Variant report for hu2D6140

Data source: CGI sample GS01173-DNA_F06 from PGP sample 64191565
This report: evidence.pgp-hms.org/genomes?aac2ed1c6c9fe984d1d2fc7287541e816896831a
Person ID: hu2D6140
public profile: my.pgp-hms.org/profile/hu2D6140
Download: source data, dbSNP and nsSNP report (128 MB)
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Show likely pathogenic and rare (<2.5%) pathogenic variants Show all

Row number	Variant	Clinical Importance	Evidence	Impact	Allele freq	Summary	Sufficient
1	APOE-C130R	High	Well-established	Well-established pathogenic Complex/Other, Heterozygous	0.135392	This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes).	1
2	COL9A3-R103W	Moderate	Likely	Likely pathogenic Dominant, Heterozygous	0.0480573	Carriers of this collagen variant are associated with having a significantly increased risk of lumbar disc disease (~11% total risk compared to a typical risk of 4%).	1
3	COL4A1-Q1334H	Low	Likely	Likely pathogenic Dominant, Homozygous	0.324689	This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.	1
4	rs5186	Low	Likely	Likely pathogenic Unknown, Heterozygous	0.214878	This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.	1
5	WFS1-R611H	Low	Uncertain	Uncertain not reviewed Recessive, Homozygous	0.400446	This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).	1
6	RNASEL-R462Q	Low	Uncertain	Uncertain pathogenic Complex/Other, Heterozygous	0.278026	Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.	1
7	TGIF1-P83Shift	Low	Uncertain	Uncertain pathogenic Complex/Other, Heterozygous	0.138889	Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.	1
8	TGFB1-R25P	Low	Uncertain	Uncertain pathogenic Complex/Other, Heterozygous	0.0488858	This variant in a growth factor gene is associated with variation in TGFB1 levels; this has been associated with various pathogenic and some protective effects, including: more hepatic fibrosis progression in hep C patients, lower risk of cleft palate, anticorrelation with longevity, higher risk of myocardial infarction and lower risk of hypertension.	1
9	H6PD-R453Q	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.308886	This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).	1
10	SP110-L425S	Low	Uncertain	Uncertain pathogenic Unknown, Homozygous	0.863357	This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.	1
11	DYX1C1-E417X	Low	Uncertain	Uncertain pathogenic Unknown, Heterozygous	0.20147	One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.	1
12	TP53-P72R	Low	Uncertain	Uncertain pathogenic Unknown, Homozygous	0.627743	This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x increased risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x decreased risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.	1
13	rs1544410	Low	Uncertain	Uncertain pharmacogenetic Unknown, Heterozygous	0.351562	rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon.	1
14	ABCC6-R1268Q	Low	Uncertain	Uncertain pharmacogenetic Unknown, Heterozygous	0.218907	This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.	1
15	FUT2-W154X	Moderate	Well-established	Well-established protective Recessive, Carrier (Heterozygous)	0.490519	This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.	1
16	PRNP-M129V	Low	Well-established	Well-established protective Complex/Other, Homozygous	0.339561	This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.	1
17	NPC1-H215R	Low	Likely	Likely protective Complex/Other, Homozygous	0.295687	This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).	1
18	KCNJ11-K23E	Low	Likely	Likely protective Unknown, Homozygous	0.738148	This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.	1
19	IL7R-T244I	Low	Likely	Likely protective Unknown, Heterozygous	0.210169	The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).	1
20	MTR-D919G	Low	Uncertain	Uncertain protective Complex/Other, Heterozygous	0.217234	This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption.	1
21	IRS2-G1057D	Low	Uncertain	Uncertain protective Unknown, Heterozygous	0.232615	a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003).	1
22	TYR-R402Q	Low	Well-established	Well-established benign Complex/Other, Heterozygous	0.204964	This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.	1
23	ARSA-N350S	Low	Well-established	Well-established benign Unknown, Heterozygous	0.183199	This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.	1
24	FBN2-S2580L	Low	Uncertain	Uncertain benign Dominant, Heterozygous	0.0779885	Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.	1
25	MLH1-I219V	Low	Uncertain	Uncertain benign Dominant, Heterozygous	0.239822	Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.	1
26	LOXL1-R141L	Low	Uncertain	Uncertain benign Complex/Other, Homozygous	0.255899	Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.	1
27	ALOX12B-P127S	Low	Uncertain	Uncertain benign Complex/Other, Heterozygous	0.0167317	This variant was found heterozygously in autosomal recessive congenital ichthyosis in two Turkish siblings, although the second mutation was not found. Later, Lesueur et al. observe that this variant has a 4% frequency in their North African controls and is likely just a rare SNP.	1
28	GAA-E689K	Low	Uncertain	Uncertain benign Complex/Other, Heterozygous	0.0301845	This is also known as the GAA*4 allozyme is frequent in the Asian population and appears to have somewhat reduced enzyme activity. Kroos et al. rule out pathogenic effect.	1
29	TYR-S192Y	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.270682	This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).	1
30	ENPP1-R774C	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0258412	Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly pathogenic effect.	1
31	APOB-Y1422C	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.999628	This position is almost certainly an error in the HG18 reference sequence.	1
32	VWF-G2705R	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0460123	Probably benign, seems to be considered an uncommon polymorphism.	1
33	TAS2R38-I296V	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.463376	This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.	1
34	PHYH-P29S	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.155326	Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.	1
35	PCSK9-G670E	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.888269	This variant is likely benign.	1
36	KRT85-R78H	Low	Uncertain	Uncertain benign Recessive, Carrier (Heterozygous)	0.042466	Presumed benign. Although this variant was implicated in causing ectodermal dysplasia in a recessive manner in two Pakistani families (one of which was large and consanguineous), GET-Evidence reports that the variant has been seen in 5 out of 114 random control chromosomes. This strongly contradicts a severe pathogenic effect.	1
37	PKP2-L366P	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.221231	This variant is a benign polymorphism.	1
38	RP1-N985Y	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.348671	Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.	1
39	TAS2R38-A49P	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.431121	This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.	1
40	SLC45A2-L374F	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.691764	Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.	1
41	GUCY2D-A52S	Low	Uncertain	Uncertain benign Recessive, Carrier (Heterozygous)	0.21016	One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.	1

Row number	Variant	Prioritization score	Allele freq	Num of articles	Zygosity and Prioritization Score Reasons	Sufficient

Exome coverage: 32833284 / 33212919 = 98.86%

Row number	Gene	Chromosome	Coverage	Missing	Length	Missing regions
1	AGRN	1	0.96660149885956	205	6138	955553-955574, 955586-955600, 955633-955644, 955653, 955658, 955663, 955668-955673, 983600-983745, 986833
2	GABRD	1	0.97130242825607	39	1359	1950863-1950884, 1950903-1950910, 1950921-1950929
3	ESPN	1	0.90799220272904	236	2565	6488325, 6488333, 6488378-6488392, 6488426-6488432, 6500413-6500419, 6500472, 6500476-6500477, 6500737-6500753, 6500757-6500758, 6500768, 6500778, 6500782, 6500837-6500868, 6501097-6501103, 6505726-6505738, 6505776-6505820, 6505849-6505866, 6505888-6505937, 6508702, 6511953-6511959, 6512127-6512133
4	PLEKHG5	1	0.96801505174036	102	3189	6533412, 6534103-6534133, 6534196-6534200, 6534221-6534224, 6534525-6534582, 6534603-6534605
5	KIF1B	1	0.99849425936382	8	5313	10332362, 10357014, 10425569, 10425582-10425586
6	TARDBP	1	0.95261044176707	59	1245	11076937-11076957, 11082322-11082345, 11082356-11082362, 11082396-11082402
7	CLCNKA	1	0.99612403100775	8	2064	16354391-16354397, 16360144
8	CLCNKB	1	0.98788759689922	25	2064	16378833-16378857
9	ATP13A2	1	0.9994355066328	2	3543	17322616-17322617
10	PINK1	1	0.99828178694158	3	1746	20960292-20960293, 20960296
11	HSPG2	1	0.99521857923497	63	13176	22263648-22263710
12	WNT4	1	0.91003787878788	95	1056	22447955-22447972, 22469339-22469415
13	FUCA1	1	0.99500356887937	7	1401	24194497-24194503
14	SEPN1	1	0.89028776978417	183	1668	26126722-26126904
15	KCNQ4	1	0.99712643678161	6	2088	41249773-41249774, 41284254, 41284257-41284258, 41284278
16	MPL	1	0.9979035639413	4	1908	43805648-43805651
17	STIL	1	0.99663822084303	13	3867	47716808-47716817, 47748091, 47765706, 47775955
18	ORC1	1	0.99303944315545	18	2586	52851524-52851541
19	DHCR24	1	0.99613152804642	6	1551	55352596-55352601
20	PCSK9	1	0.99470899470899	11	2079	55505553-55505563
21	ALG6	1	0.98627450980392	21	1530	63876976-63876989, 63885062, 63885080-63885084, 63894437
22	LEPR	1	0.99885648942253	4	3498	66083725-66083727, 66083730
23	CTH	1	0.9696223316913	37	1218	70883658-70883693, 70896054
24	ACADM	1	0.99921752738654	1	1278	76215129
25	GLMN	1	0.99271708683473	13	1785	92731986-92731990, 92731998-92732002, 92732021-92732023
26	ABCA4	1	0.9998534154207	1	6822	94548936
27	DPYD	1	0.97400909681611	80	3078	97847955-97847957, 97847980, 97847994-97848017, 98144677-98144684, 98144689, 98144694-98144732, 98144735-98144738
28	AGL	1	0.99934768427919	3	4599	100340787, 100357189, 100382260
29	DBT	1	0.99792960662526	3	1449	100701027-100701029
30	COL11A1	1	0.96774784680227	176	5457	103364222-103364269, 103364276-103364321, 103364497-103364500, 103427770, 103435775-103435828, 103470189, 103470206, 103478019, 103478023-103478025, 103488464-103488465, 103548502-103548503, 103548514-103548526
31	GSTM1	1	0.93911719939117	40	657	110233135-110233141, 110235885-110235917
32	HSD3B2	1	0.99374441465594	7	1119	119965218-119965224
33	NOTCH2	1	0.97316612729234	199	7416	120483199-120483212, 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120539955, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960, 120611964, 120612000-120612012
34	FLG	1	0.92729361562449	886	12186	152276279-152276302, 152276383-152276389, 152276456-152276462, 152276580-152276631, 152276647-152276674, 152276696-152276729, 152276758-152276789, 152277006-152277038, 152277052-152277058, 152277168, 152277312-152277348, 152277368-152277400, 152277517-152277557, 152277695-152277720, 152277881-152277887, 152278047-152278049, 152278431-152278437, 152278686-152278692, 152278811-152278817, 152278853-152278859, 152279016-152279022, 152279210-152279217, 152279403-152279409, 152279524-152279530, 152279848, 152279892, 152280170, 152280347, 152280372, 152280468-152280507, 152280556-152280576, 152280594-152280617, 152280733-152280762, 152280782, 152280788, 152280864, 152280900, 152281225-152281231, 152281304, 152281479, 152281520-152281537, 152281621-152281649, 152281872-152281902, 152281981-152281994, 152283427-152283473, 152284122-152284155, 152284167-152284213, 152284274-152284308, 152284546-152284552, 152284811-152284817, 152285099, 152285137, 152285367-152285373, 152285410-152285417, 152285730-152285756, 152285999-152286005, 152287866-152287869
35	CHRNB2	1	0.9946984758118	8	1509	154544372-154544379
36	LMNA	1	0.99823633156966	1	567	156105079
37	LMNA	1	0.99949874686717	1	1995	156105079
38	SEMA4A	1	0.99956255468066	1	2286	156146564
39	NTRK1	1	0.99874529485571	3	2391	156830727-156830728, 156830731
40	KCNJ10	1	0.98421052631579	18	1140	160012060-160012077
41	F5	1	0.99670411985019	22	6675	169497297-169497299, 169510325-169510331, 169510367, 169510380, 169510502, 169510515, 169510524, 169510634-169510640
42	DARS2	1	0.9953560371517	9	1938	173802514-173802521, 173802616
43	HMCN1	1	0.99804826117814	33	16908	185947066, 185947095-185947113, 186094842, 186094867-186094878
44	CDC73	1	0.9874686716792	20	1596	193110983, 193111044-193111051, 193111055-193111058, 193111061-193111067
45	CFH	1	0.9905303030303	35	3696	196648778, 196648803, 196658721-196658744, 196659279, 196706732-196706736, 196706772-196706774
46	CFHR1	1	0.99093655589124	9	993	196794743, 196797354-196797361
47	CFHR5	1	0.98713450292398	22	1710	196953183-196953185, 196953206, 196953215-196953221, 196967282-196967285, 196967298, 196967307, 196967319, 196967327, 196967338, 196967359, 196977617
48	ASPM	1	0.99453709028177	57	10434	197069622, 197069632-197069635, 197069645-197069658, 197069675, 197069678, 197069698-197069703, 197069706-197069707, 197069713-197069717, 197069727-197069734, 197070619-197070631, 197094046, 197113088
49	TNNT2	1	0.99211711711712	7	888	201333449-201333455
50	LAMB3	1	0.99943165672066	2	3519	209788616-209788617
51	USH2A	1	0.99910308155551	14	15609	215914764, 215916533, 215916540-215916543, 215916553-215916557, 215916566, 216496816-216496817
52	GJC2	1	0.95378787878788	61	1320	228345605-228345611, 228345843-228345855, 228345913-228345915, 228346041-228346044, 228346411-228346418, 228346422-228346424, 228346429-228346431, 228346472-228346491
53	AGT	1	0.99931412894376	1	1458	230841853
54	LYST	1	0.98605996843766	159	11406	235875357-235875358, 235875415, 235875420, 235875444, 235875449, 235875477, 235875481-235875497, 235896984, 235897825-235897836, 235897939-235897946, 235897956-235897959, 235907318, 235907338, 235907352-235907354, 235907360-235907363, 235907437-235907457, 235944170-235944171, 235944228-235944262, 235944288-235944296, 235950608, 235967842-235967843, 235967854, 235967857, 235967860, 235967914-235967920, 235967926-235967933, 235967938-235967946, 235967958-235967961
55	RYR2	1	0.99812130971551	28	14904	237656293-237656299, 237821244-237821254, 237824225, 237824228, 237881764-237881770, 237881776
56	FH	1	0.99934768427919	1	1533	241669404
57	NET1	10	0.99553322166387	8	1791	5471133-5471140
58	CUBN	10	0.99356144223694	70	10872	17085878, 17085901-17085942, 17085961-17085967, 17142030-17142049
59	PTF1A	10	0.99290780141844	7	987	23481911, 23481971-23481974, 23481980-23481981
60	MYO3A	10	0.99773242630385	11	4851	26377263, 26385315, 26385319, 26385580-26385587
61	PDSS1	10	0.99919871794872	1	1248	26994243
62	RET	10	0.98863976083707	38	3345	43572707-43572740, 43572760-43572763
63	ERCC6	10	0.99977688531905	1	4482	50740781
64	CHAT	10	0.93101913662661	155	2247	50822270, 50822273-50822422, 50822427-50822429, 50822433
65	PCDH15	10	0.99320767532688	40	5889	55719508, 55719514-55719516, 55719519-55719520, 55721545-55721553, 55826521-55826528, 55973733-55973739, 55973758, 56128935, 56129028, 56138656, 56138659, 56138662-56138666
66	PSAP	10	0.98984126984127	16	1575	73579575-73579590
67	VCL	10	0.99882525697504	4	3405	75874621-75874624
68	GLUD1	10	0.99582587954681	7	1677	88836362-88836368
69	PTEN	10	0.99917491749175	1	1212	89692985
70	ABCC2	10	0.997843898232	10	4638	101596007-101596016
71	HPS6	10	0.99914089347079	2	2328	103827019-103827020
72	SUFU	10	0.99862542955326	2	1455	104263977-104263978
73	HTRA1	10	0.96812196812197	46	1443	124221194-124221233, 124221248-124221250, 124221254, 124221276, 124221386
74	TALDO1	11	0.99605522682446	4	1014	763387, 763431-763433
75	SLC25A22	11	0.98559670781893	14	972	792629-792636, 792647-792650, 792666, 792889
76	CTSD	11	0.99919289749798	1	1239	1785089
77	H19	11	0.9953314659197	5	1071	2017828-2017832
78	TH	11	0.99873015873016	2	1575	2191944, 2191965
79	CDKN1C	11	0.84858044164038	144	951	2906007-2906009, 2906060-2906128, 2906142, 2906165, 2906169, 2906176-2906184, 2906187-2906244, 2906333, 2906380
80	HBD	11	0.98423423423423	7	444	5255652-5255658
81	SMPD1	11	0.98839662447257	22	1896	6411936-6411941, 6412747-6412748, 6412756-6412760, 6412770-6412777, 6412782
82	SBF2	11	0.99963963963964	2	5550	10014037, 10052617
83	USH1C	11	0.98777777777778	33	2700	17531118-17531123, 17531158-17531160, 17531307-17531326, 17531992-17531995
84	ANO5	11	0.96754194018964	89	2742	22247569, 22276954, 22276993-22276996, 22276999-22277068, 22301165-22301170, 22301181-22301187
85	RAG1	11	0.99936143039591	2	3132	36594869, 36594900
86	SLC35C1	11	0.99337121212121	7	1056	45827791-45827794, 45827801, 45827804-45827805
87	RAPSN	11	0.99596448748991	5	1239	47463213-47463217
88	GIF	11	0.99920255183413	1	1254	59599152
89	BSCL2	11	0.99928005759539	1	1389	62472932
90	SLC22A12	11	0.99759326113117	4	1662	64367162, 64367288-64367290
91	SPTBN2	11	0.9998605883173	1	7173	66455054
92	PC	11	0.99971727452643	1	3537	66620088
93	AIP	11	0.99697885196375	3	993	67257561-67257563
94	NDUFV1	11	0.99354838709677	9	1395	67377935-67377943
95	LRP5	11	0.99628712871287	18	4848	68080215-68080224, 68080227-68080229, 68080233-68080237
96	DHCR7	11	0.99439775910364	8	1428	71146577-71146584
97	TYR	11	0.99559748427673	7	1590	89018058-89018064
98	DYNC2H1	11	0.9747392815759	327	12945	102984284, 102984307-102984312, 102984315, 102984355-102984356, 102984374, 102984405-102984409, 102984418-102984433, 102991705, 103006351, 103018593, 103019341-103019346, 103029422, 103029691-103029692, 103031704, 103031720-103031723, 103036723-103036729, 103036739-103036742, 103043811-103043851, 103043918-103043942, 103043956-103043957, 103043990, 103049781, 103049789, 103049893, 103052498-103052500, 103052555-103052561, 103052582-103052587, 103052599-103052601, 103059226-103059229, 103059235, 103059248-103059282, 103059302, 103059369-103059375, 103062332-103062345, 103062347-103062348, 103062976-103062978, 103062986-103062992, 103070193, 103082518-103082547, 103082558-103082563, 103082621-103082659, 103091488, 103093696, 103093702-103093705, 103126257-103126258, 103130681-103130682, 103130686, 103153743-103153756, 103175398
99	ATM	11	0.98975029985825	94	9171	108098578, 108126963, 108127005-108127067, 108158328-108158331, 108178654-108178655, 108196118, 108196130-108196138, 108196147-108196150, 108196211, 108196793-108196797, 108202179-108202181
100	DLAT	11	0.99588477366255	8	1944	111909981-111909988
101	SC5DL	11	0.99111111111111	8	900	121174240-121174247
102	ROBO3	11	0.9944724825763	23	4161	124739428-124739435, 124749377-124749388, 124750438-124750439, 124750442
103	WNK1	12	0.99622324800671	27	7149	968514-968539, 1003728
104	CACNA2D4	12	0.99970708845929	1	3414	1902900
105	CACNA1C	12	0.99893308946807	7	6561	2794934-2794940
106	VWF	12	0.98448235015399	131	8442	6103062, 6103069, 6103073, 6125722-6125728, 6127655-6127661, 6127782-6127788, 6127940-6127946, 6128167-6128173, 6128339-6128357, 6128502-6128508, 6131925-6131932, 6131955-6131982, 6132003-6132033
107	ATN1	12	0.9930030786454	25	3573	7045600, 7045603-7045604, 7045608-7045609, 7045908-7045927
108	PEX5	12	0.99947257383966	1	1896	7354417
109	GYS2	12	0.99526515151515	10	2112	21712051-21712055, 21712058-21712059, 21712071, 21715971-21715972
110	ABCC9	12	0.99032258064516	45	4650	22063814-22063837, 22063840-22063857, 22068676, 22068680-22068681
111	KRAS	12	0.97894736842105	12	570	25380183-25380186, 25380196-25380202, 25380212
112	PKP2	12	0.99960222752586	1	2514	33049658
113	KIF21A	12	0.9997994384276	1	4986	39761733
114	LRRK2	12	0.98523206751055	112	7584	40634339-40634344, 40646723, 40696680, 40761446-40761470, 40761476-40761554
115	VDR	12	0.99299065420561	9	1284	48251303-48251311
116	MLL2	12	0.99644877813892	59	16614	49426602-49426626, 49426709-49426729, 49426750-49426752, 49427033-49427035, 49431304-49431305, 49434292-49434293, 49436571, 49440510-49440511
117	TUBA1A	12	0.80701754385965	88	456	49522195-49522241, 49522308-49522314, 49522575-49522608
118	KRT81	12	0.99538866930171	7	1518	52684021-52684027
119	KRT86	12	0.99041752224504	14	1461	52696927-52696933, 52699030-52699036
120	KRT6B	12	0.94454277286136	94	1695	52844243, 52844246, 52844265, 52844397-52844403, 52845397-52845410, 52845528-52845534, 52845598-52845604, 52845662-52845686, 52845713-52845719, 52845782-52845805
121	KRT6C	12	0.95044247787611	84	1695	52865903, 52865906, 52865918, 52865925, 52866060, 52867056-52867069, 52867091-52867108, 52867187-52867193, 52867257-52867263, 52867321-52867346, 52867457-52867463
122	KRT6A	12	0.97817109144543	37	1695	52886478, 52886490, 52886553-52886559, 52886638-52886644, 52886708-52886714, 52886772-52886778, 52886908-52886914
123	KRT5	12	0.99943598420756	1	1773	52908892
124	KRT1	12	0.96899224806202	60	1935	53069223-53069243, 53069289-53069327
125	SUOX	12	0.997557997558	4	1638	56397738-56397740, 56397748
126	LEMD3	12	0.99671052631579	9	2736	65612378-65612386
127	CEP290	12	0.97970430107527	151	7440	88443086-88443088, 88443091-88443097, 88449392, 88454614-88454619, 88462312-88462318, 88462332, 88462339, 88471554-88471562, 88481684, 88490667, 88490674, 88490680-88490683, 88490748-88490752, 88490772, 88490775-88490776, 88505471-88505481, 88505487-88505524, 88505570, 88505632-88505634, 88513947, 88513969-88513970, 88513991-88514008, 88514015, 88514018, 88519061, 88519079, 88519115, 88520186-88520189, 88520192-88520205, 88522723, 88522784-88522786
128	HAL	12	0.99949341438703	1	1974	96389638
129	SYCP3	12	0.94514767932489	39	711	102122914-102122951, 102125350
130	GNPTAB	12	0.99973481835057	1	3771	102151067
131	ATXN2	12	0.96372399797057	143	3942	111990710-111990721, 111990779, 112036742, 112036745, 112036748-112036768, 112036770-112036773, 112036776, 112036780-112036782, 112036791-112036797, 112036800, 112036812, 112036833-112036838, 112036904, 112036925-112036926, 112036937-112036943, 112036951-112036956, 112036988, 112036993-112037000, 112037008, 112037022-112037079
132	ATP6V0A2	12	0.9953325554259	12	2571	124206965-124206976
133	PUS1	12	0.99922118380062	1	1284	132426013
134	GJB6	13	0.99618320610687	3	786	20797164-20797166
135	SACS	13	0.99868995633188	18	13740	23908620-23908629, 23928749-23928756
136	CENPJ	13	0.9982574060244	7	4017	25480462-25480468
137	BRCA2	13	0.99951252802964	5	10257	32918737, 32932023-32932026
138	SUCLA2	13	0.98922413793103	15	1392	48571057-48571071
139	RB1	13	0.97093649085038	81	2787	48934178-48934223, 48937072, 48939039, 48942675, 48947548-48947570, 48947580-48947588
140	CLN5	13	0.99591503267974	5	1224	77575082-77575086
141	ZIC2	13	0.93621013133208	102	1599	100634391, 100634394-100634399, 100634402, 100637715-100637727, 100637735-100637742, 100637763, 100637808, 100637826, 100637829-100637867, 100637901-100637907, 100637911-100637913, 100637916-100637936
142	PCCA	13	0.99862825788752	3	2187	100909909-100909910, 100915062
143	ERCC5	13	0.99858457183298	6	4239	103468789-103468793, 103468804
144	TEP1	14	0.9978437341451	17	7884	20846265-20846281
145	RPGRIP1	14	0.999222999223	3	3861	21769137-21769139
146	PABPN1	14	0.89793702497286	94	921	23790730, 23790748, 23790766-23790769, 23790816-23790828, 23790856-23790857, 23790863, 23790874, 23790880-23790881, 23790886-23790890, 23790901-23790911, 23790921-23790930, 23790951-23790990, 23791001, 23791004, 23791007
147	MYH7	14	0.99259641873278	43	5808	23885328-23885363, 23885474-23885480
148	TGM1	14	0.99959250203749	1	2454	24724252
149	FOXG1	14	0.82448979591837	258	1470	29236566-29236570, 29236588, 29236678-29236680, 29236683-29236704, 29236707-29236712, 29236716, 29236720, 29236731-29236949
150	NKX2-1	14	0.99502487562189	6	1206	36988362, 36988372, 36988377-36988380
151	FANCM	14	0.98828696925329	72	6147	45623911-45623915, 45623955-45624013, 45624023-45624025, 45650857, 45667926-45667927, 45668058, 45668079
152	SYNE2	14	0.99758733835167	50	20724	64447757-64447769, 64450562, 64469553, 64469556-64469557, 64483265, 64518312, 64556306, 64556377-64556406
153	EIF2B2	14	0.99715909090909	3	1056	75471525, 75471538, 75471545
154	GALC	14	0.98833819241983	24	2058	88448549-88448551, 88448554-88448555, 88448559-88448560, 88448565-88448580, 88459395
155	SPATA7	14	0.985	27	1800	88859789-88859795, 88859805-88859810, 88859820-88859825, 88883146-88883152, 88899499
156	TTC8	14	0.99483204134367	8	1548	89305838, 89305854, 89305863-89305864, 89305896, 89305910, 89327593, 89343638
157	ATXN3	14	0.94843462246777	56	1086	92559596-92559633, 92559641-92559645, 92559650-92559662
158	VRK1	14	0.98488664987406	18	1191	97304099-97304112, 97304117-97304120
159	AMN	14	0.9992657856094	1	1362	103396658
160	INF2	14	0.928	270	3750	105173768, 105173859-105174124, 105174170, 105174182, 105174330
161	NIPA1	15	0.82020202020202	178	990	23086234-23086411
162	CHST14	15	0.9867374005305	15	1131	40763423-40763424, 40763427, 40763471-40763473, 40763477-40763482, 40763486, 40763508, 40763513
163	TTBK2	15	0.99866131191432	5	3735	43103895, 43109287-43109289, 43164905
164	STRC	15	0.98498498498498	80	5328	43892844-43892850, 43893070-43893075, 43896303-43896312, 43897496-43897502, 43900150-43900156, 43906435-43906454, 43906642-43906649, 43907744-43907751, 43910440, 43910867-43910872
165	STRC	15	0.99589743589744	8	1950	44007206-44007213
166	SPG11	15	0.99645390070922	26	7332	44925766-44925778, 44941157-44941169
167	DUOX2	15	0.99935442220788	3	4647	45398348-45398350
168	SLC12A1	15	0.98090909090909	63	3300	48527121-48527174, 48577377-48577384, 48595075
169	FBN1	15	0.99988393686165	1	8616	48829963
170	CEP152	15	0.98972809667674	51	4965	49030472, 49036437-49036446, 49036450-49036452, 49036456-49036462, 49073395-49073398, 49073419-49073424, 49090186-49090205
171	MAP2K1	15	0.98307952622673	20	1182	66727446-66727465
172	HCN4	15	0.98560354374308	52	3612	73614885-73614894, 73614897, 73614903, 73615129-73615138, 73615141-73615142, 73615148-73615151, 73659858, 73659861-73659863, 73660074-73660093
173	ETFA	15	0.98902195608782	11	1002	76588025-76588035
174	RPS17	15	0.98039215686275	8	408	82823367-82823374
175	RPS17	15	0.98039215686275	8	408	83207710-83207717
176	POLG	15	0.99758064516129	9	3720	89876828-89876836
177	MESP2	15	0.98994974874372	12	1194	90320135-90320146
178	BLM	15	0.98871650211566	48	4254	91290689, 91337420-91337421, 91337459-91337467, 91337479, 91337493-91337500, 91337503, 91337522-91337547
179	VPS33B	15	0.99784250269687	4	1854	91548928-91548931
180	HBZ	16	0.91608391608392	36	429	203948-203979, 204004-204005, 204313-204314
181	CLCN7	16	0.99503722084367	12	2418	1507327-1507338
182	GFER	16	0.99676375404531	2	618	2034329, 2034336
183	TSC2	16	0.99778761061947	12	5424	2103396-2103398, 2103401, 2103404, 2111872-2111877, 2121870
184	PKD1	16	0.91387856257745	1112	12912	2140966-2140969, 2140981-2140984, 2140986, 2141142, 2141146-2141150, 2147934-2147952, 2149669-2149675, 2149744-2149751, 2149862-2149879, 2149961-2149968, 2150167-2150174, 2150245-2150284, 2150397, 2150456-2150503, 2152126-2152132, 2152249-2152257, 2152552-2152573, 2152922-2152952, 2153441-2153447, 2153592-2153633, 2153711-2153741, 2153764-2153770, 2153820-2153827, 2153848-2153874, 2154547-2154576, 2154622, 2155875-2155895, 2156241-2156265, 2156399-2156404, 2156427-2156448, 2156456-2156462, 2156484-2156526, 2156541-2156547, 2156806-2156817, 2156901-2156941, 2157926-2157932, 2158386-2158392, 2159311-2159344, 2159403-2159409, 2159577-2159584, 2159960-2159966, 2160134-2160140, 2160197-2160203, 2160718-2160737, 2160769-2160815, 2161566-2161572, 2162917-2162919, 2163248-2163254, 2164175, 2164354, 2164443-2164466, 2164720-2164735, 2164803-2164816, 2166530-2166538, 2166564-2166595, 2166976-2166982, 2167545-2167568, 2167624-2167673, 2167860-2167898, 2167969-2168005, 2168053-2168075, 2168164-2168177, 2168209-2168246, 2168264-2168270, 2185569, 2185662-2185690
185	CREBBP	16	0.99877200163733	9	7329	3779149-3779152, 3779199, 3831223-3831226
186	ALG1	16	0.89677419354839	144	1395	5128796-5128819, 5128829, 5128834, 5128837-5128842, 5130968-5130999, 5131020-5131052, 5132600-5132639, 5134813-5134819
187	ABCC6	16	0.98537234042553	66	4512	16315526-16315537, 16315575-16315596, 16315643-16315674
188	OTOA	16	0.99795321637427	7	3420	21742176-21742182
189	SCNN1B	16	0.99687987519501	6	1923	23360065-23360070
190	PHKG2	16	0.91564291564292	103	1221	30760142-30760236, 30768337-30768344
191	FUS	16	0.98355471220746	26	1581	31196400-31196425
192	PHKB	16	0.99969530773918	1	3282	47695637
193	CYLD	16	0.99755415793152	7	2862	50811824-50811830
194	SALL1	16	0.99698113207547	12	3975	51175654, 51175664-51175673, 51175683
195	RPGRIP1L	16	0.99062816616008	37	3948	53672241-53672274, 53672311, 53672314-53672315
196	BBS2	16	0.99630655586334	8	2166	56532414-56532421
197	HSD11B2	16	0.94417077175698	68	1218	67465166, 67465205-67465236, 67465248-67465282
198	TAT	16	0.9992673992674	1	1365	71603816
199	HP	16	0.98116298116298	23	1221	72093014-72093036
200	MLYCD	16	0.99662618083671	5	1482	83932804, 83932808, 83932816, 83933099, 83933111
201	FOXF1	16	0.99210526315789	9	1140	86544210-86544211, 86544227, 86544233-86544238
202	JPH3	16	0.99777481085892	5	2247	87723352-87723356
203	GALNS	16	0.9955385595921	7	1569	88923259-88923265
204	SPG7	16	0.99623115577889	9	2388	89576913-89576914, 89579413-89579416, 89579419-89579420, 89579423
205	FANCA	16	0.996336996337	16	4368	89805931-89805932, 89869671-89869684
206	PRPF8	17	0.99771689497717	16	7008	1563788-1563803
207	GP1BA	17	0.99947916666667	1	1920	4837170
208	PITPNM3	17	0.99760683760684	7	2925	6358717, 6358796-6358801
209	MPDU1	17	0.99865591397849	1	744	7490302
210	TP53	17	0.99661590524535	4	1182	7577032-7577035
211	GUCY2D	17	0.99849033816425	5	3312	7906369-7906372, 7906403
212	HES7	17	0.99410029498525	4	678	8025663, 8025666, 8025677-8025678
213	MYH2	17	0.99725369035359	16	5826	10427792-10427798, 10446469-10446477
214	ELAC2	17	0.99717855703345	7	2481	12896188-12896194
215	COX10	17	0.98948948948949	14	1332	14095306-14095312, 14095345-14095351
216	RAI1	17	0.99475616151023	30	5721	17697094-17697117, 17698709, 17698868-17698869, 17699993-17699995
217	ATPAF2	17	0.99425287356322	5	870	17942261-17942265
218	MYO15A	17	0.99801755876522	21	10593	18024039, 18024416-18024418, 18049332-18049334, 18057096, 18057109-18057114, 18057167, 18057209-18057210, 18075062-18075065
219	UNC119	17	0.94744121715076	38	723	26879431, 26879434, 26879441-26879458, 26879479-26879480, 26879483, 26879489-26879493, 26879504-26879512, 26879519
220	NF1	17	0.99894366197183	9	8520	29422328, 29422362-29422363, 29422368, 29586050-29586052, 29663370, 29664837
221	KRT10	17	0.92478632478632	132	1755	38975205-38975235, 38975261-38975268, 38975279-38975371
222	KRT14	17	0.96053558844257	56	1419	39741304-39741309, 39742642-39742648, 39742796-39742835, 39742894, 39742898-39742899
223	KRT16	17	0.90014064697609	142	1422	39766265-39766281, 39766585-39766591, 39767905-39767911, 39768412-39768418, 39768490-39768531, 39768623-39768664, 39768740-39768759
224	KRT17	17	0.93995381062356	78	1299	39780414-39780440, 39780465-39780471, 39780516-39780541, 39780653-39780670
225	STAT5B	17	0.99280879864636	17	2364	40371359, 40384043-40384054, 40384107-40384110
226	WNK4	17	0.9983922829582	6	3732	40947169-40947170, 40947173-40947176
227	NAGS	17	0.9993769470405	1	1605	42083538
228	SLC4A1	17	0.99926900584795	2	2736	42332663-42332664
229	GRN	17	0.99551066217733	8	1782	42428800-42428804, 42429723-42429725
230	WNT3	17	0.98314606741573	18	1068	44851200, 44851203-44851211, 44851222-44851229
231	RAD51C	17	0.99381078691424	7	1131	56770065-56770071
232	TRIM37	17	0.9972366148532	8	2895	57168665, 57168669, 57168677-57168682
233	BRIP1	17	0.99093333333333	34	3750	59793347-59793352, 59793397-59793424
234	ACE	17	0.99005355776588	39	3921	61554456-61554488, 61574549, 61574554-61574555, 61574558, 61574561-61574562
235	SOX9	17	0.99411764705882	9	1530	70120062, 70120312-70120319
236	ITGB4	17	0.99853720972756	8	5469	73751876-73751883
237	SEPT9	17	0.92277115275412	136	1761	75494605-75494740
238	SGSH	17	0.98873426110007	17	1509	78194071-78194087
239	LPIN2	18	0.99851356373096	4	2691	2939546-2939549
240	AFG3L2	18	0.99958228905597	1	2394	12377052
241	DSC3	18	0.99851356373096	4	2691	28574328, 28574331, 28581593, 28581665
242	DSC2	18	0.99741315594974	7	2706	28671068-28671074
243	DSG2	18	0.99970211498362	1	3357	29078222
244	LOXHD1	18	0.99819168173599	12	6636	44126909, 44126914, 44126924-44126931, 44126937, 44126952
245	MYO5B	18	0.99332972778078	37	5547	47352944-47352980
246	SMAD4	18	0.96925858951175	51	1659	48581271-48581315, 48593552-48593557
247	ATP8B1	18	0.99920127795527	3	3756	55315863-55315865
248	LMAN1	18	0.99869536855838	2	1533	57000475-57000476
249	CCBE1	18	0.998361998362	2	1221	57134045, 57134063
250	TNFRSF11A	18	0.98487304159914	28	1851	59992586-59992609, 59992621, 59992627-59992629
251	CTDP1	18	0.99306999306999	20	2886	77496424-77496443
252	ELANE	19	0.88059701492537	96	804	853262-853353, 853357-853360
253	KISS1R	19	0.98496240601504	18	1197	920422, 920663, 920728-920743
254	MAP2K2	19	0.92352452202826	92	1203	4123781-4123872
255	TUBB4	19	0.99475655430712	7	1335	6495273-6495278, 6495281
256	C3	19	0.99419070512821	29	4992	6707095-6707100, 6707111-6707126, 6709727-6709731, 6709802, 6709808
257	PNPLA6	19	0.99924698795181	3	3984	7605176-7605178
258	PRKCSH	19	0.9533711405167	74	1587	11552122-11552124, 11558338-11558408
259	MAN2B1	19	0.99967061923584	1	3036	12767857
260	CACNA1A	19	0.9926871426672	55	7521	13318669-13318690, 13318722, 13318725, 13318782-13318794, 13318811, 13318816-13318821, 13318855, 13318864-13318867, 13319692-13319694, 13409831-13409833
261	NOTCH3	19	0.99253517082974	52	6966	15311629-15311663, 15311672-15311678, 15311682, 15311691-15311697, 15311701-15311702
262	JAK3	19	0.99911111111111	3	3375	17940945, 17941021-17941022
263	COMP	19	0.99868073878628	3	2274	18900759, 18900800, 18900812
264	CEBPA	19	0.96657381615599	36	1077	33792755-33792757, 33792761-33792763, 33792766, 33792769, 33792988, 33793025, 33793170-33793192, 33793214-33793216
265	SCN1B	19	0.95043370508055	40	807	35521725-35521764
266	PRODH2	19	0.99813780260708	3	1611	36303313-36303315
267	NPHS1	19	0.99892646269458	4	3726	36317478-36317480, 36336658
268	SDHAF1	19	0.99712643678161	1	348	36486340
269	RYR1	19	0.9950386981544	75	15117	38948155-38948200, 38976671-38976673, 39055760, 39055766-39055768, 39055780, 39055787-39055799, 39055802-39055804, 39055810-39055813, 39062846
270	ACTN4	19	0.99963450292398	1	2736	39215155
271	DLL3	19	0.9983844911147	3	1857	39993570, 39993574, 39993577
272	PRX	19	0.98062015503876	85	4386	40900704-40900709, 40901320, 40901323-40901328, 40909644-40909671, 40909685-40909686, 40909696, 40909701-40909709, 40909716, 40909720-40909721, 40909741-40909769
273	ATP1A3	19	0.99646547036433	13	3678	42470794-42470800, 42471000-42471001, 42471013, 42471019, 42471085, 42471369
274	BCAM	19	0.99788023317435	4	1887	45312421, 45312429, 45321861-45321862
275	SIX5	19	0.99684684684685	7	2220	46270179-46270185
276	FKRP	19	0.99932795698925	1	1488	47259669
277	DBP	19	0.95807770961145	41	978	49138837-49138860, 49138874, 49138909, 49138912, 49139067-49139080
278	MED25	19	0.99688057040998	7	2244	50322432, 50333113, 50339526-50339530
279	MYH14	19	0.99721813123875	17	6111	50785040-50785056
280	KCNC3	19	0.87994722955145	273	2274	50823503-50823584, 50823595, 50826450, 50826454, 50831531, 50831547, 50831713-50831714, 50831718, 50831728, 50831733, 50831751-50831765, 50831940-50831946, 50832027, 50832030, 50832051, 50832152, 50832185-50832339
281	NLRP12	19	0.99905838041431	3	3186	54313618-54313620
282	PRKCG	19	0.99522445081184	10	2094	54392943, 54393146, 54393189-54393194, 54393197, 54393200
283	NLRP7	19	0.99775208734746	7	3114	55451167-55451173
284	TNNT1	19	0.9936628643853	5	789	55658061-55658063, 55658068, 55658072
285	KLF11	2	0.99350227420403	10	1539	10183876-10183885
286	APOB	2	0.99985392930178	2	13692	21266755, 21266759
287	OTOF	2	0.98365031698365	98	5994	26699759-26699824, 26699833-26699836, 26699859-26699860, 26699887-26699911, 26700103
288	ALK	2	0.99979436561793	1	4863	29451750
289	SPAST	2	0.9151809832523	157	1851	32289085-32289091, 32289111-32289235, 32289239-32289246, 32312561-32312562, 32341200, 32341203, 32341215-32341225, 32341228, 32341269
290	SOS1	2	0.99775112443778	9	4002	39222421, 39224558-39224562, 39281924-39281925, 39283933
291	LRPPRC	2	0.99976105137395	1	4185	44161335
292	MSH2	2	0.99928698752228	2	2805	47705535-47705536
293	MSH6	2	0.99534655890277	19	4083	48010422, 48010530-48010537, 48010541-48010549, 48032757
294	LHCGR	2	0.98714285714286	27	2100	48982693-48982703, 48982762-48982773, 48982785-48982788
295	NRXN1	2	0.99751412429379	11	4425	51255325-51255335
296	EFEMP1	2	0.98650472334683	20	1482	56102081-56102083, 56102090-56102093, 56102109, 56102117, 56102120-56102130
297	ATP6V1B1	2	0.99870298313878	2	1542	71163086-71163087
298	MCEE	2	0.98870056497175	6	531	71337212-71337217
299	DYSF	2	0.99921383647799	5	6360	71693974-71693978
300	SPR	2	0.99745547073791	2	786	73114781-73114782
301	ALMS1	2	0.99592130518234	51	12504	73613028-73613074, 73676637-73676639, 73786260
302	DCTN1	2	0.99843627834246	6	3837	74598117-74598119, 74598125-74598127
303	REEP1	2	0.98679867986799	8	606	86564617-86564618, 86564628-86564633
304	EIF2AK3	2	0.99850790808714	5	3351	88887505, 88887517, 88926730-88926732
305	ZAP70	2	0.9994623655914	1	1860	98340846
306	RANBP2	2	0.90811369509044	889	9675	109345588-109345598, 109347317-109347341, 109347874-109347894, 109347929-109347930, 109352000-109352055, 109352099-109352105, 109357110-109357116, 109363236-109363242, 109363251-109363254, 109365376-109365379, 109365452-109365498, 109365544-109365573, 109367751-109367757, 109367817-109367847, 109368046-109368080, 109368104-109368110, 109368433, 109368437, 109368449, 109369899, 109369915-109369948, 109370345-109370363, 109370395-109370401, 109371385-109371402, 109371495-109371512, 109371632-109371633, 109374869-109374872, 109374901-109374918, 109378648-109378651, 109381993, 109382748-109382754, 109382787-109382793, 109382878-109382896, 109382937-109382946, 109382986-109383003, 109383052-109383059, 109383084-109383113, 109383142-109383148, 109383187-109383210, 109383262-109383274, 109383315-109383321, 109383354-109383396, 109383635-109383641, 109383672-109383712, 109383768-109383798, 109383822-109383828, 109383885-109383910, 109383990-109384010, 109384164-109384205, 109384393-109384412, 109384505-109384529, 109384561-109384567, 109384625-109384652, 109399154-109399164
307	NPHP1	2	0.99950835791544	1	2034	110917739
308	MERTK	2	0.98933333333333	32	3000	112656316-112656347
309	GLI2	2	0.99831968073934	8	4761	121555024, 121746085-121746090, 121746376
310	PROC	2	0.9992784992785	1	1386	128180700
311	CFC1	2	0.9985119047619	1	672	131280382
312	RAB3GAP1	2	0.98947725729803	31	2946	135888168-135888197, 135888205
313	ZEB2	2	0.9997256515775	1	3645	145161524
314	NEB	2	0.99344147391609	131	19974	152359373, 152421562, 152421566, 152432684-152432690, 152432730-152432733, 152432739-152432830, 152482114-152482131, 152511784-152511789, 152511857
315	SCN2A	2	0.99318710535061	41	6018	166198863-166198865, 166198868-166198872, 166210858, 166234129-166234160
316	GALNT3	2	0.99947423764458	1	1902	166611158
317	SCN1A	2	0.99933299983325	4	5997	166895933-166895934, 166903448, 166903457
318	SCN9A	2	0.99646107178969	21	5934	167060961-167060962, 167083191-167083209
319	ABCB11	2	0.99899142713061	4	3966	169836376-169836379
320	HOXD13	2	0.99709302325581	3	1032	176957786-176957788
321	AGPS	2	0.93525543753161	128	1977	178257588, 178257597, 178285068, 178333245-178333247, 178346794-178346914, 178362479
322	TTN	2	0.99958103902322	42	100248	179417576-179417577, 179419717-179419718, 179523753-179523759, 179538419-179538424, 179542852-179542870, 179559362-179559364, 179598078, 179642147-179642148
323	COL3A1	2	0.99681890479436	14	4401	189854122-189854127, 189871665, 189871672-189871674, 189871679, 189871702-189871703, 189872664
324	COL5A2	2	0.99666666666667	15	4500	189916945, 189918150-189918158, 189927924-189927927, 189932750
325	PMS1	2	0.98142193640586	52	2799	190718689-190718693, 190718702-190718705, 190718725-190718727, 190718737-190718738, 190718751-190718755, 190718780-190718808, 190718965-190718967, 190728826
326	ALS2	2	0.99316445516687	34	4974	202572592-202572612, 202609087-202609099
327	BMPR2	2	0.99839589348733	5	3117	203420671-203420675
328	FASTKD2	2	0.9985935302391	3	2133	207652753-207652755
329	ABCA12	2	0.99807395993837	15	7788	215809815, 215976369, 216002884-216002896
330	COL4A4	2	0.99842022116904	8	5064	227966618-227966625
331	COL4A3	2	0.99820466786355	9	5013	228163444-228163447, 228163457, 228163460-228163463
332	CHRND	2	0.99227799227799	12	1554	233390926-233390931, 233390934-233390939
333	UGT1A1	2	0.99750312109863	4	1602	234668951-234668954
334	COL6A3	2	0.9992657856094	7	9534	238250749-238250755
335	D2HGDH	2	0.99616858237548	6	1566	242707164-242707169
336	AVP	20	0.85454545454545	72	495	3063392, 3063630-3063634, 3063652, 3063656-3063665, 3063676-3063677, 3063686, 3063690, 3063741-3063786, 3063799-3063803
337	C20orf7	20	0.97687861271676	24	1038	13779107-13779108, 13782136, 13782193-13782196, 13782201-13782209, 13782219-13782224, 13782228-13782229
338	THBD	20	0.99768518518519	4	1728	23028893-23028896
339	SNTA1	20	0.9901185770751	15	1518	32031386, 32031389, 32031394-32031399, 32031406-32031412
340	GDF5	20	0.9867197875166	20	1506	34025111-34025112, 34025306-34025323
341	CTSA	20	0.99599198396794	6	1497	44520238-44520243
342	SALL4	20	0.99905123339658	3	3162	50418882-50418884
343	GNAS	20	0.97366730892742	82	3114	57429624-57429663, 57429688-57429729
344	SOX18	20	0.69004329004329	358	1155	62680512-62680869
345	IFNGR2	21	0.97731755424063	23	1014	34775850-34775860, 34775871-34775875, 34775880, 34775898-34775899, 34775907-34775910
346	HLCS	21	0.99770747363595	5	2181	38309515-38309519
347	AIRE	21	0.9957264957265	7	1638	45709914, 45709923-45709925, 45713053-45713054, 45713057
348	ITGB2	21	0.98051948051948	45	2310	46308646-46308668, 46308679-46308694, 46308700-46308701, 46308704-46308707
349	COL18A1	21	0.99962013295347	2	5265	46875480-46875481
350	COL6A1	21	0.99708454810496	9	3087	47410316-47410324
351	PCNT	21	0.9991009889122	9	10011	47832898-47832906
352	PEX26	22	0.99891067538126	1	918	18561230
353	GP1BB	22	0.95813204508857	26	621	19711480-19711483, 19711487-19711490, 19711604, 19711611, 19711650, 19711656-19711660, 19711674, 19711808-19711811, 19711823-19711827
354	TBX1	22	0.88709677419355	168	1488	19748428-19748595
355	CHEK2	22	0.93072118114708	122	1761	29083898-29083917, 29083932-29083965, 29085123-29085143, 29085163-29085171, 29090020-29090035, 29091197-29091203, 29091785-29091791, 29091837-29091844
356	NF2	22	0.9910514541387	16	1788	30067849-30067864
357	MYH9	22	0.99643039265681	21	5883	36688073-36688093
358	TRIOBP	22	0.97914905607213	148	7098	38119856-38119905, 38120003-38120052, 38120153, 38120176-38120178, 38120417-38120450, 38120477-38120486
359	EP300	22	0.99944789510007	4	7245	41545042, 41546051-41546053
360	TNFRSF13C	22	0.98198198198198	10	555	42322271-42322274, 42322277-42322279, 42322320-42322322
361	NAGA	22	0.99919093851133	1	1236	42456380
362	CYB5R3	22	0.97682119205298	21	906	43045301-43045321
363	MLC1	22	0.9973544973545	3	1134	50502593-50502595
364	TYMP	22	0.97515527950311	36	1449	50964471, 50964490-50964496, 50964501-50964512, 50964803, 50964810-50964813, 50964824-50964834
365	ARSA	22	0.99737532808399	4	1524	51063662-51063663, 51063830, 51063833
366	SHANK3	22	0.90369946605645	505	5244	51113070-51113132, 51135951-51136143, 51158738-51158742, 51158750-51158760, 51158769-51158805, 51158818-51158828, 51158830, 51158839-51158869, 51158883, 51158893-51158897, 51158920-51158922, 51158928, 51158948-51158957, 51158965-51158967, 51158981-51158986, 51158989-51158994, 51158996-51159028, 51159039, 51159076-51159079, 51159199, 51169259, 51169291, 51169295, 51169530-51169577, 51169580, 51169586-51169591, 51169602-51169607, 51169613-51169614, 51169621-51169622, 51169646, 51169711-51169720
367	SUMF1	3	0.99911111111111	1	1125	4458921
368	FANCD2	3	0.97486413043478	111	4416	10085533-10085539, 10088264-10088311, 10088326-10088346, 10091150-10091156, 10106473-10106479, 10107165-10107171, 10114941-10114947, 10115015-10115021
369	GLB1	3	0.99016715830875	20	2034	33138544, 33138556-33138564, 33138567-33138576
370	MLH1	3	0.99955966534566	1	2271	37053348
371	SCN5A	3	0.99303786721005	41	5889	38592891-38592931
372	TMIE	3	0.99363057324841	3	471	46751074-46751076
373	RFT1	3	0.99630996309963	6	1626	53156423-53156428
374	ATXN7	3	0.90697674418605	264	2838	63898275-63898339, 63898357-63898398, 63898419-63898422, 63898430, 63898433, 63898440-63898583, 63898590-63898596
375	GBE1	3	0.95732574679943	90	2109	81643167, 81754630, 81754642-81754646, 81754660-81754661, 81754669-81754673, 81754684-81754758, 81754764
376	PROS1	3	0.99852289512555	3	2031	93596010, 93596020-93596021
377	ARL13B	3	0.98290598290598	22	1287	93761879-93761894, 93762057, 93768304-93768308
378	ARL6	3	0.92335115864528	43	561	97486989-97487011, 97503813-97503819, 97503828-97503832, 97503844-97503851
379	IQCB1	3	0.99888703394546	2	1797	121516067-121516068
380	CASR	3	0.99413036762434	19	3237	122003526-122003544
381	RHO	3	0.99617956064947	4	1047	129251443-129251446
382	NPHP3	3	0.96168294515402	153	3993	132401653-132401662, 132409384, 132416168, 132423191, 132423205, 132435619-132435626, 132438549-132438674, 132441063-132441067
383	FOXL2	3	0.97170645446508	32	1131	138664658, 138664793-138664795, 138664803-138664805, 138664809, 138664841-138664843, 138664861-138664871, 138664890-138664899
384	PLOD2	3	0.94598155467721	123	2277	145791083-145791099, 145794621, 145799636, 145799647, 145802964, 145804574-145804576, 145804585, 145804598-145804695
385	GFM1	3	0.99955673758865	1	2256	158399910
386	IFT80	3	0.99914089347079	2	2328	160037686, 160099292
387	OPA1	3	0.99803149606299	6	3048	193354984-193354989
388	FGFR3	4	0.99876390605686	3	2427	1808916-1808918
389	HTT	4	0.98939442146569	100	9429	3076600, 3076603, 3076604-3076677, 3076681, 3076684, 3076687-3076692, 3076722, 3201566-3201572, 3201576-3201583
390	DOK7	4	0.98877887788779	17	1515	3465254-3465261, 3465271-3465278, 3494872
391	DOK7	4	0.99830795262267	1	591	3494872
392	MSX1	4	0.99890350877193	1	912	4861967
393	EVC	4	0.98220879489762	53	2979	5713108-5713114, 5713232-5713233, 5713236, 5713256-5713265, 5713268, 5713272, 5713275, 5754629-5754658
394	PROM1	4	0.99846035411855	4	2598	15981504-15981507
395	QDPR	4	0.99863945578231	1	735	17513653
396	CNGA1	4	0.97280701754386	62	2280	47954600-47954619, 47954622-47954624, 47954633, 47954643-47954678, 47972980, 47972988
397	KIT	4	0.99829409757762	5	2931	55602771-55602775
398	GNRHR	4	0.99898682877406	1	987	68606406
399	SLC4A4	4	0.99634703196347	12	3285	72352731-72352735, 72397853-72397859
400	ALB	4	0.99234972677596	14	1830	74283248, 74285971-74285983
401	CDS1	4	0.9992784992785	1	1386	85560123
402	PKD2	4	0.99002407980736	29	2907	88928915, 88928942-88928952, 88929000-88929011, 88973143-88973146, 88973182
403	SNCA	4	0.94326241134752	24	423	90743489, 90749294-90749296, 90749307, 90749311, 90749323-90749335, 90756702, 90756705-90756708
404	CISD2	4	0.91176470588235	36	408	103808506-103808522, 103808569-103808587
405	GAR1	4	0.99694189602446	2	654	110745188-110745189
406	ANK2	4	0.99941047667172	7	11874	114161662, 114251475-114251478, 114262925, 114271404
407	BBS7	4	0.95530726256983	96	2148	122749818-122749819, 122749825, 122756354, 122775859-122775870, 122775879, 122775893-122775901, 122775909-122775975, 122782751-122782753
408	BBS12	4	0.99390529770277	13	2133	123665168-123665180
409	MFSD8	4	0.98137443802184	29	1557	128851968-128851971, 128859942-128859959, 128859970, 128859982-128859987
410	NR3C2	4	0.99796954314721	6	2955	149075979-149075983, 149075991
411	FGA	4	0.9996155324875	1	2601	155507942
412	CTSO	4	0.99171842650104	8	966	156863571, 156864409-156864415
413	GLRB	4	0.9524765729585	71	1494	158041708-158041771, 158041803-158041809
414	ETFDH	4	0.9940668824164	11	1854	159606297, 159616709-159616718
415	GK	4	0.95306859205776	78	1662	166199234-166199270, 166199346-166199352, 166199584-166199610, 166200321-166200327
416	SDHA	5	0.92781954887218	144	1995	223682-223683, 228359-228365, 236553-236559, 236646-236681, 251173-251179, 251465-251472, 251538-251568, 254569-254612, 256472, 256509
417	SLC6A3	5	0.98604401502952	26	1863	1414858-1414883
418	SDHA	5	0.95718654434251	14	327	1593261-1593267, 1593383-1593389
419	DNAH5	5	0.99473873873874	73	13875	13894861, 13894890, 13894894-13894912, 13894919, 13916470, 13916495-13916523, 13916544-13916564
420	FAM134B	5	0.97858099062918	32	1494	16474900-16474919, 16478965, 16616828-16616837, 16616893
421	IL7R	5	0.99420289855072	8	1380	35867440-35867447
422	NIPBL	5	0.96969696969697	255	8415	36962226, 37022467-37022474, 37036481-37036589, 37045666-37045673, 37048604-37048732
423	LIFR	5	0.96812386156648	105	3294	38482691-38482714, 38482728-38482769, 38490360, 38490374, 38506007-38506042, 38506081
424	OXCT1	5	0.95713371721049	67	1563	41862744-41862749, 41862759-41862774, 41862782-41862804, 41862806-41862821, 41862831, 41862834, 41862849-41862852
425	ITGA2	5	0.99774393683023	8	3546	52347310-52347317
426	ERCC8	5	0.99328295549958	8	1191	60224701, 60224756-60224762
427	SMN2	5	0.9728813559322	24	885	69362949, 69365094-69365115, 69372353
428	SMN2	5	0.97401129943503	23	885	70238373, 70240517-70240538
429	HEXB	5	0.99820466786355	3	1671	73981224-73981225, 73981228
430	AP3B1	5	0.98569254185693	47	3285	77298726-77298728, 77411965-77411988, 77412020, 77412028-77412032, 77424997, 77536753, 77563403, 77563409-77563419
431	RASA1	5	0.94497455470738	173	3144	86633795, 86637107-86637110, 86637124-86637125, 86637131-86637138, 86669980-86670137
432	MEF2C	5	0.98945147679325	15	1422	88024391-88024397, 88024400-88024401, 88024405-88024409, 88024428
433	GPR98	5	0.99038105808361	182	18921	89925081, 89971944-89971953, 89971958, 89971966-89971970, 89971985, 89971996-89972000, 90004649, 90004658-90004661, 90004673-90004674, 90008201-90008211, 90008245, 90020675, 90020716-90020751, 90049570, 90049606-90049646, 90144514-90144535, 90144541, 90144558-90144565, 90144573-90144602
434	WDR36	5	0.97163865546218	81	2856	110436322-110436363, 110436395-110436420, 110441760-110441770, 110441774-110441775
435	APC	5	0.99929676511955	6	8532	112111326, 112128168, 112128197-112128200
436	HSD17B4	5	0.99502487562189	11	2211	118835117-118835119, 118861645-118861652
437	HSD17B4	5	0.97163120567376	8	282	118861645-118861652
438	FBN2	5	0.99370637372697	55	8739	127614412-127614438, 127644991, 127644997, 127645003, 127702070-127702091, 127702110-127702112
439	MYOT	5	0.99465597862391	8	1497	137221792, 137221859, 137221868-137221870, 137221880-137221881, 137221889
440	MATR3	5	0.99842767295597	4	2544	138651818-138651819, 138653399, 138658531
441	NDUFA2	5	0.99666666666667	1	300	140027148
442	DIAPH1	5	0.99685781618225	12	3819	140907264, 140953461, 140953470, 140953529, 140953561, 140953564-140953569, 140953769
443	GABRG2	5	0.99935400516796	1	1548	161522532
444	GRM6	5	0.98215641609719	47	2634	178421797-178421839, 178421857, 178421860, 178421923, 178421943
445	SQSTM1	5	0.99622071050642	5	1323	179247985-179247989
446	FOXC1	6	0.99157641395909	14	1662	1611552, 1611705, 1611709, 1611823-1611827, 1611830-1611831, 1611927, 1612018-1612020
447	ATXN1	6	0.99019607843137	24	2448	16327865-16327867, 16327885, 16327888, 16327891, 16327894, 16327897, 16327907-16327909, 16327916-16327918, 16327921-16327930
448	TNXB	6	0.96163815448419	74	1929	31976916, 31976926, 31977387-31977394, 31977525-31977555, 31977998, 31978498-31978518, 31979475-31979483, 31979963, 31980000
449	CYP21A2	6	0.96236559139785	56	1488	32006215-32006217, 32006337, 32008195-32008201, 32008445-32008455, 32008874-32008907
450	TNXB	6	0.99473642862754	67	12729	32009648-32009664, 32010111-32010129, 32010272, 32010732, 32011235, 32011248, 32012329-32012337, 32012814-32012820, 32021355-32021365
451	HLA-DQA1	6	0.8828125	90	768	32605295, 32609130, 32609181, 32609806, 32609949-32609977, 32610002, 32610008-32610009, 32610387-32610406, 32610436, 32610461, 32610475-32610498, 32610532-32610539
452	HLA-DQB1	6	0.77226463104326	179	786	32629124-32629173, 32629199, 32629224-32629234, 32629764, 32629802, 32629809, 32630025, 32632575-32632628, 32632650-32632654, 32632687, 32632694, 32632697-32632733, 32632741-32632750, 32632781-32632782, 32632796-32632797, 32634350
453	COL11A2	6	0.99750527729802	13	5211	33138126-33138129, 33140134-33140138, 33140141-33140144
454	SYNGAP1	6	0.92757936507937	292	4032	33388042-33388108, 33393624-33393659, 33393662-33393666, 33393669, 33393672, 33410906-33410909, 33411488-33411535, 33411542-33411671
455	MOCS1	6	0.99843014128728	3	1911	39874694, 39874704-39874705
456	RUNX2	6	0.99553001277139	7	1566	45390443-45390445, 45390450-45390453
457	CD2AP	6	0.9953125	9	1920	47544764, 47563631, 47563634-47563640
458	MUT	6	0.95250776742122	107	2253	49409553-49409572, 49409575-49409578, 49409588-49409620, 49409634-49409640, 49409655-49409678, 49409683-49409684, 49415451-49415463, 49421443, 49423823, 49423844, 49423857
459	EYS	6	0.98675145733969	125	9435	65146119-65146125, 65146129-65146131, 65523315, 65523339-65523355, 65523358-65523369, 65523372-65523375, 65523389-65523395, 65523397-65523412, 65523422-65523427, 65596601-65596616, 65596622, 65596625-65596635, 65596657, 65596726-65596727, 66063402-66063417, 66094327, 66112371-66112374
460	LMBRD1	6	0.97966728280961	33	1623	70410708-70410713, 70410717-70410733, 70410744-70410748, 70410760-70410761, 70462151-70462152, 70462173
461	RIMS1	6	0.99094309903524	46	5079	72889354-72889362, 72974678-72974695, 72974712-72974715, 72974722, 73108659, 73108767-73108776, 73108794-73108796
462	SLC17A5	6	0.99865591397849	2	1488	74331647-74331648
463	LCA5	6	0.99713467048711	6	2094	80196721-80196722, 80196736-80196738, 80196762
464	BCKDHB	6	0.93723494486853	74	1179	80880999-80881031, 80881043-80881083
465	SLC35A1	6	0.97140039447732	29	1014	88221175-88221203
466	NDUFAF4	6	0.90909090909091	48	528	97338980-97339027
467	SEC63	6	0.99956197985107	1	2283	108227737
468	FIG4	6	0.9992657856094	2	2724	110081478-110081479
469	WISP3	6	0.99553172475424	5	1119	112389576-112389579, 112389586
470	COL10A1	6	0.9995105237396	1	2043	116442360
471	LAMA2	6	0.99700950550037	28	9363	129486736, 129486746, 129635920-129635929, 129663561-129663571, 129775373-129775377
472	ENPP1	6	0.97984161267099	56	2778	132171131, 132171181-132171190, 132203485-132203488, 132203510-132203550
473	EYA4	6	0.99375	12	1920	133769265, 133769270, 133783576-133783585
474	PEX7	6	0.96604938271605	33	972	137167220, 137167244-137167274, 137167284
475	PEX3	6	0.97860962566845	24	1122	143792105-143792107, 143792117-143792124, 143792520-143792532
476	EPM2A	6	0.99497991967871	5	996	145956392-145956396
477	SYNE1	6	0.99886337804046	30	26394	152552701-152552702, 152583290, 152583293, 152599382-152599384, 152647171-152647186, 152716701-152716707
478	PARK2	6	0.9964234620887	5	1398	161969967-161969970, 161969973
479	TBP	6	0.89411764705882	108	1020	170871010-170871109, 170871129-170871136
480	LFNG	7	0.8140350877193	212	1140	2559496-2559554, 2559573-2559576, 2559586, 2559595, 2559603-2559613, 2559617-2559623, 2559625, 2559640-2559641, 2559647, 2559658-2559664, 2559669-2559697, 2559722, 2559734-2559735, 2559742-2559743, 2559746-2559751, 2559757-2559797, 2559821-2559857
481	PMS2	7	0.96832753959058	82	2589	6013045-6013052, 6013150-6013156, 6026988, 6027002, 6029456-6029458, 6037054, 6042123-6042146, 6042264-6042267, 6043615-6043647
482	TWIST1	7	0.7504105090312	152	609	19156793-19156944
483	DNAH11	7	0.9957264957265	58	13572	21630536-21630568, 21630599, 21630604, 21630607, 21630915-21630916, 21630932, 21630935, 21893975, 21893993, 21894008, 21894071, 21939616-21939629
484	FAM126A	7	0.99425287356322	9	1566	22985208-22985216
485	HOXA13	7	0.85518423307626	169	1167	27239093, 27239299-27239301, 27239304-27239312, 27239316-27239318, 27239322-27239326, 27239330-27239334, 27239337, 27239372-27239485, 27239540-27239548, 27239551-27239568, 27239576
486	GARS	7	0.99864864864865	3	2220	30634583-30634585
487	RP9	7	0.9984984984985	1	666	33134883
488	BBS9	7	0.99286786786787	19	2664	33303924-33303926, 33303958, 33303972-33303986
489	CCM2	7	0.97752808988764	30	1335	45039933-45039962
490	EGFR	7	0.99972474538949	1	3633	55086991
491	KCTD7	7	0.99885057471264	1	870	66094176
492	SBDS	7	0.99867197875166	1	753	66453460
493	NCF1	7	0.96242424242424	31	825	72639983-72639989, 72640030-72640039, 72643704-72643710, 72644230-72644236
494	FKBP6	7	0.99288617886179	7	984	72742631-72742637
495	ELN	7	0.99172413793103	18	2175	73442534-73442551
496	NCF1	7	0.99317988064791	8	1173	74193642, 74197385-74197391
497	CD36	7	0.99577167019027	6	1419	80286013-80286016, 80302697-80302698
498	AKAP9	7	0.99385875127943	72	11724	91609622-91609647, 91630244-91630268, 91646388-91646395, 91690722, 91707153-91707159, 91712778-91712780, 91727480, 91727485
499	KRIT1	7	0.99683401175938	7	2211	91844028, 91864931, 91867051, 91867055, 91867061-91867063
500	PEX1	7	0.99740394600208	10	3852	92122423, 92140297-92140303, 92140311-92140312
501	COL1A2	7	0.99804925627896	8	4101	94035609-94035610, 94049725-94049728, 94049921, 94058696
502	SGCE	7	0.99262536873156	10	1356	94228253, 94252644, 94252649, 94257524-94257530
503	SLC26A5	7	0.99910514541387	2	2235	103017271, 103017288
504	RELN	7	0.99980726606919	2	10377	103301973-103301974
505	SLC26A3	7	0.99651416122004	8	2295	107432277-107432284
506	CFTR	7	0.95295971190637	209	4443	117188713-117188753, 117188760-117188800, 117188846-117188877, 117234999, 117235019-117235112
507	AASS	7	0.99928083423229	2	2781	121769573, 121769586
508	IMPDH1	7	0.98833333333333	21	1800	128049884-128049896, 128049907-128049914
509	FLNC	7	0.99914404499878	7	8178	128498187-128498193
510	ATP6V0A4	7	0.97265160523187	69	2523	138394369, 138394372, 138394375-138394382, 138394389, 138394393-138394397, 138394399-138394401, 138394411-138394460
511	BRAF	7	0.99956540634507	1	2301	140624410
512	PRSS1	7	0.85349462365591	109	744	142458483-142458514, 142459625-142459629, 142459676-142459682, 142460310-142460342, 142460366-142460397
513	CLCN1	7	0.99932591843613	2	2967	143039046-143039047
514	CNTNAP2	7	0.99824824824825	7	3996	145813983-145813988, 145813997
515	KCNH2	7	0.99367816091954	22	3480	150644707, 150644730-150644732, 150644739-150644743, 150644921-150644924, 150671863-150671866, 150671889-150671892, 150674986
516	PRKAG2	7	0.99766081871345	4	1710	151271996-151271999
517	MNX1	7	0.87810945273632	147	1206	156799286-156799291, 156802647-156802755, 156802779-156802782, 156802786, 156802873, 156802894-156802901, 156802908-156802924, 156802941
518	CLN8	8	0.99651567944251	3	861	1728671-1728672, 1728686
519	MCPH1	8	0.99481658692185	13	2508	6289095-6289107
520	TUSC3	8	0.99713467048711	3	1047	15480605, 15480652-15480653
521	LPL	8	0.99579831932773	6	1428	19810821-19810826
522	SFTPC	8	0.99326599326599	4	594	22021056-22021059
523	ADAM9	8	0.99674796747967	8	2460	38865408-38865415
524	ANK1	8	0.99964875307341	2	5694	41561585-41561586
525	THAP1	8	0.99844236760125	1	642	42693236
526	HGSNAT	8	0.99842767295597	3	1908	42995656, 43054693-43054694
527	CHD7	8	0.99933288859239	6	8994	61654516-61654521
528	EYA1	8	0.99943788645306	1	1779	72211384
529	CA2	8	0.99616858237548	3	783	86386025-86386026, 86386029
530	NBN	8	0.9924944812362	17	2265	90967661-90967677
531	DECR1	8	0.99603174603175	4	1008	91033161-91033164
532	TMEM67	8	0.99564926372155	13	2988	94768059, 94777683, 94777817-94777823, 94777840-94777841, 94811937, 94827545
533	VPS13B	8	0.99274637318659	87	11994	100050676-100050688, 100050691-100050695, 100123345, 100123395-100123409, 100123412, 100123415-100123422, 100123451, 100123461-100123462, 100123473-100123491, 100513935, 100513944-100513947, 100513963-100513964, 100513967, 100513999-100514001, 100514020-100514026, 100836133-100836135, 100883858
534	KCNQ3	8	0.99579992363498	11	2619	133492769-133492779
535	TG	8	0.99987961959793	1	8307	133882071
536	CYP11B1	8	0.94246031746032	87	1512	143956453-143956459, 143956703-143956709, 143957128-143957132, 143957195-143957210, 143958513-143958533, 143958572-143958602
537	CYP11B2	8	0.92592592592593	112	1512	143993950-143993956, 143993988-143993994, 143994026-143994032, 143994069-143994081, 143994101-143994120, 143994702, 143994724, 143994816-143994822, 143996311-143996317, 143996536-143996556, 143999018-143999038
538	PLEC	8	0.99523301316258	67	14055	144996244, 144996247-144996253, 144996260, 144996307-144996313, 144996548-144996554, 144997133-144997134, 144997987-144997990, 144998909-144998911, 144998915-144998916, 144998938, 144999047-144999061, 145004357, 145004368, 145004371-145004382, 145006196-145006198
539	GPT	8	0.99865861837693	2	1491	145731473-145731474
540	KCNV2	9	0.98168498168498	30	1638	2718742-2718767, 2718993-2718996
541	GLIS3	9	0.99570354457573	12	2793	4117937-4117939, 4117949, 4118041-4118043, 4118052-4118053, 4118060-4118062
542	JAK2	9	0.96940276551927	104	3399	5069970-5069976, 5077453-5077457, 5077471-5077543, 5077566-5077580, 5090449-5090452
543	GNE	9	0.99867374005305	3	2262	36217436-36217438
544	TMC1	9	0.98904949627683	25	2283	75315538, 75403367-75403389, 75420313
545	VPS13A	9	0.97459317585302	242	9525	79820240-79820258, 79820264-79820269, 79820315, 79824397-79824399, 79840850, 79843120-79843122, 79843146, 79843166, 79843174-79843180, 79891033-79891036, 79896783-79896801, 79896810-79896814, 79896824-79896830, 79896840, 79897052, 79897137-79897169, 79908404-79908424, 79928923-79928925, 79931170-79931192, 79931198-79931201, 79932526, 79932538, 79932543-79932549, 79932551-79932565, 79932573, 79932576-79932580, 79932607-79932614, 79934502, 79946964-79946965, 79946995, 79946998, 79952290, 79952332, 79955121-79955129, 79955174, 79955193, 79955320-79955321, 79974312-79974318, 79975458, 79996962, 79996992-79997003
546	PTCH1	9	0.99884898710866	5	4344	98231118-98231121, 98270606
547	XPA	9	0.99878345498783	1	822	100447234
548	FOXE1	9	0.99197860962567	9	1122	100616701-100616709
549	TGFBR1	9	0.97619047619048	36	1512	101867534-101867569
550	INVS	9	0.99749843652283	8	3198	103004889, 103004950, 103046832-103046837
551	IKBKAP	9	0.9982495623906	7	3999	111655315-111655321
552	CDK5RAP2	9	0.99788806758184	12	5682	123290084-123290095
553	LMX1B	9	0.9964253798034	4	1119	129456035, 129456046-129456048
554	STXBP1	9	0.99061810154525	17	1812	130415994-130416010
555	ENG	9	0.99949418310572	1	1977	130588007
556	TSC1	9	0.99885550786838	4	3495	135771993-135771994, 135772000-135772001
557	CEL	9	0.84236019374725	358	2271	135944583-135944630, 135945985-135946018, 135946657, 135946666, 135946683-135946890, 135946896, 135946900, 135946911-135946972, 135946992, 135946995
558	SURF1	9	0.98006644518272	18	903	136223294-136223295, 136223298-136223304, 136223313-136223320, 136223329
559	ADAMTS13	9	0.99276377217554	31	4284	136290674-136290686, 136293788-136293791, 136293796, 136293803, 136293814-136293817, 136293822-136293824, 136293827-136293830, 136293833
560	DBH	9	0.99892125134844	2	1854	136523501-136523502
561	COL5A1	9	0.99854993655972	8	5517	137534099-137534101, 137534115-137534119
562	LHX3	9	0.97601323407775	29	1209	139090786, 139090789, 139090876-139090878, 139090883-139090899, 139094857-139094862, 139094878
563	INPP5E	9	0.99741602067183	5	1935	139326276-139326280
564	NOTCH1	9	0.99947835159103	4	7668	139391523-139391526
565	AGPAT2	9	0.97968936678614	17	837	139581775-139581788, 139581792-139581794
566	SLC34A3	9	0.99777777777778	4	1800	140128333, 140128338, 140128379, 140128382
567	KAL1	X	0.99314733235438	14	2043	8553408-8553417, 8699945-8699948
568	OFD1	X	0.99868377755841	4	3039	13786340-13786343
569	FANCB	X	0.97751937984496	58	2580	14871230, 14877304-14877309, 14877355, 14877371, 14877400, 14877422-14877456, 14882992-14883003, 14883318
570	PHKA2	X	0.99892125134844	4	3708	18917314-18917317
571	RPS6KA3	X	0.99730094466937	6	2223	20179763-20179766, 20213262-20213263
572	SMS	X	0.99455040871935	6	1101	21958951, 21958954, 21958973, 21958977-21958979
573	ARX	X	0.94849023090586	87	1689	25031281, 25031284, 25031382, 25031479, 25031510, 25031524-25031547, 25031558, 25031651-25031657, 25031667, 25031675-25031686, 25031695, 25031698-25031711, 25031780-25031795, 25031801-25031804, 25031807-25031808
574	DMD	X	0.9919515283053	89	11058	31196871-31196885, 31198542-31198556, 32366644-32366645, 32398632-32398653, 32398660-32398664, 32398767, 32398791-32398796, 32536127-32536130, 33038256-33038274
575	RPGR	X	0.89534547557097	362	3459	38145069, 38145301-38145627, 38145647-38145678, 38145709, 38182198
576	NYX	X	0.99861687413555	2	1446	41333371, 41333927
577	CFP	X	0.99929078014184	1	1410	47489004
578	EBP	X	0.995670995671	3	693	48382319-48382321
579	WAS	X	0.99271040424122	11	1509	48547230, 48547241-48547246, 48547260-48547263
580	SYP	X	0.9968152866242	3	942	49048119, 49048123-49048124
581	CACNA1F	X	0.9989888776542	6	5934	49061598-49061600, 49061603-49061605
582	CLCN5	X	0.99959200326397	1	2451	49807001
583	FGD1	X	0.999306999307	2	2886	54497144-54497145
584	AR	X	0.96597900832429	94	2763	66765161-66765203, 66765209-66765216, 66766338, 66766345-66766347, 66766350, 66766356-66766359, 66766362-66766372, 66766375-66766384, 66766387, 66766390-66766394, 66766402-66766408
585	MED12	X	0.99265381083563	48	6534	70338645, 70338652, 70338698-70338703, 70344032-70344035, 70349616, 70352022, 70352031, 70352038-70352040, 70356293-70356313, 70360606-70360611, 70361194-70361196
586	GJB1	X	0.99295774647887	6	852	70444366-70444367, 70444378-70444381
587	TAF1	X	0.98011263639564	113	5682	70586165-70586272, 70586278, 70586281-70586284
588	SLC16A2	X	0.99077090119435	17	1842	73641385, 73641391-73641394, 73641400-73641410, 73641415
589	ATRX	X	0.99839550742078	12	7479	76812977, 76845348, 76874274, 76912097-76912099, 76912105, 76912125-76912128, 76912131
590	ATP7A	X	0.99844548079058	7	4503	77258570-77258575, 77276526
591	BRWD3	X	0.98465520428915	83	5409	79960293, 79965000-79965038, 79991546, 79991559-79991564, 79991584-79991587, 80049150, 80064940-80064970
592	ZNF711	X	0.99912510936133	2	2286	84519386, 84525711
593	CHM	X	0.99847094801223	3	1962	85166266-85166267, 85282545
594	COL4A5	X	0.999011466983	5	5058	107834419-107834423
595	LAMP2	X	0.99838187702265	2	1236	119590574-119590575
596	CUL4B	X	0.99744711889132	7	2742	119694117-119694119, 119694123-119694126
597	XIAP	X	0.99531459170013	7	1494	123040945-123040951
598	SH2D1A	X	0.99741602067183	1	387	123505241
599	PHF6	X	0.99908925318761	1	1098	133549141
600	ZIC3	X	0.97079772079772	41	1404	136651103-136651143
601	SOX3	X	0.99925428784489	1	1341	139585918
602	AFF2	X	0.99974593495935	1	3936	148062273
603	SLC6A8	X	0.87316561844864	242	1908	152954046, 152954080-152954209, 152954216-152954238, 152956766-152956772, 152958541-152958543, 152958546, 152959011-152959017, 152959470-152959472, 152959618-152959651, 152960082, 152960268-152960299
604	ABCD1	X	0.94593386952636	121	2238	153008466-153008487, 153008675-153008688, 153008705-153008711, 153008785-153008791, 153008981-153008987, 153009024-153009033, 153009079-153009089, 153009113-153009155
605	MECP2	X	0.95858383433534	62	1497	153363061-153363122
606	OPN1LW	X	0.90319634703196	106	1095	153418427-153418471, 153418511-153418544, 153421798-153421824
607	OPN1MW	X	0.9013698630137	108	1095	153455595-153455601, 153455641-153455669, 153458928-153458999
608	OPN1MW	X	0.87945205479452	132	1095	153492701-153492719, 153492759-153492792, 153496046-153496124
609	G6PD	X	0.99023199023199	16	1638	153762666-153762681

Effect rank	Variant	Phase/ Zygosity	Allele freq	Impact	Evaluation	Summary / Info
5	COL9A3-G17E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
5	COL9A3-R103W	het unknown	0.016	Dominant pathogenic	Moderate clinical importance, likely	Carriers of this collagen variant are associated with having a significantly increased risk of lumbar disc disease (~11% total risk compared to a typical risk of 4%).
5	COL9A3-A435E	het unknown	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
3	LOXL1-R141L	homozygous		Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.998 (probably damaging)
2.5	TP53-P72R	homozygous	0.550	Unknown pathogenic	Low clinical importance, uncertain	This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x increased risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x decreased risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
2.5	SP110-L425S	homozygous	0.875	Unknown pathogenic	Low clinical importance, uncertain	This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
2.5	SP110-G299R	homozygous	0.822	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5	SP110-A206V	het unknown	0.142	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5	SP110-W112R	homozygous	0.945	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5	COL4A1-Q1334H	homozygous	0.292	Dominant pathogenic	Low clinical importance, likely	This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.
2.5	COL4A1-T555P	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5	TGFB1-R25P	het unknown	0.036	Complex/Other pathogenic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5	TGFB1-P10L	het unknown	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2	XYLT1-A115S	het unknown	0.009	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.036 (benign)
2	ITGAM-R77H	het unknown	0.095	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.048 (benign)
2	ITGAM-A859V	het unknown	0.136	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
2	ITGAM-P1147S	het unknown	0.141	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
2	CST3-A25T	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown
2	NEFL-S472Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
2	CILP-Q979R	homozygous	0.986	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
2	CILP-K575E	homozygous	0.974	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
2	CILP-I395T	homozygous	0.491	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
2	CHIT1-A442G	het unknown	0.092	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
2	CHIT1-G102S	homozygous	0.268	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests
2	TLR4-D299G	het unknown	0.062	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign)
2	TLR4-T399I	het unknown	0.039	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.016 (benign)
1.5	NPC1-I858V	homozygous	0.480	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1.5	NPC1-M642I	homozygous	0.863	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5	NPC1-H215R	homozygous	0.222	Complex/Other protective	Low clinical importance, likely	This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).
1.5	PRNP-M129V	homozygous	0.258	Complex/Other protective	Low clinical importance, well-established	This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.
1.5	KCNJ11-V337I	homozygous	0.761	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5	KCNJ11-K23E	homozygous	0.711	Unknown protective	Low clinical importance, likely	This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.
1.25	RNASEL-D541E	het unknown	0.470	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1.25	RNASEL-R462Q	het unknown	0.208	Complex/Other pathogenic	Low clinical importance, uncertain	Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.
1	IL13-Q144R	homozygous	0.766	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	SLC22A4-I306T	homozygous	0.588	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
1	SLC22A4-L503F	homozygous	0.142	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	PIK3R6-L609Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AKAP10-I646V	het unknown	0.434	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	AKAP10-R249H	het unknown	0.427	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	C17orf103-C16Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SEBOX-L207S	homozygous	0.913	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	SEBOX-W10Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ABCC3-R1297H	homozygous	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
1	BLMH-I443V	het unknown	0.241	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	ZNF167-N494Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CCDC66-D5Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CCDC66-Q383R	homozygous	0.934	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CCDC66-R460Q	het unknown	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
1	CCDC66-S606SS	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	PLIN5-R350C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	PLIN5-R306W	homozygous	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
1	PLIN5-C255R	homozygous	0.888	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.031 (benign)
1	INSR-A2G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	HSH2D-S223Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ICAM1-G241R	het unknown	0.060	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.948 (probably damaging)
1	ICAM1-K469E	het unknown	0.297	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	CTDP1-S61A	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TGIF1-P83Shift	het unknown	0.139	Complex/Other pathogenic	Low clinical importance, uncertain	Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.
1	TGIF1-P292S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ADH1B-H48R	homozygous	0.678	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	AX746903-T82Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HTT-G893R	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	HTT-V1064I	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HTT-Y2309H	het unknown	0.459	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HTT-V2786I	het unknown	0.193	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ADD1-G460W	het unknown	0.232	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.995 (probably damaging)
1	ADD1-S617C	het unknown	0.334	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	RYK-S95N	het unknown	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	RYK-L17Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CPN2-V536M	homozygous	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
1	CPN2-Q509R	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	CPN2-A305T	homozygous	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests
1	PKD1L2-M2313I	homozygous	0.883	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-S2207R	homozygous	0.985	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-S2137F	homozygous	0.870	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-L2117I	homozygous	0.248	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-Y2079Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	PKD1L2-A2054T	homozygous	0.185	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-Y2048S	homozygous	0.169	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-P2045L	homozygous	0.442	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-Q2035R	homozygous	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-M1866V	homozygous	0.957	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-G1847R	het unknown	0.373	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-Q1701H	het unknown	0.294	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-N1330D	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-S1326P	homozygous	0.734	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-G1268S	het unknown	0.169	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-T1048A	het unknown	0.679	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-Q999H	het unknown	0.266	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-R998C	het unknown	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-G785C	het unknown	0.193	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-L711P	het unknown	0.805	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-R636H	het unknown	0.134	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-P512L	het unknown	0.751	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-K416Q	het unknown	0.788	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-E221G	homozygous	0.708	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-Q220*	homozygous	0.173	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Nonsense mutation
1	PKD1L2-L173S	het unknown	0.419	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-G129D	het unknown	0.134	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-Q120L	homozygous	0.451	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-K77N	het unknown	0.319	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-W73R	homozygous	0.549	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PKD1L2-V20A	homozygous	0.548	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CYBA-Y72H	homozygous	0.649	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	PLEKHA2-P389Shift	homozygous	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	TMPO-Q599E	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	ATG9B-A765Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KCP-D621V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	KCP-H313Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KCP-A16Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KCNH2-K897T	het unknown	0.098	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1	KRT83-H493Y	homozygous	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	KRT83-I279M	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	VDR-M1T	homozygous	0.687	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1	AK094914-K152N	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	AK094914-T33Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AK094914-M25Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HABP2-T50M	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	B3GNT6-L316Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	B3GNT6-L335Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ATM-S333F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ATM-D1853N	homozygous	0.066	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ATM-N1983S	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CLECL1-S52Shift	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ABCA1-K1587R	het unknown	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	ABCA1-R219K	homozygous	0.498	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
1	ABCB1-N21D	het unknown	0.044	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	MLXIPL-A358V	het unknown	0.134	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.345 (possibly damaging)
1	MLXIPL-Q241H	het unknown	0.090	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging)
1	NR_027242-N339Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027242-C222Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027242-L114P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NR_027242-Q97Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027242-L22P	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	HLA-DQA1-L8M	homozygous	0.457	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-A11T	het unknown	0.085	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-C34Y	het unknown	0.547	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-F41S	homozygous	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-Q57E	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-E63G	het unknown	0.233	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-A68V	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-RW70CL	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-RW70CL	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-EF73VL	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-EF73VL	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-S75R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-SK75RQ	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-K76R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-G78R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-G79Del	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-G79Del	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-G84F	homozygous	0.122	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-R87T	homozygous	0.170	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-M89I	homozygous	0.200	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-A92L	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-IM98SL	het unknown	0.066	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-IM98SL	het unknown	0.066	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-Y103S	homozygous	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-Q152H	homozygous	0.526	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CMAH-V478A	homozygous	0.836	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CMAH-R310P	homozygous	0.078	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CMAH-N272Shift	homozygous	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CMAH-R241W	homozygous	0.078	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CMAH-I181T	homozygous	0.078	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CMAH-G131S	homozygous	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZFPM1-R22G	het unknown	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZFPM1-E444Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZFPM1-L446Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	C19orf55-G398Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NPRL3-L489Shift	homozygous	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HLA-DQB1-V235I	het unknown	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-A172T	homozygous	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-G157A	homozygous	0.539	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-G45A	homozygous	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-F41Y	homozygous	0.789	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-LL28PV	homozygous	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-S27T	homozygous	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-V15A	homozygous	0.053	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	AIM1-Q293P	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	AIM1-C491R	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.091 (benign)
1	AIM1-E1196A	homozygous	0.935	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.015 (benign)
1	AIM1-C1395Y	het unknown	0.243	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.958 (probably damaging)
1	FAM20C-I320Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	FAM20C-N564D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	EFHC1-I619L	homozygous	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
1	DYX1C1-E417*	het unknown	0.354	Unknown pathogenic	Low clinical importance, uncertain	One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.
1	ADAMTSL3-H146R	het unknown	0.706	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.04 (benign)
1	ADAMTSL3-L290V	homozygous	0.833	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ADAMTSL3-V661L	homozygous	0.711	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	ADAMTSL3-L869F	het unknown	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.148 (benign)
1	ADAMTSL3-T1660I	het unknown	0.106	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
1	CUL7-Q813R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	GPR98-L1093F	het unknown	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	GPR98-V1951I	het unknown	0.820	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	GPR98-N1985D	het unknown	0.259	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1	GPR98-L2004F	het unknown	0.341	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1	GPR98-V2203A	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	GPR98-N2584S	het unknown	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	GPR98-G3248D	het unknown	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	GPR98-E3471K	het unknown	0.834	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	GPR98-E5344G	homozygous	0.903	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1	GPR98-V5427M	homozygous	0.918	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-M1764V	het unknown	0.273	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-K925E	het unknown	0.196	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-H865R	het unknown	0.238	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-K858R	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-Q534R	homozygous	0.991	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	PADI6-V343Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	VSIG10L-Q860Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	VSIG10L-R592Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-M356I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-N3T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	DGKK-L1014Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KRTAP7-1-Y17Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	TCEAL6-Q175Shift	homozygous	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HADHB-T2TT	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	HNMT-T105I	het unknown	0.112	Complex/Other pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.821 (possibly damaging)
1	C20orf54-I303V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	C20orf54-T278M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	C20orf54-P267L	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	C20orf54-I74M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	FAM58A-Q15Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
1	FAM58A-G4Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
1	COL18A1-T379M	het unknown	0.325	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
1	COL18A1-E716Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
1	COL18A1-V1076I	het unknown	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	COL18A1-PGP1362Del	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	TTN-Q31346H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I23649T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-A19840P	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-R9852H	het unknown	0.198	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-G9378R	het unknown	0.395	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I8474T	het unknown	0.114	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-P7650L	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-A7111E	het unknown	0.421	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-A5710V	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S5190N	het unknown	0.058	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S3419N	het unknown	0.850	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V3261M	het unknown	0.840	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-K3154R	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-G2392S	het unknown	0.060	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S1295L	homozygous	0.881	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-K1201E	het unknown	0.519	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	RAB40A-H45L	homozygous	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.907 (probably damaging)
1	ZNF761-L47Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZNF761-I122S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF761-V168I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SEPN1-C108Y	homozygous	0.789	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	SEPN1-N467K	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HRNR-L2688S	homozygous	0.939	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-S799T	het unknown	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-R664Q	het unknown	0.568	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-Y517C	het unknown	0.185	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-G492R	het unknown	0.588	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-E473G	homozygous	0.951	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-Q376R	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-R85H	het unknown	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.078 (benign)
1	HRNR-M1Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	APOE-C130R	het unknown	0.010	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests
1	IL6R-D358A	homozygous	0.266	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.911 (probably damaging)
1	PTPN22-W620R	homozygous	0.970	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	SCARF2-A832G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-A814G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-DV772EL	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-E764Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCARF2-P747Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCARF2-A745Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.75	ALG3-F200Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
0.75	ALG3-I107V	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.75	ABCC6-R1268Q	het unknown	0.142	Unknown pharmacogenetic	Low clinical importance, uncertain	This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.
0.75	ABCC6-M848V	homozygous	0.954	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	ABCC6-H632Q	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	ABCC6-V614A	het unknown	0.354	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	MTHFR-A222V	het unknown	0.250	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5	CLCN1-G118W	homozygous	0.995	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CLCN1-P727L	homozygous	0.325	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLNC-R1567Q	het unknown	0.074	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	AKAP9-M463I	het unknown	0.376	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AKAP9-K1335KQ	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AKAP9-N2792S	het unknown	0.271	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AKAP9-P2979S	homozygous	0.997	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DBT-S384G	homozygous	0.869	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MAST2-D388E	homozygous	0.882	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MAST2-I659M	het unknown	0.482	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.033 (benign)
0.5	MAST2-D1551G	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging)
0.5	ELN-G422S	homozygous	0.225	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GTF2I-N440S	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	DPYD-I543V	het unknown	0.199	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DPYD-R29C	homozygous	0.731	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COL1A2-P549A	homozygous	0.907	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CYP3A7-R409T	homozygous	0.669	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TGFBR3-H155R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.879 (probably damaging)
0.5	GPR37-T589M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	ARMC10-R29W	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	NPSR1-N107I	homozygous	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	NPSR1-Q344R	het unknown	0.309	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NM_001039487-L108Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NM_001039487-L108Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NM_001039487-R78K	het unknown	0.040	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ROS1-R167Q	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.983 (probably damaging)
0.5	LAMA2-R619H	het unknown	0.300	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LAMA2-V1138M	het unknown	0.142	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LAMA2-R1844S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LAMA2-A2585V	het unknown	0.594	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EPB41L2-E998Q	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging)
0.5	PPM1J-G488R	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	PPM1J-V236I	homozygous	0.974	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LCA5-G656D	homozygous	0.377	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LCA5-D26A	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	LCA5-L24S	homozygous	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	AMPD1-K287I	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5	CLIC5-P257H	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.915 (probably damaging)
0.5	PKHD1-L1870V	homozygous	0.905	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-A1262V	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-R760C	homozygous	0.318	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	EYS-N1902I	het unknown	0.316	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-L1748F	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-L1419S	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-L852P	het unknown	0.655	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-G631S	het unknown	0.596	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	BCLAF1-S209C	het unknown	0.004	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.96 (probably damaging)
0.5	BCLAF1-G66A	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SYNE1-T8687I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-G8323A	het unknown	0.310	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-F7302V	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-L5015M	het unknown	0.866	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-S4596T	het unknown	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-K4121R	het unknown	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-E4060D	het unknown	0.539	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-A2795V	het unknown	0.260	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-V1035A	het unknown	0.632	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-R843C	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	EPDR1-A36Shift	het unknown	0.012	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CCM2-V120I	het unknown	0.091	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	EGFR-I342L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EGFR-R521K	het unknown	0.259	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TMEM176A-R109W	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	TMEM176A-T122A	homozygous	0.903	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TMEM176A-L187F	het unknown	0.145	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.95 (probably damaging)
0.5	TMEM176A-T208A	homozygous	0.774	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	FKBP9-F71C	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	SLC22A2-S270A	homozygous	0.876	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	COL11A1-S1547P	homozygous	0.752	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL11A1-P1335L	homozygous	0.479	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-V1023A	homozygous	0.193	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T1038A	homozygous	0.747	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T1847I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-N2641S	homozygous	0.367	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-M4172V	homozygous	0.334	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRR15-P124H	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	HGSNAT-A615T	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	BMP8B-R389H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.97 (probably damaging)
0.5	PTF1A-S263P	homozygous	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5	PTCHD3-*768Q	homozygous	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PTCHD3-I584M	homozygous	0.963	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PTCHD3-M521T	homozygous	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PTCHD3-D473G	homozygous	0.499	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging)
0.5	PTCHD3-C407R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	PPYR1-A99S	het unknown	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.03 (benign)
0.5	PPYR1-R240C	het unknown	0.220	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.332 (possibly damaging)
0.5	PPYR1-V276M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.889 (probably damaging)
0.5	MAMDC4-P397S	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	MAMDC4-W908G	het unknown	0.778	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SNAPC4-H799Q	het unknown	0.378	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SNAPC4-D40G	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	CDK5RAP2-V1540L	het unknown	0.714	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDK5RAP2-E289Q	homozygous	0.801	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MAPKAP1-M193V	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging)
0.5	SETX-I2587V	homozygous	0.591	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SETX-C1554G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SETX-I1386V	homozygous	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SETX-G1252R	homozygous	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SETX-D1192E	homozygous	0.598	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNFRSF1B-M196R	het unknown	0.206	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	CHAT-A120T	het unknown	0.149	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CHAT-L243F	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	CHAT-V461M	homozygous	0.927	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PCDH15-R934Q	het unknown	0.283	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PCDH15-D440A	het unknown	0.343	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PCDH15-S19A	homozygous	0.174	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-M703V	het unknown	0.672	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-G428S	homozygous	0.771	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-T210M	het unknown	0.557	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	H6PD-D151A	het unknown	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.292 (possibly damaging)
0.5	H6PD-R453Q	het unknown	0.407	Recessive pathogenic	Low clinical importance, uncertain	This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).
0.5	ADRB1-G389R	homozygous	0.705	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CALHM1-L86P	homozygous	1.000	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PPRC1-D1513E	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.754 (possibly damaging)
0.5	PPRC1-R1514S	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.956 (probably damaging)
0.5	TYSND1-V291L	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.475 (possibly damaging)
0.5	TYSND1-P203L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.95 (probably damaging)
0.5	TYSND1-T65A	het unknown	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.123 (benign)
0.5	RNF207-N573S	het unknown	0.474	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RNF207-G603A	het unknown	0.165	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign)
0.5	DYDC2-P123R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	DYDC2-G143S	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	MYOF-F1400L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	TMEM82-L308Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	TMEM82-L309Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DFNB31-V783A	het unknown	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-H752Q	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-M613T	het unknown	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-R364H	homozygous	0.968	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PEX2-C184R	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRCC1-H69Q	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	LRRCC1-T210A	het unknown	0.234	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	CNGB3-I307V	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CNGB3-C234W	homozygous	0.939	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GGH-A31T	het unknown	0.198	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	GGH-C6R	het unknown	0.088	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TTBK1-G623A	homozygous	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TTBK1-P649R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.865 (probably damaging)
0.5	SPOCD1-G813R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	SPOCD1-Q355R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.509 (possibly damaging)
0.5	SPOCD1-T349A	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.312 (possibly damaging)
0.5	SPOCD1-T109A	homozygous	0.682	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.004 (benign)
0.5	SPOCD1-R71W	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.974 (probably damaging)
0.5	MCPH1-R171S	homozygous	0.865	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-D314H	homozygous	0.648	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-D392G	homozygous	0.979	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-T682N	het unknown	0.148	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	NAT2-I114T	het unknown	0.220	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	NAT2-R197Q	het unknown	0.272	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	NAT2-R268K	het unknown	0.675	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	FUCA1-Q286R	het unknown	0.205	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5	FUCA1-P10R	het unknown	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests
0.5	FUCA1-R2W	het unknown	0.079	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5	HSPG2-V3640I	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-A1503V	homozygous	0.777	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-N765S	homozygous	0.896	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-M638V	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TMEM67-I604V	homozygous	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KIF24-S837F	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.006 (benign)
0.5	KIF24-W218L	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	KIF24-M140V	het unknown	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.091 (benign)
0.5	KIF24-R109G	het unknown	0.065	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.008 (benign)
0.5	ROR2-V819I	homozygous	0.798	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FAM22F-P387S	het unknown	0.014	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	FAM22F-R176G	homozygous	0.903	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RNF186-E139Q	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.902 (probably damaging)
0.5	RNF186-A23T	het unknown	0.300	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.385 (possibly damaging)
0.5	DOCK8-A22V	het unknown	0.291	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5	DOCK8-D63N	het unknown	0.079	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5	DOCK8-P97T	het unknown	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5	DOCK8-A597V	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5	RECQL4-R766Shift	homozygous	0.278	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview
0.5	RECQL4-S92P	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC30A8-R325W	het unknown	0.225	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	TRMT12-W28R	het unknown	0.615	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TRMT12-D195Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CYP11B2-V386A	het unknown	0.029	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PLEC-A3171V	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-R2969H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-S2791P	het unknown	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-A2242V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-A2194V	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-H1459R	het unknown	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-R1386Q	het unknown	0.276	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-A641V	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R3738H	het unknown	0.134	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	FLG-V3179G	het unknown	0.339	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLG-D2936G	het unknown	0.138	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-Q2574E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-G2545R	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLG-H2507Q	het unknown	0.318	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLG-L2481S	het unknown	0.222	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLG-K2444E	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLG-S2366T	het unknown	0.125	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	FLG-VG2225AV	het unknown	0.028	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-L2224Q	het unknown	0.028	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R2139G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-Y2119H	het unknown	0.119	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-A2108V	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R1891Q	het unknown	0.061	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-A1805V	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R1699C	het unknown	0.428	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R1684H	het unknown	0.190	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-S1482Y	het unknown	0.243	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R1376G	het unknown	0.170	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R1360H	het unknown	0.164	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-A1167G	het unknown	0.425	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-P478S	het unknown	0.318	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLG-G444R	het unknown	0.319	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	FLG-G332V	het unknown	0.227	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	CASQ2-V76M	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.551 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	CASQ2-T66A	het unknown	0.427	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	EVC-Y258H	homozygous	0.721	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5	EVC-T449K	homozygous	0.871	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EVC-R576Q	het unknown	0.274	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5	WFS1-V333I	homozygous	0.889	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WFS1-R611H	homozygous	0.442	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	SPATA18-T145I	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.902 (probably damaging)
0.5	SPATA18-S227P	het unknown	0.311	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.27 (possibly damaging)
0.5	IDUA-H33Q	homozygous	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MUC20-D322H	het unknown	0.711	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MUC20-T345Shift	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	MUC20-R495W	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC12A8-R664Q	homozygous	0.647	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.036 (benign)
0.5	SLC12A8-I281V	homozygous	0.993	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	SLC12A8-P266L	homozygous	0.951	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC12A8-R181C	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	ALK-D1529E	het unknown	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALK-I1461V	homozygous	0.982	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GFM1-V215I	het unknown	0.588	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5	GFM1-V664I	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.384 (possibly damaging), Testable gene in GeneTests
0.5	C2orf71-S1225SS	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	C2orf71-L792V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	UGT2B15-K523T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	UGT2B15-Y85D	homozygous	0.500	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	BMP3-Y67N	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.987 (probably damaging)
0.5	BMP3-R192Q	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.334 (possibly damaging)
0.5	BMP3-L205F	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.17 (benign)
0.5	EXO1-N279S	het unknown	0.007	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	EXO1-H354R	homozygous	0.664	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.119 (benign)
0.5	EXO1-V458M	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EXO1-E670G	homozygous	0.696	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.025 (benign)
0.5	EXO1-R723C	homozygous	0.915	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.512 (possibly damaging)
0.5	EXO1-P757L	het unknown	0.243	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.998 (probably damaging)
0.5	TLR3-L412F	het unknown	0.200	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	MTRR-K377R	homozygous	0.260	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MTRR-H622Y	homozygous	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WDR17-A814T	homozygous	0.941	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	WDR17-C913S	het unknown	0.180	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.526 (possibly damaging)
0.5	WDR17-R1157Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	WDR17-A1215T	het unknown	0.265	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.01 (benign)
0.5	TPO-A373S	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	TPO-S398T	homozygous	0.684	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5	TPO-T725P	het unknown	0.524	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TPO-V847A	het unknown	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	PKD2-R28P	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	HS1BP3-A388T	homozygous	0.155	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.012 (benign)
0.5	HS1BP3-P348R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.916 (probably damaging)
0.5	HS1BP3-V260M	homozygous	0.389	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HADH-L86P	homozygous	0.859	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CFI-T300A	homozygous	0.957	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC4A5-H253Y	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.5	HGD-Q80H	homozygous	0.742	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ITGA6-A380T	homozygous	0.253	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-T3069I	het unknown	0.364	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-A3012P	homozygous	0.843	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-M2988V	het unknown	0.042	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-A2960Del	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-M2927T	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-D563G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PER2-G1244E	het unknown	0.154	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PER2-V903I	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.884 (probably damaging)
0.5	COL4A3-G43R	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-L141P	het unknown	0.760	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-E162G	het unknown	0.764	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-P574L	homozygous	0.358	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-R1767Q	het unknown	0.491	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-Q1578R	homozygous	0.968	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-E1365D	homozygous	0.723	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-V1002M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-R723K	het unknown	0.770	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-V350M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALS2-V368M	homozygous	0.869	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CTLA4-T17A	homozygous	0.463	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.5	ABCA12-S777T	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SMARCAL1-E377Q	het unknown	0.093	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.318 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	DYNC1I2-R613W	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.996 (probably damaging)
0.5	DYNC1I2-R616*	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	AGXT-P11L	het unknown	0.142	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	AGXT-I340M	het unknown	0.096	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GLI2-A1156S	homozygous	0.536	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GLI2-D1306N	homozygous	0.595	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SNRNP200-M387V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KBTBD8-F179L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	DRD3-G9S	homozygous	0.482	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CCDC74B-V309A	het unknown	0.018	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CCDC74B-P201S	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	CCDC74B-H149R	homozygous	0.956	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SCN5A-H558R	het unknown	0.215	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ANO7-D70N	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.955 (probably damaging)
0.5	ANO7-A494V	het unknown	0.212	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TMEM43-K168N	homozygous	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.5	TMEM43-M179T	homozygous	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-I6534V	homozygous	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-A6277P	het unknown	0.691	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-R4389T	het unknown	0.724	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-K2613N	homozygous	0.138	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-V1491M	homozygous	0.453	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-Y1301H	homozygous	0.668	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-K1027N	homozygous	0.476	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	XPC-Q939K	homozygous	0.683	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MTR-D919G	het unknown	0.262	Complex/Other protective	Low clinical importance, uncertain	This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption.
0.5	EPHX1-Y113H	het unknown	0.290	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging)
0.5	ZFP57-R187C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DDR2-M441I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HLA-H-G217A	het unknown	0.074	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNN-T94M	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.948 (probably damaging)
0.5	TNN-P930L	het unknown	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (probably damaging)
0.5	TNN-T941M	het unknown	0.291	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.991 (probably damaging)
0.5	FLT4-R1324L	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLT4-H890Q	homozygous	0.355	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	FLT4-T494A	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5	NIPAL4-R213G	het unknown	0.505	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	NIPAL4-S453L	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MSX2-M129T	homozygous	0.716	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PROP1-N20S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GRM6-A807V	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5	GRM6-Q59P	het unknown	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HLA-L-H17R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HLA-L-I30V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HLA-L-R38Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	HLA-L-A142V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HLA-L-W144*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	HLA-L-C172Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MICA-W37G	homozygous	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-Y59C	homozygous	0.293	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-V152M	homozygous	0.314	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-E196K	homozygous	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-I236T	homozygous	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-T238S	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MICA-R274Q	homozygous	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MICA-C329R	homozygous	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-P330L	homozygous	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	COL11A2-P1316T	het unknown	0.072	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL11A2-P894L	het unknown	0.088	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	TULP1-K261N	homozygous	0.805	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TULP1-T67R	homozygous	0.877	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SEC22B-T81K	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SEC22B-R107Q	het unknown	0.002	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SEC22B-C129R	het unknown	0.085	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SEC22B-R131*	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	SEC22B-H189R	het unknown	0.508	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TCHHL1-Q656*	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	COL3A1-A698T	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL3A1-H1353Q	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HSPA1L-E602K	homozygous	0.225	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.5	HSPA1L-T493M	homozygous	0.868	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.5	CYP21A2-R103K	homozygous	0.216	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CYP21A2-I173N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-G2518E	homozygous	0.658	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-H1161R	homozygous	0.568	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SHE-T197M	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (probably damaging)
0.5	KIF4B-R580L	het unknown	0.685	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KIF4B-R680H	het unknown	0.176	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
0.5	KIF4B-V755I	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.877 (probably damaging)
0.5	KIF4B-I834Shift	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	KIF4B-R1029H	het unknown	0.119	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.043 (benign)
0.5	FAT2-P4117L	het unknown	0.772	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-M3631I	het unknown	0.752	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.129 (benign)
0.5	FAT2-L3514S	het unknown	0.765	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-F2428S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-Y1181H	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-P1164L	het unknown	0.361	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.005 (benign)
0.5	FAT2-G1004S	het unknown	0.400	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-F686S	het unknown	0.420	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-R574C	het unknown	0.416	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.967 (probably damaging)
0.5	FAT2-V444A	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.968 (probably damaging)
0.5	USH2A-E3411A	het unknown	0.638	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-I2106T	het unknown	0.629	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-R1486K	homozygous	0.646	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5	USH2A-A125T	homozygous	0.777	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AP3B1-V585E	homozygous	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	BAG3-C151R	het unknown	0.065	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CCNO-I219Shift	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	GHR-P458PQP	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	GHR-I544L	homozygous	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5	NVL-V404I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.882 (probably damaging)
0.5	DNAH5-I4450V	homozygous	0.481	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-A4134V	het unknown	0.450	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-T3791I	het unknown	0.053	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-T558A	het unknown	0.395	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-H12Q	het unknown	0.896	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	IL7R-I66T	homozygous	0.597	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	IL7R-V138I	homozygous	0.689	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	IL7R-T244I	het unknown	0.150	Unknown protective	Low clinical importance, likely	The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).
0.5	IL7R-I356V	het unknown	0.214	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	RAB3GAP2-S1092T	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.924 (probably damaging)
0.5	APC-V1822D	homozygous	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FBN2-S2580L	het unknown	0.091	Dominant benign	Low clinical importance, uncertain	Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.
0.5	FBN2-V965I	homozygous	0.714	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NPHS2-R229Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5	ADRB2-G16R	het unknown	0.477	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	ADRB2-E27Q	het unknown	0.773	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	SLC26A2-I574T	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TCOF1-P1139R	homozygous	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PCDHB16-R202Q	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.983 (probably damaging)
0.5	PCDHB16-T482I	het unknown	0.298	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	PCDHB16-Q638H	het unknown	0.207	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PCDHB16-R652C	het unknown	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.02 (benign)
0.5	PCDHB16-A710V	het unknown	0.242	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	ASPM-Y2494H	homozygous	0.992	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NFASC-T159M	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.584 (possibly damaging)
0.5	NFASC-R534K	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.056 (benign)
0.5	NFASC-I566V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.912 (probably damaging)
0.5	NFASC-I971M	het unknown	0.380	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SRA1-V110RL	homozygous	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NDUFA2-G9P	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AX746964-G175Shift	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	AX746964-K166I	het unknown	0.628	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CDH23-N1349D	homozygous	0.772	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-A1572T	homozygous	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-R1801Q	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-E2041K	homozygous	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-R2355Q	homozygous	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-P2377L	homozygous	0.338	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-F3122L	het unknown	0.055	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	STRC-Q84R	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYH8-W1692R	het unknown	0.481	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYH8-A636V	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ABHD15-R448Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.996 (probably damaging)
0.5	ABHD15-T334A	het unknown	0.795	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	JUP-M697L	homozygous	0.520	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DHX58-N461S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.97 (probably damaging)
0.5	DHX58-Q425R	het unknown	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MFSD6L-R486H	het unknown	0.191	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.913 (probably damaging)
0.5	MFSD6L-L85I	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging)
0.5	PER1-A962P	homozygous	0.709	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.212 (possibly damaging)
0.5	PER1-RA568QS	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PER1-P37S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.891 (probably damaging)
0.5	ENO3-N71S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TACC2-V170I	het unknown	0.225	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TACC2-L830F	het unknown	0.204	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TACC2-A1066T	het unknown	0.185	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TACC2-W1103R	homozygous	0.964	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	TACC2-A1425T	het unknown	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TACC2-E1916K	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.98 (probably damaging)
0.5	TACC2-A2732T	het unknown	0.238	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TACC2-S2909T	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.981 (probably damaging)
0.5	NEURL4-R1406H	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.912 (probably damaging)
0.5	CHRNB1-E32G	homozygous	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	COL1A1-T1075A	homozygous	0.961	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	XYLT2-T801R	homozygous	0.225	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	RNF157-P676PWGP	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	RNF157-G208R	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.859 (probably damaging)
0.5	RAB40B-P263R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	LPIN2-E601K	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.042 (benign), Testable gene in GeneTests with associated GeneReview
0.5	LAMA3-N2815K	het unknown	0.130	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LAMA3-S2834G	homozygous	0.993	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TSEN54-E4D	homozygous	0.675	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TSEN54-K347N	homozygous	0.430	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	TSEN54-A437V	homozygous	0.515	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MIF4GD-Q126Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SEPT4-E311V	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.856 (probably damaging)
0.5	BRIP1-S919P	homozygous	0.652	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRIP1-A406S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCN4A-N1376D	het unknown	0.604	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCN4A-S524G	homozygous	0.938	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CD300C-T71I	het unknown	0.003	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging)
0.5	DNAI2-A558T	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CTNS-T260I	homozygous	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ANKRD11-P2263S	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.979 (probably damaging)
0.5	ANKRD11-A2023P	het unknown	0.036	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NR2E3-R77Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NR2E3-E140G	het unknown	0.093	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NR2E3-M163T	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NR2E3-T318Shift	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift, Testable gene in GeneTests
0.5	HEXA-I436V	homozygous	0.748	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC28A1-V189I	homozygous	0.313	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CACNA1H-Q163H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	CACNA1H-M313V	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.006 (benign)
0.5	CACNA1H-A332T	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CACNA1H-R1871Q	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.027 (benign)
0.5	CACNA1H-R2005C	het unknown	0.061	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
0.5	CACNA1H-R2077H	het unknown	0.738	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	PIF1-I640N	het unknown	0.209	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PIF1-E49*	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	APH1B-T27I	het unknown	0.018	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	SLC28A2-P22L	homozygous	0.248	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC28A2-S75R	homozygous	0.253	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SLC28A2-Y652F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	FBN1-C472Y	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USP8-A348T	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	USP8-D443G	het unknown	0.042	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.916 (probably damaging)
0.5	TRPM7-T1482I	het unknown	0.065	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.017 (benign)
0.5	TPSG1-T239I	het unknown	0.878	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	TPSG1-R193H	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.091 (benign)
0.5	TPSG1-S138F	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.941 (probably damaging)
0.5	PKD1-D3239H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-G2931S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-H2638R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-T2582M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-V1339M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC7A6OS-Y220C	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	SLC7A6OS-G45D	het unknown	0.709	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HP-D70N	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HP-K71E	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	ZFHX3-Q3204Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ZFHX3-Q2014H	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.889 (probably damaging)
0.5	ZFHX3-V777A	homozygous	0.810	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZFHX3-S72A	homozygous	0.516	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GCSH-S21L	homozygous	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CCDC135-D51N	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.927 (probably damaging)
0.5	CCDC135-V241E	het unknown	0.109	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	SALL1-V1275I	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OR2C1-G16S	het unknown	0.245	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OR2C1-C149W	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OR2C1-R229H	het unknown	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OR2C1-F273Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	AK311524-V28A	het unknown	0.903	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK311524-W181Shift	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SLX4-I718S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLX4-G83A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CD19-L174V	homozygous	0.876	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GSPT1-V100A	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	GSPT1-G92C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	MYO5B-L1055LL	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYO5B-T126A	homozygous	0.945	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ATP8B1-A1152T	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRODH-R521Q	homozygous	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRODH-A472T	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRODH-W185R	het unknown	0.826	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRODH-P19Q	het unknown	0.562	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NR_027052-R29H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NR_027052-T53Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NR_027052-Y63N	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HPS4-Q620H	homozygous	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	HPS4-H601Y	homozygous	0.807	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HPS4-V547M	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HPS4-L438V	homozygous	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HPS4-E224G	homozygous	0.779	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CHEK2-E493K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CHEK2-Y488H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-H237Q	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.088 (benign), Testable gene in GeneTests
0.5	PCNT-G704E	homozygous	0.855	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-V1038A	homozygous	0.847	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-I1639V	het unknown	0.383	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-N1841S	het unknown	0.221	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-R1953H	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5	PCNT-L2097P	het unknown	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5	PCNT-H2125P	het unknown	0.310	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-M2188R	het unknown	0.186	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-W2239R	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5	PCNT-Q2361R	het unknown	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5	PCNT-P2377L	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5	PCNT-A2549T	het unknown	0.237	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5	PCNT-R2753H	het unknown	0.055	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5	PCNT-Q2792R	het unknown	0.732	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5	YBEY-R150L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.989 (probably damaging)
0.5	TUBB1-Q43P	het unknown	0.007	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.877 (probably damaging)
0.5	KCNQ2-N780T	homozygous	0.509	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KCNE1-S38G	homozygous	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	C21orf2-R113Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	C21orf2-V111Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	FAM83F-R436G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.939 (probably damaging)
0.5	TTC38-A12V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.961 (probably damaging)
0.5	TTC38-F243L	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	TTC38-P281S	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.012 (benign)
0.5	RGAG1-W1200R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	HTR2C-C23S	het unknown	0.191	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.004 (benign)
0.5	FRMD7-R468H	het unknown	0.085	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-I230T	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-A233S	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-M236V	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ATP7A-E1350K	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BC112980-K147Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ARSA-R496H	het unknown	0.048	Unknown benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ARSA-T391S	homozygous	0.423	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ARSA-N350S	het unknown	0.241	Unknown benign	Low clinical importance, well-established	This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.
0.5	CSF2RA-R164Q	het unknown	0.011	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.296 (possibly damaging), Testable gene in GeneTests
0.5	ASMTL-*622Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ASMTL-V458M	homozygous	0.214	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.098 (benign)
0.5	RPGR-VEGE1025Del	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DMD-R2937Q	homozygous	0.899	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMD-K2366Q	het unknown	0.152	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	DMD-R1745H	homozygous	0.387	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	DMD-D882G	homozygous	0.727	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	STX16-R148Q	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.622 (possibly damaging), Testable gene in GeneTests
0.5	SALL4-L507R	het unknown	0.328	Dominant not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5	NOTCH3-A2223V	homozygous	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CPAMD8-Q1890R	het unknown	0.201	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CPAMD8-T1315I	het unknown	0.698	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CPAMD8-H593R	homozygous	0.639	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CPAMD8-D586E	homozygous	0.380	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CPAMD8-V369M	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CPAMD8-V355I	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CPAMD8-R341W	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	CPAMD8-M312T	homozygous	0.733	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	UNC13A-L1121P	homozygous	0.992	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	UNC13A-A53Shift	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ZNF708-H554R	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.994 (probably damaging)
0.5	ZNF708-E389K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ZNF708-R130Q	het unknown	0.227	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	ZNF708-K113E	het unknown	0.596	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	ZNF708-A71V	homozygous	0.901	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TSPAN16-S233Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ADAMTS10-H1101Q	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ADAMTS10-T134S	homozygous	0.910	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ADAMTS10-R62Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5	KISS1R-L364H	homozygous	0.875	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ADAT3-K53E	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.884 (probably damaging)
0.5	MPND-P423L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	PRR22-P182L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	NPHS1-E117K	homozygous	0.297	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5	PRX-G1132R	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRX-I921M	homozygous	0.261	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRX-V882A	homozygous	0.493	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ZNF480-C3Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ZNF480-P177S	het unknown	0.161	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.486 (possibly damaging)
0.5	DEFB126-Q55Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DEFB126-P106Shift	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DDRGK1-R164L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.979 (probably damaging)
0.5	FERMT1-R526K	homozygous	0.468	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	FERMT1-R255C	het unknown	0.069	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5	FERMT1-I160T	het unknown	0.106	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5	ZNF432-R533Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging)
0.5	HRC-R88C	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.974 (probably damaging)
0.5	ZNF224-M118V	homozygous	0.793	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF224-H162L	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging)
0.5	ZNF224-K640E	homozygous	0.593	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ERCC2-K751Q	het unknown	0.218	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ERCC2-D312N	het unknown	0.145	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SIX5-P635S	homozygous	0.533	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	SIX5-L556V	homozygous	0.833	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FUT2-W154*	het unknown	0.364	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	FUT2-G258S	het unknown	0.390	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.954 (probably damaging)
0.5	SYNGR4-R27W	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	NLRP1-M1184V	het unknown	0.433	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NLRP1-V1059M	het unknown	0.165	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.006 (benign)
0.5	NLRP1-V939M	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	NLRP1-L155H	het unknown	0.120	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.064 (benign)
0.5	ABCC8-A1369S	homozygous	0.755	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	A2ML1-E725K	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	A2ML1-D850E	homozygous	0.974	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	A2ML1-R1122W	homozygous	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	A2ML1-A1226Shift	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	A2ML1-H1229R	homozygous	0.949	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	A2ML1-M1257V	homozygous	0.803	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NR_028064-G139Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NR_028064-H92Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NR_028064-H49Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LIG4-T9I	het unknown	0.132	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.966 (probably damaging)
0.5	ATP7B-V1140A	homozygous	0.495	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATP7B-R952K	homozygous	0.481	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATP7B-K832R	homozygous	0.455	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	ATP7B-V456L	het unknown	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ATP7B-S406A	het unknown	0.355	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	TNFSF11-P36R	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.976 (probably damaging), Testable gene in GeneTests
0.5	SUCLA2-S199T	homozygous	0.722	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CELF1-Y363Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CELF1-Q260Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	PEX16-V116I	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WDHD1-P638A	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	SIX6-H141N	homozygous	0.314	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SLC6A5-F124S	homozygous	0.803	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC6A5-A162G	homozygous	0.997	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TRIM9-L653F	homozygous	0.549	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TRIM9-V338I	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.877 (probably damaging)
0.5	AKAP6-E892K	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.968 (probably damaging)
0.5	AKAP6-A1492V	het unknown	0.318	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AKAP6-N2035D	het unknown	0.756	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.025 (benign)
0.5	FANCM-V878L	het unknown	0.268	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCM-I1460V	het unknown	0.078	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FANCM-P1812A	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	BRCA2-N289H	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRCA2-N991D	het unknown	0.069	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRCA2-V2466A	homozygous	0.954	Dominant benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MEN1-T546A	homozygous	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-T1056P	homozygous	0.838	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-C1506S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRK2-R50H	homozygous	0.927	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRK2-M2397T	het unknown	0.526	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	VWF-G2705R	het unknown	0.047	Unknown benign	Low clinical importance, uncertain	Probably benign, seems to be considered an uncommon polymorphism.
0.5	VWF-N1231T	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.24 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	VWF-V1229G	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	VWF-Q852R	het unknown	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	VWF-T789A	het unknown	0.355	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5	VWF-H484R	het unknown	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	CAPRIN2-M519V	homozygous	0.568	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	CAPRIN2-P114S	het unknown	0.038	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	HEBP1-E183D	het unknown	0.015	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.97 (probably damaging)
0.5	SLCO1B3-S112A	homozygous	0.646	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SLCO1B3-M233I	homozygous	0.659	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.131 (benign)
0.5	SNX19-L878R	homozygous	0.808	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SNX19-N753S	het unknown	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SNX19-L618F	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SNX19-V361L	homozygous	0.671	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KRT6C-V481I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	B3GALTL-E370K	homozygous	0.612	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MYO7A-S1666C	homozygous	0.610	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYO7A-L1954I	het unknown	0.552	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYO7A-V1956I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR109A-I156V	het unknown	0.011	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.909 (probably damaging)
0.5	STAB2-D2021N	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.926 (probably damaging)
0.5	KRT4-G160GAGGFGAGFGTGGFG	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TRPC6-A404V	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5	MS4A14-I56Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	MS4A14-N177Y	het unknown	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.981 (probably damaging)
0.5	MS4A14-G584R	het unknown	0.513	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	VPS18-F244Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	THBS1-L912Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DISP2-P47A	homozygous	0.754	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DISP2-C56S	homozygous	0.675	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
0.5	DISP2-Y375F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.882 (probably damaging)
0.5	NM_001080841-R42C	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NM_001080841-R85C	het unknown	0.209	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NM_001080841-R102*	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	MLH3-P844L	het unknown	0.298	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MLH3-N826D	homozygous	0.981	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	XRCC3-T241M	homozygous	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.188 (benign)
0.5	GALC-T641A	homozygous	0.892	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GALC-I562T	homozygous	0.446	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SMPD1-G508R	homozygous	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ZFYVE26-N1891S	homozygous	0.900	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ZFYVE26-T898S	het unknown	0.046	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5	TRPM5-G900S	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TRPM5-V335L	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	TRPM5-V254A	homozygous	0.794	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TRPM5-N235S	het unknown	0.542	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.375	TRIOBP-S217N	het unknown	0.413	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.375	TRIOBP-Q398Del	het unknown	0.308	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.375	TRIOBP-K413R	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375	TRIOBP-T715I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.375	TRIOBP-N863K	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.375	TRIOBP-F1187L	het unknown	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.375	TRIOBP-H1300R	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.375	TRIOBP-W1377R	het unknown	0.964	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25	DPAGT1-I393V	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MUSK-M413I	het unknown	0.134	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25	EDARADD-M9I	het unknown	0.726	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	IKBKAP-P1158L	het unknown	0.268	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	IKBKAP-C1072S	het unknown	0.270	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALMS1-S524SP	het unknown	0.578	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALMS1-V671G	het unknown	0.857	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALMS1-S2574N	het unknown	0.144	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALMS1-D2672H	het unknown	0.136	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALMS1-R4029K	het unknown	0.527	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	OTOF-R82C	het unknown	0.229	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25	MUC5AC-R55H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MUC5AC-V186Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	MUC5AC-S221R	het unknown	0.221	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-V497A	homozygous	0.977	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-F3655S	het unknown	0.701	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-T3734M	het unknown	0.100	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-G4658R	het unknown	0.011	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MUC5AC-P4913L	het unknown	0.276	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MTMR2-K3T	het unknown	0.216	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RYR2-Q2958R	het unknown	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	BPIL1-K31M	het unknown	0.163	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.508 (possibly damaging)
0.25	BPIL1-M406Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	BPIL1-G407R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TMPRSS5-G407Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	TMPRSS5-F369L	het unknown	0.820	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TRIB3-Q84R	het unknown	0.188	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	F9-T194A	het unknown	0.144	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25	FKTN-R203Q	het unknown	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25	PLOD1-A99T	het unknown	0.313	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PLOD1-A120S	het unknown	0.152	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.25	CYP2B6-Q172H	het unknown	0.295	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.009 (benign)
0.25	CYP2B6-K262R	het unknown	0.298	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NANOGP1-Q97*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	NANOGP1-N212S	homozygous	0.198	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ARMS2-R38*	het unknown	0.124	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests
0.25	DLL3-L218P	het unknown	0.650	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	F8-D1260E	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LRP2-I4210L	het unknown	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.993 (probably damaging)
0.25	LRP2-K4094E	het unknown	0.744	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	LRP2-A2872T	homozygous	0.327	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ABCB11-V444A	het unknown	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25	C10orf92-S2266G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C10orf92-C1851R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C10orf92-T1834Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	C10orf92-I191L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SULT1C4-D5E	het unknown	0.371	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DMPK-L423V	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SMPD4-R797W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SMPD4-R796Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SCN1A-A1056T	het unknown	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CD3EAP-K428Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CD3EAP-Q504K	het unknown	0.284	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign)
0.25	C9orf174-E919EEE	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C9orf174-S995C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C9orf174-Q1212*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	CDA-K27Q	het unknown	0.190	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	H19-G355R	het unknown	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	H19-V94I	het unknown	0.361	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	H19-W38R	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LCE4A-I18V	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	LCE4A-C48CCSSGGC	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	LCE4A-Q85Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	FLG2-S2382Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	FLG2-S2377*	het unknown	0.298	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Nonsense mutation
0.25	FLG2-C298S	het unknown	0.149	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FLG2-R276Q	het unknown	0.325	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FLG2-L41F	het unknown	0.364	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HIVEP3-T2338A	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HIVEP3-D2109A	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HIVEP3-A2023P	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HIVEP3-S1296Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	HIVEP3-H575R	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	COL6A2-S399N	het unknown	0.727	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL6A2-R680H	het unknown	0.389	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	FMO2-S195L	het unknown	0.465	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	KCNQ4-H455Q	het unknown	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25	COL6A1-R850H	het unknown	0.264	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FAM35A-S74C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FAM35A-S550C	het unknown	0.246	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.588 (possibly damaging)
0.25	FAM35A-T606Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ERCC6-G399D	het unknown	0.246	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ACO2-P560T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ACO2-T561Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ACO2-G654D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MYH9-I1626V	het unknown	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	USH1C-E819D	het unknown	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SBF2-Q1216E	het unknown	0.118	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25	ALX4-P102S	het unknown	0.217	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALX4-R35T	het unknown	0.393	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	TCHH-K1902Q	homozygous	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TCHH-E1616D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TCHH-L1613R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TCHH-L1258V	homozygous	0.490	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TCHH-E626Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	TCHH-P625A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TCHH-Q325E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TCHH-L63R	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	BMPR1A-P2T	het unknown	0.549	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SLC19A1-H27R	het unknown	0.447	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign)
0.25	KRTAP10-12-A182Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	KRTAP10-12-G226S	het unknown	0.200	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	C10orf113-D100H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C10orf113-R62G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C10orf113-S22Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CBR3-C4Y	het unknown	0.391	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign)
0.25	POLA2-G583R	het unknown	0.118	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.024 (benign)
0.25	ADRBK1-T23R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ADRBK1-A25Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	MMP9-Q279R	het unknown	0.477	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MMP9-R574P	homozygous	0.813	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	EP300-I997V	het unknown	0.176	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PINK1-N521T	het unknown	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFH-H402Y	het unknown	0.818	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	OR51G2-A94E	het unknown	0.179	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.067 (benign)
0.25	OR51G2-S9Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	KAL1-V534I	het unknown	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL9A2-Q326R	het unknown	0.403	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RGS16-P169Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	RGS16-H137R	homozygous	0.981	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TSEN15-G19D	het unknown	0.295	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.932 (probably damaging)
0.25	TSEN15-Q59H	het unknown	0.283	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.961 (probably damaging)
0.25	PLCE1-R548L	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25	PLCE1-R1575P	het unknown	0.517	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	HMCN1-I2418T	het unknown	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25	HMCN1-E2893G	het unknown	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25	HMCN1-Q4437R	het unknown	0.547	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25	PDE6C-S270T	het unknown	0.419	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	VGLL4-R275Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	VGLL4-I38M	homozygous	0.941	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CPS1-T344A	het unknown	0.583	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	CPS1-T1406N	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SYNE2-M1969T	het unknown	0.637	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.25	SYNE2-A2284V	het unknown	0.637	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.25	SYNE2-S2359N	het unknown	0.676	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25	SYNE2-A2395T	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SYNE2-S2802G	homozygous	0.864	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25	SYNE2-I2942V	het unknown	0.622	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SYNE2-N3130S	het unknown	0.120	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25	SYNE2-D3253H	het unknown	0.684	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.25	SYNE2-H3309R	het unknown	0.647	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	SYNE2-N3982H	het unknown	0.135	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests
0.25	SYNE2-R4041H	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25	SYNE2-L5186M	het unknown	0.708	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	LRRC50-E432D	het unknown	0.113	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.25	C16orf85-E145D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C16orf85-R98Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	DHODH-K7Q	het unknown	0.560	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.004 (benign)
0.25	GLI3-P998L	het unknown	0.444	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RPGRIP1L-D1264N	het unknown	0.103	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RPGRIP1L-G1025S	het unknown	0.171	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GPR56-S281R	het unknown	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATP10B-S575Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ATP10B-C217R	homozygous	0.877	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FANCA-G809D	het unknown	0.671	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FANCA-G501S	het unknown	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FANCA-T266A	het unknown	0.708	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	NR_027336-P160L	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_027336-V73F	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_027336-W23*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	TEP1-S1195P	het unknown	0.703	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TEP1-R1055C	het unknown	0.631	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PON1-L55M	het unknown	0.230	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	IRS2-G1057D	het unknown	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.024 (benign)
0.25	IRS2-P4S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	VCAN-K1516R	het unknown	0.480	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	VCAN-F2301Y	het unknown	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RPGRIP1-K192E	het unknown	0.446	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RPGRIP1-E1033Q	het unknown	0.256	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	C5orf20-R117*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	C5orf20-N97D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C5orf20-T75P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MYH6-V1101A	het unknown	0.422	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	AIPL1-D90H	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25	TXNDC3-R43K	het unknown	0.291	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TXNDC3-C208R	het unknown	0.740	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TXNDC3-I493T	het unknown	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25	DSP-R1738Q	het unknown	0.236	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	IL20RA-L382F	het unknown	0.221	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging)
0.25	IL20RA-L330Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	IL20RA-S328N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	IL20RA-V259I	homozygous	0.705	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	BDKRB2-S389Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	BDKRB2-*392G	het unknown	0.082	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PARK2-V380L	het unknown	0.169	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	EYA4-G277S	het unknown	0.467	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	ABCC10-F74Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ABCC10-I948T	homozygous	0.198	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	COL9A1-S339P	het unknown	0.507	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LMBRD1-D469E	het unknown	0.393	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	SPTBN5-N3529T	homozygous	0.668	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SPTBN5-Q2827R	homozygous	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SPTBN5-Q2816E	homozygous	0.549	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SPTBN5-R2427W	het unknown	0.213	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SPTBN5-R2194W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SPTBN5-R1525H	homozygous	0.366	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SPTBN5-Q1241Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SPTBN5-C1000R	homozygous	0.859	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SPTBN5-H398R	homozygous	0.870	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SERPINA1-R125H	het unknown	0.140	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	PMS2-K541E	het unknown	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PALB2-Q559R	het unknown	0.160	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ZNF204P-E93Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ZNF204P-K6Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	NHLRC1-P111L	het unknown	0.250	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	BBS9-A455T	het unknown	0.135	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-F-K56E	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	HLA-F-V57G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	HLA-F-D123E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	HLA-F-M126L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	HLA-F-S128Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SPATA7-D2N	het unknown	0.155	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	SPATA7-V74M	het unknown	0.412	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NEK9-G755S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging)
0.25	NEK9-R429H	het unknown	0.514	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	NEK9-V161Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	RNF39-A304E	het unknown	0.238	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	RNF39-G263C	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	RNF39-P260A	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	RNF39-S203P	het unknown	0.223	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MYO15A-G275R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MYO15A-C1977R	het unknown	0.746	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	KIAA0100-V1516G	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	KIAA0100-V474Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	KRT6B-I365V	het unknown	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	MLH1-I219V	het unknown	0.124	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	CELA1-L210Shift	het unknown	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.25	CELA1-M59V	het unknown	0.142	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging)
0.25	CELA1-Y5P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CELA1-V3Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	KRT5-D197E	het unknown	0.276	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25	ATXN7-K264R	het unknown	0.103	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	ATXN7-V862M	het unknown	0.485	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ITGA7-Q1094*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests
0.25	ITGA7-R655H	het unknown	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	RP1-R872H	het unknown	0.291	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	RP1-N985Y	het unknown	0.206	Unknown benign	Low clinical importance, uncertain	Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.
0.25	RP1-A1670T	het unknown	0.265	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	RP1-S1691P	het unknown	0.295	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	RP1-C2033Y	het unknown	0.186	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25	GBE1-R190G	het unknown	0.321	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.25	FBN3-P1958H	het unknown	0.448	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FBN3-L1904F	het unknown	0.281	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FBN3-G1614S	het unknown	0.195	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FBN3-S1293G	het unknown	0.303	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FBN3-D868N	het unknown	0.230	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FBN3-D662N	homozygous	0.984	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FBN3-F633Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	FBN3-P329L	het unknown	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	C6orf165-R141H	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C6orf165-G170A	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C6orf165-Q571*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	TG-S734A	het unknown	0.698	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TG-M1028V	het unknown	0.696	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	TG-D1312G	homozygous	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TG-D1838N	homozygous	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25	TG-W2501R	het unknown	0.566	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25	TG-R2530Q	het unknown	0.586	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	COL4A4-S1400P	het unknown	0.504	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL4A4-V1327M	het unknown	0.464	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL4A4-P1004L	het unknown	0.528	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL4A4-P482S	het unknown	0.493	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ZNF536-R189Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ZNF536-A1048V	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ATG16L1-T300A	het unknown	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	MAN2B1-R337Q	het unknown	0.237	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25	MAN2B1-T312I	het unknown	0.324	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25	FANCD2-P714L	het unknown	0.246	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL2A1-T9S	het unknown	0.598	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ZNF317-Q19H	het unknown	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	ZNF317-Q19H	het unknown	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	ANKRD30B-F477L	het unknown	0.423	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.955 (probably damaging)
0.25	ANKRD30B-P891Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	HAL-V439I	homozygous	0.914	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	HAL-Y35C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	UGT2B7-Y268H	het unknown	0.727	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NOS3-D298E	het unknown	0.844	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	COG1-N392S	het unknown	0.536	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FRY-P1381Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	FRY-G1968S	het unknown	0.226	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	BRCA1-S1634G	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	BRCA1-K1183R	het unknown	0.302	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	BRCA1-E1038G	het unknown	0.265	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	BRCA1-P871L	het unknown	0.555	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFTR-V470M	het unknown	0.621	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TIGD4-I439V	homozygous	0.699	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TIGD4-R281*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	BBS12-R386Q	het unknown	0.515	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25	TLR6-T756M	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.076 (benign)
0.25	TLR6-S249P	het unknown	0.855	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TLR1-S602I	het unknown	0.727	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TLR1-N248S	het unknown	0.643	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	GAA-H199R	het unknown	0.574	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GAA-R223H	het unknown	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GAA-E689K	het unknown	0.148	Complex/Other benign	Low clinical importance, uncertain	This is also known as the GAA*4 allozyme is frequent in the Asian population and appears to have somewhat reduced enzyme activity. Kroos et al. rule out pathogenic effect.
0.25	GAA-V780I	het unknown	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	EIF2B5-I587V	het unknown	0.370	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	ESCO2-A80V	het unknown	0.147	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CLDN16-R55Shift	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift, Testable gene in GeneTests
0.25	CHRNA2-T125A	het unknown	0.644	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SLC2A9-R294H	het unknown	0.296	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25	SLC2A9-V282I	het unknown	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.138 (benign), Testable gene in GeneTests
0.25	SLC2A9-G25R	het unknown	0.358	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CENPJ-M21V	het unknown	0.154	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	ITGB4-L1779P	het unknown	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	UNC13D-K867E	het unknown	0.596	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,734,082,703 bases (96.5% of callable positions, 90.5% of total positions)

Coding region coverage: 32,833,284 bases (98.9% of all genes, 99.4% of genes with clinical testing available)

Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX

hu2D6140 - GET-Evidence variant report

Variant report for hu2D6140

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