Variant report for hu025CEA

Data source: CGI sample GS01669-DNA_D02 from PGP sample 27316983
This report: evidence.pgp-hms.org/genomes?9d458d468b9d4b6a4b3fe69644de6856f9dbf1b2
Person ID: hu025CEA
public profile: my.pgp-hms.org/profile/hu025CEA
Download: source data, dbSNP and nsSNP report (122 MB)
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Show likely pathogenic and rare (<2.5%) pathogenic variants Show all

Row number	Variant	Clinical Importance	Evidence	Impact	Allele freq	Summary	Sufficient
1	APOE-C130R	High	Well-established	Well-established pathogenic Complex/Other, Heterozygous	0.135392	This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes).	1
2	NOD2-R702W	Low	Likely	Likely pathogenic Complex/Other, Heterozygous	0.0334821	NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn's disease in European populations, but not in Korean or Japanese groups.	1
3	MBL2-R52C	Low	Likely	Likely pathogenic Recessive, Carrier (Heterozygous)	0.048615	This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).	1
4	APOA5-S19W	Low	Likely	Likely pathogenic Unknown, Heterozygous	0.0646151	This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.	1
5	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
6	ELAC2-S217L	Low	Uncertain	Uncertain pathogenic Complex/Other, Heterozygous	0.273471	Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).	1
7	TGIF1-P83Shift	Low	Uncertain	Uncertain pathogenic Complex/Other, Heterozygous	0.138889	Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.	1
8	SP110-L425S	Low	Uncertain	Uncertain pathogenic Unknown, Homozygous	0.863357	This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.	1
9	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
10	BRCA2-N372H	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.23656	This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.	1
11	CD40LG-G219R	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.0114142	Study of a single family with X-linked immunodeficiency implicated this variant as causal when combined with XIAP-G466X. The authors' hypothesis is that either variant alone has much less effect, if any. Because 2% of males carry this variant, it is very unlikely that the variant alone has any severe effect.	1
12	WFS1-R611H	Low	Uncertain	Uncertain not reviewed Recessive, Carrier (Heterozygous)	0.400446	This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).	1
13	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
14	rs1544410	Low	Uncertain	Uncertain pharmacogenetic Unknown, Homozygous	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
15	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
16	FUT2-W154X	Moderate	Well-established	Well-established protective Recessive, Carrier (Heterozygous)	0.490519	This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.	1
17	PRNP-M129V	Low	Well-established	Well-established protective Complex/Other, Heterozygous	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
18	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
19	TOR1A-D216H	Low	Likely	Likely protective Unknown, Heterozygous	0.102993	This SNP has been shown to be benign and play a protective role against Dystonia.	1
20	ABCG5-R50C	Low	Likely	Likely protective Unknown, Heterozygous	0.0684142	This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.	1
21	KCNJ11-K23E	Low	Likely	Likely protective Unknown, Homozygous	0.738148	This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.	1
22	MTR-D919G	Low	Uncertain	Uncertain protective Complex/Other, Heterozygous	0.217234	This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption.	1
23	LPL-S474X	Low	Uncertain	Uncertain protective Unknown, Heterozygous	0.0844953	This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.	1
24	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
25	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
26	OCA2-R305W	Low	Likely	Likely benign Unknown, Heterozygous	0.0815207	This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).	1
27	PKD1-A4059V	Low	Likely	Likely benign Unknown, Heterozygous	0.0570413	Probably benign.	1
28	FLT4-N149D	Low	Likely	Likely benign Unknown, Heterozygous	0.0725056	Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect.	1
29	CEP290-D664G	Low	Likely	Likely benign Unknown, Heterozygous	0.00878754	Reported as a non-pathogenic polymorphism, appears to be more common in East Asians.	1
30	PMS2-P470S	Low	Likely	Likely benign Unknown, Heterozygous	0.374884	Benign, common variant.	1
31	EFHC1-R182H	Low	Likely	Likely benign Unknown, Heterozygous	0.0439673	Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.	1
32	COL6A3-D2831H	Low	Likely	Likely benign Unknown, Heterozygous	0.0678565	Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.	1
33	GUCY2D-A52S	Low	Uncertain	Uncertain benign Recessive, Homozygous	0.21016	One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.	1
34	KEL-T193M	Low	Uncertain	Uncertain benign Dominant, Heterozygous	0.0320692	This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1.	1
35	MLH1-I219V	Low	Uncertain	Uncertain benign Dominant, Heterozygous	0.239822	Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.	1
36	LOXL1-R141L	Low	Uncertain	Uncertain benign Complex/Other, Heterozygous	0.255899	Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.	1
37	RPGRIP1-A547S	Low	Uncertain	Uncertain benign Complex/Other, Heterozygous	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
38	GAA-D91N	Low	Uncertain	Uncertain benign Recessive, Carrier (Heterozygous)	0.0237033	This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2.	1
39	GALT-N314D	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0716676	This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).	1
40	PCSK9-G670E	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.888269	This variant is likely benign.	1
41	PKP2-L366P	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.221231	This variant is a benign polymorphism.	1
42	BRCA1-Q356R	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0462911	One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.	1
43	APOB-Y1422C	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.999628	This position is almost certainly an error in the HG18 reference sequence.	1
44	RP1-N985Y	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.348671	Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.	1
45	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
46	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
47	SPTA1-A970D	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0373134	This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.	1
48	TAS2R38-A49P	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.431121	This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.	1

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

Exome coverage: 32861153 / 33212919 = 98.94%

Row number	Gene	Chromosome	Coverage	Missing	Length	Missing regions
1	AGRN	1	0.94819159335288	318	6138	955553-955621, 955628-955639, 955645-955683, 976213-976257, 981885-981886, 981978, 981982, 983599-983745, 986833-986834
2	GABRD	1	0.96026490066225	54	1359	1950863-1950883, 1950886-1950900, 1950907-1950912, 1950915-1950917, 1950919-1950927
3	NPHP4	1	0.99813127773885	8	4281	6007248-6007255
4	ESPN	1	0.84639376218324	394	2565	6488301-6488336, 6488377-6488392, 6488426-6488432, 6500482-6500488, 6500709-6500744, 6500765-6500791, 6500829-6500868, 6501029-6501065, 6501097-6501103, 6505779, 6505795, 6505817, 6505844-6505861, 6505891, 6505900, 6505910, 6505917, 6508701-6508705, 6508727-6508766, 6508828-6508857, 6508882-6508928, 6511907-6511933, 6512127-6512133
5	PLEKHG5	1	0.97804954531201	70	3189	6534093-6534101, 6534147, 6534214-6534220, 6534523-6534526, 6534556-6534562, 6534606-6534647
6	KIF1B	1	0.99642386598908	19	5313	10357009-10357027
7	PEX14	1	0.99382716049383	7	1134	10684444-10684450
8	TARDBP	1	0.96144578313253	48	1245	11082322-11082362, 11082599-11082605
9	CLCNKA	1	0.99660852713178	7	2064	16354391-16354397
10	CLCNKB	1	0.99321705426357	14	2064	16373044-16373050, 16383399-16383405
11	ATP13A2	1	0.9994355066328	2	3543	17313604, 17313607
12	HSPG2	1	0.99400425015179	79	13176	22165450-22165465, 22263648-22263710
13	WNT4	1	0.92708333333333	77	1056	22469339-22469415
14	SEPN1	1	0.89028776978417	183	1668	26126722-26126904
15	HPCA	1	0.99828178694158	1	582	33359443
16	ZMPSTE24	1	0.99929971988796	1	1428	40734099
17	KCNQ4	1	0.99904214559387	2	2088	41284296, 41284309
18	MPL	1	0.99895178197065	2	1908	43815001-43815002
19	POMGNT1	1	0.99848714069592	3	1983	46662499-46662501
20	ORC1	1	0.99883990719258	3	2586	52859451-52859453
21	DHCR24	1	0.99484203739523	8	1551	55352597-55352602, 55352612-55352613
22	PCSK9	1	0.99230399230399	16	2079	55505549-55505555, 55505559-55505567
23	LEPR	1	0.99828473413379	6	3498	66083690-66083695
24	RPL5	1	0.98769574944072	11	894	93307401-93307402, 93307405-93307410, 93307414-93307416
25	DPYD	1	0.98927875243665	33	3078	97847949-97847951, 97847972-97847996, 97848005-97848006, 97848011, 98060666, 98348832
26	AGL	1	0.9997825614264	1	4599	100377975
27	DBT	1	0.99240855762595	11	1449	100700992-100700999, 100706401-100706403
28	COL11A1	1	0.95583654022357	241	5457	103364222-103364329, 103364497-103364509, 103364527-103364550, 103380332-103380340, 103388937, 103427767, 103427775, 103427781, 103427785-103427787, 103435775, 103435788-103435815, 103435822-103435828, 103462659-103462667, 103470180, 103471628, 103471843-103471871, 103484376-103484378, 103484404
29	CASQ2	1	0.99916666666667	1	1200	116244025
30	NOTCH2	1	0.98071736785329	143	7416	120539665-120539714, 120539742, 120539778-120539784, 120539913-120539919, 120539933-120539955, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611999-120612009
31	FLG	1	0.95158378467093	590	12186	152276279-152276307, 152276383-152276389, 152276441-152276470, 152276487-152276493, 152276580-152276631, 152276656-152276674, 152276759-152276775, 152276889, 152276907, 152277011-152277058, 152277082-152277088, 152277714-152277720, 152277881-152277887, 152278044-152278052, 152278552-152278558, 152278685-152278692, 152278811-152278817, 152278856, 152279016-152279022, 152279524-152279530, 152279743, 152280347, 152280468-152280474, 152280556-152280576, 152280594-152280617, 152280643-152280661, 152280682-152280702, 152280864, 152280900, 152281225-152281231, 152281287-152281307, 152281520-152281537, 152281621-152281649, 152281690, 152281694, 152281711, 152281718, 152281748-152281749, 152281752, 152281758, 152281771, 152281872-152281878, 152281948, 152283427-152283433, 152284122-152284155, 152284205-152284248, 152284374-152284380, 152284854, 152284879, 152284885, 152284893, 152285134-152285140, 152285185-152285191, 152285227-152285233, 152285806-152285812
32	PKLR	1	0.99884057971014	2	1725	155269991, 155269995
33	LMNA	1	0.99823633156966	1	567	156105084
34	LMNA	1	0.99949874686717	1	1995	156105084
35	NTRK1	1	0.99414470932664	14	2391	156830794-156830807
36	TBX19	1	0.98144023756496	25	1347	168274313-168274337
37	F5	1	0.98606741573034	93	6675	169497296-169497297, 169510269-169510296, 169510351-169510383, 169510502, 169510515, 169510524, 169510634-169510653, 169511618-169511624
38	DARS2	1	0.99587203302374	8	1938	173814371-173814374, 173814380-173814383
39	HMCN1	1	0.99934942039271	11	16908	186031696-186031703, 186094888, 186135347-186135348
40	PDC	1	0.95951417004049	30	741	186418541-186418556, 186418566-186418570, 186418574-186418577, 186418581, 186418586-186418588, 186418591
41	CFH	1	0.99675324675325	12	3696	196648816, 196648839, 196648845-196648847, 196658729-196658733, 196706714, 196706733
42	CFHR1	1	0.99597180261833	4	993	196794663-196794666
43	CFHR5	1	0.98771929824561	21	1710	196953128-196953145, 196953168, 196953252, 196967398
44	ASPM	1	0.99808318957255	20	10434	197069698-197069699, 197069702-197069711, 197093268-197093271, 197113087, 197113109, 197113148, 197113153
45	CD46	1	0.99416666666667	7	1200	207930362-207930368
46	USH2A	1	0.99711704785701	45	15609	215916519-215916520, 215916524-215916527, 215916533-215916538, 215916552-215916559, 215916563-215916565, 215916569-215916570, 215916589, 215916606, 215916609-215916611, 215956131, 216363566-216363569, 216496887-216496888, 216496904, 216496908, 216496912-216496917
47	GJC2	1	0.93106060606061	91	1320	228345758, 228345790, 228346053, 228346063, 228346066, 228346073, 228346076-228346143, 228346151-228346155, 228346162, 228346342-228346349, 228346402, 228346407, 228346430
48	LYST	1	0.99246010871471	86	11406	235875357-235875359, 235875373, 235875426-235875432, 235875446-235875497, 235897879, 235907281-235907287, 235907294, 235937260, 235944288-235944290, 235944302, 235950561-235950565, 235950569, 235950601, 235950627, 235956907
49	RYR2	1	0.99543746645196	68	14904	237655162, 237655173-237655174, 237655194-237655195, 237821244-237821271, 237821273, 237821276-237821288, 237821304-237821316, 237824190-237824196, 237972209
50	FH	1	0.9849967384214	23	1533	241661162-241661175, 241661194-241661197, 241669372-241669373, 241669376-241669378
51	NET1	10	0.99329983249581	12	1791	5497051-5497062
52	GATA3	10	0.99925093632959	1	1335	8100743
53	OPTN	10	0.99942329873126	1	1734	13151245
54	DCLRE1C	10	0.999518999519	1	2079	14981868
55	CUBN	10	0.99981604120677	2	10872	17142049-17142050
56	PTF1A	10	0.98986828774063	10	987	23481918-23481924, 23481971-23481973
57	MYO3A	10	0.99505256648114	24	4851	26359074-26359089, 26359126-26359133
58	PDSS1	10	0.98397435897436	20	1248	26994215, 26994225-26994230, 26994237-26994241, 26994255-26994257, 26994314-26994318
59	RET	10	0.97997010463378	67	3345	43572707-43572773
60	CHAT	10	0.93368936359591	149	2247	50822274-50822422
61	PCDH15	10	0.99864153506538	8	5889	55719557, 55721516-55721517, 56138662-56138666
62	PSAP	10	0.98984126984127	16	1575	73579575-73579590
63	BMPR1A	10	0.99937460913071	1	1599	88683146
64	GLUD1	10	0.99582587954681	7	1677	88836362-88836368
65	PTEN	10	0.99917491749175	1	1212	89720725
66	LIPA	10	0.99916666666667	1	1200	91007398
67	PAX2	10	0.98768283294842	16	1299	102566307-102566322
68	COL17A1	10	0.99933244325768	3	4494	105816811-105816813
69	HTRA1	10	0.95356895356895	67	1443	124221188-124221189, 124221191-124221244, 124221250-124221254, 124221312-124221317
70	OAT	10	0.99848484848485	2	1320	126097385-126097386
71	SLC25A22	11	0.99794238683128	2	972	792614-792615
72	PNPLA2	11	0.99405940594059	9	1515	819719-819723, 819865-819868
73	CTSD	11	0.9862792574657	17	1239	1785051-1785056, 1785063-1785073
74	IGF2	11	0.9985935302391	1	711	2154249
75	CDKN1C	11	0.90956887486856	86	951	2905948-2905967, 2905970, 2905973, 2905976-2905981, 2905984, 2906053-2906054, 2906067-2906069, 2906084, 2906089-2906126, 2906144, 2906149, 2906152-2906154, 2906206-2906209, 2906219-2906221, 2906418
76	SBF2	11	0.99963963963964	2	5550	10013993, 10014005
77	ABCC8	11	0.99515381373788	23	4746	17452427-17452449
78	USH1C	11	0.99	27	2700	17531177, 17531282, 17531288, 17531301-17531304, 17531307-17531312, 17531314-17531327
79	ANO5	11	0.96243617797228	103	2742	22249052-22249061, 22271849, 22271859-22271862, 22276928, 22276982-22277068
80	PDHX	11	0.99402390438247	9	1506	34982008-34982013, 34982023, 34982038, 35013863
81	SERPING1	11	0.99933466400532	1	1503	57365759
82	BSCL2	11	0.99928005759539	1	1389	62472930
83	SLC22A12	11	0.99578820697954	7	1662	64367266-64367268, 64367272-64367274, 64367280
84	AIP	11	0.97985901309164	20	993	67257559-67257578
85	TCIRG1	11	0.99799438427597	5	2493	67810169, 67811346, 67811352-67811354
86	LRP5	11	0.98886138613861	54	4848	68080209-68080255, 68080264-68080265, 68080267-68080271
87	IGHMBP2	11	0.99195171026157	24	2982	68704532-68704555
88	DHCR7	11	0.99299719887955	10	1428	71146573, 71146577, 71146580-71146584, 71146593-71146595
89	MYO7A	11	0.9998495788207	1	6648	76922295
90	DYNC2H1	11	0.97837002703747	280	12945	102984286, 102984301, 102984311-102984328, 102984364, 102984420, 102987379, 102991523-102991531, 102991764-102991765, 102999696, 102999734, 103022899, 103024184, 103029449-103029494, 103029512-103029519, 103029527, 103029530-103029534, 103029537, 103036715, 103043821-103043825, 103043832-103043844, 103043883-103043889, 103043899-103043908, 103043969-103043971, 103049829, 103052522-103052527, 103052536-103052548, 103059226-103059245, 103059255, 103059262, 103059267-103059277, 103059283, 103059294-103059335, 103059339, 103062269, 103062341-103062343, 103062855-103062877, 103070105-103070107, 103082533, 103082537, 103082540-103082541, 103082545-103082547, 103093704, 103093707-103093709, 103093714, 103093734, 103093737, 103093748
91	ATM	11	0.98582488278268	130	9171	108098361, 108098367, 108098374, 108098524, 108126950-108127067, 108196135, 108196143-108196146, 108196160-108196161, 108196195
92	DLAT	11	0.98148148148148	36	1944	111899568-111899584, 111899588-111899589, 111910009-111910011, 111910015-111910028
93	PTS	11	0.9703196347032	13	438	112104226-112104238
94	ROBO3	11	0.99903869262197	4	4161	124745539-124745542
95	CACNA1C	12	0.9961896052431	25	6561	2622069-2622086, 2794934-2794940
96	VWF	12	0.9818763326226	153	8442	6103101-6103111, 6122711-6122718, 6125338-6125344, 6127532-6127538, 6127637-6127661, 6127865-6127871, 6128064-6128070, 6128544-6128550, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033
97	TPI1	12	0.99066666666667	7	750	6979461-6979467
98	ATN1	12	0.98516652672824	53	3573	7045597-7045623, 7045902, 7045905-7045929
99	GYS2	12	0.98106060606061	40	2112	21712025-21712064
100	ABCC9	12	0.99376344086022	29	4650	22025615, 22063766-22063771, 22063774-22063783, 22063793-22063795, 22068648-22068656
101	KRAS	12	0.99824561403509	1	570	25378611
102	DNM1L	12	0.99457259158752	12	2211	32890799-32890808, 32890832-32890833
103	KIF21A	12	0.99699157641396	15	4986	39709042, 39745580, 39745584-39745596
104	LRRK2	12	0.99050632911392	72	7584	40645046, 40688677-40688698, 40702987, 40761452, 40761458, 40761461-40761469, 40761489, 40761493-40761517, 40761524-40761529, 40761547, 40761554-40761557
105	COL2A1	12	0.99977598566308	1	4464	48398080
106	MLL2	12	0.99951847839172	8	16614	49426779, 49427258, 49427276, 49427287, 49434252-49434255
107	KRT81	12	0.99077733860343	14	1518	52682999-52683005, 52684950-52684956
108	KRT86	12	0.98631074606434	20	1461	52695997, 52697952, 52699030-52699047
109	KRT83	12	0.99932523616734	1	1482	52710279
110	KRT6B	12	0.98761061946903	21	1695	52843632-52843637, 52845432-52845438, 52845574, 52845798-52845804
111	KRT6C	12	0.9646017699115	60	1695	52865295-52865300, 52867091-52867129, 52867230-52867236, 52867456-52867463
112	KRT6A	12	0.9787610619469	36	1695	52882219-52882225, 52882264-52882270, 52884735, 52886542-52886548, 52886681-52886687, 52886908-52886914
113	KRT5	12	0.99717992103779	5	1773	52908743-52908746, 52908895
114	KRT2	12	0.99791666666667	4	1920	53045602-53045605
115	GNS	12	0.99939722724533	1	1659	65141665
116	LEMD3	12	0.99707602339181	8	2736	65612339, 65612389-65612395
117	CEP290	12	0.97432795698925	191	7440	88443081, 88454611-88454615, 88462316-88462356, 88462369, 88465672-88465682, 88472952-88472957, 88472986-88473006, 88478514, 88479856, 88490727-88490755, 88496750, 88505488-88505490, 88505505, 88505565, 88505568, 88505604-88505610, 88513893-88513899, 88513985, 88513993-88513996, 88514052, 88522723-88522745, 88522765, 88522768-88522775, 88522805, 88523594-88523607
118	TMPO	12	0.99952038369305	1	2085	98927722
119	PAH	12	0.99705665930831	4	1359	103288593-103288596
120	ATXN2	12	0.97919837645865	82	3942	112036743, 112036748, 112036754-112036803, 112036806-112036816, 112036821, 112036892-112036901, 112036910, 112036926-112036931, 112036934
121	ATP6V0A2	12	0.99922209257098	2	2571	124242474-124242475
122	PUS1	12	0.99922118380062	1	1284	132426010
123	BRCA2	13	0.99912255045335	9	10257	32906504-32906511, 32920970
124	SUCLA2	13	0.9992816091954	1	1392	48547467
125	RB1	13	0.99138858988159	24	2787	48947545-48947549, 48947576-48947581, 48947593-48947598, 48947605-48947606, 48947609-48947613
126	RNASEH2B	13	0.99680511182109	3	939	51522196-51522198
127	EDNRB	13	0.99774266365688	3	1329	78474709-78474711
128	SLITRK1	13	0.99952175992348	1	2091	84453796
129	ZIC2	13	0.9349593495935	104	1599	100634394-100634396, 100634399, 100635004-100635040, 100637714, 100637724, 100637728-100637729, 100637745-100637749, 100637810, 100637816-100637868
130	PCCA	13	0.99908550525834	2	2187	100925511, 100925524
131	ERCC5	13	0.99858457183298	6	4239	103468798-103468800, 103468811, 103468827-103468828
132	F10	13	0.99045671438309	14	1467	113777177-113777190
133	GRK1	13	0.98817966903073	20	1692	114321808-114321827
134	TEP1	14	0.99936580416032	5	7884	20859859-20859863
135	SLC7A7	14	0.99934895833333	1	1536	23282124
136	PABPN1	14	0.84581976112921	142	921	23790686, 23790694-23790702, 23790719, 23790724-23790739, 23790748, 23790751-23790756, 23790794, 23790797, 23790846-23790847, 23790854-23790870, 23790874-23790879, 23790903-23790951, 23790957-23790966, 23790984-23790992, 23791005, 23793479-23793490
137	MYH6	14	0.99879725085911	7	5820	23855185-23855191
138	FOXG1	14	0.8047619047619	287	1470	29236674-29236960
139	FANCM	14	0.99023914104441	60	6147	45623911, 45623933-45623939, 45623942, 45623945, 45623956-45623961, 45623974-45623977, 45623981-45623982, 45623985-45624005, 45624013-45624018, 45650638, 45653062, 45654493, 45654500, 45667851-45667854, 45667882-45667884
140	SYNE2	14	0.99966222736923	7	20724	64447711, 64447762-64447765, 64447775-64447776
141	ZFYVE26	14	0.9990813648294	7	7620	68244313-68244319
142	MLH3	14	0.99977074736359	1	4362	75506714
143	GALC	14	0.99951409135083	1	2058	88448550
144	SPATA7	14	0.98055555555556	35	1800	88859806-88859811, 88859821, 88883131-88883158
145	TTC8	14	0.99935400516796	1	1548	89305821
146	ATXN3	14	0.98434622467772	17	1086	92537347, 92537353-92537354, 92537364-92537367, 92537381, 92559631-92559639
147	VRK1	14	0.94626364399664	64	1191	97299820-97299827, 97304099-97304154
148	AMN	14	0.99779735682819	3	1362	103396614-103396615, 103396635
149	INF2	14	0.92453333333333	283	3750	105173762-105173778, 105173859-105174124
150	NIPA1	15	0.82020202020202	178	990	23086234-23086411
151	UBE3A	15	0.99162861491629	22	2628	25601971, 25616251-25616257, 25616620-25616626, 25616679-25616685
152	SLC12A6	15	0.99160150593687	29	3453	34549843-34549859, 34549936-34549947
153	SPRED1	15	0.99850187265918	2	1335	38614554, 38614562
154	CHST14	15	0.98320070733864	19	1131	40763508, 40763521-40763530, 40763574-40763575, 40763781-40763786
155	CDAN1	15	0.99185667752443	30	3684	43018339-43018358, 43019937-43019940, 43026524-43026529
156	TTBK2	15	0.99705488621151	11	3735	43067846-43067849, 43067857-43067862, 43164863
157	STRC	15	0.98348348348348	88	5328	43896947-43896959, 43897544-43897560, 43906457-43906463, 43910863-43910913
158	SPG11	15	0.99959083469722	3	7332	44888995, 44912473, 44912492
159	FBN1	15	0.99930362116992	6	8616	48737592, 48737596, 48737646, 48737649, 48766788, 48766791
160	SCG3	15	0.99786780383795	3	1407	51974714-51974716
161	HCN4	15	0.99584717607973	15	3612	73614899, 73615047-73615059, 73660593
162	ETFA	15	0.99900199600798	1	1002	76566821
163	POLG	15	0.99516129032258	18	3720	89876826-89876830, 89876837-89876849
164	MESP2	15	0.98994974874372	12	1194	90320135-90320146
165	BLM	15	0.9776680771039	95	4254	91310188-91310193, 91310215-91310217, 91326097, 91326106-91326107, 91337413-91337427, 91337492-91337547, 91337573-91337584
166	HBZ	16	0.98135198135198	8	429	203966, 204271-204277
167	CLCN7	16	0.99958643507031	1	2418	1524911
168	GFER	16	0.99514563106796	3	618	2034224, 2034331, 2034348
169	PKD1	16	0.9634448574969	472	12912	2141157-2141175, 2147190, 2147193-2147196, 2147902-2147908, 2147942-2147953, 2149883-2149889, 2149962-2149968, 2150404-2150410, 2150456-2150484, 2150515-2150521, 2153684-2153685, 2153688, 2154595-2154643, 2155906-2155912, 2155981-2156024, 2156399-2156411, 2156442-2156448, 2156494-2156526, 2159144-2159150, 2159311-2159319, 2159403-2159409, 2160717-2160725, 2160769-2160775, 2163180-2163186, 2164171-2164178, 2164720-2164735, 2164808, 2164919-2164925, 2165387-2165394, 2166834-2166845, 2166976-2166983, 2167041-2167054, 2167871-2167877, 2167959-2168008, 2168056-2168062, 2185569, 2185592, 2185595, 2185662-2185690
170	CREBBP	16	0.99713467048711	21	7329	3778409, 3778428-3778430, 3778434-3778448, 3778453, 3779472
171	ALG1	16	0.96559139784946	48	1395	5128840-5128879, 5134875-5134882
172	ABCC6	16	0.99844858156028	7	4512	16315540-16315546
173	OTOA	16	0.99795321637427	7	3420	21742176-21742182
174	CLN3	16	0.99392558845862	8	1317	28497700-28497707
175	PHKG2	16	0.97215397215397	34	1221	30760149-30760155, 30760165-30760168, 30760186-30760192, 30760198-30760213
176	FUS	16	0.9898798228969	16	1581	31195690-31195698, 31195709-31195714, 31196408
177	SLC5A2	16	0.99702823179792	6	2019	31500057, 31500060, 31500065-31500068
178	PHKB	16	0.99969530773918	1	3282	47727400
179	CYLD	16	0.99720475192173	8	2862	50811754-50811761
180	SALL1	16	0.9959748427673	16	3975	51175661-51175676
181	RPGRIP1L	16	0.99772036474164	9	3948	53672249-53672253, 53672259, 53672310-53672312
182	MMP2	16	0.99798285426122	4	1983	55513453-55513456
183	HSD11B2	16	0.95484400656814	55	1218	67465197, 67465204, 67465206-67465212, 67465216, 67465220-67465232, 67465235-67465240, 67465262-67465272, 67465278-67465292
184	LCAT	16	0.99697656840514	4	1323	67973976-67973979
185	CDH1	16	0.99962249905625	1	2649	68849480
186	MLYCD	16	0.96491228070175	52	1482	83932808-83932810, 83932813-83932818, 83932834, 83932842-83932847, 83932850-83932851, 83932856, 83932858-83932873, 83932879-83932894, 83932994
187	FOXF1	16	0.99561403508772	5	1140	86544211-86544215
188	JPH3	16	0.99866488651535	3	2247	87723726-87723728
189	SPG7	16	0.99832495812395	4	2388	89579413-89579416
190	ASPA	17	0.98726114649682	12	942	3402273-3402284
191	TP53	17	0.98984771573604	12	1182	7579429-7579432, 7579437-7579444
192	HES7	17	0.99557522123894	3	678	8025669, 8025677-8025678
193	MYH3	17	0.99965653443242	2	5823	10534935-10534936
194	ELAC2	17	0.99637243047158	9	2481	12896189-12896197
195	COX10	17	0.98948948948949	14	1332	14095306-14095312, 14095345-14095351
196	RAI1	17	0.99405698304492	34	5721	17697094-17697108, 17697114-17697123, 17698203-17698207, 17699993-17699995, 17700952
197	MYO15A	17	0.99395827433211	64	10593	18024010-18024016, 18024030-18024050, 18024062-18024064, 18024238-18024240, 18024266, 18024332-18024335, 18024339-18024340, 18024416, 18046080-18046086, 18049333-18049339, 18057102-18057103, 18057106-18057110, 18057117
198	UNC119	17	0.97510373443983	18	723	26879415, 26879418-26879424, 26879435-26879444
199	NF1	17	0.99518779342723	41	8520	29422328-29422341, 29422362, 29422364, 29422370-29422371, 29422374-29422378, 29557371-29557377, 29580009, 29665761, 29679275-29679279, 29679288-29679291
200	TCAP	17	0.99801587301587	1	504	37822165
201	KRT10	17	0.98005698005698	35	1755	38975097-38975099, 38975106-38975121, 38975129-38975130, 38975133, 38975136-38975137, 38975148-38975149, 38975287, 38975300-38975307
202	KRT14	17	0.99436222692037	8	1419	39741304-39741309, 39742832, 39742856
203	KRT16	17	0.9648382559775	50	1422	39766265-39766281, 39768490-39768496, 39768721-39768746
204	KRT17	17	0.96843725943033	41	1299	39780378-39780384, 39780414-39780440, 39780516-39780522
205	STAT5B	17	0.99365482233503	15	2364	40369477, 40371359-40371371, 40384110
206	NAGLU	17	0.99775985663082	5	2232	40688653-40688657
207	WNK4	17	0.9989281886388	4	3732	40947095-40947098
208	GRN	17	0.9983164983165	3	1782	42428787-42428789
209	COL1A1	17	0.99977246871445	1	4395	48265939
210	TRIM37	17	0.99309153713299	20	2895	57105892, 57105915-57105927, 57105931, 57158528-57158529, 57158546-57158548
211	AP1S2	17	0.98076923076923	12	624	58180050-58180059, 58180062, 58180079
212	BRIP1	17	0.99866666666667	5	3750	59821928, 59821939-59821941, 59934442
213	ACE	17	0.99897985207855	4	3921	61554483-61554484, 61554488, 61554523
214	POLG2	17	0.99519890260631	7	1458	62476498-62476504
215	AXIN2	17	0.989336492891	27	2532	63533729-63533755
216	SEPT9	17	0.92277115275412	136	1761	75494605-75494740
217	SGSH	17	0.99337309476474	10	1509	78194051-78194052, 78194081-78194087, 78194091
218	NDUFV2	18	0.99866666666667	1	750	9124916
219	LAMA3	18	0.99690061987602	31	10002	21483927-21483957
220	DSC3	18	0.9933110367893	18	2691	28574249-28574251, 28581584-28581594, 28586927-28586930
221	TTR	18	0.97972972972973	9	444	29178579-29178587
222	LOXHD1	18	0.99171187462327	55	6636	44104523-44104526, 44126863-44126866, 44126874-44126916, 44126959, 44126993, 44127001-44127002
223	MYO5B	18	0.99332972778078	37	5547	47352944-47352980
224	SMAD4	18	0.98854731766124	19	1659	48593407, 48593422, 48593470, 48593489, 48603039-48603046, 48603072-48603078
225	ATP8B1	18	0.99574014909478	16	3756	55398954-55398969
226	LMAN1	18	0.99543378995434	7	1533	57000405, 57000408-57000409, 57000412-57000414, 57000429
227	TNFRSF11A	18	0.9773095623987	42	1851	59992598-59992639
228	CTDP1	18	0.999306999307	2	2886	77440035-77440036
229	ELANE	19	0.87562189054726	100	804	853262-853361
230	KISS1R	19	0.96491228070175	42	1197	920325, 920333, 920337-920351, 920368-920371, 920374-920390, 920402, 920408, 920411-920412
231	MAP2K2	19	0.92352452202826	92	1203	4123781-4123872
232	PNPLA6	19	0.99598393574297	16	3984	7619506-7619521
233	TYK2	19	0.99971941638608	1	3564	10469855
234	PRKCSH	19	0.99621928166352	6	1587	11558341-11558346
235	CACNA1A	19	0.99441563621859	42	7521	13318565, 13318673-13318701, 13318706-13318712, 13318777-13318778, 13318791, 13318803, 13319693
236	NOTCH3	19	0.9886592018375	79	6966	15281296-15281330, 15311620-15311626, 15311631-15311648, 15311657-15311658, 15311683-15311699
237	JAK3	19	0.99555555555556	15	3375	17940923-17940932, 17940935-17940937, 17940954, 17940982
238	COMP	19	0.9934036939314	15	2274	18896483-18896490, 18900762, 18900811-18900815, 18900818
239	CEBPA	19	0.95543175487465	48	1077	33792751, 33792757-33792760, 33792915, 33792919, 33793015, 33793024, 33793030-33793031, 33793166, 33793171-33793172, 33793201-33793204, 33793209-33793238
240	SCN1B	19	0.95043370508055	40	807	35521725-35521764
241	MAG	19	0.99946836788942	1	1881	35791141
242	NPHS1	19	0.99892646269458	4	3726	36336585-36336588
243	RYR1	19	0.99708936958391	44	15117	38931401, 38931406-38931410, 38931437-38931454, 38942479, 38951173-38951176, 38998420-38998426, 39055783, 39055876-39055879, 39055897-39055899
244	PRX	19	0.97674418604651	102	4386	40901314-40901328, 40909630-40909652, 40909700-40909737, 40909744-40909769
245	BCAM	19	0.99629040805511	7	1887	45315616-45315622
246	ERCC2	19	0.99824791940429	4	2283	45867090-45867092, 45867095
247	SIX5	19	0.99954954954955	1	2220	46272077
248	DMPK	19	0.94126984126984	111	1890	46285493-46285517, 46285525-46285610
249	CRX	19	0.99555555555556	4	900	48342631-48342633, 48342637
250	DBP	19	0.98466257668712	15	978	49138846-49138855, 49138862-49138863, 49138867-49138869
251	MED25	19	0.9982174688057	4	2244	50333781, 50339526, 50339529-50339530
252	MYH14	19	0.99754540991654	15	6111	50770214-50770218, 50770221-50770230
253	KCNC3	19	0.85883905013193	321	2274	50823503-50823592, 50826450, 50826458-50826459, 50831496-50831499, 50831523-50831530, 50831543, 50831551, 50831693-50831694, 50831864, 50831873-50831876, 50831885, 50831901-50831903, 50831907, 50831912-50831914, 50831922, 50832142-50832339
254	PRKCG	19	0.98949379178606	22	2094	54392928, 54393210-54393212, 54393225, 54393230, 54393239-54393247, 54393263, 54393266, 54401315-54401319
255	NLRP7	19	0.99775208734746	7	3114	55451167-55451173
256	KLF11	2	0.99025341130604	15	1539	10183871-10183885
257	LPIN1	2	0.99962588851478	1	2673	11955330
258	MYCN	2	0.99928315412186	1	1395	16082897
259	APOB	2	0.99810108092317	26	13692	21266752-21266763, 21266789-21266802
260	OTOF	2	0.98248248248248	105	5994	26699759-26699826, 26699836-26699855, 26699858, 26699878-26699882, 26699894, 26699909, 26700120-26700123, 26700137-26700141
261	C2orf71	2	0.99974140160331	1	3867	29294050
262	ALK	2	0.9967098498869	16	4863	29451780-29451795
263	SPAST	2	0.91031874662345	166	1851	32289002-32289035, 32289080-32289093, 32289102, 32289116, 32289134-32289193, 32289200-32289209, 32289215-32289257, 32340781, 32340830, 32340867
264	SOS1	2	0.99250374812594	30	4002	39224093-39224104, 39224439, 39241043-39241049, 39283892-39283901
265	ABCG5	2	0.99948875255624	1	1956	44058976
266	LRPPRC	2	0.99976105137395	1	4185	44161390
267	MSH2	2	0.99465240641711	15	2805	47639642, 47709921-47709934
268	MSH6	2	0.99951016409503	2	4083	48010475, 48010480
269	LHCGR	2	0.99333333333333	14	2100	48982732, 48982754-48982760, 48982764, 48982773-48982777
270	EFEMP1	2	0.99460188933873	8	1482	56102081-56102085, 56102137, 56102184-56102185
271	MCEE	2	0.99811676082863	1	531	71337190
272	ALMS1	2	0.9969609724888	38	12504	73612997-73613011, 73613020-73613026, 73613031-73613040, 73613046-73613048, 73613053, 73613154, 73828342
273	SLC4A5	2	0.99970708845929	1	3414	74479404
274	DCTN1	2	0.99843627834246	6	3837	74590485, 74592662-74592666
275	MOGS	2	0.99880668257757	3	2514	74692361-74692363
276	HTRA2	2	0.99854756717502	2	1377	74757446-74757447
277	REEP1	2	0.98844884488449	7	606	86564627-86564633
278	EIF2AK3	2	0.99761265293942	8	3351	88887534-88887536, 88887539-88887540, 88926730-88926732
279	RANBP2	2	0.97240310077519	267	9675	109352023-109352039, 109357110-109357116, 109363178-109363217, 109365376-109365379, 109367751-109367775, 109367868-109367874, 109368074-109368110, 109369546-109369595, 109371399, 109371421, 109371656-109371662, 109378576, 109378580, 109378584, 109383110, 109383268-109383274, 109383579-109383586, 109383761-109383798, 109384004-109384010, 109384782-109384788
280	MERTK	2	0.996	12	3000	112656327-112656336, 112656339, 112656343
281	GLI2	2	0.99852972064692	7	4761	121555025, 121746161-121746165, 121746197
282	PROC	2	0.998556998557	2	1386	128180698, 128180701
283	CFC1	2	0.98511904761905	10	672	131279664-131279671, 131279674, 131285387
284	RAB3GAP1	2	0.99728445349627	8	2946	135848568, 135848626-135848627, 135888122-135888126
285	MCM6	2	0.99959448499594	1	2466	136616953
286	NEB	2	0.99429258035446	114	19974	152417801, 152432719-152432724, 152432730-152432731, 152432738-152432745, 152432748, 152432752, 152432755-152432761, 152432776-152432836, 152482059, 152482092-152482113, 152515616-152515619
287	SCN2A	2	0.99019607843137	59	6018	166171986-166171989, 166171995-166171996, 166171999-166172005, 166172008, 166172013-166172015, 166234107-166234148
288	SCN1A	2	0.9959979989995	24	5997	166859087-166859096, 166905428-166905441
289	SCN9A	2	0.99865183687226	8	5934	167060872-167060877, 167083097, 167083167
290	HOXD13	2	0.99806201550388	2	1032	176957798, 176957801
291	AGPS	2	0.9453717754173	108	1977	178285031, 178285056, 178285066, 178326621, 178333155, 178333249, 178346787-178346826, 178346856-178346914, 178362437, 178362467-178362468
292	PRKRA	2	0.99893842887473	1	942	179312264
293	TTN	2	0.99932168222807	68	100248	179399019, 179419434-179419438, 179445109-179445120, 179523794-179523802, 179538365-179538392, 179543145, 179543155, 179543166, 179543173, 179543217-179543220, 179583894, 179598579, 179665141-179665143
294	COL3A1	2	0.98023176550784	87	4401	189850452-189850455, 189854122-189854154, 189856931-189856949, 189871663-189871684, 189871694-189871698, 189872621-189872624
295	PMS1	2	0.97284744551626	76	2799	190718704-190718741, 190718749-190718763, 190718787-190718794, 190718805-190718808, 190719034, 190728699-190728708
296	STAT1	2	0.98934753661784	24	2253	191859894-191859913, 191874664-191874667
297	ALS2	2	0.99979895456373	1	4974	202626387
298	ABCA12	2	0.99807395993837	15	7788	215797410-215797420, 215809783-215809786
299	OBSL1	2	0.98523985239852	84	5691	220416269, 220417312-220417316, 220435665-220435708, 220435730-220435735, 220435739-220435766
300	COL4A4	2	0.99782780410742	11	5064	227942709-227942719
301	UGT1A1	2	0.99750312109863	4	1602	234668951-234668954
302	COL6A3	2	0.99989511222991	1	9534	238244890
303	C20orf54	20	0.99645390070922	5	1410	744370-744374
304	AVP	20	0.8969696969697	51	495	3063334-3063340, 3063643-3063651, 3063774-3063781, 3063787-3063813
305	THBD	20	0.99768518518519	4	1728	23028893-23028896
306	SNTA1	20	0.99209486166008	12	1518	32031335, 32031376-32031381, 32031384-32031388
307	GDF5	20	0.99203187250996	12	1506	34022402-34022413
308	CTSA	20	0.98663994655979	20	1497	44520220-44520226, 44520233-44520245
309	CHRNA4	20	0.99575371549894	8	1884	61992476-61992481, 61992487, 61992490
310	KCNQ2	20	0.99923634975181	2	2619	62103634, 62103637
311	SOX18	20	0.68744588744589	361	1155	62680203-62680205, 62680512-62680869
312	IFNGR2	21	0.94575936883629	55	1014	34775850-34775852, 34775860-34775888, 34775893-34775913, 34775921-34775922
313	AIRE	21	0.97008547008547	49	1638	45712996-45713044
314	ITGB2	21	0.9995670995671	1	2310	46308669
315	COL6A1	21	0.98931000971817	33	3087	47401784-47401812, 47407552-47407555
316	COL6A2	21	0.99967320261438	1	3060	47531459
317	PCNT	21	0.99960043951653	4	10011	47855871-47855874
318	PRODH	22	0.99556295063783	8	1803	18905964, 18923541, 18923547-18923552
319	GP1BB	22	0.99033816425121	6	621	19711859-19711861, 19711868-19711870
320	TBX1	22	0.87231182795699	190	1488	19748428-19748599, 19748669-19748670, 19748673, 19753449-19753452, 19753511-19753514, 19753971, 19753993, 19753999-19754001, 19754007-19754008
321	CHEK2	22	0.9557069846678	78	1761	29083906-29083917, 29083946-29083965, 29085165-29085171, 29091115-29091145, 29091837-29091844
322	MYH9	22	0.99711031786503	17	5883	36688075-36688080, 36688090-36688100
323	TRIOBP	22	0.95153564384334	344	7098	38119742-38119774, 38119798-38119835, 38119856-38119905, 38119976-38119999, 38120037-38120052, 38120150-38120156, 38120193-38120199, 38120297-38120306, 38120394-38120440, 38120447-38120486, 38120521-38120545, 38120611-38120629, 38120683-38120710
324	EP300	22	0.99944789510007	4	7245	41546113, 41546118-41546120
325	TNFRSF13C	22	0.98018018018018	11	555	42322221-42322230, 42322246
326	CYB5R3	22	0.98233995584989	16	906	43045306-43045321
327	ALG12	22	0.99931833674165	1	1467	50297999
328	MLC1	22	0.99647266313933	4	1134	50502593-50502595, 50502608
329	TYMP	22	0.98688750862664	19	1449	50964687-50964693, 50964705-50964711, 50964716, 50964720-50964723
330	SHANK3	22	0.81083142639207	992	5244	51113070-51113132, 51135955-51136143, 51158726-51159212, 51159447-51159451, 51159454-51159455, 51159461-51159472, 51159476, 51169169, 51169200, 51169349-51169355, 51169438-51169460, 51169480-51169580, 51169598-51169612, 51169629-51169665, 51169675-51169722
331	FANCD2	3	0.97667572463768	103	4416	10085168-10085205, 10085533-10085539, 10088296-10088332, 10091150-10091156, 10107165-10107171, 10114941-10114947
332	COLQ	3	0.99853801169591	2	1368	15499812-15499813
333	CRTAP	3	0.99004975124378	12	1206	33155595, 33155600-33155605, 33155630-33155634
334	ABHD5	3	0.99904761904762	1	1050	43756465
335	TREX1	3	0.9972972972973	3	1110	48508075-48508077
336	HESX1	3	0.9336917562724	37	558	57232225-57232261
337	PDHB	3	0.99722222222222	3	1080	58416496-58416498
338	ATXN7	3	0.89217758985201	306	2838	63898275-63898403, 63898412-63898416, 63898418-63898426, 63898436-63898589, 63898597, 63968670-63968677
339	ROBO2	3	0.9997582789461	1	4137	77530350
340	GBE1	3	0.95116168800379	103	2109	81698049-81698051, 81698054, 81754625, 81754630, 81754636, 81754643-81754647, 81754656-81754715, 81754718-81754727, 81754730-81754735, 81754740, 81754748-81754761
341	PROS1	3	0.9670113244707	67	2031	93595884, 93595938-93595958, 93595973-93595987, 93595992-93596017, 93596027-93596030
342	ARL13B	3	0.997668997669	3	1287	93762035, 93762050-93762051
343	ARL6	3	0.9554367201426	25	561	97503799-97503823
344	ACAD9	3	0.9994640943194	1	1866	128628992
345	ATP2C1	3	0.99964912280702	1	2850	130711800
346	NPHP3	3	0.9671925870273	131	3993	132418284, 132418291-132418292, 132431978, 132438549-132438674, 132441000
347	FOXL2	3	0.97612732095491	27	1131	138664555-138664564, 138664572-138664575, 138664866, 138664869-138664878, 138664884-138664885
348	MRPS22	3	0.99538319482918	5	1083	139075781-139075785
349	PLOD2	3	0.97496706192358	57	2277	145799609-145799615, 145804582, 145804622-145804653, 145804672, 145804675-145804682, 145804691-145804695, 145828129, 145828159, 145828167
350	IFT80	3	0.99785223367698	5	2328	160018722, 160093649-160093650, 160093654-160093655
351	OPA1	3	0.97801837270341	67	3048	193354984, 193354997-193355031, 193355040-193355070
352	IDUA	4	0.99694189602446	6	1962	980896-980897, 996614, 996636, 996709, 997170
353	HTT	4	0.99247003924064	71	9429	3076605-3076608, 3076617-3076665, 3076681, 3076689, 3213784-3213799
354	DOK7	4	0.9953795379538	7	1515	3465257, 3465262, 3465273-3465277
355	EVC	4	0.99899295065458	3	2979	5713180-5713182
356	CC2D2A	4	0.99835492494345	8	4863	15534918-15534925
357	CNGA1	4	0.91052631578947	204	2280	47939787, 47954601-47954702, 47972920-47972950, 47972960-47972965, 47972980, 47972982-47973024, 47973052-47973071
358	SGCB	4	0.99895506792059	1	957	52896017
359	SLC4A4	4	0.99908675799087	3	3285	72306449, 72306469-72306470
360	COQ2	4	0.9991341991342	1	1155	84193285
361	PKD2	4	0.99174406604747	24	2907	88928933, 88928940-88928951, 88928954, 88928970-88928973, 88929004-88929009
362	SNCA	4	0.87943262411348	51	423	90749294-90749324, 90749327-90749335, 90756699-90756702, 90756705-90756707, 90756715-90756718
363	MANBA	4	0.99734848484848	7	2640	103592503-103592509
364	CISD2	4	0.92647058823529	30	408	103808512-103808522, 103808569-103808587
365	CFI	4	0.99600456621005	7	1752	110673638, 110673644-110673649
366	GAR1	4	0.99235474006116	5	654	110740157-110740161
367	ANK2	4	0.99991578238167	1	11874	114161667
368	BBS7	4	0.94599627560521	116	2148	122765109-122765115, 122766737-122766768, 122775859-122775902, 122775913, 122775921-122775930, 122775936-122775954, 122775960, 122782675, 122782746
369	MFSD8	4	0.99036608863198	15	1557	128854211-128854221, 128859983-128859986
370	SMAD1	4	0.99141630901288	12	1398	146478943-146478954
371	GLRB	4	0.96787148594378	48	1494	158041708-158041755
372	ETFDH	4	0.99946062567422	1	1854	159618851
373	GK	4	0.9777376654633	37	1662	166199386-166199392, 166199426-166199432, 166199589-166199610, 166200037
374	SDHA	5	0.99097744360902	18	1995	223682-223683, 236673-236681, 256469-256475
375	TERT	5	0.99411591644601	20	3399	1295053-1295056, 1295064, 1295080-1295092, 1295101-1295102
376	SDHA	5	0.92354740061162	25	327	1593261-1593285
377	DNAH5	5	0.99437837837838	78	13875	13727752, 13792256, 13810214, 13862717, 13862723, 13862734, 13916457-13916527, 13916540
378	FAM134B	5	0.9946452476573	8	1494	16478962-16478968, 16616838
379	AMACR	5	0.98955613577023	12	1149	33998796-33998807
380	NIPBL	5	0.98134284016637	157	8415	37022407, 37022428, 37036481-37036497, 37036506-37036589, 37048623-37048625, 37048629-37048640, 37048660-37048671, 37048676-37048677, 37048679-37048690, 37048698, 37048719-37048721, 37048724, 37048729-37048736
381	LIFR	5	0.99514268366727	16	3294	38482724-38482728, 38490324, 38490360-38490366, 38490379, 38490386, 38506018
382	OXCT1	5	0.9488163787588	80	1563	41862761-41862811, 41862821-41862849
383	ITGA2	5	0.99576988155668	15	3546	52347241-52347255
384	ERCC8	5	0.99916036943745	1	1191	60200693
385	SMN2	5	0.9774011299435	20	885	69359242-69359247, 69362949, 69363218-69363229, 69366541
386	SMN2	5	0.9774011299435	20	885	70234666-70234671, 70238373, 70238642-70238653, 70241966
387	AP3B1	5	0.99330289193303	22	3285	77311240-77311246, 77311284-77311291, 77311353-77311358, 77471509
388	RASA1	5	0.94815521628499	163	3144	86645130-86645134, 86669980-86670137
389	MEF2C	5	0.9915611814346	12	1422	88024358-88024362, 88024423-88024429
390	GPR98	5	0.9961418529676	73	18921	89933693, 89940531-89940537, 89941875, 89971951-89971958, 89971968-89971972, 89971975, 89971983-89971985, 89971990, 90004680, 90020712-90020717, 90020722-90020726, 90020786-90020806, 90074337-90074338, 90144593-90144597, 90144604, 90144607-90144610, 90144616
391	WDR36	5	0.9859943977591	40	2856	110432784-110432802, 110436322-110436336, 110436371-110436374, 110436406, 110436414
392	APC	5	0.99964838255977	3	8532	112128143-112128144, 112128185
393	HSD17B4	5	0.99728629579376	6	2211	118835034, 118835047, 118835137, 118835146, 118862836, 118862839
394	HSD17B4	5	0.99290780141844	2	282	118862836, 118862839
395	ALDH7A1	5	0.99753086419753	4	1620	125904038-125904041
396	FBN2	5	0.99485066941298	45	8739	127597441, 127702073-127702080, 127702089-127702123, 127863654
397	MYOT	5	0.97795591182365	33	1497	137221737, 137221789, 137221805-137221808, 137221819-137221824, 137221847-137221850, 137221859, 137221867-137221870, 137221875-137221876, 137221880-137221886, 137221900-137221902
398	MATR3	5	0.99882075471698	3	2544	138651866, 138658511, 138658514
399	DIAPH1	5	0.97433883215501	98	3819	140909182-140909187, 140953423-140953429, 140953452-140953454, 140953457, 140953515-140953553, 140953560-140953601
400	GABRG2	5	0.99483204134367	8	1548	161569239-161569246
401	MSX2	5	0.99875621890547	1	804	174151898
402	GRM6	5	0.98671222475323	35	2634	178421675-178421677, 178421681, 178421798-178421801, 178421864-178421869, 178421892-178421898, 178421902, 178421909-178421911, 178421923, 178421927-178421934, 178421937
403	FLT4	5	0.99975562072336	1	4092	180038338
404	FOXC1	6	0.99458483754513	9	1662	1611504-1611506, 1611799, 1611802-1611806
405	TUBB2B	6	0.99925261584454	1	1338	3225482
406	DSP	6	0.99953574744661	4	8616	7581403-7581406
407	ATXN1	6	0.97058823529412	72	2448	16327857, 16327862-16327932
408	ALDH5A1	6	0.99271402550091	12	1647	24502790-24502801
409	HFE	6	0.99904489016237	1	1047	26091779
410	HLA-H	6	0.948	39	750	29856330, 29856397, 29856406, 29856418-29856421, 29856427, 29856505, 29856516, 29856534, 29856546, 29856550-29856552, 29856593-29856614, 29856643, 29856693
411	TNXB	6	0.92327630896838	148	1929	31976896-31976929, 31977388-31977394, 31977525-31977555, 31977994-31978001, 31978498-31978517, 31978782-31978815, 31979403-31979409, 31979476-31979482
412	CYP21A2	6	0.94422043010753	83	1488	32006200-32006242, 32006337, 32006384-32006390, 32008195-32008201, 32008445-32008454, 32008893-32008907
413	TNXB	6	0.99512923246131	62	12729	32009648-32009664, 32010123-32010129, 32010269-32010275, 32010728-32010735, 32011235, 32011248, 32012257-32012263, 32012330-32012336, 32013034-32013040
414	HLA-DQA1	6	0.97395833333333	20	768	32610387-32610406
415	HLA-DQB1	6	0.88804071246819	88	786	32629224-32629234, 32632575-32632651
416	COL11A2	6	0.99904049126847	5	5211	33140131-33140135
417	SYNGAP1	6	0.9280753968254	290	4032	33388042-33388108, 33393610-33393679, 33411512, 33411518-33411522, 33411528-33411535, 33411544-33411680, 33411683, 33411686
418	RUNX2	6	0.95530012771392	70	1566	45390433-45390438, 45390444, 45390447-45390495, 45390501-45390502, 45390520-45390523, 45399698-45399705
419	CD2AP	6	0.99166666666667	16	1920	47471055, 47563645-47563650, 47563660-47563661, 47575692-47575698
420	MUT	6	0.98180204172215	41	2253	49409553-49409554, 49409575, 49409597-49409628, 49409645-49409646, 49409667, 49412433, 49421387, 49423854
421	PKHD1	6	0.999918200409	1	12225	51497429
422	EYS	6	0.99194488606253	76	9435	65098654, 65098704, 65146117, 65149098, 65523291-65523297, 65523349-65523398, 65523417-65523423, 65596590-65596594, 66063399, 66063423, 66115135
423	LMBRD1	6	0.96919285274184	50	1623	70408938-70408975, 70410731-70410735, 70410740, 70410743-70410746, 70462183-70462184
424	COL9A1	6	0.99963846710051	1	2766	70981371
425	RIMS1	6	0.99448710376058	28	5079	72974733-72974742, 73023306, 73023309-73023311, 73023314-73023319, 73023329-73023335, 73108758
426	SLC17A5	6	0.98185483870968	27	1488	74331584-74331597, 74331647, 74354144-74354155
427	MYO6	6	0.99948159668222	2	3858	76564983, 76623808
428	LCA5	6	0.99331423113658	14	2094	80196768-80196771, 80196774, 80196780, 80201343-80201349, 80202289
429	BCKDHB	6	0.98218829516539	21	1179	80881008-80881013, 80881024, 80881043-80881047, 80881069, 80881073, 80881090-80881094, 80881102, 80881107
430	RARS2	6	0.99942429476108	1	1737	88231226
431	PDSS2	6	0.9975	3	1200	107780274, 107780297, 107780300
432	OSTM1	6	0.97114427860697	29	1005	108365989-108366017
433	FIG4	6	0.99743024963289	7	2724	110081478-110081481, 110106228-110106230
434	WISP3	6	0.96514745308311	39	1119	112389540-112389578
435	ENPP1	6	0.97696184305256	64	2778	132171184, 132203485-132203487, 132203490, 132203495-132203503, 132203526-132203536, 132203546-132203583, 132203594
436	EYA4	6	0.99791666666667	4	1920	133767861, 133783581-133783583
437	AHI1	6	0.99916457811195	3	3591	135763744-135763745, 135777015
438	PEX7	6	0.93518518518519	63	972	137143860-137143867, 137167221, 137167242-137167246, 137167254-137167293, 137167299-137167307
439	PEX3	6	0.9982174688057	2	1122	143792219, 143792573
440	IYD	6	0.98850574712644	10	870	150719260-150719269
441	SYNE1	6	0.99825717966204	46	26394	152545677, 152545788, 152630985-152630986, 152730731-152730760, 152730782-152730788, 152737829-152737832, 152819885
442	PARK2	6	0.99499284692418	7	1398	161969938-161969944
443	TBP	6	0.93627450980392	65	1020	170871021-170871032, 170871036-170871040, 170871043, 170871046, 170871049-170871054, 170871058-170871069, 170871076, 170871079-170871082, 170871085-170871090, 170871093-170871109
444	LFNG	7	0.8719298245614	146	1140	2559496-2559563, 2559573-2559591, 2559604-2559606, 2559610-2559620, 2559623, 2559635, 2559639-2559648, 2559662-2559687, 2559748-2559750, 2559758, 2559774-2559775, 2559894
445	PMS2	7	0.99459250675937	14	2589	6029437-6029443, 6029450-6029456
446	TWIST1	7	0.7487684729064	153	609	19156666, 19156793-19156944
447	DNAH11	7	0.9991895078102	11	13572	21630567, 21630610-21630613, 21630617-21630619, 21630623, 21893935, 21894024
448	FAM126A	7	0.99489144316731	8	1566	23004047-23004054
449	HOXA1	7	0.99702380952381	3	1008	27135317-27135319
450	HOXA13	7	0.82519280205656	204	1167	27239078-27239103, 27239309, 27239313-27239314, 27239331-27239355, 27239369, 27239378-27239461, 27239464, 27239472-27239474, 27239530-27239590
451	GARS	7	0.99864864864865	3	2220	30642695-30642697
452	BBS9	7	0.98948948948949	28	2664	33303943-33303962, 33303979-33303986
453	TXNDC3	7	0.98415393322015	28	1767	37916560-37916587
454	GLI3	7	0.99894581488509	5	4743	42005588, 42005591-42005594
455	CCM2	7	0.97752808988764	30	1335	45039933-45039962
456	KCTD7	7	0.99885057471264	1	870	66094154
457	SBDS	7	0.99070385126162	7	753	66456158-66456164
458	NCF1	7	0.9830303030303	14	825	72640033-72640039, 72643704-72643710
459	ELN	7	0.99908045977011	2	2175	73442546, 73442553
460	NCF1	7	0.99317988064791	8	1173	74193665-74193671, 74203016
461	HGF	7	0.99771376314586	5	2187	81340799-81340800, 81340804, 81340815, 81399267
462	AKAP9	7	0.9959911293074	47	11724	91609603-91609647, 91714911, 91714919
463	KRIT1	7	0.99276345545002	16	2211	91844039, 91851271-91851281, 91867006-91867009
464	PEX1	7	0.99844236760125	6	3852	92134103, 92134107, 92157671-92157674
465	COL1A2	7	0.99512314069739	20	4101	94030912-94030916, 94030929, 94049712-94049717, 94049908-94049911, 94049918-94049920, 94058703
466	SGCE	7	0.99705014749263	4	1356	94252700, 94259062-94259064
467	SLC25A13	7	0.99950763170852	1	2031	95906560
468	TFR2	7	0.99958437240233	1	2406	100229459
469	SLC26A5	7	0.97941834451902	46	2235	103017264-103017309
470	RELN	7	0.99980726606919	2	10377	103417009-103417010
471	SLC26A4	7	0.9995731967563	1	2343	107323947
472	IFRD1	7	0.99926253687316	1	1356	112101922
473	CFTR	7	0.95633580913797	194	4443	117188713-117188753, 117188760-117188800, 117188842-117188877, 117234990, 117234998-117235020, 117235030, 117235041-117235046, 117235068-117235112
474	AASS	7	0.99532542250989	13	2781	121769507, 121769546-121769548, 121769552, 121769577-121769582, 121769590-121769591
475	IMPDH1	7	0.99944444444444	1	1800	128049854
476	ATP6V0A4	7	0.95798652397939	106	2523	138394369-138394441, 138394448-138394468, 138394491-138394496, 138394501, 138394507-138394511
477	BRAF	7	0.98739678400695	29	2301	140477806-140477813, 140477817-140477818, 140477826-140477838, 140624408-140624413
478	PRSS1	7	0.85215053763441	110	744	142458448-142458489, 142459676-142459697, 142460332-142460338, 142460366-142460397, 142460798-142460804
479	CLCN1	7	0.99932591843613	2	2967	143017836-143017837
480	CNTNAP2	7	0.9984984984985	6	3996	145813984-145813988, 145813997
481	KCNH2	7	0.96896551724138	108	3480	150644587, 150644595-150644601, 150644700-150644718, 150644735-150644745, 150644753-150644775, 150648903, 150671857-150671858, 150671864, 150671867-150671898, 150674976-150674977, 150674979, 150674982, 150674987-150674992, 150674998
482	SHH	7	0.99784017278618	3	1389	155595799, 155595804, 155595809
483	MNX1	7	0.90464344941957	115	1206	156802603-156802606, 156802656-156802750, 156802754, 156802771-156802779, 156802790, 156802900, 156802904-156802907
484	GATA4	8	0.99924755455229	1	1329	11565884
485	TUSC3	8	0.99904489016237	1	1047	15480596
486	ADAM9	8	0.99837398373984	4	2460	38880737, 38959436-38959438
487	THAP1	8	0.99065420560748	6	642	42693203-42693205, 42693237-42693239
488	HGSNAT	8	0.99947589098532	1	1908	42995701
489	RP1	8	0.99969092875908	2	6471	55539056-55539057
490	CHD7	8	0.99866577718479	12	8994	61749503-61749507, 61749514-61749520
491	NBN	8	0.99867549668874	3	2265	90960112-90960114
492	TMEM67	8	0.99096385542169	27	2988	94777841, 94777846-94777847, 94777851-94777854, 94777858, 94811933-94811950, 94827552
493	GDF6	8	0.99780701754386	3	1368	97172684-97172686
494	VPS13B	8	0.99091212272803	109	11994	100050750-100050768, 100123387, 100123390-100123398, 100123406-100123421, 100123440-100123441, 100123445-100123452, 100123457-100123460, 100123462-100123464, 100146860-100146863, 100146913-100146915, 100287407-100287413, 100287438-100287461, 100513982-100513989, 100514013
495	RRM2B	8	0.99905303030303	1	1056	103231155
496	DPYS	8	0.99807692307692	3	1560	105405098-105405100
497	KCNQ3	8	0.99579992363498	11	2619	133492567, 133492575, 133492761, 133492763-133492770
498	TG	8	0.99987961959793	1	8307	133882071
499	CYP11B1	8	0.96097883597884	59	1512	143958288-143958294, 143958513-143958533, 143958572-143958602
500	CYP11B2	8	0.97619047619048	36	1512	143993988-143993994, 143994026-143994032, 143994263-143994282, 143996539, 143996553
501	PLEC	8	0.99672714336535	46	14055	144993060-144993062, 144996225-144996236, 144996242-144996250, 144996255-144996258, 144996376-144996377, 144996383, 144997101-144997107, 144998910-144998917
502	GPT	8	0.99932930918846	1	1491	145731671
503	KCNV2	9	0.9969474969475	5	1638	2718763-2718767
504	JAK2	9	0.97116799058547	98	3399	5077453-5077547, 5077570-5077572
505	TRPM6	9	0.99967045641786	2	6069	77473585-77473586
506	VPS13A	9	0.97795275590551	210	9525	79814894-79814904, 79824380, 79835245, 79840889-79840897, 79841397-79841403, 79841425-79841429, 79841440-79841443, 79843087, 79843135, 79843143, 79891023, 79896799-79896807, 79896822-79896830, 79896838-79896842, 79897124-79897159, 79908323-79908325, 79908328, 79928915-79928918, 79932533-79932534, 79932546-79932549, 79932556-79932562, 79932569, 79932574-79932578, 79932590-79932595, 79932607-79932614, 79933168, 79934492-79934499, 79938003-79938011, 79946937-79946940, 79946950-79946961, 79946969-79946976, 79946985-79946988, 79947000-79947006, 79959105, 79980472-79980474, 79980477-79980478, 79996909-79996913, 79996927-79996928, 79996956, 79996965
507	FOXE1	9	0.98306595365419	19	1122	100616697-100616706, 100616709-100616712, 100616731-100616735
508	TGFBR1	9	0.99669312169312	5	1512	101867538-101867540, 101867546, 101867549
509	INVS	9	0.99968730456535	1	3198	103015358
510	FKTN	9	0.9992784992785	1	1386	108337390
511	MUSK	9	0.9992337164751	2	2610	113449488, 113562946
512	NR5A1	9	0.99422799422799	8	1386	127245164, 127245170-127245172, 127245175-127245178
513	SETX	9	0.9991287030122	7	8034	135139881-135139885, 135139888, 135139891
514	CEL	9	0.86085424922941	316	2271	135946012-135946018, 135946654-135946660, 135946668-135946801, 135946807-135946966, 135946992-135946999
515	ADAMTS13	9	0.98832866479925	50	4284	136293839-136293888
516	DBH	9	0.99838187702265	3	1854	136522279, 136523501-136523502
517	COL5A1	9	0.99311219865869	38	5517	137534078-137534082, 137534086-137534118
518	LHX3	9	0.98263027295285	21	1209	139090809-139090812, 139090880-139090883, 139090892, 139094822-139094828, 139094835-139094836, 139094858-139094860
519	AGPAT2	9	0.95340501792115	39	837	139581751-139581789
520	SLC34A3	9	0.96777777777778	58	1800	140128343-140128377, 140128606-140128628
521	EHMT1	9	0.99948678470618	2	3897	140605472, 140705914
522	FANCB	X	0.99961240310078	1	2580	14877413
523	AP1S2	X	0.98945147679325	5	474	15870609-15870612, 15870615
524	RPS6KA3	X	0.99910031488979	2	2223	20213252, 20222145
525	SMS	X	0.97456857402361	28	1101	21958963-21958990
526	ARX	X	0.97335701598579	45	1689	25031371-25031385, 25031651, 25031655-25031671, 25031676, 25031683-25031684, 25031780-25031783, 25031796, 25031799, 25031807-25031809
527	NR0B1	X	0.99150743099788	12	1413	30327318-30327329
528	GK	X	0.99939831528279	1	1662	30718976
529	DMD	X	0.99801049014288	22	11058	31893379-31893380, 32383283, 32398628, 32398656-32398659, 32398667-32398672, 32398683, 32398716, 32490316-32490319, 32613895-32613896
530	RPGR	X	0.94709453599306	183	3459	38145340-38145343, 38145346, 38145354-38145355, 38145403-38145404, 38145423, 38145462-38145631, 38145638-38145640
531	TSPAN7	X	0.988	9	750	38546867-38546875
532	NYX	X	0.99930843706777	1	1446	41333950
533	RP2	X	0.99810066476733	2	1053	46739177-46739178
534	SYN1	X	0.99905571293673	2	2118	47433816, 47434109
535	WAS	X	0.99801192842942	3	1509	48547215, 48547218, 48547237
536	CLCN5	X	0.9983680130559	4	2451	49834610-49834613
537	AR	X	0.95874049945711	114	2763	66765149-66765153, 66765155-66765221, 66765617-66765628, 66766119, 66766357-66766362, 66766365-66766374, 66766377-66766389
538	MED12	X	0.98316498316498	110	6534	70338605-70338606, 70338619, 70338650, 70338660, 70338664, 70338688, 70349619-70349622, 70360596-70360598, 70360613-70360617, 70360626, 70360629, 70360633-70360635, 70360639-70360686, 70361106-70361139, 70361196, 70361201-70361202, 70361212
539	TAF1	X	0.96832101372756	180	5682	70586165-70586344
540	PHKA1	X	0.99891067538126	4	3672	71813031-71813034
541	SLC16A2	X	0.98208469055375	33	1842	73641370-73641372, 73641378-73641381, 73641385-73641410
542	ATRX	X	0.99893033828052	8	7479	76813032, 76814154, 76875980-76875985
543	ATP7A	X	0.99933377748168	3	4503	77227222, 77227226, 77227237
544	BRWD3	X	0.98520983545942	80	5409	79959090, 79964990, 79965017-79965024, 79991487-79991493, 79991496, 79991499, 79991502, 79991512-79991513, 79991540-79991545, 79991547, 79991565-79991572, 79991580-79991587, 80001098-80001101, 80064940-80064970
545	ZNF711	X	0.99956255468066	1	2286	84520199
546	CHM	X	0.99592252803262	8	1962	85166314-85166315, 85211280-85211283, 85212860, 85213982
547	SRPX2	X	0.99570815450644	6	1398	99917292-99917297
548	COL4A5	X	0.99683669434559	16	5058	107819173-107819179, 107834400-107834403, 107834413-107834417
549	LAMP2	X	0.98462783171521	19	1236	119590530-119590540, 119590570-119590576, 119590587
550	XIAP	X	0.99732262382865	4	1494	123025098, 123025116, 123025120, 123025124
551	PHF6	X	0.98269581056466	19	1098	133549100, 133549103, 133549112-133549115, 133559237-133559249
552	SLC9A6	X	0.99382716049383	13	2106	135067696, 135104745-135104755, 135104833
553	ZIC3	X	0.95655270655271	61	1404	136648985-136648987, 136651085-136651090, 136651096-136651133, 136651138-136651144, 136651172-136651178
554	SOX3	X	0.96644295302013	45	1341	139586142-139586146, 139586149-139586153, 139586168, 139586170-139586173, 139586434-139586441, 139586445, 139586451-139586459, 139586465, 139586468-139586478
555	SLC6A8	X	0.87893081761006	231	1908	152954030-152954248, 152959897-152959901, 152960547-152960553
556	ABCD1	X	0.93297587131367	150	2238	153006138-153006144, 153008473-153008487, 153008675-153008688, 153008705-153008734, 153008785-153008791, 153008981-153008987, 153009014-153009033, 153009059-153009089, 153009137-153009155
557	AVPR2	X	0.99551971326165	5	1116	153172050, 153172060-153172063
558	MECP2	X	0.95791583166333	63	1497	153296204, 153363061-153363122
559	OPN1LW	X	0.94337899543379	62	1095	153418453-153418471, 153418520-153418544, 153420173-153420179, 153421909-153421919
560	OPN1MW	X	0.92237442922374	85	1095	153455583-153455593, 153455650-153455668, 153457294-153457302, 153458997, 153459000-153459003, 153459043-153459083
561	OPN1MW	X	0.95068493150685	54	1095	153492701-153492719, 153492768-153492786, 153494412-153494420, 153496161-153496167
562	IKBKG	X	0.98907103825137	16	1464	153792557-153792572
563	IKBKG	X	0.96728016359918	16	489	153868355-153868370

Effect rank	Variant	Phase/ Zygosity	Allele freq	Impact	Evaluation	Summary / Info
5	BRCA1-Q356R	het unknown	0.023	Dominant pathogenic	Moderate clinical importance, likely	This variant was associated with an increased susceptibility to breast cancer. Johnson et al. found strongest significance for a dominant hypothesis. We estimate a woman carrying this variant to have an attributable increased lifetime risk of breast cancer of ~6% (~18% total, assuming 12% average lifetime risk).
2.5	NOD2-P268S	homozygous	0.105	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2.5	NOD2-R702W	het unknown	0.012	Complex/Other pathogenic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.97 (probably damaging), Testable gene in GeneTests
2.5	MC2R-S74I	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
2	SP110-M523T	homozygous	0.319	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2	SP110-L425S	homozygous	0.875	Unknown pathogenic	Low clinical importance, uncertain	This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
2	SP110-W112R	homozygous	0.945	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2	CHIT1-A442G	het unknown	0.092	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	CHIT1-V357V*	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests
2	CHIT1-G102S	het unknown	0.268	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests
2	CHIT1-E74K	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
2	KCNJ11-V337I	homozygous	0.761	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2	KCNJ11-K23E	homozygous	0.711	Unknown protective	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2	PCSK9-V474I	homozygous	0.859	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	PCSK9-G670E	homozygous	0.848	Unknown benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	ABCG8-D19H	het unknown	0.043	Complex/Other pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
2	ABCG8-Y54C	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests
2	ABCG8-V632A	homozygous	0.908	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	APOB-S4338N	homozygous	0.725	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	APOB-E4181K	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	APOB-I2313V	het unknown	0.964	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	APOB-Y1422C	homozygous	0.994	Unknown benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	APOB-A618V	het unknown	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	APOB-T98I	het unknown	0.149	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	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	KEL-T193M	het unknown	0.016	Dominant benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging)
2	NEFL-S472Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
1.5	CILP-Q979R	homozygous	0.986	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1.5	CILP-K575E	homozygous	0.974	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1.5	CILP-I395T	homozygous	0.491	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1.5	APOA5-S19W	het unknown	0.039	Unknown pathogenic	Low clinical importance, likely	This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.
1.5	ITGAM-R77H	het unknown	0.095	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.048 (benign)
1.5	ITGAM-A859V	het unknown	0.136	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1.5	ITGAM-P1147S	het unknown	0.141	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1.5	PRNP-M129V	het unknown	0.258	Complex/Other protective	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1	GATSL1-N17K	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	C17orf103-C16Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SEBOX-L207S	homozygous	0.913	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	SEBOX-W10Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	TAS2R38-I296V	het unknown	0.534	Unknown benign	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.984 (probably damaging)
1	TAS2R38-A262V	het unknown	0.397	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.01 (benign)
1	TAS2R38-A49P	het unknown	0.495	Unknown benign	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PIK3R6-L609Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KCP-H313Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KCP-A16Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	MAPT-Y441H	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ELAC2-S217L	het unknown	0.209	Complex/Other pathogenic	Low clinical importance, uncertain	Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).
1	ZNF167-N494Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AGL-Q229R	het unknown	0.046	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-Q256R	homozygous	0.215	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-Q158H	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-G157S	homozygous	0.140	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-V148I	homozygous	0.140	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-D89S	het unknown	0.200	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-D89S	het unknown	0.200	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-A70V	homozygous	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-Y62H	homozygous	0.140	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-L58G	homozygous	0.132	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-M46L	homozygous	0.140	Unknown not reviewed	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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-L28S	homozygous	0.375	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-M24I	homozygous	0.294	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-A6S	homozygous	0.154	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	INSR-A2G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
1	TNXB-R48P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	DCAF15-C482Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	C19orf55-G398Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HSH2D-S223Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CYP4A22-R126W	homozygous	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CYP4A22-G130S	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
1	CYP4A22-N152Y	homozygous	0.790	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CYP4A22-V185F	homozygous	0.140	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.472 (possibly damaging)
1	CYP4A22-C231R	homozygous	0.598	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CYP4A22-L428P	homozygous	0.297	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	homozygous	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
1	CUL7-Q813R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	IL23R-Q3H	homozygous	0.501	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
1	IL23R-L310P	homozygous	0.884	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	IL23R-R381Q	het unknown	0.029	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
1	DPYD-S534N	het unknown	0.031	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
1	DPYD-R29C	homozygous	0.731	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	TGIF1-P83Shift	het unknown	0.139	Complex/Other pathogenic	Low clinical importance, uncertain	Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.
1	ALG6-S306F	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ATP8B1-A1152T	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ATP8B1-R952Q	het unknown	0.052	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	TTR-G26S	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	DSG2-I293V	het unknown	0.036	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	DSG2-E713K	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
1	DSG2-R773K	het unknown	0.221	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1	ZFPM1-E444Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZFPM1-L446Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	MSH6-G39E	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 5 Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	CEP290-K838E	het unknown	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CEP290-D664G	het unknown	0.134	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	CEP290-E277Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	TMPO-Q599E	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 5 Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	SMPD1-AL48Del	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	SMPD1-G508R	homozygous	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	SFTPA2-T9N	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	ABCC2-Y39F	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	ABCC2-V417I	het unknown	0.195	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1	ABCC2-V1188E	het unknown	0.086	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	ABCC2-C1515Y	het unknown	0.095	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	SCARB1-G2S	het unknown		Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.937 (probably damaging)
1	MS4A14-I56Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	MS4A14-N177Y	homozygous	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.981 (probably damaging)
1	MS4A14-G584R	homozygous	0.513	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
1	KRT4-G160GAGGFGAGFGTGGFG	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	XDH-R1296W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.954 (probably damaging), Testable gene in GeneTests
1	TYR-R402Q	het unknown	0.063	Complex/Other benign	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	CLECL1-S52Shift	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	B3GNT6-L316Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	B3GNT6-L335Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CELA1-L210Shift	homozygous	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
1	CELA1-M59V	homozygous	0.142	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging)
1	CELA1-Y5P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	CELA1-V3Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ABCG5-Q604E	het unknown	0.191	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
1	ABCG5-R50C	het unknown	0.070	Unknown protective	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
1	CYP1B1-N453S	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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-A119S	het unknown	0.080	Unknown not reviewed	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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	MYH6-V1663I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	MYH6-DA1661ET	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	MYH6-V1101A	het unknown	0.422	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	MYH6-G56R	het unknown	0.049	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	C14orf104-D768G	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	C14orf104-E62D	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HRNR-L2688S	homozygous	0.939	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-S799T	het unknown	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-R664Q	het unknown	0.568	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-Y517C	het unknown	0.185	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-G492R	het unknown	0.588	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-E473G	homozygous	0.951	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-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	het unknown	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.078 (benign)
1	HRNR-M1Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	GSPT1-V100A	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	GSPT1-G92C	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
1	GSPT1-S23G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	PLEKHA2-P389Shift	homozygous	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ATG9B-A765Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SPG7-K117R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	SPG7-T503A	het unknown	0.095	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1	SPG7-R688Q	het unknown	0.072	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1	CYBA-Y72H	homozygous	0.649	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	DLL3-F172C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 5 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	DLL3-L218P	het unknown	0.650	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ZNF598-M637T	homozygous	0.601	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF598-R381Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF598-G42Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZNF598-E25G	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF598-E17A	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF598-DM13AL	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF598-G6Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027242-L311R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NR_027242-L114P	homozygous		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	PTCHD3-*768Q	homozygous	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PTCHD3-I584M	homozygous	0.963	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PTCHD3-M521T	homozygous	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PTCHD3-D473G	homozygous	0.499	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging)
1	PTCHD3-C407G	homozygous	0.490	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (probably damaging)
1	PTCHD3-S309Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	RDH12-R161Q	het unknown	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.941 (probably damaging), 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-R30395H	het unknown		Unknown not reviewed	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-I29477T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V28135M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I26820T	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I25199V	homozygous		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-R21422H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-A19840P	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V19783I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-T18827I	homozygous		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	homozygous	0.469	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-G9378R	het unknown	0.395	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I9278V	homozygous	0.450	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I8474T	het unknown	0.114	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-R8194Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-P7650L	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-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	homozygous	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-A5710V	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S5190N	het unknown	0.058	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S3419N	het unknown	0.850	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V3261M	het unknown	0.840	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-K3154R	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-G2392S	het unknown	0.060	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S1295L	homozygous	0.881	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-R328C	het unknown	0.242	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	TOR1A-D216H	het unknown	0.089	Unknown protective	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1	NPRL3-R536C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NPRL3-L489Shift	homozygous	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	F5-M1764V	homozygous	0.273	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-P1404S	het unknown	0.077	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-K925E	homozygous	0.196	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-H865R	homozygous	0.238	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-K858R	homozygous	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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	LOXL1-R141L	het unknown		Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
1	GSTM1-K173N	homozygous	1.000	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	COL18A1-V144I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	COL18A1-A288T	het unknown	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.017 (benign), Testable gene in GeneTests
1	COL18A1-T379M	het unknown	0.325	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
1	COL18A1-PGP1362Del	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	VSIG10L-Q860Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	VSIG10L-R592Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-M356I	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	PCSK1-S690T	het unknown	0.218	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1	PCSK1-Q665E	het unknown	0.238	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	PCSK1-N221D	het unknown	0.020	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
1	PADI6-V343Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	DGKK-L1014Shift	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-A814G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-DV772EL	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-E764Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCARF2-P747Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	PRDM15-S1481P	homozygous	0.995	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PRDM15-R88Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZNF480-C3Shift	homozygous		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	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	COL6A2-S399N	homozygous	0.727	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	COL6A2-R680H	homozygous	0.389	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	ALG1L2-L157Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AX746903-T82Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZNF761-L47Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZNF761-I122S	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF761-V168I	homozygous		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	KRTAP7-1-I61S	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	KRTAP7-1-S51P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	KRTAP7-1-Y17Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027052-Q90*	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	ZNF880-N106Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZNF880-N140NN	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF880-R198S	homozygous	0.354	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF880-N202H	homozygous	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF880-Q406R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF880-K471R	homozygous	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF880-H483Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ERCC2-K751Q	homozygous	0.218	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ERCC2-R666W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ERCC2-D312N	homozygous	0.145	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
1	TCEAL6-Q175Shift	homozygous	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	FAM58A-G4Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
1	APOE-L46P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	APOE-C130R	het unknown	0.010	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests
1	SEPN1-C108Y	homozygous	0.789	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	SEPN1-N467K	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	AURKA-I57V	homozygous	0.814	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.75	AURKA-F31I	het unknown	0.366	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.75	MEFV-I591T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	MEFV-R202Q	het unknown	0.111	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0.75	BLMH-I443V	het unknown	0.241	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.75	EDN1-K198N	het unknown	0.235	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
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	het unknown	0.285	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625	MTRR-K377R	het unknown	0.260	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625	MTRR-H622Y	het unknown	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625	RSPH4A-L589P	het unknown	0.707	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625	RSPH4A-W607Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
0.5	CDH12-I284V	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	CDH12-V68M	het unknown	0.403	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HEXB-L62S	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HEXB-I207V	homozygous	0.139	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.119 (benign), Testable gene in GeneTests
0.5	KIAA1462-R957G	homozygous	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.109 (benign)
0.5	KIAA1462-E24K	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	FAM105A-F319L	het unknown	0.028	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.916 (probably damaging)
0.5	FAM134B-G80Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
0.5	FAM134B-L79P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	OPTN-K322E	homozygous	0.986	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TAF1L-M371V	het unknown	0.038	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	CUBN-S2717W	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-C2162Y	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-L2153F	homozygous	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-P1559S	homozygous	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-P389T	het unknown	0.513	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-F253S	het unknown	0.801	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LRP2-I4210L	homozygous	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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	LRP2-V3999G	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LRP2-A2872T	het unknown	0.327	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LRP2-G259R	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	PPYR1-V276M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.889 (probably damaging)
0.5	MCCC1-H464P	homozygous	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SCN1A-A1056T	homozygous	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CHAT-V461M	homozygous	0.927	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ABCB11-V444A	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	DNAI1-A8S	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SHARPIN-R365H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	DNAH5-I4450V	homozygous	0.481	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-A4134V	het unknown	0.450	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-T3791I	het unknown	0.053	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-Q2463R	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-T558A	homozygous	0.395	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-H12Q	homozygous	0.896	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NOTCH1-A1640P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NOTCH1-E848K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	GPT-H14N	homozygous	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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-P97T	homozygous	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5	DOCK8-A597V	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5	SVEP1-T3559M	het unknown	0.144	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.964 (probably damaging)
0.5	SVEP1-E1810A	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.015 (benign)
0.5	SVEP1-K899R	het unknown	0.178	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SVEP1-I637V	het unknown	0.044	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	SVEP1-G332A	het unknown	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.004 (benign)
0.5	AP3B1-V999M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AP3B1-V585E	homozygous	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CPO-M85I	homozygous	0.426	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5	CPO-S134R	homozygous	0.476	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ABCA1-L1648V	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ABCA1-K1587R	homozygous	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COL5A2-P833L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL5A2-V512A	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.445 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	ALS2-V368M	homozygous	0.869	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GLDC-A794T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GLDC-R410S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 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	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	CD72-V50L	het unknown	0.012	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.289 (possibly 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	POMT1-D411E	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KIF24-W218L	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	KIF24-M140V	het unknown	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.091 (benign)
0.5	DFNB31-N796K	het unknown	0.197	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-V783A	het unknown	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-H752Q	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-M613T	het unknown	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-P562A	het unknown	0.036	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-A440T	het unknown	0.197	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	CDK5RAP2-V1540L	homozygous	0.714	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDK5RAP2-E289Q	homozygous	0.801	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RECQL4-R1021Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RECQL4-R1005Q	homozygous	0.258	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-E267D	homozygous	0.471	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, 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	LCT-N1639S	het unknown	0.383	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LCT-I362V	homozygous	0.944	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LCT-V219I	het unknown	0.426	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TTLL10-C97R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TTLL10-V249A	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	TTLL10-G578D	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.257 (possibly damaging)
0.5	VPS37C-Y342C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	VPS37C-L198S	het unknown	0.849	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	VPS37C-V182D	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging)
0.5	VPS37C-T8N	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging)
0.5	ROM1-G118A	homozygous	0.931	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5	STX5-R121C	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	IDUA-H33Q	homozygous	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5	UGT2B15-K523T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	UGT2B15-Y85D	homozygous	0.500	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CPN2-Q509R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CPN2-Q509R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	MANBA-T701M	homozygous	0.554	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PEX16-V116I	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MTTP-I128T	het unknown	0.250	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MTTP-H297Q	het unknown	0.636	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MTTP-G661S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MEN1-T546A	homozygous	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCYL1-D633Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SCYL1-A635Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	TRIM64-I58T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TRIM64-R162S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	TRIM64-V238M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TRIM64-E242V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TRIM64-Q358R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TRIM64-Q405R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	TRPC6-P15S	het unknown	0.069	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ATM-F858L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATM-P1054R	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATM-N1983S	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KDELC2-P144L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	ALK-D1529E	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALK-K1491R	homozygous	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ALK-I1461V	homozygous	0.982	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	EVC-Y258H	het unknown	0.721	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5	EVC-T449K	homozygous	0.871	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AIP-Q228K	homozygous	0.732	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AIP-Q307R	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NR_027251-H75Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	TLR6-S249P	homozygous	0.855	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	WFS1-V333I	het unknown	0.889	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WFS1-R611H	het unknown	0.442	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	HTT-T994R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HTT-I1091M	het unknown	0.029	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5	HTT-Y2309H	het unknown	0.459	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HTT-V2786I	het unknown	0.193	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CFI-T300A	homozygous	0.957	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC6A5-F124S	het unknown	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	SLC6A5-K457N	het unknown	0.065	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SLC6A5-D463N	het unknown	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CFC1-W78R	homozygous	0.966	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	BBS12-R386Q	homozygous	0.515	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5	BBS12-D467N	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-T210M	het unknown	0.557	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HABP2-T50M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	RTP1-R174C	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	RTP1-Q229E	het unknown	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RAB3GAP1-N598S	homozygous	0.207	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC29A3-R18G	het unknown	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC29A3-S158F	homozygous	0.453	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC29A3-V239I	homozygous	0.771	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC29A3-I326V	homozygous	0.824	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AGA-A251E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AGA-T250A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AGA-T149S	homozygous	0.925	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CDH23-N1349D	homozygous	0.772	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-A1572T	homozygous	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-R1801Q	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-E2041K	homozygous	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-R2355Q	homozygous	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-P2377L	homozygous	0.338	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-F3122L	het unknown	0.055	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-A6277P	het unknown	0.691	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-D5621A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-V5619E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-D5573N	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-R4389T	het unknown	0.724	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-K1027N	homozygous	0.476	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CLCN2-T668S	homozygous	0.378	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	RGPD4-D761G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	RGPD4-P1302L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	RGPD4-T1410R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	FANK1-L329V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.884 (probably damaging)
0.5	INSC-D333N	het unknown	0.007	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.985 (probably damaging)
0.5	PITX2-A188T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ABCC8-A1369S	homozygous	0.755	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DYSF-R1040Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DYSF-R1349L	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-S524SP	homozygous	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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-R4029K	homozygous	0.527	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNPO2-R147Del	het unknown	0.273	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SYNPO2-T573A	het unknown	0.829	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SYNPO2-R1009W	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	RNH1-P170L	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.881 (probably damaging)
0.5	LRDD-R652W	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	EIF2AK3-S136C	homozygous	0.285	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TRPM5-G900S	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TRPM5-V335L	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.98 (probably damaging)
0.5	TRPM5-V254A	homozygous	0.794	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC4A5-V1106I	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests
0.5	VCAN-G428D	homozygous	0.215	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	PLEC-V4440M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-R2969H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-S2791P	het unknown	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-A2194V	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-H1459R	het unknown	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-R1386Q	het unknown	0.276	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-A641V	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC22A16-V252A	homozygous	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.609 (possibly damaging)
0.5	SLC22A16-H49R	homozygous	0.333	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA4-G1117S	homozygous	0.818	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA4-Y498H	homozygous	0.762	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA4-A283D	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA4-R154W	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging)
0.5	GPRC6A-S924L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	GPRC6A-Y775LP	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	GPRC6A-G773GR	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	GPRC6A-P91S	homozygous	0.689	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	GPRC6A-R57*	het unknown	0.060	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Nonsense mutation
0.5	ADAM19-P834A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ADAM19-S740A	het unknown	0.146	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ADAM19-S284G	homozygous	0.438	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ADAM19-G4S	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	CCRL2-Y4C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging)
0.5	CCRL2-F167Y	het unknown	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.955 (probably damaging)
0.5	CCRL2-I243V	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.206 (possibly damaging)
0.5	AIM1-Q293P	homozygous	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AIM1-E1196A	homozygous	0.935	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.015 (benign)
0.5	AIM1-C1395Y	homozygous	0.243	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.958 (probably damaging)
0.5	IL12B-V298F	het unknown	0.002	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.84 (possibly damaging), Testable gene in GeneTests
0.5	LMBRD1-D469E	homozygous	0.393	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MAP4-V628I	het unknown	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.92 (probably damaging)
0.5	MAP4-E441Q	het unknown	0.046	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.931 (probably damaging)
0.5	MAP4-S427Y	het unknown	0.220	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	MAP4-R23Q	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	CASP8AP2-T1567Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CASP8AP2-S1568Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ROS1-S2229C	homozygous	0.005	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ROS1-K2228Q	homozygous	0.140	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ROS1-D2213N	homozygous	0.135	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	ROS1-R167Q	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.983 (probably damaging)
0.5	SGCD-R96Q	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	XPC-Q939K	homozygous	0.683	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	XPC-A499V	homozygous	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	XPC-L48F	het unknown		Unknown	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	PMS2-P470S	het unknown		Unknown benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
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-T1038A	het unknown	0.747	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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	homozygous	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	HOXA1-R73H	homozygous	0.743	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC36A3-R190H	het unknown	0.021	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.371 (possibly damaging)
0.5	SLC36A3-K167E	het unknown	0.583	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KIF4B-R580L	homozygous	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	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	BCLAF1-R45M	het unknown	0.040	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SYNE1-T8687I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-G8323A	het unknown	0.310	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-F7302V	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-L5015M	het unknown	0.866	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-S4596T	het unknown	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-K4121R	het unknown	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-E4060D	homozygous	0.539	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SLC22A2-S270A	homozygous	0.876	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CAPN7-A128T	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	EYS-R2326Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-N1902I	het unknown	0.316	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-L1419S	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-L852P	homozygous	0.655	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-E641V	het unknown	0.112	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-G631S	het unknown	0.596	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-Q571R	het unknown	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EFHC1-R182H	het unknown	0.038	Unknown benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.038 (benign), Testable gene in GeneTests
0.5	HSPA1L-E602K	het unknown	0.225	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	HSPA1L-T493M	homozygous	0.868	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	TNXB-G2518E	homozygous	0.658	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-H1161R	het unknown	0.568	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GBE1-I334V	homozygous	0.979	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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: 3 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLT4-R1146H	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLT4-H890Q	het unknown	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-N149D	het unknown	0.023	Unknown benign	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.358 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	MDC1-R1883Q	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging)
0.5	DRD3-G9S	homozygous	0.482	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	RETNLB-P20L	het unknown	0.154	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.987 (probably damaging)
0.5	RETNLB-L14Shift	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	GPX6-Y72N	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	GPX6-F13L	het unknown	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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-V92L	het unknown	0.135	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-L145R	het unknown	0.293	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-A147V	het unknown	0.278	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	NR_015394-G45W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NR_015394-F74S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NR_015394-T113Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	COL11A2-P1316T	het unknown	0.072	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TULP1-K261N	homozygous	0.805	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TULP1-I259T	het unknown	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TULP1-T67R	homozygous	0.877	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MUT-I671V	homozygous	0.522	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	F12-A207P	homozygous	0.951	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PKHD1-Q4048R	homozygous	0.566	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-Q3899R	homozygous	0.546	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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-A1262V	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-R760C	het unknown	0.318	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MSX2-M129T	homozygous	0.716	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PROP1-N20S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HGD-Q80H	homozygous	0.742	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	KIF6-W719R	homozygous	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.01 (benign)
0.5	KIF6-R551K	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	MOCS1-R339W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MOCS1-E285K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRPH2-D338G	homozygous	0.761	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRPH2-R310K	homozygous	0.943	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRPH2-Q304E	homozygous	0.877	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	GARS-P42A	homozygous	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	INMT-D28N	het unknown	0.233	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	INMT-M205V	het unknown	0.208	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (probably damaging)
0.5	INMT-F254C	homozygous	0.757	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
0.5	INMT-R258H	het unknown	0.049	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	NAT2-R197Q	het unknown	0.272	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NAT2-R268K	homozygous	0.675	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LPL-S474*	het unknown	0.096	Unknown protective	Insufficiently evaluated	Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-S1400P	het unknown	0.504	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-V1327M	het unknown	0.464	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-P1004L	het unknown	0.528	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-P482S	homozygous	0.493	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-R1767Q	het unknown	0.491	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-Q1578R	homozygous	0.968	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-E1365D	het unknown	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	ASAH1-V246A	homozygous	0.797	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ASAH1-I93V	homozygous	0.384	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ASAH1-V72M	homozygous	0.386	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MCPH1-R171S	homozygous	0.865	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-D314H	homozygous	0.648	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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: 3 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	ABP1-T16M	het unknown	0.315	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ABP1-S332F	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	ABP1-T592S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ABP1-H645D	homozygous	0.520	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.012 (benign)
0.5	FBN2-V965I	homozygous	0.714	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BCHE-A567T	het unknown	0.138	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	BCHE-E283D	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NOS3-D298E	homozygous	0.844	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PRKDC-L1243Shift	homozygous	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.5	PRKDC-M333I	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	ABCA12-S777T	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ARSB-S384N	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.171 (benign), Testable gene in GeneTests
0.5	KLHL38-C504Y	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging)
0.5	KLHL38-R346K	homozygous	0.719	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KLHL38-I334V	homozygous	0.734	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	KLHL38-H98R	homozygous	0.786	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.016 (benign)
0.5	TG-S734A	het unknown	0.698	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TG-M1028V	het unknown	0.696	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5	TG-D1312G	homozygous	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TG-D1838N	het unknown	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5	TG-W2501R	het unknown	0.566	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5	FAM83H-G902E	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.913 (probably damaging)
0.5	FAM83H-P498L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	FAM83H-Q201H	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GRHL2-K9R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CPS1-T344A	homozygous	0.583	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-L1093F	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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-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-Y2232C	het unknown	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 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-V3094I	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, 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	homozygous	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	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	NHLRC1-P111L	het unknown	0.250	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	CNGB3-T298P	homozygous	0.681	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CNGB3-C234W	homozygous	0.939	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-G43R	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-P574L	het unknown	0.358	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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	AKAP9-M463I	het unknown	0.376	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AKAP9-K1335KQ	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AKAP9-N2792S	het unknown	0.271	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COL1A2-P549A	homozygous	0.907	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ADRB2-G16R	het unknown	0.477	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	ADRB2-E27Q	het unknown	0.773	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	CYP3A7-R409T	homozygous	0.669	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CYP3A7-R161L	het unknown		Unknown	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	SLC26A2-T689S	het unknown	0.163	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ELN-G422S	homozygous	0.225	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TXNDC3-R43K	het unknown	0.291	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TXNDC3-C208R	homozygous	0.740	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DDC-M17V	homozygous	0.979	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EGFR-R521K	het unknown	0.259	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CASR-E1011Q	homozygous	0.916	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	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-D279N	het unknown	0.095	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	SHROOM1-P180L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.976 (probably damaging)
0.5	ATP6V0A4-V2A	homozygous	0.680	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	IL13-Q144R	homozygous	0.766	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC22A4-I306T	homozygous	0.588	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	SLC22A4-L503F	homozygous	0.142	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CDC25C-G297R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
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	ARAP3-T1428P	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	SLC25A2-Y44Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	COL6A3-A3012P	het unknown	0.843	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-D2831H	het unknown	0.047	Unknown benign	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ASB15-P57L	homozygous	0.747	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ASB15-D241Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ASB15-G357A	homozygous	0.765	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BEST3-Y43H	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging)
0.5	CTNS-T260I	homozygous	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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	FASN-V1483I	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	LAMA3-P1208T	het unknown	0.042	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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	DSC2-R798Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.433 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	DSG4-P523L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	DSG4-I644L	homozygous	0.954	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LEPR-K656N	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.5	CARD14-G144E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CARD14-Q145L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CARD14-Y205H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CARD14-R547S	het unknown	0.418	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CARD14-M752Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CARD14-R820W	het unknown	0.381	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.854 (probably damaging)
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	GAA-D91N	het unknown	0.008	Recessive benign	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GAA-H199R	homozygous	0.574	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GAA-R223H	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GAA-V780I	homozygous	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ENGASE-R321H	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.989 (probably damaging)
0.5	ENGASE-S596N	het unknown	0.080	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	MYO5B-L1055LL	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYO5B-T126A	homozygous	0.945	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ACOT11-R20H	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.938 (probably damaging)
0.5	ZSWIM4-M616V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.974 (probably damaging)
0.5	ZSWIM4-R694H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ZSWIM4-N710H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.007 (benign)
0.5	POMGNT1-M623V	homozygous	0.878	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	homozygous	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	FAM187B-W231*	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	FAM187B-V216I	het unknown	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	FAM187B-W188*	het unknown	0.277	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Nonsense mutation
0.5	FAM187B-C160R	homozygous	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAM187B-P3S	het unknown	0.154	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.076 (benign)
0.5	MAN2B1-R337Q	homozygous	0.237	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MAN2B1-T312I	homozygous	0.324	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MAN2B1-L278V	homozygous	0.236	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TSPAN16-S233Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	ZNF57-S56A	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.937 (probably damaging)
0.5	ZNF57-T223N	homozygous	0.448	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.654 (possibly damaging)
0.5	ZFR2-R521C	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	ZFR2-V183M	het unknown	0.230	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	ADAMTS10-H1101Q	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ADAMTS10-T134S	het unknown	0.910	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CPT2-V368I	homozygous	0.477	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MIF4GD-R128Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	MIF4GD-Q126Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DNAI2-A558T	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	UNC45B-I852N	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	SLFN14-Y912F	het unknown	0.279	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLFN14-Y770F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging)
0.5	SLFN14-K385E	het unknown	0.648	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLFN14-P356S	het unknown	0.650	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KRT10-H487Y	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT10-I101S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT10-GGG22Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DPAGT1-I393V	homozygous	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	EPS8L3-H294Y	het unknown	0.436	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EPS8L3-G164S	het unknown	0.369	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EPS8L3-M35I	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	OVGP1-E676Q	het unknown	0.652	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OVGP1-M479V	het unknown	0.148	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.963 (probably damaging)
0.5	OVGP1-M477T	het unknown	0.664	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	OVGP1-D332E	het unknown	0.075	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	CHRNE-G18V	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KIF1C-P700L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	PTPN22-W620R	homozygous	0.970	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RAI1-G90A	het unknown	0.281	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RAI1-P165T	het unknown	0.542	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	MYH8-W1692R	het unknown	0.481	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYH8-Q1601K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYH8-A636V	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	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	FNDC7-I146V	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	FNDC7-R224L	het unknown	0.564	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FNDC7-S309N	het unknown	0.185	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FNDC7-V353A	het unknown	0.600	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EPN3-R170H	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.933 (probably damaging)
0.5	EPN3-P544T	homozygous	0.364	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RNF43-L418M	het unknown	0.410	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.06 (benign)
0.5	RNF43-R343H	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	RNF43-R117H	het unknown	0.222	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.982 (probably damaging)
0.5	SEPT4-E311V	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.856 (probably damaging)
0.5	CACNG1-G196S	het unknown	0.074	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	SCN4A-N1376D	homozygous	0.604	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCN4A-S524G	homozygous	0.938	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DBT-N473S	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DBT-S384G	homozygous	0.869	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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: 3 Polyphen 2: 0.999 (probably damaging)
0.5	ADAM11-R141*	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	GOSR2-P3T	het unknown	0.021	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	GOSR2-R67K	het unknown	0.334	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CDC27-R631*	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	CDC27-A274D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CDC27-A273G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.257 (possibly damaging)
0.5	SCRN2-Q330R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	SCRN2-M323V	homozygous	0.988	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	COL11A1-S1547P	het unknown	0.752	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL11A1-K276N	het unknown	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GGN-Q647*	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Nonsense mutation
0.5	PRX-G1132R	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRX-I921M	het unknown	0.261	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRX-V882A	het unknown	0.493	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CSF2RB-P603T	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	FAM83F-G353S	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	FAM83F-R436G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.939 (probably damaging)
0.5	ST13-M297I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging)
0.5	ARHGEF19-P460L	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
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	PPIL2-P335T	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.936 (probably damaging)
0.5	CROCC-R7G	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CROCC-Q302E	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.956 (probably damaging)
0.5	CROCC-D463Y	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.987 (probably damaging)
0.5	CROCC-R691H	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.873 (probably damaging)
0.5	CROCC-T824M	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.351 (possibly damaging)
0.5	CROCC-R903S	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	FTCD-A438V	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-G136S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-R143H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-G704E	homozygous	0.855	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-V1038A	homozygous	0.847	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-Q2659H	het unknown	0.572	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5	PCNT-Q2792R	het unknown	0.732	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5	PCNT-A2903T	het unknown	0.056	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.085 (benign), Testable gene in GeneTests
0.5	SPATA21-K361KK	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SPATA21-P119L	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.996 (probably damaging)
0.5	PRODH-R521Q	homozygous	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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-P19Q	homozygous	0.562	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TUBGCP6-R1763W	het unknown	0.020	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	TUBGCP6-V1621L	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TUBGCP6-T1377A	het unknown	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	TUBGCP6-S1364C	het unknown	0.163	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.012 (benign)
0.5	TUBGCP6-L567S	homozygous	0.860	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.012 (benign)
0.5	SCO2-R20P	homozygous	0.690	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MTHFR-E429A	het unknown	0.243	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5	ATP7A-V767L	het unknown	0.332	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATP7A-E1350K	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	H2BFM-Q73*	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	TAS1R1-A110V	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.555 (possibly damaging)
0.5	TAS1R1-K347E	homozygous	0.910	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TAS1R1-R507Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.414 (possibly damaging)
0.5	ZBTB48-S675A	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.711 (possibly damaging)
0.5	PRAMEF2-R33S	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	PRAMEF2-V67G	het unknown	0.185	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PRAMEF2-T72R	het unknown	0.089	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.991 (probably damaging)
0.5	PRAMEF2-L73F	het unknown	0.093	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging)
0.5	RPGR-E963EEE	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	RPGR-W955G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	RPGR-A781T	homozygous	0.120	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKB-R27L	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKB-A214G	homozygous	0.815	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKB-A287V	homozygous	0.820	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKB-M562T	homozygous	0.856	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKB-K578E	homozygous	0.748	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKA-R83G	homozygous	0.653	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKA-A447T	homozygous	0.688	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ASMTL-H528R	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	ASMTL-V458M	het unknown	0.214	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.098 (benign)
0.5	ASMTL-G434S	het unknown	0.153	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ASMTL-Y364H	het unknown	0.092	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.014 (benign)
0.5	ASMTL-S228P	het unknown	0.092	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	DMD-R2937Q	homozygous	0.899	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMD-D882G	het unknown	0.727	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MAGEB6-R98H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.766 (possibly damaging)
0.5	MAGEB6-A100V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.012 (benign)
0.5	ATP13A2-VV467DL	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ATP13A2-T466Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
0.5	ITGB2-Q354H	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5	LILRB3-R465L	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	LILRB3-N252D	homozygous	0.963	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LILRB3-M115L	homozygous	0.950	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LILRB3-E90Q	het unknown	0.419	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LILRB3-M88I	het unknown	0.465	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.164 (benign)
0.5	KIR3DL3-N56K	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	KIR3DL3-R149S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	KIR3DL3-V168I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	KIR3DL3-N290T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	KIR3DL3-H321N	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NLRP7-A481T	het unknown	0.090	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	NLRP7-V319I	het unknown	0.306	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	NLRP2-T221M	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	NLRP2-T529A	het unknown	0.125	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NLRP2-A1052E	het unknown	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	FPR1-E346A	het unknown	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FPR1-N192K	het unknown	0.516	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FPR1-I11T	homozygous	0.831	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DHDH-S66N	het unknown	0.545	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DHDH-A173Shift	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DHDH-V247A	het unknown	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DHDH-E294Shift	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CYP2F1-Q266H	het unknown	0.267	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CYP2F1-P490L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	SIX5-V693M	het unknown	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-P635S	het unknown	0.533	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	SIX5-L556V	homozygous	0.833	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TMEM160-G120S	het unknown	0.068	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.866 (probably damaging)
0.5	BCAT2-T186R	het unknown	0.066	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.5	CCDC114-R46W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	ZNF749-T744Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ZNF749-I771R	homozygous	0.702	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK094748-Q220*	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	RHD-G263R	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.021 (benign)
0.5	RHD-K267M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	RHD-M379T	homozygous	0.956	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SALL4-L507R	homozygous	0.328	Dominant not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5	PCK1-V184L	homozygous	0.856	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-R3632Q	het unknown	0.080	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-A3168T	het unknown	0.119	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-S2995G	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-L2980H	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-G2225S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-V1967I	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-A1503V	het unknown	0.777	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-N765S	homozygous	0.896	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-M638V	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COL9A3-G17E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL9A3-PPG39Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL9A3-A435E	het unknown	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	ABHD12-A349T	het unknown	0.028	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.453 (possibly damaging)
0.5	CRNKL1-T158A	het unknown	0.499	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CRNKL1-Q111H	het unknown	0.709	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	CRNKL1-R52W	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.854 (probably damaging)
0.5	CRNKL1-F51L	het unknown	0.490	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.497 (possibly damaging)
0.5	CRNKL1-G35R	het unknown	0.297	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SDCBP2-R223C	het unknown	0.127	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (probably damaging)
0.5	SDCBP2-R191Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	SDCBP2-V182M	homozygous	0.352	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SIRPB1-A363P	het unknown	0.839	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SIRPB1-I229M	het unknown	0.848	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SIRPB1-R53H	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	SIRPB1-R23G	het unknown	0.242	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PANK2-G126A	homozygous	0.917	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RIN2-G29R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.963 (probably damaging)
0.5	FERMT1-R526K	het unknown	0.468	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	FERMT1-R255C	het unknown	0.069	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5	FERMT1-I160T	het unknown	0.106	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5	KRT14-A94T	homozygous	0.269	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KRT14-C63Y	homozygous	0.976	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OCA2-R305W	het unknown	0.094	Unknown benign	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	ABCC4-K304N	het unknown	0.129	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ABCC4-G187W	het unknown	0.070	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	USH2A-M3868V	het unknown	0.131	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-E3411A	homozygous	0.638	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-I2169T	het unknown	0.575	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-I2106T	homozygous	0.629	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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: 3 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: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5	USH2A-D644V	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5	USH2A-A125T	het unknown	0.777	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A1-T555P	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A1-V7L	het unknown	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CACNA1S-R1539C	het unknown	0.073	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CLN5-R2C	het unknown	0.158	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CLN5-N242K	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATP7B-V1140A	homozygous	0.495	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATP7B-R952K	homozygous	0.481	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATP7B-K832R	homozygous	0.455	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	ATP7B-V456L	homozygous	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ATP7B-S406A	homozygous	0.355	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	WDR66-E65EEKEEE	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	WDR66-V307I	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
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-A694T	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LBR-S154N	homozygous	0.713	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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-F1070S	het unknown	0.527	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	BRCA2-N372H	het unknown	0.230	Recessive pathogenic	Low clinical importance, uncertain	This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.
0.5	BRCA2-V2466A	homozygous	0.954	Dominant benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-S1195P	homozygous	0.703	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-R1055C	homozygous	0.631	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ASPM-Y2494H	homozygous	0.992	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ASPM-V1321I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HSD3B1-R71I	het unknown	0.007	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging)
0.5	TSHR-P52T	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TSHR-E727D	homozygous	0.895	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	GALC-T641A	homozygous	0.892	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GALC-I562T	homozygous	0.446	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GALC-R184C	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	SERPINA12-R211*	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
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	ACOT4-R57C	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.346 (possibly damaging)
0.5	ACOT4-A187D	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	ACOT4-AY189QS	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ZFYVE26-R2411H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ZFYVE26-N1891S	homozygous	0.900	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: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5	ZFYVE26-T898S	het unknown	0.046	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5	ACIN1-S647SRS	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ACIN1-S478F	het unknown	0.057	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.981 (probably damaging)
0.5	ACIN1-S467P	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.96 (probably damaging)
0.5	ACIN1-A447P	homozygous	0.997	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ACIN1-I311M	het unknown	0.505	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ACIN1-E281Del	het unknown	0.061	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PCK2-Q121P	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CFHR2-C72Y	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.968 (probably damaging)
0.5	HMCN1-I2418T	homozygous	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5	HMCN1-E2893G	homozygous	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), 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	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-H3309R	homozygous	0.647	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	SYNE2-L5186M	homozygous	0.708	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HPD-T33A	homozygous	0.884	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HNF1A-S574G	homozygous	0.976	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TPO-A373S	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	TPO-S398T	homozygous	0.684	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5	TPO-T725P	het unknown	0.524	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TPO-V847A	het unknown	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	SLCO1B3-S112A	homozygous	0.646	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLCO1B3-M233I	homozygous	0.659	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.131 (benign)
0.5	SLCO1B1-V174A	het unknown	0.097	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LRRK2-R50H	homozygous	0.927	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRK2-M2397T	homozygous	0.526	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GYS2-M363V	homozygous	0.729	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	RAD51AP2-G1037D	het unknown	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.979 (probably damaging)
0.5	RAD51AP2-R976H	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.994 (probably damaging)
0.5	RAD51AP2-V876L	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.242 (possibly damaging)
0.5	RAD51AP2-S760I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.048 (benign)
0.5	RAD51AP2-C533Y	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	RAD51AP2-T531I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.005 (benign)
0.5	RAD51AP2-Q490H	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.955 (probably damaging)
0.5	RAD51AP2-T488I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.375 (possibly damaging)
0.5	ANO2-S500A	het unknown	0.143	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ANO2-P143S	het unknown	0.046	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	OTOF-R82C	homozygous	0.229	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	HADHB-T2TT	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TIRAP-S180L	het unknown	0.073	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	WNK1-T1056P	homozygous	0.838	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-C1506S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SNX19-L878R	homozygous	0.808	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SNX19-N753S	homozygous	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SNX19-L618F	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SNX19-V361L	homozygous	0.671	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	VDR-M1T	het unknown	0.687	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5	COL2A1-V1331I	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MVK-S52N	het unknown	0.100	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CCDC63-Y303F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.996 (probably damaging)
0.5	ATXN2-L107V	homozygous	0.311	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, 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	OAS3-R18K	homozygous	0.662	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OAS3-R65W	het unknown	0.005	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	MMAB-M239K	homozygous	0.469	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MMAB-R19Q	het unknown	0.283	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	IRF2BP2-A254V	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	IRF2BP2-P118A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	KRT83-H493Y	homozygous	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT83-I279M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT83-R149C	het unknown	0.141	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MTR-D919G	het unknown	0.262	Complex/Other protective	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	EDARADD-M9I	homozygous	0.726	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BBS10-P539L	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview
0.5	RGS12-M277L	het unknown	0.044	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.073 (benign)
0.5	RGS12-R633Q	het unknown	0.038	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.913 (probably damaging)
0.5	MLH3-P844L	het unknown	0.298	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MLH3-N826D	homozygous	0.981	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CEP152-L914V	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SALL1-V1275I	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LAMC2-D247E	het unknown	0.059	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.328 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	RHBG-V143D	het unknown	0.236	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RHBG-G315R	homozygous	0.550	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RHBG-P424Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	RHBG-H428R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	BBS4-I354T	homozygous	0.399	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HEXA-I436V	homozygous	0.748	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEDD4-N626S	het unknown	0.702	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NEDD4-R607Q	het unknown	0.701	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NEDD4-N407H	het unknown	0.267	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NEDD4-M33V	het unknown	0.037	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	NR2E3-T318Shift	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift, Testable gene in GeneTests
0.5	IL6R-D358A	homozygous	0.266	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.911 (probably damaging)
0.5	BBS2-I123V	homozygous	0.251	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BBS2-S70N	homozygous	0.992	Unknown benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RPTN-D455H	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	RPTN-K163R	het unknown	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	RPTN-S161P	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.743 (possibly damaging)
0.5	RPTN-G159S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	KIAA0556-A1267T	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KIAA0556-E1426K	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	TELO2-E7R	het unknown	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TELO2-Q146R	homozygous	0.447	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.129 (benign)
0.5	TELO2-S347T	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.968 (probably damaging)
0.5	GFER-F166L	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PKD1-A4059V	het unknown	0.048	Unknown benign	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.779 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	PKD1-I4045V	het unknown	0.250	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-A3512V	het unknown	0.125	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	PKD1-E2419D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ZBTB7B-P190S	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.932 (probably damaging)
0.5	TPSAB1-P111Shift	het unknown	0.015	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	MRPL28-H27Y	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	AQP8-A212T	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.313 (possibly damaging)
0.5	AQP8-A260P	homozygous	0.425	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	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.
0.5	ABCC6-M848V	homozygous	0.954	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ABCC6-H632Q	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ABCC6-V614A	het unknown	0.354	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CACNA1H-M313V	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.006 (benign)
0.5	CACNA1H-R2060H	het unknown	0.040	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	CACNA1H-R2077H	het unknown	0.738	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	BNIPL-R189H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	LCAT-S232T	het unknown	0.014	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
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	THBS1-N700S	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	LRRC50-Q307E	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5	LRRC50-K393R	homozygous	0.321	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	LRRC50-L659V	het unknown	0.112	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	TRPM1-P1379T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5	TRPM1-S32N	homozygous	0.786	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TRPM1-M1T	homozygous	0.898	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ANXA9-M1V	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	ANXA9-D166G	het unknown	0.056	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.992 (probably damaging)
0.5	SEC22B-D70Y	het unknown	0.003	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SEC22B-T81K	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SEC22B-R107Q	het unknown	0.002	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SEC22B-C129R	het unknown	0.085	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SEC22B-R131*	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	SEC22B-H189R	het unknown	0.508	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PLA2G4D-R807Q	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.976 (probably damaging)
0.5	PLA2G4D-R783Q	het unknown	0.054	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.01 (benign)
0.5	PLA2G4D-A649G	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PLA2G4D-K639Q	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PLA2G4D-Y627C	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PLA2G4D-R601H	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	PLA2G4D-R573W	het unknown	0.054	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PLA2G4D-S434T	het unknown	0.266	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.064 (benign)
0.5	PLA2G4D-P275R	het unknown	0.250	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PLA2G4D-P10T	het unknown	0.080	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.11 (benign)
0.5	STRC-Q84R	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FHOD1-P533L	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (probably damaging)
0.5	TJP1-I790V	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.984 (probably damaging)
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	ZDHHC1-R124Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.905 (probably damaging)
0.5	RANBP10-A570Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DUOX2-S1067L	homozygous	0.662	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DUOX2-P138L	homozygous	0.926	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NCF2-K181R	homozygous	0.471	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.375	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
0.375	TMEM43-M179T	het unknown	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	TMEM43-R312W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	MASTL-V610I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.375	MASTL-P620A	het unknown	0.125	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.375	FUT6-R303G	het unknown	0.107	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.725 (possibly damaging)
0.375	FUT6-P124S	het unknown	0.496	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.614 (possibly damaging)
0.375	FLG-R3738H	het unknown	0.134	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375	FLG-V3179G	het unknown	0.339	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375	FLG-E2652D	het unknown	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375	FLG-G2545R	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.375	FLG-H2507Q	het unknown	0.318	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.375	FLG-L2481S	het unknown	0.222	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.375	FLG-K2444E	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.375	FLG-E2398Q	het unknown	0.144	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375	FLG-S2366T	het unknown	0.125	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375	FLG-H2209R	het unknown	0.119	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-Y2194H	het unknown	0.522	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-K2192Q	het unknown	0.235	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-Y2119H	het unknown	0.119	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-A2108V	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-H1961Q	het unknown	0.418	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-R1699C	het unknown	0.428	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-R1684H	het unknown	0.190	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-R1560C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-S1482Y	het unknown	0.243	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-R1376G	het unknown	0.170	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-R1360H	het unknown	0.164	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-A1167G	het unknown	0.425	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-E755K	het unknown	0.155	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FLG-P478S	het unknown	0.318	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375	FLG-T454A	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
0.375	FLG-G444R	het unknown	0.319	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375	FLG-G332V	het unknown	0.227	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375	PLD1-A622S	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.375	PLD1-G237C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	EIF4G1-T161A	homozygous	0.982	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.075 (benign)
0.25	EIF4G1-M432V	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	EIF4G1-S988Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	FANCD2-P714L	het unknown	0.246	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NOTCH2-C19W	het unknown	0.208	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MASP2-D371Y	homozygous	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MASP2-C156Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SLC3A1-M618I	het unknown	0.406	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	THADA-C1605Y	het unknown	0.137	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.387 (possibly damaging)
0.25	THADA-L1443F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.729 (possibly damaging)
0.25	THADA-T1385S	het unknown	0.180	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	THADA-T1187A	het unknown	0.149	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.384 (possibly damaging)
0.25	CCDC50-I258N	het unknown	0.536	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CCDC50-K303R	het unknown	0.524	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CCDC50-M332T	het unknown	0.661	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CCDC50-R441Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TNFRSF1B-M196R	het unknown	0.206	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.986 (probably damaging)
0.25	NGF-A35V	het unknown	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25	GBA-K144R	het unknown	0.619	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GBA-R140W	het unknown	0.357	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MCEE-A76V	het unknown	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PHF7-E326Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	PHF7-E327R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	HHLA2-I30T	het unknown	0.579	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	HHLA2-W290*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	HHLA2-S364R	het unknown	0.112	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.022 (benign)
0.25	COL9A2-Q326R	het unknown	0.403	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFH-V62I	het unknown	0.495	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFH-H402Y	het unknown	0.818	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFH-E936D	het unknown	0.209	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	LNP1-S61Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	LNP1-CH64RL	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CYP4B1-R173W	het unknown	0.184	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NEUROD1-T45A	het unknown	0.754	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	STIL-H985R	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	STIL-A86V	het unknown	0.633	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LRP8-R952Q	het unknown	0.130	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	LRP8-D46E	het unknown	0.621	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ITGA6-A380T	het unknown	0.253	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CPOX-V294I	het unknown	0.103	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25	IQCF3-G46E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	IQCF3-V47Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	LDLRAP1-S202P	het unknown	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25	MLH1-I219V	het unknown	0.124	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	EPHX1-H139R	het unknown	0.210	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CDA-K27Q	het unknown	0.190	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	ABCA4-H423R	het unknown	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CTH-S403I	het unknown	0.175	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	AOX1-N1135S	het unknown	0.195	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	IQCB1-C434Y	het unknown	0.198	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25	CTLA4-T17A	het unknown	0.463	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	MERTK-R466K	het unknown	0.550	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MERTK-I518V	het unknown	0.550	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MERTK-V870I	het unknown	0.089	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
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	GLI2-D1306N	het unknown	0.595	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PCDH15-D440A	het unknown	0.343	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ROBO4-R184Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ROBO4-R64C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ROBO4-Q54R	homozygous	0.484	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	LITAF-I92V	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SH2B1-T484A	het unknown	0.217	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ABAT-Q56R	het unknown	0.485	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CLCN7-V418M	het unknown	0.103	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ADAMTSL3-H146R	het unknown	0.706	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.04 (benign)
0.25	ADAMTSL3-L290V	homozygous	0.833	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ADAMTSL3-V661L	het unknown	0.711	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ADAMTSL3-G713R	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	ADAMTSL3-L869F	homozygous	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.148 (benign)
0.25	ADAMTSL3-E893K	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.061 (benign)
0.25	SLC28A1-D521N	het unknown	0.226	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PIGQ-R27Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PIGQ-D4Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CD19-L174V	het unknown	0.876	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CETP-V422I	het unknown	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MPDU1-A229T	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LRRC48-R191W	het unknown	0.578	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	LRRC48-R444Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	FANCA-T266A	het unknown	0.708	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	GPR56-S281R	het unknown	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DHODH-K7Q	het unknown	0.560	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.004 (benign)
0.25	TAF1C-Q440Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	TAF1C-C24Y	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	C15orf40-L132Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	C15orf40-C25R	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C15orf40-L11F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLC28A2-P22L	het unknown	0.248	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SLC28A2-S75R	het unknown	0.253	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	KRT6C-R182Q	het unknown	0.281	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	C12orf63-L593P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C12orf63-E666K	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C12orf63-L734Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	C12orf63-S790N	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	KRT6B-I365V	het unknown	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	C12orf60-K65R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C12orf60-N103K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C12orf60-M184Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CC2D2A-E376A	het unknown	0.110	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	VWF-T1381A	het unknown	0.754	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	VWF-Q852R	het unknown	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	VWF-H484R	het unknown	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	VWF-N318K	het unknown	0.230	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.25	CDKN1B-V109G	het unknown	0.400	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25	SGCG-N287S	het unknown	0.843	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	B3GALTL-E370K	het unknown	0.612	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25	PAX9-A240P	het unknown	0.323	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MTHFD1-K134R	homozygous	0.846	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MTHFD1-R653Q	het unknown	0.320	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.008 (benign)
0.25	COCH-T352S	het unknown	0.382	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	RPGRIP1-K192E	het unknown	0.446	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RPGRIP1-A547S	het unknown	0.164	Complex/Other benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25	RPGRIP1-E1033Q	het unknown	0.256	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ITGBL1-E416Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ITGBL1-S417L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-K6544E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-R6075C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-L6011P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-F5916L	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-N5750S	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-R5644T	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-S4943P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-V3805I	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-T3015I	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-T2812P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-G2410R	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-E2111Q	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-A1822P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-C1275*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	C13orf40-P773L	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-I96V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-C82S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_028064-T138TRAHT	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_028064-H49Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_028064-C18W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_028064-A9Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	MYO15A-A595T	het unknown	0.557	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MYO15A-C1977R	homozygous	0.746	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MYO15A-Y2682F	het unknown	0.215	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	KRTAP3-2-R27C	het unknown	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.25	SLC19A1-H27R	het unknown	0.447	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.25	COL6A1-S116N	het unknown	0.056	Dominant benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests with associated GeneReview
0.25	COL6A1-D223N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CBR3-C4Y	het unknown	0.391	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.25	CBR3-V244M	het unknown	0.398	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.014 (benign)
0.25	KCNE1-S38G	het unknown	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	FUT2-W154*	het unknown	0.364	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Nonsense mutation
0.25	FUT2-G258S	het unknown	0.390	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.954 (probably damaging)
0.25	MMP9-Q279R	het unknown	0.477	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MMP9-R574P	homozygous	0.813	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MMP9-R668Q	het unknown	0.187	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	POM121L4P-K136R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	POM121L4P-R445*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	TCF20-M405V	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.963 (probably damaging)
0.25	ATRX-Q929E	het unknown	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	XIAP-Q423P	het unknown	0.277	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.25	CACNA1F-R1930H	het unknown	0.104	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	WDR13-T139Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	WDR13-H325R	homozygous	0.997	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ARSA-T391S	het unknown	0.423	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SHANK3-I245T	het unknown	0.357	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	UBA1-R447H	het unknown	0.199	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CLASRP-K174E	homozygous	0.997	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CLASRP-S288Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ZNF224-M118V	het unknown	0.793	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ZNF224-H162L	het unknown	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging)
0.25	ZNF224-K640E	het unknown	0.593	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	AXIN2-P50S	het unknown	0.264	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	BRIP1-S919P	het unknown	0.652	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TBX4-G6A	het unknown	0.219	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.25	ITGA2B-I874S	het unknown	0.255	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ITGB3-L59P	het unknown	0.109	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25	COL1A1-T1075A	het unknown	0.961	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TSEN54-E4D	het unknown	0.675	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TSEN54-K347N	het unknown	0.430	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	TSEN54-A437V	het unknown	0.515	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	SGSH-R456H	het unknown	0.302	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ICAM1-K469E	het unknown	0.297	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	EMR2-L565F	homozygous	0.826	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	EMR2-Q516Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	STXBP2-I526V	het unknown	0.725	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NDUFS7-P23L	het unknown	0.437	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	NPC1-M642I	het unknown	0.863	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	LMAN1-M410L	het unknown	0.105	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25	HYLS1-C31R	het unknown	0.322	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25	CNTNAP2-C9S	het unknown	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.134 (benign), Testable gene in GeneTests
0.25	CNTNAP2-G285A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	LCA5-L24S	het unknown	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	FIG4-V654A	het unknown	0.467	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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	COL9A1-S339P	het unknown	0.507	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TDRD6-T398A	homozygous	0.885	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TDRD6-Q1014E	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.952 (probably damaging)
0.25	TDRD6-R1457Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CYP21A2-R103K	het unknown	0.216	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQA1-Q57E	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQA1-M230V	het unknown	0.782	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PEX6-P939Q	het unknown	0.339	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ENPP1-A124Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
0.25	ENPP1-K173Q	het unknown	0.404	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.15 (benign), Testable gene in GeneTests
0.25	PLG-D472N	het unknown	0.151	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MLL5-P75Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	MLL5-S1532N	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.33 (possibly damaging)
0.25	ALG8-N222S	het unknown	0.120	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	GLI3-P998L	het unknown	0.444	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GLI3-T183A	het unknown	0.663	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	BBS9-A455T	het unknown	0.135	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PARK2-V380L	het unknown	0.169	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DACT2-T541P	homozygous	0.974	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DACT2-F382Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	DACT2-E351G	homozygous	0.374	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-D1016N	het unknown	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SDK1-S1223*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	SDK1-H1641R	homozygous	0.818	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.25	MICA-L145V	het unknown	0.191	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-G198S	het unknown	0.337	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 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-R274Q	het unknown	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-G318Shift	het unknown	0.163	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.25	TRIM15-S324N	het unknown	0.155	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	AMACR-E277K	het unknown	0.724	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	IL7R-I66T	het unknown	0.597	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	IL7R-V138I	het unknown	0.689	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	FGB-R478K	het unknown	0.146	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	NR3C2-V180I	het unknown	0.883	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	FAM114A1-G84R	homozygous	0.200	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.859 (probably damaging)
0.25	FAM114A1-L116P	homozygous	0.199	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FAM114A1-V443I	het unknown	0.100	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.02 (benign)
0.25	FAM114A1-Y537Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	UGT2B7-Y268H	het unknown	0.727	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ADH1B-H48R	het unknown	0.678	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	GHR-I544L	het unknown	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25	HSD17B4-R106H	het unknown	0.331	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25	HSD17B4-I559V	het unknown	0.392	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25	F13A1-P565L	het unknown	0.213	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	GABBR1-F843Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	GABBR1-A20V	het unknown	0.040	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	GRM6-Q59P	het unknown	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	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	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	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	CFTR-V470M	het unknown	0.621	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SFTPC-T138N	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SFTPC-S186N	het unknown	0.222	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SBF2-Q1216E	het unknown	0.118	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25	USH1C-E819D	het unknown	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CR591411-R134C	homozygous	0.580	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CR591411-P93Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	MUC5AC-R79W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MUC5AC-V186Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	MUC5AC-V497A	homozygous	0.977	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-F3655S	homozygous	0.701	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-T4564R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CALHM1-L86P	het unknown	1.000	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ADRB1-G389R	het unknown	0.705	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ACADSB-R13K	het unknown	0.171	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25	RAG1-H249R	het unknown	0.615	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	RAG1-K820R	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.25	SLC35C1-I227V	het unknown	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	IGHMBP2-L201S	het unknown	0.650	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	IGHMBP2-I275V	het unknown	0.138	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	IGHMBP2-R694W	het unknown	0.163	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MYO7A-L16S	het unknown	0.550	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MYO7A-S1666C	het unknown	0.610	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MYO7A-L1954I	het unknown	0.552	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALDH3B2-H361R	het unknown	0.881	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ALDH3B2-R276W	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ALDH3B2-S220G	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ALDH3B2-H203R	homozygous	0.922	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ALDH3B2-S52N	het unknown	0.880	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ALDH3B2-P5Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SPTBN2-G1046C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SPTBN2-S825G	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SERPING1-V480M	het unknown	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25	SLC15A3-LP519FT	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLC15A3-L508Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	AX747192-F254Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	AX747192-N149Shift	het unknown	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
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	LIPA-T16P	het unknown	0.251	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25	BAAT-R201P	het unknown	0.160	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	BAAT-R20Q	het unknown	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests
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	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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	IKBKAP-I816L	het unknown	0.316	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	IKBKAP-G765E	het unknown	0.315	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ROR2-V819I	het unknown	0.798	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ROR2-T245A	het unknown	0.619	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PRUNE2-LQAVT2714Del	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PRUNE2-S2618G	homozygous	0.772	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRUNE2-S2511P	homozygous	0.773	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRUNE2-L2365F	homozygous	0.308	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRUNE2-A2184T	homozygous	0.786	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRUNE2-Q2115E	homozygous	0.268	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRUNE2-T1972A	homozygous	0.776	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRUNE2-C1506R	homozygous	0.775	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRUNE2-M745I	homozygous	0.254	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRUNE2-T215Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CHRNA2-T125A	het unknown	0.644	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RP1-N985Y	het unknown	0.206	Unknown benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25	RP1-A1670T	het unknown	0.265	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	RP1-S1691P	het unknown	0.295	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	RP1-C2033Y	het unknown	0.186	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25	TMEM67-I604V	het unknown	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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: 3 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: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25	ANXA11-R230C	het unknown	0.382	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (probably damaging)
0.25	BMPR1A-P2T	het unknown	0.549	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SEC16A-G1919Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SEC16A-R1039C	homozygous	0.113	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ERCC6-G399D	het unknown	0.246	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RET-G691S	het unknown	0.167	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25	C10orf113-D100H	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C10orf113-R62G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C10orf113-S22Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	PTF1A-S263P	het unknown	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.125	CYP4F2-V433M	het unknown	0.216	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.309 (possibly damaging)
0.125	CYP4F2-W12G	het unknown	0.058	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0	CD40LG-G219R	het unknown	0.022	Recessive pathogenic	Low clinical importance, uncertain	Study of a single family with X-linked immunodeficiency implicated this variant as causal when combined with XIAP-G466X. The authors' hypothesis is that either variant alone has much less effect, if any. Because 2% of males carry this variant, it is very unlikely that the variant alone has any severe effect.
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	MBL2-R52C	het unknown	0.035	Recessive pathogenic	Low clinical importance, likely	This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,744,492,994 bases (96.9% of callable positions, 90.8% of total positions)

Coding region coverage: 32,861,153 bases (98.9% of all genes, 99.4% of genes with clinical testing available)

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

hu025CEA - GET-Evidence variant report

Variant report for hu025CEA

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