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

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Genes:
ATR, AXIN2, BRCA2, BRIP1, CDH1, CSMD1, EGFR, ERBB3, ERCC4, ESR1, FBXO32, GATA3, GEN1, HERC1, KMT2C, MAP3K1, MED12, MEN1, MSH6, MUC16, NF1, PALLD, PCGF2, PMS2, PTGFR, RET, SMARCA4, SYNE1, ZBED4,

+ Genes associated with diseases 22

Genes at Omim

ATR, AXIN2, BRCA2, BRIP1, CDH1, EGFR, ERBB3, ERCC4, ESR1, GATA3, HERC1, KMT2C, MAP3K1, MED12, MEN1, MSH6, NF1, PALLD, PMS2, RET, SMARCA4, SYNE1,

ATR	?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3) Seckel syndrome 1, 210600 (3)
AXIN2	Colorectal cancer, somatic, 114500 (3) Oligodontia-colorectal cancer syndrome, 608615 (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)
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)
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)
ERBB3	?Lethal congenital contractural syndrome 2, 607598 (3) {?Erythroleukemia, familial, susceptibility to}, 133180 (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)
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)
GATA3	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3)
HERC1	Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
MED12	Lujan-Fryns syndrome, 309520 (3) Ohdo syndrome, X-linked, 300895 (3) Opitz-Kaveggia syndrome, 305450 (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)
MSH6	Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3) Mismatch repair cancer syndrome, 276300 (3) {Endometrial cancer, familial}, 608089 (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)
PALLD	{Pancreatic cancer, susceptibility to, 1}, 606856 (3)
PMS2	Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) Mismatch repair cancer syndrome, 276300 (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)
SMARCA4	Coffin-Siris syndrome 4, 614609 (3) {Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)

Genes at Clinical Genomics Database

ATR, AXIN2, BRCA2, BRIP1, CDH1, EGFR, ERBB3, ERCC4, ESR1, GATA3, MAP3K1, MED12, MEN1, MSH6, NF1, PMS2, RET, SMARCA4, SYNE1,

ATR	Cutaneous telangiectasia and cancer syndrome, familial Seckel syndrome 1
AXIN2	Oligodontia-colorectal cancer syndrome
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
CDH1	CDH1-related cancer
EGFR	Acute myeloid leukemia, familial Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2
ERBB3	Lethal congenital contractural syndrome 2
ERCC4	Fanconi anemia, complementation group Q Xeroderma pigmentosum, group F
ESR1	Estrogen resistance
GATA3	Hypoparathyroidism, sensorineural deafness, and renal dysplasia
MAP3K1	46,XY sex reversal 6
MED12	Lujan-Fryns syndrome Opitz-Kaveggia syndrome Mental retardation, X-linked, with Marfanoid habitus FG syndrome Ohdo syndrome
MEN1	Multiple endocrine neoplasia type I Hyperparathyroidism, familial primary
MSH6	Colorectal cancer, hereditary nonpolyposis type 5 Mismatch repair cancer syndrome Endometrial cancer
NF1	Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome Watson syndrome
PMS2	Colorectal cancer, hereditary nonpolyposis type 4 Mismatch repair cancer 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
SMARCA4	Rhabdoid tumor predisposition syndrome 2
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8

Genes at HGMD

Summary

Number of Variants: 94
Number of Genes: 29

Export to: CSV

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ATR
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	breast1 1	3	rs2227931 dbSNP Clinvar	142222284	200.0	A	G	.	0/1	261	SYNONYMOUS_CODING	LOW	None	0.31250	0.31250	0.34957				None None	None None None None	ATR\|0.696057424\|8.61%
	View	breast1 1	3	rs1802904 dbSNP Clinvar	142168331	200.0	C	T	.	1/1	197	SYNONYMOUS_CODING	LOW	None	0.91633	0.91630	0.10218				None None	None None None None	ATR\|0.696057424\|8.61%
	View	breast1 1	3	rs2227930 dbSNP Clinvar	142277575	200.0	A	T	.	0/1	181	SYNONYMOUS_CODING	LOW	None	0.59804	0.59800	0.33700				None None	None None None None	ATR\|0.696057424\|8.61%
	View	breast1 1	3	rs2227929 dbSNP Clinvar	142277536	200.0	A	G	.	0/1	336	SYNONYMOUS_CODING	LOW	None	0.31070	0.31070	0.34576				None None	None None None None	ATR\|0.696057424\|8.61%
AXIN2
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	breast1 1	17	rs9915936 dbSNP Clinvar	63533789	200.0	T	C	.	1/1	86	SYNONYMOUS_CODING	LOW	None	0.90974	0.90970	0.08912				None None	None None None None	AXIN2\|0.837375797\|4.92%
	View	breast1 1	17	rs1133683 dbSNP Clinvar	63533768	200.0	G	A	.	0/1	80	SYNONYMOUS_CODING	LOW	None	0.44609	0.44610	0.45993				None None	None None None None	AXIN2\|0.837375797\|4.92%
BRCA2
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	breast1 1	13	rs206075 dbSNP Clinvar	32913055	200.0	A	G	.	1/1	194	SYNONYMOUS_CODING	LOW	None	0.97404	0.97400	0.02423				None None	None None None None	BRCA2\|0.561492787\|13.3%
	View	breast1 1	13	rs1801406 dbSNP Clinvar	32911888	200.0	A	G	.	0/1	200	SYNONYMOUS_CODING	LOW	None	0.26677	0.26680	0.27984				None None	None None None None	BRCA2\|0.561492787\|13.3%
	View	breast1 1	13	rs1799955 dbSNP Clinvar	32929232	200.0	A	G	.	0/1	229	SYNONYMOUS_CODING	LOW	None	0.23263	0.23260	0.21136				None None	None None None None	BRCA2\|0.561492787\|13.3%
	View	breast1 1	13	rs206076 dbSNP Clinvar	32915005	200.0	G	C	.	1/1	326	SYNONYMOUS_CODING	LOW	None	0.00040	0.97360	0.02453				None None	None None None None	BRCA2\|0.561492787\|13.3%
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	breast1 1	17	rs4986765 dbSNP Clinvar	59763465	200.0	T	C	.	1/1	288	SYNONYMOUS_CODING	LOW	None	0.81510	0.81510	0.26572				None None	None None None None	BRIP1\|0.463785702\|17.47%
	View	breast1 1	17	rs4986763 dbSNP Clinvar	59760996	200.0	A	G	.	1/1	213	SYNONYMOUS_CODING	LOW	None	0.62081	0.62080	0.39396				None None	None None None None	BRIP1\|0.463785702\|17.47%
CDH1
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	breast1 1	16	rs33964119 dbSNP Clinvar	68862165	200.0	C	T	.	0/1	212	SYNONYMOUS_CODING	LOW	None	0.05451	0.05451	0.03755				None None	None None None None	CDH1\|0.998372534\|0.51%
	View	breast1 1	16	rs1801552 dbSNP Clinvar	68857441	200.0	T	C	.	1/1	161	SYNONYMOUS_CODING	LOW	None	0.71865	0.71870	0.28386				None None	None None None None	CDH1\|0.998372534\|0.51%
CSMD1
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	breast1 1	8	rs10088378 dbSNP Clinvar	3265590	200.0	C	T	.	0/1	205	SYNONYMOUS_CODING	LOW	None	0.60304	0.60300	0.32955				None None	None None None None	CSMD1\|0.119480951\|47.53%
	View	breast1 1	8	rs3802303 dbSNP Clinvar	3253768	200.0	C	T	.	0/1	87	SYNONYMOUS_CODING	LOW	None	0.29972	0.29970	0.38278				None None	None None None None	CSMD1\|0.119480951\|47.53%
	View	breast1 1	8	rs141170475 dbSNP Clinvar	3165949	200.0	G	C	.	0/1	104	SYNONYMOUS_CODING	LOW	None	0.00060	0.00060	0.00509				None None	None None None None	CSMD1\|0.119480951\|47.53%
	View	breast1 1	8	rs3824271 dbSNP Clinvar	2965244	200.0	T	C	.	1/1	177	SYNONYMOUS_CODING	LOW	None	0.83966	0.83970	0.21177				None None	None None None None	CSMD1\|0.119480951\|47.53%
	View	breast1 1	8	rs35071327 dbSNP Clinvar	2910075	200.0	C	T	.	0/1	174	SYNONYMOUS_CODING	LOW	None	0.01697	0.01697	0.01811				None None	None None None None	CSMD1\|0.119480951\|47.53%
	View	breast1 1	8	rs6558703 dbSNP Clinvar	2910020	200.0	A	G	.	1/1	106	SYNONYMOUS_CODING	LOW	None	0.98263	0.98260	0.01646				None None	None None None None	CSMD1\|0.119480951\|47.53%
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
	View	breast1 1	7	rs1140475 dbSNP Clinvar	55266417	200.0	T	C	.	1/1	114	SYNONYMOUS_CODING	LOW	None	0.91673	0.91670	0.11095				None None	None None None None	EGFR\|0.999639222\|0.3%
	View	breast1 1	7	rs2072454 dbSNP Clinvar	55214348	200.0	C	T	.	0/1	156	SYNONYMOUS_CODING	LOW	None	0.47544	0.47540	0.48485				None None	None None None None	EGFR\|0.999639222\|0.3%
	View	breast1 1	7	rs2227984 dbSNP Clinvar	55238874	200.0	T	A	.	0/1	56	SYNONYMOUS_CODING	LOW	None	0.39038	0.39040	0.32247				None None	None None None None	EGFR\|0.999639222\|0.3%
ERBB3
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	breast1 1	12	rs2271189 dbSNP Clinvar	56494991	200.0	G	A	.	0/1	168	SYNONYMOUS_CODING	LOW	None	0.25220	0.25220	0.31009				None None	None None None None	ERBB3\|0.97045103\|1.7%
ERCC4
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	breast1 1	16	rs1799801 dbSNP Clinvar	14041958	200.0	T	C	.	0/1	162	SYNONYMOUS_CODING	LOW	None	0.24121	0.24120	0.25319				None None	None None None None	ERCC4\|0.251241672\|31.43%
ESR1
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	breast1 1	6	rs746432 dbSNP Clinvar	152129308	200.0	G	C	.	0/1	137	SYNONYMOUS_CODING	LOW	None	0.03874	0.03874	0.06013				None None	None None None None	ESR1\|0.999988884\|0.07%
	View	breast1 1	6	rs2077647 dbSNP Clinvar	152129077	200.0	T	C	.	1/1	167	SYNONYMOUS_CODING	LOW	None	0.46645	0.46650	0.47886				None None	None None None None	ESR1\|0.999988884\|0.07%
	View	breast1 1	6	rs4986934 dbSNP Clinvar	152201875	200.0	T	C	.	1/1	320	SYNONYMOUS_CODING	LOW	None	0.98562	0.98560	0.02922				None None	None None None None	ESR1\|0.999988884\|0.07%
	View	breast1 1	6	rs1801132 dbSNP Clinvar	152265522	200.0	G	C	.	1/1	231	SYNONYMOUS_CODING	LOW	None	0.71765	0.71770	0.18561				None None	None None None None	ESR1\|0.999988884\|0.07%
FBXO32
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	breast1 1	8	rs4871385 dbSNP Clinvar	124553222	200.0	G	C	.	1/1	112	SYNONYMOUS_CODING	LOW	None	0.12121	0.12120	0.17056				None None	None None None None	FBXO32\|0.30446945\|27.33%
GATA3
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	breast1 1	10	rs35508267 dbSNP Clinvar	8100599	200.0	C	T	.	0/1	211	SYNONYMOUS_CODING	LOW	None	0.00719	0.00719	0.00415				None None	None None None None	GATA3\|0.920039211\|2.99%
GEN1
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	breast1 1	2	rs300168 dbSNP Clinvar	17962450	200.0	A	G	.	0/1	162	SYNONYMOUS_CODING	LOW	None	0.57388	0.57390	0.42611				None None	None None None None	SMC6\|0.388142286\|21.54%,GEN1\|0.066229804\|58.31%
HERC1
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	breast1 1	15	rs10851731 dbSNP Clinvar	63922752	200.0	T	A	.	1/1	130	SYNONYMOUS_CODING	LOW	None	0.63678	0.63680	0.12761				None None	None None None None	HERC1\|0.415865937\|19.82%
	View	breast1 1	15	rs2228517 dbSNP Clinvar	63932513	200.0	G	C	.	0/1	242	SYNONYMOUS_CODING	LOW	None	0.32149	0.32150	0.46470				None None	None None None None	HERC1\|0.415865937\|19.82%
	View	breast1 1	15	rs2228511 dbSNP Clinvar	63954029	200.0	C	T	.	1/1	174	SYNONYMOUS_CODING	LOW	None	0.63538	0.63540	0.12847				None None	None None None None	HERC1\|0.415865937\|19.82%
KMT2C
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	breast1 1	7	rs2537263 dbSNP Clinvar	151945140	200.0	C	T	.	0/1	498	SYNONYMOUS_CODING	LOW	None							None None	None None None None	KMT2C\|0.088346598\|53.58%
MAP3K1
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	breast1 1	5	rs832575 dbSNP Clinvar	56161787	200.0	G	A	.	1/1	203	SYNONYMOUS_CODING	LOW	None	0.80431	0.80430	0.14699				None None	None None None None	MAP3K1\|0.554683454\|13.53%
	View	breast1 1	5	rs28710284 dbSNP Clinvar	56111751	200.0	G	C	.	1/1	51	SYNONYMOUS_CODING	LOW	None	0.68570	0.68570					None None	None None None None	MAP3K1\|0.554683454\|13.53%
	View	breast1 1	5	rs832583 dbSNP Clinvar	56178217	200.0	A	C	.	1/1	104	SYNONYMOUS_CODING	LOW	None	0.70827	0.70830	0.20053				None None	None None None None	MAP3K1\|0.554683454\|13.53%
MED12
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	breast1 1	X	rs5030619 dbSNP Clinvar	70349947	200.0	A	C	.	0/1	119	SYNONYMOUS_CODING	LOW	None	0.11099	0.11100	0.22591				None None	None None None None	MED12\|0.779576048\|6.34%
MEN1
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	breast1 1	11	rs2071313 dbSNP Clinvar	64572602	200.0	G	A	.	1/1	228	SYNONYMOUS_CODING	LOW	None	0.30791	0.30790	0.30402				None None	None None None None	MEN1\|0.661753232\|9.63%
	View	breast1 1	11	rs540012 dbSNP Clinvar	64572557	200.0	A	G	.	1/1	225	SYNONYMOUS_CODING	LOW	None	0.97604	0.97600	0.02385				None None	None None None None	MEN1\|0.661753232\|9.63%
MSH6
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	breast1 1	2	rs1800937 dbSNP Clinvar	48025764	200.0	C	T	.	0/1	123	SYNONYMOUS_CODING	LOW	None	0.02855	0.02855	0.06912				None None	None None None None	MSH6\|0.783268365\|6.24%,FBXO11\|0.866072996\|4.34%
	View	breast1 1	2	rs1800935 dbSNP Clinvar	48023115	200.0	T	C	.	0/1	357	SYNONYMOUS_CODING	LOW	None	0.13518	0.13520	0.25065				None None	None None None None	MSH6\|0.783268365\|6.24%,FBXO11\|0.866072996\|4.34%
MUC16
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	breast1 1	19	rs2194168 dbSNP Clinvar	9060605	200.0	G	A	.	1/1	110	SYNONYMOUS_CODING	LOW	None	0.85683	0.85680	0.11688				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs12976721 dbSNP Clinvar	9090531	200.0	T	C	.	0/1	179	SYNONYMOUS_CODING	LOW	None	0.21605	0.21610	0.30504				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs1609459 dbSNP Clinvar	9084216	200.0	T	C	.	0/1	97	SYNONYMOUS_CODING	LOW	None	0.22644	0.22640	0.30457				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs1609460 dbSNP Clinvar	9084183	200.0	G	A	.	0/1	78	SYNONYMOUS_CODING	LOW	None	0.41633	0.41630	0.44915				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs12608495 dbSNP Clinvar	9083124	200.0	G	A	.	0/1	168	SYNONYMOUS_CODING	LOW	None	0.13898	0.13900	0.23069				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs1862461 dbSNP Clinvar	9077264	200.0	T	G	.	0/1	103	SYNONYMOUS_CODING	LOW	None	0.24960	0.24960	0.26474				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs2591596 dbSNP Clinvar	9077060	200.0	C	T	.	0/1	86	SYNONYMOUS_CODING	LOW	None	0.24840	0.24840	0.26218				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs2591595 dbSNP Clinvar	9076991	200.0	C	T	.	0/1	118	SYNONYMOUS_CODING	LOW	None	0.24820	0.24820	0.26282				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs2547073 dbSNP Clinvar	9076163	200.0	C	T	.	0/1	110	SYNONYMOUS_CODING	LOW	None	0.24820	0.24820	0.26191				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs2547071 dbSNP Clinvar	9075737	200.0	T	C	.	0/1	78	SYNONYMOUS_CODING	LOW	None	0.45607	0.45610	0.42799				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs2547070 dbSNP Clinvar	9075635	200.0	G	A	.	0/1	112	SYNONYMOUS_CODING	LOW	None	0.21046	0.21050	0.22901				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs2547069 dbSNP Clinvar	9075584	200.0	T	A	.	0/1	87	SYNONYMOUS_CODING	LOW	None	0.21046	0.21050	0.22741				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	.	9074813	200.0	C	T	.	0/1	79	SYNONYMOUS_CODING	LOW	None							None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs7254970 dbSNP Clinvar	9072296	200.0	G	T	.	0/1	140	SYNONYMOUS_CODING	LOW	None	0.16853	0.16850	0.25344				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs771724187 dbSNP Clinvar	9069284	200.0	G	A	.	0/1	106	SYNONYMOUS_CODING	LOW	None							None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs2252675 dbSNP Clinvar	9063935	200.0	G	A	.	0/1	133	SYNONYMOUS_CODING	LOW	None	0.21026	0.21030	0.22475				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs1820099 dbSNP Clinvar	9060812	200.0	T	C	.	1/1	113	SYNONYMOUS_CODING	LOW	None	0.85743	0.85740	0.11789				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs2216663 dbSNP Clinvar	9060656	200.0	C	T	.	0/1	185	SYNONYMOUS_CODING	LOW	None	0.20967	0.20970	0.22677				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs12972088 dbSNP Clinvar	9060125	200.0	G	A	.	0/1	245	SYNONYMOUS_CODING	LOW	None	0.21026	0.21030	0.30851				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs12984130 dbSNP Clinvar	9057704	200.0	G	T	.	0/1	115	SYNONYMOUS_CODING	LOW	None	0.20887	0.20890	0.30381				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs918535 dbSNP Clinvar	9056930	200.0	T	G	.	0/1	109	SYNONYMOUS_CODING	LOW	None	0.24321	0.24320	0.30999				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs11670328 dbSNP Clinvar	9049726	200.0	G	A	.	0/1	185	SYNONYMOUS_CODING	LOW	None	0.24900	0.24900	0.27535				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs10425044 dbSNP Clinvar	9049396	200.0	C	G	.	0/1	165	SYNONYMOUS_CODING	LOW	None	0.18750	0.18750	0.25946				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs11883220 dbSNP Clinvar	9049339	200.0	C	G	.	0/1	131	SYNONYMOUS_CODING	LOW	None	0.00080	0.39580	0.43097				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs10415818 dbSNP Clinvar	9047305	200.0	G	A	.	0/1	129	SYNONYMOUS_CODING	LOW	None	0.18331	0.18330	0.25987				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs12462963 dbSNP Clinvar	9014569	200.0	A	G	.	0/1	71	SYNONYMOUS_CODING	LOW	None	0.32308	0.32310	0.25629				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs12459127 dbSNP Clinvar	9014551	200.0	T	C	.	0/1	70	SYNONYMOUS_CODING	LOW	None	0.31390	0.31390	0.29467				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs4804375 dbSNP Clinvar	9005719	200.0	A	G	.	1/1	144	SYNONYMOUS_CODING	LOW	None	0.73323	0.73320	0.25803				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs4804091 dbSNP Clinvar	9005674	200.0	G	A	.	0/1	175	SYNONYMOUS_CODING	LOW	None	0.22045	0.22040	0.26490				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs12985778 dbSNP Clinvar	9001835	200.0	G	A	.	1/1	109	SYNONYMOUS_CODING	LOW	None	0.59844	0.59840	0.35375				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	breast1 1	19	rs11085765 dbSNP Clinvar	8999453	200.0	C	T	.	1/1	109	SYNONYMOUS_CODING	LOW	None	0.59844	0.59840	0.41663				None None	None None None None	MUC16\|0.001379523\|93.47%
NF1
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	breast1 1	17	rs1801052 dbSNP Clinvar	29508775	200.0	G	A	.	1/1	346	SYNONYMOUS_CODING	LOW	None	0.51178	0.51180	0.42560				None None	None None None None	NF1\|0.993936903\|0.88%
PALLD
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	breast1 1	4	rs7673220 dbSNP Clinvar	169433333	200.0	C	T	.	1/1	185	SYNONYMOUS_CODING	LOW	None	0.23962	0.23960	0.30201				None None	None None None None	DDX60L\|0.002204005\|90.41%,PALLD\|0.242896588\|32.2%
	View	breast1 1	4	rs1059444 dbSNP Clinvar	169835134	200.0	A	G	.	0/1	235	SYNONYMOUS_CODING	LOW	None	0.10543	0.10540	0.14101				None None	None None None None	PALLD\|0.242896588\|32.2%,CBR4\|0.148986414\|43.14%
	View	breast1 1	4	rs61051061 dbSNP Clinvar	169432673	200.0	C	T	.	1/.	96	SYNONYMOUS_CODING	LOW	None	0.18490	0.18490	0.21590				None None	None None None None	DDX60L\|0.002204005\|90.41%,PALLD\|0.242896588\|32.2%
	View	breast1 1	4	rs1806729 dbSNP Clinvar	169432841	200.0	G	A	.	1/1	156	SYNONYMOUS_CODING	LOW	None	0.23602	0.23600	0.29440				None None	None None None None	DDX60L\|0.002204005\|90.41%,PALLD\|0.242896588\|32.2%
PCGF2
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	breast1 1	17	rs1138349 dbSNP Clinvar	36894839	200.0	G	A	.	0/1	124	SYNONYMOUS_CODING	LOW	None	0.43371	0.43370	0.47670				None None	None None None None	PCGF2\|0.190649271\|37.74%
PMS2
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	breast1 1	7	rs1805319 dbSNP Clinvar	6036980	200.0	G	C	.	1/1	202	SYNONYMOUS_CODING	LOW	None	0.83127	0.83130	0.17623				None None	None None None None	PMS2\|0.061509857\|59.43%
PTGFR
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	breast1 1	1	rs35227129 dbSNP Clinvar	78958491	200.0	C	T	.	0/1	158	SYNONYMOUS_CODING	LOW	None	0.03135	0.03135	0.06951				None None	None None None None	PTGFR\|0.321616369\|26.04%
RET
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	breast1 1	10	rs1800858 dbSNP Clinvar	43595968	200.0	A	G	.	1/1	121	SYNONYMOUS_CODING	LOW	None	0.75359	0.75360	0.19084				None None	None None None None	RET\|0.976360102\|1.58%
	View	breast1 1	10	rs1800861 dbSNP Clinvar	43613843	200.0	G	T	.	1/1	110	SYNONYMOUS_CODING	LOW	None	0.71246	0.71250	0.19737				None None	None None None None	RET\|0.976360102\|1.58%
	View	breast1 1	10	rs1800863 dbSNP Clinvar	43615633	200.0	C	G	.	0/1	126	SYNONYMOUS_CODING	LOW	None	0.17252	0.17250	0.16095				None None	None None None None	RET\|0.976360102\|1.58%
	View	breast1 1	10	rs1800860 dbSNP Clinvar	43606687	200.0	A	G	.	0/1	133	SYNONYMOUS_CODING	LOW	None	0.77516	0.77520	0.25142				None None	None None None None	RET\|0.976360102\|1.58%
SMARCA4
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	breast1 1	19	rs7275 dbSNP Clinvar	11170839	200.0	T	C	.	0/1	68	SYNONYMOUS_CODING	LOW	None	0.24980	0.24980	0.25954				None None	None None None None	SMARCA4\|0.921265936\|2.95%
SYNE1
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	breast1 1	6	rs2256135 dbSNP Clinvar	152464839	200.0	A	G	.	0/1	228	SYNONYMOUS_CODING	LOW	None	0.68970	0.68970	0.37652				None None	None None None None	SYNE1\|0.298400892\|27.77%
	View	breast1 1	6	rs117020413 dbSNP Clinvar	152697675	200.0	G	T	.	0/1	148	SYNONYMOUS_CODING	LOW	None	0.00679	0.00679	0.00946				None None	None None None None	SYNE1\|0.298400892\|27.77%
	View	breast1 1	6	rs910415 dbSNP Clinvar	152473181	200.0	T	C	.	0/1	132	SYNONYMOUS_CODING	LOW	None	0.03654	0.03654	0.04952				None None	None None None None	SYNE1\|0.298400892\|27.77%
ZBED4
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	breast1 1	22	rs910797 dbSNP Clinvar	50277883	200.0	A	G	.	1/1	195	SYNONYMOUS_CODING	LOW	None	0.93530	0.93530	0.07520				None None	None None None None	ZBED4\|0.009759026\|81.01%
	View	breast1 1	22	rs910798 dbSNP Clinvar	50278438	200.0	A	G	.	1/1	123	SYNONYMOUS_CODING	LOW	None	0.93431	0.93430	0.07512				None None	None None None None	ZBED4\|0.009759026\|81.01%
	View	breast1 1	22	rs910796 dbSNP Clinvar	50277835	200.0	T	C	.	1/1	180	SYNONYMOUS_CODING	LOW	None	0.93530	0.93530	0.07520				None None	None None None None	ZBED4\|0.009759026\|81.01%