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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ACVR2A, AKAP9, APC, ARID1A, ARID4B, ATM, BLNK, BRIP1, CDH5, CDKN2C, CYP2D6, DAXX, EP300, EPHA2, ERCC1, ERCC5, ESR1, FGFR2, FLI1, GAS7, GATA2, HDAC2, HDAC3, HRAS, HSP90AA1, IL7R, ITGB2, JAK1, JAK2, JMJD1C, KAT6B, KMT2C, KRAS, MAGI1, MBD1, NF1, NFKB2, NIN, NOTCH4, PDE4DIP, PIK3C2B, PIK3CA, PIK3CG, PKD1L2, PTCH1, RBBP4, SCML2, SMC1A, SNRNP200, STK33, STK36, SYK, SYNE1, THBS1, TSHR, WAPAL, WT1,

+ Genes associated with diseases 32

Genes at Omim

AKAP9, APC, ARID1A, ATM, BLNK, BRIP1, CYP2D6, EP300, EPHA2, ERCC1, ERCC5, ESR1, FGFR2, FLI1, GATA2, HRAS, IL7R, ITGB2, JAK2, KAT6B, KMT2C, KRAS, NF1, NFKB2, NIN, PIK3CA, PTCH1, SMC1A, SNRNP200, SYNE1, TSHR, WT1,

AKAP9	?Long QT syndrome-11, 611820 (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)
ARID1A	Coffin-Siris syndrome 2, 614607 (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)
BLNK	?Agammaglobulinemia 4, 613502 (3)
BRIP1	Fanconi anemia, complementation group J, 609054 (3) {Breast cancer, early-onset, susceptibility to}, 114480 (3)
CYP2D6	{Codeine sensitivity}, 608902 (3) {Debrisoquine sensitivity}, 608902 (3)
EP300	Colorectal cancer, somatic, 114500 (3) Menke-Hennekam syndrome 2, 618333 (3) Rubinstein-Taybi syndrome 2, 613684 (3)
EPHA2	Cataract 6, multiple types, 116600 (3)
ERCC1	Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC5	Cerebrooculofacioskeletal syndrome 3, 616570 (3) Xeroderma pigmentosum, group G, 278780 (3) Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
ESR1	{HDL response to hormone replacement, augmented} (3) Breast cancer, somatic, 114480 (3) {Migraine, susceptibility to}, 157300 (3) {Myocardial infarction, susceptibility to}, 608446 (3) Estrogen resistance, 615363 (3) {Atherosclerosis, susceptibility to} (3)
FGFR2	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3) Apert syndrome, 101200 (3) Gastric cancer, somatic, 613659 (3) Beare-Stevenson cutis gyrata syndrome, 123790 (3) Bent bone dysplasia syndrome, 614592 (3) Craniofacial-skeletal-dermatologic dysplasia, 101600 (3) Craniosynostosis, nonspecific (3) Crouzon syndrome, 123500 (3) Jackson-Weiss syndrome, 123150 (3) LADD syndrome, 149730 (3) Pfeiffer syndrome, 101600 (3) Saethre-Chotzen syndrome, 101400 (3) Scaphocephaly and Axenfeld-Rieger anomaly (3) Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
FLI1	Bleeding disorder, platelet-type, 21, 617443 (3)
GATA2	{Leukemia, acute myeloid, susceptibility to}, 601626 (3) {Myelodysplastic syndrome, susceptibility to}, 614286 (3) Immunodeficiency 21, 614172 (3) Emberger syndrome, 614038 (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)
IL7R	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
ITGB2	Leukocyte adhesion deficiency, 116920 (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)
KAT6B	Genitopatellar syndrome, 606170 (3) SBBYSS syndrome, 603736 (3)
KMT2C	Kleefstra syndrome 2, 617768 (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)
NF1	Leukemia, juvenile myelomonocytic, 607785 (3) Neurofibromatosis, familial spinal, 162210 (3) Neurofibromatosis, type 1, 162200 (3) Neurofibromatosis-Noonan syndrome, 601321 (3) Watson syndrome, 193520 (3)
NFKB2	Immunodeficiency, common variable, 10, 615577 (3)
NIN	?Seckel syndrome 7, 614851 (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)
PTCH1	Basal cell carcinoma, somatic, 605462 (3) Basal cell nevus syndrome, 109400 (3) Holoprosencephaly 7, 610828 (3)
SMC1A	Cornelia de Lange syndrome 2, 300590 (3)
SNRNP200	Retinitis pigmentosa 33, 610359 (3)
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
TSHR	Hyperthyroidism, familial gestational, 603373 (3) Hyperthyroidism, nonautoimmune, 609152 (3) Hypothyroidism, congenital, nongoitrous, 1 275200 (3) Thyroid adenoma, hyperfunctioning, somatic (3) Thyroid carcinoma with thyrotoxicosis (3)
WT1	Frasier syndrome, 136680 (3) Denys-Drash syndrome, 194080 (3) Meacham syndrome, 608978 (3) Mesothelioma, somatic, 156240 (3) Nephrotic syndrome, type 4, 256370 (3) Wilms tumor, type 1, 194070 (3)

Genes at Clinical Genomics Database

AKAP9, APC, ARID1A, ATM, BLNK, BRIP1, CYP2D6, EP300, EPHA2, ERCC1, ERCC5, ESR1, FGFR2, FLI1, GATA2, HRAS, IL7R, ITGB2, JAK2, KAT6B, KRAS, NF1, NFKB2, NIN, PIK3CA, PTCH1, SMC1A, SNRNP200, SYNE1, TSHR, WT1,

AKAP9	Long QT syndrome 11
APC	Familial adenomatous polyposis Gardner syndrome Desmoid disease, hereditary
ARID1A	Mental retardation, autosomal dominant 14 Coffin-Siris syndrome 2
ATM	Breast cancer, susceptibility to Ataxia-Telangiectasia
BLNK	Agammaglobulinemia 4
BRIP1	Breast cancer Fanconi anemia, complementation group J
CYP2D6	Drug metabolism, CYP2CD6-related
EP300	Rubinstein-Taybi syndrome 2
EPHA2	Cataract 6, multiple types
ERCC1	Cerebrooculofacioskeletal syndrome 4
ERCC5	Xeroderma pigmentosum, group G Xeroderma pigmentosum, group G/Cockayne syndrome
ESR1	Estrogen resistance
FGFR2	Lacrimoauriculodentodigital syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Sraniofacial-skeletal-dermatological dysplasia Crouzon syndrome Jackson-Weiss syndrome Pfeiffer syndrome Apert syndrome Beare-Stevenson cutis gyrata syndrome
FLI1	Thrombocytopenia, Paris-Trousseau type
GATA2	Immunodeficiency 21 Emberger syndrome Myelodysplastic syndrome Acute myeloid leukemia, familial Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia
HRAS	Costello syndrome Congenital myopathy with excess of muscle spindles
IL7R	Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
ITGB2	Leukocyte adhesion deficiency, type I
JAK2	Thrombocythemia 3
KAT6B	Ohdo syndrome, SBBYS variant Genitopatellar syndrome
KRAS	Noonan syndrome Cardiofaciocutaneous syndrome
NF1	Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome Watson syndrome
NFKB2	Immunodeficiency, common variable, 10
NIN	Seckel syndrome 7
PIK3CA	Cowden syndrome 5
PTCH1	Basal cell nevus syndrome
SMC1A	Cornelia de Lange syndrome 2
SNRNP200	Retinitis pigmentosa 33
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8
TSHR	Hyperthyroidism, familial, gestational Hyperthyroidism, nonautoimmune Hypothyroidism, congenital, nongoitrous, 1
WT1	Denys-Drash syndrome Wilms tumor, type 1 Frasier syndrome

Genes at HGMD

Summary

Number of Variants: 67
Number of Genes: 57

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ACVR2A
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	aml-1726_v1_non-filtered_2017-02-26_03_51_07	2	.	148676006	11.6128	CT...	CT...	PASS	0/1	360	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None							None None	None None None None	ACVR2A\|0.954874219\|2.08%
	View	aml-1726_v1_non-filtered_2017-02-26_03_51_07	2	.	148657116	2778.54	C	CA	PASS	1/1	625	FRAME_SHIFT	HIGH	None							None None	None None None None	ACVR2A\|0.954874219\|2.08%
AKAP9
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	aml-1726_v1_non-filtered_2017-02-26_03_51_07	7	.	91714910	100.0	A	AT	PASS	1/1	484	FRAME_SHIFT	HIGH	None							None None	None None None None	AKAP9\|0.267262044\|30.07%
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	aml-1726_v1_non-filtered_2017-02-26_03_51_07	5	rs2229992 dbSNP Clinvar	112162854	100.0	T	C	PASS	0/1	1076	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.50998	0.51000	0.46217				None None	None None None None	APC\|0.952088564\|2.19%
	View	aml-1726_v1_non-filtered_2017-02-26_03_51_07	5	.	112175769	100.0	CGG	C,...	PASS	0/2	771	FRAME_SHIFT	HIGH	None							None None	None None None None	APC\|0.952088564\|2.19%
ARID1A
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	aml-1726_v1_non-filtered_2017-02-26_03_51_07	1	.	27100175	10.4704	AC...	AC...	PASS	0/2	179	FRAME_SHIFT	HIGH	None							None None	None None None None	ARID1A\|0.661736896\|9.63%
ARID4B
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	aml-1726_v1_non-filtered_2017-02-26_03_51_07	1	.	235345770	36.1395	GT...	GT...	PASS	0/1	237	FRAME_SHIFT	HIGH	None							None None	None None None None	ARID4B\|0.332554915\|25.29%
	View	aml-1726_v1_non-filtered_2017-02-26_03_51_07	1	.	235394432	117.853	CTTTA	CA...	PASS	0/1	126	STOP_GAINED	HIGH	None							None None	None None None None	ARID4B\|0.332554915\|25.29%
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	aml-1726_v1_non-filtered_2017-02-26_03_51_07	11	.	108175461	100.0	AG	A	PASS	0/1	879	FRAME_SHIFT	HIGH	None							None None	None None None None	ATM\|0.992666029\|0.97%
BLNK
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	aml-1726_v1_non-filtered_2017-02-26_03_51_07	10	.	97990582	100.0	CAG	CA,CG	PASS	1/2	433	FRAME_SHIFT	HIGH	None							None None	None None None None	BLNK\|0.20887815\|35.7%
BRIP1
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	aml-1726_v1_non-filtered_2017-02-26_03_51_07	17	.	59763464	100.0	A	AC	PASS	1/1	455	FRAME_SHIFT	HIGH	None							None None	None None None None	BRIP1\|0.463785702\|17.47%
CDH5
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	aml-1726_v1_non-filtered_2017-02-26_03_51_07	16	.	66430008	100.0	AC...	AA...	PASS	5/5	409	FRAME_SHIFT	HIGH	None							None None	None None None None	CDH5\|0.237647552\|32.63%
CDKN2C