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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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+ Genes 23

Genes:
AIP, ARMC5, C6orf57, CASR, CDKN1A, GNA11, H3F3A, KIF1B, KMT2D, MDH2, MEN1, MERTK, MET, NF1, PDE11A, PDE8B, PRKAR1A, RET, SDHA, SDHAF1, SDHB, SDHD, TP53,

+ Genes associated with diseases 20

Genes at Omim

AIP, ARMC5, CASR, GNA11, KIF1B, KMT2D, MDH2, MEN1, MERTK, MET, NF1, PDE11A, PDE8B, PRKAR1A, RET, SDHA, SDHAF1, SDHB, SDHD, TP53,

AIP	Pituitary adenoma 1, multiple types, 102200 (3) Pituitary adenoma predisposition, 102200 (3)
ARMC5	ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
CASR	Hyperparathyroidism, neonatal, 239200 (3) Hypocalcemia, autosomal dominant, 601198 (3) Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3) Hypocalciuric hypercalcemia, type I, 145980 (3) {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
GNA11	Hypocalcemia, autosomal dominant 2, 615361 (3) Hypocalciuric hypercalcemia, type II, 145981 (3)
KIF1B	{Neuroblastoma, susceptibility to, 1}, 256700 (3) Pheochromocytoma, 171300 (3) ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
KMT2D	Kabuki syndrome 1, 147920 (3)
MDH2	Epileptic encephalopathy, early infantile, 51, 617339 (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)
MERTK	Retinitis pigmentosa 38, 613862 (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)
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)
PDE11A	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PDE8B	Pigmented nodular adrenocortical disease, primary, 3, 614190 (3) Striatal degeneration, autosomal dominant, 609161 (3)
PRKAR1A	Adrenocortical tumor, somatic, (3) Carney complex, type 1, 160980 (3) Acrodysostosis 1, with or without hormone resistance, 101800 (3) Myxoma, intracardiac, 255960 (3) Pigmented nodular adrenocortical disease, primary, 1, 610489 (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)
SDHA	Cardiomyopathy, dilated, 1GG, 613642 (3) Leigh syndrome, 256000 (3) Mitochondrial respiratory chain complex II deficiency, 252011 (3) Paragangliomas 5, 614165 (3)
SDHAF1	Mitochondrial complex II deficiency, 252011 (3)
SDHB	Gastrointestinal stromal tumor, 606764 (3) Paraganglioma and gastric stromal sarcoma, 606864 (3) Paragangliomas 4, 115310 (3) Pheochromocytoma, 171300 (3)
SDHD	Mitochondrial complex II deficiency, 252011 (3) Paraganglioma and gastric stromal sarcoma, 606864 (3) Paragangliomas 1, with or without deafness, 168000 (3) Pheochromocytoma, 171300 (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)

Genes at Clinical Genomics Database

AIP, ARMC5, CASR, GNA11, KIF1B, KMT2D, MEN1, MERTK, MET, NF1, PDE11A, PDE8B, PRKAR1A, RET, SDHA, SDHAF1, SDHB, SDHD, TP53,

AIP	Pituitary adenoma, familial isolated
ARMC5	ACTH-independent macronodular adrenal hyperplasia 2
CASR	Hyperparathyroidism, neonatal Hypocalcemia, autosomal dominant Hypocalcemia, autosomal dominant, with Bartter syndrome Hypocalciuric hypercalcemia, type I Hyperparathyroidism, neonatal severe primary Hypoparathyroidism, familial isolated Hyperparathyroidism, familial primary
GNA11	Hypocalcemia 2, autosomal dominant Hypocalciuric hypercalcemia, autosomal dominant
KIF1B	Neuroblastoma, susceptibility to Pheochromocytoma
KMT2D	Kabuki syndrome 1
MEN1	Multiple endocrine neoplasia type I Hyperparathyroidism, familial primary
MERTK	Retinitis pigmentosa 38
MET	Renal cell carcinoma, papillary Deafness, autosomal recessive 97
NF1	Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome Watson syndrome
PDE11A	Pigmented nodular adrenocortical disease, primary, 2
PDE8B	Pigmented nodular adrenocortical disease, primary, 3
PRKAR1A	Pigmented nodular adrenocortical disease, primary, 1 Carney complex, type 1 Myxoma, intracardiac Acrodysostosis 1, with or without hormone resistance
RET	Central hypoventilation syndrome, congenital Multiple endocrine neoplasia, type IIA Multiple endocrine neoplasia IIB Medullary thyroid carcinoma, familial Pheochromocytoma Hirschsprung disease, susceptibility to 1
SDHA	Paragangliomas 5 Gastrointestinal stromal tumors Cardiomyopathy, dilated, 1GG Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SDHAF1	Mitochondrial complex II deficiency
SDHB	Cowden-like syndrome Paraganglioma and gastric stromal sarcoma Gastrointestinal stromal tumor Pheochromocytoma Paragangliomas 4
SDHD	Cowden syndrome 3 Paraganglioma and gastric stromal sarcoma Pheochromocytoma Paragangliomas 1 Carcinoid tumors, intestinal
TP53	Li-Fraumeni syndrome Choroid plexus papilloma Ependymoma, intracranial Osteogenic sarcoma Breast cancer, familial Hepatoblastoma Non-Hodgkin lymphoma Adrenocortical carcinoma Colorectal cancer

Genes at HGMD

Summary

Number of Variants: 256
Number of Genes: 23

Export to: CSV

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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	5840_s17	11	rs4930199 dbSNP Clinvar	67258391	47717.01	A	G	PASS	1/1	2096	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	5840_s17	11	rs641081 dbSNP Clinvar	67257823	42213.01	C	A	PASS	1/1	1837	NON_SYNONYMOUS_CODING	MODERATE	None	0.84545	0.84540	0.16574	1.00	0.00	-1.18	None None	None None None None	AIP\|0.191995289\|37.6%
ARMC5
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	5840_s17	16	rs11150624 dbSNP Clinvar	31476458	18626.01	C	T	PASS	0/1	2038	None	None	None	0.30411	0.30410	0.31951		0.01	-0.22	None None	None None None None	None
C6orf57
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	5840_s17	6	rs1048886 dbSNP Clinvar	71289189	10283.01	A	G	PASS	1/1	497	NON_SYNONYMOUS_CODING	MODERATE	None	0.19808	0.19810	0.21429	0.01	0.19	1.61	None None	None None None None	SDHAF4\|0.048448496\|63.15%
CASR
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	5840_s17	3	rs2036400 dbSNP Clinvar	122003045	39116.01	G	C	PASS	1/1	1700	SYNONYMOUS_CODING	LOW	None	0.97284	0.97280	0.02799				None None	None None None None	CASR\|0.90333935\|3.37%
	View	5840_s17	3	rs1801725 dbSNP Clinvar	122003757	14782.01	G	T	PASS	0/1	1591	NON_SYNONYMOUS_CODING	MODERATE	None	0.09425	0.09425	0.11156	0.23	0.04	1.57	None None	None None None None	CASR\|0.90333935\|3.37%
	View	5840_s17	3	rs1801726 dbSNP Clinvar	122003832	32591.01	G	C	PASS	1/1	1405	NON_SYNONYMOUS_CODING	MODERATE	None	0.92412	0.92410	0.08219	1.00	0.00	-0.62	None None	None None None None	CASR\|0.90333935\|3.37%
CDKN1A
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	5840_s17	6	rs2395655 dbSNP Clinvar	36645696	11963.01	A	G	PASS	0/1	1282	NON_SYNONYMOUS_CODING	MODERATE	None	0.52756	0.52760		0.83	0.00		None None	None None None None	None
GNA11
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	5840_s17	19	rs4900 dbSNP Clinvar	3119239	10428.01	C	T	PASS	0/1	1077	SYNONYMOUS_CODING	LOW	None	0.34884	0.34880	0.38221				None None	None None None None	None
H3F3A
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	5840_s17	1	rs749423281 dbSNP Clinvar	226259113	449.01	C	G	LowVariantFreq	0/1	598	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.01	6.24	None None	None None None None	H3F3A\|0.999921271\|0.17%
KIF1B
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	5840_s17	1	rs12125492 dbSNP Clinvar	10421878	27584.01	A	G	PASS	1/1	1284	SYNONYMOUS_CODING	LOW	None	0.08027	0.08027	0.09034				None None	None None None None	None
KMT2D
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	5840_s17	12	rs10747559 dbSNP Clinvar	49434074	10522.01	C	A	PASS	0/1	1183	SYNONYMOUS_CODING	LOW	None	0.43550	0.43550	0.41650				None None	None None None None	KMT2D\|0.463434006\|17.49%
MDH2
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	5840_s17	7	rs6720 dbSNP Clinvar	75677504	16617.01	C	T	PASS	0/1	1552	NON_SYNONYMOUS_CODING	MODERATE	None	0.52217	0.52220	0.39149	0.09	0.00	2.15	None None	None None None None	None
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	5840_s17	11	rs2959656 dbSNP Clinvar	64572018	35297.01	T	C	PASS	1/1	1522	NON_SYNONYMOUS_CODING	MODERATE	None	0.83447	0.83450	0.09157	0.76	0.00	-0.87	None None	None None None None	MEN1\|0.661753232\|9.63%
	View	5840_s17	11	rs540012 dbSNP Clinvar	64572557	33349.01	A	G	PASS	1/1	1464	SYNONYMOUS_CODING	LOW	None	0.97604	0.97600	0.02385				None None	None None None None	MEN1\|0.661753232\|9.63%
MERTK
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	5840_s17	2	rs2230515 dbSNP Clinvar	112755001	21760.01	A	G	PASS	1/1	985	NON_SYNONYMOUS_CODING	MODERATE	None	0.56150	0.56150	0.36606	0.51	0.00	-1.81	None None	None None None None	MERTK\|0.05411075\|61.44%
	View	5840_s17	2	rs1131244 dbSNP Clinvar	112765973	34089.01	A	G	PASS	1/1	1530	SYNONYMOUS_CODING	LOW	None	0.51518	0.51520	0.41219				None None	None None None None	MERTK\|0.05411075\|61.44%
	View	5840_s17	2	rs13027171 dbSNP Clinvar	112686988	6928.01	G	A	PASS	0/1	732	NON_SYNONYMOUS_CODING	MODERATE	None	0.16813	0.16810	0.22190	0.76	0.00	-1.22	None None	None None None None	MERTK\|0.05411075\|61.44%
	View	5840_s17	2	rs7604639 dbSNP Clinvar	112751928	22828.01	G	A	PASS	1/1	1025	NON_SYNONYMOUS_CODING	MODERATE	None	0.56150	0.56150	0.36599	1.00	0.00	-1.26	None None	None None None None	MERTK\|0.05411075\|61.44%
	View	5840_s17	2	rs3811634 dbSNP Clinvar	112754943	8831.01	C	T	PASS	0/1	970	SYNONYMOUS_CODING	LOW	None	0.19050	0.19050	0.24965			1.86	None None	None None None None	MERTK\|0.05411075\|61.44%
MET
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	5840_s17	7	rs41736 dbSNP Clinvar	116435768	8983.01	C	T	PASS	0/1	979	SYNONYMOUS_CODING	LOW	None	0.35224	0.35220	0.32350				None None	None None None None	MET\|0.987477755\|1.18%
	View	5840_s17	7	rs35775721 dbSNP Clinvar	116339672	12397.01	C	T	PASS	0/1	1250	SYNONYMOUS_CODING	LOW	None	0.08846	0.08846	0.06966				None None	None None None None	MET\|0.987477755\|1.18%
	View	5840_s17	7	rs41737 dbSNP Clinvar	116436097	12823.01	G	A	PASS	0/1	1422	SYNONYMOUS_CODING	LOW	None	0.35463	0.35460	0.32105				None None	None None None None	MET\|0.987477755\|1.18%
	View	5840_s17	7	rs2023748 dbSNP Clinvar	116436022	13855.01	G	A	PASS	0/1	1463	SYNONYMOUS_CODING	LOW	None	0.35383	0.35380	0.32250				None None	None None None None	MET\|0.987477755\|1.18%
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	5840_s17	17	rs2285892 dbSNP Clinvar	29553485	5261.01	G	A	PASS	0/1	691	SYNONYMOUS_CODING	LOW	None	0.49681	0.49680	0.41635				None None	None None None None	NF1\|0.993936903\|0.88%
	View	5840_s17	17	rs1801052 dbSNP Clinvar	29508775	6500.01	G	A	PASS	0/1	630	SYNONYMOUS_CODING	LOW	None	0.51178	0.51180	0.42560				None None	None None None None	NF1\|0.993936903\|0.88%
PDE11A
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	5840_s17	2	rs75672043 dbSNP Clinvar	178969039	5711.01	G	A	PASS	0/1	643	None	None	None	0.06270	0.06270	0.09756	0.10	0.28	0.29	None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs6433711 dbSNP Clinvar	178936614	37069.01	C	T	PASS	1/1	1607	NON_SYNONYMOUS_CODING	MODERATE	None	0.99022	0.99020	0.00738	1.00	0.00	2.29	None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs6720891 dbSNP Clinvar	178682603	11602.01	T	C	PASS	0/1	1444	SYNONYMOUS_CODING	LOW	None	0.41813	0.41810	0.42319				None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs3830637,rs397723704 dbSNP Clinvar	178494173	33817.0	G	GGGA	PASS	0/1	1729	CODON_INSERTION	MODERATE	None	0.58766	0.58770	0.40711				None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs1435573 dbSNP Clinvar	178936373	31090.01	T	G	PASS	1/1	1363	SYNONYMOUS_CODING	LOW	None	0.88738	0.88740	0.16615				None None	None None None None	PDE11A\|0.740114937\|7.36%
PDE8B
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	5840_s17	5	rs186753 dbSNP Clinvar	76704849	20965.01	T	C	PASS	1/1	937	SYNONYMOUS_CODING	LOW	None							None None	None None None None	PDE8B\|0.24086884\|32.36%
	View	5840_s17	5	rs335614 dbSNP Clinvar	76708987	32007.01	A	G	PASS	1/1	1421	SYNONYMOUS_CODING	LOW	None	0.76518	0.76520	0.30486				None None	None None None None	PDE8B\|0.24086884\|32.36%
PRKAR1A
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	5840_s17	17	rs3841514 dbSNP Clinvar	66519857	22225.0	C	CT	PASS	0/1	1694	None	None	None	0.22524	0.22520	0.22679				None None	None None None None	PRKAR1A\|0.772442461\|6.49%
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	5840_s17	10	rs1800861 dbSNP Clinvar	43613843	41250.01	G	T	PASS	1/1	1838	SYNONYMOUS_CODING	LOW	None	0.71246	0.71250	0.19737				None None	None None None None	None
	View	5840_s17	10	rs1799939 dbSNP Clinvar	43610119	15708.01	G	A	PASS	0/1	1689	NON_SYNONYMOUS_CODING	MODERATE	None	0.16913	0.16910	0.15700	0.74	0.01	0.96	None None	None None None None	None
	View	5840_s17	10	rs1800860 dbSNP Clinvar	43606687	33032.01	A	G	PASS	1/1	1480	SYNONYMOUS_CODING	LOW	None	0.77516	0.77520	0.25142				None None	None None None None	None
	View	5840_s17	10	rs1800858 dbSNP Clinvar	43595968	24867.01	A	G	PASS	1/1	1102	SYNONYMOUS_CODING	LOW	None	0.75359	0.75360	0.19084				None None	None None None None	None
	View	5840_s17	10	rs1800863 dbSNP Clinvar	43615633	12239.01	C	G	PASS	0/1	1227	SYNONYMOUS_CODING	LOW	None	0.17252	0.17250	0.16095				None None	None None None None	None
SDHA
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	5840_s17	5	rs13070 dbSNP Clinvar	251541	12713.01	A	G	PASS	0/1	1526	SYNONYMOUS_CODING	LOW	None	0.24840	0.24840	0.26957				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs1042446 dbSNP Clinvar	256514	1691.01	G	C	LowVariantFreq	0/1	1594	SYNONYMOUS_CODING	LOW	None							None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs6962 dbSNP Clinvar	256509	12426.01	G	A	PASS	0/1	1577	NON_SYNONYMOUS_CODING	MODERATE	None	0.17532	0.17530	0.19645	0.55	0.02	0.91	None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs6961 dbSNP Clinvar	256472	14904.01	G	A	PASS	0/1	1409	SYNONYMOUS_CODING	LOW	None	0.33526	0.33530	0.27826				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs6960 dbSNP Clinvar	254599	9789.01	A	T	PASS	0/1	1513	NON_SYNONYMOUS_CODING	MODERATE	None			0.09269	0.31	0.01	0.50	None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs6555055 dbSNP Clinvar	226160	10181.01	A	C	PASS	0/1	1115	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.24740	0.24740	0.27095				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs1041949 dbSNP Clinvar	233734	7334.01	C	G	PASS	0/1	861	SYNONYMOUS_CODING	LOW	None	0.25779	0.25780	0.28241				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs2115272 dbSNP Clinvar	228362	6234.01	T	C	PASS	0/1	657	SYNONYMOUS_CODING	LOW	None	0.24740	0.24740	0.27164				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs1126417 dbSNP Clinvar	231111	8055.01	T	C	PASS	0/1	940	SYNONYMOUS_CODING	LOW	None	0.65336	0.65340	0.23131				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs1139424 dbSNP Clinvar	224633	8712.01	A	G	PASS	0/1	851	SYNONYMOUS_CODING	LOW	None	0.24002	0.24000	0.25785				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs10039029,rs1139449 dbSNP Clinvar	251469	10643.01	G	A	PASS	0/1	1567	SYNONYMOUS_CODING	LOW	None	0.24840	0.24840					None None	None None None None	SDHA\|0.110561052\|49.09%
SDHAF1
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	5840_s17	19	rs7249826 dbSNP Clinvar	36486445	34766.01	G	C	PASS	1/1	1520	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000		0.54	0.00	-1.00	None None	None None None None	SDHAF1\|0.020005696\|74.19%
SDHB
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	5840_s17	1	rs2746462 dbSNP Clinvar	17380497	36510.01	G	T	PASS	1/1	1623	SYNONYMOUS_CODING	LOW	None	0.95707	0.95710	0.04853				None None	None None None None	SDHB\|0.616900215\|11.22%
SDHD
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	5840_s17	11	rs592626 dbSNP Clinvar	111963860	7453.01	A	G	PASS	1/1	321	None	None	None	0.94549	0.94550		0.34	0.00	-0.35	None None	None None None None	SDHD\|0.174827429\|39.67%
TP53
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	5840_s17	17	rs1042522 dbSNP Clinvar	7579472	23156.01	G	C	PASS	0/1	2347	NON_SYNONYMOUS_CODING	MODERATE	None	0.54293	0.54290	0.36996	0.57	0.05	-0.42	None None	None None None None	TP53\|0.999869342\|0.2%
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	5840_s17	2	rs112052828 dbSNP Clinvar	178492029	2678.01	G	T	PASS	0/1	351	None	None	None	0.07708	0.07708					None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs113684919 dbSNP Clinvar	178492301	8740.01	C	T	PASS	0/1	1005	None	None	None	0.07588	0.07588					None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs13027895 dbSNP Clinvar	178492403	5798.01	G	T	PASS	0/1	512	None	None	None	0.55791	0.55790					None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs6730406 dbSNP Clinvar	178492722	29511.01	C	T	PASS	1/1	1313	None	None	None	0.73662	0.73660					None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs13010396 dbSNP Clinvar	178492934	28438.01	T	C	PASS	1/1	1253	None	None	None	0.64317	0.64320					None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs13034886 dbSNP Clinvar	178493301	22378.01	G	T	PASS	1/1	982	None	None	None	0.65974	0.65970					None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs6705405 dbSNP Clinvar	178493713	22895.01	A	G	PASS	1/1	1009	None	None	None	0.66014	0.66010					None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	3	rs1681669 dbSNP Clinvar	10192672	11894.01	G	A	PASS	1/1	519	None	None	None	0.58467	0.58470					None None	None None None None	None
	View	5840_s17	2	rs6734528 dbSNP Clinvar	178493731	11079.01	G	A	PASS	0/1	1092	None	None	None	0.58686	0.58690					None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs6734426 dbSNP Clinvar	178493770	28753.01	C	T	PASS	1/1	1239	None	None	None	0.69569	0.69570					None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs6734683 dbSNP Clinvar	178494012	41128.01	C	G	PASS	1/1	1783	None	None	None	0.66014	0.66010					None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs13025391 dbSNP Clinvar	178528703	33998.01	C	T	PASS	1/1	1489	None	None	None	0.83207	0.83210	0.20683				None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs6433687 dbSNP Clinvar	178534324	21989.01	A	G	PASS	1/1	984	None	None	None	0.82947	0.82950	0.21021				None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs6433698 dbSNP Clinvar	178681534	10248.01	C	T	PASS	0/1	1110	None	None	None	0.41813	0.41810	0.42480				None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs3841879 dbSNP Clinvar	178682558	42519.0	A	AT...	PASS	0/1	1277	None	None	None	0.41753	0.41750	0.40501				None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs3821010 dbSNP Clinvar	178682655	12315.01	A	G	PASS	0/1	1423	None	None	None	0.41813	0.41810	0.42464				None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	5	rs200769995 dbSNP Clinvar	256549	1319.01	G	A	LowVariantFreq	0/1	1605	None	None	None							None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	2	rs13386827 dbSNP Clinvar	178684921	6607.01	G	A	PASS	0/1	919	None	None	None	0.28534	0.28530	0.30311				None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	3	rs1642741 dbSNP Clinvar	10192762	13550.01	T	C	PASS	1/1	595	None	None	None	0.88139	0.88140					None None	None None None None	None
	View	5840_s17	3	rs779805 dbSNP Clinvar	10183337	24259.01	G	A	PASS	1/1	1032	None	None	None	0.54333	0.54330					None None	None None None None	None
	View	5840_s17	3	rs1642742 dbSNP Clinvar	10191943	25666.01	G	A	PASS	1/1	1125	None	None	None	0.55711	0.55710					None None	None None None None	None
	View	5840_s17	3	rs1681668 dbSNP Clinvar	10192709	11148.01	C	T	PASS	1/1	474	None	None	None	0.55671	0.55670					None None	None None None None	None
	View	5840_s17	3	rs1136249 dbSNP Clinvar	10193683	15856.01	T	G	PASS	1/1	676	None	None	None	0.54892	0.54890					None None	None None None None	None
	View	5840_s17	3	rs757106274 dbSNP Clinvar	10193744	3809.0	CAAA	C,CAA	LowVariantFreq;R8	1/2	395	None	None	None							None None	None None None None	None
	View	5840_s17	3	.	10194053	1411.97	CA	C	R8	0/1	519	None	None	None							None None	None None None None	None
	View	5840_s17	3	rs801913 dbSNP Clinvar	10194624	21884.01	G	C	PASS	1/1	989	None	None	None	0.88998	0.89000					None None	None None None None	None
	View	5840_s17	3	.	10194961	655.97	C	CA	LowVariantFreq;R8	0/1	589	None	None	None							None None	None None None None	None
	View	5840_s17	5	rs780738058 dbSNP Clinvar	256573	1001.01	A	G	LowVariantFreq	0/1	1627	None	None	None							None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	3	rs201632485 dbSNP Clinvar	10195293	30231.0	T	TG	PASS	1/1	822	None	None	None	0.97105	0.97100					None None	None None None None	None
	View	5840_s17	3	rs28412899 dbSNP Clinvar	10195294	337.01	T	G	LowVariantFreq	0/1	789	None	None	None							None None	None None None None	None
	View	5840_s17	3	rs149915954 dbSNP Clinvar	10195298	15386.01	T	G	PASS	1/1	774	None	None	None	0.66973	0.66970					None None	None None None None	None
	View	5840_s17	3	rs1678595 dbSNP Clinvar	10195303	16233.01	T	G	PASS	1/1	773	None	None	None	0.69888	0.69890					None None	None None None None	None
	View	5840_s17	3	rs574964096 dbSNP Clinvar	52579866	5354.0	A	AT	R8	0/1	675	None	None	None							None None	None None None None	SMIM4\|0.169808541\|40.34%,PBRM1\|0.664761336\|9.54%
	View	5840_s17	3	rs376663529 dbSNP Clinvar	52676065	4612.0	CA	C	R8	0/1	1016	None	None	None							None None	None None None None	PBRM1\|0.664761336\|9.54%
	View	5840_s17	3	rs10933 dbSNP Clinvar	52719816	32970.01	C	T	PASS	1/1	1520	None	None	None	0.43570	0.43570					None None	None None None None	PBRM1\|0.664761336\|9.54%,GNL3\|0.156229255\|42.12%
	View	5840_s17	3	rs9869985 dbSNP Clinvar	121976253	32028.01	G	A	PASS	1/1	1406	None	None	None	0.92193	0.92190	0.08765				None None	None None None None	CASR\|0.90333935\|3.37%
	View	5840_s17	3	rs4677948 dbSNP Clinvar	122004098	27424.01	A	T	PASS	1/1	1184	None	None	None	0.92013	0.92010					None None	None None None None	CASR\|0.90333935\|3.37%
	View	5840_s17	3	rs33974189,rs386397785,rs886057832 dbSNP Clinvar	122004218	11545.0	T	TA	PASS	0/1	1296	None	None	None	0.35164	0.35160					None None	None None None None	CASR\|0.90333935\|3.37%
	View	5840_s17	3	rs6438718 dbSNP Clinvar	122004612	31015.01	C	G	PASS	1/1	1355	None	None	None	0.96865	0.96870					None None	None None None None	CASR\|0.90333935\|3.37%
	View	5840_s17	3	rs9740 dbSNP Clinvar	122005053	16361.01	A	G	PASS	0/1	1777	None	None	None	0.18151	0.18150					None None	None None None None	CASR\|0.90333935\|3.37%
	View	5840_s17	3	rs10190 dbSNP Clinvar	122005236	20705.01	T	C	PASS	1/1	911	None	None	None	0.53315	0.53310					None None	None None None None	CASR\|0.90333935\|3.37%
	View	5840_s17	5	rs2303741 dbSNP Clinvar	218356	15729.01	T	C	PASS	0/1	1658	None	None	None	0.24760	0.24760					None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs35805262 dbSNP Clinvar	218381	18991.0	T	TC	PASS	0/1	1670	None	None	None	0.24701	0.24700					None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs3835068,rs886038538 dbSNP Clinvar	228278	7325.0	CT	C	R8	0/1	536	None	None	None	0.00120	0.23460					None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs2288461 dbSNP Clinvar	230980	8531.01	A	G	PASS	0/1	992	None	None	None	0.85843	0.85840	0.08742				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs2288459 dbSNP Clinvar	231143	6723.01	T	C	PASS	0/1	790	None	None	None	0.24740	0.24740	0.27095				None None	None None None None	SDHA\|0.110561052\|49.09%

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+ Genes 23

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Genes at Omim

Genes at Clinical Genomics Database

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Summary

AIP

ARMC5

C6orf57

CASR

CDKN1A

GNA11

H3F3A

KIF1B

KMT2D

MDH2

MEN1

MERTK

MET

NF1

PDE11A

PDE8B

PRKAR1A

RET

SDHA

SDHAF1

SDHB

SDHD

TP53

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