Variant report for hu8229AE

Data source: CGI sample GS01173-DNA_A07 from PGP sample 96240009
This report: evidence.pgp-hms.org/genomes?e27a808425ee02da4d9482c48c8764c1ffae4cda
Person ID: hu8229AE
public profile: my.pgp-hms.org/profile/hu8229AE
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	C3-R102G	Moderate	Likely	Likely pathogenic Complex/Other, Heterozygous	0.152073	This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.	1
2	SERPINA1-E288V	Low	Well-established	Well-established pathogenic Recessive, Carrier (Heterozygous)	0.0304889	This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.	1
3	MTRR-I49M	Low	Likely	Likely pathogenic Recessive, Homozygous	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
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	RNASEL-R462Q	Low	Uncertain	Uncertain pathogenic Complex/Other, Heterozygous	0.278026	Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.	1
6	LRP5-A1330V	Low	Uncertain	Uncertain pathogenic Complex/Other, Heterozygous	0.110367	In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density.	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	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
9	SP110-L425S	Low	Uncertain	Uncertain pathogenic Unknown, Heterozygous	0.863357	This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.	1
10	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
11	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
12	ERCC6-R1213G	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.196877	When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study.	1
13	CLEC7A-Y238X	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.0632088	This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.	1
14	rs1544410	Low	Uncertain	Uncertain pharmacogenetic Unknown, Heterozygous	0.351562	rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon.	1
15	CASP10-V410I	Low	Likely	Likely protective Dominant, Homozygous	0.0474066	Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).	1
16	NPC1-H215R	Low	Likely	Likely protective Complex/Other, Heterozygous	0.295687	This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).	1
17	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
18	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
19	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
20	LIG4-A3V	Low	Uncertain	Uncertain protective Dominant, Heterozygous	0.035843	One report has associated this with a decreased risk of multiple myeloma.	1
21	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
22	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
23	TAS2R38-I296V	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.463376	This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.	1
24	UNC13D-R928C	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0157473	This variant was seen, along with other variants, in two cases of haemophagocytic lymphohistiocytosis — however, the variant frequency in these cases does not significantly differ from later reported frequency of the variant in exome sequencing data (1.4%). If the variant were causal it would be significantly enriched in cases; instead, it is likely a polymorphism unrelated to the disease in these patients.	1
25	TYR-S192Y	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.270682	This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).	1
26	TPCN2-G734E	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.286166	Pigmentation allele.	1
27	TAS2R38-A49P	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.431121	This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.	1
28	PCSK9-G670E	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.888269	This variant is likely benign.	1
29	GUCY2D-A52S	Low	Uncertain	Uncertain benign Recessive, Carrier (Heterozygous)	0.21016	One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.	1
30	FAH-R341W	Low	Uncertain	Uncertain benign Recessive, Carrier (Heterozygous)	0.0172895	This variant shows pseudodeficiency for production of FAH protein which is connected with hereditary tyrosinemia type I. Pseudodeficiency was confirmed with site-directed mutagenesis and expression in a rabbit reticulocyte lysate system. The allelic frequency in 516 Norwegian controls was 0.022.	1
31	CBLC-H405Y	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0374605	Probably benign.	1
32	APOB-Y1422C	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.999628	This position is almost certainly an error in the HG18 reference sequence.	1
33	MAPT-R370W	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.155549	Probably benign.	1
34	NTRK1-H604Y	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0431307	Various databases and papers treat this variant as a non-pathogenic polymorphism, although it is fairly uncommon and is computational methods predict it to be damaging.	1
35	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
36	PTCH1-P1315L	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.29631	Common polymorphism, presumed benign.	1
37	PKP2-L366P	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.221231	This variant is a benign polymorphism.	1
38	NTRK1-G613V	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0429448	Also called G607V, this variant has been reported as a nonpathogenic polymorphism.	1
39	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

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

Exome coverage: 32819928 / 33212919 = 98.82%

Row number	Gene	Chromosome	Coverage	Missing	Length	Missing regions
1	AGRN	1	0.95063538611926	303	6138	955553-955599, 955606-955657, 955667, 955674, 955697, 955700, 976210-976216, 976251-976260, 977056-977082, 977517-977532, 981795-981796, 981806, 981861, 981977-981984, 981987-981988, 983425, 983604-983721, 983734, 983737-983740, 983744-983745
2	GABRD	1	0.95069904341428	67	1359	1950864-1950930
3	NPHP4	1	0.99976640971736	1	4281	5935151
4	ESPN	1	0.94970760233918	129	2565	6500416, 6500482-6500488, 6500717-6500738, 6500756-6500764, 6500782, 6500839-6500868, 6501029-6501035, 6505844-6505890, 6508822-6508826
5	PLEKHG5	1	0.94951395421762	161	3189	6534125-6534164, 6534173-6534195, 6534217-6534224, 6534511-6534594, 6534608-6534609, 6557380-6557383
6	KIF1B	1	0.99153020892151	45	5313	10356974-10357003, 10425549-10425559, 10425584-10425587
7	TARDBP	1	0.95100401606426	61	1245	11080523-11080534, 11082322-11082369, 11082530
8	CLCNKA	1	0.98982558139535	21	2064	16358268-16358274, 16360134-16360147
9	CLCNKB	1	0.98643410852713	28	2064	16373044-16373050, 16378881-16378887, 16383392-16383405
10	ATP13A2	1	0.99802427321479	7	3543	17313607, 17322608, 17322619-17322623
11	PINK1	1	0.99656357388316	6	1746	20960307-20960310, 20960317, 20960322
12	HSPG2	1	0.99461141469338	71	13176	22190597-22190604, 22263648-22263710
13	WNT4	1	0.92708333333333	77	1056	22469339-22469415
14	GALE	1	0.99713467048711	3	1047	24123033-24123035
15	SEPN1	1	0.89028776978417	183	1668	26126722-26126904
16	KCNQ4	1	0.99712643678161	6	2088	41249776, 41249993, 41284245, 41284259, 41284303-41284304
17	CLDN19	1	0.97481481481481	17	675	43201567-43201580, 43201589-43201591
18	MPL	1	0.99947589098532	1	1908	43818356
19	STIL	1	0.99689681923972	12	3867	47755246-47755257
20	ORC1	1	0.99883990719258	3	2586	52851553-52851555
21	DHCR24	1	0.99806576402321	3	1551	55352600-55352602
22	PCSK9	1	0.999037999038	2	2079	55505551-55505552
23	LEPR	1	0.99799885648942	7	3498	66083728, 66085701-66085706
24	DPYD	1	0.98960363872645	32	3078	97847949-97847951, 97847955-97847965, 97847975-97847992
25	AGL	1	0.99956512285279	2	4599	100340776-100340777
26	COL11A1	1	0.978009895547	120	5457	103364222-103364282, 103364288-103364292, 103364315-103364329, 103364497-103364498, 103364540-103364545, 103381204-103381211, 103412455-103412456, 103412462, 103435811-103435823, 103435828, 103470189, 103470192, 103471841, 103471861, 103471864, 103548485
27	GSTM1	1	0.41552511415525	384	657	110230496-110230531, 110230792-110230815, 110230839, 110230841, 110230854, 110230858, 110231295-110231342, 110231688-110231694, 110231714, 110231721, 110231724-110231729, 110231742-110231744, 110231847-110231947, 110232893-110232898, 110232905, 110232928, 110232934-110232943, 110232953-110232988, 110233076-110233174
28	NOTCH2	1	0.98692017259978	97	7416	120458189-120458191, 120539668, 120539687, 120539691, 120539711, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120611960, 120611964, 120612003-120612004, 120612006, 120612013-120612014
29	FLG	1	0.99696372886919	37	12186	152276487-152276493, 152276668-152276674, 152277032-152277038, 152277498, 152278434, 152280570-152280576, 152281350-152281356
30	LMNA	1	0.97354497354497	15	567	156105077-156105091
31	LMNA	1	0.99248120300752	15	1995	156105077-156105091
32	NTRK1	1	0.99539941447093	11	2391	156830727-156830729, 156830735, 156830751-156830753, 156830779, 156830782, 156830787, 156843440
33	MPZ	1	0.998712998713	1	777	161276186
34	F5	1	0.99700374531835	20	6675	169510325-169510343, 169510475
35	DARS2	1	0.9984520123839	3	1938	173802577, 173802580-173802581
36	NPHS2	1	0.99913194444444	1	1152	179544863
37	LAMC2	1	0.99720826353992	10	3582	183155493-183155501, 183155518
38	HMCN1	1	0.9995268511947	8	16908	186031081-186031088
39	PDC	1	0.9919028340081	6	741	186418584-186418589
40	CFH	1	0.98593073593074	52	3696	196658731, 196658735, 196682887-196682890, 196706732-196706733, 196706751, 196716353-196716395
41	CFHR1	1	0.99194360523666	8	993	196797354-196797360, 196801078
42	CFHR5	1	0.99707602339181	5	1710	196953091-196953094, 196967258
43	ASPM	1	0.99808318957255	20	10434	197069698, 197069709-197069717, 197069725-197069729, 197069767-197069769, 197113167, 197113186
44	CRB1	1	0.99928926794598	3	4221	197396963-197396965
45	CD46	1	0.98416666666667	19	1200	207940409-207940427
46	USH2A	1	0.99935934396822	10	15609	215916553, 215916563, 215931937-215931938, 216251510, 216496823, 216496828, 216496925-216496927
47	GJC2	1	0.84469696969697	205	1320	228345514-228345521, 228345571-228345588, 228345625-228345631, 228345681-228345685, 228345689, 228345752-228345758, 228345784-228345809, 228346030-228346070, 228346095-228346109, 228346336-228346404, 228346449-228346451, 228346475, 228346593, 228346598, 228346604, 228346632
48	ACTA1	1	0.99911816578483	1	1134	229567925
49	LYST	1	0.9973698053656	30	11406	235875446, 235875465-235875466, 235875474, 235875495, 235907365-235907366, 235929577, 235938385-235938386, 235944237-235944239, 235944265, 235944268, 235944329, 235944339, 235950500-235950501, 235950672-235950673, 235967839, 235967842-235967844, 235972224, 235972391-235972394
50	MTR	1	0.99578725645076	16	3798	237013668, 237013724, 237013807-237013818, 237024425-237024426
51	RYR2	1	0.99738325281804	39	14904	237656317-237656318, 237656323, 237821244-237821271, 237821301, 237824110-237824111, 237881767, 237881770, 237881776-237881778
52	NET1	10	0.99609156895589	7	1791	5454768-5454774
53	GATA3	10	0.99475655430712	7	1335	8100742-8100748
54	DCLRE1C	10	0.996632996633	7	2079	14981847-14981853
55	CUBN	10	0.99668874172185	36	10872	16878294-16878302, 16949565-16949579, 17085891, 17085973-17085976, 17142033-17142038, 17142048
56	PTF1A	10	0.9918946301925	8	987	23481870-23481875, 23481912-23481913
57	PDSS1	10	0.99919871794872	1	1248	26994267
58	RET	10	0.99013452914798	33	3345	43572707-43572717, 43572731-43572732, 43572741-43572746, 43572749-43572751, 43572762-43572770, 43572778-43572779
59	ERCC6	10	0.99977688531905	1	4482	50740819
60	CHAT	10	0.92790387182911	162	2247	50822266-50822427
61	PCDH15	10	0.99643402954661	21	5889	55587206, 55587209-55587220, 55587231-55587236, 55587243, 55719508
62	CDH23	10	0.99860779634049	14	10056	73206075, 73462364-73462365, 73567279-73567281, 73574756-73574763
63	PSAP	10	0.99936507936508	1	1575	73579579
64	MAT1A	10	0.99158249158249	10	1188	82045284-82045293
65	LDB3	10	0.99862637362637	3	2184	88476088, 88476091, 88476206
66	BMPR1A	10	0.99937460913071	1	1599	88683146
67	GLUD1	10	0.99582587954681	7	1677	88836362-88836368
68	LIPA	10	0.99916666666667	1	1200	90988036
69	HPS1	10	0.98385565052232	34	2106	100177326-100177359
70	PAX2	10	0.98768283294842	16	1299	102566307-102566322
71	FBXW4	10	0.99596448748991	5	1239	103436141-103436142, 103454358-103454360
72	HPS6	10	0.9995704467354	1	2328	103826692
73	SUFU	10	0.99175257731959	12	1455	104263975-104263980, 104263983-104263988
74	HTRA1	10	0.94733194733195	76	1443	124221169-124221217, 124221219-124221224, 124221252-124221253, 124221256, 124221270, 124221276, 124221316-124221323, 124221336-124221337, 124221347-124221352
75	UROS	10	0.98245614035088	14	798	127483517-127483530
76	SLC25A22	11	0.97427983539095	25	972	792625-792626, 792630-792631, 792634-792636, 792647-792649, 792659-792661, 792665-792670, 792673-792675, 792682-792683, 792884
77	PNPLA2	11	0.99339933993399	10	1515	819807, 819828-819836
78	CTSD	11	0.97013720742534	37	1239	1775329-1775358, 1785070-1785073, 1785079-1785081
79	TNNI2	11	0.99817850637523	1	549	1861760
80	TH	11	0.99555555555556	7	1575	2191963-2191968, 2191979
81	CDKN1C	11	0.69716088328076	288	951	2905927-2905986, 2905999-2906005, 2906061-2906262, 2906409, 2906412-2906415, 2906424, 2906460-2906462, 2906466, 2906470-2906476, 2906496, 2906502
82	SMPD1	11	0.99947257383966	1	1896	6411935
83	SBF2	11	0.99693693693694	17	5550	9838398, 9985340-9985341, 9985395-9985406, 10052614-10052615
84	USH1C	11	0.99925925925926	2	2700	17531080, 17531335
85	ANO5	11	0.97556528081692	67	2742	22249052-22249060, 22276987-22277005, 22277011, 22277014, 22277023-22277029, 22277039-22277068
86	RAG1	11	0.99872286079183	4	3132	36594873, 36594924, 36594927-36594928
87	SLC35C1	11	0.99905303030303	1	1056	45827805
88	MADD	11	0.99858414239482	7	4944	47331113-47331119
89	SLC39A13	11	0.99910394265233	1	1116	47431750
90	SERPING1	11	0.99933466400532	1	1503	57365761
91	ROM1	11	0.99905303030303	1	1056	62381084
92	SLC22A12	11	0.98616125150421	23	1662	64367216-64367217, 64367268-64367288
93	MEN1	11	0.99945887445887	1	1848	64573223
94	BBS1	11	0.99607182940516	7	1782	66299430-66299436
95	NDUFV1	11	0.99928315412186	1	1395	67379927
96	LRP5	11	0.99443069306931	27	4848	68080197, 68080209-68080211, 68080215-68080218, 68080221-68080238, 68131221
97	IGHMBP2	11	0.99094567404427	27	2982	68704530-68704556
98	DHCR7	11	0.98179271708683	26	1428	71146573-71146585, 71146590-71146595, 71146606-71146612
99	MYO7A	11	0.99804452466907	13	6648	76922282, 76922295-76922304, 76922308-76922309
100	FZD4	11	0.99938042131351	1	1614	86666081
101	DYNC2H1	11	0.98632676709154	177	12945	102984295, 102984301, 102984315-102984316, 102984319-102984320, 102984368-102984369, 102992207-102992213, 103006665, 103006672, 103006675-103006677, 103029457-103029484, 103029744, 103031716, 103036735, 103043811-103043836, 103043954-103043956, 103044033, 103049831, 103052517-103052541, 103059240-103059277, 103059318, 103062253, 103062907-103062910, 103062919-103062922, 103082518, 103082540-103082541, 103082565-103082570, 103093711-103093713, 103093717, 103126877-103126883, 103130666, 103130681
102	ATM	11	0.98887798495257	102	9171	108126958-108126961, 108126970-108127067
103	ALG9	11	0.99128540305011	16	1836	111728429-111728444
104	DLAT	11	0.99691358024691	6	1944	111909973-111909978
105	ROBO3	11	0.99086757990868	38	4161	124738935, 124738938, 124739423-124739426, 124739435, 124748635-124748636, 124750436-124750464
106	KCNJ1	11	0.99744897959184	3	1176	128709135-128709137
107	CACNA2D4	12	0.997949619215	7	3414	2022196-2022202
108	CACNA1C	12	0.99862825788752	9	6561	2705093-2705094, 2794934-2794940
109	VWF	12	0.98377161809998	137	8442	6103069-6103071, 6103082, 6122709, 6125301-6125307, 6125372, 6125718-6125728, 6127532-6127538, 6127637-6127661, 6128554-6128560, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033
110	TNFRSF1A	12	0.99707602339181	4	1368	6439004-6439007
111	SCNN1A	12	0.99908550525834	2	2187	6472762-6472763
112	ATN1	12	0.99104394066611	32	3573	7045599-7045600, 7045603-7045604, 7045607-7045608, 7045892-7045917
113	GYS2	12	0.99810606060606	4	2112	21712065-21712068
114	ABCC9	12	0.99655913978495	16	4650	21998552, 22015987-22015988, 22025602, 22063800-22063801, 22063815, 22063874, 22063886, 22069995-22069998, 22070005-22070007
115	KRAS	12	0.99824561403509	1	570	25380242
116	DNM1L	12	0.99909543193125	2	2211	32890094-32890095
117	KIF21A	12	0.99699157641396	15	4986	39756978, 39761759-39761768, 39761775-39761778
118	LRRK2	12	0.99116561181435	67	7584	40645156, 40696666, 40753068, 40761446-40761479, 40761494-40761519, 40761525-40761527, 40761544
119	VDR	12	0.98520249221184	19	1284	48251352-48251358, 48251368-48251371, 48251382-48251389
120	COL2A1	12	0.99820788530466	8	4464	48375914-48375921
121	MLL2	12	0.99632839773685	61	16614	49426641-49426643, 49426737, 49426740-49426742, 49426749, 49426754, 49426770-49426774, 49426890-49426892, 49426915-49426918, 49427262-49427291, 49427652-49427658, 49427664, 49427667, 49431842
122	TUBA1A	12	0.87719298245614	56	456	49522195-49522241, 49522308-49522314, 49522578, 49522605
123	KRT81	12	0.97430830039526	39	1518	52684021-52684027, 52684881-52684905, 52685160-52685166
124	KRT86	12	0.98015058179329	29	1461	52695754, 52696045-52696051, 52696927-52696933, 52699030-52699036, 52699545-52699551
125	KRT6B	12	0.94749262536873	89	1695	52841338-52841344, 52844243, 52844246, 52844265, 52845397-52845410, 52845527-52845534, 52845597-52845604, 52845662-52845687, 52845798-52845820
126	KRT6C	12	0.93805309734513	105	1695	52863213, 52865900-52865928, 52866060, 52867091-52867108, 52867186-52867193, 52867257-52867264, 52867321-52867353, 52867457-52867463
127	KRT6A	12	0.96342182890855	62	1695	52881868-52881874, 52886553-52886559, 52886638-52886644, 52886707-52886714, 52886772-52886797, 52886908-52886914
128	KRT5	12	0.99661590524535	6	1773	52908849-52908850, 52908855-52908857, 52908893
129	KRT1	12	0.9906976744186	18	1935	53072484-53072485, 53072504-53072518, 53073950
130	MYO1A	12	0.99968071519796	1	3132	57424880
131	TSFM	12	0.9959100204499	4	978	58176625-58176628
132	GNS	12	0.99879445449066	2	1659	65153018-65153019
133	LEMD3	12	0.98501461988304	41	2736	65612359-65612399
134	CEP290	12	0.99368279569892	47	7440	88454607-88454608, 88454615, 88454619, 88462339, 88472986, 88479839-88479842, 88490742, 88505633, 88513970-88513971, 88513982, 88514020-88514025, 88519038, 88519096-88519102, 88520097-88520103, 88520178, 88522745, 88522794, 88532962-88532968, 88534764
135	PAH	12	0.99926416482708	1	1359	103288640
136	ATXN2	12	0.94266869609335	226	3942	112036614, 112036617, 112036726-112036753, 112036761-112036768, 112036777-112036779, 112036782, 112036785, 112036790, 112036793, 112036797-112036800, 112036804-112036810, 112036814-112036823, 112036826, 112036893-112036895, 112036908, 112036911, 112036929-112036940, 112036949-112037020, 112037026-112037078, 112037187-112037202, 112037221
137	HNF1A	12	0.98101265822785	36	1896	121434358-121434369, 121437306-121437316, 121437381-121437392, 121438910
138	PUS1	12	0.99844236760125	2	1284	132425974, 132426014
139	SGCG	13	0.99885844748858	1	876	23777835
140	SACS	13	0.99970887918486	4	13740	23912861-23912863, 23915064
141	PDX1	13	0.94483568075117	47	852	28494547-28494593
142	B3GALTL	13	0.99131596526386	13	1497	31774228-31774240
143	FREM2	13	0.99968454258675	3	9510	39261568-39261570
144	SUCLA2	13	0.9992816091954	1	1392	48571020
145	RB1	13	0.99928238249013	2	2787	48947572, 49051499
146	ATP7B	13	0.99931787175989	3	4398	52523871-52523873
147	SLITRK1	13	0.99282639885222	15	2091	84455505-84455519
148	ZIC2	13	0.93245778611632	108	1599	100634393, 100634399, 100634402, 100634405-100634408, 100635013-100635016, 100635019, 100637704-100637734, 100637737, 100637740-100637747, 100637754-100637755, 100637758, 100637788-100637792, 100637798, 100637802-100637808, 100637824-100637842, 100637845-100637858, 100637877, 100637880-100637884, 100637900
149	ERCC5	13	0.98985609813635	43	4239	103468807-103468830, 103468890-103468893, 103514594-103514605, 103514608-103514610
150	PABPN1	14	0.89250814332248	99	921	23790742, 23790854-23790857, 23790872-23790875, 23790880-23790899, 23790921-23790973, 23790996-23791005, 23791014-23791020
151	MYH6	14	0.99914089347079	5	5820	23855313-23855317
152	PCK2	14	0.99895995839834	2	1923	24568258-24568259
153	TGM1	14	0.99755501222494	6	2454	24724266-24724271
154	FOXG1	14	0.76734693877551	342	1470	29236561, 29236620-29236960
155	NKX2-1	14	0.99917081260365	1	1206	36986835
156	FANCM	14	0.97966487717586	125	6147	45623900-45623963, 45623972-45624025, 45644340, 45653101-45653105, 45668054
157	GCH1	14	0.99734395750332	2	753	55369235, 55369238
158	SYNE2	14	0.9994209612044	12	20724	64457693, 64457710-64457714, 64460553-64460554, 64518310-64518311, 64522843, 64587749
159	EIF2B2	14	0.99810606060606	2	1056	75471484, 75471531
160	ESRRB	14	0.99934512115259	1	1527	76964706
161	SPATA7	14	0.99444444444444	10	1800	88859830, 88883144-88883149, 88883154, 88883169, 88883173
162	TTC8	14	0.99741602067183	4	1548	89337904-89337907
163	ATXN3	14	0.98066298342541	21	1086	92537329-92537338, 92537354-92537358, 92537366, 92559645, 92559649-92559650, 92559661-92559662
164	VRK1	14	0.98908480268682	13	1191	97304119, 97304143-97304154
165	AMN	14	0.98751835535977	17	1362	103396580, 103396583-103396584, 103396587, 103396590, 103396613, 103396913-103396916, 103396928-103396934
166	INF2	14	0.92533333333333	280	3750	105173756, 105173762, 105173773, 105173779-105173781, 105173859-105174124, 105174185-105174190, 105174246, 105174324
167	NIPA1	15	0.82020202020202	178	990	23086234-23086411
168	UBE3A	15	0.98439878234399	41	2628	25584284-25584292, 25601867-25601884, 25616251-25616257, 25616620-25616626
169	TRPM1	15	0.99979218620116	1	4812	31320554
170	CHST14	15	0.98496905393457	17	1131	40763429-40763438, 40763455-40763457, 40763498, 40763501, 40763508, 40763747
171	TTBK2	15	0.99812583668005	7	3735	43103886-43103888, 43103897, 43103910-43103912
172	STRC	15	0.99643393393393	19	5328	43892194-43892200, 43905329, 43910867-43910872, 43910878-43910881, 43910888
173	STRC	15	0.99162479061977	5	597	44004787-44004791
174	DUOX2	15	0.99655691844201	16	4647	45399072-45399087
175	CEP152	15	0.99979859013092	1	4965	49036443
176	CYP19A1	15	0.99074074074074	14	1512	51507967-51507980
177	HCN4	15	0.98560354374308	52	3612	73614877-73614885, 73615034, 73615596, 73615599, 73616163-73616177, 73616188-73616193, 73660096-73660097, 73660103, 73660112-73660122, 73660512-73660516
178	POLG	15	0.99758064516129	9	3720	89876828-89876836
179	MESP2	15	0.97738693467337	27	1194	90320121-90320146, 90320161
180	HBZ	16	0.83449883449883	71	429	203945-203975, 204302-204305, 204315-204350
181	HBM	16	0.99765258215962	1	426	216279
182	GFER	16	0.86084142394822	86	618	2034227-2034234, 2034298-2034327, 2034340-2034387
183	TSC2	16	0.99760324483776	13	5424	2103345-2103348, 2103399, 2103407, 2111872-2111877, 2121868
184	PKD1	16	0.93060718711276	896	12912	2140747, 2140958, 2140967-2140972, 2140975, 2140978-2140988, 2141013, 2141027, 2141137, 2141147-2141175, 2141818-2141827, 2147195-2147196, 2149672, 2149741-2149771, 2149862-2149879, 2149962-2149979, 2150019-2150025, 2150069-2150071, 2150245-2150256, 2150470-2150503, 2152086-2152092, 2152126-2152174, 2152605-2152611, 2153299-2153326, 2153592-2153598, 2153721-2153741, 2153764-2153782, 2153820-2153826, 2153848-2153874, 2154570-2154611, 2155426, 2155875-2155912, 2155981-2155987, 2156120-2156126, 2156248-2156254, 2156427-2156433, 2156590, 2156596, 2156599-2156600, 2156610, 2159144-2159150, 2159313-2159319, 2159403-2159409, 2159479-2159481, 2160718-2160734, 2160769-2160775, 2163179-2163185, 2164208-2164214, 2164805-2164838, 2165486-2165507, 2166563-2166595, 2166835-2166845, 2166915-2166921, 2166976-2166982, 2167797-2167835, 2167871-2167878, 2167969-2168000, 2168056-2168075, 2168141-2168170, 2168206-2168215, 2168254-2168271, 2169115, 2185552-2185562, 2185579-2185623, 2185659-2185690
185	SLX4	16	0.99818346957312	10	5505	3639445-3639454
186	CREBBP	16	0.99317778687406	50	7329	3777808-3777811, 3778401-3778403, 3778409-3778445, 3778449-3778453, 3778953
187	GLIS2	16	0.99174603174603	13	1575	4387036-4387040, 4387050-4387052, 4387055-4387058, 4387202
188	ALG1	16	0.9405017921147	83	1395	5128860, 5128879, 5130969-5130999, 5132572-5132606, 5132636, 5134776-5134782, 5134815-5134821
189	MYH11	16	0.9996632996633	2	5940	15839093-15839094
190	ABCC6	16	0.98825354609929	53	4512	16308229-16308235, 16313531-16313539, 16315575-16315611
191	UMOD	16	0.99011960478419	19	1923	20360115-20360125, 20360129-20360132, 20360138-20360141
192	OTOA	16	0.99795321637427	7	3420	21768527-21768533
193	OTOA	16	0.9929718875502	7	996	22584667-22584673
194	PHKG2	16	0.92219492219492	95	1221	30760142-30760236
195	FUS	16	0.99936748893106	1	1581	31195306
196	CYLD	16	0.99965059399022	1	2862	50811838
197	SALL1	16	0.99069182389937	37	3975	51175644-51175676, 51175682-51175684, 51175687
198	RPGRIP1L	16	0.99848024316109	6	3948	53672225, 53682912-53682913, 53730162-53730164
199	MMP2	16	0.99949571356531	1	1983	55513464
200	CETP	16	0.98785425101215	18	1482	57017506-57017523
201	HSD11B2	16	0.8743842364532	153	1218	67465160-67465275, 67465295, 67465298-67465307, 67465313-67465320, 67469983, 67469987-67470002, 67470285
202	CIRH1A	16	0.99902959728287	2	2061	69173752-69173753
203	COG8	16	0.9994562262099	1	1839	69364802
204	TAT	16	0.9970695970696	4	1365	71604714-71604717
205	GAN	16	0.99386845039019	11	1794	81348837-81348847
206	MLYCD	16	0.93252361673414	100	1482	83932808-83932823, 83932836-83932837, 83932847-83932894, 83932973-83933000, 83933082-83933086, 83933098
207	FOXF1	16	0.99736842105263	3	1140	86544211-86544213
208	JPH3	16	0.99287939474855	16	2247	87723683-87723687, 87723694-87723700, 87723707-87723710
209	CYBA	16	0.98299319727891	10	588	88709867-88709876
210	GALNS	16	0.9993626513703	1	1569	88923221
211	SPG7	16	0.99706867671692	7	2388	89579413-89579416, 89579419-89579420, 89579423
212	FANCA	16	0.99931318681319	3	4368	89842213-89842215
213	TUBB3	16	0.99852180339985	2	1353	90002030, 90002095
214	ASPA	17	0.99893842887473	1	942	3402370
215	GP1BA	17	0.99947916666667	1	1920	4837750
216	PITPNM3	17	0.9965811965812	10	2925	6358765, 6358769, 6358776, 6358796-6358801, 6358919
217	GUCY2D	17	0.96829710144928	105	3312	7906366-7906390, 7906400-7906479
218	HES7	17	0.99557522123894	3	678	8024999, 8025002-8025003
219	MYH2	17	0.99776862341229	13	5826	10446431-10446434, 10446443-10446446, 10446469-10446473
220	ELAC2	17	0.99637243047158	9	2481	12896189-12896197
221	COX10	17	0.98873873873874	15	1332	14095306-14095312, 14095344-14095351
222	RAI1	17	0.99563013459185	25	5721	17697099-17697102, 17697105, 17697114-17697133
223	MYO15A	17	0.99886717643727	12	10593	18024013, 18024040-18024043, 18024145, 18024774, 18049333-18049337
224	UNC119	17	0.97233748271093	20	723	26879373, 26879376-26879378, 26879392, 26879400-26879403, 26879407, 26879412, 26879435, 26879441, 26879457-26879458, 26879494-26879495, 26879501-26879502, 26879509
225	NF1	17	0.98908450704225	93	8520	29422328-29422329, 29422347-29422348, 29422367-29422369, 29422382-29422387, 29527566-29527572, 29546084, 29556221-29556258, 29586080-29586081, 29586091-29586093, 29586123-29586130, 29588748-29588768
226	KRT10	17	0.98974358974359	18	1755	38975121-38975130, 38975136, 38975145-38975148, 38978766-38978768
227	KRT14	17	0.9492600422833	72	1419	39738749-39738763, 39741304-39741309, 39742829-39742872, 39743030-39743036
228	KRT16	17	0.92827004219409	102	1422	39766240-39766281, 39768412-39768418, 39768490-39768496, 39768658-39768664, 39768721-39768759
229	KRT17	17	0.96843725943033	41	1299	39780414-39780440, 39780465-39780471, 39780516-39780522
230	STAT5B	17	0.99450084602369	13	2364	40371359-40371371
231	SOST	17	0.99844236760125	1	642	41832767
232	GRN	17	0.99775533108866	4	1782	42429884, 42430054-42430056
233	PLEKHM1	17	0.99653106275623	11	3171	43531617-43531624, 43552537, 43552921, 43555372
234	MAPT	17	0.999570999571	1	2331	44073816
235	WNT3	17	0.99906367041199	1	1068	44851210
236	SGCA	17	0.99914089347079	1	1164	48247650
237	RAD51C	17	0.99911582670203	1	1131	56770068
238	BRIP1	17	0.99866666666667	5	3750	59793319-59793322, 59793406
239	ACE	17	0.99413414945167	23	3921	61554481-61554502, 61566095
240	POLG2	17	0.99725651577503	4	1458	62476432-62476434, 62493015
241	AXIN2	17	0.9980252764613	5	2532	63554542-63554546
242	SOX9	17	0.99607843137255	6	1530	70120081, 70120111-70120115
243	COG1	17	0.99626231736323	11	2943	71189259-71189262, 71189280, 71189314-71189316, 71189331, 71189359, 71189417
244	ITGB4	17	0.99926860486378	4	5469	73751790-73751793
245	UNC13D	17	0.99847234952643	5	3273	73827374, 73827377, 73827380-73827382
246	SEPT9	17	0.92277115275412	136	1761	75494605-75494740
247	LAMA3	18	0.99880023995201	12	10002	21269658-21269662, 21269665, 21269673, 21269754-21269757, 21293884
248	DSC3	18	0.99256781865478	20	2691	28598666-28598685
249	DSG2	18	0.99910634495085	3	3357	29078233-29078235
250	LOXHD1	18	0.97709463532248	152	6636	44126858-44127009
251	MYO5B	18	0.99206778438796	44	5547	47352944-47352980, 47364149-47364155
252	SMAD4	18	0.99879445449066	2	1659	48593504, 48603095
253	ATP8B1	18	0.99574014909478	16	3756	55398954-55398969
254	RAX	18	0.99903938520653	1	1041	56936558
255	LMAN1	18	0.99478147423353	8	1533	57000414-57000420, 57000447
256	CCBE1	18	0.996723996724	4	1221	57134040, 57134046, 57134058-57134059
257	TNFRSF11A	18	0.99459751485683	10	1851	59992598-59992606, 59992609
258	CTDP1	18	0.999306999307	2	2886	77440008, 77440012
259	ELANE	19	0.86691542288557	107	804	853262-853367, 853403
260	KISS1R	19	0.92564745196324	89	1197	918646, 918657-918658, 920314-920353, 920382, 920393-920395, 920400-920414, 920420, 920424-920427, 920580-920583, 920602, 920605, 920611, 920631, 920636, 920642-920645, 920723-920727, 920732-920735
261	MAP2K2	19	0.92352452202826	92	1203	4123781-4123872
262	TUBB4	19	0.98801498127341	16	1335	6495566-6495567, 6495576-6495581, 6495592-6495595, 6495602-6495605
263	C3	19	0.99519230769231	24	4992	6707092, 6707100-6707104, 6707114-6707127, 6709722-6709725
264	INSR	19	0.99445649554109	23	4149	7184495, 7293869-7293879, 7293883-7293893
265	PNPLA6	19	0.99548192771084	18	3984	7605174-7605189, 7615914-7615915
266	PRKCSH	19	0.99621928166352	6	1587	11558341-11558346
267	CACNA1A	19	0.98351283074059	124	7521	13318569, 13318670, 13318673-13318691, 13318702-13318705, 13318712, 13318779-13318813, 13318820-13318865, 13319692-13319697, 13409588-13409590, 13409605, 13414642-13414648
268	NOTCH3	19	0.99454493252943	38	6966	15281355-15281358, 15311619-15311621, 15311632, 15311635-15311641, 15311646-15311652, 15311660-15311666, 15311676-15311681, 15311696-15311698
269	JAK3	19	0.99911111111111	3	3375	17940937-17940938, 17945483
270	SLC5A5	19	0.99948240165631	1	1932	17984965
271	COMP	19	0.99956024626209	1	2274	18900759
272	CEBPA	19	0.93964716805942	65	1077	33792757, 33792766, 33792985, 33792988, 33792999-33793001, 33793004-33793010, 33793013-33793015, 33793020, 33793143-33793145, 33793167, 33793171-33793180, 33793184, 33793187-33793217, 33793248
273	SCN1B	19	0.95043370508055	40	807	35521725-35521764
274	WDR62	19	0.99912510936133	4	4572	36583671-36583674
275	RYR1	19	0.99794932857048	31	15117	38931386, 38931391-38931393, 38931448, 38985070, 38993169, 38993172, 39014562-39014564, 39037108, 39055749-39055755, 39055760, 39055764-39055770, 39055890, 39055895, 39055899, 39055908
276	PRX	19	0.99475604195166	23	4386	40901321-40901330, 40909681-40909685, 40909692-40909693, 40909699, 40909709, 40909753, 40909767-40909769
277	TGFB1	19	0.99914748508099	1	1173	41858751
278	ATP1A3	19	0.99918433931485	3	3678	42470836, 42470997, 42471019
279	BCAM	19	0.99470058293588	10	1887	45321861-45321862, 45324038-45324040, 45324075-45324079
280	SIX5	19	0.9954954954955	10	2220	46270019, 46272023, 46272037-46272044
281	DMPK	19	0.94867724867725	97	1890	46285488-46285495, 46285502-46285555, 46285576-46285610
282	DBP	19	0.94069529652352	58	978	49138837-49138883, 49138892-49138893, 49138937, 49138940-49138943, 49138946, 49139009-49139010, 49139074
283	MED25	19	0.99866310160428	3	2244	50333777, 50334130-50334131
284	PNKP	19	0.99233716475096	12	1566	50365640-50365651
285	KCNC3	19	0.8570800351803	325	2274	50823503-50823585, 50826278, 50826292, 50826438, 50831522-50831524, 50831528, 50831554, 50831583, 50831591-50831594, 50831638-50831640, 50831706-50831715, 50831739, 50831743, 50831750, 50831757-50831761, 50831878, 50831901, 50831942-50831966, 50831993-50831998, 50832006-50832011, 50832025-50832028, 50832141-50832145, 50832180-50832339
286	NLRP12	19	0.99529190207156	15	3186	54313662, 54313665, 54313855-54313860, 54313870-54313875, 54313884
287	PRKCG	19	0.97086914995224	61	2094	54393143, 54393146-54393148, 54393160, 54393163-54393169, 54393172, 54393191-54393192, 54393219-54393223, 54393231-54393271
288	TSEN34	19	0.9903536977492	9	933	54695337, 54697188-54697195
289	NLRP7	19	0.99229287090559	24	3114	55450724-55450740, 55451167-55451173
290	TNNT1	19	0.99746514575412	2	789	55652312, 55657813
291	TNNI3	19	0.98850574712644	7	609	55665492-55665498
292	KLF11	2	0.98960363872645	16	1539	10183860-10183865, 10183871-10183880
293	APOB	2	0.99780893952673	30	13692	21233076-21233077, 21255241-21255258, 21266775-21266783, 21266803
294	POMC	2	0.98880597014925	9	804	25384469-25384477
295	HADHB	2	0.99298245614035	10	1425	26477130-26477139
296	OTOF	2	0.98448448448448	93	5994	26697412-26697414, 26697417-26697418, 26699759-26699778, 26699788, 26699802-26699811, 26699822-26699830, 26699845-26699859, 26699872-26699904
297	C2orf71	2	0.99896560641324	4	3867	29293895-29293898
298	ALK	2	0.99958873123586	2	4863	29451757, 29451796
299	SPAST	2	0.91572123176661	156	1851	32289013-32289036, 32289083-32289102, 32289113, 32289126-32289129, 32289139-32289228, 32289232-32289242, 32289247-32289249, 32340806, 32340831, 32341208
300	SOS1	2	0.99975012493753	1	4002	39224501
301	MSH2	2	0.9982174688057	5	2805	47639652, 47641451-47641454
302	MSH6	2	0.97697771246632	94	4083	48010420, 48010438-48010471, 48010525-48010539, 48010547-48010582, 48023122-48023129
303	LHCGR	2	0.99809523809524	4	2100	48982784-48982787
304	NRXN1	2	0.99954802259887	2	4425	50765567-50765568
305	EFEMP1	2	0.99055330634278	14	1482	56102083, 56102097, 56102180, 56102184, 56103835-56103842, 56144955-56144956
306	FANCL	2	0.99379432624113	7	1128	58392918-58392924
307	ATP6V1B1	2	0.99870298313878	2	1542	71163132, 71163136
308	ALMS1	2	0.99672104926424	41	12504	73613002-73613003, 73613008, 73613015-73613041, 73613050-73613052, 73827996-73828002, 73828342
309	MOGS	2	0.99880668257757	3	2514	74689081-74689083
310	GGCX	2	0.99648660518226	8	2277	85788523-85788530
311	SFTPB	2	0.99738219895288	3	1146	85895264-85895266
312	REEP1	2	0.98349834983498	10	606	86564605, 86564615-86564618, 86564629-86564633
313	EIF2AK3	2	0.99910474485228	3	3351	88926730-88926732
314	RANBP2	2	0.91720930232558	801	9675	109347316-109347341, 109347874-109347894, 109351990-109352029, 109352701, 109357029-109357056, 109357069-109357116, 109365423-109365429, 109365544-109365573, 109367754, 109367831-109367847, 109368046-109368052, 109368074-109368110, 109368430-109368440, 109369543-109369561, 109369942-109369948, 109370369-109370401, 109371483-109371512, 109371632-109371662, 109371682-109371715, 109374869-109374872, 109374901-109374918, 109378633, 109382787-109382793, 109382840-109382846, 109382889-109382913, 109382937-109382946, 109383000-109383006, 109383032-109383058, 109383107-109383148, 109383204-109383210, 109383268-109383274, 109383295-109383321, 109383354-109383360, 109383672-109383708, 109383768-109383798, 109383822-109383828, 109383885-109383891, 109383980-109384013, 109384164-109384170, 109384466-109384472, 109384505-109384511, 109384561-109384567, 109384597-109384615, 109384628-109384634, 109399144-109399147, 109399157-109399159
315	NPHP1	2	0.99410029498525	12	2034	110917774-110917785
316	MERTK	2	0.99366666666667	19	3000	112656315-112656317, 112656320-112656330, 112722768-112722770, 112786428, 112786441
317	GLI2	2	0.99537912203319	22	4761	121746116, 121746168-121746174, 121746177-121746183, 121746219, 121746243-121746247, 121746252
318	PROC	2	0.99062049062049	13	1386	128180494, 128180509, 128180700-128180701, 128180705, 128180722-128180723, 128180726-128180731
319	CFC1	2	0.99702380952381	2	672	131280380, 131280383
320	LCT	2	0.99982710926694	1	5784	136564742
321	MCM6	2	0.99959448499594	1	2466	136627931
322	MMADHC	2	0.98540965207632	13	891	150432225-150432233, 150432969-150432972
323	NEB	2	0.99634524882347	73	19974	152432726-152432731, 152432735, 152432739-152432745, 152432755-152432761, 152432769-152432772, 152432783-152432820, 152432864, 152515580-152515587, 152515595
324	SCN2A	2	0.99318710535061	41	6018	166167009-166167024, 166172086-166172098, 166221766, 166234112-166234117, 166237610-166237614
325	GALNT3	2	0.99474237644585	10	1902	166611173, 166611176, 166611179-166611180, 166611191-166611194, 166621565-166621566
326	SCN9A	2	0.99460734748905	32	5934	167060963, 167060974, 167083122-167083137, 167083147-167083151, 167083198-167083206
327	HOXD13	2	0.99903100775194	1	1032	176957972
328	AGPS	2	0.95852301466869	82	1977	178346814-178346871, 178346880-178346899, 178362490-178362493
329	TTN	2	0.99961096480728	39	100248	179466239-179466250, 179523794-179523802, 179542478, 179543206, 179633485-179633500
330	COL3A1	2	0.99022949329698	43	4401	189849969-189849973, 189854149-189854157, 189856917, 189868756, 189868760-189868763, 189871663-189871681, 189871692-189871695
331	PMS1	2	0.99857091818507	4	2799	190718770, 190718807-190718808, 190728731
332	CASP8	2	0.98763141620284	20	1617	202149585, 202149617-202149635
333	BMPR2	2	0.99935835739493	2	3117	203384863, 203384866
334	ABCA12	2	0.9989727786338	8	7788	215809769, 215809816-215809819, 215809826-215809828
335	SMARCAL1	2	0.99755671902269	7	2865	217347531-217347534, 217347542, 217347552, 217347565
336	WNT10A	2	0.99681020733652	4	1254	219745752-219745755
337	OBSL1	2	0.99964856791425	2	5691	220435670, 220435781
338	COL4A4	2	0.99980252764613	1	5064	227942774
339	CHRND	2	0.997425997426	4	1554	233390930-233390931, 233390934-233390935
340	AGXT	2	0.9991518235793	1	1179	241808308
341	D2HGDH	2	0.99361430395913	10	1566	242689575-242689583, 242707237
342	C20orf54	20	0.97730496453901	32	1410	744354-744385
343	AVP	20	0.84848484848485	75	495	3063386-3063391, 3063398-3063404, 3063623-3063636, 3063647, 3063657, 3063660-3063664, 3063668-3063682, 3063716-3063720, 3063772, 3063775-3063782, 3063786, 3063790-3063793, 3063813-3063819
344	PANK2	20	0.9877408056042	21	1713	3870227-3870228, 3870244-3870257, 3870263, 3870267-3870270
345	C20orf7	20	0.99132947976879	9	1038	13782208, 13782211-13782218
346	SNTA1	20	0.98880105401845	17	1518	32031224, 32031382-32031391, 32031401-32031406
347	HNF4A	20	0.99228070175439	11	1425	43052772-43052782
348	CTSA	20	0.99799599198397	3	1497	44520238-44520240
349	SALL4	20	0.99905123339658	3	3162	50418882-50418884
350	COL9A3	20	0.9985401459854	3	2055	61456372, 61461904-61461905
351	SOX18	20	0.68917748917749	359	1155	62680088, 62680512-62680869
352	BACH1	21	0.99728629579376	6	2211	30715035-30715040
353	IFNGR2	21	0.96351084812623	37	1014	34775858-34775868, 34775871, 34775876, 34775887-34775894, 34775897-34775902, 34775906-34775909, 34775912-34775917
354	RCAN1	21	0.99868247694335	1	759	35987214
355	RUNX1	21	0.998613998614	2	1443	36164517, 36259354
356	HLCS	21	0.99770747363595	5	2181	38309515-38309519
357	CBS	21	0.9957729468599	7	1656	44492115-44492121
358	AIRE	21	0.96703296703297	54	1638	45712879, 45712884, 45712930-45712931, 45712942-45712945, 45712983-45712992, 45713013-45713035, 45713046-45713058
359	ITGB2	21	0.9982683982684	4	2310	46308630, 46308659, 46308663, 46308721
360	COL18A1	21	0.99620132953466	20	5265	46875483-46875499, 46876562, 46927489, 46931080
361	COL6A1	21	0.98736637512148	39	3087	47401809-47401815, 47410172-47410189, 47410323-47410336
362	COL6A2	21	0.99934640522876	2	3060	47531486-47531487
363	PCNT	21	0.99270802117671	73	10011	47754408-47754473, 47754494-47754500
364	PEX26	22	0.99782135076253	2	918	18561225-18561226
365	PRODH	22	0.99556295063783	8	1803	18905842, 18923545-18923550, 18923565
366	GP1BB	22	0.94847020933977	32	621	19711651, 19711679, 19711682-19711692, 19711784-19711789, 19711809, 19711814-19711823, 19711831, 19711902
367	TBX1	22	0.87365591397849	188	1488	19748428-19748599, 19748666-19748669, 19753505, 19753510-19753512, 19753968, 19754240-19754242, 19754245-19754248
368	CHEK2	22	0.93469619534355	115	1761	29083906-29083917, 29083946-29083965, 29085135-29085171, 29091173-29091203, 29091737-29091743, 29091837-29091844
369	NF2	22	0.99608501118568	7	1788	30074303-30074309
370	LARGE	22	0.99735799207398	6	2271	33700336-33700338, 33700342-33700344
371	MYH9	22	0.99983001869794	1	5883	36688090
372	TRIOBP	22	0.96759650605804	230	7098	38119846-38119862, 38119879-38119905, 38120006, 38120140-38120156, 38120172-38120199, 38120297-38120346, 38120417-38120453, 38120482-38120485, 38120542, 38120666-38120710, 38122448, 38165151-38165152
373	PLA2G6	22	0.99339116067741	16	2421	38531017-38531032
374	EP300	22	0.99889579020014	8	7245	41533734-41533741
375	TNFRSF13C	22	0.92792792792793	40	555	42322247-42322262, 42322269-42322278, 42322293-42322296, 42322301-42322305, 42322316-42322320
376	CYB5R3	22	0.98896247240618	10	906	43045312-43045321
377	MLC1	22	0.96913580246914	35	1134	50502463-50502494, 50502593-50502595
378	TYMP	22	0.97308488612836	39	1449	50964248, 50964262-50964263, 50964451, 50964463-50964466, 50964486, 50964489, 50964492, 50964512-50964520, 50964546, 50964700, 50964808-50964824
379	ARSA	22	0.99475065616798	8	1524	51063695, 51063811-51063817
380	SHANK3	22	0.83562166285278	862	5244	51113070-51113132, 51135957-51136143, 51158721-51159041, 51159076-51159077, 51159080, 51159083-51159085, 51159093-51159094, 51159097-51159101, 51159108, 51159150-51159161, 51159166-51159187, 51159324, 51169180-51169225, 51169300, 51169324-51169331, 51169432-51169448, 51169480-51169533, 51169549-51169584, 51169606-51169635, 51169659-51169667, 51169671-51169673, 51169683-51169687, 51169708-51169740
381	FANCD2	3	0.99275362318841	32	4416	10088296-10088311, 10091150-10091156, 10114941-10114949
382	RAF1	3	0.9994863893169	1	1947	12650834
383	CRTAP	3	0.99336650082919	8	1206	33155787, 33155883-33155889
384	MLH1	3	0.99955966534566	1	2271	37067184
385	TMIE	3	0.98089171974522	9	471	46751074-46751082
386	COL7A1	3	0.99932088285229	6	8835	48627056-48627057, 48627066-48627068, 48627076
387	GNAT1	3	0.99525166191833	5	1053	50229228-50229231, 50229239
388	RFT1	3	0.99753997539975	4	1626	53138089-53138090, 53156437, 53156486
389	TKT	3	0.9957264957265	8	1872	53262341-53262348
390	ATXN7	3	0.8985200845666	288	2838	63898275-63898403, 63898410-63898411, 63898420-63898424, 63898434-63898441, 63898449-63898591, 63898883
391	GBE1	3	0.94215267899478	122	2109	81754625, 81754644-81754764
392	PROS1	3	0.98276710979813	35	2031	93595964-93595993, 93596002-93596006
393	ARL13B	3	0.998445998446	2	1287	93762026, 93762084
394	ARL6	3	0.98752228163993	7	561	97503811-97503817
395	NPHP3	3	0.96218382168795	151	3993	132438549-132438674, 132441009, 132441037, 132441045-132441052, 132441056, 132441063-132441064, 132441067-132441068, 132441117-132441126
396	FOXL2	3	0.95667550839965	49	1131	138664660-138664680, 138664707, 138664726, 138664793-138664794, 138664816, 138664819, 138664864-138664874, 138664878, 138664884-138664887, 138664890, 138665034, 138665045-138665046, 138665051-138665052
397	PLOD2	3	0.99692577953448	7	2277	145804574-145804577, 145804632, 145804690, 145804695
398	CLRN1	3	0.97997138769671	14	699	150645916-150645929
399	IFT80	3	0.99613402061856	9	2328	160037688-160037695, 160075341
400	SLC2A2	3	0.99936507936508	1	1575	170716883
401	GHSR	3	0.98910081743869	12	1101	172163088-172163099
402	SOX2	3	0.99475890985325	5	954	181430206-181430208, 181430223, 181430228
403	IDUA	4	0.99898063200815	2	1962	981637, 997173
404	FGFR3	4	0.99958796868562	1	2427	1803645
405	SH3BP2	4	0.99623047926764	7	1857	2819973-2819979
406	HTT	4	0.98790964047089	114	9429	3076605-3076647, 3076650-3076666, 3076669-3076672, 3076684-3076702, 3076709-3076715, 3076728-3076744, 3076766-3076772
407	DOK7	4	0.98151815181518	28	1515	3465116, 3465241, 3465252-3465277
408	MSX1	4	0.99671052631579	3	912	4861907, 4861968-4861969
409	EVC	4	0.99865726753944	4	2979	5713180, 5713227, 5754653-5754654
410	CNGA1	4	0.98947368421053	24	2280	47954609, 47954613-47954619, 47954669-47954683, 47972924
411	SGCB	4	0.99791013584117	2	957	52904402-52904403
412	SLC4A4	4	0.99939117199391	2	3285	72352665-72352666
413	PKD2	4	0.97592019263846	70	2907	88928933-88928961, 88928977-88929017
414	SNCA	4	0.88179669030733	50	423	90743497-90743504, 90749294-90749335
415	MANBA	4	0.99280303030303	19	2640	103611767-103611779, 103611790-103611793, 103611801, 103611804
416	CISD2	4	0.92156862745098	32	408	103808498-103808522, 103808569-103808575
417	ANK2	4	0.99941047667172	7	11874	114161651, 114161654, 114161657, 114161661-114161664
418	BBS7	4	0.99487895716946	11	2148	122766675, 122775907, 122775916-122775918, 122775970-122775971, 122782809-122782812
419	FGB	4	0.99932249322493	1	1476	155484279
420	CTSO	4	0.99585921325052	4	966	156863570-156863573
421	GLRB	4	0.94846050870147	77	1494	158041708-158041741, 158041751-158041793
422	GK	4	0.9488567990373	85	1662	166199162-166199179, 166199345, 166199361, 166199426-166199469, 166199558-166199569, 166200028, 166200063, 166200504-166200510
423	SDHA	5	0.95238095238095	95	1995	224630-224636, 228378-228399, 233592-233598, 236673-236681, 251107-251114, 251143-251149, 251500-251506, 254526-254532, 254571-254577, 256469-256475, 256511-256517
424	TERT	5	0.97999411591645	68	3399	1294611, 1294668-1294704, 1294718-1294735, 1295063-1295066, 1295075-1295082
425	SDHA	5	0.95718654434251	14	327	1593261-1593267, 1593352-1593358
426	DNAH5	5	0.99618018018018	53	13875	13810318, 13841157-13841165, 13914651-13914664, 13916457-13916461, 13916516-13916517, 13916523-13916544
427	AMACR	5	0.99825935596171	2	1149	34007929, 34007977
428	NIPBL	5	0.96470588235294	297	8415	37016169-37016172, 37016183, 37017126-37017128, 37024778-37024790, 37036481-37036589, 37044801-37044809, 37048604-37048742, 37048761-37048762, 37048772-37048773, 37064895-37064909
429	LIFR	5	0.9802671523983	65	3294	38482691-38482692, 38482722, 38482728, 38482737-38482749, 38482752-38482769, 38506043, 38506046-38506053, 38506066-38506083, 38506085-38506087
430	OXCT1	5	0.94433781190019	87	1563	41862744-41862786, 41862789-41862792, 41862798-41862823, 41862827-41862831, 41862842-41862850
431	ERCC8	5	0.99748110831234	3	1191	60186811, 60200642-60200643
432	NDUFAF2	5	0.99607843137255	2	510	60448603-60448604
433	SMN2	5	0.97966101694915	18	885	69362945-69362961, 69372353
434	SMN2	5	0.98079096045198	17	885	70238369-70238385
435	MCCC2	5	0.99231678486998	13	1692	70900277-70900289
436	HEXB	5	0.98803111909037	20	1671	73981094-73981113
437	AP3B1	5	0.99147640791476	28	3285	77412011, 77471519, 77471616-77471619, 77521380, 77536760, 77563393-77563396, 77563404-77563419
438	VCAN	5	0.99980374840546	2	10191	82836218-82836219
439	RASA1	5	0.95706106870229	135	3144	86669980-86669984, 86669999-86670005, 86670015-86670137
440	MEF2C	5	0.98804500703235	17	1422	88024374, 88024391-88024398, 88024405-88024411, 88024417
441	GPR98	5	0.99836160879446	31	18921	89914967-89914969, 89925143-89925149, 89941796-89941797, 89941842, 89971911-89971914, 90049542, 90049556, 90074337, 90101117-90101120, 90144505, 90144562-90144564, 90144595, 90144635, 90261251
442	PCSK1	5	0.99867374005305	3	2262	95764945-95764947
443	WDR36	5	0.99299719887955	20	2856	110432801, 110436324, 110436340-110436342, 110436352, 110436356-110436363, 110436374-110436377, 110436384-110436385
444	APC	5	0.99894514767932	9	8532	112111326-112111327, 112128143-112128144, 112128154, 112128157, 112128179, 112128183, 112128186
445	HSD17B4	5	0.99683401175938	7	2211	118867066-118867072
446	FBN2	5	0.99370637372697	55	8739	127645707-127645713, 127681229-127681248, 127702072-127702073, 127702079-127702103, 127702120
447	TGFBI	5	0.9995126705653	1	2052	135364878
448	MYOT	5	0.98463593854375	23	1497	137221737-137221756, 137221798, 137221809, 137221858
449	MATR3	5	0.99764150943396	6	2544	138658510-138658515
450	NDUFA2	5	0.98666666666667	4	300	140027143-140027145, 140027148
451	DIAPH1	5	0.99450117831893	21	3819	140953397-140953399, 140953425-140953426, 140953440, 140953519, 140953564-140953572, 140953575-140953576, 140953586, 140962831-140962832
452	PPP2R2B	5	0.98948948948949	14	1332	146077569-146077582
453	GRM6	5	0.9791192103265	55	2634	178421742, 178421750, 178421764, 178421769-178421770, 178421863, 178421869-178421873, 178421893-178421919, 178421929-178421945
454	SQSTM1	5	0.99848828420257	2	1323	179248005, 179248010
455	FLT4	5	0.99389051808407	25	4092	180057747-180057751, 180076526-180076545
456	FOXC1	6	0.97894103489771	35	1662	1611659, 1611692, 1611698-1611704, 1611707-1611710, 1611713-1611724, 1612018-1612027
457	TUBB2B	6	0.96337817638266	49	1338	3225438-3225478, 3225602-3225609
458	GCM2	6	0.99934253780408	1	1521	10874472
459	ATXN1	6	0.97753267973856	55	2448	16327863-16327868, 16327876-16327896, 16327919-16327927, 16327930-16327943, 16327946-16327947, 16327953-16327955
460	TNXB	6	0.9751166407465	48	1929	31977552, 31978782-31978815, 31979413-31979423, 31980000, 31980074
461	CYP21A2	6	0.99462365591398	8	1488	32006317, 32006337, 32007323-32007328
462	TNXB	6	0.9988215884987	15	12729	32010043-32010044, 32012267-32012274, 32018088, 32046810-32046813
463	HLA-DQA1	6	0.734375	204	768	32605271-32605274, 32609166-32609315, 32609949-32609977, 32609999-32610012, 32610492-32610498
464	HLA-DQB1	6	0.66666666666667	262	786	32629124-32629173, 32629190-32629213, 32629227, 32629844-32629908, 32629932-32629958, 32634279-32634358, 32634370-32634384
465	COL11A2	6	0.99616196507388	20	5211	33137218-33137232, 33138123-33138124, 33138127, 33140356-33140357
466	SYNGAP1	6	0.91666666666667	336	4032	33388042-33388108, 33393590, 33393594, 33393606-33393619, 33393631-33393635, 33393637-33393642, 33393645, 33393656-33393680, 33410906, 33410982-33410985, 33411488-33411698
467	MOCS1	6	0.99738356881214	5	1911	39874703-39874707
468	RUNX2	6	0.96807151979566	50	1566	45390442, 45390445-45390449, 45390456-45390461, 45390464-45390466, 45390469, 45390472-45390480, 45390486-45390491, 45390504-45390510, 45390515-45390520, 45390523-45390528
469	CD2AP	6	0.99010416666667	19	1920	47549772-47549784, 47563646-47563649, 47563692, 47563706
470	MUT	6	0.96493564136707	79	2253	49409574-49409636, 49415388-49415400, 49416556-49416557, 49419278
471	PKHD1	6	0.9921472392638	96	12225	51929753-51929848
472	EYS	6	0.98717541070482	121	9435	64940569-64940580, 65523326-65523357, 65523399-65523434, 65596626, 66005836-66005839, 66005848, 66005857, 66005885-66005900, 66005922-66005939
473	LMBRD1	6	0.99938385705484	1	1623	70410729
474	RIMS1	6	0.99901555424296	5	5079	72974743, 72974746, 72974749, 73108792-73108793
475	LCA5	6	0.99952244508118	1	2094	80196815
476	BCKDHB	6	0.99491094147583	6	1179	80881025, 80881028, 80881066, 80881093-80881095
477	SLC35A1	6	0.99605522682446	4	1014	88210377-88210378, 88210876-88210877
478	SEC63	6	0.99299167761717	16	2283	108218919-108218934
479	OSTM1	6	0.99900497512438	1	1005	108366006
480	FIG4	6	0.9985315712188	4	2724	110081478-110081481
481	WISP3	6	0.99910634495085	1	1119	112386086
482	ENPP1	6	0.98704103671706	36	2778	132129187, 132129193, 132171184, 132171187-132171190, 132203494-132203517, 132203568-132203572
483	EYA4	6	0.99635416666667	7	1920	133769280, 133769283-133769287, 133769290
484	PEX7	6	0.91666666666667	81	972	137167222-137167293, 137167311-137167319
485	EPM2A	6	0.98393574297189	16	996	146056484-146056492, 146056502, 146056514-146056519
486	SYNE1	6	0.99916647722967	22	26394	152529277-152529279, 152545790-152545796, 152716679-152716682, 152737829-152737832, 152748859, 152774736-152774738
487	PARK2	6	0.9656652360515	48	1398	161969945-161969992
488	TBP	6	0.92843137254902	73	1020	170871008-170871014, 170871025, 170871028, 170871031, 170871034, 170871037-170871091, 170871097-170871102, 170871107
489	LFNG	7	0.80964912280702	217	1140	2559496-2559554, 2559575-2559576, 2559580, 2559594-2559639, 2559650-2559680, 2559698-2559704, 2559718, 2559748, 2559759-2559784, 2559792-2559794, 2559799-2559813, 2559823-2559841, 2559876-2559881
490	PMS2	7	0.97025878717652	77	2589	6013045-6013052, 6013149-6013156, 6026905-6026918, 6026988, 6027002, 6045523-6045529, 6045563-6045600
491	TWIST1	7	0.7487684729064	153	609	19156550, 19156793-19156944
492	DNAH11	7	0.99764220453876	32	13572	21630557-21630576, 21630580, 21630583-21630584, 21630616, 21847644-21847651
493	HOXA13	7	0.81319622964867	218	1167	27239312, 27239315-27239321, 27239324, 27239332-27239333, 27239362, 27239370-27239372, 27239388-27239590
494	GARS	7	0.99369369369369	14	2220	30673449-30673462
495	RP9	7	0.9984984984985	1	666	33148935
496	BBS9	7	0.996996996997	8	2664	33303913, 33303916, 33303923-33303928
497	GLI3	7	0.99978916297702	1	4743	42005678
498	CCM2	7	0.97752808988764	30	1335	45039933-45039962
499	GRB10	7	0.99887955182073	2	1785	50771604-50771605
500	EGFR	7	0.99944949077897	2	3633	55087012-55087013
501	SBDS	7	0.99070385126162	7	753	66456158-66456164
502	NCF1	7	0.8969696969697	85	825	72639957-72639989, 72640033-72640039, 72643704-72643710, 72644230-72644236, 72648669-72648699
503	ELN	7	0.99264367816092	16	2175	73442540-73442553, 73466286-73466287
504	NCF1	7	0.93606138107417	75	1173	74188403-74188409, 74193642, 74193668, 74197385-74197391, 74197911-74197917, 74202349-74202379, 74202903-74202923
505	CD36	7	0.99929527836505	1	1419	80285968
506	HGF	7	0.99954275262917	1	2187	81340803
507	AKAP9	7	0.99667349027636	39	11724	91609603-91609621, 91609640-91609647, 91714844, 91714911, 91714915-91714923, 91714938
508	PEX1	7	0.99948078920042	2	3852	92140297, 92157704
509	COL1A2	7	0.99390392587174	25	4101	94030899, 94049713-94049728, 94049933-94049936, 94049947-94049950
510	SLC25A13	7	0.99803052683407	4	2031	95751294-95751297
511	TFR2	7	0.99958437240233	1	2406	100238652
512	SLC26A5	7	0.99955257270694	1	2235	103017277
513	SLC26A4	7	0.99829278702518	4	2343	107323657-107323659, 107323668
514	IFRD1	7	0.99705014749263	4	1356	112102122, 112102134-112102136
515	CFTR	7	0.95138419986496	216	4443	117188713-117188753, 117188760-117188800, 117188838-117188853, 117234984-117235025, 117235030, 117235038-117235112
516	AASS	7	0.99784250269687	6	2781	121769543, 121769546, 121769586-121769589
517	IMPDH1	7	0.99944444444444	1	1800	128049912
518	FLNC	7	0.99914404499878	7	8178	128498187-128498193
519	ATP6V0A4	7	0.9889021006738	28	2523	138394378, 138394389, 138394393-138394399, 138394409-138394414, 138394425-138394431, 138394436-138394441
520	BRAF	7	0.99521946979574	11	2301	140453086, 140624404-140624411, 140624415, 140624423
521	PRSS1	7	0.79301075268817	154	744	142458411-142458440, 142459625-142459629, 142459664-142459682, 142459781-142459817, 142459863-142459878, 142460295, 142460313, 142460332-142460342, 142460366-142460397, 142460719-142460720
522	CNTNAP2	7	0.9974974974975	10	3996	145813983-145813988, 145813994-145813997
523	KCNH2	7	0.95229885057471	166	3480	150644694-150644700, 150644704-150644721, 150644727-150644731, 150644754-150644757, 150644780, 150645562, 150648903, 150671852-150671871, 150671880-150671883, 150671887-150671890, 150671906, 150671909, 150671913-150671916, 150671924, 150671927, 150671933-150671936, 150671941-150671945, 150671956-150672002, 150674965-150675001
524	PRKAG2	7	0.99941520467836	1	1710	151269757
525	SHH	7	0.99568034557235	6	1389	155595596, 155595777-155595781
526	MNX1	7	0.88474295190713	139	1206	156799288-156799291, 156802659-156802760, 156802779-156802783, 156802797-156802813, 156802844, 156802857, 156802899-156802907
527	GATA4	8	0.99247554552295	10	1329	11565909-11565910, 11607662-11607664, 11607672-11607676
528	ASAH1	8	0.99915824915825	1	1188	17915131
529	NEFL	8	0.99877450980392	2	1632	24813415-24813416
530	FGFR1	8	0.98700771416971	32	2463	38275885-38275888, 38285910-38285937
531	ADAM9	8	0.99512195121951	12	2460	38959389-38959395, 38959403, 38961216-38961219
532	ANK1	8	0.99947312961012	3	5694	41550362-41550364
533	THAP1	8	0.99688473520249	2	642	42693202, 42693242
534	CHD7	8	0.9996664442962	3	8994	61655092, 61734592, 61749464
535	TMEM67	8	0.9946452476573	16	2988	94768082-94768085, 94768094, 94777692-94777696, 94777852-94777854, 94777870-94777872
536	GDF6	8	0.99561403508772	6	1368	97157416-97157421
537	VPS13B	8	0.99666499916625	40	11994	100123392-100123393, 100123423-100123452, 100146872, 100160139-100160140, 100160143, 100514006, 100514011-100514012, 100514029
538	KIAA0196	8	0.99971264367816	1	3480	126079844
539	KCNQ3	8	0.98281786941581	45	2619	133492735-133492779
540	TG	8	0.99987961959793	1	8307	133882071
541	CYP11B1	8	0.96097883597884	59	1512	143958288-143958294, 143958513-143958533, 143958572-143958602
542	CYP11B2	8	0.95965608465608	61	1512	143993988-143993994, 143994026-143994032, 143994101-143994108, 143994768-143994785, 143996536-143996556
543	PLEC	8	0.99124866595518	123	14055	144990455, 144994388-144994391, 144994394, 144995051-144995057, 144995512-144995517, 144995662, 144996242-144996260, 144996523-144996556, 144997837, 144997842, 144997885-144997891, 144997984-144997993, 144998911-144998937, 145003348, 145003353, 145003403, 145003406
544	GPT	8	0.99329309188464	10	1491	145730819, 145731268, 145732018-145732025
545	RECQL4	8	0.99421009098428	21	3627	145738734-145738740, 145738749-145738753, 145738768, 145738772-145738773, 145738776-145738781
546	KCNV2	9	0.98717948717949	21	1638	2718338, 2718757, 2718760-2718767, 2718962, 2718982-2718989, 2718993-2718994
547	GLIS3	9	0.99677765843179	9	2793	4117853, 4117856-4117858, 4118057-4118061
548	JAK2	9	0.98323036187114	57	3399	5077468, 5077477-5077498, 5077503-5077530, 5077569, 5077574, 5077577-5077580
549	TMC1	9	0.98072711344722	44	2283	75403371, 75403374, 75420371-75420412
550	VPS13A	9	0.97994750656168	191	9525	79820314, 79824399-79824401, 79824411-79824413, 79824417, 79840871, 79840874, 79842392, 79843061, 79843093, 79843107-79843112, 79843122-79843126, 79843152-79843180, 79891061, 79896783-79896786, 79896796-79896842, 79908362, 79908386-79908391, 79908400, 79910628, 79929027, 79929035, 79931189-79931190, 79932536-79932539, 79932542-79932547, 79932550, 79932557, 79932594-79932614, 79933447, 79933455-79933457, 79934491-79934500, 79952448, 79954775-79954782, 79996892-79996898, 79996905-79996911, 79996938, 79996965, 79996979
551	PTCH1	9	0.99976979742173	1	4344	98270643
552	FOXE1	9	0.96345811051693	41	1122	100616697-100616737
553	TGFBR1	9	0.96230158730159	57	1512	101867536-101867561, 101867571-101867577, 101900152-101900159, 101910007-101910022
554	ABCA1	9	0.99985263778367	1	6786	107576468
555	FKTN	9	0.9992784992785	1	1386	108380341
556	DFNB31	9	0.99082232011747	25	2724	117266936, 117266996-117267019
557	NR5A1	9	0.9992784992785	1	1386	127245174
558	LMX1B	9	0.98748882931189	14	1119	129376831-129376844
559	STXBP1	9	0.99889624724062	2	1812	130374683, 130374689
560	ENG	9	0.99898836621143	2	1977	130588028, 130588036
561	TOR1A	9	0.998998998999	1	999	132586199
562	SETX	9	0.99788399302962	17	8034	135139870-135139884, 135139887, 135202224
563	CEL	9	0.84896521356231	343	2271	135944521-135944528, 135944582-135944589, 135945985-135946018, 135946653, 135946658, 135946675-135946702, 135946708-135946969, 135946986
564	SURF1	9	0.99778516057586	2	903	136223304, 136223307
565	ADAMTS13	9	0.98179271708683	78	4284	136293768-136293778, 136293790-136293853, 136293879-136293881
566	COL5A1	9	0.98350552836687	91	5517	137534041-137534074, 137534082-137534137, 137726997
567	LHX3	9	0.98759305210918	15	1209	139090796-139090797, 139090800-139090805, 139090854, 139090873, 139090893, 139094833-139094835, 139094847
568	INPP5E	9	0.97260981912145	53	1935	139326276-139326280, 139327011-139327037, 139333317-139333321, 139333329-139333340, 139333343-139333346
569	NOTCH1	9	0.99569640062598	33	7668	139391820, 139440188-139440198, 139440208-139440228
570	AGPAT2	9	0.97132616487455	24	837	139581738-139581740, 139581744, 139581750, 139581754, 139581763-139581770, 139581776, 139581781-139581788, 139581791
571	SLC34A3	9	0.98666666666667	24	1800	140128319-140128324, 140128329-140128330, 140128334-140128336, 140128351, 140128593-140128594, 140128604, 140128606, 140128610-140128617
572	GPR143	X	0.9921568627451	10	1275	9707664, 9709433-9709434, 9709438, 9709444-9709447, 9733695, 9733747
573	OFD1	X	0.99605133267522	12	3039	13780490-13780501
574	SMS	X	0.96639418710263	37	1101	21958949-21958967, 21958976-21958991, 21985337, 21985340
575	ARX	X	0.88869153345175	188	1689	25031264-25031292, 25031381-25031385, 25031462-25031463, 25031466, 25031473, 25031529-25031574, 25031643-25031697, 25031712-25031715, 25031718-25031722, 25031768-25031769, 25031772-25031809
576	GK	X	0.99939831528279	1	1662	30725712
577	DMD	X	0.9994574064026	6	11058	31645945-31645946, 32383304, 32398750-32398751, 32404443
578	RPGR	X	0.87684301821336	426	3459	38145317-38145375, 38145383-38145446, 38145453-38145755
579	NYX	X	0.98340248962656	24	1446	41332929-41332935, 41333091-41333100, 41333156, 41333234, 41333299, 41333321, 41333463, 41333545, 41333927
580	ZNF674	X	0.99942726231386	1	1746	46360534
581	RP2	X	0.99905033238367	1	1053	46739175
582	CFP	X	0.99148936170213	12	1410	47485727-47485735, 47488923, 47488981, 47489004
583	ZNF81	X	0.99798590130916	4	1986	47747409-47747412
584	WAS	X	0.98807157057654	18	1509	48547187-48547194, 48547204-48547210, 48547255-48547256, 48547261
585	CACNA1F	X	0.99983147960903	1	5934	49086935
586	FGD1	X	0.997227997228	8	2886	54494249-54494254, 54497144-54497145
587	AR	X	0.97140788997467	79	2763	66765157-66765205, 66766196, 66766362, 66766365-66766390, 66942766-66942767
588	OPHN1	X	0.99958488999585	1	2409	67412825
589	DLG3	X	0.99837000814996	4	2454	69665282-69665285
590	MED12	X	0.99770431588613	15	6534	70338631-70338633, 70338655, 70338700-70338703, 70349619-70349621, 70360663-70360665, 70361106
591	GJB1	X	0.99765258215962	2	852	70444392, 70444396
592	TAF1	X	0.97289686730025	154	5682	70586165-70586263, 70586270-70586277, 70586296, 70586299, 70586313-70586344, 70602927-70602939
593	SLC16A2	X	0.97774158523344	41	1842	73641368-73641407, 73641466
594	ABCB7	X	0.99690539345712	7	2262	74293538-74293543, 74293567
595	ATP7A	X	0.99955585165445	2	4503	77276522, 77276525
596	BRWD3	X	0.99242004067295	41	5409	79952325, 79991557, 79991580-79991587, 80064940-80064970
597	CHM	X	0.99847094801223	3	1962	85282529, 85282543-85282544
598	PCDH19	X	0.99969751966122	1	3306	99663409
599	COL4A5	X	0.9992091735864	4	5058	107834419-107834422
600	XIAP	X	0.99866131191432	2	1494	123025097, 123025106
601	SLC9A6	X	0.99762583095916	5	2106	135104755-135104758, 135104842
602	ZIC3	X	0.97364672364672	37	1404	136651105, 136651129-136651164
603	SOX3	X	0.98956002982849	14	1341	139585949-139585951, 139586149, 139586493, 139586508, 139586511-139586513, 139586692-139586696
604	FMR1	X	0.98525539757767	28	1899	147009840-147009867
605	MTM1	X	0.98896247240618	20	1812	149807449-149807468
606	SLC6A8	X	0.88259958071279	224	1908	152954047-152954249, 152958538-152958546, 152959470-152959472, 152959701, 152960206, 152960547-152960553
607	ABCD1	X	0.93699731903485	141	2238	153008473-153008516, 153008675-153008678, 153008705-153008715, 153008785-153008791, 153008944-153008946, 153008981-153008987, 153009014-153009033, 153009111-153009155
608	MECP2	X	0.95724782899132	64	1497	153296186-153296187, 153363061-153363122
609	OPN1LW	X	0.94246575342466	63	1095	153416312-153416318, 153416343-153416365, 153418521-153418544, 153421912, 153421916, 153421966-153421972
610	OPN1MW	X	0.97260273972603	30	1095	153448204, 153455651-153455668, 153458965, 153458971-153458972, 153458978, 153459096-153459102
611	OPN1MW	X	0.97534246575342	27	1095	153485322, 153492769-153492786, 153496121, 153496214-153496220
612	F8	X	0.99574829931973	30	7056	154157682-154157697, 154158016-154158029

Effect rank	Variant	Phase/ Zygosity	Allele freq	Impact	Evaluation	Summary / Info
3	CASP10-V410I	homozygous	0.031	Dominant protective	Low clinical importance, likely	Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).
3	CASP10-L522I	homozygous	0.309	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5	C3-P314L	het unknown	0.079	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2.5	C3-R102G	het unknown	0.053	Complex/Other pathogenic	Moderate clinical importance, likely	This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.
2.5	MUSK-S159G	het unknown	0.134	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
2.5	MUSK-V790M	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 6 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5	TP53-P72R	homozygous	0.550	Unknown pathogenic	Low clinical importance, uncertain	This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x increased risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x decreased risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
2	ALAD-K59N	het unknown	0.060	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
2	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.
2	NEFL-S472Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
2	SLCO1B1-N130D	homozygous	0.663	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
2	SLCO1B1-V174A	homozygous	0.097	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
2	ABCA4-D2177N	het unknown	0.008	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests
2	ABCA4-H423R	het unknown	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
2	LIG4-T9I	het unknown	0.132	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.966 (probably damaging)
2	LIG4-A3V	het unknown	0.023	Dominant protective	Low clinical importance, uncertain	One report has associated this with a decreased risk of multiple myeloma.
2	SEMA4A-R713Q	het unknown	0.062	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests
2	MTRR-I49M	homozygous	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.
2	MTRR-S202L	homozygous	0.285	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5	KCNJ11-V337I	homozygous	0.761	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5	KCNJ11-K23E	homozygous	0.711	Unknown protective	Low clinical importance, likely	This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.
1.25	SP110-M523T	homozygous	0.319	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25	SP110-L425S	het unknown	0.875	Unknown pathogenic	Low clinical importance, uncertain	This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
1.25	SP110-G299R	het unknown	0.822	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25	SP110-W112R	het unknown	0.945	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25	RNASEL-D541E	het unknown	0.470	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1.25	RNASEL-R462Q	het unknown	0.208	Complex/Other pathogenic	Low clinical importance, uncertain	Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.
1.25	LRP5-W211*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview
1.25	LRP5-A1330V	het unknown	0.120	Complex/Other pathogenic	Low clinical importance, uncertain	In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density.
1	B3GNT6-L316Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	B3GNT6-L335Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	BDNF-V148M	homozygous	0.208	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
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	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	MTHFD1-K134R	homozygous	0.846	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	MTHFD1-R653Q	homozygous	0.320	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign)
1	TIRAP-S180L	het unknown	0.073	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	ANKK1-A239T	het unknown	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.852 (probably damaging)
1	ANKK1-G318R	het unknown	0.165	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.006 (benign)
1	ANKK1-G442R	homozygous	0.541	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ANKK1-H490R	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
1	ANKK1-E713K	het unknown	0.347	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	NR_027242-C222Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027242-L114P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NR_027242-Q97Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027242-L22P	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZFYVE19-R48Shift	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZFYVE19-S376A	homozygous	0.814	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
1	KRT10-H487Y	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	KRT10-G126S	het unknown	0.109	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	KRT10-I101S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
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	KRT16-R41C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	MAPT-P202L	homozygous	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	MAPT-D285N	homozygous	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
1	MAPT-V289A	homozygous	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	MAPT-R370W	homozygous	0.116	Unknown benign	Low clinical importance, uncertain	Probably benign.
1	MAPT-S447P	homozygous	0.055	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	MAPT-GT539AA	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TGIF1-P83Shift	het unknown	0.139	Complex/Other pathogenic	Low clinical importance, uncertain	Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.
1	AP1S2-T35A	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	AP1S2-R29P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	PIK3R6-L609Shift	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	CHRNA5-D398N	het unknown	0.158	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign)
1	CILP-G1166S	het unknown	0.766	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CILP-Q979R	homozygous	0.986	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CILP-K575E	homozygous	0.974	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CILP-I395T	het unknown	0.491	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	CILP-R95Q	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	ZNF598-M637T	homozygous	0.601	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF598-A608T	homozygous	0.117	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF598-S453Y	homozygous	0.107	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 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	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	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	RNF207-N573S	homozygous	0.474	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	RNF207-G603A	homozygous	0.165	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign)
1	HABP2-T50M	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	ZNF167-N494Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ADD1-G460W	het unknown	0.232	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.995 (probably damaging)
1	ADD1-S617C	het unknown	0.334	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ADH1B-H48R	homozygous	0.678	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	AX746903-T82Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AK298931-E88Q	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	AK298931-W38*	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	AK298931-T4S	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	TTN-R30856H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I23649T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-A19840P	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-R9852H	het unknown	0.198	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-G9378R	het unknown	0.395	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S3419N	homozygous	0.850	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V3261M	homozygous	0.840	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S1295L	homozygous	0.881	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-K1201E	homozygous	0.519	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HNMT-T105I	het unknown	0.112	Complex/Other pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.821 (possibly damaging)
1	HRNR-Q2781H	homozygous	0.395	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-C1414Y	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-S799T	homozygous	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-F669S	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-D668C	het unknown	0.057	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-R664Q	het unknown	0.568	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-G492E	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	HRNR-G492R	het unknown	0.588	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-H491Y	het unknown	0.053	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-G490S	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	HRNR-E473G	homozygous	0.951	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-G427D	het unknown	0.357	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-Q376R	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-H273Q	het unknown	0.383	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-R85H	homozygous	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.078 (benign)
1	HRNR-M1Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	PADI6-V343Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	F5-Q534R	homozygous	0.991	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	MYOC-R76K	homozygous	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
1	CYP1B1-N453S	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1	CYP1B1-V432L	homozygous	0.547	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CHIT1-G102S	het unknown	0.268	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1	PCSK1-S690T	homozygous	0.218	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1	PCSK1-Q665E	homozygous	0.238	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	IL13-Q144R	homozygous	0.766	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	PLEKHA2-P389Shift	homozygous	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	TOR1A-D216H	het unknown	0.089	Unknown protective	Low clinical importance, likely	This SNP has been shown to be benign and play a protective role against Dystonia.
1	INSR-A2G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	CYP2C9-I359L	het unknown	0.016	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.048 (benign)
1	CUBN-T3422I	homozygous	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	CUBN-S2717W	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	CUBN-C2162Y	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	CUBN-S1935G	het unknown	0.127	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	CUBN-P1559S	homozygous	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	CUBN-P389T	homozygous	0.513	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	CUBN-F253S	het unknown	0.801	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	ATG9B-A765Shift	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	CUL7-Q813R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	BC040901-C89W	homozygous	0.706	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	BC040901-P93S	homozygous	0.548	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	BC040901-A106Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	EYS-R2326Q	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-L852P	het unknown	0.655	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-T120M	het unknown	0.165	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	AIM1-Q293P	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	AIM1-C491R	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.091 (benign)
1	AIM1-E1196A	homozygous	0.935	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.015 (benign)
1	AIM1-C1395Y	het unknown	0.243	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.958 (probably damaging)
1	ABCB1-S893A	het unknown	0.625	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ABCB1-N21D	het unknown	0.044	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	FAM20C-I320Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	FAM20C-R558W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	FAM20C-N564D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	POMT1-D411E	homozygous	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	NR_027052-R29H	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NR_027052-T53Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027052-Y63N	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF761-L47Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZNF761-I122S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF761-V168I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF761-G528S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF761-E603Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-DV772EL	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-E764Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCARF2-P747Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCARF2-A745Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCARF2-P174S	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	VSIG10L-Q860Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	VSIG10L-R592Q	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-M356I	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-N3T	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	DGKK-L1014Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KCNC3-D63G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	DLL3-L142Q	homozygous	0.020	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1	COL18A1-PGP1362Del	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	TCEAL6-Q175Shift	homozygous	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NUDT19-R142Q	homozygous	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
1	KRTAP7-1-Y17Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	FAM58A-Q15Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
1	FAM58A-G4Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
0.875	NPC1-S1123C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875	NPC1-W1122Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
0.875	NPC1-I858V	het unknown	0.480	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.875	NPC1-M642I	homozygous	0.863	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875	NPC1-H215R	het unknown	0.222	Complex/Other protective	Low clinical importance, likely	This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).
0.625	SYNE1-F7302V	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625	SYNE1-L5015M	het unknown	0.866	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625	SYNE1-S4596T	het unknown	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625	SYNE1-K4121R	het unknown	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625	SYNE1-E4060D	het unknown	0.539	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.625	SYNE1-H2558Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
0.625	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.
0.625	BRCA2-V2466A	homozygous	0.954	Dominant benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PEX2-C184R	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC30A8-R325W	het unknown	0.225	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	SLC18A1-L392V	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	SLC18A1-I136T	het unknown	0.788	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PCM1-M597V	homozygous	0.733	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	PCM1-R1251H	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	MCPH1-R171S	homozygous	0.865	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-D314H	homozygous	0.648	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-D392G	homozygous	0.979	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-A761V	homozygous	0.504	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-P828S	het unknown	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALK-I1461V	homozygous	0.982	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A2-A68V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GGH-A31T	het unknown	0.198	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	GGH-C6R	het unknown	0.088	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NR_027251-H75Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CNGB3-T298P	het unknown	0.681	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLCO5A1-R375Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	SLCO5A1-L33F	het unknown	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	COL6A2-S399N	homozygous	0.727	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A2-R680H	het unknown	0.389	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	THADA-C1605Y	het unknown	0.137	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.387 (possibly damaging)
0.5	THADA-T1385S	het unknown	0.180	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	THADA-T1187A	het unknown	0.149	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.384 (possibly damaging)
0.5	CCM2-V53I	het unknown	0.053	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CCM2-V120I	het unknown	0.091	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	EGFR-R521K	het unknown	0.259	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ELN-G422S	homozygous	0.225	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RANBP2-S255N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	RANBP2-I2803V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NR_024390-W43*	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	NR_024390-A104P	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	GLI2-A1156S	homozygous	0.536	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GLI2-D1306N	homozygous	0.595	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NPHP1-P39T	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.052 (benign), Testable gene in GeneTests with associated GeneReview
0.5	EPDR1-A36Shift	het unknown	0.012	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	COL1A2-P549A	homozygous	0.907	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-N1786D	het unknown	0.008	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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TRMT12-W28R	het unknown	0.615	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TRMT12-D195Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	TRMT12-D195E	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.015 (benign)
0.5	LRGUK-R433C	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	CLCN1-G118W	homozygous	0.995	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CLCN1-P727L	het unknown	0.325	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RELN-V2092M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	RELN-V1762I	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.813 (possibly damaging), Testable gene in GeneTests
0.5	MBLAC1-S43C	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.902 (probably damaging)
0.5	BAIAP2L1-E216K	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.906 (probably damaging)
0.5	CYP3A7-R409T	homozygous	0.669	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CYP3A43-Y25Shift	het unknown	0.148	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.5	CYP3A43-P340A	het unknown	0.215	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.925 (probably damaging)
0.5	PLEC-GS4647VT	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-T4044M	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-R2969H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-S2791P	het unknown	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-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-V991L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 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	C2orf71-S1225SS	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	C2orf71-L792V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	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	RBP3-R346H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	EPHX1-Y113H	het unknown	0.290	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging)
0.5	EPHX1-H139R	het unknown	0.210	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	MTR-R52Q	het unknown	0.002	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MTR-G90E	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MTR-G90E	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RYR2-Q2958R	homozygous	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TPO-A373S	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	TPO-S398T	homozygous	0.684	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5	TPO-V847A	het unknown	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	COL5A1-G530S	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL5A1-N951S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AK094914-K152N	het unknown		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	CHAT-D400N	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	CHAT-V461M	homozygous	0.927	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PCDH15-R934Q	het unknown	0.283	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PCDH15-N642S	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PCDH15-S19A	het unknown	0.174	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GPATCH2-M474V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	COL17A1-M703V	het unknown	0.672	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-G428S	homozygous	0.771	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-T210M	het unknown	0.557	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-M3868V	het unknown	0.131	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-E3411A	het unknown	0.638	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-I2106T	het unknown	0.629	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-R1486K	homozygous	0.646	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ZFYVE27-V82I	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ZFYVE27-G138V	homozygous	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DRD3-G9S	homozygous	0.482	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CDH23-N1349D	homozygous	0.772	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-A1572T	homozygous	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-T1996S	het unknown	0.248	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-E2041K	het unknown	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-R2355Q	het unknown	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-P2377L	het unknown	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	ANXA11-L337Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ANXA11-R191Q	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	RGR-S245F	het unknown	0.044	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ADAMTS13-R7W	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ADAMTS13-Q448E	het unknown	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ADAMTS13-P618A	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5	REXO4-T283A	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.957 (probably damaging)
0.5	REXO4-R141K	het unknown	0.097	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GCKR-L446P	het unknown	0.673	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	ROR2-V819I	homozygous	0.798	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ROR2-T245A	homozygous	0.619	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	IPPK-L376F	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.865 (probably damaging)
0.5	TAF1L-M371V	het unknown	0.038	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	DOCK8-A22V	het unknown	0.291	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5	DOCK8-D63N	het unknown	0.079	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5	DOCK8-P97T	het unknown	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5	DOCK8-A597V	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5	SCRIB-H1217P	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.949 (probably damaging)
0.5	SCRIB-L984V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SCRIB-V674E	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	SCRIB-A551T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SCRIB-P422L	het unknown	0.516	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.998 (probably damaging)
0.5	GARS-P42A	homozygous	0.654	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	FKTN-R203Q	homozygous	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.5	APOB-S4338N	homozygous	0.725	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	APOB-E4181K	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	APOB-I2313V	het unknown	0.964	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	APOB-Y1422C	homozygous	0.994	Unknown benign	Low clinical importance, uncertain	This position is almost certainly an error in the HG18 reference sequence.
0.5	APOB-T98I	het unknown	0.149	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	TTF1-A885V	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MATN3-R391C	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CBR3-V244M	homozygous	0.398	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.014 (benign)
0.5	TTC3-M840T	het unknown	0.646	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TTC3-R924H	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	TTC3-D1751H	het unknown	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DFNB31-V783A	het unknown	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-H752Q	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-M613T	het unknown	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-R364H	homozygous	0.968	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDK5RAP2-V1540L	homozygous	0.714	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDK5RAP2-E289Q	het unknown	0.801	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ZBTB26-S158Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CLDN20-G94E	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	DNAH11-E34L	het unknown	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-V1023A	het unknown	0.193	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T1038A	homozygous	0.747	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-A3474T	het unknown	0.501	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-V3715L	het unknown	0.452	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-M4172V	homozygous	0.334	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T4177I	homozygous	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CFI-T300A	homozygous	0.957	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNPO2-R147Del	homozygous	0.273	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SYNPO2-G154A	het unknown	0.236	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.135 (benign)
0.5	SYNPO2-T573A	homozygous	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	DNAJB7-E41A	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.957 (probably damaging)
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	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	AGPAT9-R386K	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	ABCG2-Q141K	het unknown	0.131	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.548 (possibly damaging)
0.5	TET2-P29R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	TET2-L1721W	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.032 (benign)
0.5	FAT1-S4542Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	FAT1-S4542Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	FAT1-K4059N	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT1-S3554A	het unknown	0.595	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT1-Q2933P	homozygous	0.695	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT1-I2718V	het unknown	0.061	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT1-H1273R	homozygous	0.697	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT1-R1064G	homozygous	0.752	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT1-V862L	homozygous	0.671	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT1-F614L	homozygous	0.685	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT1-V482I	homozygous	0.297	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT1-S404R	homozygous	0.354	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 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	GPR98-L1093F	het unknown	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-V1951I	het unknown	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: 3 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-N2345S	het unknown	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-N2584S	het unknown	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-A3217V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-E3471K	het unknown	0.834	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-E3867K	het unknown	0.356	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-E5344G	homozygous	0.903	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-V5427M	homozygous	0.918	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-V5876I	het unknown	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	COL6A3-T3069I	homozygous	0.364	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-A3012P	homozygous	0.843	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-M2927T	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMXL1-M1589V	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.984 (probably damaging)
0.5	AP3B1-V585E	homozygous	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CCNO-I219Shift	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	homozygous	0.450	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-L2862F	het unknown	0.212	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-I766L	het unknown	0.404	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-T558A	het unknown	0.395	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-G24E	homozygous	0.496	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-H12Q	homozygous	0.896	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TMEM43-K168N	homozygous	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.5	TMEM43-M179T	homozygous	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCD2-G901V	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FAM175A-D373N	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.899 (probably damaging)
0.5	FAM175A-A348T	het unknown	0.375	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.16 (benign)
0.5	UGT2B15-Y85D	homozygous	0.500	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	IDUA-H33Q	homozygous	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5	IDUA-R105Q	het unknown	0.147	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5	IDUA-A361T	het unknown	0.204	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	IDUA-V454I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GBE1-I334V	homozygous	0.979	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CPN2-V536M	het unknown	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.935 (probably damaging), 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	CPN2-Q509R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CPN2-A305T	het unknown	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests
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	CASR-A986S	het unknown	0.070	Unknown benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5	CASR-R990G	het unknown	0.199	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
0.5	CASR-E1011Q	homozygous	0.916	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CEP63-Q185H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	CEP63-S651L	het unknown	0.329	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.027 (benign)
0.5	NDUFB5-T34P	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	ATXN7-V862M	homozygous	0.485	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	EVC-Y258H	homozygous	0.721	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5	EVC-T449K	homozygous	0.871	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EVC-R576Q	homozygous	0.274	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5	KAL1-V534I	homozygous	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC30A9-M50V	homozygous	0.555	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	SLC30A9-P52S	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	SLC30A9-T97A	homozygous	0.987	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CCBP2-V41A	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.97 (probably damaging)
0.5	N4BP2-S101I	het unknown	0.109	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.127 (benign)
0.5	N4BP2-D611N	homozygous	0.817	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	N4BP2-E861V	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	TLR6-S249P	homozygous	0.855	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	WFS1-V333I	homozygous	0.889	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WFS1-R456H	het unknown	0.065	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	WFS1-R611H	het unknown	0.442	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	ABHD14A-R32Q	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging)
0.5	TLR1-S602I	homozygous	0.727	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TLR1-N248S	homozygous	0.643	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	ALDH7A1-K439Q	het unknown	0.072	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	FBN2-A68V	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-Q4048R	homozygous	0.566	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-Q3899R	homozygous	0.546	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-L1870V	homozygous	0.905	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	EFHC1-I619L	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5	DFNB59-R265C	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
0.5	ENPP5-I171V	het unknown	0.384	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.139 (benign)
0.5	ENPP5-R39P	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	ENPP5-L6I	het unknown	0.384	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
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	TULP1-K261N	het unknown	0.805	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TULP1-T67R	homozygous	0.877	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BC112980-K147Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DNAH7-L3319P	homozygous	0.914	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DNAH7-I1020T	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	DNAH7-R545C	het unknown	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.02 (benign)
0.5	DNAH7-M380R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	ABCB11-V444A	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MYO6-T845I	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC22A2-S270A	homozygous	0.876	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PRODH-R521Q	homozygous	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRODH-W185R	homozygous	0.826	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRODH-P30S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRODH-P19Q	het unknown	0.562	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	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-D70G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WDR11-E988K	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.97 (probably damaging)
0.5	HIVEP2-L1538P	homozygous	0.972	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HIVEP2-Y1242C	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	LCA5-G656D	het unknown	0.377	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LCA5-D26A	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	LCA5-L24S	homozygous	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SCN9A-W1150R	het unknown	0.896	Dominant benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCN9A-R1110Q	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	ALS2-V368M	homozygous	0.869	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NOTCH4-G835V	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	COL4A3-G43R	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-L141P	homozygous	0.760	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-E162G	homozygous	0.764	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-D326Y	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-R408H	het unknown	0.064	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-H451R	het unknown	0.090	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-S1147F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KIF4B-R580L	het unknown	0.685	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KIF4B-R680H	het unknown	0.176	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
0.5	KIF4B-V755I	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.877 (probably damaging)
0.5	KIF4B-I834Shift	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	KIF4B-K851E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	KIF4B-R1029H	het unknown	0.119	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.043 (benign)
0.5	NIPAL4-S453L	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	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	ADRB2-E27Q	het unknown	0.773	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	ISX-S28G	homozygous	0.810	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ISX-P57S	het unknown	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.004 (benign)
0.5	ISX-R83Q	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	ISX-T182M	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	DMD-R2937Q	homozygous	0.899	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMD-Q2574H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMD-R1745H	het unknown	0.387	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	DMD-D882G	het unknown	0.727	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMD-T630A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMD-I585S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AX746964-G175Shift	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SOX30-C55R	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.996 (probably damaging)
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	OBSL1-R1767Q	homozygous	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	ABCA12-S777T	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-G3212V	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-R1414Q	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-L-H17R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HLA-L-I30V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HLA-L-R38Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	HLA-L-A142V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HLA-L-W144*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	HLA-L-C172Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	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-G109S	het unknown	0.208	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-R141Q	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-S182W	het unknown	0.392	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-P226L	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-C238S	het unknown	0.729	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	NEFH-P562A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NEFH-P615L	het unknown	0.167	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (probably damaging)
0.5	NEFH-A672E	het unknown	0.013	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.889 (probably damaging)
0.5	NEFH-E805A	het unknown	0.110	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BTN2A2-A4V	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	BTN2A2-P39A	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	BTN2A2-S432T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	BTN2A2-K513T	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	AVPI1-A41G	het unknown	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AVPI1-L36R	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.924 (probably damaging)
0.5	PTPN22-W620R	het unknown	0.970	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	CD19-L174V	homozygous	0.876	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CD2BP2-T88S	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	SALL1-V1275I	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SH2B1-T484A	het unknown	0.217	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	LRP8-R952Q	het unknown	0.130	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	LRP8-D46E	homozygous	0.621	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DKC1-K505Del	het unknown	0.011	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LEPR-K656N	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.5	ABCC6-M848V	homozygous	0.954	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ABCC6-R265G	het unknown	0.073	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RBL2-Y210C	het unknown	0.085	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.125 (benign)
0.5	RBL2-E575Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	RPGRIP1L-R744Q	het unknown	0.071	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	LRRC50-D387E	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.951 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	CYBA-V174A	het unknown	0.417	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CYBA-Y72H	het unknown	0.649	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ANKRD11-P2263S	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.979 (probably damaging)
0.5	ANKRD11-A2023P	het unknown	0.036	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ANKRD11-S1161*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	ANKRD11-A971V	het unknown	0.551	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TOE1-V36I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TOE1-R341H	het unknown	0.013	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
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	CPT2-V368I	het unknown	0.477	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CPT2-M647V	het unknown	0.093	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	NQO1-P187S	het unknown	0.283	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.215 (possibly damaging)
0.5	SPATA6-E228K	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	DPYD-I543V	het unknown	0.199	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	VASN-R161Q	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.862 (probably damaging)
0.5	VASN-E384A	het unknown	0.687	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.172 (benign)
0.5	ARMS2-A69S	het unknown	0.294	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	NR2E3-T318Shift	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift, Testable gene in GeneTests
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	MGA-T716S	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MGA-C1270R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	CHIA-N45D	het unknown	0.150	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CHIA-D47N	het unknown	0.150	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.008 (benign)
0.5	CHIA-R61M	het unknown	0.155	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CHIA-I339V	het unknown	0.664	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CHIA-F354S	het unknown	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (probably damaging)
0.5	CHIA-F377L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.956 (probably damaging)
0.5	CHIA-V432G	het unknown	0.635	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NM_001080841-R42C	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NM_001080841-R85C	het unknown	0.209	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NM_001080841-R102*	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	ACPT-P95L	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.994 (probably damaging)
0.5	KIAA1324-H55Y	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	KIAA1324-I86V	homozygous	0.988	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KIAA1324-T623P	het unknown	0.686	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KIAA1324-L1009P	homozygous	0.878	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HEXA-I436V	homozygous	0.748	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HEXA-N196S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BCAM-R77H	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5	BCAM-V196I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	BCAM-T539A	het unknown	0.261	Unknown benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	EME2-Q387*	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	ZNF224-M118V	homozygous	0.793	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF224-H162L	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging)
0.5	ZNF224-K640E	homozygous	0.593	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	DBT-S384G	homozygous	0.869	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCI-A86V	het unknown	0.219	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCI-C742S	het unknown	0.234	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCI-I877L	het unknown	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LOXL1-G153D	het unknown	0.269	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.135 (benign)
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	homozygous	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	COL11A1-S1547P	homozygous	0.752	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL11A1-P1335L	homozygous	0.479	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AGBL1-R112C	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.928 (probably damaging)
0.5	AGBL1-S435P	het unknown	0.116	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.354 (possibly damaging)
0.5	AGBL1-Q1010R	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PRX-G1132R	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRX-P850A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRX-A244V	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview
0.5	TMEM54-L110F	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.926 (probably damaging)
0.5	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	MTHFR-E429A	het unknown	0.243	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5	ATP8B1-A1152T	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AATK-F1266S	het unknown	0.404	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.981 (probably damaging)
0.5	AATK-G703C	het unknown	0.307	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.044 (benign)
0.5	AATK-G486Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	AATK-G484Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	GAA-H199R	homozygous	0.574	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GAA-R223H	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GAA-V780I	homozygous	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CROCC-R7G	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CROCC-A439V	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	CROCC-P493L	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	CROCC-P511S	het unknown	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.94 (probably damaging)
0.5	CROCC-V1110M	het unknown	0.066	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.18 (benign)
0.5	CROCC-R1124Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CROCC-T1361A	het unknown	0.096	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CROCC-G1471R	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CROCC-S1744G	het unknown	0.199	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CLCNKA-R83G	homozygous	0.653	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKA-Y315F	het unknown	0.222	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKA-A447T	homozygous	0.688	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKA-T454A	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKA-V457I	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKA-R534W	het unknown	0.018	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	RNF157-G208R	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.859 (probably damaging)
0.5	CD226-S307G	het unknown	0.423	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
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	ADAMTS10-H1101Q	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ADAMTS10-T134S	homozygous	0.910	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	TYK2-V362F	homozygous	0.268	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5	QTRT1-S129F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.983 (probably damaging)
0.5	MASP2-D371Y	homozygous	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MASP2-D120G	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	RNASEH2A-L202S	het unknown	0.059	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DOT1L-G1386S	het unknown	0.384	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DOT1L-V1418L	het unknown	0.266	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DOT1L-G1443C	het unknown	0.013	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (probably damaging)
0.5	VMAC-R109H	het unknown	0.018	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging)
0.5	NOTCH3-A2223V	homozygous	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TSEN54-E4D	homozygous	0.675	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TSEN54-K347N	homozygous	0.430	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	TSEN54-A437V	homozygous	0.515	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	DNAI2-A558T	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LSR-R519RR	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LSR-E645Q	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.877 (probably damaging)
0.5	CCDC55-K86T	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.932 (probably damaging)
0.5	GPR179-K1150E	het unknown	0.283	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GPR179-R884W	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	HSPG2-G2950R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-I2038M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-A1503V	homozygous	0.777	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-N765S	homozygous	0.896	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-M638V	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DNAH2-T3600I	homozygous	0.622	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DNAH2-P4325R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	NLRP1-M1184V	homozygous	0.433	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NLRP1-V1059M	homozygous	0.165	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.006 (benign)
0.5	NLRP1-L155H	homozygous	0.120	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.064 (benign)
0.5	SYTL1-G365D	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	SYTL1-Q444R	homozygous	0.440	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SEPN1-C108Y	het unknown	0.789	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SEPN1-N467K	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDA-K27Q	homozygous	0.190	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ALDH4A1-P16L	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CPAMD8-T1315I	het unknown	0.698	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CPAMD8-P783H	homozygous	0.255	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CPAMD8-H593R	het unknown	0.639	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CPAMD8-D586E	het unknown	0.380	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CPAMD8-V369M	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CPAMD8-V355I	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CPAMD8-R341Q	het unknown	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.814 (possibly damaging)
0.5	CPAMD8-R341W	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	CPAMD8-M312T	homozygous	0.733	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ATP13A2-V467Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
0.5	SCN4A-S906T	het unknown	0.008	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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ABCC3-R1297H	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	COL1A1-T1075A	homozygous	0.961	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	JUP-M697L	homozygous	0.520	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRCA1-S1634G	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRCA1-K1183R	het unknown	0.302	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRCA1-E1038G	het unknown	0.265	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	BRCA1-P871L	het unknown	0.555	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRCA1-D693N	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ADAM11-L93S	het unknown	0.615	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ADAM11-R141*	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	ADAM11-A226T	het unknown	0.610	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ADAM11-P255S	het unknown	0.619	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GNGT2-Q17R	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	SLC28A2-P22L	homozygous	0.248	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC28A2-S75R	homozygous	0.253	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	KRT4-G160GAGGFGAGFGTGGFG	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DCP1B-N195D	het unknown	0.021	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.859 (probably damaging)
0.5	GALNT8-Y53D	het unknown	0.422	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GALNT8-G245E	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	GALNT8-E267G	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.049 (benign)
0.5	GALNT8-V515F	het unknown	0.362	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.131 (benign)
0.5	CLECL1-S52Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	WNK1-T665I	het unknown	0.067	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-T1056P	homozygous	0.838	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-C1506S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-M1808I	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LAMC2-M1R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LAMC2-T124M	het unknown	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	C20orf54-I303V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	C20orf54-P267L	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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DEFB126-P106Shift	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	RAB40A-H45L	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.907 (probably damaging)
0.5	SLCO1B3-S112A	homozygous	0.646	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SLCO1B3-M233I	homozygous	0.659	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.131 (benign)
0.5	SLCO1B3-G256A	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.981 (probably damaging)
0.5	HTR2C-C23S	het unknown	0.191	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.004 (benign)
0.5	DDR2-M441I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT74-T503A	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	KRT74-E271D	homozygous	0.792	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.017 (benign)
0.5	KRT74-D225V	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	KRT74-L178Q	het unknown	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KRT83-H493Y	het unknown	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT83-I279M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT83-R149C	het unknown	0.141	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MLL2-P813L	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5	LRRK2-R50H	homozygous	0.927	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRK2-M2397T	het unknown	0.526	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	AMPD1-K287I	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5	PANK2-G126A	homozygous	0.917	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATM-N1983S	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH1C-E819D	homozygous	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC6A5-G102S	het unknown	0.420	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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: 2 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5	OGFR-D40G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	OGFR-R250Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	OGFR-S519L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.495 (possibly damaging)
0.5	OGFR-G658R	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.824 (possibly damaging)
0.5	ABCC8-A1369S	homozygous	0.755	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CR1L-R97C	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.933 (probably damaging)
0.5	CR1L-R116G	het unknown	0.530	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CR1L-I139V	het unknown	0.146	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.089 (benign)
0.5	CR1L-C207Y	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	CR1L-G263V	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CR1L-I455V	het unknown	0.653	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CR1L-L491P	het unknown	0.333	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.065 (benign)
0.5	CUZD1-I285T	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.984 (probably damaging)
0.5	H19-G355R	homozygous	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	H19-V94I	homozygous	0.361	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	H19-W38R	homozygous	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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
0.5	SBF2-E679K	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PDHX-V326L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.576 (possibly damaging), Testable gene in GeneTests
0.5	ALX4-P102S	homozygous	0.217	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALX4-R35T	homozygous	0.393	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	SPTBN2-R1880H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SPTBN2-L1188E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SPTBN2-V1034A	het unknown	0.204	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5	SPTBN2-S825G	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ASPM-Q2620H	het unknown	0.025	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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYO7A-L16S	het unknown	0.550	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYO7A-S1666C	homozygous	0.610	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MAP3K11-R730H	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.91 (probably damaging)
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	PEX16-V116I	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WFDC3-R63L	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	WFDC3-H36D	homozygous	0.670	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.207 (possibly damaging)
0.5	MEN1-T546A	homozygous	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATP7A-E1350K	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	COL2A1-T9S	homozygous	0.598	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HTR2A-H452Y	het unknown	0.098	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.489 (possibly damaging)
0.5	ZNF528-G443A	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.969 (probably damaging)
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	DOCK9-A435V	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	DOCK9-R18W	het unknown	0.044	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	DIAPH3-P588L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	SUCLA2-S199T	homozygous	0.722	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-T65I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-L153M	het unknown	0.182	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-I230T	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-A233S	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-M236V	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	RDH12-R161Q	het unknown	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	SYNE2-M1969T	homozygous	0.637	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5	SYNE2-A2284V	homozygous	0.637	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5	SYNE2-S2359N	homozygous	0.676	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5	SYNE2-A2395T	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SYNE2-S2802G	homozygous	0.864	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5	SYNE2-I2942V	homozygous	0.622	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SYNE2-D3253H	homozygous	0.684	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5	FLG-E2652D	homozygous	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	FLG-E2074Q	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R971H	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-T581S	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ZNF880-V12M	het unknown	0.132	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF880-N106Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ZNF880-N140NN	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ZNF880-Y150C	het unknown	0.173	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF880-R198S	het unknown	0.354	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF880-N202H	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF880-K471R	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TEP1-S1195P	homozygous	0.703	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-R1055C	homozygous	0.631	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-N307K	het unknown	0.369	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-S116P	het unknown	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NR_028064-G139Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NR_028064-H49Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ADPRHL1-T163I	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	CCDC63-Y303F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.996 (probably damaging)
0.5	ADAMTSL4-A193P	het unknown	0.625	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ADAMTSL4-S268F	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.961 (probably damaging)
0.5	PGLYRP3-G126S	het unknown	0.475	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.997 (probably damaging)
0.5	PGLYRP3-R68Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	SEC22B-L39Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	B3GALTL-E370K	homozygous	0.612	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5	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	ZBTB7B-P190S	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.932 (probably damaging)
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	DDX55-V101L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.939 (probably damaging)
0.5	DDX55-N264S	het unknown	0.197	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	het unknown	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
0.375	COL9A3-R103Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	COL9A3-A435E	het unknown	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375	FUT6-R303G	het unknown	0.107	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.725 (possibly damaging)
0.375	FUT6-P124S	homozygous	0.496	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.614 (possibly damaging)
0.375	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
0.375	SACS-A2510T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	OTOF-V575M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	OTOF-R82C	het unknown	0.229	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.375	CPS1-G150E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	CPS1-T344A	het unknown	0.583	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375	CPS1-T1406N	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	NAT2-I114T	het unknown	0.220	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.375	NAT2-R268K	het unknown	0.675	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NOTCH2-P210L	het unknown	0.333	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SCN1A-A1056T	het unknown	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TLR5-D846G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TLR5-F822L	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TLR5-I644F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TLR5-F616L	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.011 (benign)
0.25	TLR5-N592S	het unknown	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	TLR5-L487I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CCDC148-K516Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CCDC148-K329R	homozygous	0.969	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FAM104B-Q80*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	FAM104B-D75N	het unknown	0.171	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FAM104B-P63R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FAM104B-AS60ED	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FAM104B-I54L	het unknown	0.525	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-T43S	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DNAH14-F405L	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DNAH14-L828V	homozygous	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-K1010R	homozygous	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-R1011Q	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-N1099Y	het unknown	0.677	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-M1110I	homozygous	0.663	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-K1925Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	DNAH14-N2435S	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DNAH14-N3969K	homozygous	0.346	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-L4096P	homozygous	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-F4244C	homozygous	0.513	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NEB-I6534V	het unknown	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NEB-A6277P	het unknown	0.691	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NEB-R4389T	het unknown	0.724	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NEB-S2912P	het unknown	0.526	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NEB-K2613N	het unknown	0.138	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NEB-H1991Y	het unknown	0.194	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NEB-V1491M	het unknown	0.453	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NEB-V1479I	het unknown	0.422	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NEB-Y1301H	het unknown	0.668	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NEB-K1027N	het unknown	0.476	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SULT1C4-D5E	het unknown	0.371	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CCDC66-D5Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CCDC66-Q383R	homozygous	0.934	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CCDC66-R460Q	het unknown	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
0.25	CCDC66-S606SS	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CCDC66-E835V	het unknown	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.063 (benign)
0.25	CCDC66-L836S	het unknown	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	CFH-V62I	het unknown	0.495	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFH-H402Y	het unknown	0.818	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MYRIP-M65S	het unknown	0.109	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MYRIP-R66Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SLC16A2-S107P	het unknown	0.444	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	KCNQ4-H455Q	het unknown	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25	SELP-V640L	het unknown	0.295	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	SELP-D603N	het unknown	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	XDH-I1179T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	XDH-G172R	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25	KCNE4-G27Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	KCNE4-D145E	het unknown	0.638	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	LMNA-L15P	het unknown	0.227	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LMNA-M174T	het unknown	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL4A4-P1004L	het unknown	0.528	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL4A4-P482S	het unknown	0.493	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	C2orf83-W141*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	C2orf83-E104Q	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	WDR12-M227Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	WDR12-I75V	het unknown	0.046	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	LRP2-D4242G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	LRP2-I4210L	homozygous	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.993 (probably damaging)
0.25	LRP2-K4094E	het unknown	0.744	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	LRP2-A2872T	het unknown	0.327	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	LRP2-N83S	het unknown	0.306	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	CFHR1-H157Y	het unknown	0.169	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFHR1-L159V	het unknown	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFHR1-E175Q	het unknown	0.518	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MLH1-I219V	het unknown	0.124	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	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	F8-D1260E	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATG16L1-T300A	het unknown	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	ABCG8-Y54C	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25	ABCG8-P74A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ABCG8-V632A	het unknown	0.908	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	HMCN1-I2418T	het unknown	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25	HMCN1-E2893G	het unknown	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25	MGAM-N858D	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MGAM-K1099Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	DBH-A211T	het unknown	0.115	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DBH-A318S	het unknown	0.104	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
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	CELA1-L210Shift	het unknown	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.25	CELA1-M59V	het unknown	0.142	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging)
0.25	CELA1-Y5P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CELA1-V3Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	VWF-H484R	het unknown	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	VWF-V471I	het unknown	0.109	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SNX19-L878R	het unknown	0.808	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SNX19-N753S	het unknown	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SNX19-L618F	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SNX19-R362Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SNX19-V361L	het unknown	0.671	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	KRT5-D197E	het unknown	0.276	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25	MMAB-M239K	het unknown	0.469	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PYGL-V222I	het unknown	0.119	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	RPGRIP1-K192E	het unknown	0.446	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RPGRIP1-A547S	het unknown	0.164	Complex/Other benign	Low clinical importance, uncertain	Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.
0.25	RPGRIP1-E1033Q	het unknown	0.256	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATP7B-V1140A	het unknown	0.495	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATP7B-R952K	het unknown	0.481	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATP7B-K832R	het unknown	0.455	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	ATP7B-V456L	het unknown	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25	ATP7B-S406A	het unknown	0.355	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	ACADS-G209S	het unknown	0.128	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25	CPB2-I347T	het unknown	0.814	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CPB2-A169T	het unknown	0.345	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CPB2-I147Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ROBO3-G192S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ROBO3-V423M	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25	ROBO3-P868L	het unknown	0.286	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.074 (benign), Testable gene in GeneTests
0.25	CASP5-L347V	het unknown	0.622	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CASP5-T119A	homozygous	0.422	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CASP5-R23Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	BMPR1A-P2T	het unknown	0.549	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ERCC6-Q1413R	het unknown	0.145	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.25	ERCC6-R1213G	het unknown	0.159	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	ERCC6-M1097V	het unknown	0.153	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ANKRD30A-E110*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	ANKRD30A-P319A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ANKRD30A-T590I	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ANKRD30A-Q621E	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ANKRD30A-T768A	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ANKRD30A-E782G	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ANKRD30A-D785V	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ANKRD30A-N786K	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ANKRD30A-F789L	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	KCNE1-S38G	het unknown	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	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	CALHM1-L86P	het unknown	1.000	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 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	THBD-A473V	het unknown	0.117	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GTSF1L-A41V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	GTSF1L-N33Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	POLA2-G583R	het unknown	0.118	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.024 (benign)
0.25	USP47-L24Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	USP47-G75V	het unknown	0.858	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SLC22A20-E80K	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.046 (benign)
0.25	SLC22A20-M144I	het unknown	0.368	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.998 (probably damaging)
0.25	SLC22A20-W169*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	SLC22A20-L236V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLC22A20-E300Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLC22A20-T380I	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLC22A20-E453D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLC22A20-V504F	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SIX6-H141N	het unknown	0.314	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25	ZFYVE26-A2268T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ZFYVE26-N1891S	homozygous	0.900	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	RAI1-G90A	het unknown	0.281	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RAI1-P165T	het unknown	0.542	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	NPHS1-E117K	het unknown	0.297	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
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	CTNS-T260I	het unknown	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	KRT14-A94T	het unknown	0.269	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	KRT14-C63Y	het unknown	0.976	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	UQCRFS1-*275Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	UQCRFS1-P255T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	UQCRFS1-S6A	homozygous	0.935	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	STXBP2-I526V	het unknown	0.725	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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	ITGB4-L1779P	het unknown	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	IL12RB1-G378R	het unknown	0.329	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	IL12RB1-M365T	het unknown	0.297	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	IL12RB1-R283Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	IL12RB1-Q214R	het unknown	0.281	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	BRIP1-S919P	het unknown	0.652	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FANCA-G809D	het unknown	0.671	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FANCA-G501S	het unknown	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FANCA-T266A	het unknown	0.708	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	PKD1L2-M2313I	homozygous	0.883	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-S2207R	homozygous	0.985	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-S2137F	homozygous	0.870	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-L2117I	het unknown	0.248	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-Y2079Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	PKD1L2-A2054T	het unknown	0.185	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-Y2048S	het unknown	0.169	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-Q2035R	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-M1866V	homozygous	0.957	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-A1739V	het unknown	0.141	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-Y1699C	het unknown	0.198	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-M1645V	het unknown	0.195	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-D1632G	het unknown	0.055	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-Q1616R	het unknown	0.194	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-V1505M	het unknown	0.212	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-I1331V	homozygous	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-N1330D	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-S1326P	het unknown	0.734	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-T1048A	homozygous	0.679	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-M1042V	het unknown	0.461	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-R1040*	het unknown	0.407	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Nonsense mutation
0.25	PKD1L2-L1036P	het unknown	0.407	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-Q999H	het unknown	0.266	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-R998C	het unknown	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-A863V	het unknown	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-G785C	het unknown	0.193	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-L711P	het unknown	0.805	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-R636H	het unknown	0.134	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-P512L	het unknown	0.751	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-K416Q	het unknown	0.788	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-P301A	het unknown	0.524	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-R252W	het unknown	0.560	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-N236Shift	het unknown	0.389	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.25	PKD1L2-E221G	het unknown	0.708	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PKD1L2-V183I	het unknown	0.212	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SLC28A1-L140LV	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLC28A1-D521N	het unknown	0.226	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MYO9A-S1971L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MYO9A-Y1422Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	MYO9A-S1362P	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MYO9A-G1193E	homozygous	0.866	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ATXN3-V212M	het unknown	0.358	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PTPN21-R1088*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	PTPN21-V936A	homozygous	0.385	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PTPN21-L385F	homozygous	0.341	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	C14orf102-N1118S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C14orf102-S486Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	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
0.25	SIX5-P635S	het unknown	0.533	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	SIX5-L556V	het unknown	0.833	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LITAF-I92V	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DHODH-K7Q	het unknown	0.560	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.004 (benign)
0.25	GPR56-S281R	het unknown	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ITPRIPL2-L437Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ITPRIPL2-P522S	het unknown	0.064	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.716 (possibly damaging)
0.25	CYP2B6-Q172H	het unknown	0.295	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.009 (benign)
0.25	CYP2B6-K262R	het unknown	0.298	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MYH11-A1241T	het unknown	0.223	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25	HPS4-Q620H	het unknown	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	HPS4-H601Y	het unknown	0.807	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HPS4-V547M	het unknown	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HPS4-E224G	het unknown	0.779	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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
0.25	ATP10B-S575Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ATP10B-C217R	homozygous	0.877	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TCOF1-P1139R	het unknown	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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	MICA-A47T	het unknown	0.063	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-Y59C	het unknown	0.293	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-E148K	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MICA-V152M	het unknown	0.314	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-E196K	het unknown	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-S229G	het unknown	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-R233W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MICA-I236T	het unknown	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-R274Q	het unknown	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MICA-G318Shift	het unknown	0.163	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.25	HSPA1L-T493M	het unknown	0.868	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.25	ABO-V276M	homozygous	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ABO-F215I	homozygous	0.338	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ABO-W180*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	KIF6-W719R	het unknown	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.01 (benign)
0.25	FANCE-A502T	het unknown	0.214	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQA1-L8M	het unknown	0.457	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQA1-C34Y	het unknown	0.547	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQA1-F41S	het unknown	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQA1-T130I	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQA1-Q152H	het unknown	0.526	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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	COL11A2-E276K	het unknown	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	APC-V1822D	het unknown	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TRIOBP-S217N	het unknown	0.413	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25	TRIOBP-Q398Del	het unknown	0.308	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TRIOBP-K413R	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	TRIOBP-S493N	het unknown	0.139	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TRIOBP-T817S	het unknown	0.080	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.25	TRIOBP-N863K	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25	TRIOBP-F1187L	het unknown	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25	TRIOBP-H1300R	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25	TRIOBP-W1377R	homozygous	0.964	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25	SLC2A9-P350L	homozygous	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SLC2A9-R294H	het unknown	0.296	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25	SLC2A9-G25R	het unknown	0.358	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	DOK7-H113P	het unknown	0.183	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DOK7-R120Q	het unknown	0.146	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DOK7-T137I	het unknown	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DOK7-R38G	het unknown	0.208	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DOK7-R38G	het unknown	0.208	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DOK7-G461D	het unknown	0.128	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	EIF2B5-I587V	het unknown	0.370	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	ARSE-G424S	het unknown	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	UCHL1-S18Y	het unknown	0.111	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.029 (benign)
0.25	CNGA1-S3F	het unknown	0.401	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CNGA1-E2K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	GHR-I544L	het unknown	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25	MYO10-S1663T	homozygous	0.822	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MYO10-R1643*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	MYO10-R324W	homozygous	0.485	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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	UGT2B7-Y268H	het unknown	0.727	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	PEX6-P939Q	het unknown	0.339	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PCNT-G704E	homozygous	0.855	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PCNT-T879A	het unknown	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.25	PCNT-V1038A	homozygous	0.847	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PCNT-I1639V	het unknown	0.383	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PCNT-N1841S	het unknown	0.221	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PCNT-L2097P	het unknown	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	PCNT-H2125P	het unknown	0.310	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PCNT-M2188R	het unknown	0.186	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PCNT-W2239R	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	PCNT-H2247Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PCNT-Q2361R	het unknown	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25	PCNT-A2549T	het unknown	0.237	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25	PCNT-Q2792R	het unknown	0.732	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25	COL6A1-R850H	het unknown	0.264	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NOS3-D298E	het unknown	0.844	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MAN2B1-L278V	het unknown	0.236	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MUT-I671V	het unknown	0.522	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFTR-V470M	het unknown	0.621	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SLC19A1-H27R	het unknown	0.447	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign)
0.25	RP1-N985Y	het unknown	0.206	Unknown benign	Low clinical importance, uncertain	Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.
0.25	RP1-C2033Y	het unknown	0.186	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25	SIK1-G643Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SIK1-A615V	homozygous	0.854	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.011 (benign)
0.25	SIK1-G15S	het unknown	0.165	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	TMC1-E81K	het unknown	0.308	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TMC1-R141W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	FAM201A-G53D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FAM201A-Q115*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	TMEM67-I604V	het unknown	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TG-S734A	het unknown	0.698	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TG-M1028V	het unknown	0.696	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	TG-D1312G	het unknown	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TG-R1999W	homozygous	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TG-W2501R	het unknown	0.566	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25	TG-R2530Q	homozygous	0.586	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	PON1-Q192R	het unknown	0.572	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	PON1-L55M	het unknown	0.230	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	SYNJ2-Y61Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SYNJ2-E1468G	het unknown	0.548	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	GLI3-T183A	het unknown	0.663	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RSPH4A-R556H	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	RSPH4A-L589P	het unknown	0.707	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SLC22A16-H49R	het unknown	0.333	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	EYA4-G277S	het unknown	0.467	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	SOD2-V16A	het unknown	0.362	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PRIM2-L39*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	PRIM2-E181K	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PRIM2-D204G	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRIM2-S259G	het unknown	0.002	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PRIM2-L286P	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRIM2-Y287C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PRIM2-H289R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PRIM2-N298Shift	het unknown	0.389	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.25	PRIM2-C302R	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRIM2-T323A	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRIM2-Q325*	het unknown	0.492	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Nonsense mutation
0.25	PRIM2-D342G	het unknown	0.468	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRIM2-Y345C	het unknown	0.468	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRIM2-R349C	het unknown	0.468	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRIM2-H445Q	het unknown	0.892	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PRIM2-S464P	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TXNDC3-R43K	het unknown	0.291	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TXNDC3-C208R	het unknown	0.740	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TXNDC3-I493T	het unknown	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25	NPSR1-N107I	het unknown	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	NPSR1-Q344R	het unknown	0.309	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	LMBRD1-D469E	het unknown	0.393	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0	UNC13D-R928C	het unknown		Recessive pathogenic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0	SERPINA1-E288V	het unknown	0.047	Recessive pathogenic	Low clinical importance, well-established	This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.
0	HPS6-A486Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
0	DCTN1-A318Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
0	CLEC7A-Y238*	het unknown	0.043	Recessive pathogenic	Low clinical importance, uncertain	This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,745,351,077 bases (96.9% of callable positions, 90.8% of total positions)

Coding region coverage: 32,819,928 bases (98.8% of all genes, 99.4% of genes with clinical testing available)

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

hu8229AE - GET-Evidence variant report

Variant report for hu8229AE

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