Mendel,MD | Dashboard

+ Filter Options

SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

OPEN RESULT IN A NEW WINDOW

RESET FILTER | Save Config | Save Analysis

Genes:
ABL1, AKT1, APC, ATM, BRAF, CDKN2A, CTNNB1, EGFR, ERBB2, ERBB4, FBXW7, FGFR1, FGFR3, FLT3, GNAQ, HRAS, IDH1, IDH2, JAK2, KDR, KIT, KRAS, MET, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, STK11, TP53, VHL,

+ Genes associated with diseases 37

Genes at Omim

ABL1, AKT1, APC, ATM, BRAF, CDKN2A, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR3, FLT3, GNAQ, HRAS, IDH1, IDH2, JAK2, KDR, KIT, KRAS, MET, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, STK11, TP53, VHL,

ABL1	Congenital heart defects and skeletal malformations syndrome, 617602 (3) Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
AKT1	Breast cancer, somatic, 114480 (3) Colorectal cancer, somatic, 114500 (3) Cowden syndrome 6, 615109 (3) {Schizophrenia, susceptibility to}, 181500 (2) Ovarian cancer, somatic, 167000 (3) Proteus syndrome, somatic, 176920 (3)
APC	Adenoma, periampullary, somatic (3) Adenomatous polyposis coli, 175100 (3) Gardner syndrome, 175100 (3) Gastric cancer, somatic, 613659 (3) Brain tumor-polyposis syndrome 2, 175100 (3) Hepatoblastoma, somatic, 114550 (3) Colorectal cancer, somatic, 114500 (3) Desmoid disease, hereditary, 135290 (3)
ATM	Ataxia-telangiectasia, 208900 (3) Lymphoma, B-cell non-Hodgkin, somatic (3) Lymphoma, mantle cell, somatic (3) T-cell prolymphocytic leukemia, somatic (3) {Breast cancer, susceptibility to}, 114480 (3)
BRAF	Adenocarcinoma of lung, somatic, 211980 (3) Cardiofaciocutaneous syndrome, 115150 (3) Colorectal cancer, somatic (3) LEOPARD syndrome 3, 613707 (3) Melanoma, malignant, somatic (3) Nonsmall cell lung cancer, somatic (3) Noonan syndrome 7, 613706 (3)
CDKN2A	{Melanoma, cutaneous malignant, 2}, 155601 (3) Melanoma and neural system tumor syndrome, 155755 (3) Orolaryngeal cancer, multiple, (3) Pancreatic cancer/melanoma syndrome, 606719 (3)
CTNNB1	Hepatocellular carcinoma, somatic, 114550 (3) Colorectal cancer, somatic, 114500 (3) Exudative vitreoretinopathy 7, 617572 (3) Medulloblastoma, somatic, 155255 (3) Mental retardation, autosomal dominant 19, 615075 (3) Ovarian cancer, somatic, 167000 (3) Pilomatricoma, somatic, 132600 (3)
EGFR	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3) {Nonsmall cell lung cancer, susceptibility to}, 211980 (3) ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3) Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
ERBB2	Adenocarcinoma of lung, somatic, 211980 (3) Gastric cancer, somatic, 613659 (3) Glioblastoma, somatic, 137800 (3) Ovarian cancer, somatic, (3)
ERBB4	Amyotrophic lateral sclerosis 19, 615515 (3)
FGFR1	Hartsfield syndrome, 615465 (3) Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3) Encephalocraniocutaneous lipomatosis, 613001 (3) Jackson-Weiss syndrome, 123150 (3) Osteoglophonic dysplasia, 166250 (3) Pfeiffer syndrome, 101600 (3) Trigonocephaly 1, 190440 (3)
FGFR3	Bladder cancer, somatic, 109800 (3) CATSHL syndrome, 610474 (3) Cervical cancer, somatic, 603956 (3) Hypochondroplasia, 146000 (3) Achondroplasia, 100800 (3) Colorectal cancer, somatic, 114500 (3) Crouzon syndrome with acanthosis nigricans, 612247 (3) LADD syndrome, 149730 (3) Muenke syndrome, 602849 (3) Nevus, epidermal, somatic, 162900 (3) SADDAN, 616482 (3) Spermatocytic seminoma, somatic, 273300 (3) Thanatophoric dysplasia, type I, 187600 (3) Thanatophoric dysplasia, type II, 187601 (3)
FLT3	Leukemia, acute lymphoblastic, somatic, 613065 (3) Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3) Leukemia, acute myeloid, somatic, 601626 (3)
GNAQ	Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3) Sturge-Weber syndrome, somatic, mosaic, 185300 (3)
HRAS	Bladder cancer, somatic, 109800 (3) Congenital myopathy with excess of muscle spindles, 218040 (3) Costello syndrome, 218040 (3) Nevus sebaceous or woolly hair nevus, somatic, 162900 (3) Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3) Spitz nevus or nevus spilus, somatic, 137550 (3) Thyroid carcinoma, follicular, somatic, 188470 (3)
IDH1	{Glioma, susceptibility to, somatic}, 137800 (3)
IDH2	D-2-hydroxyglutaric aciduria 2, 613657 (3)
JAK2	Leukemia, acute myeloid, somatic, 601626 (3) Erythrocytosis, somatic, 133100 (3) Myelofibrosis, somatic, 254450 (3) Polycythemia vera, somatic, 263300 (3) Thrombocythemia 3, 614521 (3) {Budd-Chiari syndrome, somatic}, 600880 (3)
KDR	{Hemangioma, capillary infantile, susceptibility to}, 602089 (3) Hemangioma, capillary infantile, somatic, 602089 (3)
KIT	Gastrointestinal stromal tumor, familial, 606764 (3) Germ cell tumors, somatic, 273300 (3) Leukemia, acute myeloid, 601626 (3) Mastocytosis, cutaneous, 154800 (3) Mastocytosis, systemic, somatic, 154800 (3) Piebaldism, 172800 (3)
KRAS	Arteriovenous malformation of the brain, somatic, 108010 (3) Gastric cancer, somatic, 137215 (3) Bladder cancer, somatic, 109800 (3) Breast cancer, somatic, 114480 (3) Cardiofaciocutaneous syndrome 2, 615278 (3) Leukemia, acute myeloid, 601626 (3) Lung cancer, somatic, 211980 (3) Noonan syndrome 3, 609942 (3) Pancreatic carcinoma, somatic, 260350 (3) RAS-associated autoimmune leukoproliferative disorder, 614470 (3) Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
MET	Hepatocellular carcinoma, childhood type, somatic, 114550 (3) {Osteofibrous dysplasia, susceptibility to}, 607278 (3) ?Deafness, autosomal recessive 97, 616705 (3) Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
MPL	Myelofibrosis with myeloid metaplasia, somatic, 254450 (3) Thrombocythemia 2, 601977 (3) Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
NOTCH1	Adams-Oliver syndrome 5, 616028 (3) Aortic valve disease 1, 109730 (3)
NPM1	Leukemia, acute myeloid, somatic, 601626 (3)
NRAS	Colorectal cancer, somatic, 114500 (3) Epidermal nevus, somatic, 162900 (3) Melanocytic nevus syndrome, congenital, somatic, 137550 (3) Neurocutaneous melanosis, somatic, 249400 (3) Noonan syndrome 6, 613224 (3) ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470 (3) Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3) Thyroid carcinoma, follicular, somatic, 188470 (3)
PDGFRA	Gastrointestinal stromal tumor, somatic, 606764 (3) Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PIK3CA	CLAPO syndrome, somatic, 613089 (3) CLOVE syndrome, somatic, 612918 (3) Gastric cancer, somatic, 613659 (3) Breast cancer, somatic, 114480 (3) Hepatocellular carcinoma, somatic, 114550 (3) Colorectal cancer, somatic, 114500 (3) Cowden syndrome 5, 615108 (3) Keratosis, seborrheic, somatic, 182000 (3) Macrodactyly, somatic, 155500 (3) Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3) Nevus, epidermal, somatic, 162900 (3) Nonsmall cell lung cancer, somatic, 211980 (3) Ovarian cancer, somatic, 167000 (3)
PTEN	{Glioma susceptibility 2}, 613028 (3) {Meningioma}, 607174 (3) Cowden syndrome 1, 158350 (3) Lhermitte-Duclos syndrome, 158350 (3) Macrocephaly/autism syndrome, 605309 (3) Prostate cancer, somatic, 176807 (3)
PTPN11	Leukemia, juvenile myelomonocytic, somatic, 607785 (3) LEOPARD syndrome 1, 151100 (3) Metachondromatosis, 156250 (3) Noonan syndrome 1, 163950 (3)
RB1	Bladder cancer, somatic, 109800 (3) Osteosarcoma, somatic, 259500 (3) Retinoblastoma, 180200 (3) Retinoblastoma, trilateral, 180200 (3) Small cell cancer of the lung, somatic, 182280 (3)
RET	{Hirschsprung disease, protection against}, 142623 (3) {Hirschsprung disease, susceptibility to, 1}, 142623 (3) Central hypoventilation syndrome, congenital, 209880 (3) Medullary thyroid carcinoma, 155240 (3) Multiple endocrine neoplasia IIA, 171400 (3) Multiple endocrine neoplasia IIB, 162300 (3) Pheochromocytoma, 171300 (3)
SMAD4	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3) Myhre syndrome, 139210 (3) Pancreatic cancer, somatic, 260350 (3) Polyposis, juvenile intestinal, 174900 (3)
SMARCB1	Coffin-Siris syndrome 3, 614608 (3) {Rhabdoid tumor predisposition syndrome 1}, 609322 (3) {Schwannomatosis-1, susceptibility to}, 162091 (3) Rhabdoid tumors, somatic, 609322 (3)
STK11	Melanoma, malignant, somatic (3) Pancreatic cancer, somatic, 260350 (3) Peutz-Jeghers syndrome, 175200 (3) Testicular tumor, somatic, 273300 (3)
TP53	{Glioma susceptibility 1}, 137800 (3) Bone marrow failure syndrome 5, 618165 (3) Breast cancer, somatic, 114480 (3) Hepatocellular carcinoma, somatic, 114550 (3) {Osteosarcoma}, 259500 (3) Li-Fraumeni syndrome, 151623 (3) Nasopharyngeal carcinoma, somatic, 607107 (3) Pancreatic cancer, somatic 260350 (3) {Adrenocortical carcinoma, pediatric}, 202300 (3) {Basal cell carcinoma 7}, 614740 (3) {Choroid plexus papilloma}, 260500 (3) {Colorectal cancer}, 114500 (3)
VHL	Hemangioblastoma, cerebellar, somatic (3) Erythrocytosis, familial, 2, 263400 (3) Pheochromocytoma, 171300 (3) Renal cell carcinoma, somatic, 144700 (3) von Hippel-Lindau syndrome, 193300 (3)

Genes at Clinical Genomics Database

AKT1, APC, ATM, BRAF, CDKN2A, CTNNB1, EGFR, ERBB4, FGFR1, FGFR3, HRAS, IDH2, JAK2, KIT, KRAS, MET, MPL, NOTCH1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, STK11, TP53, VHL,

AKT1	Cowden syndrome 6 Proteus syndrome
APC	Familial adenomatous polyposis Gardner syndrome Desmoid disease, hereditary
ATM	Breast cancer, susceptibility to Ataxia-Telangiectasia
BRAF	Noonan syndrome Cardiofaciocutaneous syndrome LEOPARD syndrome 3
CDKN2A	Melanoma, familial Melanoma-pancreatic cancer syndrome
CTNNB1	Mental retardation, autosomal dominant 19
EGFR	Acute myeloid leukemia, familial Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2
ERBB4	Amyotrophic lateral sclerosis 19
FGFR1	Hypogonadotropic hypogonadism 2 with or without anosmia Trigonocephaly 1 Jackson-Weiss syndrome Pfeiffer syndrome
FGFR3	Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome Crouzon syndrome with acanthosis nigricans Lacrimoauriculodentodigital syndrome (AD) Muenke syndrome
HRAS	Costello syndrome Congenital myopathy with excess of muscle spindles
IDH2	D-2-hydroxyglutaric aciduria 2
JAK2	Thrombocythemia 3
KIT	Gastrointestinal stromal tumor
KRAS	Noonan syndrome Cardiofaciocutaneous syndrome
MET	Renal cell carcinoma, papillary Deafness, autosomal recessive 97
MPL	Thrombocythemia 2 Amegakaryocytic thrombocytopenia
NOTCH1	Aortic valve disease
NRAS	Autoimmune lymphoproliferative syndrome type IV Noonan syndrome 6
PDGFRA	Gastrointestinal stromal tumor
PIK3CA	Cowden syndrome 5
PTEN	PTEN hamartoma tumor syndrome Cowden syndrome Bannayan-Riley-Ruvalcaba syndrome Lhermitte-Duclos syndrome Glioma susceptibility 2 Meningioma, familial Endometrial cancer
PTPN11	Noonan syndrome LEOPARD syndrome 1
RB1	Retinoblastoma
RET	Central hypoventilation syndrome, congenital Multiple endocrine neoplasia, type IIA Multiple endocrine neoplasia IIB Medullary thyroid carcinoma, familial Pheochromocytoma Hirschsprung disease, susceptibility to 1
SMAD4	Hereditary hemorrhagic telangiectasia, type 1 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Polyposis, juvenile intestinal Myhre syndrome
SMARCB1	Schwannomatosis Rhabdoid tumor predisposition syndrome
STK11	Peutz-Jeghers syndrome
TP53	Li-Fraumeni syndrome Choroid plexus papilloma Ependymoma, intracranial Osteogenic sarcoma Breast cancer, familial Hepatoblastoma Non-Hodgkin lymphoma Adrenocortical carcinoma Colorectal cancer
VHL	Von Hippel Lindau Erythrocytosis, familial, 2 (Chuvash polycythemia) Pheochromocytoma

Genes at HGMD

Summary

Number of Variants: 117
Number of Genes: 38

Export to: CSV

Page 1 of 2
next

Page 1 of 2
next

ABL1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	test	9	.	133748294	32.0759	A	G	PASS	0/1	6705	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None				0.26	0.03		None None	None None None None	ABL1\|0.915754224\|3.1%
	View	test	9	.	133748340	37.8226	A	G	PASS	0/1	6711	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None				0.01	0.89		None None	None None None None	ABL1\|0.915754224\|3.1%
AKT1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	test	14	.	105246523	376.471	T	C	PASS	0/1	7067	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	AKT1\|0.999993361\|0.05%
	View	test	14	rs766000895 dbSNP Clinvar	105246478	105.872	C	T	PASS	0/1	7068	NON_SYNONYMOUS_CODING	MODERATE	None				0.14	0.07		None None	None None None None	AKT1\|0.999993361\|0.05%
APC
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	test	5	.	112175209	206.578	AAT	A	PASS	0/1	6235	FRAME_SHIFT	HIGH	None							None None	None None None None	APC\|0.952088564\|2.19%
	View	test	5	.	112175944	47.0058	A	G	PASS	0/1	4453	SYNONYMOUS_CODING	LOW	None							None None	None None None None	APC\|0.952088564\|2.19%
	View	test	5	.	112175769	21269.0	CGG	C,...	PASS	0/2	13646	FRAME_SHIFT	HIGH	None							None None	None None None None	APC\|0.952088564\|2.19%
	View	test	5	.	112175210	324.342	AT	A	PASS	0/1	6218	FRAME_SHIFT	HIGH	None							None None	None None None None	APC\|0.952088564\|2.19%
ATM
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	test	11	.	108225573	26.9568	C	T	PASS	0/1	5129	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.99		None None	None None None None	ATM\|0.992666029\|0.97%,C11orf65\|0.02654042\|71.1%
	View	test	11	rs587781894 dbSNP Clinvar	108236087	9.55533	G	A	PASS	0/1	17689	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.99		None None	None None None None	ATM\|0.992666029\|0.97%,C11orf65\|0.02654042\|71.1%
BRAF
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	test	7	.	140453173	26.5327	G	A	PASS	0/1	5586	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None				0.05	0.04		None None	None None None None	BRAF\|0.683349444\|8.98%
	View	test	7	.	140453143	30.1843	C	T	PASS	0/1	5543	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None				0.00	0.92		None None	None None None None	BRAF\|0.683349444\|8.98%
CDKN2A
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	test	9	.	21970944	89.217	T	C	PASS	0/1	5400	None	None	None							None None	None None None None	CDKN2A\|0.995180539\|0.81%
	View	test	9	.	21971041	17.2445	A	C	PASS	0/1	5628	SYNONYMOUS_CODING	LOW	None				0.00	0.95		None None	None None None None	CDKN2A\|0.995180539\|0.81%
	View	test	9	rs121913389 dbSNP Clinvar	21971028	161.711	C	T	PASS	0/1	5651	NON_SYNONYMOUS_CODING	MODERATE	None							None None	None None None None	CDKN2A\|0.995180539\|0.81%
CTNNB1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	test	3	.	41266064	454.245	GC...	AC...	PASS	0/3	7311	NON_SYNONYMOUS_CODING	MODERATE	None							None None	None None None None	CTNNB1\|0.999915618\|0.18%
EGFR
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score