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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ADH1B, AIP, ALK, APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CCHCR1, CDH1, CDKN1C, CEP57, CHEK2, CHRNA3, DDB2, EGFR, EPCAM, ERCC2, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCE, FANCI, FANCM, HNF1A, IL13, MEN1, MET, MLH1, NBN, NF1, NSD1, PMS2, PRF1, PTCH1, RECQL4, RET, RHBDF2, RUNX1, SDHB, SLX4, SMARCB1, SUFU, TP53, TSC1, ULK4, WRN, XPC,

+ Genes associated with diseases 50

Genes at Omim

ADH1B, AIP, ALK, APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDH1, CDKN1C, CEP57, CHEK2, CHRNA3, DDB2, EGFR, EPCAM, ERCC2, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCE, FANCI, FANCM, HNF1A, IL13, MEN1, MET, MLH1, NBN, NF1, NSD1, PMS2, PRF1, PTCH1, RECQL4, RET, RHBDF2, RUNX1, SDHB, SLX4, SMARCB1, SUFU, TP53, TSC1, XPC,

ADH1B	{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3) {Alcohol dependence, protection against}, 103780 (3)
AIP	Pituitary adenoma 1, multiple types, 102200 (3) Pituitary adenoma predisposition, 102200 (3)
ALK	{Neuroblastoma, susceptibility to, 3}, 613014 (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)
BMPR1A	Juvenile polyposis syndrome, infantile form, 174900 (3) Polyposis syndrome, hereditary mixed, 2, 610069 (3) Polyposis, juvenile intestinal, 174900 (3)
BRCA1	Fanconi anemia, complementation group S, 617883 (3) {Pancreatic cancer, susceptibility to, 4}, 614320 (3) {Breast-ovarian cancer, familial, 1}, 604370 (3)
BRCA2	Fanconi anemia, complementation group D1, 605724 (3) {Glioblastoma 3}, 613029 (3) {Medulloblastoma}, 155255 (3) {Pancreatic cancer 2}, 613347 (3) {Prostate cancer}, 176807 (3) Wilms tumor, 194070 (3) {Breast cancer, male, susceptibility to}, 114480 (3) {Breast-ovarian cancer, familial, 2}, 612555 (3)
BRIP1	Fanconi anemia, complementation group J, 609054 (3) {Breast cancer, early-onset, susceptibility to}, 114480 (3)
BUB1B	Colorectal cancer, somatic, 114500 (3) Mosaic variegated aneuploidy syndrome 1, 257300 (3) [Premature chromatid separation trait], 176430 (3)
CDH1	Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, 137215 (3) Blepharocheilodontic syndrome 1, 119580 (3) Endometrial carcinoma, somatic, 608089 (3) {Prostate cancer, susceptibility to}, 176807 (3) Ovarian cancer, somatic, 167000 (3) {Breast cancer, lobular}, 114480 (3)
CDKN1C	Beckwith-Wiedemann syndrome, 130650 (3) IMAGE syndrome, 614732 (3)
CEP57	Mosaic variegated aneuploidy syndrome 2, 614114 (3)
CHEK2	Li-Fraumeni syndrome, 609265 (3) {Prostate cancer, familial, susceptibility to}, 176807 (3) Osteosarcoma, somatic, 259500 (3) {Breast and colorectal cancer, susceptibility to} (3) {Breast cancer, susceptibility to}, 114480 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
DDB2	Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (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)
EPCAM	Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3) Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
ERCC2	?Cerebrooculofacioskeletal syndrome 2, 610756 (3) Trichothiodystrophy 1, photosensitive, 601675 (3) Xeroderma pigmentosum, group D, 278730 (3)
ERCC4	Fanconi anemia, complementation group Q, 615272 (3) ?XFE progeroid syndrome, 610965 (3) Xeroderma pigmentosum, group F, 278760 (3) Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)
ERCC5	Cerebrooculofacioskeletal syndrome 3, 616570 (3) Xeroderma pigmentosum, group G, 278780 (3) Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
EXT1	Chondrosarcoma, 215300 (3) Exostoses, multiple, type 1, 133700 (3)
EXT2	Exostoses, multiple, type 2, 133701 (3) ?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3)
EZH2	Weaver syndrome, 277590 (3)
FANCA	Fanconi anemia, complementation group A, 227650 (3)
FANCE	Fanconi anemia, complementation group E, 600901 (3)
FANCI	Fanconi anemia, complementation group I, 609053 (3)
FANCM	?Premature ovarian failure 15, 618096 (3) Spermatogenic failure 28, 618086 (3)
HNF1A	Hepatic adenoma, somatic, 142330 (3) Diabetes mellitus, insulin-dependent, 20, 612520 (3) MODY, type III, 600496 (3) Renal cell carcinoma, 144700 (3) {Diabetes mellitus, insulin-dependent}, 222100 (3) {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
IL13	{Allergic rhinitis, susceptibility to}, 607154 (3) {Asthma, susceptibility to}, 600807 (3)
MEN1	Adrenal adenoma, somatic (3) Angiofibroma, somatic (3) Carcinoid tumor of lung (3) Lipoma, somatic (3) Multiple endocrine neoplasia 1, 131100 (3) Parathyroid adenoma, somatic (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)
MLH1	Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3) Mismatch repair cancer syndrome, 276300 (3) Muir-Torre syndrome, 158320 (3)
NBN	Aplastic anemia, 609135 (3) Leukemia, acute lymphoblastic, 613065 (3) Nijmegen breakage syndrome, 251260 (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)
NSD1	Leukemia, acute myeloid, 601626 (1) Sotos syndrome 1, 117550 (3)
PMS2	Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) Mismatch repair cancer syndrome, 276300 (3)
PRF1	Aplastic anemia, 609135 (3) Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) Lymphoma, non-Hodgkin, 605027 (3)
PTCH1	Basal cell carcinoma, somatic, 605462 (3) Basal cell nevus syndrome, 109400 (3) Holoprosencephaly 7, 610828 (3)
RECQL4	Baller-Gerold syndrome, 218600 (3) RAPADILINO syndrome, 266280 (3) Rothmund-Thomson syndrome, 268400 (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)
RHBDF2	Tylosis with esophageal cancer, 148500 (3)
RUNX1	Leukemia, acute myeloid, 601626 (3) Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)
SDHB	Gastrointestinal stromal tumor, 606764 (3) Paraganglioma and gastric stromal sarcoma, 606864 (3) Paragangliomas 4, 115310 (3) Pheochromocytoma, 171300 (3)
SLX4	Fanconi anemia, complementation group P, 613951 (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)
SUFU	Basal cell nevus syndrome, 109400 (3) {Meningioma, familial, susceptibility to}, 607174 (3) Joubert syndrome 32, 617757 (3) Medulloblastoma, desmoplastic, 155255 (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)
TSC1	Focal cortical dysplasia, type II, somatic, 607341 (3) Lymphangioleiomyomatosis, 606690 (3) Tuberous sclerosis-1, 191100 (3)
XPC	Xeroderma pigmentosum, group C, 278720 (3)

Genes at Clinical Genomics Database

AIP, ALK, APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDH1, CDKN1C, CEP57, CHEK2, DDB2, EGFR, EPCAM, ERCC2, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCE, FANCI, FANCM, HNF1A, MEN1, MET, MLH1, NBN, NF1, NSD1, PMS2, PRF1, PTCH1, RECQL4, RET, RHBDF2, RUNX1, SDHB, SLX4, SMARCB1, SUFU, TP53, TSC1, WRN, XPC,

AIP	Pituitary adenoma, familial isolated
ALK	Neuroblastoma, susceptibility to, 3
APC	Familial adenomatous polyposis Gardner syndrome Desmoid disease, hereditary
ATM	Breast cancer, susceptibility to Ataxia-Telangiectasia
BMPR1A	Polyposis syndrome, hereditary mixed, 2 Polyposis, juvenile intestinal
BRCA1	Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4
BRCA2	Breast-ovarian cancer, familial, susceptibility to Pancreatic cancer, susceptibility to, 2 Glioma susceptibility 3 Fanconi anemia, complementation group D1 Wilms tumor Medulloblastoma
BRIP1	Breast cancer Fanconi anemia, complementation group J
BUB1B	Mosaic variegated aneuploidy syndrome Premature chromatid separation trait
CDH1	CDH1-related cancer
CDKN1C	IMAGE syndrome Beckwith-Wiedemann syndrome
CEP57	Mosaic variegated aneuploidy syndrome 2
CHEK2	Li-Fraumeni syndrome 2
DDB2	Xeroderma pigmentosum, group E
EGFR	Acute myeloid leukemia, familial Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2
EPCAM	Colorectal cancer, hereditary nonpolyposis, type 8 Diarrhea 5, with tufting enteropathy, congenital
ERCC2	Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D
ERCC4	Fanconi anemia, complementation group Q Xeroderma pigmentosum, group F
ERCC5	Xeroderma pigmentosum, group G Xeroderma pigmentosum, group G/Cockayne syndrome
EXT1	Exostoses, multiple, type 1
EXT2	Exostoses, multiple, type 2
EZH2	Weaver syndrome
FANCA	Fanconi anemia, complementation group A
FANCE	Fanconi anemia, complementation group E
FANCI	Fanconi anemia, complementation group I
FANCM	Fanconi anemia type M
HNF1A	Renal cell carcinoma, nonpapillary clear cell Liver adenomatosis Maturity onset diabetes of the young, type III
MEN1	Multiple endocrine neoplasia type I Hyperparathyroidism, familial primary
MET	Renal cell carcinoma, papillary Deafness, autosomal recessive 97
MLH1	Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome Endometrial cancer Muir-Torre syndrome
NBN	Breast cancer, susceptibility to Nijmegen breakage syndrome
NF1	Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome Watson syndrome
NSD1	Sotos syndrome Weaver syndrome Beckwith-Wiedemann syndrome
PMS2	Colorectal cancer, hereditary nonpolyposis type 4 Mismatch repair cancer syndrome
PRF1	Hemophagocytic lymphohistiocytosis, familial, 2 Lymphoma, non-Hodgkin Aplastic anemia, adult-onset
PTCH1	Basal cell nevus syndrome
RECQL4	Baller-Gerold syndrome RAPADILINO syndrome Rothmund-Thomson syndrome
RET	Central hypoventilation syndrome, congenital Multiple endocrine neoplasia, type IIA Multiple endocrine neoplasia IIB Medullary thyroid carcinoma, familial Pheochromocytoma Hirschsprung disease, susceptibility to 1
RHBDF2	Tylosis with esophageal cancer
RUNX1	Platelet disorder, familial, with associated myeloid malignancy
SDHB	Cowden-like syndrome Paraganglioma and gastric stromal sarcoma Gastrointestinal stromal tumor Pheochromocytoma Paragangliomas 4
SLX4	Fanconi anemia type P
SMARCB1	Schwannomatosis Rhabdoid tumor predisposition syndrome
SUFU	Medulloblastoma Basal cell nevus syndrome
TP53	Li-Fraumeni syndrome Choroid plexus papilloma Ependymoma, intracranial Osteogenic sarcoma Breast cancer, familial Hepatoblastoma Non-Hodgkin lymphoma Adrenocortical carcinoma Colorectal cancer
TSC1	Tuberous sclerosis Lymphangioleiomyomatosis
WRN	Werner syndrome
XPC	Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 289
Number of Genes: 53

Export to: CSV

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ADH1B
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	5_s5	4	rs1229984 dbSNP Clinvar	100239319	5975.77	T	C	PASS	0/1	592	NON_SYNONYMOUS_CODING	MODERATE	None	0.84145	0.84150	0.03652	0.65	0.00		None None	None None None None	ADH1B\|0.074839204\|56.32%
AIP
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	5_s5	11	rs4930199 dbSNP Clinvar	67258391	43936.36	A	G	PASS	1/1	1562	NON_SYNONYMOUS_CODING	MODERATE	None	0.99940	0.99940	0.00023	1.00	0.00		None None	None None None None	AIP\|0.191995289\|37.6%
	View	5_s5	11	rs641081 dbSNP Clinvar	67257823	38602.18	C	A	PASS	1/1	1560	NON_SYNONYMOUS_CODING	MODERATE	None	0.84545	0.84540	0.16574	1.00	0.00		None None	None None None None	AIP\|0.191995289\|37.6%
ALK
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	5_s5	2	rs2256740 dbSNP Clinvar	29455267	16349.66	A	G	PASS	1/1	604	SYNONYMOUS_CODING	LOW	None	0.50000	0.50000	0.33861				None None	None None None None	ALK\|0.859785808\|4.47%
	View	5_s5	2	rs4358080 dbSNP Clinvar	30143499	26549.66	G	C	PASS	1/1	939	SYNONYMOUS_CODING	LOW	None	0.89377	0.89380	0.09071				None None	None None None None	ALK\|0.859785808\|4.47%
	View	5_s5	2	rs1881421 dbSNP Clinvar	29416366	8878.65	G	C	PASS	0/1	893	NON_SYNONYMOUS_CODING	MODERATE	None	0.57288	0.57290	0.43349	1.00	0.00		None None	None None None None	ALK\|0.859785808\|4.47%
	View	5_s5	2	rs2293563 dbSNP Clinvar	29449819	8998.29	C	T	PASS	0/1	759	SYNONYMOUS_CODING	LOW	None	0.16993	0.16990	0.18961				None None	None None None None	ALK\|0.859785808\|4.47%
	View	5_s5	2	rs1670283 dbSNP Clinvar	29416572	21505.88	T	C	PASS	1/1	746	NON_SYNONYMOUS_CODING	MODERATE	None	0.99221	0.99220	0.00969	0.71	0.00		None None	None None None None	ALK\|0.859785808\|4.47%
	View	5_s5	2	rs56132472 dbSNP Clinvar	29416615	12147.71	G	A	PASS	0/1	1193	SYNONYMOUS_CODING	LOW	None	0.05911	0.05911	0.10326				None None	None None None None	ALK\|0.859785808\|4.47%
	View	5_s5	2	rs2246745 dbSNP Clinvar	29940529	11154.22	A	T	PASS	1/1	455	SYNONYMOUS_CODING	LOW	None	0.58926	0.58930	0.37298				None None	None None None None	ALK\|0.859785808\|4.47%
	View	5_s5	2	rs2293564 dbSNP Clinvar	29543663	8726.02	T	C	PASS	1/1	284	SYNONYMOUS_CODING	LOW	None	0.77656	0.77660	0.20906				None None	None None None None	ALK\|0.859785808\|4.47%
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	5_s5	5	rs351771 dbSNP Clinvar	112164561	38122.79	G	A	PASS	1/1	1451	SYNONYMOUS_CODING	LOW	None	0.66613	0.66610	0.41357				None None	None None None None	APC\|0.952088564\|2.19%
	View	5_s5	5	rs2229992 dbSNP Clinvar	112162854	16009.87	T	C	PASS	1/1	528	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.50998	0.51000	0.46217				None None	None None None None	APC\|0.952088564\|2.19%
	View	5_s5	5	rs465899 dbSNP Clinvar	112177171	54824.97	G	A	PASS	1/1	2010	SYNONYMOUS_CODING	LOW	None	0.66653	0.66650	0.41309				None None	None None None None	APC\|0.952088564\|2.19%
	View	5_s5	5	rs459552 dbSNP Clinvar	112176756	45887.58	T	A	PASS	1/1	1557	NON_SYNONYMOUS_CODING	MODERATE	None	0.86542	0.86540	0.17374	0.50	0.00		None None	None None None None	APC\|0.952088564\|2.19%
	View	5_s5	5	rs866006 dbSNP Clinvar	112176559	32858.65	T	G	PASS	1/1	1119	SYNONYMOUS_CODING	LOW	None	0.66693	0.66690	0.41201				None None	None None None None	APC\|0.952088564\|2.19%
	View	5_s5	5	rs755806668 dbSNP Clinvar	112173947	10606.36	C	G	PASS	0/1	1079	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.62		None None	None None None None	APC\|0.952088564\|2.19%
	View	5_s5	5	rs42427 dbSNP Clinvar	112176325	13999.47	G	A	PASS	1/1	491	SYNONYMOUS_CODING	LOW	None	0.66673	0.66670	0.40987				None None	None None None None	APC\|0.952088564\|2.19%
	View	5_s5	5	rs41115 dbSNP Clinvar	112175770	39482.72	G	A	PASS	1/1	1258	PROTEIN_PROTEIN_INTERACTION_LOCUS	HIGH	None	0.66554	0.66550	0.41378				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	5_s5	11	rs659243 dbSNP Clinvar	108183167	18372.83	A	G	PASS	1/1	687	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000		1.00	0.00		None None	None None None None	ATM\|0.992666029\|0.97%,C11orf65\|0.02654042\|71.1%
BMPR1A
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	5_s5	10	rs11528010 dbSNP Clinvar	88635779	11139.56	C	A	PASS	0/1	971	NON_SYNONYMOUS_CODING	MODERATE	None	0.49980	0.49980	0.38951	1.00	0.00		None None	None None None None	BMPR1A\|0.266176156\|30.17%
BRCA1