUTYH NM_001128425.1(MUTYH): c.1255G> A (p.Ala419Thr) single nucleotide variant Uncertain significance rs587780744 GRCh38 Chromosome 1, 45331488: 45331488
36 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh37 Chromosome 1, 45798117: 45798117
37 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh38 Chromosome 1, 45332445: 45332445
38 MUTYH NM_001128425.1(MUTYH): c.1187-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781628 GRCh37 Chromosome 1, 45797230: 45797230
39 MUTYH NM_001128425.1(MUTYH): c.1187-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781628 GRCh38 Chromosome 1, 45331558: 45331558
40 MUTYH NM_001128425.1(MUTYH): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs587782683 GRCh37 Chromosome 1, 45799086: 45799086
41 MUTYH NM_001128425.1(MUTYH): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs587782683 GRCh38 Chromosome 1, 45333414: 45333414
42 MUTYH NM_001128425.1(MUTYH): c.932G> A (p.Arg311Lys) single nucleotide variant Uncertain significance rs149342980 GRCh38 Chromosome 1, 45332167: 45332167
43 MUTYH NM_001128425.1(MUTYH): c.932G> A (p.Arg311Lys) single nucleotide variant Uncertain significance rs149342980 GRCh37 Chromosome 1, 45797839: 45797839
44 MUTYH NM_001128425.1(MUTYH): c.1000C> G (p.Pro334Ala) single nucleotide variant Uncertain significance rs587778537 GRCh38 Chromosome 1, 45331847: 45331847
45 MUTYH NM_001128425.1(MUTYH): c.1000C> G (p.Pro334Ala) single nucleotide variant Uncertain significance rs587778537 GRCh37 Chromosome 1, 45797519: 45797519
46 CTNNB1 NM_001904.3(CTNNB1): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs775104326 GRCh37 Chromosome 3, 41266486: 41266486
47 CTNNB1 NM_001904.3(CTNNB1): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs775104326 GRCh38 Chromosome 3, 41224995: 41224995
48 CTNNB1 NM_001904.3(CTNNB1): c.100G> A (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh37 Chromosome 3, 41266103: 41266103
49 CTNNB1 NM_001904.3(CTNNB1): c.100G> A (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh38 Chromosome 3, 41224612: 41224612
50 CTNNB1 NM_001904.3(CTNNB1): c.100G> C (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh37 Chromosome 3, 41266103: 41266103
51 CTNNB1 NM_001904.3(CTNNB1): c.100G> C (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh38 Chromosome 3, 41224612: 41224612
52 MUTYH NM_001128425.1(MUTYH): c.389-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs372267274 GRCh38 Chromosome 1, 45333171: 45333171
53 MUTYH NM_001128425.1(MUTYH): c.389-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs372267274 GRCh37 Chromosome 1, 45798843: 45798843

Cosmic variations for Pilomatrixoma:

9 (showing 790, 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 COSM6927263 TSC1 skin,scalp,carcinoma,NS c.2204C>T p.A735V 9:132903655-132903655 0
2 COSM44097 TP53 skin,face,carcinoma,NS c.530C>T p.P177L 17:7675082-7675082 0
3 COSM45074 TP53 skin,arm,carcinoma,NS c.829T>G p.C277G 17:7673791-7673791 0
4 COSM10705 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 0
5 COSM44225 TP53 skin,arm,carcinoma,NS c.859G>A p.E287K 17:7673761-7673761 0
6 COSM44295 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 0
7 COSM10939 TP53 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 0
8 COSM43544 TP53 skin,face,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 0
9 COSM10656 TP53 skin,arm,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 0
10 COSM44326 TP53 skin,face,carcinoma,NS c.706T>C p.Y236H 17:7674257-7674257 0
11 COSM10662 TP53 skin,face,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
12 COSM45774 TP53 skin,arm,carcinoma,NS c.899C>G p.P300R 17:7673721-7673721 0
13 COSM11449 TP53 skin,face,carcinoma,NS c.388C>T p.L130F 17:7675224-7675224 0
14 COSM43753 TP53 skin,lower leg,carcinoma,NS c.560-1G>A p.? 17:7674972-7674972 0
15 COSM44068 TP53 skin,face,carcinoma,NS c.532C>A p.H178N 17:7675080-7675080 0
16 COSM44135 TP53 skin,scalp,carcinoma,NS c.724T>G p.C242G 17:7674239-7674239 0
17 COSM44218 TP53 skin,lower leg,carcinoma,NS c.536A>C p.H179P 17:7675076-7675076 0
18 COSM10654 TP53 skin,face,carcinoma,NS c.637C>T p.R213* 17:7674894-7674894 0
19 COSM10863 TP53 skin,lower leg,carcinoma,NS c.833C>T p.P278L 17:7673787-7673787 0
20 COSM10889 TP53 skin,lower leg,carcinoma,NS c.536A>G p.H179R 17:7675076-7675076 0
21 COSM44832 TP53 skin,arm,carcinoma,NS c.1096T>G p.S366A 17:7670613-7670613 0
22 COSM45830 TP53 skin,face,carcinoma,NS c.766A>C p.T256P 17:7674197-7674197 0
23 COSM10812 TP53 skin,face,carcinoma,NS c.722C>T p.S241F 17:7674241-7674241 0
24 COSM44495 TP53 skin,scalp,carcinoma,NS c.559+2T>A p.? 17:7675051-7675051 0
25 COSM10726 TP53 skin,face,carcinoma,NS c.856G>A p.E286K 17:7673764-7673764 0
26 COSM44140 TP53 skin,scalp,carcinoma,NS c.596G>T p.G199V 17:7674935-7674935 0
27 COSM10995 TP53 skin,lower leg,carcinoma,NS c.580C>T p.L194F 17:7674951-7674951 0
28 COSM10992 TP53 skin,face,carcinoma,NS c.844C>G p.R282G 17:7673776-7673776 0
29 COSM45304 TP53 skin,face,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 0
30 COSM44398 TP53 skin,lower leg,carcinoma,NS c.682G>A p.D228N 17:7674281-7674281 0
31 COSM44523 TP53 skin,lower leg,carcinoma,NS c.863A>G p.N288S 17:7673757-7673757 0
32 COSM10659 TP53 skin,scalp,carcinoma,NS c.817C>T p.R273C 17:7673803-7673803 0
33 COSM43588 TP53 skin,face,carcinoma,NS c.740A>C p.N247T 17:7674223-7674223 0
34 COSM11081 TP53 skin,face,carcinoma,NS c.733G>T p.G245C 17:7674230-7674230 0
35 COSM11073 TP53 skin,face,carcinoma,NS c.1024C>T p.R342* 17:7670685-7670685 0
36 COSM43582 TP53 skin,face,carcinoma,NS c.454C>T p.P152S 17:7675158-7675158 0
37 COSM44544 TP53 skin,scalp,carcinoma,NS c.766A>G p.T256A 17:7674197-7674197 0
38 COSM45733 TP53 skin,face,carcinoma,NS c.432G>A p.Q144Q 17:7675180-7675180 0
39 COSM10704 TP53 skin,face,carcinoma,NS c.844C>T p.R282W 17:7673776-7673776 0
40 COSM43700 TP53 skin,face,carcinoma,NS c.712T>A p.C238S 17:7674251-7674251 0
41 COSM10733 TP53 skin,face,carcinoma,NS c.574C>T p.Q192* 17:7674957-7674957 0
42 COSM44227 TP53 skin,face,carcinoma,NS c.854A>T p.E285V 17:7673766-7673766 0
43 COSM10768 TP53 skin,face,carcinoma,NS c.535C>T p.H179Y 17:7675077-7675077 0
44 COSM11066 TP53 skin,scalp,carcinoma,NS c.578A>T p.H193L 17:7674953-7674953 0
45 COSM43651 TP53 skin,face,carcinoma,NS c.763A>T p.I255F 17:7674200-7674200 0
46 COSM6903923 TP53 skin,scalp,carcinoma,NS c.356C>T p.A119V 17:7676013-7676013 0
47 COSM44435 TP53 skin,face,carcinoma,NS c.96+1G>A p.? 17:7676381-7676381 0
48 COSM10731 TP53 skin,lower leg,carcinoma,NS c.707A>G p.Y236C 17:7674256-7674256 0
49 COSM43952 TP53 skin,scalp,carcinoma,NS c.710T>A p.M237K 17:7674253-7674253 0
50 COSM44023 TP53 skin,scalp,carcinoma,NS c.560G>A p.G187D 17:7674971-7674971 0
51 COSM44151 TP53 skin,scalp,carcinoma,NS c.535C>A p.H179N 17:7675077-7675077 0
52 COSM43920 TP53 skin,face,carcinoma,NS c.680C>T p.S227F 17:7674283-7674283 0
53 COSM44436 TP53 skin,face,carcinoma,NS c.375+2T>C p.? 17:7675992-7675992 0
54 COSM10660 TP53 skin,upper extremity,carcinoma,NS c.818G>A p.R273H 17:7673802-7673802 0
55 COSM10648 TP53 skin,lower leg,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 0
56 COSM11183 TP53 skin,scalp,carcinoma,NS c.799C>T p.R267W 17:7673821-7673821 0
57 COSM43596 TP53 skin,face,carcinoma,NS c.841G>A p.D281N 17:7673779-7673779 0
58 COSM10749 TP53 skin,face,carcinoma,NS c.830G>T p.C277F 17:7673790-7673790 0
59 COSM44393 TP53 skin,scalp,carcinoma,NS c.821T>C p.V274A 17:7673799-7673799 0
60 COSM11084 TP53 skin,face,carcinoma,NS c.517G>A p.V173M 17:7675095-7675095 0
61 COSM11451 TP53 skin,scalp,carcinoma,NS c.672G>T p.E224D 17:7674859-7674859 0
62 COSM43742 TP53 skin,face,carcinoma,NS c.419C>T p.T140I 17:7675193-7675193 0
63 COSM45765 TP53 skin,lower leg,carcinoma,NS c.987C>A p.T329T 17:7673541-7673541 0
64 COSM10725 TP53 skin,scalp,carcinoma,NS c.701A>G p.Y234C 17:7674262-7674262 0
65 COSM10887 TP53 skin,face,carcinoma,NS c.833C>G p.P278R 17:7673787-7673787 0
66 COSM44241 TP53 skin,face,carcinoma,NS c.592G>T p.E198* 17:7674939-7674939 0
67 COSM43665 TP53 skin,face,carcinoma,NS c.746G>C p.R249T 17:7674217-7674217 0
68 COSM10728 TP53 skin,face,carcinoma,NS c.839G>A p.R280K 17:7673781-7673781 0
69 COSM10988 TP53 skin,face,carcinoma,NS c.772G>A p.E258K 17:7674191-7674191 0
70 COSM45114 TP53 skin,lower leg,carcinoma,NS c.702C>A p.Y234* 17:7674261-7674261 0
71 COSM45677 TP53 skin,face,carcinoma,NS c.714T>A p.C238* 17:7674249-7674249 0
72 COSM44552 TP53 skin,face,carcinoma,NS c.509C>T p.T170M 17:7675103-7675103 0
73 COSM43995 TP53 skin,lower leg,carcinoma,NS c.740A>T p.N247I 17:7674223-7674223 0
74 COSM607136 TGFBR1 skin,neck,carcinoma,NS c.1247C>T p.S416F 9:99146601-99146601 0
75 COSM13233 SUFU skin,face,carcinoma,NS c.591C>T p.F197F 10:102592718-102592718 0
76 COSM13234 SUFU skin,face,carcinoma,NS c.560C>T p.P187L 10:102592687-102592687 0
77 COSM5386387 STAT5B skin,scalp,carcinoma,NS c.2125C>T p.P709S 17:42202761-42202761 0
78 COSM3942016 SMO skin,face,carcinoma,NS c.1376C>T p.A459V 7:129209307-129209307 0
79 COSM13145 SMO skin,face,carcinoma,NS c.595C>T p.R199W 7:129205260-129205260 0
80 COSM216037 SMO skin,face,carcinoma,NS c.1234C>T p.L412F 7:129206557-129206557 0
81 COSM13146 SMO skin,face,carcinoma,NS c.1604G>T p.W535L 7:129210500-129210500 0
82 COSM6962965 SMO skin,neck,carcinoma,NS c.1103C>T p.P368L 7:129206332-129206332 0
83 COSM13144 SMO skin,face,carcinoma,NS c.1598G>A p.S533N 7:129210494-129210494 0
84 COSM13240 SMO skin,face,carcinoma,NS c.1955C>T p.A652V 7:129212042-129212042 0
85 COSM6927876 SMARCA4 skin,scalp,carcinoma,NS c.2366C>T p.T789I 19:11013040-11013040 0
86 COSM6927872 SMAD2 skin,scalp,carcinoma,NS c.1247T>G p.M416R 18:47845373-47845373 0
87 COSM6931106 ROS1 skin,lower leg,carcinoma,NS c.418G>A p.G140R 6:117404300-117404300 0
88 COSM214151 RB1 skin,scalp,carcinoma,NS c.585G>A p.W195* 13:48349001-48349001 0
89 COSM1731707 RB1 skin,face,carcinoma,NS c.1789C>T p.Q597* 13:48453086-48453086 0
90 COSM1735721 RB1 skin,lower leg,carcinoma,NS c.297G>A p.W99* 13:48342631-48342631 0
91 COSM1735722 RB1 skin,lower leg,carcinoma,NS c.298G>A p.G100R 13:48342632-48342632 0
92 COSM6962990 RARA skin,neck,carcinoma,NS c.1384C>T p.P462S 17:40356221-40356221 0
93 COSM6962984 RAD52 skin,neck,carcinoma,NS c.439G>A p.V147M 12:927173-927173 0
94 COSM6962994 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 0
95 COSM6927276 PTPRT skin,scalp,carcinoma,NS c.2449C>T p.Q817* 20:42199348-42199348 0
96 COSM6962992 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 0
97 COSM6962970 PTPRD skin,neck,carcinoma,NS c.1736G>A p.S579N 9:8504347-8504347 0
98 COSM6970765 PTPRD skin,scalp,carcinoma,NS c.2471C>T p.P824L 9:8486346-8486346 0
99 COSM456125 PTPRD skin,neck,carcinoma,NS c.5048C>T p.S1683F 9:8341168-8341168 0
100 COSM1700914 PTPRD skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 0
101 COSM17598 PTCH1 skin,face,carcinoma,NS c.550C>T p.Q184* 9:95485719-95485719 0
102 COSM17495 PTCH1 skin,face,carcinoma,NS c.1229G>A p.S410N 9:95478173-95478173 0
103 COSM17511 PTCH1 skin,face,carcinoma,NS c.3583A>T p.T1195S 9:95449290-95449290 0
104 COSM17522 PTCH1 skin,face,carcinoma,NS c.3586C>T p.P1196S 9:95449287-95449287 0
105 COSM17490 PTCH1 skin,scalp,carcinoma,NS c.3584C>T p.T1195I 9:95449289-95449289 0
106 COSM14439 PTCH1 skin,face,carcinoma,NS c.992C>T p.S331F 9:95480044-95480044 0
107 COSM17489 PTCH1 skin,face,carcinoma,NS c.3724G>A p.E1242K 9:95449149-95449149 0
108 COSM17584 PTCH1 skin,face,carcinoma,NS c.2105C>T p.P702L 9:95468896-95468896 0
109 COSM14446 PTCH1 skin,face,carcinoma,NS c.3054G>A p.W1018* 9:95458127-95458127 0
110 COSM17532 PTCH1 skin,face,carcinoma,NS c.768G>A p.W256* 9:95480567-95480567 0
111 COSM26377 PTCH1 skin,face,carcinoma,NS c.3449+1G>A p.? 9:95453477-95453477 0
112 COSM29057 PTCH1 skin,lower leg,carcinoma,NS c.2713C>T p.Q905* 9:95459774-95459774 0
113 COSM17473 PTCH1 skin,face,carcinoma,NS c.2308C>T p.R770* 9:95467368-95467368 0
114 COSM17599 PTCH1 skin,face,carcinoma,NS c.2120C>T p.S707F 9:95468881-95468881 0
115 COSM17533 PTCH1 skin,face,carcinoma,NS c.2251-1G>A p.? 9:95467426-95467426 0
116 COSM29033 PTCH1 skin,face,carcinoma,NS c.2038G>T p.E680* 9:95468963-95468963 0
117 COSM17468 PTCH1 skin,neck,carcinoma,NS c.584G>T p.R195M 9:95485685-95485685 0
118 COSM29043 PTCH1 skin,face,carcinoma,NS c.1634G>A p.G545E 9:95476128-95476128 0
119 COSM29071 PTCH1 skin,face,carcinoma,NS c.3549+5G>A p.? 9:95449836-95449836 0
120 COSM29046 PTCH1 skin,face,carcinoma,NS c.747-1G>A p.? 9:95480589-95480589 0
121 COSM26363 PTCH1 skin,face,carcinoma,NS c.2446C>T p.Q816* 9:95467230-95467230 0
122 COSM29053 PTCH1 skin,neck,carcinoma,NS c.833G>A p.W278* 9:95480502-95480502 0
123 COSM17582 PTCH1 skin,face,carcinoma,NS c.1082A>C p.Q361P 9:95479133-95479133 0
124 COSM14440 PTCH1 skin,lower leg,carcinoma,NS c.1093C>T p.Q365* 9:95479122-95479122 0
125 COSM29040 PTCH1 skin,face,carcinoma,NS c.2693A>G p.D898G 9:95461866-95461866 0
126 COSM17493 PTCH1 skin,face,carcinoma,NS c.1316T>C p.V439A 9:95478086-95478086 0
127 COSM29055 PTCH1 skin,face,carcinoma,NS c.2050G>T p.E684* 9:95468951-95468951 0
128 COSM29048 PTCH1 skin,face,carcinoma,NS c.1347+1G>A p.? 9:95478054-95478054 0
129 COSM17456 PTCH1 skin,arm,carcinoma,NS c.1160G>A p.W387* 9:95479055-95479055 0
130 COSM17547 PTCH1 skin,face,carcinoma,NS c.1511C>A p.P504Q 9:95476850-95476850 0
131 COSM29072 PTCH1 skin,neck,carcinoma,NS c.1067+1G>A p.? 9:95479968-95479968 0
132 COSM144232 PTCH1 skin,face,carcinoma,NS c.3209T>G p.M1070R 9:95456373-95456373 0
133 COSM14452 PTCH1 skin,neck,carcinoma,NS c.2321G>A p.G774E 9:95467355-95467355 0
134 COSM17480 PTCH1 skin,arm,carcinoma,NS c.1847G>A p.S616N 9:95469813-95469813 0
135 COSM17460 PTCH1 skin,face,carcinoma,NS c.3917C>T p.P1306L 9:95447339-95447339 0
136 COSM29052 PTCH1 skin,back,carcinoma,NS c.724C>T p.Q242* 9:95481971-95481971 0
137 COSM144244 PTCH1 skin,face,carcinoma,NS c.994A>T p.R332* 9:95480042-95480042 0
138 COSM17467 PTCH1 skin,face,carcinoma,NS c.1726C>T p.Q576* 9:95476036-95476036 0
139 COSM17498 PTCH1 skin,face,carcinoma,NS c.2033C>T p.T678I 9:95468968-95468968 0
140 COSM17520 PTCH1 skin,face,carcinoma,NS c.584G>A p.R195K 9:95485685-95485685 0
141 COSM17519 PTCH1 skin,face,carcinoma,NS c.463C>T p.P155S 9:95485806-95485806 0
142 COSM29147 PTCH1 skin,face,carcinoma,NS c.1356T>G p.Y452* 9:95477694-95477694 0
143 COSM17472 PTCH1 skin,face,carcinoma,NS c.1249C>T p.Q417* 9:95478153-95478153 0
144 COSM17494 PTCH1 skin,face,carcinoma,NS c.754C>T p.P252S 9:95480581-95480581 0
145 COSM17462 PTCH1 skin,face,carcinoma,NS c.1068-2A>T p.? 9:95479149-95479149 0
146 COSM29061 PTCH1 skin,face,carcinoma,NS c.493G>T p.E165* 9:95485776-95485776 0
147 COSM144239 PTCH1 skin,face,carcinoma,NS c.1854C>A p.C618* 9:95469147-95469147 0
148 COSM17585 PTCH1 skin,face,carcinoma,NS c.2008C>T p.P670S 9:95468993-95468993 0
149 COSM17497 PTCH1 skin,face,carcinoma,NS c.1433C>T p.A478V 9:95477617-95477617 0
150 COSM17492 PTCH1 skin,face,carcinoma,NS c.1085C>T p.T362I 9:95479130-95479130 0
151 COSM17530 PTCH1 skin,face,carcinoma,NS c.2965G>T p.E989* 9:95458216-95458216 0
152 COSM14464 PTCH1 skin,face,carcinoma,NS c.1804C>T p.R602* 9:95469856-95469856 0
153 COSM17496 PTCH1 skin,face,carcinoma,NS c.2072C>T p.T691I 9:95468929-95468929 0
154 COSM17600 PTCH1 skin,face,carcinoma,NS c.2207C>T p.A736V 9:95468794-95468794 0
155 COSM17483 PTCH1 skin,neck,carcinoma,NS c.1729-1G>T p.? 9:95469932-95469932 0
156 COSM17601 PTCH1 skin,face,carcinoma,NS c.2011C>T p.H671Y 9:95468990-95468990 0
157 COSM14460 PTCH1 skin,scalp,carcinoma,NS c.2364T>A p.Y788* 9:95467312-95467312 0
158 COSM17548 PTCH1 skin,arm,carcinoma,NS c.3499G>T p.G1167W 9:95449891-95449891 0
159 COSM17521 PTCH1 skin,lower leg,carcinoma,NS c.1993C>G p.R665G 9:95469008-95469008 0
160 COSM6927256 PRDM1 skin,scalp,carcinoma,NS c.881C>T p.P294L 6:106105149-106105149 0
161 COSM6927274 POLD1 skin,scalp,carcinoma,NS c.1264G>A p.G422S 19:50406203-50406203 0
162 COSM6962989 PLCG2 skin,neck,carcinoma,NS c.115G>T p.E39* 16:81786104-81786104 0
163 COSM6927863 PIK3CG skin,scalp,carcinoma,NS c.316T>A p.W106R 7:106867877-106867877 0
164 COSM6962963 PIK3CG skin,neck,carcinoma,NS c.310G>A p.G104R 7:106867871-106867871 0
165 COSM6927257 PIK3CG skin,scalp,carcinoma,NS c.1555C>T p.L519F 7:106869116-106869116 0
166 COSM6962964 PIK3CG skin,neck,carcinoma,NS c.3227G>A p.R1076K 7:106905305-106905305 0
167 COSM163485 PIK3CA skin,scalp,carcinoma,NS c.311C>T p.P104L 3:179199136-179199136 0
168 COSM87306 PIK3CA skin,scalp,carcinoma,NS c.2176G>A p.E726K 3:179221146-179221146 0
169 COSM763 PIK3CA skin,back,carcinoma,NS c.1633G>A p.E545K 3:179218303-179218303 0
170 COSM6927253 PDGFRB skin,scalp,carcinoma,NS c.232G>A p.D78N 5:150135687-150135687 0
171 COSM6927249 PBRM1 skin,scalp,carcinoma,NS c.3889C>T p.P1297S 3:52563480-52563480 0
172 COSM585 NRAS skin,face,carcinoma,NS c.183A>T p.Q61H 1:114713907-114713907 0
173 COSM564 NRAS skin,neck,carcinoma,NS c.35G>A p.G12D 1:114716126-114716126 0
174 COSM6903909 NRAS skin,face,carcinoma,NS c.443C>T p.T148I 1:114709576-114709576 0
175 COSM6903911 NRAS skin,scalp,carcinoma,NS c.332T>A p.M111K 1:114709687-114709687 0
176 COSM573 NRAS skin,scalp,carcinoma,NS c.38G>A p.G13D 1:114716123-114716123 0
177 COSM574 NRAS skin,face,carcinoma,NS c.38G>T p.G13V 1:114716123-114716123 0
178 COSM1667036 NOTCH2 skin,face,carcinoma,NS c.337C>T p.R113* 1:120005407-120005407 0
179 COSM6903908 NOTCH2 skin,scalp,carcinoma,NS c.7291C>T p.H2431Y 1:119915431-119915431 0
180 COSM6903985 NOTCH2 skin,face,carcinoma,NS c.5524T>C p.S1842P 1:119919569-119919569 0
181 COSM6903873 NOTCH2 skin,face,carcinoma,NS c.5141G>A p.G1714D 1:119922308-119922308 0
182 COSM6903860 NOTCH2 skin,face,carcinoma,NS c.4418G>T p.W1473L 1:119925398-119925398 0
183 COSM6903872 NOTCH2 skin,face,carcinoma,NS c.5140G>A p.G1714S 1:119922309-119922309 0
184 COSM6904027 NOTCH2 skin,arm,carcinoma,NS c.5923G>A p.D1975N 1:119918412-119918412 0
185 COSM6903859 NOTCH2 skin,scalp,carcinoma,NS c.4358G>A p.G1453D 1:119925458-119925458 0
186 COSM6903876 NOTCH2 skin,lower leg,carcinoma,NS c.5449G>A p.D1817N 1:119920259-119920259 0
187 COSM6903874 NOTCH2 skin,scalp,carcinoma,NS c.5164A>G p.S1722G 1:119922285-119922285 0
188 COSM6903856 NOTCH2 skin,scalp,carcinoma,NS c.4006G>A p.G1336R 1:119925810-119925810 0
189 COSM6903890 NOTCH2 skin,scalp,carcinoma,NS c.5930G>A p.G1977E 1:119917762-119917762 0
190 COSM6903983 NOTCH2 skin,lower leg,carcinoma,NS c.3052A>G p.T1018A 1:119940686-119940686 0
191 COSM6903862 NOTCH2 skin,scalp,carcinoma,NS c.4509C>A p.C1503* 1:119925307-119925307 0
192 COSM6903843 NOTCH2 skin,scalp,carcinoma,NS c.2891G>A p.C964Y 1:119941616-119941616 0
193 COSM6903875 NOTCH2 skin,face,carcinoma,NS c.5266G>A p.E1756K 1:119921757-119921757 0
194 COSM6903883 NOTCH2 skin,scalp,carcinoma,NS c.5653G>A p.A1885T 1:119919440-119919440 0
195 COSM6903891 NOTCH2 skin,face,carcinoma,NS c.5942T>C p.L1981P 1:119917750-119917750 0
196 COSM6903836 NOTCH2 skin,face,carcinoma,NS c.2314T>C p.C772R 1:119953594-119953594 0
197 COSM6904021 NOTCH2 skin,arm,carcinoma,NS c.1294A>G p.K432E 1:119967592-119967592 0
198 COSM6903868 NOTCH2 skin,scalp,carcinoma,NS c.4860-1G>A p.? 1:119922779-119922779 0
199 COSM6903878 NOTCH2 skin,scalp,carcinoma,NS c.5480A>T p.D1827V 1:119919613-119919613 0
200 COSM6903835 NOTCH2 skin,face,carcinoma,NS c.2234G>A p.C745Y 1:119953674-119953674 0
201 COSM6903881 NOTCH2 skin,scalp,carcinoma,NS c.5630G>A p.G1877D 1:119919463-119919463 0
202 COSM6903864 NOTCH2 skin,lower leg,carcinoma,NS c.4570A>G p.S1524G 1:119923926-119923926 0
203 COSM6903838 NOTCH2 skin,face,carcinoma,NS c.2414T>C p.L805P 1:119950789-119950789 0
204 COSM6903831 NOTCH2 skin,scalp,carcinoma,NS c.1738C>T p.H580Y 1:119963751-119963751 0
205 COSM6903826 NOTCH2 skin,scalp,carcinoma,NS c.1319T>G p.F440C 1:119967567-119967567 0
206 COSM6903841 NOTCH2 skin,face,carcinoma,NS c.2602C>G p.Q868E 1:119948564-119948564 0
207 COSM6903863 NOTCH2 skin,scalp,carcinoma,NS c.4510A>G p.K1504E 1:119925306-119925306 0
208 COSM6903849 NOTCH2 skin,scalp,carcinoma,NS c.3310T>C p.S1104P 1:119937884-119937884 0
209 COSM6903870 NOTCH2 skin,face,carcinoma,NS c.5006A>G p.E1669G 1:119922443-119922443 0
210 COSM6903889 NOTCH2 skin,scalp,carcinoma,NS c.5930-1G>C p.? 1:119917763-119917763 0
211 COSM6903823 NOTCH2 skin,face,carcinoma,NS c.1060A>G p.I354V 1:119969559-119969559 0
212 COSM6903893 NOTCH2 skin,lower leg,carcinoma,NS c.6449C>T p.P2150L 1:119916273-119916273 0
213 COSM6903877 NOTCH2 skin,face,carcinoma,NS c.5468T>C p.V1823A 1:119920240-119920240 0
214 COSM6903892 NOTCH2 skin,scalp,carcinoma,NS c.6115A>G p.T2039A 1:119916607-119916607 0
215 COSM6903901 NOTCH2 skin,lower leg,carcinoma,NS c.6951A>C p.Q2317H 1:119915771-119915771 0
216 COSM6903850 NOTCH2 skin,lower leg,carcinoma,NS c.3358T>G p.C1120G 1:119937446-119937446 0
217 COSM6903871 NOTCH2 skin,scalp,carcinoma,NS c.5026A>G p.T1676A 1:119922423-119922423 0
218 COSM6903986 NOTCH2 skin,face,carcinoma,NS c.5524T>A p.S1842T 1:119919569-119919569 0
219 COSM6903888 NOTCH2 skin,scalp,carcinoma,NS c.5857C>T p.R1953C 1:119918478-119918478 0
220 COSM6903905 NOTCH2 skin,face,carcinoma,NS c.7097C>T p.A2366V 1:119915625-119915625 0
221 COSM6904020 NOTCH2 skin,arm,carcinoma,NS c.1778G>A p.C593Y 1:119963711-119963711 0
222 COSM6903842 NOTCH2 skin,lower leg,carcinoma,NS c.2867A>G p.E956G 1:119941640-119941640 0
223 COSM6903879 NOTCH2 skin,scalp,carcinoma,NS c.5523C>G p.S1841R 1:119919570-119919570 0
224 COSM6903839 NOTCH2 skin,lower leg,carcinoma,NS c.2521C>T p.P841S 1:119949085-119949085 0
225 COSM6903830 NOTCH2 skin,lower leg,carcinoma,NS c.1652C>T p.P551L 1:119965482-119965482 0
226 COSM6903884 NOTCH2 skin,scalp,carcinoma,NS c.5713G>A p.A1905T 1:119919380-119919380 0
227 COSM6903984 NOTCH2 skin,lower leg,carcinoma,NS c.3052A>C p.T1018P 1:119940686-119940686 0
228 COSM6903887 NOTCH2 skin,face,carcinoma,NS c.5836A>G p.T1946A 1:119918499-119918499 0
229 COSM6903904 NOTCH2 skin,face,carcinoma,NS c.7085A>G p.D2362G 1:119915637-119915637 0
230 COSM133959 NOTCH2 skin,scalp,carcinoma,NS c.5512C>T p.R1838* 1:119919581-119919581 0
231 COSM6903818 NOTCH2 skin,lower leg,carcinoma,NS c.823T>C p.C275R 1:119987011-119987011 0
232 COSM6903844 NOTCH2 skin,face,carcinoma,NS c.2987G>A p.C996Y 1:119940751-119940751 0
233 COSM6903633 NOTCH1 skin,face,carcinoma,NS c.3394C>T p.R1132C 9:136508071-136508071 0
234 COSM6903737 NOTCH1 skin,lower leg,carcinoma,NS c.5051A>G p.Q1684R 9:136503298-136503298 0
235 COSM6903601 NOTCH1 skin,face,carcinoma,NS c.2609T>C p.I870T 9:136510784-136510784 0
236 COSM6903681 NOTCH1 skin,face,carcinoma,NS c.4211A>G p.E1404G 9:136505685-136505685 0
237 COSM6903607 NOTCH1 skin,lower leg,carcinoma,NS c.2747G>A p.C916Y 9:136509955-136509955 0
238 COSM6903747 NOTCH1 skin,lower leg,carcinoma,NS c.5425A>G p.N1809D 9:136502048-136502048 0
239 COSM6903579 NOTCH1 skin,face,carcinoma,NS c.1714C>A p.P572T 9:136515672-136515672 0
240 COSM6903671 NOTCH1 skin,back,carcinoma,NS c.4162A>G p.S1388G 9:136505734-136505734 0
241 COSM6903711 NOTCH1 skin,back,carcinoma,NS c.4447T>C p.F1483L 9:136505449-136505449 0
242 COSM99651 NOTCH1 skin,arm,carcinoma,NS c.1093C>T p.R365C 9:136518597-136518597 0
243 COSM6903533 NOTCH1 skin,scalp,carcinoma,NS c.866-1G>T p.? 9:136518825-136518825 0
244 COSM6903635 NOTCH1 skin,scalp,carcinoma,NS c.3437T>C p.V1146A 9:136508028-136508028 0
245 COSM6903739 NOTCH1 skin,face,carcinoma,NS c.5065T>C p.S1689P 9:136503284-136503284 0
246 COSM6903752 NOTCH1 skin,lower leg,carcinoma,NS c.5479G>T p.E1827* 9:136501907-136501907 0
247 COSM6904004 NOTCH1 skin,arm,carcinoma,NS c.1795C>T p.H599Y 9:136515591-136515591 0
248 COSM124802 NOTCH1 skin,scalp,carcinoma,NS c.1264C>T p.P422S 9:136517929-136517929 0
249 COSM6903756 NOTCH1 skin,scalp,carcinoma,NS c.5579C>T p.P1860L 9:136501807-136501807 0
250 COSM6904010 NOTCH1 skin,lower leg,carcinoma,NS c.5390T>C p.L1797P 9:136502083-136502083 0
251 COSM4855290 NOTCH1 skin,face,carcinoma,NS c.1400G>A p.C467Y 9:136517793-136517793 0
252 COSM6903589 NOTCH1 skin,scalp,carcinoma,NS c.1904-1G>A p.? 9:136515401-136515401 0
253 COSM327180 NOTCH1 skin,face,carcinoma,NS c.5554G>A p.D1852N 9:136501832-136501832 0
254 COSM6903523 NOTCH1 skin,scalp,carcinoma,NS c.335G>A p.R112H 9:136523785-136523785 0
255 COSM4520346 NOTCH1 skin,face,carcinoma,NS c.1054G>A p.D352N 9:136518636-136518636 0
256 COSM6903621 NOTCH1 skin,face,carcinoma,NS c.3154A>C p.T1052P 9:136508887-136508887 0
257 COSM3215909 NOTCH1 skin,face,carcinoma,NS c.5879T>C p.M1960T 9:136500607-136500607 0
258 COSM6903735 NOTCH1 skin,face,carcinoma,NS c.5045A>T p.N1682I 9:136503304-136503304 0
259 COSM6903543 NOTCH1 skin,lower leg,carcinoma,NS c.1016G>T p.C339F 9:136518674-136518674 0
260 COSM6903745 NOTCH1 skin,scalp,carcinoma,NS c.5153T>A p.I1718N 9:136503196-136503196 0
261 COSM1173485 NOTCH1 skin,scalp,carcinoma,NS c.1255+1G>A p.? 9:136518136-136518136 0
262 COSM6903569 NOTCH1 skin,face,carcinoma,NS c.1486A>G p.S496G 9:136517341-136517341 0
263 COSM3929937 NOTCH1 skin,scalp,carcinoma,NS c.1441+1G>A p.? 9:136517751-136517751 0
264 COSM6903667 NOTCH1 skin,face,carcinoma,NS c.4132T>C p.F1378L 9:136505764-136505764 0
265 COSM6903517 NOTCH1 skin,face,carcinoma,NS c.199C>T p.P67S 9:136523921-136523921 0
266 COSM4168233 NOTCH1 skin,scalp,carcinoma,NS c.2003C>T p.P668L 9:136515301-136515301 0
267 COSM6903519 NOTCH1 skin,face,carcinoma,NS c.200C>T p.P67L 9:136523920-136523920 0
268 COSM6903774 NOTCH1 skin,scalp,carcinoma,NS c.6664C>T p.P2222S 9:136497075-136497075 0
269 COSM6903555 NOTCH1 skin,scalp,carcinoma,NS c.1280G>A p.G427D 9:136517913-136517913 0
270 COSM6903513 NOTCH1 skin,face,carcinoma,NS c.108G>T p.K36N 9:136544056-136544056 0
271 COSM6903703 NOTCH1 skin,face,carcinoma,NS c.4417G>T p.G1473C 9:136505479-136505479 0
272 COSM6903511 NOTCH1 skin,face,carcinoma,NS c.65C>G p.P22R 9:136544099-136544099 0
273 COSM139812 NOTCH1 skin,face,carcinoma,NS c.2468-1G>A p.? 9:136511272-136511272 0
274 COSM5967154 NOTCH1 skin,back,carcinoma,NS c.5428C>T p.Q1810* 9:136502045-136502045 0
275 COSM6903515 NOTCH1 skin,face,carcinoma,NS c.113A>G p.E38G 9:136544051-136544051 0
276 COSM6904024 NOTCH1 skin,arm,carcinoma,NS c.841T>C p.C281R 9:136519467-136519467 0
277 COSM6903539 NOTCH1 skin,scalp,carcinoma,NS c.982A>G p.T328A 9:136518708-136518708 0
278 COSM6903581 NOTCH1 skin,face,carcinoma,NS c.1847G>A p.G616D 9:136515539-136515539 0
279 COSM6903527 NOTCH1 skin,lower leg,carcinoma,NS c.498C>G p.C166W 9:136523094-136523094 0
280 COSM6903529 NOTCH1 skin,scalp,carcinoma,NS c.571C>T p.H191Y 9:136523021-136523021 0
281 COSM5609593 NOTCH1 skin,lower leg,carcinoma,NS c.5414T>C p.L1805P 9:136502059-136502059 0
282 COSM6903637 NOTCH1 skin,face,carcinoma,NS c.3556G>A p.E1186K 9:136507392-136507392 0
283 COSM6903721 NOTCH1 skin,face,carcinoma,NS c.4546T>G p.F1516V 9:136505350-136505350 0
284 COSM6903643 NOTCH1 skin,back,carcinoma,NS c.3700C>G p.R1234G 9:136506917-136506917 0
285 COSM6903689 NOTCH1 skin,face,carcinoma,NS c.4309G>A p.G1437R 9:136505587-136505587 0
286 COSM6903723 NOTCH1 skin,lower leg,carcinoma,NS c.4565A>C p.Q1522P 9:136505331-136505331 0
287 COSM1461182 NOTCH1 skin,scalp,carcinoma,NS c.3901G>A p.G1301R 9:136506716-136506716 0
288 COSM3655805 NOTCH1 skin,scalp,carcinoma,NS c.3700C>T p.R1234W 9:136506917-136506917 0
289 COSM99942 NOTCH1 skin,scalp,carcinoma,NS c.1171C>T p.P391S 9:136518221-136518221 0
290 COSM5609565 NOTCH1 skin,face,carcinoma,NS c.751G>A p.G251S 9:136519557-136519557 0
291 COSM6903727 NOTCH1 skin,back,carcinoma,NS c.4625A>G p.D1542G 9:136505066-136505066 0
292 COSM6903705 NOTCH1 skin,face,carcinoma,NS c.4417G>A p.G1473S 9:136505479-136505479 0
293 COSM6903788 NOTCH1 skin,face,carcinoma,NS c.7022C>T p.S2341F 9:136496717-136496717 0
294 COSM6903687 NOTCH1 skin,scalp,carcinoma,NS c.4300G>T p.G1434C 9:136505596-136505596 0
295 COSM6903691 NOTCH1 skin,scalp,carcinoma,NS c.4336G>T p.E1446* 9:136505560-136505560 0
296 COSM6903639 NOTCH1 skin,scalp,carcinoma,NS c.3646G>A p.V1216M 9:136506971-136506971 0
297 COSM6904012 NOTCH1 skin,arm,carcinoma,NS c.6121G>A p.V2041M 9:136498958-136498958 0
298 COSM6903599 NOTCH1 skin,face,carcinoma,NS c.2578G>A p.G860S 9:136511161-136511161 0
299 COSM6903593 NOTCH1 skin,lower leg,carcinoma,NS c.2312T>C p.M771T 9:136513433-136513433 0
300 COSM6903587 NOTCH1 skin,face,carcinoma,NS c.1903G>A p.G635R 9:136515483-136515483 0
301 COSM6903743 NOTCH1 skin,scalp,carcinoma,NS c.5150A>G p.K1717R 9:136503199-136503199 0
302 COSM6903776 NOTCH1 skin,scalp,carcinoma,NS c.6697C>T p.H2233Y 9:136497042-136497042 0
303 COSM6927265 NOTCH1 skin,scalp,carcinoma,NS c.2010C>A p.Y670* 9:136515294-136515294 0
304 COSM6903615 NOTCH1 skin,scalp,carcinoma,NS c.2915C>T p.P972L 9:136509787-136509787 0
305 COSM6903605 NOTCH1 skin,face,carcinoma,NS c.2712C>G p.C904W 9:136510681-136510681 0
306 COSM4171872 NOTCH1 skin,lower leg,carcinoma,NS c.7574C>T p.P2525L 9:136496165-136496165 0
307 COSM5884808 NOTCH1 skin,face,carcinoma,NS c.4156C>A p.P1386T 9:136505740-136505740 0
308 COSM6970767 NOTCH1 skin,scalp,carcinoma,NS c.3692C>T p.P1231L 9:136506925-136506925 0
309 COSM6903537 NOTCH1 skin,lower leg,carcinoma,NS c.975C>G p.N325K 9:136518715-136518715 0
310 COSM6903619 NOTCH1 skin,face,carcinoma,NS c.3055C>T p.Q1019* 9:136508986-136508986 0
311 COSM6903719 NOTCH1 skin,scalp,carcinoma,NS c.4526G>A p.C1509Y 9:136505370-136505370 0
312 COSM6903585 NOTCH1 skin,lower leg,carcinoma,NS c.1871C>A p.A624D 9:136515515-136515515 0
313 COSM6904026 NOTCH1 skin,arm,carcinoma,NS c.464G>T p.C155F 9:136523128-136523128 0
314 COSM99609 NOTCH1 skin,scalp,carcinoma,NS c.5869C>T p.Q1957* 9:136500617-136500617 0
315 COSM6903695 NOTCH1 skin,face,carcinoma,NS c.4355C>T p.P1452L 9:136505541-136505541 0
316 COSM120968 NOTCH1 skin,arm,carcinoma,NS c.1270G>A p.E424K 9:136517923-136517923 0
317 COSM6903709 NOTCH1 skin,face,carcinoma,NS c.4424A>C p.D1475A 9:136505472-136505472 0
318 COSM6903741 NOTCH1 skin,face,carcinoma,NS c.5141T>C p.I1714T 9:136503208-136503208 0
319 COSM6903801 NOTCH1 skin,lower leg,carcinoma,NS c.7573C>T p.P2525S 9:136496166-136496166 0
320 COSM6903685 NOTCH1 skin,scalp,carcinoma,NS c.4246T>C p.C1416R 9:136505650-136505650 0
321 COSM6903535 NOTCH1 skin,face,carcinoma,NS c.968G>T p.C323F 9:136518722-136518722 0
322 COSM6903611 NOTCH1 skin,face,carcinoma,NS c.2791T>C p.C931R 9:136509911-136509911 0
323 COSM6903653 NOTCH1 skin,scalp,carcinoma,NS c.3911G>A p.C1304Y 9:136506630-136506630 0
324 COSM6903673 NOTCH1 skin,scalp,carcinoma,NS c.4168C>A p.P1390T 9:136505728-136505728 0
325 COSM6903629 NOTCH1 skin,face,carcinoma,NS c.3289C>T p.P1097S 9:136508268-136508268 0
326 COSM6903661 NOTCH1 skin,face,carcinoma,NS c.4088G>A p.C1363Y 9:136505808-136505808 0
327 COSM6903797 NOTCH1 skin,face,carcinoma,NS c.7503G>C p.Q2501H 9:136496236-136496236 0
328 COSM6903795 NOTCH1 skin,face,carcinoma,NS c.7405C>A p.P2469T 9:136496334-136496334 0
329 COSM4526736 NOTCH1 skin,scalp,carcinoma,NS c.1415G>A p.G472E 9:136517778-136517778 0
330 COSM6903764 NOTCH1 skin,face,carcinoma,NS c.5932C>T p.Q1978* 9:136500554-136500554 0
331 COSM6903613 NOTCH1 skin,scalp,carcinoma,NS c.2897G>A p.S966N 9:136509805-136509805 0
332 COSM6903553 NOTCH1 skin,scalp,carcinoma,NS c.1265C>T p.P422L 9:136517928-136517928 0
333 COSM6903799 NOTCH1 skin,scalp,carcinoma,NS c.7541C>G p.P2514R 9:136496198-136496198 0
334 COSM6927871 NF1 skin,scalp,carcinoma,NS c.4724+1G>A p.? 17:31261858-31261858 0
335 COSM6962996 NCOA3 skin,neck,carcinoma,NS c.979C>T p.H327Y 20:47634062-47634062 0
336 COSM6927247 MYCN skin,scalp,carcinoma,NS c.586C>T p.P196S 2:15942650-15942650 0
337 COSM4170532 MTOR skin,neck,carcinoma,NS c.3409G>A p.E1137K 1:11212464-11212464 0
338 COSM6927861 MSH2 skin,scalp,carcinoma,NS c.1387-1G>A p.? 2:47463030-47463030 0
339 COSM6927868 MGA skin,scalp,carcinoma,NS c.5294C>T p.S1765F 15:41743107-41743107 0
340 COSM554 KRAS skin,scalp,carcinoma,NS c.183A>C p.Q61H 12:25227341-25227341 0
341 COSM516 KRAS skin,neck,carcinoma,NS c.34G>T p.G12C 12:25245351-25245351 0
342 COSM521 KRAS skin,face,carcinoma,NS c.35G>A p.G12D 12:25245350-25245350 0
343 COSM6903505 KRAS skin,face,carcinoma,NS c.229G>A p.G77S 12:25227295-25227295 0
344 COSM3727814 KRAS skin,scalp,carcinoma,NS c.91G>A p.E31K 12:25245294-25245294 0
345 COSM6904029 KRAS skin,arm,carcinoma,NS c.185A>G p.E62G 12:25227339-25227339 0
346 COSM520 KRAS skin,face,carcinoma,NS c.35G>T p.G12V 12:25245350-25245350 0
347 COSM3670116 KRAS skin,lower leg,carcinoma,NS c.218G>T p.R73M 12:25227306-25227306 0
348 COSM6970774 KMT2D skin,scalp,carcinoma,NS c.3G>A p.M1I 12:49055322-49055322 0
349 COSM6927261 KMT2C skin,scalp,carcinoma,NS c.1717C>T p.P573S 7:152250871-152250871 0
350 COSM6927259 KMT2C skin,scalp,carcinoma,NS c.14458C>T p.Q4820* 7:152139677-152139677 0
351 COSM6962967 KMT2C skin,neck,carcinoma,NS c.11659C>T p.H3887Y 7:152158874-152158874 0
352 COSM6962983 KMT2A skin,neck,carcinoma,NS c.4377T>G p.C1459W 11:118488658-118488658 0
353 COSM5904789 KIT skin,scalp,carcinoma,NS c.440C>T p.S147F 4:54698386-54698386 0
354 COSM1666993 JAK3 skin,scalp,carcinoma,NS c.2872G>A p.E958K 19:17831334-17831334 0
355 COSM6927869 IGF1R skin,scalp,carcinoma,NS c.3289G>C p.E1097Q 15:98935418-98935418 0
356 COSM498 HRAS skin,scalp,carcinoma,NS c.182A>T p.Q61L 11:533874-533874 0
357 COSM6903489 HRAS skin,scalp,carcinoma,NS c.262A>G p.K88E 11:533794-533794 0
358 COSM490 HRAS skin,scalp,carcinoma,NS c.38G>A p.G13D 11:534285-534285 0
359 COSM483 HRAS skin,face,carcinoma,NS c.35G>T p.G12V 11:534288-534288 0
360 COSM486 HRAS skin,lower leg,carcinoma,NS c.37G>C p.G13R 11:534286-534286 0
361 COSM489 HRAS skin,back,carcinoma,NS c.38G>T p.G13V 11:534285-534285 0
362 COSM496 HRAS skin,arm,carcinoma,NS c.181C>A p.Q61K 11:533875-533875 0
363 COSM6903493 HRAS skin,face,carcinoma,NS c.409T>G p.Y137D 11:533494-533494 0
364 COSM6903487 HRAS skin,face,carcinoma,NS c.205G>C p.D69H 11:533851-533851 0
365 COSM6903485 HRAS skin,scalp,carcinoma,NS c.181C>T p.Q61* 11:533875-533875 0
366 COSM6927271 HOXB13 skin,scalp,carcinoma,NS c.467G>A p.G156E 17:48728127-48728127 0
367 COSM6438927 HGF skin,neck,carcinoma,NS c.974C>T p.P325L 7:81729671-81729671 0
368 COSM2070336 FLT1 skin,scalp,carcinoma,NS c.3062G>A p.R1021Q 13:28321575-28321575 0
369 COSM6970763 FGFR3 skin,scalp,carcinoma,NS c.1959+1G>A p.? 4:1806174-1806174 0
370 COSM6962960 FGFR3 skin,neck,carcinoma,NS c.2421A>G p.*807W 4:1807262-1807262 0
371 COSM6962980 FGFR2 skin,neck,carcinoma,NS c.2234C>T p.S745F 10:121483765-121483765 0
372 COSM6927251 FAT1 skin,scalp,carcinoma,NS c.13015C>T p.L4339F 4:186595812-186595812 0
373 COSM6927252 FAT1 skin,scalp,carcinoma,NS c.13015C>T p.L4339F 4:186595812-186595812 0
374 COSM94231 ERBB4 skin,scalp,carcinoma,NS c.2614G>A p.E872K 2:211430974-211430974 0
375 COSM6655180 EPHB1 skin,scalp,carcinoma,NS c.1103G>A p.R368Q 3:135132855-135132855 0
376 COSM6962962 EPHA7 skin,neck,carcinoma,NS c.2468G>A p.G823E 6:93254711-93254711 0
377 COSM5918388 EPHA5 skin,neck,carcinoma,NS c.2608G>A p.E870K 4:65348104-65348104 0
378 COSM6962957 EPHA3 skin,neck,carcinoma,NS c.632T>A p.M211K 3:89210338-89210338 0
379 COSM6946976 EPHA3 skin,neck,carcinoma,NS c.533G>A p.G178E 3:89210239-89210239 0
380 COSM6970777 EP300 skin,scalp,carcinoma,NS c.1411C>T p.L471F 22:41131516-41131516 0
381 COSM308015 DICER1 skin,scalp,carcinoma,NS c.4651G>A p.E1551K 14:95096269-95096269 0
382 COSM6927254 DAXX skin,scalp,carcinoma,NS c.1382C>T p.S461F 6:33320094-33320094 0
383 COSM5669 CTNNB1 skin,arm,adnexal tumour,pilomatricoma c.98C>T p.S33F 3:41224610-41224610 0
384 COSM5691 CTNNB1 skin,arm,adnexal tumour,pilomatricoma c.95A>T p.D32V 3:41224607-41224607 0
385 COSM5679 CTNNB1 skin,neck,adnexal tumour,pilomatricoma c.110C>G p.S37C 3:41224622-41224622 0
386 COSM5662 CTNNB1 skin,neck,adnexal tumour,pilomatricoma c.110C>T p.S37F 3:41224622-41224622 0
387 COSM5666 CTNNB1 skin,face,adnexal tumour,pilomatricoma c.110C>A p.S37Y 3:41224622-41224622 0
388 COSM6927245 CSF3R skin,scalp,carcinoma,NS c.1244G>A p.G415E 1:36471474-36471474 0
389 COSM21334 CDKN2A skin,scalp,carcinoma,NS c.270C>T p.F90F 9:21971089-21971089 0
390 COSM36175 CDKN2A skin,scalp,carcinoma,NS c.150+1G>A p.? 9:21974677-21974677 0
391 COSM13224 CDKN2A skin,scalp,carcinoma,NS c.242C>T p.P81L 9:21971117-21971117 0
392 COSM13223 CDKN2A skin,face,carcinoma,NS c.151-1G>A p.? 9:21971209-21971209 0
393 COSM12506 CDKN2A skin,scalp,carcinoma,NS c.148C>T p.Q50* 9:21974680-21974680 0
394 COSM6903456 CDKN2A skin,arm,carcinoma,NS c.178G>T p.A60S 9:21971181-21971181 0
395 COSM13710 CDKN2A skin,scalp,carcinoma,NS c.212A>T p.N71I 9:21971147-21971147 0
396 COSM13496 CDKN2A skin,face,carcinoma,NS c.151G>A p.V51I 9:21971208-21971208 0
397 COSM12475 CDKN2A skin,lower leg,carcinoma,NS c.238C>T p.R80* 9:21971121-21971121 0
398 COSM5608110 CDK8 skin,scalp,carcinoma,NS c.1021C>T p.P341S 13:26400540-26400540 0
399 COSM6927269 CDH1 skin,scalp,carcinoma,NS c.887A>T p.Y296F 16:68811738-68811738 0
400 COSM6962956 CASP8 skin,neck,carcinoma,NS c.1382C>T p.T461I 2:201286485-201286485 0
401 COSM3713589 CASP8 skin,neck,carcinoma,NS c.1093C>T p.L365F 2:201285055-201285055 0
402 COSM23938 BRCA2 skin,scalp,carcinoma,NS c.8524C>T p.R2842C 13:32370992-32370992 0
403 COSM6927867 BRCA2 skin,scalp,carcinoma,NS c.7663A>T p.K2555* 13:32357787-32357787 0
404 COSM6970776 BRCA2 skin,scalp,carcinoma,NS c.67G>A p.D23N 13:32316527-32316527 0
405 COSM133631 BRAF skin,face,carcinoma,NS c.1828T>A p.F610I 7:140753307-140753307 0
406 COSM133632 BRAF skin,face,carcinoma,NS c.1789C>T p.L597L 7:140753346-140753346 0
407 COSM5389844 AXL skin,scalp,carcinoma,NS c.1199C>T p.S400F 19:41239228-41239228 0
408 COSM6927879 AURKA skin,scalp,carcinoma,NS c.189G>T p.K63N 20:56386387-56386387 0
409 COSM21323 ATM skin,neck,carcinoma,NS c.1009C>T p.R337C 11:108247071-108247071 0
410 COSM6970771 ATM skin,scalp,carcinoma,NS c.5986G>A p.E1996K 11:108312478-108312478 0
411 COSM6927266 ARID2 skin,scalp,carcinoma,NS c.4923-1G>A p.? 12:45891779-45891779 0
412 COSM6927883 ARAF skin,scalp,carcinoma,NS c.1445A>C p.D482A 23:47569918-47569918 0
413 COSM6950941 APC skin,neck,carcinoma,NS c.536C>T p.S179F 5:112780794-112780794 0
414 COSM6927270 ANKRD11 skin,scalp,carcinoma,NS c.3724G>A p.A1242T 16:89282818-89282818 0
415 COSM6962953 AKT3 skin,neck,carcinoma,NS c.1164-1G>A p.? 1:243545598-243545598 0
416 COSM3355994 skin,lower leg,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 0
417 COSM4214005 skin,scalp,carcinoma,NS c.131G>A p.R44Q 13:28321575-28321575 0
418 COSM6962993 skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 0
419 COSM3675533 skin,face,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 0
420 COSM99652 skin,arm,carcinoma,NS c.1093C>T p.R365C 9:136518597-136518597 0
421 COSM3773303 skin,lower leg,carcinoma,NS c.707A>G p.Y236C 17:7674256-7674256 0
422 COSM99602 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
423 COSM5706586 skin,scalp,carcinoma,NS c.164G>A p.G55D 17:7674971-7674971 0
424 COSM6903620 skin,face,carcinoma,NS c.3154A>C p.T1052P 9:136508887-136508887 0
425 COSM6903726 skin,back,carcinoma,NS c.4625A>G p.D1542G 9:136505066-136505066 0
426 COSM6927877 skin,scalp,carcinoma,NS c.2872G>A p.E958K 19:17831334-17831334 0
427 COSM99617 skin,scalp,carcinoma,NS c.358C>T p.R120* 17:7674894-7674894 0
428 COSM99666 skin,scalp,carcinoma,NS c.190C>T p.R64* 17:7674945-7674945 0
429 COSM165073 skin,scalp,carcinoma,NS c.701A>G p.Y234C 17:7674262-7674262 0
430 COSM3092302 skin,scalp,carcinoma,NS c.242C>T p.P81L 9:21971117-21971117 0
431 COSM6903773 skin,scalp,carcinoma,NS c.6664C>T p.P2222S 9:136497075-136497075 0
432 COSM127200 skin,scalp,carcinoma,NS c.560-1G>A p.? 17:7674972-7674972 0
433 COSM139044 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 0
434 COSM6903568 skin,face,carcinoma,NS c.1486A>G p.S496G 9:136517341-136517341 0
435 COSM99667 skin,lower leg,carcinoma,NS c.307C>T p.R103* 17:7674945-7674945 0
436 COSM139811 skin,face,carcinoma,NS c.2468-1G>A p.? 9:136511272-136511272 0
437 COSM3701293 skin,face,carcinoma,NS c.706T>C p.Y236H 17:7674257-7674257 0
438 COSM6970762 skin,scalp,carcinoma,NS c.1965+1G>A p.? 4:1806174-1806174 0
439 COSM179804 skin,scalp,carcinoma,NS c.799C>T p.R267W 17:7673821-7673821 0
440 COSM1640830 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
441 COSM3378446 skin,lower leg,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 0
442 COSM3522695 skin,scalp,carcinoma,NS c.722C>T p.S241F 17:7674241-7674241 0
443 COSM3929936 skin,scalp,carcinoma,NS c.1441+1G>A p.? 9:136517751-136517751 0
444 COSM99938 skin,lower leg,carcinoma,NS c.37G>C p.G13R 11:534286-534286 0
445 COSM214172 skin,scalp,carcinoma,NS c.443C>T p.S148F 17:7674241-7674241 0
446 COSM3717629 skin,scalp,carcinoma,NS c.799C>T p.R267W 17:7673821-7673821 0
447 COSM6903516 skin,face,carcinoma,NS c.199C>T p.P67S 9:136523921-136523921 0
448 COSM214170 skin,scalp,carcinoma,NS c.722C>T p.S241F 17:7674241-7674241 0
449 COSM3092300 skin,scalp,carcinoma,NS c.408C>T p.T136T 9:21971117-21971117 0
450 COSM3717645 skin,scalp,carcinoma,NS c.724T>G p.C242G 17:7674239-7674239 0
451 COSM5752722 skin,face,carcinoma,NS c.714T>A p.C238* 17:7674249-7674249 0
452 COSM6903473 skin,scalp,carcinoma,NS c.270C>T p.F90F 9:21971089-21971089 0
453 COSM6927878 skin,scalp,carcinoma,NS c.2872G>A p.E958K 19:17831334-17831334 0
454 COSM99665 skin,scalp,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 0
455 COSM1649388 skin,scalp,carcinoma,NS c.560-1G>A p.? 17:7674972-7674972 0
456 COSM6903694 skin,face,carcinoma,NS c.4355C>T p.P1452L 9:136505541-136505541 0
457 COSM6903960 skin,scalp,carcinoma,NS c.766A>G p.T256A 17:7674197-7674197 0
458 COSM6962972 skin,neck,carcinoma,NS c.1727G>A p.S576N 9:8504347-8504347 0
459 COSM1640847 skin,scalp,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 0
460 COSM6903800 skin,lower leg,carcinoma,NS c.7573C>T p.P2525S 9:136496166-136496166 0
461 COSM1649395 skin,scalp,carcinoma,NS c.672G>T p.E224D 17:7674859-7674859 0
462 COSM120006 skin,arm,carcinoma,NS c.463C>T p.R155W 17:7674221-7674221 0
463 COSM1646810 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 0
464 COSM6962978 skin,neck,carcinoma,NS c.2237C>T p.S746F 10:121483765-121483765 0
465 COSM3378341 skin,lower leg,carcinoma,NS c.833C>T p.P278L 17:7673787-7673787 0
466 COSM3717647 skin,scalp,carcinoma,NS c.445T>G p.C149G 17:7674239-7674239 0
467 COSM5706585 skin,scalp,carcinoma,NS c.281G>A p.G94D 17:7674971-7674971 0
468 COSM6903618 skin,face,carcinoma,NS c.3055C>T p.Q1019* 9:136508986-136508986 0
469 COSM6904028 skin,arm,carcinoma,NS c.185A>G p.E62G 12:25227339-25227339 0
470 COSM6962995 skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 0
471 COSM116672 skin,lower leg,carcinoma,NS c.707A>G p.Y236C 17:7674256-7674256 0
472 COSM131545 skin,scalp,carcinoma,NS c.280+2T>A p.? 17:7675051-7675051 0
473 COSM6903796 skin,face,carcinoma,NS c.7503G>C p.Q2501H 9:136496236-136496236 0
474 COSM3522693 skin,scalp,carcinoma,NS c.856G>A p.E286K 17:7673764-7673764 0
475 COSM4169150 skin,scalp,carcinoma,NS c.91G>A p.E31K 12:25245294-25245294 0
476 COSM1640831 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 0
477 COSM3395759 skin,face,carcinoma,NS c.148C>T p.Q50* 9:21974680-21974680 0
478 COSM3732881 skin,scalp,carcinoma,NS c.578A>T p.H193L 17:7674953-7674953 0
479 COSM5389843 skin,scalp,carcinoma,NS c.1199C>T p.S400F 19:41239228-41239228 0
480 COSM6903642 skin,back,carcinoma,NS c.3700C>G p.R1234G 9:136506917-136506917 0
481 COSM6903925 skin,scalp,carcinoma,NS c.356C>T p.A119V 17:7676013-7676013 0
482 COSM6904025 skin,arm,carcinoma,NS c.464G>T p.C155F 9:136523128-136523128 0
483 COSM6970770 skin,scalp,carcinoma,NS c.5986G>A p.E1996K 11:108312478-108312478 0
484 COSM3655804 skin,scalp,carcinoma,NS c.3700C>T p.R1234W 9:136506917-136506917 0
485 COSM6903614 skin,scalp,carcinoma,NS c.2915C>T p.P972L 9:136509787-136509787 0
486 COSM6903684 skin,scalp,carcinoma,NS c.4246T>C p.C1416R 9:136505650-136505650 0
487 COSM6903964 skin,lower leg,carcinoma,NS c.863A>G p.N288S 17:7673757-7673757 0
488 COSM1350749 skin,neck,carcinoma,NS c.1009C>T p.R337C 11:108247071-108247071 0
489 COSM3701296 skin,face,carcinoma,NS c.427T>C p.Y143H 17:7674257-7674257 0
490 COSM3958829 skin,lower leg,carcinoma,NS c.536A>C p.H179P 17:7675076-7675076 0
491 COSM6903449 skin,scalp,carcinoma,NS c.150+1G>A p.? 9:21974677-21974677 0
492 COSM99615 skin,scalp,carcinoma,NS c.637C>T p.R213* 17:7674894-7674894 0
493 COSM116674 skin,lower leg,carcinoma,NS c.707A>G p.Y236C 17:7674256-7674256 0
494 COSM6655179 skin,scalp,carcinoma,NS c.1103G>A p.R368Q 3:135132855-135132855 0
495 COSM6903738 skin,face,carcinoma,NS c.5065T>C p.S1689P 9:136503284-136503284 0
496 COSM6962951 skin,neck,carcinoma,NS c.1164-1G>A p.? 1:243545598-243545598 0
497 COSM99668 skin,lower leg,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 0
498 COSM6903704 skin,face,carcinoma,NS c.4417G>A p.G1473S 9:136505479-136505479 0
499 COSM1700913 skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 0
500 COSM2744975 skin,face,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 0
501 COSM120005 skin,arm,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 0
502 COSM1700915 skin,neck,carcinoma,NS c.1252C>T p.P418S 9:8518130-8518130 0
503 COSM3732741 skin,lower leg,carcinoma,NS c.740A>T p.N247I 17:7674223-7674223 0
504 COSM6903458 skin,scalp,carcinoma,NS c.212A>T p.N71I 9:21971147-21971147 0
505 COSM6962982 skin,neck,carcinoma,NS c.4377T>G p.C1459W 11:118488658-118488658 0
506 COSM369277 skin,lower leg,carcinoma,NS c.740A>T p.N247I 17:7674223-7674223 0
507 COSM5706583 skin,scalp,carcinoma,NS c.560G>A p.G187D 17:7674971-7674971 0
508 COSM6903532 skin,scalp,carcinoma,NS c.866-1G>T p.? 9:136518825-136518825 0
509 COSM255787 skin,scalp,carcinoma,NS c.596G>T p.G199V 17:7674935-7674935 0
510 COSM6903453 skin,arm,carcinoma,NS c.344G>T p.G115V 9:21971181-21971181 0
511 COSM6903457 skin,scalp,carcinoma,NS c.378A>T p.Q126H 9:21971147-21971147 0
512 COSM6903490