Variant report for huFAF983

Data source: CGI sample GS01175-DNA_F02 from PGP sample 95788191
This report: evidence.pgp-hms.org/genomes?d96b2daef5ddd272109a3b5defedbb4d3f8a5a06
Person ID: huFAF983
public profile: my.pgp-hms.org/profile/huFAF983
Download: source data, dbSNP and nsSNP report (124 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, Homozygous	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	C3-R102G	Moderate	Likely	Likely pathogenic Complex/Other, Heterozygous	0.152073	This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.	1
4	HABP2-G534E	Moderate	Likely	Likely pathogenic Unknown, Heterozygous	0.0280721	Known as the "Marburg I" polymorphism, this variant is associated with increased risk of coronary heart disease (CHD) in individuals with elevated cholesterol, triglyceride, and fibrinogen levels (5-fold risk of a CHD event, compared to 2-fold risk increase in people with the same risk factors but do not have this variant). In individuals without these elevated levels, however, carriers of the variant do not appear to have any increased risk of CHD.	1
5	APC-E1317Q	Moderate	Uncertain	Uncertain pathogenic Dominant, Heterozygous	0.00883228	This rare variant has been hypothesized to increase risk of colon cancer. Later studies have contradicted this, finding no significant enrichment and concluding the variant does not increase risk.	1
6	SIAE-M89V	Moderate	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.0400632	This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort.	1
7	OPTN-M98K	Moderate	Uncertain	Uncertain pathogenic Unknown, Heterozygous	0.0613497	This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.	1
8	BTD-D444H	Low	Well-established	Well-established pathogenic Recessive, Carrier (Heterozygous)	0.0298383	This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency.	1
9	SERPINA1-E288V	Low	Well-established	Well-established pathogenic Recessive, Carrier (Heterozygous)	0.0304889	This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.	1
10	COL4A1-Q1334H	Low	Likely	Likely pathogenic Dominant, Heterozygous	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
11	MTRR-I49M	Low	Likely	Likely pathogenic Recessive, Carrier (Heterozygous)	0.451199	This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.	1
12	AMPD1-Q12X	Low	Likely	Likely pathogenic Recessive, Carrier (Heterozygous)	0.0930643	Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.	1
13	TGIF1-P83Shift	Low	Uncertain	Uncertain pathogenic Complex/Other, Homozygous	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
14	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
15	POLG-Q1236H	Low	Uncertain	Uncertain pathogenic Complex/Other, Heterozygous	0.0581893	Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.	1
16	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
17	HFE-H63D	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.109965	There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.	1
18	SP110-L425S	Low	Uncertain	Uncertain pathogenic Unknown, Heterozygous	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
19	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
20	ACAD8-S171C	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.018312	This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.	1
21	DPYD-M166V	High	Likely	Likely pharmacogenetic Unknown, Heterozygous	0.0778955	Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil.	1
22	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
23	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
24	FUT2-W154X	Moderate	Well-established	Well-established protective Recessive, Homozygous	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
25	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
26	CFH-V62I	Low	Likely	Likely protective Complex/Other, Heterozygous	0.391616	Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.	1
27	KCNJ11-K23E	Low	Likely	Likely protective Unknown, Heterozygous	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
28	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
29	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
30	CACNA1S-L458H	Low	Likely	Likely benign Unknown, Homozygous	0.27282	Common polymorphism	1
31	MLH1-I219V	Low	Uncertain	Uncertain benign Dominant, Homozygous	0.239822	Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.	1
32	RPGRIP1-A547S	Low	Uncertain	Uncertain benign Complex/Other, Homozygous	0.232202	Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.	1
33	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
34	MAPT-Q230R	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0420019	Common polymorphism.	1
35	KCNQ3-R777Q	Low	Uncertain	Uncertain benign Unknown, Heterozygous	9.2954e-05	Tentatively evaluated as benign. Other missense mutations have been reported to cause benign familial neonatal seizures in a dominant manner, this was observed in a PGP participant with no reported family history of this phenotype.	1
36	FLNB-G925C	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.000650678	Rare, tentatively classified as benign. Polyphen 2 predicts a damaging effect and other variants in this gene are reported to cause serious diseases, but most of these are dominant and have phenotypes contradicted by the presence of this variant in a healthy PGP participant. Variants reported to cause recessive disease are more severe than this variant (nonsense instead of missense mutations).	1
37	VWF-G2705R	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0460123	Probably benign, seems to be considered an uncommon polymorphism.	1
38	NSD1-A2546T	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0254001	Benign, reported as a polymorphism.	1
39	ELN-G581R	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.072876	Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).	1
40	F5-M413T	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0580963	Presumed benign. This variant is not particularly rare and has not been reported to cause disease.	1
41	APOB-Y1422C	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.999628	This position is almost certainly an error in the HG18 reference sequence.	1
42	AMPD1-P48L	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0940695	Probably benign, ancestral to15173240 pathogenic Q12X mutation.	1
43	ABCA4-R943Q	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0316044	This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.	1
44	MAPT-R370W	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.155549	Probably benign.	1
45	PALB2-E672Q	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0244469	Probably benign.	1
46	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
47	PTCH1-P1315L	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.29631	Common polymorphism, presumed benign.	1
48	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
49	PCSK9-G670E	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.888269	This variant is likely benign.	1
50	TAS2R38-I296V	Low	Uncertain	Uncertain benign Unknown, Heterozygous	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

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

Exome coverage: 32888611 / 33282720 = 98.82%

Row number	Gene	Chromosome	Coverage	Missing	Length	Missing regions
1	AGRN	1	0.96008471814923	245	6138	955553-955593, 955597-955622, 955640, 955649, 955660, 955664-955673, 976246-976253, 976257-976259, 976706, 981885, 981973-981977, 983598-983645, 983659, 983661-983674, 983679-983745, 984699, 990280, 990292-990306
2	GABRD	1	0.98086828550405	26	1359	1950863-1950864, 1950873-1950876, 1950887-1950888, 1950891, 1950894, 1950915-1950930
3	PEX10	1	0.99388379204893	6	981	2337972-2337977
4	NPHP4	1	0.99953281943471	2	4281	5935136-5935137
5	ESPN	1	0.86315789473684	351	2565	6485092-6485106, 6488319-6488336, 6488377-6488392, 6488426-6488432, 6500386-6500392, 6500709-6500758, 6500776-6500798, 6500830-6500868, 6501032, 6501062, 6505726-6505738, 6505779, 6505795, 6505844-6505861, 6505872-6505920, 6508709-6508733, 6508760-6508766, 6508831, 6508882-6508888, 6509103, 6511703-6511709, 6511907-6511942, 6512127-6512133, 6517244
6	PLEKHG5	1	0.96174349325807	122	3189	6534142, 6534170-6534206, 6534217-6534224, 6534511-6534544, 6534552-6534593
7	KIF1B	1	0.99962356484096	2	5313	10356996, 10357000
8	TARDBP	1	0.99437751004016	7	1245	11082356-11082362
9	CLCNKA	1	0.99273255813953	15	2064	16354391-16354397, 16355716, 16360141-16360147
10	CLCNKB	1	0.99321705426357	14	2064	16373044-16373050, 16383399-16383405
11	ATP13A2	1	0.9994355066328	2	3543	17322616-17322617
12	SDHB	1	0.98457888493476	13	843	17355135-17355147
13	ALDH4A1	1	0.99822695035461	3	1692	19228970-19228971, 19228976
14	ALPL	1	0.99238095238095	12	1575	21903898-21903903, 21903906-21903907, 21903910-21903913
15	HSPG2	1	0.99521857923497	63	13176	22263648-22263710
16	WNT4	1	0.92708333333333	77	1056	22469339-22469415
17	SEPN1	1	0.89028776978417	183	1668	26126722-26126904
18	KCNQ4	1	0.97653256704981	49	2088	41249771-41249775, 41284257-41284300
19	MPL	1	0.99737945492662	5	1908	43805648-43805651, 43818356
20	MUTYH	1	0.9955385595921	7	1569	45797194-45797200
21	STIL	1	0.99870700801655	5	3867	47759168, 47765706-47765709
22	DHCR24	1	0.99871050934881	2	1551	55352593, 55352597
23	ALG6	1	0.97254901960784	42	1530	63885052-63885090, 63894466-63894468
24	LEPR	1	0.99971412235563	1	3498	66083731
25	CTH	1	0.99835796387521	2	1218	70883708-70883709
26	ACADM	1	0.99921752738654	1	1278	76215131
27	GLMN	1	0.99607843137255	7	1785	92731978-92731983, 92732049
28	RPL5	1	0.96420581655481	32	894	93307380-93307411
29	ABCA4	1	0.99868073878628	9	6822	94473845, 94497469-94497476
30	DPYD	1	0.9766081871345	72	3078	97847949-97848017, 98144693, 98144722, 98144738
31	AGL	1	0.99913024570559	4	4599	100336314, 100376268-100376270
32	DBT	1	0.97032436162871	43	1449	100671856-100671857, 100701007-100701034, 100701054-100701066
33	COL11A1	1	0.9617005680777	209	5457	103363714-103363717, 103364222-103364329, 103364497-103364532, 103404632, 103412439, 103435775-103435780, 103435788-103435793, 103435803-103435807, 103435817, 103435820, 103435823-103435827, 103470164, 103470173-103470179, 103471852-103471856, 103478009-103478014, 103478020, 103478023-103478025, 103544214-103544219, 103548515-103548520
34	CASQ2	1	0.98666666666667	16	1200	116244024-116244039
35	NOTCH2	1	0.97936893203883	153	7416	120539665-120539714, 120539738-120539745, 120539778-120539784, 120539913-120539919, 120539933-120539955, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611957-120611967, 120612003-120612004, 120612006
36	PRPF3	1	0.99805068226121	4	2052	150316971-150316974
37	FLG	1	0.99909732479895	11	12186	152277402-152277403, 152277406-152277407, 152279403-152279409
38	LMNA	1	0.99823633156966	1	567	156105078
39	LMNA	1	0.99949874686717	1	1995	156105078
40	SEMA4A	1	0.99868766404199	3	2286	156146564-156146566
41	NTRK1	1	0.99121706398996	21	2391	156830727-156830738, 156830741, 156830748-156830753, 156851303-156851304
42	MPZ	1	0.996138996139	3	777	161279629-161279631
43	SLC19A2	1	0.99531459170013	7	1494	169454958-169454960, 169454968-169454971
44	F5	1	0.99820224719101	12	6675	169510367, 169510380, 169510502, 169510515, 169510524, 169510634-169510640
45	MYOC	1	0.99471947194719	8	1515	171621510-171621517
46	NPHS2	1	0.99913194444444	1	1152	179544870
47	HMCN1	1	0.99733853797019	45	16908	185970431, 185988737, 186022126-186022133, 186031646-186031647, 186094886-186094918
48	PDC	1	0.93927125506073	45	741	186418531-186418564, 186418569-186418574, 186418580-186418582, 186418589-186418590
49	CDC73	1	0.99874686716792	2	1596	193181530, 193181578
50	CFH	1	0.96996753246753	111	3696	196643043, 196658641-196658645, 196658649-196658656, 196658672-196658673, 196658725-196658743, 196684867-196684882, 196695712-196695713, 196696000-196696001, 196706732-196706736, 196706751, 196712583-196712589, 196716353-196716395
51	CFHR1	1	0.9889224572004	11	993	196797206, 196797238, 196797244, 196797290-196797292, 196797295, 196801005, 196801023, 196801042, 196801078
52	CFHR5	1	0.94035087719298	102	1710	196953110-196953168, 196953177-196953181, 196953195-196953228, 196963210-196963213
53	ASPM	1	0.99875407322216	13	10434	197069602-197069603, 197069608-197069609, 197069701, 197069711, 197104268-197104269, 197113087-197113090, 197113218
54	CD46	1	0.99916666666667	1	1200	207943692
55	USH2A	1	0.99929527836505	11	15609	215916563, 216246556-216246563, 216369934, 216496821
56	LBR	1	0.99837662337662	3	1848	225607152-225607154
57	GJC2	1	0.87575757575758	164	1320	228345574, 228345579-228345596, 228345607-228345612, 228345616, 228345675-228345676, 228345684-228345689, 228345895, 228345915-228345917, 228346068-228346073, 228346077, 228346086, 228346336-228346346, 228346365-228346367, 228346375-228346434, 228346447-228346489, 228346556
58	LYST	1	0.99044362616167	109	11406	235840918, 235875402, 235875416-235875419, 235875424, 235875430, 235875433-235875435, 235875442-235875461, 235875464-235875468, 235907282-235907303, 235907316-235907318, 235944165-235944173, 235944227, 235944233-235944239, 235944243, 235944247, 235944262, 235944300, 235944328-235944329, 235950516-235950518, 235950537-235950547, 235950557-235950559, 235967851, 235967854-235967859, 235967896
59	RYR2	1	0.99463231347289	80	14904	237655177-237655185, 237656287-237656290, 237821244-237821245, 237821250-237821255, 237821287-237821322, 237824133, 237838133, 237838139, 237881762-237881776, 237881785-237881789
60	FH	1	0.99608610567515	6	1533	241669402-241669407
61	DCLRE1C	10	0.98556998556999	30	2079	14970115-14970122, 14981847-14981868
62	PTF1A	10	0.98986828774063	10	987	23481741-23481746, 23481768-23481770, 23481974
63	MYO3A	10	0.99876314162028	6	4851	26385316-26385320, 26385538
64	PDSS1	10	0.95432692307692	57	1248	26994236-26994279, 26994311-26994323
65	RET	10	0.98146487294469	62	3345	43572707-43572768
66	ERCC6	10	0.99286033020973	32	4482	50678421-50678437, 50738807-50738814, 50740782, 50740790-50740795
67	CHAT	10	0.93012906097018	157	2247	50822253, 50822269, 50822276-50822430
68	PCDH15	10	0.99490575649516	30	5889	55663069-55663072, 55719568, 55826571-55826573, 55826577-55826583, 55826593-55826596, 56128952-56128954, 56128956-56128957, 56138688-56138691, 56138701-56138702
69	PSAP	10	0.99301587301587	11	1575	73588806-73588816
70	VCL	10	0.99735682819383	9	3405	75854136-75854144
71	LDB3	10	0.99542124542125	10	2184	88466317-88466325, 88476088
72	BMPR1A	10	0.99562226391495	7	1599	88683143-88683149
73	PAX2	10	0.99461123941493	7	1299	102587334-102587340
74	FBXW4	10	0.99757869249395	3	1239	103454358-103454360
75	SUFU	10	0.99931271477663	1	1455	104263979
76	HTRA1	10	0.91822591822592	118	1443	124221169-124221263, 124221297-124221318, 124221390
77	OAT	10	0.98863636363636	15	1320	126100640-126100654
78	SLC25A22	11	0.98353909465021	16	972	792635-792636, 792639-792644, 792648-792650, 792656-792659, 792663
79	PNPLA2	11	0.99075907590759	14	1515	819719-819721, 819876, 819879, 819882, 819898-819905
80	TH	11	0.99365079365079	10	1575	2191946-2191955
81	KCNQ1	11	0.99950763170852	1	2031	2466395
82	CDKN1C	11	0.82754994742376	164	951	2905939-2905941, 2905947, 2905952-2905953, 2905956-2905957, 2905965-2905967, 2905971, 2906031, 2906067-2906111, 2906128, 2906130, 2906133-2906139, 2906150-2906181, 2906185-2906186, 2906198, 2906203-2906212, 2906220-2906223, 2906324, 2906399-2906444, 2906465
83	SMPD1	11	0.9873417721519	24	1896	6411935-6411941, 6412762-6412777, 6413179
84	SBF2	11	0.99981981981982	1	5550	10013992
85	ABCC8	11	0.99957859249895	2	4746	17450154-17450155
86	USH1C	11	0.98777777777778	33	2700	17531107-17531132, 17531143-17531149
87	ANO5	11	0.97884755652808	58	2742	22277004-22277014, 22277020, 22277023-22277068
88	PDHX	11	0.99933598937583	1	1506	34991772
89	SLC35C1	11	0.99905303030303	1	1056	45827803
90	DDB2	11	0.99688473520249	4	1284	47236752-47236755
91	SERPING1	11	0.96939454424484	46	1503	57365747-57365792
92	SLC22A12	11	0.98134777376655	31	1662	64367272-64367302
93	AIP	11	0.97985901309164	20	993	67257559-67257578
94	TCIRG1	11	0.99679101484156	8	2493	67816576-67816583
95	LRP5	11	0.99236798679868	37	4848	68080183, 68080189-68080214, 68080217-68080226
96	CPT1A	11	0.99913867355728	2	2322	68527761, 68552308
97	DHCR7	11	0.99299719887955	10	1428	71146581-71146584, 71146663-71146668
98	MYO7A	11	0.9998495788207	1	6648	76922295
99	ALG8	11	0.99936748893106	1	1581	77815042
100	DYNC2H1	11	0.96322904596369	476	12945	102984286-102984294, 102984312-102984376, 102984420-102984422, 102995887-102995894, 102999698-102999700, 103023007, 103024181, 103027282-103027288, 103029438, 103029447-103029454, 103029516, 103029530, 103029654-103029655, 103036712-103036746, 103036763-103036764, 103036767, 103043811-103043824, 103043832-103043839, 103043850, 103043930, 103043945-103043977, 103043986, 103043991, 103044022, 103044027-103044032, 103049755, 103049801-103049849, 103052514-103052519, 103052523-103052540, 103057182-103057206, 103059226-103059288, 103060440, 103062291, 103062334, 103062337, 103062985, 103074467-103074481, 103082527-103082540, 103082543, 103082551-103082558, 103082590, 103082594-103082598, 103082608-103082609, 103082641, 103082651, 103082661-103082665, 103082671-103082672, 103093752, 103106410, 103128441-103128451, 103130617-103130630, 103152958, 103187275-103187277, 103187280, 103270528-103270535
101	ATM	11	0.98571584341947	131	9171	108098553-108098573, 108126954-108126959, 108126966-108126967, 108126970, 108126993-108126999, 108127009-108127067, 108196177-108196211
102	DLAT	11	0.99691358024691	6	1944	111909978-111909982, 111910040
103	SC5DL	11	0.99777777777778	2	900	121177999-121178000
104	ROBO3	11	0.99879836577746	5	4161	124739428-124739432
105	WNK1	12	0.99846743295019	2	1305	977181-977182
106	WNK1	12	0.99930060148272	5	7149	863230-863231, 970475-970477
107	CACNA1C	12	0.99634202103338	24	6561	2794934-2794940, 2795336-2795342, 2797639-2797648
108	VWF	12	0.97405828002843	219	8442	6122709, 6125338-6125344, 6125722-6125728, 6127637-6127661, 6127865-6127881, 6127940-6127946, 6128064-6128079, 6128167-6128173, 6128339-6128347, 6128440-6128482, 6128544-6128550, 6128784-6128790, 6131926-6131932, 6131955-6131982, 6132003-6132033
109	ATN1	12	0.98824517212427	42	3573	7044855-7044874, 7045600, 7045603-7045604, 7045608, 7045892-7045909
110	GYS2	12	0.99337121212121	14	2112	21712033, 21712037, 21733365-21733376
111	ABCC9	12	0.99720430107527	13	4650	21998565, 21998568, 21998582, 21998587-21998591, 22025602, 22063766, 22063788, 22063813, 22063877
112	KRAS	12	0.9859649122807	8	570	25380184, 25380187-25380193
113	DNM1L	12	0.99909543193125	2	2211	32866168, 32866187
114	KIF21A	12	0.99859606899318	7	4986	39709042, 39756950-39756953, 39756957, 39761740
115	LRRK2	12	0.98945147679325	80	7584	40634340, 40716962-40716968, 40742285, 40749917, 40761446-40761461, 40761489-40761491, 40761501-40761551
116	IRAK4	12	0.99783080260304	3	1383	44166765, 44180202, 44180295
117	MLL2	12	0.99933790778861	11	16614	49426805-49426808, 49427673-49427676, 49427679, 49427682, 49427685
118	TUBA1A	12	0.96271929824561	17	456	49522195-49522211
119	KRT86	12	0.99452429842574	8	1461	52695850-52695857
120	KRT6B	12	0.93687315634218	107	1695	52841338-52841344, 52843632-52843637, 52844243, 52844246, 52844265, 52845365-52845371, 52845397-52845438, 52845528-52845534, 52845574, 52845601, 52845662-52845686, 52845713-52845719, 52845801
121	KRT6C	12	0.91976401179941	136	1695	52863210-52863216, 52864945-52864973, 52865295-52865300, 52865903, 52865906, 52865918, 52865925, 52867024-52867030, 52867094, 52867105, 52867187-52867193, 52867230-52867263, 52867321-52867346, 52867372-52867378, 52867457-52867463
122	KRT6A	12	0.94336283185841	96	1695	52881868-52881874, 52882264-52882270, 52884735, 52886553-52886559, 52886638-52886644, 52886681-52886714, 52886772-52886797, 52886908-52886914
123	KRT5	12	0.98984771573604	18	1773	52908812-52908822, 52908836-52908837, 52908844-52908847, 52908872
124	KRT1	12	0.99173126614987	16	1935	53069289-53069304
125	KIF5A	12	0.99967731526299	1	3099	57944167
126	LEMD3	12	0.99013157894737	27	2736	65612369-65612395
127	CEP290	12	0.96612903225806	252	7440	88443098-88443099, 88457794, 88462299-88462333, 88462342-88462354, 88462358, 88462362-88462364, 88472921, 88472956, 88481683-88481689, 88490710, 88490759-88490766, 88505471-88505484, 88505492-88505499, 88505523, 88505537, 88505620-88505621, 88505626, 88505631-88505635, 88513891-88513915, 88513959, 88513975, 88514001-88514005, 88514009, 88514026-88514029, 88519023-88519063, 88519079-88519080, 88519118-88519145, 88520212-88520213, 88522723, 88523474-88523475, 88523478, 88523482, 88523516-88523547
128	TMPO	12	0.99904076738609	2	2085	98921680-98921681
129	SYCP3	12	0.9971870604782	2	711	102125378, 102125400
130	GNPTAB	12	0.99946963670114	2	3771	102151082-102151083
131	MYL2	12	0.98203592814371	9	501	111348893-111348898, 111348902-111348903, 111348906
132	ATXN2	12	0.97412480974125	102	3942	112036595-112036598, 112036745-112036757, 112036759, 112036762-112036763, 112036766-112036767, 112036773-112036779, 112036797, 112036803-112036824, 112036892-112036907, 112036929, 112036944-112036948, 112036970-112036978, 112037025, 112037042-112037051, 112037064, 112037221-112037227
133	PUS1	12	0.99922118380062	1	1284	132426013
134	BRCA2	13	0.99444281953788	57	10257	32913370-32913381, 32920967-32920969, 32920973-32920978, 32921002-32921031, 32953634, 32953639-32953643
135	FREM2	13	0.9993690851735	6	9510	39261568-39261570, 39433657-39433659
136	SUCLA2	13	0.99784482758621	3	1392	48542773, 48570997, 48571003
137	RB1	13	0.98815931108719	33	2787	48947586, 48954213-48954216, 49039216-49039226, 49051513-49051529
138	EDNRB	13	0.99924755455229	1	1329	78472423
139	SLITRK1	13	0.99426111908178	12	2091	84454497-84454508
140	ZIC2	13	0.9349593495935	104	1599	100634394, 100634401-100634403, 100635008-100635010, 100635028-100635031, 100637703-100637704, 100637710, 100637715-100637720, 100637723-100637725, 100637731, 100637744-100637748, 100637792, 100637796-100637801, 100637806, 100637823-100637858, 100637866-100637870, 100637878-100637895, 100637909-100637910, 100637918-100637923
141	PCCA	13	0.99954275262917	1	2187	100764140
142	ERCC5	13	0.99787685774947	9	4239	103468786, 103468819, 103468835, 103468839, 103474099, 103515391-103515392, 103515395, 103520550
143	COL4A1	13	0.9998003992016	1	5010	110864252
144	GRK1	13	0.99763593380615	4	1692	114426083-114426086
145	TEP1	14	0.99974632166413	2	7884	20846265-20846266
146	PABPN1	14	0.81867535287731	167	921	23790741-23790742, 23790780, 23790784, 23790794, 23790798-23790816, 23790851-23790894, 23790911-23790914, 23790919-23790933, 23790936-23790948, 23790954-23790956, 23790963, 23790967-23791029
147	MYH7	14	0.99707300275482	17	5808	23888388, 23897783-23897798
148	FOXG1	14	0.78367346938776	318	1470	29236553-29236555, 29236620-29236725, 29236741-29236949
149	NKX2-1	14	0.99253731343284	9	1206	36988372-36988379, 36988383
150	FANCM	14	0.97966487717586	125	6147	45623941-45623944, 45623947-45623953, 45623971-45623976, 45623981, 45623985, 45623995-45624025, 45636360, 45650641-45650650, 45652977-45652991, 45653010-45653038, 45653060, 45667872-45667875, 45667886-45667896, 45667963-45667965, 45668075
151	PYGL	14	0.99960691823899	1	2544	51390720
152	SYNE2	14	0.9962362478286	78	20724	64434459-64434460, 64457691, 64494364-64494367, 64522727-64522769, 64522798-64522801, 64522818, 64522837-64522840, 64522843, 64556316-64556321, 64556345-64556350, 64556360-64556365
153	MLH3	14	0.99679046309033	14	4362	75514246-75514259
154	ESRRB	14	0.99738048461035	4	1527	76964700-76964703
155	SPATA7	14	0.96222222222222	68	1800	88859771, 88859803-88859824, 88883118-88883158, 88899500-88899503
156	TTC8	14	0.98772609819121	19	1548	89305814-89305831, 89305835
157	ATXN3	14	0.93278084714549	73	1086	92537347, 92537355-92537357, 92537369, 92537379, 92559596-92559662
158	VRK1	14	0.95717884130982	51	1191	97304113-97304154, 97322527, 97322530-97322533, 97322549-97322552
159	AMN	14	0.99779735682819	3	1362	103396643, 103396651, 103396924
160	INF2	14	0.90986666666667	338	3750	105167947-105167950, 105173780, 105173859-105174128, 105174135-105174161, 105174170, 105174173-105174191, 105174890-105174895, 105175988, 105175997-105176001, 105176004-105176007
161	NIPA1	15	0.82020202020202	178	990	23086234-23086411
162	UBE3A	15	0.99733637747336	7	2628	25616620-25616626
163	OCA2	15	0.99841080651569	4	2517	28263543, 28263547-28263549
164	CHST14	15	0.98585322723254	16	1131	40763456-40763462, 40763486, 40763497-40763502, 40763530-40763531
165	CDAN1	15	0.99647122692725	13	3684	43028790-43028802
166	TTBK2	15	0.99625167336011	14	3735	43067843, 43067856, 43103887, 43103890-43103892, 43103898, 43103910-43103911, 43103939, 43103942, 43120130, 43164912-43164913
167	STRC	15	0.98592342342342	75	5328	43892272, 43896265, 43896303-43896312, 43901476, 43901491, 43908092, 43909883-43909893, 43910436-43910443, 43910863-43910903
168	STRC	15	0.99832495812395	1	597	44002828
169	STRC	15	0.99282051282051	14	1950	44007554, 44009345-44009355, 44009608, 44009620
170	SPG11	15	0.99959083469722	3	7332	44912474, 44912583, 44941097
171	DUOX2	15	0.99935442220788	3	4647	45397959-45397961
172	FBN1	15	0.99988393686165	1	8616	48784723
173	CEP152	15	0.99677744209466	16	4965	49036443-49036444, 49036486-49036498, 49044629
174	SCG3	15	0.99786780383795	3	1407	51974720, 51974746-51974747
175	NR2E3	15	0.99728260869565	3	1104	72103913-72103915
176	BBS4	15	0.99935897435897	1	1560	73023697
177	HCN4	15	0.99390919158361	22	3612	73614828-73614834, 73614945, 73615149, 73616168-73616170, 73660094-73660100, 73660239, 73660367, 73660371
178	MESP2	15	0.9891122278057	13	1194	90320135-90320146, 90320149
179	BLM	15	0.99459332393042	23	4254	91337402, 91337415-91337416, 91337440-91337443, 91337447, 91337490-91337493, 91337505-91337512, 91337522, 91337533, 91337587
180	HBZ	16	0.98135198135198	8	429	203961, 203970, 203976, 204330-204333, 204395
181	CLCN7	16	0.99503722084367	12	2418	1507327-1507338
182	GFER	16	0.98058252427184	12	618	2034236-2034240, 2034316, 2034319, 2034327, 2034332, 2034335-2034337
183	TSC2	16	0.99889380530973	6	5424	2103402-2103407
184	PKD1	16	0.94996902106568	646	12912	2141018-2141021, 2141040, 2141056-2141057, 2141158-2141163, 2141167, 2141172, 2147191-2147196, 2147731-2147750, 2147914-2147952, 2149645-2149675, 2149862-2149879, 2149928-2149972, 2150059, 2150064, 2150281, 2150470-2150503, 2152126-2152143, 2153302, 2153422-2153447, 2153724, 2153733, 2153767, 2153820-2153854, 2154570-2154576, 2154606-2154643, 2155981-2155987, 2156416-2156462, 2156935-2156949, 2157926-2157932, 2158746-2158752, 2160578, 2160718-2160732, 2162343-2162364, 2162863-2162878, 2164487-2164493, 2164804-2164812, 2164919-2164925, 2167014-2167020, 2167624-2167661, 2167870-2167878, 2167975-2167995, 2168056-2168068, 2168267, 2168327, 2168333-2168339, 2168360, 2185499, 2185524, 2185564-2185565, 2185588, 2185592-2185597, 2185602-2185603, 2185607-2185609, 2185658-2185690
185	CREBBP	16	0.99822622458726	13	7329	3778449-3778460, 3779146
186	GLIS2	16	0.99873015873016	2	1575	4387141-4387142
187	ALG1	16	0.93476702508961	91	1395	5130959-5130999, 5131016-5131057, 5132603, 5132636, 5134877-5134882
188	PMM2	16	0.99325236167341	5	741	8895713-8895717
189	ABCC6	16	0.98581560283688	64	4512	16313509-16313515, 16313679-16313685, 16315579-16315596, 16315643-16315674
190	OTOA	16	0.99795321637427	7	3420	21742176-21742182
191	SCNN1B	16	0.99583983359334	8	1923	23360063-23360070
192	PALB2	16	0.99354114012918	23	3561	23647633-23647655
193	CLN3	16	0.99544419134396	6	1317	28497681-28497682, 28497689-28497692
194	TUFM	16	0.99926900584795	1	1368	28857419
195	PHKG2	16	0.93611793611794	78	1221	30760142-30760219
196	PHKB	16	0.99847653869592	5	3282	47722994, 47723003-47723006
197	CYLD	16	0.99860237596087	4	2862	50785662, 50785733, 50811836, 50826593
198	SALL1	16	0.9959748427673	16	3975	51175642, 51175653-51175667
199	RPGRIP1L	16	0.99822695035461	7	3948	53672232, 53672302-53672303, 53672312, 53672323, 53721876-53721877
200	SLC12A3	16	0.99967668929842	1	3093	56911990
201	GPR56	16	0.99806201550388	4	2064	57689317-57689318, 57689322-57689323
202	HSD11B2	16	0.95648604269294	53	1218	67465198-67465207, 67465216-67465249, 67465274, 67465287-67465290, 67470245, 67470523, 67470534-67470535
203	LCAT	16	0.99470899470899	7	1323	67977015-67977021
204	GCSH	16	0.98467432950192	8	522	81116501-81116508
205	GAN	16	0.99832775919732	3	1794	81348763-81348764, 81348768
206	MLYCD	16	0.93049932523617	103	1482	83932787-83932829, 83932840-83932870, 83932985, 83932989, 83932993-83932996, 83933083-83933105
207	LRRC50	16	0.99908172635445	2	2178	84199533-84199534
208	FOXF1	16	0.99912280701754	1	1140	86544208
209	FOXC2	16	0.98273572377158	26	1506	86602359-86602384
210	JPH3	16	0.99376947040498	14	2247	87678144, 87723735-87723743, 87723749, 87723758-87723760
211	CYBA	16	0.99829931972789	1	588	88709876
212	GALNS	16	0.9961759082218	6	1569	88923250, 88923259-88923263
213	SPG7	16	0.99832495812395	4	2388	89579413-89579416
214	FANCA	16	0.99702380952381	13	4368	89836974-89836986
215	PAFAH1B1	17	0.99351175993512	8	1233	2579846-2579853
216	ASPA	17	0.97876857749469	20	942	3402339-3402340, 3402346-3402363
217	PITPNM3	17	0.99487179487179	15	2925	6358728, 6358785-6358791, 6358796-6358799, 6358917-6358919
218	MPDU1	17	0.99865591397849	1	744	7490479
219	GUCY2D	17	0.99969806763285	1	3312	7906369
220	ALOXE3	17	0.99672284644195	7	2136	8013268-8013274
221	HES7	17	0.97345132743363	18	678	8024893-8024900, 8025003, 8025663-8025669, 8025672, 8025690
222	ELAC2	17	0.99637243047158	9	2481	12896189-12896197
223	COX10	17	0.98873873873874	15	1332	14005493-14005500, 14095345-14095351
224	RAI1	17	0.99475616151023	30	5721	17697094-17697118, 17697127, 17698204-17698207
225	MYO15A	17	0.99726234305674	29	10593	18024017-18024040, 18053823, 18053826, 18061102-18061104
226	UNC119	17	0.92807745504841	52	723	26879391-26879420, 26879423, 26879432-26879441, 26879443-26879448, 26879459, 26879478, 26879516, 26879519, 26879522
227	NF1	17	0.98943661971831	90	8520	29422328-29422370, 29586101, 29586122, 29586125, 29664841-29664848, 29664861-29664864, 29665043-29665073, 29665157
228	KRT10	17	0.96353276353276	64	1755	38975229-38975248, 38975328, 38978452-38978494
229	KRT14	17	0.96264975334743	53	1419	39741304-39741309, 39742829-39742872, 39742894, 39742898-39742899
230	KRT16	17	0.94655414908579	76	1422	39766240-39766281, 39768658-39768664, 39768740-39768759, 39768932-39768938
231	KRT17	17	0.97536566589684	32	1299	39780414-39780420, 39780516-39780540
232	STAT5B	17	0.99703891708968	7	2364	40371359, 40371362-40371363, 40371368-40371371
233	WNK4	17	0.9997320471597	1	3732	40947167
234	BRCA1	17	0.99946949602122	3	5655	41219646-41219647, 41219663
235	GRN	17	0.99943883277217	1	1782	42430123
236	PLEKHM1	17	0.98328602964365	53	3171	43531297, 43553004-43553048, 43555478-43555484
237	TRIM37	17	0.99550949913644	13	2895	57119237, 57125155, 57125158-57125161, 57158574-57158580
238	BRIP1	17	0.9976	9	3750	59793312-59793317, 59793345, 59793353, 59871005
239	ACE	17	0.99489926039276	20	3921	61554469, 61554472-61554476, 61554494-61554496, 61554505-61554512, 61554527-61554529
240	SCN4A	17	0.99981854472872	1	5511	62029239
241	AXIN2	17	0.98775671406003	31	2532	63533729-63533755, 63554542-63554545
242	SOX9	17	0.99934640522876	1	1530	70120073
243	SEPT9	17	0.92277115275412	136	1761	75494605-75494740
244	SGSH	17	0.9973492379059	4	1509	78188884-78188887
245	AFG3L2	18	0.99958228905597	1	2394	12377063
246	LAMA3	18	0.99820035992801	18	10002	21269658-21269659, 21269663-21269665, 21357526-21357538
247	DSC3	18	0.99479747305834	14	2691	28574304, 28574328, 28574336-28574337, 28581675, 28581687-28581689, 28586923-28586926, 28586936, 28586996
248	DSC2	18	0.98263118994826	47	2706	28650769-28650779, 28659841-28659842, 28659846, 28659883-28659915
249	DSG2	18	0.9982126899017	6	3357	29078222, 29115283-29115287
250	LOXHD1	18	0.99517781796263	32	6636	44126858-44126889
251	MYO5B	18	0.99332972778078	37	5547	47352944-47352980
252	SMAD4	18	0.99819168173599	3	1659	48603074-48603076
253	ATP8B1	18	0.99361022364217	24	3756	55364852, 55365029-55365051
254	TNFRSF11A	18	0.99189627228525	15	1851	59992590-59992592, 59992616, 59992621-59992626, 59992632-59992636
255	ELANE	19	0.87064676616915	104	804	853262-853365
256	KISS1R	19	0.99331662489557	8	1197	920298, 920319-920322, 920360, 920559, 920744
257	MAP2K2	19	0.92352452202826	92	1203	4123781-4123872
258	C3	19	0.99459134615385	27	4992	6707087-6707089, 6707109-6707130, 6707255, 6709848
259	PNPLA6	19	0.99723895582329	11	3984	7620626-7620636
260	PRKCSH	19	0.99810964083176	3	1587	11558341-11558343
261	CACNA1A	19	0.99055976598857	71	7521	13318405-13318412, 13318656, 13318673-13318696, 13318702-13318703, 13318792, 13318795-13318800, 13318811, 13318842-13318867, 13319693, 13409562
262	NOTCH3	19	0.99425782371519	40	6966	15311654-15311661, 15311674-15311675, 15311679-15311704, 15311708-15311711
263	JAK3	19	0.99318518518519	23	3375	17940951-17940956, 17940962-17940971, 17941341-17941347
264	COMP	19	0.99824098504837	4	2274	18896529, 18900808, 18900814-18900815
265	CEBPA	19	0.9405756731662	64	1077	33792751-33792758, 33792859-33792866, 33792916-33792919, 33792969, 33792973, 33793008-33793010, 33793015-33793016, 33793019, 33793022-33793025, 33793028-33793033, 33793148-33793155, 33793166-33793174, 33793198-33793200, 33793211-33793215, 33793235
266	SCN1B	19	0.95043370508055	40	807	35521725-35521764
267	PRODH2	19	0.98820608317815	19	1611	36303328-36303346
268	NPHS1	19	0.99248523886205	28	3726	36336595, 36336668-36336675, 36339571-36339589
269	WDR62	19	0.99978127734033	1	4572	36558310
270	RYR1	19	0.98564529999338	217	15117	38931398-38931433, 38980032-38980033, 38980036, 38987506, 39055702-39055708, 39055765-39055795, 39055809-39055898, 39055905-39055935, 39055951-39055953, 39055966, 39078012-39078021, 39078037-39078038, 39078052-39078053
271	ACTN4	19	0.98976608187135	28	2736	39215144-39215170, 39216479
272	PRX	19	0.98928408572731	47	4386	40900180-40900185, 40900192-40900195, 40901111-40901112, 40901324, 40901327-40901328, 40903423, 40909654-40909658, 40909685, 40909697-40909701, 40909719-40909725, 40909729, 40909749-40909758, 40909768-40909769
273	BCAM	19	0.99364069952305	12	1887	45312395, 45312427, 45324044-45324046, 45324070-45324076
274	SIX5	19	0.98378378378378	36	2220	46269088-46269093, 46269096, 46269099-46269110, 46269116, 46270177-46270186, 46271846-46271849, 46272083-46272084
275	DMPK	19	0.97248677248677	52	1890	46285524-46285527, 46285536-46285547, 46285552-46285557, 46285571-46285592, 46285603-46285610
276	DBP	19	0.99079754601227	9	978	49138846-49138847, 49138850-49138851, 49138856, 49138867-49138870
277	MED25	19	0.99955436720143	1	2244	50333781
278	KCNC3	19	0.83245382585752	381	2274	50823503-50823584, 50826358, 50826397-50826433, 50826441-50826479, 50826628, 50831482, 50831517, 50831520-50831525, 50831692-50831731, 50831963, 50831968-50831973, 50831976, 50831992, 50832001, 50832005, 50832031, 50832045, 50832137, 50832152, 50832182-50832339
279	NLRP12	19	0.98807281858129	38	3186	54297361-54297372, 54313669, 54313848-54313857, 54313867-54313878, 54313882-54313884
280	PRKCG	19	0.98280802292264	36	2094	54392958, 54392977-54392981, 54392989, 54393171-54393174, 54393209-54393216, 54393219, 54393224, 54401318-54401320, 54403973-54403976, 54410083-54410090
281	TSEN34	19	0.9989281886388	1	933	54695330
282	TNNT1	19	0.99873257287706	1	789	55652323
283	KLF11	2	0.99545159194282	7	1539	10183848-10183850, 10183862-10183864, 10183875
284	APOB	2	0.99992696465089	1	13692	21266761
285	POMC	2	0.99751243781095	2	804	25384465, 25384479
286	OTOF	2	0.97981314647981	121	5994	26699759-26699826, 26699835-26699850, 26699865-26699897, 26700117-26700120
287	EIF2B4	2	0.99938725490196	1	1632	27592334
288	ALK	2	0.99897182808966	5	4863	29451766, 29451774-29451777
289	SPAST	2	0.9151809832523	157	1851	32289019-32289030, 32289059-32289105, 32289120-32289125, 32289135-32289157, 32289164-32289173, 32289180-32289186, 32289190-32289213, 32289223-32289232, 32289252-32289254, 32289261-32289263, 32289301-32289302, 32289310, 32323921, 32340780-32340786, 32340863
290	CYP1B1	2	0.99264705882353	12	1632	38302177-38302188
291	SOS1	2	0.99750124937531	10	4002	39224506, 39224557-39224565
292	LRPPRC	2	0.99880525686977	5	4185	44161345-44161346, 44184583-44184585
293	MSH2	2	0.99857397504456	4	2805	47639572, 47639640, 47639646, 47709956
294	MSH6	2	0.99804065638011	8	4083	48010531-48010535, 48010556-48010557, 48010561
295	LHCGR	2	0.99666666666667	7	2100	48982764, 48982776-48982777, 48982782-48982785
296	NRXN1	2	0.99932203389831	3	4425	50765570-50765572
297	PEX13	2	0.99917491749175	1	1212	61258870
298	ATP6V1B1	2	0.99156939040208	13	1542	71163111, 71163130-71163140, 71187197
299	ALMS1	2	0.99832053742802	21	12504	73613028-73613047, 73828342
300	DCTN1	2	0.99765441751368	9	3837	74598113-74598114, 74598117-74598123
301	MOGS	2	0.99840891010342	4	2514	74689608-74689611
302	HTRA2	2	0.99782135076253	3	1377	74757366-74757367, 74757370
303	REEP1	2	0.94719471947195	32	606	86564602-86564633
304	EIF2AK3	2	0.99194270367055	27	3351	88887500, 88887530-88887547, 88887557-88887559, 88887606, 88887613, 88926730-88926732
305	TMEM127	2	0.99860529986053	1	717	96931088
306	RANBP2	2	0.90170542635659	951	9675	109347317-109347341, 109347874-109347880, 109347891, 109347900-109347903, 109351988-109352019, 109352037-109352055, 109352099-109352118, 109352138-109352145, 109352606-109352638, 109356968-109356969, 109357110-109357116, 109363178-109363217, 109365376-109365383, 109365400-109365429, 109365544-109365573, 109367751-109367757, 109367841-109367875, 109368046-109368052, 109368074-109368110, 109368412-109368440, 109369546-109369561, 109369915-109369948, 109370281-109370313, 109370344-109370375, 109370395-109370401, 109371385-109371402, 109371495-109371512, 109371632-109371633, 109371656-109371662, 109374869-109374872, 109374901-109374918, 109374949-109374977, 109378557, 109382748-109382754, 109382787-109382793, 109382889-109382895, 109382937-109382946, 109383052-109383058, 109383084-109383113, 109383137-109383148, 109383204-109383210, 109383246-109383274, 109383283-109383301, 109383315-109383321, 109383354-109383360, 109383568-109383574, 109383635-109383678, 109383768-109383780, 109383792-109383828, 109383885-109383891, 109384004-109384013, 109384164-109384170, 109384455-109384472, 109384505-109384511, 109384561-109384567, 109384597-109384634, 109384661-109384667
307	NPHP1	2	0.99803343166175	4	2034	110917759-110917761, 110917771
308	MERTK	2	0.99666666666667	10	3000	112656323-112656325, 112656329-112656330, 112656337, 112760702-112760705
309	GLI2	2	0.98739760554505	60	4761	121746080-121746083, 121746087, 121746090, 121746093-121746097, 121746162-121746166, 121746217, 121746225-121746229, 121746238-121746239, 121746242, 121746250, 121746374-121746404, 121746502, 121747406, 121747498
310	BIN1	2	0.99719416386083	5	1782	127808380, 127827639-127827642
311	PROC	2	0.98340548340548	23	1386	128180669-128180682, 128180690-128180691, 128180694-128180697, 128180701-128180703
312	CFC1	2	0.9985119047619	1	672	131280381
313	RAB3GAP1	2	0.99966055668703	1	2946	135848568
314	NEB	2	0.994993491539	100	19974	152421566, 152432668-152432696, 152432732-152432772, 152432781-152432787, 152432798-152432804, 152432814-152432819, 152432835-152432838, 152515595-152515599
315	SCN2A	2	0.99684280491858	19	6018	166170211-166170223, 166210918-166210920, 166221729, 166221741, 166237650
316	SCN1A	2	0.99966649991662	2	5997	166895933-166895934
317	SCN9A	2	0.99932591843613	4	5934	167094756, 167099109-167099111
318	HOXD13	2	0.99612403100775	4	1032	176957965-176957966, 176957979, 176957987
319	AGPS	2	0.96307536671725	73	1977	178333246-178333252, 178346787-178346791, 178346818, 178346824-178346883
320	TTN	2	0.99986034634107	14	100248	179559326, 179559358-179559365, 179650757-179650760, 179665141
321	CERKL	2	0.98749218261413	20	1599	182438480-182438490, 182438529-182438537
322	COL3A1	2	0.9945466939332	24	4401	189871669-189871686, 189871690-189871695
323	COL5A2	2	0.99977777777778	1	4500	189936769
324	SLC40A1	2	0.99941724941725	1	1716	190426730
325	PMS1	2	0.97320471596999	75	2799	190718666-190718669, 190718673-190718680, 190718689-190718694, 190718705-190718712, 190718718-190718724, 190718737, 190718751-190718773, 190718791-190718808
326	STAT1	2	0.99644917887261	8	2253	191841737-191841744
327	CASP8	2	0.99072356215213	15	1617	202151286-202151300
328	ALS2	2	0.99979895456373	1	4974	202626388
329	CPS1	2	0.99844548079058	7	4503	211455541-211455543, 211455563-211455566
330	ABCA12	2	0.99576271186441	33	7788	215798883-215798897, 215809794-215809800, 215809814-215809821, 215854176, 215854181, 215901771
331	SMARCAL1	2	0.99860383944154	4	2865	217347564-217347567
332	OBSL1	2	0.9840098400984	91	5691	220416391-220416440, 220435685-220435689, 220435714, 220435745-220435749, 220435752-220435753, 220435771-220435796, 220435901-220435902
333	COL4A4	2	0.99940758293839	3	5064	227896886, 227942743, 227942746
334	COL4A3	2	0.99940155595452	3	5013	228163474, 228163479-228163480
335	SLC19A3	2	0.99128101945003	13	1491	228563687-228563699
336	UGT1A1	2	0.99438202247191	9	1602	234668952-234668959, 234668962
337	D2HGDH	2	0.99489144316731	8	1566	242707161-242707167, 242707322
338	C20orf54	20	0.99787234042553	3	1410	744355-744357
339	AVP	20	0.88282828282828	58	495	3063623-3063675, 3063691, 3063763-3063764, 3063775, 3063793
340	C20orf7	20	0.98651252408478	14	1038	13773837-13773849, 13782211
341	SNTA1	20	0.97233201581028	42	1518	32031172, 32031350, 32031359, 32031378-32031416
342	HNF4A	20	0.99789473684211	3	1425	43052773-43052775
343	CD40	20	0.99760191846523	2	834	44756969-44756970
344	COL9A3	20	0.99951338199513	1	2055	61456341
345	CHRNA4	20	0.99893842887473	2	1884	61992495-61992496
346	KCNQ2	20	0.99579992363498	11	2619	62103724-62103727, 62103774-62103778, 62103788-62103789
347	SOX18	20	0.69437229437229	353	1155	62680512-62680748, 62680754-62680869
348	BACH1	21	0.99773857982813	5	2211	30715026, 30715032, 30715037, 30715040-30715041
349	IFNGR2	21	0.95463510848126	46	1014	34775850-34775877, 34775882-34775891, 34775896-34775897, 34775907-34775909, 34775916, 34775918, 34775921
350	CBS	21	0.9957729468599	7	1656	44483181-44483187
351	ITGB2	21	0.9952380952381	11	2310	46308644-46308650, 46308657-46308659, 46308662
352	COL18A1	21	0.9994301994302	3	5265	46875499, 46875508, 46875511
353	COL6A1	21	0.99643666990606	11	3087	47401784, 47401792-47401794, 47401802-47401804, 47401807-47401810
354	FTCD	21	0.99446494464945	9	1626	47565758-47565766
355	PCNT	21	0.99710318649486	29	10011	47832866-47832884, 47856015-47856024
356	PEX26	22	0.99019607843137	9	918	18561222-18561225, 18561228, 18561231-18561234
357	PRODH	22	0.99833610648918	3	1803	18923553-18923555
358	GP1BB	22	0.99355877616747	4	621	19711698-19711699, 19711718-19711719
359	TBX1	22	0.86962365591398	194	1488	19748428-19748601, 19753482-19753486, 19753503-19753507, 19753514, 19753926-19753927, 19753941-19753944, 19754014-19754016
360	CHEK2	22	0.9801249290176	35	1761	29083906-29083912, 29083946-29083965, 29085165-29085171, 29126415
361	NF2	22	0.99720357941834	5	1788	30074306, 30074309-30074312
362	MYH9	22	0.99711031786503	17	5883	36688074-36688080, 36688091-36688100
363	TRIOBP	22	0.97140039447732	203	7098	38119797-38119804, 38119856-38119905, 38120041, 38120048, 38120065, 38120140-38120156, 38120173-38120199, 38120394-38120450, 38120480-38120486, 38120754-38120786, 38122448
364	TNFRSF13C	22	0.90990990990991	50	555	42322242-42322249, 42322275, 42322289-42322329
365	CYB5R3	22	0.98454746136865	14	906	43045305-43045307, 43045311-43045321
366	MLC1	22	0.96825396825397	36	1134	50502466-50502494, 50502526, 50502605-50502610
367	TYMP	22	0.95790200138026	61	1449	50964435, 50964438, 50964470, 50964492-50964533, 50964738, 50964741, 50964800-50964804, 50964821-50964827, 50964832, 50965125
368	ARSA	22	0.99803149606299	3	1524	51063763-51063765
369	SHANK3	22	0.85964912280702	736	5244	51113070-51113132, 51135953-51136143, 51158730-51158988, 51159000-51159008, 51159015-51159024, 51159027-51159030, 51159034-51159040, 51159149, 51159159, 51159174-51159220, 51159328, 51169164, 51169198, 51169201, 51169206-51169207, 51169291-51169335, 51169436-51169437, 51169441, 51169444, 51169532-51169542, 51169552-51169565, 51169570-51169580, 51169606-51169614, 51169629-51169664, 51169688-51169694, 51169700
370	SUMF1	3	0.99555555555556	5	1125	4458816-4458820
371	FANCD2	3	0.97984601449275	89	4416	10088264-10088311, 10088340-10088346, 10091150-10091156, 10107165-10107171, 10114636-10114648, 10114941-10114947
372	BTD	3	0.99877450980392	2	1632	15686591-15686592
373	CRTAP	3	0.98258706467662	21	1206	33155583-33155590, 33155595, 33155635-33155644, 33155898, 33155907
374	MLH1	3	0.9929546455306	16	2271	37053338-37053353
375	SCN5A	3	0.99847172694855	9	5889	38592925-38592931, 38645437-38645438
376	TMIE	3	0.99346405228758	3	459	46743010-46743012
377	TMIE	3	0.99363057324841	3	471	46743010-46743012
378	COL7A1	3	0.99977362761743	2	8835	48627077, 48627121
379	RFT1	3	0.99384993849938	10	1626	53156417, 53156425, 53156429, 53156435, 53156445, 53156448, 53156460, 53156497-53156499
380	HESX1	3	0.98566308243728	8	558	57232266-57232273
381	ATXN7	3	0.90451021846371	271	2838	63898275-63898396, 63898414-63898415, 63898437-63898578, 63898585, 63898593, 63898597-63898599
382	GBE1	3	0.95969653864391	85	2109	81754627-81754661, 81754672-81754687, 81754690-81754705, 81754707-81754715, 81754741-81754749
383	POU1F1	3	0.9874213836478	12	954	87313646-87313657
384	PROS1	3	0.99212210733629	16	2031	93595996, 93596000, 93605199-93605205, 93617388-93617394
385	ARL6	3	0.99465240641711	3	561	97503857, 97503864, 97503888
386	CPOX	3	0.99267399267399	10	1365	98307565, 98311918-98311925, 98311943
387	NPHP3	3	0.96193338342099	152	3993	132431975, 132438549-132438674, 132441009-132441020, 132441029-132441040, 132441090
388	FOXL2	3	0.95844385499558	47	1131	138664664, 138664838-138664860, 138664868-138664890
389	PLOD2	3	0.97408871321915	59	2277	145804616-145804661, 145804675-145804679, 145804688-145804695
390	IFT80	3	0.99914089347079	2	2328	160000319, 160075355
391	PLD1	3	0.99627906976744	12	3225	171431800-171431810, 171431825
392	SOX2	3	0.98637316561845	13	954	181430221-181430224, 181430232-181430240
393	EIF2B5	3	0.99953831948292	1	2166	183862705
394	OPA1	3	0.99507874015748	15	3048	193354984-193354985, 193355028-193355030, 193355041-193355046, 193355050, 193355061, 193355069-193355070
395	IDUA	4	0.97349643221203	52	1962	996612-996627, 996634-996635, 996718-996721, 996724-996728, 996928-996945, 997145-997151
396	FGFR3	4	0.99629171817058	9	2427	1803097-1803098, 1808972-1808976, 1808979, 1808987
397	HTT	4	0.9931063739527	65	9429	3076618-3076623, 3076627-3076628, 3076632, 3076635-3076638, 3076641, 3076644, 3076647-3076678, 3076684-3076696, 3076723-3076726, 3241629
398	DOK7	4	0.97491749174917	38	1515	3465150, 3465233-3465251, 3465261-3465278
399	MSX1	4	0.99780701754386	2	912	4861920, 4861963
400	EVC2	4	0.99719887955182	11	3927	5578088-5578098
401	EVC	4	0.99899295065458	3	2979	5713119, 5809987-5809988
402	WFS1	4	0.99513655069211	13	2673	6279221-6279233
403	QDPR	4	0.99319727891156	5	735	17513648-17513649, 17513671, 17513676-17513677
404	CNGA1	4	0.98289473684211	39	2280	47954604-47954605, 47954607-47954612, 47954615, 47954618, 47954622-47954627, 47954641-47954647, 47954660, 47972948-47972950, 47972957-47972959, 47972977-47972981, 47972995, 47973006-47973007, 47973055
405	PDGFRA	4	0.99877675840979	4	3270	55154975-55154978
406	SLC4A4	4	0.99208523592085	26	3285	72306479-72306490, 72352671-72352684
407	CDS1	4	0.9992784992785	1	1386	85555017
408	PKD2	4	0.96766425868593	94	2907	88928926-88928928, 88928939-88928957, 88928965-88929012, 88973255-88973259, 88973278-88973292, 88973299-88973302
409	SNCA	4	0.9338061465721	28	423	90749294-90749319, 90749334-90749335
410	MANBA	4	0.99242424242424	20	2640	103611753-103611772
411	CISD2	4	0.92647058823529	30	408	103808512-103808522, 103808569-103808587
412	ANK2	4	0.99991578238167	1	11874	114271391
413	BBS7	4	0.92737430167598	156	2148	122756402, 122766660, 122766674-122766686, 122766713-122766715, 122775859-122775885, 122775898, 122775903, 122775908-122775918, 122775921-122775975, 122782697, 122782748-122782751, 122782761-122782771, 122782789-122782790, 122782810-122782834
414	GLRB	4	0.94779116465863	78	1494	158041708-158041739, 158041753-158041793, 158060014-158060016, 158060019-158060020
415	ETFDH	4	0.99946062567422	1	1854	159616676
416	GK	4	0.95728038507822	71	1662	166199165, 166199361, 166199390, 166199426, 166199429, 166199563-166199610, 166199758-166199766, 166200115-166200121, 166200324, 166200361
417	SDHA	5	0.94887218045113	102	1995	223682-223683, 224475, 228322, 228381, 228396, 233595, 236646-236681, 251143-251149, 251500-251506, 251562-251583, 254571-254577, 254606-254621
418	TERT	5	0.98470138275964	52	3399	1280365-1280371, 1293791-1293792, 1294581-1294586, 1294718-1294719, 1294731-1294737, 1294905, 1294998, 1295029, 1295064, 1295076-1295093, 1295099-1295104
419	SLC6A3	5	0.99946323134729	1	1863	1403165
420	DNAH5	5	0.99091891891892	126	13875	13708232-13708241, 13727678, 13727684-13727689, 13727708-13727711, 13862737, 13883158-13883164, 13916457-13916526, 13916554-13916564, 13919314-13919316, 13928260-13928272
421	FAM134B	5	0.99799196787149	3	1494	16616850-16616851, 16616854
422	NIPBL	5	0.97516339869281	209	8415	37036481-37036589, 37048604-37048631, 37048653-37048660, 37048663-37048665, 37048668-37048678, 37048707-37048739, 37048754-37048759, 37048767-37048777
423	LIFR	5	0.96994535519126	99	3294	38482700-38482769, 38490323-38490324, 38490336, 38490356-38490380, 38506047
424	OXCT1	5	0.97504798464491	39	1563	41862753-41862770, 41862785, 41862793-41862797, 41862804, 41862808-41862817, 41862842-41862843, 41862846-41862847
425	ITGA2	5	0.99971799210378	1	3546	52347277
426	ERCC8	5	0.99748110831234	3	1191	60200648-60200650
427	NDUFAF2	5	0.99607843137255	2	510	60394823, 60394835
428	SMN2	5	0.99209039548023	7	885	69372350-69372356
429	HEXB	5	0.99940155595452	1	1671	73981110
430	AP3B1	5	0.99391171993912	20	3285	77311254, 77311345-77311351, 77311361-77311364, 77334915, 77411986-77411987, 77411997-77411998, 77536759-77536760, 77563400
431	RASA1	5	0.96151399491094	121	3144	86633796, 86633809, 86633812-86633814, 86642538, 86669980-86670000, 86670005-86670008, 86670030-86670035, 86670048, 86670055-86670137
432	MEF2C	5	0.9634317862166	52	1422	88024342-88024346, 88024352-88024394, 88024411-88024414
433	GPR98	5	0.99577189366313	80	18921	89914903-89914905, 89914917, 89925031, 89925131, 89933622, 89933697, 89939652, 89939718, 89948325-89948336, 90004633, 90007063, 90020703, 90020709, 90020717-90020726, 90020731, 90020734-90020737, 90049416, 90049613, 90049618, 90124763-90124768, 90124771, 90144503, 90144551-90144556, 90144613-90144618, 90144623-90144638
434	WDR36	5	0.99544817927171	13	2856	110436323-110436325, 110436351-110436352, 110436394, 110436418-110436420, 110441756-110441758, 110448777
435	APC	5	0.99953117674637	4	8532	112102941, 112103082, 112128179, 112128215
436	HSD17B4	5	0.99864314789688	3	2211	118835120, 118835206, 118861682
437	HSD17B4	5	0.99645390070922	1	282	118861682
438	FBN2	5	0.99290536674677	62	8739	127645082, 127645085, 127645746, 127645750-127645754, 127702070-127702123
439	MYOT	5	0.95858383433534	62	1497	137221797-137221798, 137221804-137221839, 137221844-137221851, 137221868-137221882, 137222920
440	MATR3	5	0.99685534591195	8	2544	138651768, 138653369, 138658504, 138658510-138658512, 138658515, 138658538
441	NDUFA2	5	0.98666666666667	4	300	140027143-140027145, 140027148
442	DIAPH1	5	0.99528672427337	18	3819	140907263-140907264, 140909181-140909183, 140953309, 140953393, 140953531-140953536, 140953560, 140953563, 140953571, 140953753, 140953756
443	NSD1	5	0.99826968236312	14	8091	176673746-176673759
444	GRM6	5	0.9874715261959	33	2634	178416053, 178421893-178421916, 178421936-178421937, 178421940-178421945
445	FLT4	5	0.99975562072336	1	4092	180076531
446	FOXC1	6	0.98074608904934	32	1662	1610856-1610859, 1611524-1611526, 1611654, 1611707-1611708, 1611805, 1611814, 1611917-1611928, 1612018-1612021, 1612024, 1612142-1612144
447	TUBB2B	6	0.97907324364723	28	1338	3225160-3225161, 3225249-3225274
448	DTNBP1	6	0.99715909090909	3	1056	15663098-15663100
449	ATXN1	6	0.95996732026144	98	2448	16327862-16327959
450	HLA-H	6	0.94933333333333	38	750	29856303, 29856330, 29856347, 29856364-29856368, 29856397, 29856406, 29856516, 29856525, 29856534, 29856546, 29856565, 29856593-29856614, 29856643
451	TNXB	6	0.92120269569725	152	1929	31976896-31976929, 31977388-31977394, 31977525-31977555, 31977994-31978002, 31978498-31978517, 31979476-31979482, 31979960-31980003
452	CYP21A2	6	0.97043010752688	44	1488	32006215-32006217, 32006317, 32006337, 32006886, 32008870-32008907
453	TNXB	6	0.99560059706183	56	12729	32009648-32009664, 32010123-32010129, 32010269-32010275, 32010728-32010736, 32011235, 32011248, 32012330-32012336, 32012814-32012820
454	HLA-DQA1	6	0.87239583333333	98	768	32605281, 32605295, 32609169, 32609173, 32609192, 32609195, 32609199, 32609221-32609224, 32609227, 32609231, 32609239-32609241, 32609277-32609279, 32609297-32609299, 32609325-32609331, 32609868-32609869, 32609873, 32609948-32609977, 32610002, 32610008-32610009, 32610387-32610407, 32610428, 32610436, 32610461, 32610463-32610465, 32610495, 32610525-32610526, 32610534-32610535, 32610538
455	HLA-DQB1	6	0.71501272264631	224	786	32629124-32629173, 32629193-32629194, 32629199, 32629224-32629234, 32629755, 32629764, 32629783, 32629787, 32629800-32629802, 32629809, 32629847, 32632575-32632614, 32632631, 32632650, 32632666-32632669, 32632675-32632688, 32632700, 32632705, 32632710-32632717, 32632724-32632747, 32632758-32632798, 32632820, 32632835, 32634300-32634302, 32634318, 32634321, 32634326-32634327, 32634330-32634331, 32634369-32634373
456	COL11A2	6	0.99405104586452	31	5211	33138149-33138155, 33140133-33140144, 33140354-33140365
457	SYNGAP1	6	0.93080357142857	279	4032	33388042-33388108, 33393594, 33393608-33393611, 33393614-33393653, 33393655-33393660, 33393663-33393669, 33393680, 33410981, 33411500-33411584, 33411598, 33411603-33411608, 33411618-33411677
458	PEX6	6	0.99592252803262	12	2943	42936678-42936689
459	CUL7	6	0.99960761232097	2	5097	43016200-43016201
460	RUNX2	6	0.96424010217114	56	1566	45390358, 45390415-45390469
461	CD2AP	6	0.99479166666667	10	1920	47548612, 47563643-47563646, 47563657-47563659, 47563685, 47563692
462	MUT	6	0.94718153573014	119	2253	49409553-49409611, 49409622-49409646, 49409649-49409662, 49409667, 49409672, 49409679-49409684, 49419182, 49419283-49419284, 49419288, 49421403, 49423844-49423850, 49423898
463	PKHD1	6	0.9919836400818	98	12225	51497413, 51611546, 51929753-51929848
464	EYS	6	0.98569157392687	135	9435	65098627-65098639, 65098646, 65300660-65300671, 65523288-65523296, 65523316-65523324, 65523330, 65523335, 65523348-65523350, 65523391, 65523399-65523401, 65523427, 65523437, 65596611-65596620, 65596639-65596643, 65707580-65707581, 66005848, 66005877-66005878, 66005882, 66005888-66005894, 66005912-66005921, 66063424-66063435, 66094280-66094281, 66094294-66094295, 66094298-66094299, 66200487-66200510
465	LMBRD1	6	0.99568699938386	7	1623	70407458, 70407461, 70410736-70410738, 70462192, 70462205
466	COL9A1	6	0.99710773680405	8	2766	70926750-70926757
467	RIMS1	6	0.99291199054932	36	5079	73108753-73108780, 73108789-73108796
468	LCA5	6	0.99952244508118	1	2094	80196763
469	BCKDHB	6	0.90330788804071	114	1179	80881001-80881007, 80881027-80881093, 80881106-80881107, 80982895-80982921, 81053492-81053502
470	NDUFAF4	6	0.98295454545455	9	528	97338991, 97339004, 97339009-97339013, 97339024, 97339078
471	PDSS2	6	0.99916666666667	1	1200	107780274
472	OSTM1	6	0.98606965174129	14	1005	108395699-108395705, 108395717-108395723
473	FIG4	6	0.9992657856094	2	2724	110064360, 110081478
474	WISP3	6	0.99374441465594	7	1119	112389565, 112389569, 112389578-112389581, 112389586
475	COL10A1	6	0.9990210474792	2	2043	116442370, 116446640
476	GJA1	6	0.99390774586597	7	1149	121768922-121768928
477	LAMA2	6	0.99989319662501	1	9363	129371063
478	ARG1	6	0.9938080495356	6	969	131904290-131904295
479	ENPP1	6	0.9902807775378	27	2778	132171184, 132203493-132203494, 132203505-132203521, 132203528-132203531, 132203540, 132203555-132203556
480	AHI1	6	0.99721526037316	10	3591	135751039-135751047, 135759521
481	PEX7	6	0.93827160493827	60	972	137167260-137167319
482	IFNGR1	6	0.99455782312925	8	1470	137524691-137524698
483	PEX3	6	0.99286987522282	8	1122	143792185, 143792566-143792572
484	EPM2A	6	0.99598393574297	4	996	146056520-146056523
485	SYNE1	6	0.99909070243237	24	26394	152545787-152545798, 152552701-152552702, 152716679-152716682, 152716687-152716689, 152819883-152819885
486	PARK2	6	0.99856938483548	2	1398	161969953-161969954
487	TBP	6	0.93921568627451	62	1020	170871017-170871027, 170871034-170871056, 170871062-170871065, 170871070-170871089, 170871099-170871102
488	LFNG	7	0.80087719298246	227	1140	2559496-2559588, 2559598-2559642, 2559665-2559669, 2559672-2559675, 2559678, 2559683, 2559687, 2559732-2559733, 2559755-2559807, 2559829-2559841, 2559844-2559850, 2559872, 2559881
489	PMS2	7	0.98339127076091	43	2589	6013046-6013052, 6013150-6013156, 6026959, 6026988, 6027002, 6029479-6029483, 6029489, 6029503-6029507, 6029510, 6043644, 6043658, 6043666, 6045523-6045533
490	TWIST1	7	0.74220032840722	157	609	19156648-19156651, 19156775, 19156793-19156944
491	DNAH11	7	0.99528440907751	64	13572	21630536-21630586, 21630633-21630640, 21630927, 21630932-21630935
492	HOXA13	7	0.85946872322194	164	1167	27239305, 27239309-27239314, 27239332, 27239339-27239345, 27239349, 27239360-27239471, 27239477-27239481, 27239499-27239502, 27239522-27239527, 27239544-27239547, 27239557-27239565, 27239570, 27239574-27239580
493	BBS9	7	0.98310810810811	45	2664	33303902-33303928, 33303953, 33303971-33303986, 33384240
494	TXNDC3	7	0.9926428975665	13	1767	37916533-37916536, 37916541-37916542, 37916569-37916574, 37916593
495	CCM2	7	0.97752808988764	30	1335	45039933-45039962
496	EGFR	7	0.99889898155794	4	3633	55087012-55087015
497	KCTD7	7	0.98735632183908	11	870	66094084-66094090, 66094159, 66094164, 66094170, 66094176
498	SBDS	7	0.99070385126162	7	753	66456158-66456164
499	NCF1	7	0.98181818181818	15	825	72639983-72639989, 72648742-72648749
500	ELN	7	0.99172413793103	18	2175	73442537-73442554
501	NCF1	7	0.97783461210571	26	1173	74193668, 74193718, 74197388, 74202425, 74202903-74202923, 74203012
502	HGF	7	0.99908550525834	2	2187	81340808-81340809
503	ABCB4	7	0.99947916666667	2	3840	87074280-87074281
504	AKAP9	7	0.99829409757762	20	11724	91609604, 91609632, 91609643-91609644, 91630266, 91690712, 91695776, 91727485, 91736711-91736722
505	KRIT1	7	0.99683401175938	7	2211	91852165-91852166, 91852184, 91867061-91867063, 91867073
506	PEX1	7	0.99532710280374	18	3852	92134141, 92140297-92140308, 92140311-92140312, 92140315-92140317
507	COL1A2	7	0.99244086808096	31	4101	94027060-94027062, 94030915-94030923, 94044571, 94049725-94049730, 94049908-94049911, 94049920-94049923, 94058739-94058742
508	SGCE	7	0.99926253687316	1	1356	94259055
509	SLC25A13	7	0.99113737075332	18	2031	95751294-95751297, 95775876-95775889
510	SLC26A5	7	0.99865771812081	3	2235	103017307-103017309
511	SLC26A3	7	0.99956427015251	1	2295	107432275
512	IFRD1	7	0.99852507374631	2	1356	112101970, 112102137
513	CFTR	7	0.96398829619626	160	4443	117188713-117188753, 117188760-117188800, 117188838-117188853, 117234990, 117235052-117235112
514	AASS	7	0.99964041711615	1	2781	121769496
515	IMPDH1	7	0.99944444444444	1	1800	128049839
516	ATP6V0A4	7	0.98731668648434	32	2523	138394375-138394381, 138394398-138394407, 138394413-138394421, 138394428-138394429, 138394432-138394434, 138394452
517	BRAF	7	0.99826162538027	4	2301	140624406-140624409
518	PRSS1	7	0.87768817204301	91	744	142458434-142458454, 142459625-142459629, 142459664-142459682, 142459868-142459878, 142460313, 142460335, 142460339, 142460366-142460397
519	CLCN1	7	0.99966295921807	1	2967	143047475
520	CNTNAP2	7	0.99224224224224	31	3996	145813984-145813988, 145813994-145813997, 147914520-147914541
521	KCNH2	7	0.98218390804598	62	3480	150644694-150644712, 150644721-150644730, 150671862-150671863, 150671866, 150671886, 150671909, 150671933-150671934, 150671943-150671951, 150671956-150671966, 150674974, 150674997-150675001
522	SHH	7	0.99208063354932	11	1389	155595769, 155595785, 155595791-155595799
523	MNX1	7	0.86152570480929	167	1206	156799264-156799270, 156799275-156799286, 156799289-156799293, 156802546, 156802655-156802780, 156802788, 156802800-156802803, 156802896-156802901, 156802905-156802906, 156802917-156802919
524	CLN8	8	0.99535423925668	4	861	1728683-1728686
525	GATA4	8	0.99924755455229	1	1329	11614547
526	ASAH1	8	0.99579124579125	5	1188	17922010-17922013, 17922023
527	ADAM9	8	0.99959349593496	1	2460	38880687
528	ANK1	8	0.99841938883035	9	5694	41575644-41575652
529	HGSNAT	8	0.99895178197065	2	1908	42995703, 42995709
530	RP1	8	0.99984546437954	1	6471	55533685
531	CHD7	8	0.9998888147654	1	8994	61749460
532	EYA1	8	0.99943788645306	1	1779	72246388
533	CA2	8	0.99872286079183	1	783	86386025
534	NBN	8	0.99955849889625	1	2265	90996774
535	DECR1	8	0.99603174603175	4	1008	91029480-91029483
536	TMEM67	8	0.98895582329317	33	2988	94777684-94777703, 94777862-94777870, 94777874, 94828673-94828674, 94828679
537	GDF6	8	0.97880116959064	29	1368	97157374-97157381, 97157407-97157427
538	VPS13B	8	0.99508087377022	59	11994	100123419-100123423, 100123460-100123465, 100123472, 100123484, 100146867-100146870, 100146891, 100146926, 100146945, 100146948, 100287399-100287400, 100287412, 100287416, 100287444, 100287456, 100287461, 100513962-100513963, 100513980-100513986, 100514043, 100587968-100587975, 100836125-100836128, 100836133-100836141
539	GRHL2	8	0.9989350372737	2	1878	102589637, 102631800
540	KCNQ3	8	0.97823596792669	57	2619	133492640, 133492643-133492649, 133492659-133492674, 133492677-133492682, 133492742-133492743, 133492755-133492779
541	TG	8	0.99987961959793	1	8307	133882071
542	CYP11B1	8	0.95634920634921	66	1512	143958151-143958157, 143958288-143958294, 143958513-143958533, 143958572-143958602
543	CYP11B2	8	0.93518518518519	98	1512	143993949-143993994, 143994026-143994032, 143994263-143994282, 143994702, 143996539, 143996553, 143998608-143998629
544	PLEC	8	0.99494841693348	71	14055	144993734-144993739, 144993743, 144994457-144994463, 144996220-144996229, 144996232-144996233, 144996236-144996253, 144996257-144996260, 144996535, 144996538-144996543, 144996546, 144996551-144996553, 144998905-144998907, 144998913, 144998916, 144998930-144998931, 144998942-144998945, 145003815
545	GPT	8	0.99195171026157	12	1491	145730871-145730872, 145731271-145731272, 145731284-145731287, 145731918, 145731925-145731927
546	KCNV2	9	0.996336996337	6	1638	2718750, 2718761, 2718764-2718767
547	GLIS3	9	0.99498746867168	14	2793	4118022-4118023, 4118027-4118029, 4118039, 4118049-4118056
548	JAK2	9	0.97116799058547	98	3399	5069939-5069944, 5077453-5077535, 5077562-5077570
549	GNE	9	0.99336870026525	15	2262	36217446-36217460
550	FXN	9	0.99842022116904	1	633	71668128
551	VPS13A	9	0.97060367454068	280	9525	79824350-79824353, 79824419, 79843142-79843145, 79843161, 79891115-79891118, 79895079, 79896794-79896799, 79896808-79896842, 79897101-79897103, 79897106-79897110, 79897137-79897138, 79897159-79897165, 79897173-79897176, 79897182-79897186, 79898373-79898379, 79908401-79908424, 79928927-79928928, 79931155, 79931165-79931169, 79932522-79932614, 79934518, 79938068, 79946993-79946995, 79955099, 79959098, 79959105, 79974300, 79974305-79974307, 79974317-79974318, 79975452, 79996900-79996906, 79996909, 79996925-79996949, 79996961-79996974, 79996993-79996996
552	ROR2	9	0.99964689265537	1	2832	94486022
553	PTCH1	9	0.99907918968692	4	4344	98231419-98231422
554	HSD17B3	9	0.9957127545552	4	933	99003118-99003121
555	FOXE1	9	0.98128342245989	21	1122	100616701-100616714, 100616719-100616725
556	TGFBR1	9	0.98809523809524	18	1512	101867544-101867552, 101867555, 101867558-101867564, 101900157
557	FKTN	9	0.998556998557	2	1386	108370202, 108380355
558	DFNB31	9	0.99449339207048	15	2724	117266965, 117267004-117267016, 117267020
559	LMX1B	9	0.99106344950849	10	1119	129456031, 129456034-129456038, 129456066-129456069
560	ENG	9	0.9934243803743	13	1977	130587985-130587988, 130588010-130588017, 130588028
561	SETX	9	0.99887976101568	9	8034	135139869-135139871, 135139881-135139883, 135202224-135202226
562	CEL	9	0.95552619991193	101	2271	135937446-135937452, 135944192-135944198, 135944521-135944527, 135946665, 135946698, 135946731, 135946764, 135946797, 135946820-135946827, 135946830-135946832, 135946838-135946867, 135946878-135946887, 135946889, 135946903, 135946906, 135946915-135946935
563	SURF1	9	0.98560354374308	13	903	136223175, 136223293-136223295, 136223307, 136223311-136223318
564	ADAMTS13	9	0.99743230625584	11	4284	136293755, 136293788-136293789, 136293792, 136293809, 136293824-136293827, 136293878, 136295075
565	COL5A1	9	0.99202465107848	44	5517	137534047-137534087, 137534128-137534129, 137534132
566	LHX3	9	0.92803970223325	87	1209	139090608, 139090845-139090889, 139094833-139094869, 139094882-139094885
567	INPP5E	9	0.98346253229974	32	1935	139333150, 139333155-139333169, 139333316-139333321, 139333324, 139333330-139333334, 139333343-139333346
568	AGPAT2	9	0.94026284348865	50	837	139581760-139581809
569	SLC34A3	9	0.97777777777778	40	1800	140128315-140128353, 140128380
570	SHOX	X	0.99886234357224	1	879	595461
571	ARSE	X	0.99943502824859	1	1770	2852951
572	FANCB	X	0.99883720930233	3	2580	14871227-14871228, 14871231
573	ARX	X	0.99703966844287	5	1689	25031657-25031658, 25031664-25031666
574	RPGR	X	0.9230991616074	266	3459	38145369-38145456, 38145471-38145484, 38145517-38145625, 38145635-38145686, 38145702-38145704
575	NYX	X	0.99585062240664	6	1446	41333523-41333528
576	WAS	X	0.9973492379059	4	1509	48547208-48547211
577	AR	X	0.98443720593558	43	2763	66765173-66765174, 66765183-66765203, 66766375-66766394
578	MED12	X	0.99892868074686	7	6534	70338605-70338607, 70338661, 70361098-70361100
579	TAF1	X	0.98680042238648	75	5682	70586170-70586223, 70586226-70586232, 70586255-70586257, 70586268-70586272, 70586300-70586305
580	SLC16A2	X	0.99294245385451	13	1842	73641363-73641368, 73641371, 73641374, 73641377, 73641385, 73641401-73641403
581	BRWD3	X	0.99057127010538	51	5409	79991556-79991587, 80064952-80064970
582	SLC6A8	X	0.958071278826	80	1908	152954105-152954169, 152954180-152954186, 152954225, 152954235-152954241
583	ABCD1	X	0.99329758713137	15	2238	153008473-153008486, 153008984
584	MECP2	X	0.96993987975952	45	1497	153363066-153363068, 153363074-153363081, 153363087, 153363090-153363122
585	OPN1MW	X	0.97808219178082	24	1095	153457286-153457309
586	OPN1MW	X	0.97808219178082	24	1095	153494404-153494427

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
5	APC-E1317Q	het unknown	0.008	Dominant pathogenic	Moderate clinical importance, likely	This rare variant is strongly associated with causing colon cancer. Lamlum et al. found an odds ratio of 11.17 for colorectal cancer with multiple adenomas, which seems to indicate a moderate or high penetrance effect.
5	APC-V1822D	homozygous	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	C3-P314L	het unknown	0.079	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2.5	C3-R102G	het unknown	0.053	Complex/Other pathogenic	Moderate clinical importance, likely	This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.
2.5	POLG-Q1236H	het unknown	0.031	Complex/Other pathogenic	Low clinical importance, uncertain	Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.
2.5	ACY1-R393H	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.9 (probably damaging)
2.5	COL4A1-Q1334H	het unknown	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	HABP2-E393Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.045 (benign), Testable gene in GeneTests
2.5	HABP2-G534E	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 5 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
2	NEFL-Q537R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2	NEFL-S472Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
2	XYLT1-P385L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
2	XYLT1-A115S	het unknown	0.009	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.036 (benign)
2	TGIF1-P83Shift	homozygous	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.
2	OPTN-M98K	het unknown	0.055	Unknown pathogenic	Moderate clinical importance, uncertain	This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.
2	OPTN-K322E	homozygous	0.986	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
2	APOE-C130R	homozygous	0.010	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests
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	IL23R-Q3H	het unknown	0.501	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
1.5	IL23R-L310P	homozygous	0.884	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1.5	IL23R-R381Q	het unknown	0.029	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.997 (probably damaging)
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.
1.25	SP110-M523T	het unknown	0.319	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25	SP110-L425S	het unknown	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.
1.25	SP110-G299R	het unknown	0.822	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25	SP110-A206V	het unknown	0.142	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25	SP110-W112R	het unknown	0.945	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CD226-S307G	homozygous	0.423	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	ZNF167-N494Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	DQ580909-W60R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	DQ580909-S171*	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	COL7A1-P595L	homozygous	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	LYZ-T88N	homozygous	0.021	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
1	DL492456-R148H	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	DL492456-Y109C	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	DL492456-W104*	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	C19orf55-G398Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	FRZB-R200W	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.999 (probably damaging)
1	PLEKHA2-P389Shift	homozygous	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HSH2D-S223Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	C2orf83-W141*	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	C2orf83-E104Q	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	C2orf83-S45L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	INSR-A2G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	SH2B3-W262R	homozygous	0.768	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	TTN-I32964T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-R32018H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-R29962H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I26820T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I25199V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-T24045M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-R22371C	het unknown		Unknown	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-V19783I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-T18827I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-P17286L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-R16903H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-N16125D	het unknown	0.469	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I9278V	het unknown	0.450	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-N7559S	het unknown	0.231	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S7181N	het unknown	0.232	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-E6900A	het unknown	0.226	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-D6218H	het unknown	0.233	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S3419N	homozygous	0.850	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V3261M	homozygous	0.840	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	homozygous	0.519	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-T811I	het unknown	0.146	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-E190Shift	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
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	SCN4A-N1376D	homozygous	0.604	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	SCN4A-L801F	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	SCN4A-S524G	homozygous	0.938	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ATG9B-A765Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ATG9B-N493S	het unknown	0.079	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CILP-G1166S	homozygous	0.766	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CILP-Q979R	homozygous	0.986	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CILP-K575E	homozygous	0.974	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CILP-I395T	het unknown	0.491	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	AIM1-C491R	homozygous	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	AX746964-G175Shift	homozygous	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AX746964-K166I	homozygous	0.628	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	SYNE1-F7302V	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	SYNE1-L5015M	homozygous	0.866	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	SYNE1-S4596T	homozygous	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	SYNE1-K4121R	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	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
1	SYNE1-N1915Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
1	ZFPM1-R22G	het unknown	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZFPM1-K431N	het unknown	0.096	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	CUL7-Q813R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	PALB2-G998E	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	PALB2-V932M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	PALB2-E672Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.952 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	PALB2-Q559R	het unknown	0.160	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	NPRL3-L489Shift	homozygous	0.048	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-A221S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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-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-SK75RQ	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-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-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-T130I	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-A172T	het unknown	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-R87P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 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-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	het unknown	0.053	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-D12G	homozygous	0.395	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CHRNA5-D398N	het unknown	0.158	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign)
1	IL13-Q144R	homozygous	0.766	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	ENO3-N71S	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	ENO3-V85A	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	HTT-Y2309H	homozygous	0.459	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HTT-V2786I	homozygous	0.193	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	KCP-H313Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KCP-A16Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AP1S2-T35A	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	AP1S2-R29P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	CPN2-V536M	het unknown	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	het unknown	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests
1	KRT4-G160GAGGFGAGFGTGGFG	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	MAPT-P202L	het unknown	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	MAPT-Q230R	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.895 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	MAPT-D285N	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
1	MAPT-V289A	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	MAPT-R370W	het unknown	0.116	Unknown benign	Low clinical importance, uncertain	Probably benign.
1	MAPT-S447P	het unknown	0.055	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	MTHFD1-K134R	homozygous	0.846	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	MTHFD1-R653Q	homozygous	0.320	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign)
1	TLR3-L66S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	TLR3-L412F	homozygous	0.200	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
1	PIK3R6-L609Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	BBS12-R386Q	homozygous	0.515	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
1	BBS12-D467N	homozygous	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	AX746903-T82Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AX746903-Q107Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ADH1B-H48R	homozygous	0.678	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	SEBOX-L207S	het unknown	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	ICAM1-G241R	het unknown	0.060	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.948 (probably damaging)
1	ICAM1-K469E	homozygous	0.297	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	IDI2-W144*	homozygous	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	AMPD1-P48L	het unknown	0.047	Unknown benign	Low clinical importance, uncertain	Probably benign, ancestral to15173240 pathogenic Q12X mutation.
1	AMPD1-Q12*	het unknown	0.041	Recessive pathogenic	Low clinical importance, likely	Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.
1	PTPN22-W620R	homozygous	0.970	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	CYP2C9-I359L	het unknown	0.016	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.048 (benign)
1	ANXA11-R230C	homozygous	0.382	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
1	HRNR-S799T	homozygous	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-F669S	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-D668C	het unknown	0.057	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-Q519P	het unknown	0.067	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-G492E	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	HRNR-G492R	het unknown	0.588	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-H491Y	het unknown	0.053	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-G490S	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	HRNR-E473G	homozygous	0.951	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-G427D	het unknown	0.357	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-H273Q	het unknown	0.383	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-R85H	homozygous	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	CHIT1-G102S	het unknown	0.268	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1	SLCO1A2-E172D	het unknown	0.029	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging)
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	F5-M413T	het unknown	0.041	Unknown benign	Low clinical importance, uncertain	Presumed benign. This variant is not particularly rare and has not been reported to cause disease.
1	KRTAP7-1-I61S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	KRTAP7-1-S51P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	KRTAP7-1-Y17Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCARF2-A832G	homozygous		Unknown not reviewed	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
1	DPYD-M166V	het unknown	0.050	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
1	DPYD-R29C	homozygous	0.731	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	H2BFM-Q73*	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	PADI6-V343Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	PLEKHG5-G866S	homozygous	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
1	PLEKHG5-M496V	homozygous	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.795 (possibly damaging), Testable gene in GeneTests
1	PLEKHG5-T294S	homozygous	0.267	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	TCEAL6-Q175Shift	homozygous	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	MS4A14-I56Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	MS4A14-N177Y	het unknown	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.981 (probably damaging)
1	MS4A14-G584R	het unknown	0.513	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
1	MS4A14-Q612H	het unknown	0.113	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.952 (probably damaging)
1	B3GNT6-L316Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	B3GNT6-L335Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	BC112980-K147Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	DGKK-D1111N	homozygous	0.145	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	DGKK-L1014Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ITIH5L-W1041S	homozygous	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
1	TIRAP-S180L	het unknown	0.073	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	FUT2-W154*	homozygous	0.364	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	FUT2-G258S	homozygous	0.390	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.954 (probably damaging)
1	HADHB-T2TT	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	ZNF480-C3Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZNF480-P177S	het unknown	0.161	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.486 (possibly 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	ZNF761-G528S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF761-E603Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-Q860Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	VSIG10L-R615P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-R592Q	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-M356I	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-N3T	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	DEFB126-Q55Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	DEFB126-P106Shift	homozygous	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CYP1B1-N453S	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1	CYP1B1-V432L	homozygous	0.547	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CYP1B1-R48G	het unknown	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, 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	homozygous	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	ABCC6-V614A	homozygous	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
0.75	KCNJ11-V337I	het unknown	0.761	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	KCNJ11-K23E	het unknown	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.
0.625	MTRR-I49M	het unknown	0.313	Recessive pathogenic	Low clinical importance, likely	This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
0.625	MTRR-S202L	homozygous	0.285	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, 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	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	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	LRP11-P92R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (probably damaging)
0.5	TACC2-S245Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	TACC2-S245Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	TACC2-W1103R	homozygous	0.964	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
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-T2482M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	TACC2-S2909T	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.981 (probably damaging)
0.5	SLC22A2-S270A	homozygous	0.876	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	GHRHR-T6I	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NPSR1-N107I	het unknown	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	NPSR1-C197F	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	NPSR1-S241R	homozygous	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.019 (benign)
0.5	DNAH11-E34L	homozygous	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T400I	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-A568T	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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-D1640G	het unknown	0.044	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-N2641S	het unknown	0.367	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-A3474T	het unknown	0.501	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-V3715L	het unknown	0.452	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	DNAH11-T4177I	het unknown	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PNLIPRP3-S179Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	PNLIPRP3-V381I	homozygous	0.933	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PNLIPRP3-R382G	homozygous	0.945	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SBF2-L1098V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SBF2-E679K	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PMS2-K541E	homozygous	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	EYS-L1873V	het unknown	0.081	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-S1517G	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-R1515W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-I1451T	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 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-I1361V	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-Q1325E	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-I1263V	het unknown	0.098	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-Q571R	het unknown	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
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	CDK5RAP2-V1540L	homozygous	0.714	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDK5RAP2-E289Q	het unknown	0.801	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FAM75D1-P196T	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.994 (probably damaging)
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-R364H	homozygous	0.968	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-S11R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BTNL2-S360G	het unknown	0.332	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BTNL2-K196E	het unknown	0.343	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BTNL2-D118N	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
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	ZCCHC6-K937Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ZCCHC6-R560Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	COL11A2-E276K	homozygous	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	RANBP6-M388L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	GSTA3-N73D	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.971 (probably damaging)
0.5	NR_024390-W43*	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	NR_024390-A104P	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PKHD1-Q4048R	het unknown	0.566	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-Q3899R	het unknown	0.546	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-R3842L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-T579M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USP20-D359Del	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	USP20-V444I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.97 (probably damaging)
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	PEX6-P939Q	homozygous	0.339	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AARS2-V730M	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging)
0.5	AARS2-I339V	homozygous	0.863	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EGFR-R521K	het unknown	0.259	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HABP2-T50M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AX747124-C9Y	homozygous	0.977	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AX747124-C51Shift	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	AX747124-R83C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	AX747124-K103T	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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-A761V	het unknown	0.504	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-P828S	het unknown	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MLL3-R1092*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	MLL3-G845E	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	MLL3-L291F	het unknown	0.193	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.96 (probably damaging)
0.5	RBP3-R346H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
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	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	NOS3-D298E	homozygous	0.844	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SETX-I2587V	het unknown	0.591	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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	CCDC7-L77Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NOXA1-E252Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NOXA1-P286L	het unknown	0.184	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.037 (benign)
0.5	NOTCH1-R1279H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SNAPC4-H799Q	homozygous	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	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	TUBAL3-R250W	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	AK094914-K152N	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	AK094914-T33Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	AK094914-C16Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	AK094914-A13Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ASAH1-V246A	homozygous	0.797	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ASAH1-D124E	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ASAH1-I93V	het unknown	0.384	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ASAH1-V72M	het unknown	0.386	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
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	CNGB3-E755G	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5	WBSCR28-I14N	het unknown	0.577	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	WBSCR28-W78R	het unknown	0.594	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.022 (benign)
0.5	WBSCR28-G137S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.866 (probably damaging)
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-K2484R	het unknown	0.075	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 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	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	CALHM1-L86P	homozygous	1.000	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SBDS-I212T	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ZDHHC6-D41N	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.92 (probably damaging)
0.5	COL17A1-D1370G	het unknown	0.257	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-M703V	homozygous	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	homozygous	0.557	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ZC3H3-P857S	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.994 (probably damaging)
0.5	ZC3H3-S452G	homozygous	0.754	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZC3H3-S399G	homozygous	0.375	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZC3H3-A228S	homozygous	0.140	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.068 (benign)
0.5	ZC3H3-E151D	homozygous	0.406	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CYP3A7-R409T	homozygous	0.669	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	DPY19L2P2-H375Y	het unknown	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DPY19L2P2-N333I	het unknown	0.123	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DPY19L2P2-M120Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CDHR1-H53Q	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.864 (probably damaging)
0.5	NCRNA00255-P39Shift	het unknown	0.013	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	AK097289-V20L	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK097289-F90Shift	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	ROR2-T245A	het unknown	0.619	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BC032716-Y42Shift	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	TRMT12-D195E	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.015 (benign)
0.5	GPR98-L1093F	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-V1951I	homozygous	0.820	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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
0.5	GPR98-P1987L	het unknown	0.333	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	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
0.5	GPR98-Y2232C	het unknown	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-N2345S	het unknown	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-N2584S	homozygous	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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
0.5	GPR98-E3471K	homozygous	0.834	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-E3867K	het unknown	0.356	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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
0.5	GPR98-V5427M	homozygous	0.918	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-V5876I	homozygous	0.424	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
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	GCKR-L446P	het unknown	0.673	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
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	NR_027251-H75Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	TPO-A373S	homozygous	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	NLRP3-Q705K	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	USH2A-M3868V	het unknown	0.131	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-E3411A	homozygous	0.638	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-I3103V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-I2169T	homozygous	0.575	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-I1665T	het unknown	0.052	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	USH2A-R1486K	het unknown	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	GPATCH2-M474V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	PCNXL2-N2065S	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	PCNXL2-S1901N	het unknown	0.183	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EDARADD-M9I	het unknown	0.726	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	EDARADD-S103F	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	THADA-C1605Y	het unknown	0.137	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.387 (possibly damaging)
0.5	THADA-V1348I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	THADA-T1187A	het unknown	0.149	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.384 (possibly damaging)
0.5	ALMS1-R392C	het unknown	0.409	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-S524SP	het unknown	0.578	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-V671G	homozygous	0.857	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-G1414A	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-I1875V	het unknown	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-S2111R	het unknown	0.327	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-R2284P	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-R2826S	het unknown	0.404	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-N2856S	het unknown	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-R4029K	het unknown	0.527	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NBEAL1-I2330V	homozygous	0.817	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NBEAL1-T2492A	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.889 (probably damaging)
0.5	CPS1-T1406N	homozygous	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	ABCA12-N678S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SMARCAL1-S315R	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.27 (possibly damaging), 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	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	ACTR1B-A143V	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.989 (probably damaging)
0.5	LRP1B-G3615A	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.983 (probably damaging)
0.5	LRP1B-Q3140R	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NEB-I6534V	het unknown	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-A6277P	homozygous	0.691	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-R4389T	homozygous	0.724	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-W3348C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-K2273E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 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	LRP2-I4210L	homozygous	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.993 (probably damaging)
0.5	LRP2-K4094E	homozygous	0.744	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MFSD4-S156C	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	MFSD4-G314A	het unknown	0.343	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	FAAH-P129T	het unknown	0.237	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign)
0.5	CYP4A22-R126W	het unknown	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CYP4A22-G130S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	CYP4A22-N152Y	het unknown	0.790	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CYP4A22-C231R	het unknown	0.598	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CYP4A22-L428P	het unknown	0.297	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CPT2-V368I	het unknown	0.477	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CPT2-M647V	het unknown	0.093	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	TOE1-R341H	het unknown	0.013	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	LEPRE1-M549I	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests
0.5	RNF186-E139Q	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.902 (probably damaging)
0.5	ALPL-V522A	het unknown	0.078	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SEPN1-C108Y	het unknown	0.789	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SEPN1-N467K	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TMEM54-L110F	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.926 (probably damaging)
0.5	LRP8-R952Q	het unknown	0.130	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	LRP8-D46E	het unknown	0.621	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	INADL-V272M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	INADL-E362A	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.96 (probably damaging)
0.5	INADL-I400V	het unknown	0.392	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.006 (benign)
0.5	INADL-I870M	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HSPA6-G447V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	IER5-R92H	het unknown	0.298	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	IER5-V168I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	IER5-R194G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	IER5-Q202R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	IER5-P285S	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	HMCN1-T1056A	het unknown	0.268	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HMCN1-M2327I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5	HMCN1-I2418T	het unknown	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5	HMCN1-E2893G	het unknown	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5	HMCN1-G3566D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HMCN1-H4084Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HMCN1-Q4437R	homozygous	0.547	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5	HMCN1-A4720T	het unknown	0.084	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HMCN1-D5087V	het unknown	0.178	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5	CFH-V62I	het unknown	0.495	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CFH-H402Y	homozygous	0.818	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ZNF687-G259E	het unknown	0.118	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF687-G636S	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.949 (probably damaging)
0.5	ADAMTSL4-E44K	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.051 (benign)
0.5	ADAMTSL4-A193P	het unknown	0.625	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ADAMTSL4-S268F	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.961 (probably damaging)
0.5	ADAMTSL4-R494Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LEPR-K109R	het unknown	0.332	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5	LEPR-Q223R	het unknown	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5	LEPR-K656N	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.454 (possibly damaging), 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	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	FCGR1B-R175H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	FCGR1B-M171K	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.987 (probably damaging)
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-R723K	homozygous	0.770	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-R463H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-R419C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KCNE4-A25Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	KCNE4-G27Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	KCNE4-D145E	het unknown	0.638	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	FAT2-P4117L	homozygous	0.772	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-M3631I	homozygous	0.752	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.129 (benign)
0.5	FAT2-L3514S	homozygous	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	KIF4B-R580L	het unknown	0.685	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KIF4B-I834Shift	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	PDE6A-Q492H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, 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	PCSK1-S690T	het unknown	0.218	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5	PCSK1-Q665E	het unknown	0.238	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC22A4-I306T	het unknown	0.588	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	SLC22A4-L503F	het unknown	0.142	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	FSTL4-E353D	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	WDR55-C151R	homozygous	0.874	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	WDR55-Y235C	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	KCNMB1-E65K	het unknown	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
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	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	TRIM7-G363S	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TRIM7-V258A	het unknown	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TRIM7-Q95E	het unknown	0.029	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.923 (probably damaging)
0.5	HLA-H-D19Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-D29A	het unknown	0.071	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-P32Q	het unknown	0.060	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-E34M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-Q61R	het unknown	0.288	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-R141V	het unknown	0.021	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-R141V	het unknown	0.021	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-S182W	het unknown	0.392	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-C238S	homozygous	0.729	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TRIM10-T252M	het unknown	0.020	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.934 (probably damaging)
0.5	TRIM10-R216K	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TRIM10-Q210L	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TRIM10-R65H	het unknown	0.105	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.012 (benign)
0.5	BC040901-C89W	het unknown	0.706	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BC040901-P93S	het unknown	0.548	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BC040901-A106Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ADAMTS2-P1177S	het unknown	0.227	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	ADAMTS2-R827Q	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.876 (probably damaging)
0.5	ADAMTS2-R241H	het unknown	0.067	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FGFR4-V10I	het unknown	0.221	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FGFR4-P136L	homozygous	0.768	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FGFR4-G388R	het unknown	0.301	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.481 (possibly damaging)
0.5	NSD1-M2250I	het unknown	0.061	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
0.5	NSD1-M2261T	het unknown	0.064	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	NSD1-A2546T	het unknown	0.026	Unknown benign	Low clinical importance, uncertain	Benign, reported as a polymorphism.
0.5	DOK3-G22R	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.979 (probably damaging)
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	CCDC34-N298S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.929 (probably damaging)
0.5	CCDC34-P53S	het unknown	0.040	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.508 (possibly damaging)
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	RETNLB-L14Shift	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DRD3-G9S	homozygous	0.482	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	SLC41A3-L501Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SLC41A3-T62A	homozygous	0.982	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GBE1-I334V	homozygous	0.979	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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
0.5	MLH1-I219V	homozygous	0.124	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-L141P	homozygous	0.760	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-E162G	homozygous	0.764	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-R408H	het unknown	0.064	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-H451R	het unknown	0.090	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-D1269E	het unknown	0.049	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.583 (possibly damaging), 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-M2927T	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ESPNL-I568V	homozygous	0.310	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ESPNL-A574S	homozygous	0.895	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	ESPNL-R653W	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	ESPNL-V761A	homozygous	0.874	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ESPNL-Q829R	homozygous	0.365	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CMTM6-T91A	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	EIF2B5-I587V	homozygous	0.370	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
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	IDUA-R105Q	het unknown	0.147	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5	IDUA-A361T	het unknown	0.204	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	IDUA-V454I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ALPK1-G565D	homozygous	0.629	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ALPK1-H642R	homozygous	0.663	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ALPK1-M732I	homozygous	0.629	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ALPK1-M861T	homozygous	0.664	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ALPK1-R1084Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.996 (probably damaging)
0.5	DNAH5-L2862F	het unknown	0.212	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-I766L	het unknown	0.404	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.026 (benign), 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-G24E	het unknown	0.496	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-H12Q	homozygous	0.896	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	IL7R-I66T	het unknown	0.597	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	IL7R-V138I	het unknown	0.689	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	IL7R-I356V	het unknown	0.214	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	BDP1-D38E	homozygous	0.755	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BDP1-K722E	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	BDP1-V778M	homozygous	0.400	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.009 (benign)
0.5	BDP1-G1180S	homozygous	0.419	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BDP1-F1244I	homozygous	0.402	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BDP1-I1264M	homozygous	0.794	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BDP1-V1347M	homozygous	0.808	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BDP1-K1469E	homozygous	0.379	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.038 (benign)
0.5	BDP1-I2013L	homozygous	0.824	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	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	CRIPAK-T88Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CRIPAK-D91H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CRIPAK-H99Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DOK7-P415S	het unknown	0.083	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	BST1-R125H	het unknown	0.049	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	N4BP2-D611N	homozygous	0.817	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	N4BP2-G1737R	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	CDH23-S494N	homozygous	0.273	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-V1672I	homozygous	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-T1996S	homozygous	0.248	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ZFYVE19-S381N	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.889 (probably damaging)
0.5	BRCA1-S1634G	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRCA1-K1183R	het unknown	0.302	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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
0.5	BRCA1-P871L	homozygous	0.555	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GNGT2-Q17R	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
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	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	MAP2K3-P40T	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.968 (probably damaging)
0.5	MAP2K3-R55T	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MAP2K3-R94L	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.992 (probably damaging)
0.5	MAP2K3-R96W	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
0.5	MAP2K3-Q102*	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Nonsense mutation
0.5	MAP2K3-L215W	het unknown	0.429	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (probably damaging)
0.5	MAP2K3-T222M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	MAP2K3-R293H	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging)
0.5	MAP2K3-V339M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.815 (possibly damaging)
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	CTNS-P380A	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MFSD6L-L85I	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging)
0.5	MYH3-A1752T	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYH3-A1192T	homozygous	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYH3-A1003V	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.019 (benign), Testable gene in GeneTests
0.5	CCDC144B-G709Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	BZRAP1-H1728R	homozygous	0.302	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	BZRAP1-A1584P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	BZRAP1-D1301N	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	BZRAP1-A1140P	homozygous	0.266	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BZRAP1-H1118L	het unknown	0.060	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.616 (possibly damaging)
0.5	BZRAP1-W851R	het unknown	0.105	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BZRAP1-Q817R	het unknown	0.155	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BZRAP1-G79E	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.419 (possibly 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	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	CTDP1-S61A	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	STXBP2-I526V	homozygous	0.725	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	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	GAA-H199R	homozygous	0.574	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GAA-R223H	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GAA-V780I	homozygous	0.720	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	ITGB4-Q478H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ITGB4-L1779P	homozygous	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	UNC13D-K867E	homozygous	0.596	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RNF157-G208R	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.859 (probably damaging)
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	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	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	BBS4-I354T	homozygous	0.399	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TBC1D21-R83Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	NR2E3-G69S	het unknown		Unknown	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	SLC24A1-T37S	het unknown	0.322	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC24A1-S331Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SLC24A1-S332Shift	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	GATM-Q110H	homozygous	0.651	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	CYP19A1-R264C	het unknown	0.113	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	APH1B-T27I	het unknown	0.018	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	LOXL1-G153D	het unknown	0.269	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.135 (benign)
0.5	ALPK3-H65R	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ALPK3-T414S	het unknown	0.155	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.436 (possibly damaging)
0.5	ALPK3-G579E	het unknown	0.149	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.961 (probably damaging)
0.5	ALPK3-P1299L	homozygous	0.827	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ALPK3-R1412W	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	ALPK3-L1622P	het unknown	0.136	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.895 (probably damaging)
0.5	CX3CL1-A62V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	FHOD1-P533L	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (probably damaging)
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	LDHD-H208Y	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.899 (probably damaging)
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	SH2B1-T484A	het unknown	0.217	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	FANCI-A86V	homozygous	0.219	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCI-C742S	homozygous	0.234	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCI-I877L	het unknown	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WDR93-R19Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.969 (probably damaging)
0.5	WDR93-L66H	het unknown	0.356	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	WDR93-S254T	het unknown	0.337	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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-H2638R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 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	TSPAN16-S233Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	PGLYRP2-R476W	het unknown	0.003	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	PGLYRP2-M270K	het unknown	0.399	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.2 (possibly damaging)
0.5	PGLYRP2-R99Q	het unknown	0.364	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	PGLYRP2-T46A	het unknown	0.366	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PCNT-V148I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-P152Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-H156R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-T539I	homozygous	0.147	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5	PCNT-T879A	homozygous	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5	PCNT-R1163C	homozygous	0.125	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5	PCNT-I1639V	homozygous	0.383	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-Q2659H	homozygous	0.572	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5	PCNT-Q2792R	homozygous	0.732	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
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-W185R	homozygous	0.826	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRODH-P30S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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	LSS-P688L	het unknown	0.012	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	LSS-L642V	homozygous	0.789	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	COL6A1-R850H	homozygous	0.264	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TPTE-K386E	homozygous	0.997	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TPTE-R229*	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	TPTE-R222Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CBR3-V244M	homozygous	0.398	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.014 (benign)
0.5	UMODL1-N274H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.025 (benign)
0.5	UMODL1-R447Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.991 (probably damaging)
0.5	UMODL1-R447Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.991 (probably damaging)
0.5	UMODL1-M559T	het unknown	0.746	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	UMODL1-Q665*	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	UMODL1-R691G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	UMODL1-I767T	homozygous	0.734	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	UMODL1-D1336N	het unknown	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC19A1-H27R	homozygous	0.447	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign)
0.5	PIWIL3-R589C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PIWIL3-V418M	homozygous	0.922	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PIWIL3-P375S	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.856 (probably damaging)
0.5	MYO18B-G44E	het unknown	0.752	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MYO18B-W547C	homozygous	0.929	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MYO18B-W661R	homozygous	0.916	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MYO18B-W1037S	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	MYO18B-H1119Q	homozygous	0.632	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	MYO18B-Q2347R	het unknown	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	XIAP-Q423P	homozygous	0.277	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5	F9-T194A	homozygous	0.144	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-S180A	homozygous	0.229	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
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-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	ARSE-G424S	homozygous	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
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	het unknown	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	PPARA-L162V	het unknown	0.012	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.013 (benign)
0.5	MLC1-C171F	het unknown	0.095	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ASMTL-*622Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ASMTL-V458M	het unknown	0.214	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.098 (benign)
0.5	ZNF217-D889G	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.972 (probably damaging)
0.5	ZNF217-V739I	het unknown	0.170	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SALL4-L507R	homozygous	0.328	Dominant not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FCGBP-P4788S	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	FCGBP-H3668R	homozygous	0.575	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FCGBP-S1961P	homozygous	0.875	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	CYP2B6-K262R	het unknown	0.298	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CYP2B6-R487C	het unknown	0.074	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.005 (benign)
0.5	BCKDHA-P39H	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RYR1-Q3756E	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NPHS1-R408Q	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5	FAM125A-D249N	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	ZNF792-N425D	het unknown	0.037	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.968 (probably damaging)
0.5	ZNF792-R177Q	het unknown	0.715	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HAUS5-Q580R	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging)
0.5	PRODH2-P91R	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5	ZNF180-T300A	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	ZNF180-H289R	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.879 (probably damaging)
0.5	ZNF180-W89C	het unknown	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.973 (probably damaging)
0.5	SIX5-V693M	homozygous	0.261	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.086 (benign), 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	CPNE1-A402Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CPNE1-P347R	het unknown	0.084	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.384 (possibly damaging)
0.5	CPNE1-Q211R	homozygous	0.274	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LPIN3-R61W	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	CHD6-R2389C	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	ARFGEF2-P57S	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.881 (probably damaging)
0.5	PANK2-G126A	homozygous	0.917	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AK094748-D110A	het unknown	0.049	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	AK094748-S134G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	AK094748-S209Shift	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CARD8-V43Shift	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ZNF114-R244Q	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.917 (probably damaging)
0.5	EMP3-I125V	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.878 (probably damaging)
0.5	ZNF880-N106Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ZNF880-N140NN	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ZNF880-R198S	het unknown	0.354	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF880-N202H	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF880-C413F	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ZNF880-K471R	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CYBA-V174A	het unknown	0.417	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CYBA-Y72H	het unknown	0.649	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ZNF202-K259E	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.948 (probably damaging)
0.5	ZNF202-V154A	het unknown	0.669	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CLECL1-S52Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	B3GALTL-G369S	het unknown		Unknown	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	DHRS4L1-R122Shift	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	KIF21A-E1224D	het unknown	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CAPRIN2-M519V	het unknown	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	VWF-G2705R	het unknown	0.047	Unknown benign	Low clinical importance, uncertain	Probably benign, seems to be considered an uncommon polymorphism.
0.5	VWF-Q852R	homozygous	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	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	SYNE2-M1969T	homozygous	0.637	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5	SYNE2-A2284V	homozygous	0.637	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5	SYNE2-S2359N	homozygous	0.676	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5	SYNE2-A2395T	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SYNE2-S2802G	homozygous	0.864	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5	SYNE2-I2942V	homozygous	0.622	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SYNE2-D3253H	homozygous	0.684	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5	SYNE2-L5186M	het unknown	0.708	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
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-C1871Y	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ZFYVE26-C1457Y	het unknown	0.136	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5	ZFYVE26-S1040T	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5	ZFYVE26-S615F	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests
0.5	WDHD1-P638A	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	C14orf104-D768G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	C14orf104-E62D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 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	B4GALNT3-R265Q	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.096 (benign)
0.5	B4GALNT3-K411R	het unknown	0.264	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.236 (possibly damaging)
0.5	B4GALNT3-R992H	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
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-N551K	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRK2-I723V	het unknown	0.057	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRK2-R1398H	het unknown	0.123	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	KRT6B-I365V	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (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	HTR2A-H452Y	het unknown	0.098	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.489 (possibly damaging)
0.5	FREM2-S745P	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	FREM2-R1840W	het unknown	0.162	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5	FREM2-R2066C	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5	FREM2-T2153S	het unknown	0.058	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	FREM2-T2326I	het unknown	0.768	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MTMR10-R575Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	SACS-V3369A	het unknown	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	SACS-N232K	het unknown	0.083	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	SLC24A6-C559Y	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.942 (probably damaging)
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	UTP14C-G85V	het unknown	0.559	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	UTP14C-R319H	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	TEP1-I2486M	homozygous	0.373	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-V2214I	homozygous	0.326	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-S1195P	homozygous	0.703	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-R1055C	homozygous	0.631	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-N307K	het unknown	0.369	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-S116P	het unknown	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RPGRIP1-K192E	homozygous	0.446	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RPGRIP1-A547S	homozygous	0.164	Complex/Other benign	Low clinical importance, uncertain	Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.
0.5	RPGRIP1-E1033Q	homozygous	0.256	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KRT6A-DV459AL	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KRT6A-R443W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NR_028064-G139Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	KRT1-SSYGSGG557Del	het unknown	0.426	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT1-A454S	het unknown	0.011	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COL4A2-E1123G	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.919 (probably damaging)
0.5	KRT5-S528G	homozygous	0.152	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRC16B-L1022M	het unknown	0.346	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LRRC16B-G1161V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.975 (probably damaging)
0.5	ATM-N1983S	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-D248N	het unknown	0.080	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	GALC-A21P	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MMP27-D447N	homozygous	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.012 (benign)
0.5	MMP27-W304L	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.976 (probably damaging)
0.5	MMP27-E266V	homozygous	0.404	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MMP27-T24M	het unknown	0.760	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MLH3-P844L	homozygous	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	SPATA7-V74M	homozygous	0.412	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AHNAK2-P5397A	het unknown	0.435	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.149 (benign)
0.5	AHNAK2-S5185A	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.417 (possibly damaging)
0.5	AHNAK2-Y5184D	het unknown	0.626	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AHNAK2-P4821S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	AHNAK2-P4755S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.912 (probably damaging)
0.5	AHNAK2-T4664A	het unknown	0.558	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	AHNAK2-L4326P	het unknown	0.548	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	AHNAK2-L4321V	het unknown	0.540	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	AHNAK2-V4278A	het unknown	0.466	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	AHNAK2-M3869V	het unknown	0.558	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.04 (benign)
0.5	AHNAK2-D3793N	het unknown	0.555	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.04 (benign)
0.5	AHNAK2-G3654E	het unknown	0.555	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.204 (possibly damaging)
0.5	AHNAK2-V3363A	het unknown	0.542	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.009 (benign)
0.5	AHNAK2-E3339Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	AHNAK2-P3336L	het unknown	0.333	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.998 (probably damaging)
0.5	AHNAK2-DL3176EV	het unknown	0.273	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AHNAK2-R2862S	het unknown	0.563	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.021 (benign)
0.5	AHNAK2-E2503A	het unknown	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging)
0.5	AHNAK2-P2387S	het unknown	0.533	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.011 (benign)
0.5	AHNAK2-L2333P	het unknown	0.548	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	AHNAK2-L2146V	homozygous	0.696	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.007 (benign)
0.5	AHNAK2-M2107V	het unknown	0.276	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AHNAK2-H2060Q	het unknown	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.676 (possibly damaging)
0.5	AHNAK2-E1856D	het unknown	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AHNAK2-V1610A	het unknown	0.596	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AHNAK2-E1464D	het unknown	0.013	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.04 (benign)
0.5	AHNAK2-E1403K	het unknown	0.021	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.04 (benign)
0.5	AHNAK2-S1341L	het unknown	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.146 (benign)
0.5	AHNAK2-M1298I	het unknown	0.830	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.016 (benign)
0.5	AHNAK2-E1148D	het unknown	0.974	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	AHNAK2-R1144Q	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.78 (possibly damaging)
0.5	AHNAK2-V1133I	het unknown	0.421	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	AHNAK2-A1095D	het unknown	0.085	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AHNAK2-K997R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	AHNAK2-M852V	het unknown	0.159	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.024 (benign)
0.5	AHNAK2-G746A	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging)
0.5	AHNAK2-P744L	het unknown	0.169	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.069 (benign)
0.5	AHNAK2-T525A	het unknown	0.226	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.017 (benign)
0.5	OR10V1-Q123R	het unknown	0.963	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OR10V1-V117A	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OR10V1-A67E	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.989 (probably damaging)
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	MYO7A-L16S	homozygous	0.550	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ASPG-V229Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ASPG-H231Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ASPG-S232Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ASPG-S344R	het unknown	0.772	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.721 (possibly damaging)
0.5	ZC3H12C-D852A	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.983 (probably damaging)
0.5	ALG9-V289I	homozygous	0.332	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	ATG16L1-T300A	het unknown	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
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	PALM2-AKAP2-I547Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	PALM2-AKAP2-L792S	het unknown	0.457	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PALM2-AKAP2-A843AEA	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	GPR83-P374Q	het unknown	0.077	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	GPR83-W305Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	MMAB-M239K	het unknown	0.469	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MMAB-R19Q	het unknown	0.283	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-S159G	het unknown	0.134	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), 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	SMPD1-G508R	het unknown	0.151	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	FLG-Y3105D	het unknown	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25	FLG-E2976D	het unknown	0.406	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	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	ABCB11-M677V	het unknown	0.106	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	XIRP2-E158K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	XIRP2-S534Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CTLA4-T17A	het unknown	0.463	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
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	C9orf131-E78Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	C9orf131-W222L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MIIP-K167E	homozygous	0.670	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MIIP-Q277Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	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	KANK1-S464A	het unknown	0.216	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	KANK1-Y845Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	KANK1-S846R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	KANK1-I1055T	het unknown	0.195	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FBN3-E2610D	het unknown	0.632	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FBN3-R1806Q	het unknown	0.164	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FBN3-V1326I	het unknown	0.290	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FBN3-R1083W	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FBN3-V938I	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 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	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	MAN2B1-L278V	het unknown	0.236	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CLCNKA-R83G	homozygous	0.653	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CLCNKA-H357Q	het unknown	0.071	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CLCNKA-A447T	homozygous	0.688	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CLCNKA-Q601*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests
0.25	CYP4F2-V433M	het unknown	0.216	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.309 (possibly damaging)
0.25	CYP4F2-W12G	het unknown	0.058	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
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	ABCC8-A1369S	het unknown	0.755	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SNX19-L878R	het unknown	0.808	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SNX19-N753S	het unknown	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SNX19-L618F	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SNX19-V361L	het unknown	0.671	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NOTCH3-A2223V	het unknown	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATIC-T116S	het unknown	0.184	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.25	ATXN2-L107V	het unknown	0.311	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	GLI2-A1156S	het unknown	0.536	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LAMB3-M852L	het unknown	0.117	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	MYO3A-I348V	homozygous	0.678	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MYO3A-V369I	homozygous	0.642	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MYO3A-R1313S	het unknown	0.620	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MYO3A-S1547C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	THBD-A473V	het unknown	0.117	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CSF2RB-G219Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CSF2RB-E249Q	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	KCNE1-S38G	het unknown	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	TRIOBP-S217N	het unknown	0.413	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25	TRIOBP-Q398Del	het unknown	0.308	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TRIOBP-N863K	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25	TRIOBP-F1187L	het unknown	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25	TRIOBP-H1300R	homozygous	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25	TRIOBP-E1372D	het unknown	0.237	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25	TRIOBP-W1377R	homozygous	0.964	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25	SYCE1-H321R	het unknown	0.196	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.918 (probably damaging)
0.25	SYCE1-A250Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SYCE1-K183R	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SYCE1-E132D	het unknown	0.129	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.877 (probably damaging)
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	PCDH15-R934Q	het unknown	0.283	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NCF2-H389Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	NCF2-K181R	het unknown	0.471	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	C1orf99-T7S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C1orf99-P38Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ESPN-T429I	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	ESPN-R791W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	AY819761-T58P	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	AY819761-M111V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	AY819761-*129Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	FMO3-E158K	het unknown	0.374	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FMO3-E308G	het unknown	0.104	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25	KCNQ2-N780T	het unknown	0.509	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CAPN2-D22E	homozygous	0.993	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CAPN2-E80Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	DNAH14-T43S	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DNAH14-F405L	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DNAH14-L828V	homozygous	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-K1010R	homozygous	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-R1011Q	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-N1099Y	het unknown	0.677	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-M1110I	homozygous	0.663	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-Y1392D	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.007 (benign)
0.25	DNAH14-T1850M	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-K1925Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	DNAH14-N2435S	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DNAH14-R2911H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DNAH14-E3232Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DNAH14-D3393E	het unknown	0.521	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-K3474E	het unknown	0.514	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-V3627A	het unknown	0.514	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-R3670K	het unknown	0.517	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-L4096P	homozygous	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-F4244C	homozygous	0.513	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-K4375N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TGFB1-P10L	het unknown	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TYMP-S471L	het unknown	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	CASQ2-T66A	het unknown	0.427	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ENDOG-S12L	homozygous	0.469	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ENDOG-K297Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ARSA-T391S	het unknown	0.423	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SULT1C4-D5E	het unknown	0.371	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	KRT81-E402Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	KRT81-L248R	homozygous	0.935	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	KRT81-G52R	homozygous	0.191	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.735 (possibly damaging), Testable gene in GeneTests
0.25	CD3EAP-Q504K	het unknown	0.284	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign)
0.25	HEATR1-E2017G	het unknown	0.490	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.181 (benign)
0.25	HEATR1-N1967D	het unknown	0.495	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.05 (benign)
0.25	HEATR1-V1854A	het unknown	0.464	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HEATR1-N1694S	homozygous	0.697	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HEATR1-S1559N	het unknown	0.218	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	HEATR1-A1430V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	HEATR1-M607V	het unknown	0.346	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.988 (probably damaging)
0.25	HEATR1-G570R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	HEATR1-H348R	homozygous	0.554	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PODN-R32H	het unknown	0.356	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.822 (possibly damaging)
0.25	PODN-V520A	homozygous	0.505	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PODN-D591Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	PODN-S592C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FPR1-E346A	homozygous	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FPR1-N192K	het unknown	0.516	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FPR1-V101L	het unknown	0.336	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FPR1-I11T	het unknown	0.831	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TH-V108M	het unknown	0.416	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, 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	COL2A1-G1405S	het unknown	0.187	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	TRIM5-H419Y	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TRIM5-A168Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	TRIM5-H43Y	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MYOM1-T1522Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	MYOM1-I960T	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MYOM1-G341A	homozygous	0.767	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MYOM1-S181P	het unknown	0.449	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	C5orf20-S42P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NM_030941-L457Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	NM_030941-S458L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CD19-L174V	het unknown	0.876	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HIRIP3-E129G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	HIRIP3-P126Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ATXN1-P753S	het unknown	0.107	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	COL1A2-P549A	het unknown	0.907	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CLCN7-V418M	het unknown	0.103	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	SIX6-H141N	het unknown	0.314	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25	BBS2-I123V	het unknown	0.251	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	BBS2-S70N	homozygous	0.992	Unknown benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LRRC50-K393R	het unknown	0.321	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	LRRC50-P502L	het unknown	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25	LRRC50-L633S	het unknown	0.261	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LRRC50-L659P	het unknown	0.352	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LRRC50-S675T	het unknown	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (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	C16orf85-P25R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SRA1-V110RL	het unknown	0.360	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	NR_001296-P3L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_001296-A8T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_001296-G11A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_001296-G49V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_001296-I53N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_001296-S54R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_001296-Q56K	het unknown	0.576	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.025 (benign), Nonsense mutation
0.25	NR_001296-Q56K	het unknown	0.576	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.025 (benign), Nonsense mutation
0.25	NR_001296-I103T	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	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
0.25	DHODH-K7Q	het unknown	0.560	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.004 (benign)
0.25	TCOF1-P1139R	het unknown	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TCOF1-A1353V	het unknown	0.194	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MICA-L145V	het unknown	0.191	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-G198S	homozygous	0.337	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-T204R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MICA-I236T	het unknown	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-V244L	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MICA-R274Q	het unknown	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TNXB-G2518E	het unknown	0.658	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TNXB-H1161R	het unknown	0.568	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TTBK2-L8P	het unknown	0.560	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	C6orf103-E442Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	C6orf103-H1632R	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SPG11-F463S	het unknown	0.470	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CDAN1-R891C	het unknown	0.246	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	CDAN1-Q596R	het unknown	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CDAN1-Q107L	het unknown	0.175	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	OPRM1-N40D	het unknown	0.204	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	OPRM1-Q402H	homozygous	0.882	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SDK1-S58P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SDK1-S1223*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	SDK1-H1641R	het unknown	0.818	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.25	PLG-D472N	het unknown	0.151	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	VWDE-F1485C	homozygous	0.734	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-K1273Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	VWDE-Q1256K	homozygous	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-C1050Y	het unknown	0.138	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-T1032M	het unknown	0.773	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-G1009R	het unknown	0.096	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-C890F	het unknown	0.178	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-E869K	het unknown	0.176	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-Y804H	het unknown	0.191	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-S607F	het unknown	0.748	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-R385*	het unknown	0.202	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Nonsense mutation
0.25	VWDE-G340D	het unknown	0.845	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-F292I	het unknown	0.615	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-R39H	het unknown	0.235	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SOD2-V16A	het unknown	0.362	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	DSE-T25I	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.012 (benign)
0.25	DSE-I282V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DSE-K814Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ELN-G422S	het unknown	0.225	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ELN-G581R	het unknown	0.048	Unknown benign	Low clinical importance, uncertain	Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).
0.25	ABCB1-S893A	het unknown	0.625	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLC28A1-D521N	het unknown	0.226	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FLVCR2-V16A	het unknown	0.514	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	FLVCR2-P279S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	GARS-P42A	het unknown	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL9A1-Q621R	het unknown	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TLN2-S460*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	TLN2-SG461RR	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TLN2-F2266L	het unknown	0.191	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	XRCC3-T241M	het unknown	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.188 (benign)
0.25	SYCE1L-T16A	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SYCE1L-E164Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SYCE1L-R178Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SYCE1L-P210T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	UGT2B15-K523T	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	UGT2B15-Y85D	het unknown	0.500	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C17orf57-T33I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C17orf57-R211*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	IRS2-G1057D	het unknown	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.024 (benign)
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	EVC-Y258H	het unknown	0.721	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.25	EVC-T449K	homozygous	0.871	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	EVC-R576Q	het unknown	0.274	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25	SLC2A9-P350L	het unknown	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
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	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	UCHL1-S18Y	het unknown	0.111	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.029 (benign)
0.25	GHDC-R469C	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.746 (possibly damaging)
0.25	GHDC-L6Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	TLR6-S249P	het unknown	0.855	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	ATP7B-V1140A	het unknown	0.495	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATP7B-R952K	het unknown	0.481	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATP7B-K832R	het unknown	0.455	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	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
0.25	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
0.25	EPPK1-L2398V	het unknown	0.291	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	EPPK1-R2215S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	EPPK1-D2213M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	EPPK1-V1864I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	EPPK1-T1507A	homozygous	0.580	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	EPPK1-G1250Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	DSC3-R102K	het unknown	0.479	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DSC3-S78T	het unknown	0.478	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	XPC-Q939K	het unknown	0.683	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TMEM43-K168N	het unknown	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25	TMEM43-M179T	het unknown	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NPC1-R1266Q	het unknown	0.144	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	NPC1-I858V	het unknown	0.480	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.25	NPC1-M642I	het unknown	0.863	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	C17orf55-V50L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C17orf55-A49Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	TMEM67-I604V	het unknown	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MYH15-T1125A	het unknown	0.180	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.007 (benign)
0.25	MYH15-H504Y	homozygous	0.578	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.997 (probably damaging)
0.25	MYH15-R454Q	het unknown	0.107	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
0.25	UBE2O-G1207S	het unknown	0.313	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	UBE2O-E845Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	CWH43-P2T	het unknown	0.269	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CWH43-L533Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CWH43-H689N	het unknown	0.460	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	AGA-T149S	homozygous	0.925	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	AGA-L105I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	GHR-I544L	het unknown	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25	GUCY2D-L782H	het unknown	0.165	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	TNFRSF13B-P251L	het unknown	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0.25	MPDU1-A229T	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CHRNB1-E32G	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	P2RX5-S374Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	P2RX5-N112Shift	homozygous	0.516	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.25	NLRP1-M1184V	het unknown	0.433	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NLRP1-V1059M	het unknown	0.165	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.006 (benign)
0.25	NLRP1-L155H	het unknown	0.120	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.064 (benign)
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	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-R1826H	het unknown	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), 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	VCAN-D2937Y	het unknown	0.352	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25	C14orf93-E484Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	C14orf93-P11S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ANK2-V2369A	het unknown	0.136	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	ANK2-R3906W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ERBB2-I655V	het unknown	0.121	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.18 (benign)
0.25	ERBB2-P1170A	het unknown	0.275	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.983 (probably damaging)
0.25	BANK1-A383T	het unknown	0.233	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging)
0.25	BANK1-C650R	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	EPN2-V401A	homozygous	0.962	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	EPN2-T470Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	RAI1-G90A	het unknown	0.281	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RAI1-P165T	het unknown	0.542	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	GK-G551D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	GK-E485K	het unknown	0.114	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0	PEX26-L153V	het unknown	0.010	Recessive not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests with associated GeneReview
0	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	SERPINA1-E288V	het unknown	0.047	Recessive pathogenic	Low clinical importance, well-established	This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.
0	BTD-D444H	het unknown	0.007	Recessive pathogenic	Low clinical importance, well-established	This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency.
0	HFE-H63D	het unknown	0.086	Recessive pathogenic	Low clinical importance, uncertain	There have been some hypotheses that this variant contributes to causing hereditary hemachromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.
0	MEFV-R202Q	het unknown	0.111	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0	SIAE-M89V	het unknown	0.034	Recessive pathogenic	Moderate clinical importance, uncertain	This variant, which has a 3.4% allele frequency in 1000 genomes data, is reported to be associated with autoimmune disease when homozygous. The statistical significance of the findings is unclear. Assuming it is pathogenic, we estimate that the relative risk of autoimmune disease in homozygous individuals is around 4x (8% risk vs. an average of 2% risk).
0	ACAD8-S171C	het unknown	0.023	Recessive pathogenic	Low clinical importance, uncertain	This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,762,621,482 bases (96.7% of callable positions, 89.7% of total positions)

Coding region coverage: 32,888,611 bases (98.8% 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, chrY

huFAF983 - GET-Evidence variant report

Variant report for huFAF983

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