Variant report for hu7A4AD1

Data source: CGI sample GS01669-DNA_C05 from PGP sample 42408046
This report: evidence.pgp-hms.org/genomes?26fd9758608044e27bd326a5601aa3f47bdd43b2
Person ID: hu7A4AD1
public profile: my.pgp-hms.org/profile/hu7A4AD1
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	LRP5-V667M	High	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.0413646	This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.	1
2	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
3	MTRR-I49M	Low	Likely	Likely pathogenic Recessive, Carrier (Heterozygous)	0.451199	This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.	1
4	AMPD1-Q12X	Low	Likely	Likely pathogenic Recessive, Carrier (Heterozygous)	0.0930643	Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.	1
5	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
6	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
7	H6PD-R453Q	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.308886	This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).	1
8	TP53-P72R	Low	Uncertain	Uncertain pathogenic Unknown, Heterozygous	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	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
11	KCNE2-T8A	Low	Uncertain	Uncertain pharmacogenetic Dominant, Heterozygous	0.0044618	Found in about 1% of individuals, probably has no clinically significant effect. One group proposed that this variant may cause increased susceptibility to drug-induced arrhythmia, but this conclusion is not supported (and perhaps slightly contradicted) by their reported observations of the variant in clinical cases.	1
12	PRNP-M129V	Low	Well-established	Well-established protective Complex/Other, Heterozygous	0.339561	This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.	1
13	NPC1-H215R	Low	Likely	Likely protective Complex/Other, Homozygous	0.295687	This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).	1
14	KCNJ11-K23E	Low	Likely	Likely protective Unknown, Heterozygous	0.738148	This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.	1
15	MTR-D919G	Low	Uncertain	Uncertain protective Complex/Other, Heterozygous	0.217234	This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption.	1
16	IRS2-G1057D	Low	Uncertain	Uncertain protective Unknown, Heterozygous	0.232615	a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003).	1
17	BRCA2-T1915M	Low	Uncertain	Uncertain protective Unknown, Heterozygous	0.0205429	Serrano-Fernández et al. found this variant to be associated with a modest (OR = 1.61) but significant (P = 0.0007) reduction in breast cancer risk.	1
18	PMS2-P470S	Low	Likely	Likely benign Unknown, Heterozygous	0.374884	Benign, common variant.	1
19	EFHC1-R182H	Low	Likely	Likely benign Unknown, Heterozygous	0.0439673	Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.	1
20	CACNA1S-L458H	Low	Likely	Likely benign Unknown, Heterozygous	0.27282	Common polymorphism	1
21	PKD1-A4059V	Low	Likely	Likely benign Unknown, Heterozygous	0.0570413	Probably benign.	1
22	FANCI-P55L	Low	Likely	Likely benign Unknown, Heterozygous	0.0507529	Probably benign.	1
23	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
24	TPCN2-G734E	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.286166	Pigmentation allele.	1
25	COL7A1-P1277L	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0407139	Polymorphism, presumed benign.	1
26	MAPT-Q230R	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0420019	Common polymorphism.	1
27	GALT-N314D	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0716676	This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).	1
28	PHYH-P29S	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.155326	Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.	1
29	MAPT-R370W	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.155549	Probably benign.	1
30	CD19-R514H	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0482432	Presumed benign.	1
31	APOB-Y1422C	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.999628	This position is almost certainly an error in the HG18 reference sequence.	1
32	PCSK9-G670E	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.888269	This variant is likely benign.	1
33	AMPD1-P48L	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0940695	Probably benign, ancestral to15173240 pathogenic Q12X mutation.	1
34	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
35	RAPSN-R58C	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0778026	Reported as non-pathogenic polymorphism.	1
36	PTCH1-P1315L	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.29631	Common polymorphism, presumed benign.	1
37	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: 32857423 / 33212919 = 98.93%

Row number	Gene	Chromosome	Coverage	Missing	Length	Missing regions
1	AGRN	1	0.95845552297165	255	6138	955553-955628, 955634-955668, 976689-976690, 981861, 983605-983745
2	GABRD	1	0.96173657100809	52	1359	1950863-1950870, 1950880-1950885, 1950889-1950926
3	ESPN	1	0.9692007797271	79	2565	6488386-6488392, 6500686-6500715, 6500759-6500765, 6500864-6500868, 6505851-6505856, 6505914-6505937
4	PLEKHG5	1	0.95609909062402	140	3189	6534091-6534161, 6534187-6534197, 6534511-6534564, 6534602-6534604, 6534645
5	KIF1B	1	0.99868247694335	7	5313	10357019, 10357022-10357025, 10425584-10425585
6	PEX14	1	0.99559082892416	5	1134	10684443, 10684447-10684450
7	TARDBP	1	0.99116465863454	11	1245	11082356-11082362, 11082519-11082522
8	PLOD1	1	0.99954212454212	1	2184	11994871
9	CLCNKA	1	0.98643410852713	28	2064	16349191-16349197, 16354391-16354397, 16358268-16358274, 16360141-16360147
10	CLCNKB	1	0.99660852713178	7	2064	16378851-16378857
11	ATP13A2	1	0.99633079311318	13	3543	17313597-17313599, 17313610-17313613, 17313616-17313621
12	PINK1	1	0.99942726231386	1	1746	20960090
13	HSPG2	1	0.99521857923497	63	13176	22263648-22263710
14	WNT4	1	0.91003787878788	95	1056	22447955-22447972, 22469339-22469415
15	SEPN1	1	0.88729016786571	188	1668	26126722-26126904, 26139178-26139182
16	KCNQ4	1	0.99952107279693	1	2088	41284276
17	STIL	1	0.99870700801655	5	3867	47726196, 47767321-47767324
18	DHCR24	1	0.99548678272083	7	1551	55352590, 55352597-55352598, 55352601-55352602, 55352608-55352609
19	ALG6	1	0.99869281045752	2	1530	63881587-63881588
20	LEPR	1	0.99942824471126	2	3498	66067583, 66083704
21	GLMN	1	0.99495798319328	9	1785	92732049, 92763035-92763042
22	RPL5	1	0.97874720357942	19	894	93307372-93307373, 93307404-93307420
23	DPYD	1	0.98927875243665	33	3078	97847949-97847950, 97847953, 97847963, 97847973-97847988, 97847997-97848000, 98144720, 98348859-98348865, 98348885
24	AGL	1	0.99412915851272	27	4599	100327909-100327921, 100336019-100336032
25	DBT	1	0.99792960662526	3	1449	100681754-100681755, 100701006
26	COL11A1	1	0.96041781198461	216	5457	103354138, 103355044-103355050, 103363697-103363721, 103364222-103364329, 103364497-103364498, 103364530-103364550, 103405913, 103405917, 103412456, 103412459-103412464, 103427780, 103435775-103435778, 103435805, 103435808, 103435811-103435814, 103435817-103435828, 103449694-103449701, 103470164-103470168, 103471851, 103471854-103471859
27	CASQ2	1	0.99833333333333	2	1200	116244024-116244025
28	NOTCH2	1	0.97963861920173	151	7416	120539664-120539714, 120539742, 120539778-120539784, 120539913-120539919, 120539933-120539955, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611961-120611967, 120612000-120612010
29	FLG	1	0.99532250123092	57	12186	152276446-152276493, 152278049, 152278434, 152279403-152279409
30	NTRK1	1	0.9995817649519	1	2391	156830742
31	KCNJ10	1	0.99824561403509	2	1140	160012062-160012063
32	MPZ	1	0.98712998712999	10	777	161276183-161276192
33	F5	1	0.99895131086142	7	6675	169510337-169510343
34	DARS2	1	0.99948400412797	1	1938	173814391
35	HMCN1	1	0.99994085639934	1	16908	185932957
36	PDC	1	0.99460188933873	4	741	186418588-186418591
37	CFH	1	0.99512987012987	18	3696	196658679, 196658728-196658744
38	CFHR1	1	0.89224572004028	107	993	196794724-196794758, 196797217-196797248, 196797256-196797295
39	CFHR5	1	0.99181286549708	14	1710	196953120-196953121, 196953171, 196963242-196963249, 196967402-196967404
40	ASPM	1	0.99702894383745	31	10434	197057507-197057528, 197104293-197104300, 197113088
41	CD46	1	0.99166666666667	10	1200	207943692-207943700, 207956639
42	USH2A	1	0.99756550707925	38	15609	215916519-215916522, 215916525-215916544, 215916557-215916563, 215916573-215916574, 216061812, 216061819, 216496868, 216496876-216496877
43	GJC2	1	0.86060606060606	184	1320	228345581-228345586, 228345594, 228345600-228345604, 228345612-228345618, 228345621, 228345755, 228345772-228345791, 228345794, 228345797-228345804, 228345942-228345946, 228346034, 228346059-228346090, 228346100-228346142, 228346161-228346164, 228346353-228346369, 228346375-228346382, 228346385-228346387, 228346392-228346396, 228346400-228346413, 228346425, 228346431
44	ACTA1	1	0.99911816578483	1	1134	229567921
45	LYST	1	0.99254778186919	85	11406	235875439-235875444, 235896818, 235896830, 235897798-235897801, 235926096, 235944184-235944209, 235944240, 235944270, 235944273, 235944285, 235944315, 235944319, 235950528-235950562, 235956856, 235969166-235969169
46	MTR	1	0.99921011058452	3	3798	237013696-237013697, 237060354
47	RYR2	1	0.99590713902308	61	14904	237656358, 237656361, 237656381-237656385, 237765342-237765345, 237821244-237821260, 237821271-237821303
48	FH	1	0.99478147423353	8	1533	241661180-241661185, 241663860, 241669403
49	DCLRE1C	10	0.99518999519	10	2079	14970027-14970030, 14970035-14970040
50	CUBN	10	0.99889624724062	12	10872	16932489-16932499, 16960714
51	PTF1A	10	0.98581560283688	14	987	23481898-23481907, 23481912-23481913, 23481916, 23481938
52	MYO3A	10	0.99773242630385	11	4851	26385312-26385313, 26385316-26385320, 26500878-26500881
53	PDSS1	10	0.97836538461538	27	1248	26994215-26994236, 26994281, 26994293-26994294, 27035296-27035297
54	MASTL	10	0.9935532802427	17	2637	27448627-27448640, 27456171-27456173
55	RET	10	0.99581464872945	14	3345	43572746-43572756, 43572763-43572765
56	ERCC6	10	0.99799196787149	9	4482	50681027, 50740814-50740817, 50740820-50740822, 50740828
57	CHAT	10	0.93546951490877	145	2247	50822275-50822417, 50822420, 50872823
58	PCDH15	10	0.97911360163016	123	5889	55587194-55587237, 55587245-55587251, 55719539, 55943249-55943252, 55973729-55973730, 55973743, 55973761, 56128910-56128939, 56138647-56138670, 56138673-56138681
59	PSAP	10	0.98984126984127	16	1575	73579575-73579590
60	BMPR1A	10	0.99937460913071	1	1599	88683146
61	HPS1	10	0.99477682811016	11	2106	100177380-100177382, 100183557-100183564
62	SUFU	10	0.99931271477663	1	1455	104263974
63	CYP17A1	10	0.99803536345776	3	1527	104592791-104592792, 104592795
64	SHOC2	10	0.99828473413379	3	1749	112769046-112769048
65	HTRA1	10	0.95356895356895	67	1443	124221169-124221196, 124221202-124221217, 124221219, 124221229, 124221238-124221249, 124221293, 124221297-124221298, 124221466-124221467, 124221477-124221479, 124221483
66	SLC25A22	11	0.99485596707819	5	972	792621-792625
67	PNPLA2	11	0.96171617161716	58	1515	819719, 819721-819736, 819743, 819762, 819788-819820, 819852-819854, 819862-819864
68	CTSD	11	0.98789346246973	15	1239	1785042, 1785047-1785051, 1785056-1785061, 1785065-1785066, 1785069
69	TH	11	0.99746031746032	4	1575	2191924-2191925, 2191929-2191930
70	CDKN1C	11	0.7739221871714	215	951	2905938-2905973, 2905976, 2905979, 2906018-2906042, 2906064-2906135, 2906144-2906203, 2906222-2906240, 2906403
71	HBD	11	0.98423423423423	7	444	5255652-5255658
72	SBF2	11	0.99981981981982	1	5550	10014052
73	ABCC8	11	0.99978929624947	1	4746	17452427
74	USH1C	11	0.99185185185185	22	2700	17531171-17531182, 17531186, 17531208, 17531309, 17531313-17531319
75	ANO5	11	0.96644784828592	92	2742	22249060-22249063, 22276960, 22276979-22276985, 22276989-22277068
76	WT1	11	0.9993564993565	1	1554	32456655
77	PDHX	11	0.99933598937583	1	1506	34991791
78	SERPING1	11	0.99467731204258	8	1503	57365747, 57365750-57365755, 57365757
79	SLC22A12	11	0.99759326113117	4	1662	64367266-64367268, 64367274
80	CABP4	11	0.9975845410628	2	828	67222957, 67222960
81	LRP5	11	0.98700495049505	63	4848	68080191-68080242, 68080256, 68080262-68080270, 68216526
82	IGHMBP2	11	0.99832327297116	5	2982	68704532-68704535, 68704540
83	MYO7A	11	0.99939831528279	4	6648	76922292-76922295
84	TYR	11	0.99433962264151	9	1590	88961025-88961033
85	DYNC2H1	11	0.98539976825029	189	12945	102984275-102984282, 102984290, 102984308, 102984316, 102984323, 102991468, 102991486-102991490, 102991498-102991506, 102991678, 102991707, 103006547-103006554, 103006668, 103029447-103029450, 103029453-103029474, 103036771-103036777, 103043822-103043825, 103043832-103043846, 103043915-103043919, 103043933-103043936, 103044006-103044007, 103049830, 103052517-103052521, 103052530-103052535, 103059239-103059251, 103059263-103059264, 103059297, 103059300, 103059303, 103059308, 103062248-103062252, 103062272, 103062323-103062348, 103062923, 103062926, 103070054, 103070058-103070061, 103091464, 103093694, 103093719-103093724, 103107185, 103130623-103130626, 103194617, 103194623-103194625, 103349892
86	ACAT1	11	0.99376947040498	8	1284	107992377-107992384
87	ATM	11	0.9860429615091	128	9171	108098371-108098382, 108126942-108126947, 108126958-108126967, 108126978-108127067, 108196139-108196143, 108196156-108196157, 108196161-108196163
88	RDX	11	0.99942922374429	1	1752	110124695
89	DLAT	11	0.99074074074074	18	1944	111910012-111910029
90	CACNA2D4	12	0.99502050380785	17	3414	1902897-1902913
91	CACNA1C	12	0.9961896052431	25	6561	2622069-2622086, 2794934-2794940
92	VWF	12	0.98625918028903	116	8442	6122647-6122650, 6125338-6125344, 6127532-6127538, 6127655-6127661, 6127782-6127788, 6128339-6128345, 6128449-6128451, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033
93	TNFRSF1A	12	0.99926900584795	1	1368	6439007
94	ATN1	12	0.98376714245732	58	3573	7045600, 7045603-7045604, 7045888-7045942
95	PEX5	12	0.99367088607595	12	1896	7351618-7351629
96	GYS2	12	0.97632575757576	50	2112	21712025-21712074
97	ABCC9	12	0.99763440860215	11	4650	21991036-21991037, 21998565, 22063772-22063777, 22063804, 22063807
98	DNM1L	12	0.99728629579376	6	2211	32866242, 32866245-32866246, 32866272, 32866290, 32883961
99	KIF21A	12	0.99638989169675	18	4986	39709031, 39709035-39709042, 39719683, 39745579, 39745587-39745593
100	LRRK2	12	0.97376054852321	199	7584	40634334, 40687372-40687394, 40696624-40696637, 40697750-40697751, 40713853-40713877, 40713898-40713917, 40761446-40761559
101	IRAK4	12	0.99855386840202	2	1383	44171512, 44171523
102	VDR	12	0.99532710280374	6	1284	48251306-48251308, 48272879-48272881
103	MLL2	12	0.99891657638137	18	16614	49427265-49427268, 49427659-49427661, 49427670-49427676, 49431291-49431293, 49431299
104	TUBA1A	12	0.8969298245614	47	456	49522195-49522241
105	KRT81	12	0.9901185770751	15	1518	52682999-52683005, 52684021-52684027, 52685096
106	KRT86	12	0.98973305954825	15	1461	52695851-52695857, 52696927-52696933, 52697952
107	KRT6B	12	0.94336283185841	96	1695	52841338-52841344, 52843578-52843584, 52844243, 52844246, 52844265, 52844378-52844395, 52845397-52845403, 52845527-52845534, 52845598-52845604, 52845662-52845686, 52845713-52845719, 52845798-52845804
108	KRT6C	12	0.96342182890855	62	1695	52864945-52864951, 52865905, 52865918, 52865921, 52865925, 52866038-52866055, 52867056-52867062, 52867190, 52867252-52867263, 52867324, 52867339-52867342, 52867456-52867463
109	KRT6A	12	0.94985250737463	85	1695	52881868-52881874, 52882264-52882270, 52882312-52882318, 52885494-52885499, 52886553-52886559, 52886638-52886644, 52886703-52886714, 52886772-52886796, 52886908-52886914
110	KRT5	12	0.99492385786802	9	1773	52908743-52908746, 52908889-52908893
111	KRT1	12	0.99173126614987	16	1935	53069321-53069327, 53070157, 53072484, 53072487-53072493
112	GNS	12	0.99638336347197	6	1659	65141671-65141672, 65141677-65141679, 65141683
113	LEMD3	12	0.99780701754386	6	2736	65612348-65612350, 65612356-65612357, 65632470
114	CEP290	12	0.99112903225806	66	7440	88443060, 88443066, 88449493-88449494, 88452741-88452748, 88462339, 88462381-88462383, 88472943-88472949, 88472956-88472966, 88472988, 88496773-88496774, 88496784, 88505472, 88505494, 88513947, 88514008-88514011, 88520093-88520107, 88522731, 88522743, 88522777-88522778, 88522785, 88534794
115	SLC17A8	12	0.99887005649718	2	1770	100774582, 100774588
116	PAH	12	0.99926416482708	1	1359	103288573
117	ATXN2	12	0.97640791476408	93	3942	111895071-111895074, 112036740-112036746, 112036749, 112036757-112036817, 112036895-112036906, 112036926-112036931, 112036934, 112037072
118	TBX5	12	0.99935773924213	1	1557	114804121
119	HNF1A	12	0.99419831223629	11	1896	121434381-121434391
120	PUS1	12	0.99922118380062	1	1284	132426014
121	SACS	13	0.99970887918486	4	13740	23915152-23915155
122	BRCA2	13	0.99961002242371	4	10257	32920966-32920968, 32920975
123	RB1	13	0.99390025116613	17	2787	48941675-48941676, 48947576-48947583, 48947586-48947588, 48954215, 48954218-48954220
124	EDNRB	13	0.99924755455229	1	1329	78472454
125	ZIC2	13	0.91682301438399	133	1599	100634400-100634407, 100634596-100634608, 100634622, 100634625, 100635004-100635040, 100637707, 100637715-100637717, 100637723-100637744, 100637798, 100637817-100637861, 100637898
126	PCCA	13	0.99954275262917	1	2187	100925526
127	ERCC5	13	0.99834866713848	7	4239	103468803-103468807, 103468813-103468814
128	PABPN1	14	0.8599348534202	129	921	23790695, 23790697-23790699, 23790701-23790710, 23790713-23790718, 23790726, 23790741-23790744, 23790752, 23790837-23790852, 23790858-23790896, 23790910-23790934, 23790959, 23790967-23790985, 23790989, 23790996-23790997
129	TGM1	14	0.9918500407498	20	2454	24724252-24724271
130	FOXG1	14	0.81224489795918	276	1470	29236673-29236948
131	CFL2	14	0.98203592814371	9	501	35182334-35182342
132	NKX2-1	14	0.99751243781095	3	1206	36986839, 36988374, 36988377
133	FANCM	14	0.98796160728811	74	6147	45623907, 45623911-45623913, 45623917-45623922, 45623950-45623954, 45623976-45624025, 45644387-45644393, 45653037, 45667913
134	SYNE2	14	0.9979733642154	42	20724	64447737-64447740, 64447749-64447754, 64457198-64457209, 64457681, 64457778-64457783, 64494275-64494279, 64522840, 64522843, 64556364-64556366, 64556379-64556380, 64556397
135	ZFYVE26	14	0.9989501312336	8	7620	68241758, 68244313-68244319
136	PSEN1	14	0.99928774928775	1	1404	73659462
137	MLH3	14	0.99977074736359	1	4362	75506697
138	VIPAR	14	0.99595141700405	6	1482	77894726, 77894754-77894758
139	GALC	14	0.99902818270165	2	2058	88448554-88448555
140	SPATA7	14	0.99944444444444	1	1800	88859794
141	TTC8	14	0.99289405684755	11	1548	89305799-89305800, 89305845-89305846, 89305849-89305854, 89305898
142	ATXN3	14	0.99447513812155	6	1086	92537355-92537359, 92537371
143	VRK1	14	0.95549958018472	53	1191	97304102-97304154
144	AMN	14	0.98237885462555	24	1362	103396597-103396600, 103396610-103396616, 103396646-103396648, 103396813-103396822
145	INF2	14	0.92186666666667	293	3750	105173758-105173776, 105173779, 105173856-105174128
146	NIPA1	15	0.82020202020202	178	990	23086234-23086411
147	UBE3A	15	0.99733637747336	7	2628	25616251-25616257
148	TRPM1	15	0.99709060681629	14	4812	31294792-31294795, 31320551, 31320565-31320572, 31320575
149	SLC12A6	15	0.99971039675644	1	3453	34549847
150	SPRED1	15	0.99325842696629	9	1335	38614553-38614559, 38614565-38614566
151	CHST14	15	0.98496905393457	17	1131	40763452, 40763517-40763521, 40763524, 40763527-40763534, 40763538, 40763784
152	CDAN1	15	0.99511400651466	18	3684	43017763-43017766, 43018340-43018346, 43019917, 43019923-43019928
153	TTBK2	15	0.99759036144578	9	3735	43067848-43067855, 43109262
154	STRC	15	0.97147147147147	152	5328	43896303-43896312, 43897537-43897560, 43900150-43900156, 43902598-43902614, 43907736-43907752, 43908275-43908301, 43910436-43910444, 43910863-43910903
155	STRC	15	0.98153846153846	36	1950	44007206-44007214, 44007737-44007763
156	SPG11	15	0.99536279323513	34	7332	44912484, 44941090-44941094, 44941100-44941127
157	DUOX2	15	0.99870884441575	6	4647	45398353-45398358
158	SLC12A1	15	0.99878787878788	4	3300	48577436-48577439
159	FBN1	15	0.99988393686165	1	8616	48737602
160	SCG3	15	0.99502487562189	7	1407	51974747-51974753
161	HCN4	15	0.98338870431894	60	3612	73614880-73614912, 73614925-73614940, 73616147, 73616168-73616173, 73659861-73659864
162	RPS17	15	0.9828431372549	7	408	82823387-82823393
163	RPS17	15	0.9828431372549	7	408	83207730-83207736
164	POLG	15	0.99166666666667	31	3720	89876824-89876842, 89876853-89876864
165	MESP2	15	0.98994974874372	12	1194	90320135-90320146
166	BLM	15	0.99130230371415	37	4254	91310195, 91337405-91337411, 91337416, 91337476-91337480, 91337503-91337506, 91337518, 91337522-91337525, 91337529-91337538, 91337549, 91337562-91337564
167	VPS33B	15	0.99137001078749	16	1854	91542213-91542228
168	IGF1R	15	0.9995126705653	2	4104	99473522, 99473525
169	HBZ	16	0.95571095571096	19	429	203967-203969, 204271-204276, 204299-204302, 204312-204317
170	CLCN7	16	0.98552522746071	35	2418	1524879-1524913
171	IGFALS	16	0.99844720496894	3	1932	1842374-1842376
172	GFER	16	0.98381877022654	10	618	2034285-2034290, 2034308, 2034355, 2034358, 2034364
173	PKD1	16	0.95763630731103	547	12912	2140988-2140989, 2141060, 2141063, 2141081-2141084, 2141164-2141175, 2142550-2142557, 2147946-2147952, 2149876, 2149965, 2150216-2150222, 2150278-2150284, 2152384-2152409, 2153592-2153598, 2153670-2153691, 2153699-2153741, 2153767, 2154534-2154576, 2154625, 2154631-2154641, 2155338, 2155906-2155931, 2156442-2156450, 2156519-2156526, 2156894-2156907, 2159402-2159408, 2159466-2159481, 2159577-2159584, 2159712-2159718, 2159989-2159999, 2160134-2160140, 2160721, 2161824-2161837, 2164563-2164569, 2165478-2165496, 2167848-2167879, 2167968-2168000, 2168056-2168075, 2168209-2168215, 2185515-2185538, 2185579-2185618, 2185660-2185690
174	CREBBP	16	0.99058534588621	69	7329	3778407-3778412, 3778433-3778442, 3778445-3778446, 3778450-3778461, 3778813-3778823, 3779478, 3831230-3831233, 3831240-3831260, 3929890-3929891
175	ALG1	16	0.95627240143369	61	1395	5128826-5128870, 5131019-5131027, 5134813-5134819
176	ABCC6	16	0.9949024822695	23	4512	16313509-16313515, 16315668-16315683
177	OTOA	16	0.99590643274854	14	3420	21742176-21742182, 21756233-21756239
178	OTOA	16	0.9929718875502	7	996	22572356-22572362
179	SCNN1B	16	0.99635985439418	7	1923	23360059-23360065
180	CLN3	16	0.99924069855733	1	1317	28497703
181	ATP2A1	16	0.99933466400532	2	3006	28911967-28911968
182	PHKG2	16	0.92219492219492	95	1221	30760142-30760236
183	FUS	16	0.99936748893106	1	1581	31195303
184	SALL1	16	0.99647798742138	14	3975	51175660-51175662, 51175667-51175674, 51175685, 51175689, 51185090
185	RPGRIP1L	16	0.99417426545086	23	3948	53653104-53653117, 53672283, 53672309-53672315, 53672319
186	COQ9	16	0.99686520376176	3	957	57485056-57485058
187	GPR56	16	0.99467054263566	11	2064	57689311-57689321
188	HSD11B2	16	0.93185550082102	83	1218	67465152, 67465214-67465291, 67469997, 67470000-67470002
189	LCAT	16	0.99848828420257	2	1323	67973976, 67973979
190	COG8	16	0.99456226209897	10	1839	69373231-69373240
191	GCSH	16	0.99808429118774	1	522	81116504
192	MLYCD	16	0.95681511470985	64	1482	83932810-83932816, 83932827-83932841, 83932847-83932860, 83932868, 83932871, 83932874-83932877, 83932886-83932894, 83932990, 83933092, 83933094-83933101, 83933106, 83933112-83933113
193	LRRC50	16	0.97750229568411	49	2178	84199440-84199488
194	FOXF1	16	0.99736842105263	3	1140	86544211-86544213
195	JPH3	16	0.99955496217178	1	2247	87723977
196	SPG7	16	0.99455611390285	13	2388	89579413-89579425
197	FANCA	16	0.99885531135531	5	4368	89842169-89842173
198	TUBB3	16	0.99482631189948	7	1353	90002185-90002190, 90002201
199	GP1BA	17	0.99947916666667	1	1920	4837220
200	PITPNM3	17	0.99965811965812	1	2925	6358752
201	GUCY2D	17	0.99124396135266	29	3312	7906414, 7906417-7906422, 7906426, 7906450-7906454, 7906480-7906486, 7906492-7906500
202	HES7	17	0.95427728613569	31	678	8024987, 8025000-8025003, 8025662-8025687
203	MYH2	17	0.9991417782355	5	5826	10430096-10430099, 10446431
204	ELAC2	17	0.99758162031439	6	2481	12896189-12896194
205	COX10	17	0.98423423423423	21	1332	13980124-13980137, 14095345-14095351
206	RAI1	17	0.99370739381227	36	5721	17697094-17697111, 17697115-17697129, 17699993-17699995
207	MYO15A	17	0.99669593127537	35	10593	18024013-18024022, 18024030-18024042, 18024210-18024215, 18049343-18049347, 18057113
208	UNC119	17	0.91977869986169	58	723	26879356-26879364, 26879367-26879373, 26879379, 26879382, 26879393-26879394, 26879397-26879399, 26879413-26879417, 26879420-26879434, 26879448-26879452, 26879455-26879463, 26879514
209	NF1	17	0.98532863849765	125	8520	29422328-29422341, 29548872, 29556221-29556243, 29586070-29586084, 29586104, 29586107-29586112, 29586122-29586125, 29586140, 29588748-29588792, 29664859, 29664864, 29664872-29664879, 29665764, 29679391-29679394
210	KRT10	17	0.93561253561254	113	1755	38975228-38975249, 38975284-38975371, 38978766-38978768
211	KRT14	17	0.99506694855532	7	1419	39741304-39741309, 39742832
212	KRT16	17	0.9648382559775	50	1422	39766265-39766281, 39768490-39768496, 39768721-39768746
213	KRT17	17	0.9838337182448	21	1299	39780414-39780420, 39780465-39780471, 39780516-39780522
214	STAT5B	17	0.99450084602369	13	2364	40371359-40371371
215	PLEKHM1	17	0.99243140964995	24	3171	43530928-43530935, 43531330-43531336, 43552537, 43552714-43552720, 43552921
216	MAPT	17	0.999141999142	2	2331	44067244-44067245
217	COL1A1	17	0.99226393629124	34	4395	48265936-48265969
218	NOG	17	0.99856938483548	1	699	54672229
219	TRIM37	17	0.99896373056995	3	2895	57105911, 57105916, 57119188
220	AP1S2	17	0.99358974358974	4	624	58180036-58180039
221	ACE	17	0.98622800306044	54	3921	61554490-61554519, 61554553-61554559, 61574562-61574568, 61574573-61574576, 61574579-61574584
222	SCN4A	17	0.99891126837235	6	5511	62029234-62029239
223	POLG2	17	0.99931412894376	1	1458	62476492
224	COG1	17	0.99762147468569	7	2943	71189491-71189497
225	SEPT9	17	0.92277115275412	136	1761	75494605-75494740
226	SGSH	17	0.99271040424122	11	1509	78194052-78194053, 78194075-78194078, 78194081-78194083, 78194094-78194095
227	LPIN2	18	0.99962839093274	1	2691	2951126
228	AFG3L2	18	0.99958228905597	1	2394	12377046
229	NPC1	18	0.99791503778994	8	3837	21124936, 21124945, 21152038-21152043
230	LAMA3	18	0.99900019996001	10	10002	21269658-21269662, 21269687-21269691
231	DSC3	18	0.98959494611669	28	2691	28604376-28604387, 28622573-28622585, 28622594-28622596
232	DSC2	18	0.9929785661493	19	2706	28669417-28669419, 28669456-28669471
233	TTR	18	0.97972972972973	9	444	29178574-29178579, 29178582-29178584
234	LOXHD1	18	0.97634116937914	157	6636	44085985-44085986, 44126858-44127012
235	SMAD4	18	0.9915611814346	14	1659	48603067-48603079, 48603085
236	TCF4	18	0.99404761904762	12	2016	53252517-53252528
237	ATP8B1	18	0.99547390841321	17	3756	55328529, 55398954-55398969
238	LMAN1	18	0.99934768427919	1	1533	56998354
239	CCBE1	18	0.995085995086	6	1221	57134061-57134066
240	TNFRSF11A	18	0.9837925445705	30	1851	59992595-59992607, 59992612-59992615, 59992627-59992639
241	ELANE	19	0.82338308457711	142	804	853262-853403
242	KISS1R	19	0.99164578111947	10	1197	920308, 920311-920313, 920316, 920347-920348, 920374-920376
243	MAP2K2	19	0.92352452202826	92	1203	4123781-4123872
244	STXBP2	19	0.99775533108866	4	1782	7702042, 7707089-7707091
245	TYK2	19	0.99887766554433	4	3564	10463147-10463150
246	CACNA1A	19	0.99016088286132	74	7521	13318568, 13318646, 13318649-13318655, 13318666-13318712, 13318793-13318797, 13318800, 13318809-13318812, 13318835, 13319687, 13319692-13319694, 13616910, 13616913, 13616952
247	NOTCH3	19	0.99511915015791	34	6966	15281324-15281329, 15281334, 15281351-15281357, 15311619-15311626, 15311637-15311646, 15311668, 15311695
248	JAK3	19	0.99733333333333	9	3375	17940924, 17940933-17940939, 17941326
249	SLC5A5	19	0.99948240165631	1	1932	17984971
250	COMP	19	0.99516270888303	11	2274	18900764, 18900768, 18900780-18900783, 18900789, 18900795, 18901663-18901665
251	CEBPA	19	0.90343546889508	104	1077	33792850-33792864, 33792868-33792874, 33792891, 33792913-33792920, 33792967-33792992, 33793016-33793022, 33793168, 33793201-33793205, 33793213, 33793216-33793240, 33793246-33793247, 33793261, 33793264-33793268
252	SCN1B	19	0.95043370508055	40	807	35521725-35521764
253	PRODH2	19	0.99441340782123	9	1611	36303319-36303327
254	RYR1	19	0.99986769861745	2	15117	38976674-38976675
255	PRX	19	0.97423620611035	113	4386	40901311-40901314, 40901317, 40901323-40901328, 40909621, 40909624, 40909628, 40909634, 40909666-40909763
256	TGFB1	19	0.99147485080989	10	1173	41854253, 41858919-41858925, 41858928-41858929
257	ATP1A3	19	0.99891245241979	4	3678	42471349, 42480576, 42480580, 42480583
258	BCAM	19	0.99364069952305	12	1887	45312401, 45312404, 45312407-45312410, 45312424-45312428, 45321862
259	SIX5	19	0.99324324324324	15	2220	46270182-46270186, 46271957, 46272074-46272082
260	DMPK	19	0.97989417989418	38	1890	46285538-46285540, 46285543, 46285547-46285549, 46285555-46285561, 46285571-46285582, 46285592, 46285600-46285610
261	FKRP	19	0.98454301075269	23	1488	47259666, 47259705-47259709, 47259722-47259735, 47259743-47259745
262	CRX	19	0.99888888888889	1	900	48342639
263	DBP	19	0.98670756646217	13	978	49138837-49138842, 49138845, 49138848-49138853
264	MED25	19	0.99777183600713	5	2244	50333776, 50333779, 50339526, 50339529-50339530
265	MYH14	19	0.99967272132221	2	6111	50770146, 50770233
266	KCNC3	19	0.85488126649077	330	2274	50823506-50823551, 50823553-50823558, 50823561-50823566, 50823572-50823573, 50823580-50823596, 50831515-50831523, 50831529-50831534, 50831552-50831554, 50831654, 50831712-50831714, 50831796-50831800, 50831828, 50831834-50831840, 50831856-50831858, 50831865-50831866, 50831931-50831935, 50831938-50831956, 50831959, 50831963-50831971, 50832025, 50832028, 50832141, 50832144-50832146, 50832149-50832153, 50832172-50832339
267	PRKCG	19	0.98519579751671	31	2094	54393207-54393235, 54393243-54393244
268	NLRP7	19	0.98233782915864	55	3114	55450693-55450740, 55451035-55451041
269	TNNT1	19	0.99619771863118	3	789	55657832-55657834
270	TNNI3	19	0.99835796387521	1	609	55667693
271	KLF11	2	0.97270955165692	42	1539	10183844-10183885
272	MYCN	2	0.99928315412186	1	1395	16082599
273	APOB	2	0.99598305579901	55	13692	21227182-21227201, 21266749-21266783
274	OTOF	2	0.97964631297965	122	5994	26697416, 26699759-26699768, 26699785-26699793, 26699800-26699832, 26699837-26699847, 26699855-26699903, 26700117-26700120, 26700126, 26700134, 26712606-26712608
275	C2orf71	2	0.99974140160331	1	3867	29293672
276	ALK	2	0.99814929056138	9	4863	29451777-29451785
277	SPAST	2	0.89951377633712	186	1851	32289006, 32289013, 32289075, 32289083-32289192, 32289201, 32289203-32289246, 32289251, 32289266-32289267, 32289298-32289315, 32340799-32340805
278	SOS1	2	0.98750624687656	50	4002	39214617-39214643, 39278414-39278425, 39285880, 39285890-39285899
279	ABCG5	2	0.99539877300613	9	1956	44047191-44047196, 44047201-44047203
280	MSH2	2	0.99857397504456	4	2805	47635540, 47641531-47641533
281	MSH6	2	0.99681606661768	13	4083	48010550-48010556, 48010570, 48010576-48010578, 48010588, 48032757
282	LHCGR	2	0.99190476190476	17	2100	48982760-48982775, 48982778
283	NRXN1	2	0.99977401129943	1	4425	50170905
284	EFEMP1	2	0.99325236167341	10	1482	56102088, 56102127-56102134, 56102137
285	MCEE	2	0.9924670433145	4	531	71337176-71337178, 71337196
286	ALMS1	2	0.99840051183621	20	12504	73613032-73613043, 73827996-73828002, 73828342
287	DCTN1	2	0.99869689861871	5	3837	74592662-74592666
288	SUCLG1	2	0.97790585975024	23	1041	84668427, 84676792-84676809, 84676815-84676818
289	SFTPB	2	0.99912739965096	1	1146	85892793
290	REEP1	2	0.97359735973597	16	606	86564605-86564607, 86564615-86564620, 86564627-86564633
291	EIF2AK3	2	0.99731423455685	9	3351	88887501, 88887515, 88926747-88926752, 88926759
292	RANBP2	2	0.95658914728682	420	9675	109347836-109347874, 109352023-109352029, 109352632-109352638, 109357110-109357116, 109367751-109367775, 109367857-109367895, 109368074-109368110, 109368334-109368341, 109371385-109371424, 109371656-109371662, 109378577, 109378605, 109378624, 109382878-109382926, 109383268-109383274, 109383295-109383321, 109383354-109383381, 109383672-109383678, 109383761-109383798, 109383822-109383828, 109384466-109384472, 109384505-109384511, 109384561-109384574, 109384628-109384634, 109397775, 109397781, 109399068
293	NPHP1	2	0.98721730580138	26	2034	110917729, 110917732, 110922642-110922665
294	MERTK	2	0.99333333333333	20	3000	112656313-112656317, 112656320-112656322, 112656325-112656329, 112656338-112656343, 112656372
295	GLI2	2	0.99138836378912	41	4761	121555022-121555025, 121746117, 121746139-121746149, 121746155, 121746164-121746173, 121746176-121746185, 121746245-121746248
296	PROC	2	0.99422799422799	8	1386	128180670, 128180706, 128180717-128180718, 128180721-128180724
297	RAB3GAP1	2	0.9969450101833	9	2946	135848626, 135848642, 135848653-135848658, 135848661
298	MMADHC	2	0.99887766554433	1	891	150438701
299	NEB	2	0.99354160408531	129	19974	152363472-152363478, 152432741-152432787, 152432801-152432853, 152432861, 152482048-152482068
300	SCN2A	2	0.9950149551346	30	6018	166167012-166167019, 166171987, 166172011, 166211151-166211155, 166221706, 166221709, 166221739, 166234131-166234136, 166234146-166234151
301	SCN9A	2	0.99780923491743	13	5934	167060494, 167060877, 167083161, 167083178, 167083200, 167083214, 167089945, 167089951-167089956
302	SLC25A12	2	0.99852724594993	3	2037	172644427-172644429
303	AGPS	2	0.99393019726859	12	1977	178333183-178333184, 178346792, 178346795, 178346810, 178346818, 178346844, 178346888-178346890, 178362432, 178362488
304	TTN	2	0.9997107174208	29	100248	179416951, 179523796-179523803, 179559366-179559367, 179598578-179598595
305	CERKL	2	0.99874921826141	2	1599	182409515, 182409522
306	COL3A1	2	0.99000227221086	44	4401	189850458-189850462, 189850476-189850479, 189850496-189850504, 189860464-189860470, 189863423-189863426, 189866161, 189871663-189871671, 189871677, 189871680-189871683
307	COL5A2	2	0.99888888888889	5	4500	189916951, 189936786-189936789
308	PMS1	2	0.99106823865666	25	2799	190670434, 190718713-190718715, 190718752, 190718756, 190718765-190718774, 190718781, 190718806-190718808, 190719037, 190732566-190732569
309	CASP10	2	0.9993626513703	1	1569	202050813
310	ALS2	2	0.99819059107358	9	4974	202588077-202588084, 202622395
311	BMPR2	2	0.99615014436959	12	3117	203378527-203378530, 203378540-203378545, 203384813-203384814
312	NDUFS1	2	0.9981684981685	4	2184	206992583, 206992586, 207017206, 207017209
313	FASTKD2	2	0.99953117674637	1	2133	207652764
314	CPS1	2	0.99955585165445	2	4503	211455528, 211507215
315	ABCA12	2	0.99678993323061	25	7788	215797418-215797420, 215797424, 215809767, 215809770, 215812175-215812192, 215846938
316	OBSL1	2	0.9826041117554	99	5691	220416282-220416295, 220435680-220435704, 220435719-220435725, 220435732-220435784
317	COL4A4	2	0.99447077409163	28	5064	227942679, 227984624-227984650
318	UGT1A1	2	0.9956304619226	7	1602	234668951-234668954, 234668964-234668966
319	D2HGDH	2	0.99680715197957	5	1566	242707310-242707313, 242707316
320	AVP	20	0.83030303030303	84	495	3063335-3063374, 3063389, 3063650, 3063653, 3063691, 3063772-3063811
321	PANK2	20	0.99766491535318	4	1713	3870110, 3870113-3870114, 3870124
322	FERMT1	20	0.99950835791544	1	2034	6077649
323	C20orf7	20	0.9990366088632	1	1038	13782279
324	SNTA1	20	0.99934123847167	1	1518	32031339
325	GSS	20	0.99929824561404	1	1425	33530804
326	SAMHD1	20	0.99946836788942	1	1881	35545184
327	CTSA	20	0.98997995991984	15	1497	44520238-44520252
328	CHRNA4	20	0.99044585987261	18	1884	61992467, 61992470-61992483, 61992488, 61992492, 61992497
329	SOX18	20	0.68051948051948	369	1155	62680183-62680188, 62680205-62680209, 62680512-62680869
330	APP	21	0.99956766104626	1	2313	27484445
331	BACH1	21	0.99773857982813	5	2211	30715036-30715040
332	IFNGR2	21	0.93392504930966	67	1014	34775850-34775896, 34775898-34775902, 34775905-34775919
333	AIRE	21	0.99206349206349	13	1638	45713050-45713058, 45714286-45714288, 45714294
334	ITGB2	21	0.97922077922078	48	2310	46308661-46308708
335	COL18A1	21	0.99981006647673	1	5265	46931041
336	COL6A1	21	0.99254940071267	23	3087	47401781-47401784, 47401788-47401806
337	PCNT	21	0.99460593347318	54	10011	47766859-47766875, 47822292-47822312, 47832898-47832906, 47856011-47856017
338	PRODH	22	0.99778147531891	4	1803	18908932-18908933, 18923545, 18923548
339	GP1BB	22	0.92109500805153	49	621	19711824-19711865, 19711896-19711902
340	TBX1	22	0.86290322580645	204	1488	19748428-19748601, 19748610-19748613, 19748617-19748622, 19748628-19748629, 19748667, 19748670-19748672, 19753513-19753522, 19753987, 19754036, 19754040-19754041
341	CHEK2	22	0.94946053378762	89	1761	29083906-29083912, 29083946-29083965, 29085123-29085143, 29085165-29085171, 29091139-29091160, 29091753-29091756, 29091837-29091844
342	TRIOBP	22	0.99901380670611	7	7098	38120003-38120009
343	EP300	22	0.99641131815045	26	7245	41536161, 41546110-41546134
344	TNFRSF13C	22	0.94774774774775	29	555	42322209-42322231, 42322243-42322248
345	CYB5R3	22	0.99227373068433	7	906	43045309-43045314, 43045319
346	ALG12	22	0.99795501022495	3	1467	50297997-50297999
347	MLC1	22	0.99206349206349	9	1134	50502600-50502608
348	TYMP	22	0.99102829537612	13	1449	50964306, 50964475, 50964709, 50964715-50964717, 50964808-50964814
349	SHANK3	22	0.81216628527841	985	5244	51113070-51113132, 51135951-51136143, 51158726-51159212, 51159310-51159313, 51159316, 51159439-51159444, 51159450-51159460, 51159466, 51159471, 51159473-51159475, 51169169-51169171, 51169211-51169215, 51169316-51169350, 51169480-51169612, 51169628-51169629, 51169632-51169635, 51169640-51169645, 51169651, 51169656-51169664, 51169684-51169695, 51169710, 51169714-51169717
350	FANCD2	3	0.97803442028986	97	4416	10085533-10085539, 10088264-10088311, 10088340-10088346, 10091150-10091156, 10107087-10107093, 10107165-10107171, 10114941-10114947, 10115015-10115021
351	TGFBR2	3	0.98988195615514	18	1779	30691868-30691885
352	SCN5A	3	0.9988113431822	7	5889	38592925-38592931
353	HESX1	3	0.91935483870968	45	558	57232246-57232290
354	FLNB	3	0.99769496734537	18	7809	58062873-58062890
355	PDHB	3	0.9962962962963	4	1080	58416517-58416518, 58416521, 58416524
356	ATXN7	3	0.88971106412967	313	2838	63898275-63898439, 63898453-63898599, 63973980
357	PROK2	3	0.95384615384615	18	390	71821960-71821977
358	ROBO2	3	0.99589074208364	17	4137	77595553-77595560, 77600006-77600014
359	GBE1	3	0.97534376481745	52	2109	81754620, 81754623-81754625, 81754679-81754688, 81754695, 81754700-81754704, 81754719, 81754731-81754761
360	PROS1	3	0.99064500246184	19	2031	93595831, 93595923-93595929, 93595973-93595977, 93595988-93595993
361	ARL13B	3	0.98834498834499	15	1287	93762028-93762042
362	ARL6	3	0.99465240641711	3	561	97503817, 97503844, 97503882
363	IQCB1	3	0.99387868670006	11	1797	121489403-121489409, 121547767-121547770
364	ATP2C1	3	0.99859649122807	4	2850	130650931-130650934
365	NPHP3	3	0.96694214876033	132	3993	132423068, 132438549-132438674, 132441000, 132441014, 132441084, 132441095, 132441105
366	FOXL2	3	0.98054818744474	22	1131	138664689, 138664864-138664872, 138664876, 138664878, 138664883-138664890, 138664897, 138665022
367	MRPS22	3	0.99907663896584	1	1083	139075855
368	PLOD2	3	0.98858146684234	26	2277	145791128-145791137, 145795694-145795702, 145804618, 145804623, 145804634, 145804643, 145804648, 145804684, 145804693
369	GFM1	3	0.99955673758865	1	2256	158399920
370	IFT80	3	0.99914089347079	2	2328	160000363-160000364
371	PLD1	3	0.99968992248062	1	3225	171431763
372	SOX2	3	0.99685534591195	3	954	181430230, 181430536, 181430539
373	OPA1	3	0.99376640419948	19	3048	193354984-193354991, 193354995, 193355000-193355002, 193355014-193355018, 193355050, 193355070
374	IDUA	4	0.96330275229358	72	1962	980876, 980879, 980887, 980896, 995815-995818, 996261, 996264, 996608-996656, 996692-996696, 996715, 997146-997152
375	HTT	4	0.99268215081133	69	9429	3076605-3076643, 3076645-3076654, 3076656-3076657, 3076659-3076666, 3076672, 3076693, 3076765, 3076773, 3076778-3076779, 3105588, 3213784-3213786
376	DOK7	4	0.98877887788779	17	1515	3465239-3465248, 3465256-3465257, 3465265-3465267, 3465270, 3465277
377	EVC2	4	0.99923605805959	3	3927	5578113-5578115
378	EVC	4	0.99932863376972	2	2979	5713145, 5713190
379	CC2D2A	4	0.99753238741518	12	4863	15581766-15581777
380	CNGA1	4	0.97456140350877	58	2280	47944129-47944136, 47954640, 47954652-47954664, 47954667-47954680, 47972913-47972927, 47972947, 47972975, 47972981, 47973024-47973025, 47973031, 47973071
381	SLC4A4	4	0.99969558599696	1	3285	72306441
382	ALB	4	0.99617486338798	7	1830	74274516-74274522
383	COQ2	4	0.96883116883117	36	1155	84193252-84193287
384	CDS1	4	0.9963924963925	5	1386	85562034-85562037, 85562096
385	PKD2	4	0.97523219814241	72	2907	88928936-88928957, 88928965-88929013, 88973280
386	SNCA	4	0.9290780141844	30	423	90749294-90749303, 90749307-90749310, 90749314-90749320, 90749323, 90749334-90749335, 90756701-90756702, 90756705-90756708
387	MANBA	4	0.99621212121212	10	2640	103611797-103611806
388	CISD2	4	0.95343137254902	19	408	103808512-103808522, 103808568-103808575
389	ANK2	4	0.99806299477851	23	11874	114117567, 114161703-114161724
390	BBS7	4	0.95204841713222	103	2148	122754450, 122775859-122775942, 122775966-122775975, 122782743-122782750
391	NR3C2	4	0.99627749576988	11	2955	149075965, 149075970, 149075977, 149075991-149075995, 149076003-149076005
392	FGG	4	0.99192364170338	11	1362	155533170-155533180
393	GLRB	4	0.9524765729585	71	1494	158041711-158041719, 158041722-158041728, 158041740-158041772, 158041786-158041793, 158041801-158041814
394	ETFDH	4	0.99946062567422	1	1854	159616752
395	GK	4	0.90854392298436	152	1662	166199234-166199253, 166199345, 166199361, 166199390, 166199426, 166199429, 166199563-166199610, 166199760-166199766, 166200025-166200066, 166200757-166200786
396	SDHA	5	0.93784461152882	124	1995	223682-223683, 233689-233697, 236639-236681, 236693-236699, 251108-251114, 251465-251506, 254571-254577, 256469-256475
397	TERT	5	0.98882024124743	38	3399	1294575, 1294718-1294735, 1295033, 1295036-1295037, 1295062, 1295065-1295068, 1295074, 1295082-1295091
398	SDHA	5	0.99388379204893	2	327	1593246, 1593266
399	DNAH5	5	0.99185585585586	113	13875	13737420-13737427, 13792275, 13792284-13792289, 13810296, 13817727, 13894889, 13894894, 13901467, 13916457-13916539, 13916549-13916558
400	NIPBL	5	0.97361853832442	222	8415	37014852-37014857, 37036481-37036589, 37048604-37048617, 37048631-37048638, 37048641, 37048646-37048715, 37048757-37048763, 37048772-37048775, 37051976, 37051981, 37051988
401	LIFR	5	0.99878567091682	4	3294	38482712, 38482715, 38482769, 38490373
402	OXCT1	5	0.98592450415867	22	1563	41862778-41862786, 41862803, 41862807-41862808, 41862813-41862822
403	GHR	5	0.99947835159103	1	1917	42629148
404	FGF10	5	0.99521531100478	3	627	44388715-44388717
405	ITGA2	5	0.99971799210378	1	3546	52386427
406	ERCC8	5	0.99328295549958	8	1191	60200679, 60217946-60217952
407	SMN2	5	0.9728813559322	24	885	69362945-69362961, 69372350-69372356
408	SMN2	5	0.98079096045198	17	885	70238369-70238385
409	AP3B1	5	0.99452054794521	18	3285	77311345-77311351, 77536736-77536737, 77536740-77536742, 77536756-77536760, 77563408
410	ARSB	5	0.98501872659176	24	1602	78280978-78281001
411	VCAN	5	0.99970562260818	3	10191	82836260-82836262
412	RASA1	5	0.94274809160305	180	3144	86659189, 86659192, 86659196-86659200, 86659224-86659226, 86659255-86659266, 86669980-86670137
413	MEF2C	5	0.9957805907173	6	1422	88024351, 88024361, 88024382-88024383, 88024429, 88024433
414	GPR98	5	0.99651181227208	66	18921	89940545, 89971932, 89971992, 90002176, 90002183-90002189, 90002200-90002201, 90007066, 90008205, 90020751, 90020760-90020764, 90020784-90020785, 90020790, 90049608, 90052969-90052978, 90144583-90144613
415	PCSK1	5	0.99911582670203	2	2262	95746573, 95746581
416	WDR36	5	0.98949579831933	30	2856	110436334-110436339, 110436345-110436346, 110436412, 110436419, 110441788, 110441824-110441842
417	APC	5	0.99988279418659	1	8532	112111326
418	HSD17B4	5	0.99502487562189	11	2211	118814574, 118814602, 118835045, 118835064, 118835127, 118861665-118861666, 118861674-118861677
419	HSD17B4	5	0.97872340425532	6	282	118861665-118861666, 118861674-118861677
420	FBN2	5	0.99553724682458	39	8739	127611760-127611767, 127645776-127645782, 127702071, 127702080, 127702086-127702089, 127702097-127702101, 127702111-127702123
421	MYOT	5	0.97327989311957	40	1497	137221742-137221748, 137221794-137221795, 137221814, 137221830, 137221841-137221850, 137221856-137221863, 137221867, 137221874-137221877, 137222624-137222629
422	MATR3	5	0.99921383647799	2	2544	138658531-138658532
423	DIAPH1	5	0.99607227022781	15	3819	140953462, 140953564-140953572, 140960413-140960417
424	NIPAL4	5	0.99785867237687	3	1401	156898679-156898680, 156898694
425	MSX2	5	0.98009950248756	16	804	174151853-174151868
426	NSD1	5	0.99987640588308	1	8091	176721963
427	GRM6	5	0.99468488990129	14	2634	178421520, 178421682-178421684, 178421687-178421689, 178421893-178421895, 178421899-178421901, 178421905
428	FLT4	5	0.99706744868035	12	4092	180038343, 180057023-180057024, 180076537-180076545
429	FOXC1	6	0.99638989169675	6	1662	1611528, 1611643, 1611803-1611805, 1612024
430	ATXN1	6	0.95955882352941	99	2448	16327861-16327959
431	HLA-H	6	0.936	48	750	29855849, 29856330, 29856368, 29856397, 29856426-29856427, 29856438, 29856459-29856460, 29856463, 29856516, 29856525, 29856534, 29856546, 29856550, 29856583-29856614, 29856643
432	TNXB	6	0.94919647485744	98	1929	31976899, 31976916, 31976926, 31977388-31977395, 31977525-31977555, 31977835-31977841, 31977994-31978001, 31978498-31978517, 31979422-31979428, 31979476-31979482, 31980130-31980136
433	CYP21A2	6	0.93010752688172	104	1488	32006202-32006237, 32006886, 32007846-32007852, 32007956-32007970, 32008183-32008201, 32008445-32008455, 32008893-32008907
434	TNXB	6	0.99308665252573	88	12729	32009631-32009664, 32010123-32010130, 32010269-32010275, 32010569-32010575, 32010728-32010735, 32011235, 32011248, 32012276-32012283, 32012330-32012336, 32012984-32012990
435	HLA-DQA1	6	0.94140625	45	768	32605257, 32605271, 32605295, 32609105-32609106, 32609169, 32609173, 32609192, 32609236-32609241, 32609286, 32609322, 32610387-32610407, 32610436, 32610445, 32610495, 32610501, 32610519, 32610533-32610535
436	HLA-DQB1	6	0.66666666666667	262	786	32629124-32629173, 32629193-32629194, 32629199, 32629224-32629234, 32629946, 32629955, 32632575-32632725, 32632738, 32632742, 32632745, 32632748-32632749, 32632753, 32632795, 32632815-32632844, 32634283, 32634300-32634302, 32634318, 32634341, 32634355, 32634373
437	COL11A2	6	0.99808098253694	10	5211	33140131-33140138, 33140368-33140369
438	SYNGAP1	6	0.93973214285714	243	4032	33388042-33388108, 33393612-33393648, 33393659-33393680, 33411513-33411532, 33411535, 33411553-33411559, 33411565-33411603, 33411605-33411610, 33411614-33411657
439	RUNX2	6	0.95913154533844	64	1566	45390411-45390413, 45390419-45390423, 45390432, 45390439, 45390446-45390481, 45390484-45390497, 45390505, 45390521-45390523
440	CD2AP	6	0.9921875	15	1920	47563645, 47563674-47563677, 47563680-47563681, 47563716-47563723
441	MUT	6	0.94718153573014	119	2253	49403295-49403297, 49409553-49409589, 49409596-49409601, 49409607-49409622, 49409634, 49409645-49409650, 49409654-49409684, 49419326-49419336, 49421349-49421356
442	PKHD1	6	0.99893660531697	13	12225	51497424, 51497439, 51887686-51887696
443	EYS	6	0.98346581875994	156	9435	64940568-64940572, 64940575-64940577, 64940580, 65016880-65016883, 65098618, 65098667-65098668, 65098695, 65523271-65523299, 65523305-65523351, 65523393-65523398, 65523402-65523403, 65523415, 65523433, 65523443-65523444, 65596590-65596629, 65596640, 65596689-65596691, 65596699, 66053940, 66063358-66063362
444	LMBRD1	6	0.99383857054837	10	1623	70409079, 70451701-70451709
445	COL9A1	6	0.99819233550253	5	2766	70981372, 70981375, 70981378-70981380
446	RIMS1	6	0.98897420752117	56	5079	72952017-72952040, 73001667-73001672, 73001692-73001699, 73108714, 73108744-73108751, 73108762-73108766, 73108781-73108784
447	BCKDHB	6	0.99236641221374	9	1179	80877462, 80881029-80881032, 80881061, 80881091, 80881095, 80881105
448	RARS2	6	0.99942429476108	1	1737	88231206
449	OSTM1	6	0.99900497512438	1	1005	108395779
450	FIG4	6	0.9985315712188	4	2724	110081478-110081481
451	LAMA2	6	0.9983979493752	15	9363	129486737-129486744, 129513902, 129513906-129513907, 129670502, 129670505, 129670508-129670509
452	ENPP1	6	0.98164146868251	51	2778	132171184, 132203486-132203533, 132203590, 132203599
453	PEX7	6	0.97530864197531	24	972	137167226, 137167230-137167231, 137167253-137167258, 137167274-137167275, 137167278, 137167302-137167304, 137167311-137167319
454	PEX3	6	0.99643493761141	4	1122	143792536, 143792539, 143792563-143792564
455	SYNE1	6	0.998370841858	43	26394	152545698, 152545759-152545760, 152545764, 152545773-152545775, 152545787-152545790, 152558047-152558052, 152583290-152583291, 152583304-152583306, 152599385-152599386, 152642395, 152642401-152642404, 152708462-152708474, 152737829
456	PARK2	6	0.99141630901288	12	1398	162475177-162475188
457	TBP	6	0.94411764705882	57	1020	170871025-170871030, 170871038-170871052, 170871055, 170871058-170871064, 170871067, 170871070-170871088, 170871091-170871098
458	LFNG	7	0.86578947368421	153	1140	2559496-2559558, 2559570-2559574, 2559601-2559622, 2559625-2559629, 2559639-2559641, 2559644-2559651, 2559656-2559658, 2559662-2559680, 2559688, 2559700-2559705, 2559751-2559755, 2559785, 2559875-2559880, 2559894-2559896, 2565100, 2565103-2565104
459	PMS2	7	0.97489378138277	65	2589	6013150-6013156, 6029442-6029447, 6029460, 6037054, 6045523-6045529, 6045558-6045600
460	TWIST1	7	0.7504105090312	152	609	19156793-19156944
461	DNAH11	7	0.99528440907751	64	13572	21630536-21630539, 21630553-21630585, 21630628-21630633, 21630916, 21630927, 21630932, 21630938-21630946, 21893990, 21893993, 21894003-21894008, 21894018
462	FAM126A	7	0.99680715197957	5	1566	23017899, 23017903-23017906
463	DFNA5	7	0.98926894701543	16	1491	24742427-24742442
464	HOXA13	7	0.7892030848329	246	1167	27239300, 27239304, 27239307, 27239310-27239354, 27239376-27239394, 27239397-27239406, 27239409-27239410, 27239412-27239477, 27239491-27239590, 27239624
465	GARS	7	0.99954954954955	1	2220	30640719
466	BBS9	7	0.97597597597598	64	2664	33303902-33303940, 33303964-33303986, 33313524, 33376216
467	GLI3	7	0.99894581488509	5	4743	42005585-42005589
468	CCM2	7	0.97752808988764	30	1335	45039933-45039962
469	ASL	7	0.99928315412186	1	1395	65553830
470	KCTD7	7	0.99540229885057	4	870	66094156-66094159
471	NCF1	7	0.96727272727273	27	825	72640033-72640039, 72643704-72643723
472	ELN	7	0.9967816091954	7	2175	73442531, 73442540-73442545
473	NCF1	7	0.9923273657289	9	1173	74193642, 74193668, 74203005-74203007, 74203011-74203014
474	HGF	7	0.99359853680841	14	2187	81399256, 81399263-81399269, 81399280-81399285
475	ABCB4	7	0.99947916666667	2	3840	87037424-87037425
476	AKAP9	7	0.99513817809621	57	11724	91609603-91609647, 91707176-91707179, 91714961-91714964, 91722465, 91722468-91722470
477	KRIT1	7	0.99004975124378	22	2211	91843960-91843963, 91867003, 91867009, 91867020-91867024, 91867040-91867045, 91867068-91867072
478	PEX1	7	0.99948078920042	2	3852	92134105-92134106
479	COL1A2	7	0.99585466959278	17	4101	94030899, 94030913-94030914, 94030918-94030921, 94049553, 94049569, 94052286-94052293
480	SGCE	7	0.9882005899705	16	1356	94252639-94252654
481	SLC26A5	7	0.99507829977629	11	2235	103017278-103017288
482	SLC26A4	7	0.99914639351259	2	2343	107323692, 107323954
483	DLD	7	0.9921568627451	12	1530	107545454-107545465
484	MET	7	0.99976036424635	1	4173	116397718
485	CFTR	7	0.95588566284042	196	4443	117144328, 117188713-117188766, 117188794-117188800, 117188838-117188877, 117230482-117230493, 117234988-117235044, 117235055-117235065, 117235069-117235071, 117235079, 117235084-117235093
486	AASS	7	0.99928083423229	2	2781	121769511, 121769578
487	IMPDH1	7	0.99555555555556	8	1800	128049838-128049845
488	FLNC	7	0.99914404499878	7	8178	128498187-128498193
489	ATP6V0A4	7	0.97938961553706	52	2523	138394374-138394406, 138394416-138394422, 138394426, 138394443-138394451, 138394473, 138394492
490	BRAF	7	0.99348109517601	15	2301	140434519, 140507801-140507805, 140624407-140624408, 140624410-140624414, 140624421, 140624425
491	PRSS1	7	0.84274193548387	117	744	142458434-142458454, 142458483-142458514, 142459625-142459629, 142459664-142459682, 142459874-142459878, 142460313, 142460335, 142460339, 142460366-142460397
492	CLCN1	7	0.99865183687226	4	2967	143047476-143047479
493	CNTNAP2	7	0.9974974974975	10	3996	145813983-145813988, 145813994-145813997
494	KCNH2	7	0.98247126436782	61	3480	150644736-150644738, 150644761-150644762, 150644765-150644766, 150644780, 150644798, 150644804-150644807, 150648903-150648905, 150648914, 150671862-150671866, 150671871-150671882, 150671886-150671888, 150674969-150674973, 150674983-150675001
495	SHH	7	0.98632109431245	19	1389	155595777, 155595794-155595796, 155595799-155595806, 155596108-155596114
496	MNX1	7	0.86567164179104	162	1206	156802608, 156802652-156802750, 156802771-156802782, 156802830, 156802895-156802940, 156802968-156802970
497	MCPH1	8	0.99840510366826	4	2508	6289072-6289075
498	TUSC3	8	0.99904489016237	1	1047	15480662
499	ANK1	8	0.99929750614682	4	5694	41566377-41566380
500	HGSNAT	8	0.99685534591195	6	1908	42995689, 42995702, 42995754-42995757
501	CHD7	8	0.99888814765399	10	8994	61749493, 61749506-61749507, 61749513-61749515, 61749518-61749520, 61749523
502	DECR1	8	0.98809523809524	12	1008	91057143, 91057147-91057148, 91057160-91057161, 91057167-91057173
503	TMEM67	8	0.98661311914324	40	2988	94777685-94777687, 94784862, 94784874, 94811912-94811915, 94811925-94811937, 94827586-94827598, 94827626, 94827630, 94828630, 94828635-94828636
504	VPS13B	8	0.98607637151909	167	11994	100123385-100123422, 100123438-100123495, 100123503-100123507, 100146926, 100146955, 100160138, 100287461, 100513957-100513971, 100513979-100514024, 100847886
505	KIAA0196	8	0.99885057471264	4	3480	126056099-126056101, 126068952
506	KCNQ3	8	0.99503627338679	13	2619	133492572-133492578, 133492584, 133492765-133492769
507	TG	8	0.99855543517515	12	8307	133882071, 134144056-134144066
508	CYP11B1	8	0.96560846560847	52	1512	143958513-143958533, 143958572-143958602
509	CYP11B2	8	0.99338624338624	10	1512	143993983, 143994026-143994032, 143996539, 143996553
510	PLEC	8	0.9954464603344	64	14055	144996220-144996235, 144996251-144996252, 144996255, 144996374-144996378, 144997100-144997105, 144997889, 144997892, 144998911-144998918, 145003826-145003847, 145006199-145006200
511	GPT	8	0.98725687458082	19	1491	145731668, 145731671, 145732013-145732025, 145732032-145732035
512	RECQL4	8	0.99972429004687	1	3627	145739089
513	DOCK8	9	0.99888888888889	7	6300	452043, 452050-452055
514	KCNV2	9	0.995115995116	8	1638	2718729-2718732, 2718764-2718767
515	GLIS3	9	0.99570354457573	12	2793	4117945-4117956
516	JAK2	9	0.96999117387467	102	3399	5077478-5077545, 5077555-5077580, 5090819-5090822, 5090827-5090830
517	GNE	9	0.99292661361627	16	2262	36217434-36217449
518	VPS13A	9	0.9802624671916	188	9525	79824395, 79824424, 79824440, 79841384-79841388, 79841400-79841403, 79896783-79896810, 79896818-79896842, 79897040-79897041, 79897101, 79908420-79908424, 79910601, 79910607-79910612, 79929011-79929014, 79929024-79929031, 79932531-79932549, 79932571-79932597, 79932605-79932614, 79933366, 79934543, 79938016-79938017, 79938061, 79946952-79946955, 79946961, 79946972-79946974, 79946991-79946994, 79959101-79959108, 79996906-79996910, 79996921-79996922, 79996929-79996932, 79996939, 79996948-79996950
519	ROR2	9	0.99858757062147	4	2832	94486022-94486025
520	XPA	9	0.99026763990268	8	822	100451871-100451878
521	FOXE1	9	0.9572192513369	48	1122	100616308-100616329, 100616698, 100616701-100616725
522	TGFBR1	9	0.99140211640212	13	1512	101867538-101867540, 101867551-101867557, 101867560-101867561, 101867566
523	INVS	9	0.98780487804878	39	3198	102866824-102866827, 102866834, 103015292-103015293, 103015360-103015377, 103046719-103046720, 103046728-103046731, 103046735, 103046738, 103046741-103046746
524	FKTN	9	0.9963924963925	5	1386	108370212-108370216
525	IKBKAP	9	0.99799949987497	8	3999	111656265-111656272
526	MUSK	9	0.99616858237548	10	2610	113547807-113547814, 113562942, 113562952
527	CDK5RAP2	9	0.99982400563182	1	5682	123171422
528	NR5A1	9	0.997113997114	4	1386	127245167-127245170
529	LMX1B	9	0.99731903485255	3	1119	129456063-129456065
530	SETX	9	0.99838187702265	13	8034	135139877-135139886, 135153603-135153605
531	TSC1	9	0.99856938483548	5	3495	135771986-135771990
532	CEL	9	0.8560105680317	327	2271	135946012-135946018, 135946654-135946971, 135946985, 135946991
533	SURF1	9	0.97231450719823	25	903	136223305-136223329
534	ADAMTS13	9	0.99579831932773	18	4284	136293839-136293840, 136293848, 136293860-136293867, 136293876-136293882
535	COL5A1	9	0.99129961935835	48	5517	137534066-137534069, 137534077-137534120
536	LHX3	9	0.97187758478081	34	1209	139090568, 139090879-139090905, 139094833-139094838
537	INPP5E	9	0.98966408268734	20	1935	139333325-139333340, 139333343-139333346
538	NOTCH1	9	0.99882629107981	9	7668	139440197-139440205
539	AGPAT2	9	0.95340501792115	39	837	139581743-139581745, 139581747, 139581751-139581783, 139581787, 139581790
540	SLC34A3	9	0.99222222222222	14	1800	140127719, 140128330, 140128333-140128339, 140128610-140128613, 140128616
541	EHMT1	9	0.99974339235309	1	3897	140513501
542	FANCB	X	0.99961240310078	1	2580	14877374
543	SMS	X	0.99091734786558	10	1101	21958982-21958991
544	ARX	X	0.96151568975725	65	1689	25031375-25031385, 25031653-25031655, 25031663-25031678, 25031706-25031712, 25031777-25031802, 25031806, 25031812
545	NR0B1	X	0.99929228591649	1	1413	30327319
546	DMD	X	0.99773919334419	25	11058	32398645-32398652, 32398655, 32404523-32404524, 32490354-32490355, 32490362, 32827633-32827639, 32867882-32867884, 32867887
547	RPGR	X	0.89505637467476	363	3459	38145298-38145301, 38145304, 38145324-38145679, 38150697, 38163970
548	TSPAN7	X	0.99733333333333	2	750	38546872, 38546882
549	NYX	X	0.99861687413555	2	1446	41333513, 41333519
550	EBP	X	0.98412698412698	11	693	48382326-48382336
551	FGD1	X	0.9996534996535	1	2886	54494259
552	ARHGEF9	X	0.99677627337202	5	1551	62898332-62898336
553	AR	X	0.95367354325009	128	2763	66765156-66765222, 66765239-66765265, 66766362-66766391, 66766395-66766398
554	IGBP1	X	0.99803921568627	2	1020	69366493-69366494
555	MED12	X	0.98500153045608	98	6534	70338605-70338616, 70338645, 70338657-70338660, 70338688-70338695, 70360597, 70360602-70360603, 70360609-70360614, 70360617-70360632, 70360648-70360652, 70360663-70360674, 70360682-70360688, 70361109-70361110, 70361112, 70361115, 70361118-70361122, 70361130-70361144
556	GJB1	X	0.99647887323944	3	852	70444379-70444381
557	TAF1	X	0.96849700809574	179	5682	70586165-70586343
558	SLC16A2	X	0.98968512486428	19	1842	73641382-73641385, 73641389-73641391, 73641401-73641403, 73641409-73641413, 73641463, 73641467, 73641470, 73641741
559	ATRX	X	0.99799438427597	15	7479	76875977-76875978, 76875981-76875993
560	ATP7A	X	0.99955585165445	2	4503	77258620, 77276457
561	BRWD3	X	0.98761323719726	67	5409	79936984-79936991, 79936997-79936998, 79942465-79942468, 79958982, 79959044, 79991487, 79991500, 79991567-79991578, 80001069, 80001073-80001077, 80064940-80064970
562	ZNF711	X	0.99956255468066	1	2286	84520183
563	CHM	X	0.99643221202854	7	1962	85128144-85128145, 85128148-85128150, 85128159-85128160
564	PCDH19	X	0.99879007864489	4	3306	99663568-99663570, 99663574
565	COL4A5	X	0.9998022933966	1	5058	107834403
566	UPF3B	X	0.99035812672176	14	1452	118977164-118977177
567	CUL4B	X	0.99744711889132	7	2742	119680441-119680444, 119694348-119694350
568	OCRL	X	0.99889135254989	3	2706	128674765-128674766, 128674773
569	PHF6	X	0.98816029143898	13	1098	133547602-133547614
570	HPRT1	X	0.93759512937595	41	657	133620514-133620554
571	SLC9A6	X	0.99952516619183	1	2106	135104856
572	ZIC3	X	0.98290598290598	24	1404	136648985-136648987, 136651110-136651115, 136651122, 136651131-136651133, 136651141-136651143, 136651148-136651151, 136651154-136651157
573	SOX3	X	0.97986577181208	27	1341	139585952, 139586145-139586150, 139586161, 139586490, 139586494, 139586498-139586499, 139586502-139586510, 139586512, 139586517-139586520, 139586856
574	FMR1	X	0.99315429173249	13	1899	147019082-147019094
575	MTM1	X	0.99889624724062	2	1812	149828879-149828880
576	SLC6A8	X	0.87473794549266	239	1908	152954030-152954034, 152954044-152954053, 152954068-152954247, 152954259, 152959470-152959472, 152959687-152959704, 152959799-152959813, 152960547-152960553
577	ABCD1	X	0.95531724754245	100	2238	153008473-153008487, 153008510-153008525, 153008675-153008678, 153008785-153008791, 153008949-153008987, 153009137-153009155
578	AVPR2	X	0.99372759856631	7	1116	153172062-153172067, 153172073
579	MECP2	X	0.96192384769539	57	1497	153295952, 153295955, 153296184-153296187, 153363061-153363101, 153363107-153363108, 153363111-153363114, 153363119-153363122
580	OPN1LW	X	0.97899543378995	23	1095	153416319-153416325, 153421809-153421824
581	OPN1MW	X	0.97442922374429	28	1095	153453450-153453456, 153458939-153458954, 153458997-153459001
582	OPN1MW	X	0.97899543378995	23	1095	153490568-153490574, 153496057-153496072
583	IKBKG	X	0.96728016359918	16	489	153868355-153868370

Effect rank	Variant	Phase/ Zygosity	Allele freq	Impact	Evaluation	Summary / Info
3	PPP2R1B-G90D	het unknown	0.008	Dominant pathogenic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
2	PCSK9-V474I	homozygous	0.859	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	PCSK9-G670E	homozygous	0.848	Unknown benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	C3-P314L	het unknown	0.079	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2	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	NEFL-S472Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
2	APOB-S4338N	homozygous	0.725	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	APOB-E4181K	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	APOB-I2313V	het unknown	0.964	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	APOB-Y1422C	homozygous	0.994	Unknown benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	APOB-A618V	het unknown	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	APOB-T98I	het unknown	0.149	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2	AGTR2-G21V	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
2	NPC1-I858V	homozygous	0.480	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
2	NPC1-H215R	homozygous	0.222	Complex/Other protective	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.75	LRP5-A400V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.75	LRP5-V667M	het unknown	0.007	Recessive pathogenic	High clinical importance, uncertain	This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.
1.75	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.
1.5	KCNE2-T8A	het unknown		Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5	BRCA2-T1915M	het unknown	0.012	Unknown protective	Low clinical importance, uncertain	Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed.
1.5	BRCA2-V2466A	homozygous	0.954	Dominant benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5	PRNP-M129V	het unknown	0.258	Complex/Other protective	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.25	AMPD1-P48L	het unknown	0.047	Unknown benign	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1.25	AMPD1-Q12*	het unknown	0.041	Recessive pathogenic	Low clinical importance, likely	Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.
1.25	GUCY2D-G439R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25	GUCY2D-P701S	het unknown	0.096	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
1	DLL3-F172C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 5 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	DLL3-L218P	het unknown	0.650	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	MAPT-P202L	het unknown	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	MAPT-Q230R	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 5 Polyphen 2: 0.895 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	MAPT-D285N	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
1	MAPT-V289A	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	MAPT-R370W	het unknown	0.116	Unknown benign	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	MAPT-S447P	het unknown	0.055	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CPN2-V536M	homozygous	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
1	CPN2-Q509R	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	CPN2-A305T	homozygous	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests
1	PAICS-S148C	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	C19orf55-R120H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	C19orf55-G398Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CELA1-L210Shift	homozygous	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
1	CELA1-M59V	homozygous	0.142	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging)
1	CELA1-Y5P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	CELA1-V3Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SEBOX-L207S	het unknown	0.913	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	SEBOX-W10Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	VDR-M1T	homozygous	0.687	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1	SLC5A6-L573F	homozygous	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
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	VSIG10L-Q860Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	VSIG10L-R592Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-M356I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-N3T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	CUL7-Q813R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CUL7-P333L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ZNF480-C3Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HADHB-T2TT	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	ZNF880-N106Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZNF880-N140NN	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF880-R198S	homozygous	0.354	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF880-N202H	homozygous	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF880-Q406R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF880-K471R	homozygous	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	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	HSH2D-S223Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ADAM3A-L329Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ADAM3A-R215G	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF167-N494Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	C17orf77-C207*	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	ATP8B1-A1152T	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ATP8B1-R952Q	het unknown	0.052	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	CCDC66-D5Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CCDC66-Q383R	homozygous	0.934	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CCDC66-RR460Q*	het unknown	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging), Nonsense mutation
1	CCDC66-RR460Q*	het unknown	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging), Nonsense mutation
1	DSG2-I293V	het unknown	0.036	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	SP110-M523T	het unknown	0.319	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	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	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	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	EGFR-R521K	homozygous	0.259	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	GATSL1-N17K	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
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	POR-A503V	homozygous	0.227	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	KCP-H313Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KCP-A16Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	C14orf104-D768G	het unknown		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	DCAF15-C482Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	PLEKHA2-P389Shift	homozygous	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	TCP11-G6Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KRT6C-V481I	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	KRT4-G160GAGGFGAGFGTGGFG	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	RYK-L17Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	TTN-V33180A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-P32685L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-R32034C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-G31702V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V30951I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I30146F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I26820T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I25199V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-T24045M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S22872N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-A19840P	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V19783I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-T18827I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-N16125D	het unknown	0.469	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I9278V	het unknown	0.450	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-N7559S	het unknown	0.231	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S7181N	het unknown	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-A7111E	het unknown	0.421	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-E6900A	het unknown	0.226	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-D6218H	het unknown	0.233	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S3419N	homozygous	0.850	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V3261M	homozygous	0.840	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S1295L	homozygous	0.881	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-K1201E	homozygous	0.519	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-T811I	het unknown	0.146	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	INSR-A2G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
1	ATG9B-A765Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	C8orf49-G26R	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	C8orf49-I81V	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	C8orf49-C194*	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	CLECL1-S52Shift	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	TP53-P72R	het unknown	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.
1	KCNJ11-V337I	het unknown	0.761	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	KCNJ11-K23E	het unknown	0.711	Unknown protective	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	FTCD-A438V	homozygous	0.031	Unknown not reviewed	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	ZNF598-M637T	homozygous	0.601	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	ZNF598-DM13AL	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF598-G6Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HLA-DQA1-F41S	homozygous	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-A68V	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-RW70KL	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-RW70KL	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-E73L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-E73L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-S75H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-SK75RQ	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-KF76RL	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-G84F	homozygous	0.122	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-R87T	homozygous	0.170	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-M89I	homozygous	0.200	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-A92L	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-A92L	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-M99L	homozygous	0.066	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-Y103S	homozygous	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-Q152H	homozygous	0.526	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-Q198E	het unknown	0.362	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-M230V	homozygous	0.782	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	B3GNT6-L316Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	B3GNT6-L335Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	PADI6-V343Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	GSTM1-L159V	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	GSTM1-K173N	homozygous	1.000	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	SCARF2-A832G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-A814G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-DV772EL	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-E764Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027242-N339D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NR_027242-L114P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NR_027242-Q97Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027242-L22P	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ALG6-S306F	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	NPRL3-L489Shift	homozygous	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZFPM1-E444Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZFPM1-L446Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	TNXB-R48P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	RRP15-K149N	homozygous	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging)
1	DGKK-L1014Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HRNR-R2761Q	homozygous	0.600	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-L2688S	het unknown	0.939	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-S929F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	HRNR-S799T	homozygous	0.569	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-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	SMPD1-AL48Del	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	PIK3R6-L609Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	GSPT1-V100A	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	GSPT1-P93L	het unknown		Unknown	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	USH2A-GL3485EN	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	USH2A-E2238A	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	USH2A-I2169T	het unknown	0.575	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	USH2A-R1486K	het unknown	0.646	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1	USH2A-G713R	het unknown	0.075	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	USH2A-A125T	homozygous	0.777	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	FAM58A-G4Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
1	AX746903-T82Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	TRIM64-R162S	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	TRIM64-V238M	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	TRIM64-E242V	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	TRIM64-Q358R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	TRIM64-Q405R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	KRTAP7-1-I61S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	KRTAP7-1-S51P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	KRTAP7-1-Y17Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HLA-DQB1-T217I	het unknown	0.256	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-S214N	het unknown	0.333	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-A172T	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-D167G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-G157A	homozygous	0.539	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-Y62S	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-T60S	homozygous	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-S27T	homozygous	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQB1-D12G	homozygous	0.395	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	BACH1-G471A	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	F5-L1285I	homozygous	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-Q534R	homozygous	0.991	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	BANK1-R61H	het unknown	0.221	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.75	BANK1-A383T	het unknown	0.233	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging)
0.75	BANK1-C650R	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.75	AKAP10-I646V	het unknown	0.434	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.75	AKAP10-R249H	het unknown	0.427	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.75	SYNE1-G8323A	het unknown	0.310	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.75	SYNE1-F7302V	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	SYNE1-W7132*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.75	SYNE1-L5015M	homozygous	0.866	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	SYNE1-S4596T	homozygous	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	SYNE1-K4121R	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	SYNE1-E4060D	homozygous	0.539	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.75	SYNE1-D1730E	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.75	SYNE1-V1035A	het unknown	0.632	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.75	SYNE1-L885V	het unknown	0.014	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.75	CHRNA5-D398N	het unknown	0.158	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.75	CILP-G1166S	homozygous	0.766	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.75	CILP-Q979R	homozygous	0.986	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.75	CILP-K575E	homozygous	0.974	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.75	CILP-I395T	het unknown	0.491	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HLA-H-D19Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-P32Q	het unknown	0.060	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-E34M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-Q61R	het unknown	0.288	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-C238S	homozygous	0.729	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRP11-P92R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (probably damaging)
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-T511A	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	PMS2-P470S	het unknown		Unknown benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	BCLAF1-S209C	het unknown	0.004	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.96 (probably damaging)
0.5	BCLAF1-G66A	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BCLAF1-R45M	het unknown	0.040	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NHLRC1-P111L	het unknown	0.250	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	DCDC2-S221G	het unknown	0.447	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DCDC2-P152A	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging)
0.5	F13A1-Y205F	het unknown	0.005	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	JARID2-R492C	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.854 (probably damaging)
0.5	SLC22A2-S270A	homozygous	0.876	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FLT4-R1146H	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLT4-H890Q	het unknown	0.355	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	TRIM7-G363S	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TRIM7-V258A	het unknown	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TRIM7-Q95E	het unknown	0.029	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.923 (probably damaging)
0.5	SKIV2L-Q151R	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SKIV2L-M214L	homozygous	0.823	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SKIV2L-V917M	het unknown	0.018	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	SKIV2L-A1071V	het unknown	0.176	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA2-R619H	het unknown	0.300	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LAMA2-R1844S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LAMA2-A2585V	homozygous	0.594	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PKHD1-Q4048R	homozygous	0.566	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-Q3899R	homozygous	0.546	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-R3842L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-L1870V	homozygous	0.905	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-A1262V	homozygous	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-R760C	homozygous	0.318	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	EFHC1-R182H	het unknown	0.038	Unknown benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.038 (benign), Testable gene in GeneTests
0.5	EYS-R2326Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-N1902I	homozygous	0.316	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-L1873V	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-S1517G	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-R1515W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-I1451T	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-L1419S	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-I1361V	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-Q1325E	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-I1263V	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-L852P	homozygous	0.655	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-G631S	homozygous	0.596	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-Q571R	homozygous	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRPH2-D338G	homozygous	0.761	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRPH2-R310K	homozygous	0.943	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PRPH2-Q304E	homozygous	0.877	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KIF6-W719R	homozygous	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.01 (benign)
0.5	COL11A2-P894L	het unknown	0.088	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	COL11A2-E276K	het unknown	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	TULP1-K261N	homozygous	0.805	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TULP1-I259T	homozygous	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TULP1-T67R	homozygous	0.877	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CLPS-R109C	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.977 (probably damaging)
0.5	DNAH11-E34L	homozygous	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-Q639R	het unknown	0.149	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-S654C	het unknown	0.078	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T1038A	homozygous	0.747	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-N2641S	homozygous	0.367	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-S3765P	het unknown	0.152	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-M4172V	het unknown	0.334	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T4177I	het unknown	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NOTCH4-C815G	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	NOTCH4-K117Q	het unknown	0.391	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	COL9A1-Q621R	het unknown	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL9A1-S339P	homozygous	0.507	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ROS1-S1109L	het unknown	0.040	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.284 (possibly damaging)
0.5	ROS1-T145P	het unknown	0.157	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.993 (probably damaging)
0.5	CCHCR1-R506Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	CCHCR1-E364D	het unknown	0.224	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CCHCR1-S253R	het unknown	0.371	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CCHCR1-W78*	homozygous	0.460	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Nonsense mutation
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	LAMA4-Y498H	het unknown	0.762	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA4-A283D	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA4-R154W	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging)
0.5	AIM1-Q293P	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AIM1-C491R	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.091 (benign)
0.5	AIM1-E1196A	homozygous	0.935	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.015 (benign)
0.5	AIM1-C1395Y	homozygous	0.243	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.958 (probably damaging)
0.5	LCA5-G656D	homozygous	0.377	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LCA5-D26A	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 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	TNXB-P2731R	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-G2518E	homozygous	0.658	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-H1161R	het unknown	0.568	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HSPA1L-E602K	het unknown	0.225	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	HSPA1L-T493M	homozygous	0.868	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	MICA-W37G	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-Y59C	het unknown	0.293	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-L145V	het unknown	0.191	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-V152M	het unknown	0.314	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-E196K	het unknown	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-G198S	het unknown	0.337	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-T204R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MICA-S229G	het unknown	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-R233W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	MICA-I236T	homozygous	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-R274Q	homozygous	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-C329R	het unknown	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-P330L	het unknown	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ASAH1-V246A	homozygous	0.797	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ASAH1-I93V	homozygous	0.384	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ASAH1-V72M	homozygous	0.386	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HOXA1-R73H	homozygous	0.743	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NDOR1-R30G	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.894 (probably damaging)
0.5	NOTCH1-V2285I	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TTLL10-V249A	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	TTLL10-S448N	het unknown	0.220	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PNPLA7-W1080R	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PNPLA7-V828A	homozygous	0.993	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PNPLA7-S8Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CUBN-S2717W	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-P2575R	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-C2162Y	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-S1935G	het unknown	0.127	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-P1559S	homozygous	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-F253S	het unknown	0.801	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	OPTN-K322E	homozygous	0.986	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SARDH-M648V	homozygous	0.599	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SARDH-R614H	homozygous	0.362	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5	ADAMTS13-Q448E	homozygous	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COL15A1-P705L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging)
0.5	GALNT12-E119V	het unknown	0.028	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.881 (probably damaging)
0.5	BAAT-R20Q	homozygous	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5	DFNB31-N796K	het unknown	0.197	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-V783A	het unknown	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-H752Q	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-M613T	het unknown	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-P562A	het unknown	0.036	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-A440T	het unknown	0.197	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-R364H	homozygous	0.968	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ABL1-S972L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	CDK5RAP2-V1540L	homozygous	0.714	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDK5RAP2-E289Q	homozygous	0.801	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PTCHD3-*768Q	homozygous	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PTCHD3-I584M	homozygous	0.963	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PTCHD3-M521T	homozygous	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PTCHD3-D473G	homozygous	0.499	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging)
0.5	PTCHD3-C407G	het unknown	0.490	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (probably damaging)
0.5	PTCHD3-S309Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ERCC6-Q1413R	het unknown	0.145	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ERCC6-R1213G	het unknown	0.159	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	ERCC6-M1097V	het unknown	0.153	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AX746750-S137Shift	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ABCC2-Y39F	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COL17A1-M703V	homozygous	0.672	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-G436R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-G428S	homozygous	0.771	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-T210M	homozygous	0.557	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HABP2-T50M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ADRB1-G389R	homozygous	0.705	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HABP2-S32I	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	FRAT2-A83T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.607 (possibly damaging)
0.5	PLCE1-R548L	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5	PLCE1-R1575P	homozygous	0.517	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PLCE1-T1777I	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PLCE1-H1927R	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5	ANK3-K3123R	het unknown	0.110	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ANK3-Q2996H	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	CHAT-A120T	het unknown	0.149	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.013 (benign), 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	SLC29A3-R18G	homozygous	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC29A3-S158F	homozygous	0.453	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC29A3-V239I	homozygous	0.771	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC29A3-I326V	homozygous	0.824	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	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-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	MYOF-R1783Q	het unknown	0.042	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	ZMYND17-L417P	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.27 (possibly damaging)
0.5	FAM75A6-Q1020Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	FAM75A6-S1017*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	DNAI1-A8S	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	AF035281-S47Shift	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	AF035281-Q119R	het unknown	0.697	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF212-H293Y	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.777 (possibly damaging)
0.5	NOS3-D298E	homozygous	0.844	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MCPH1-R171S	homozygous	0.865	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-R304I	het unknown	0.075	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-D314H	het unknown	0.648	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-D392G	homozygous	0.979	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-T682N	het unknown	0.148	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	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	GRM6-L698V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.924 (probably damaging), Testable gene in GeneTests
0.5	PCM1-N159S	het unknown	0.728	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: 3 Polyphen 2: 0.986 (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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATP6V0A4-V2A	homozygous	0.680	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DDC-M17V	homozygous	0.979	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EPDR1-A36Shift	het unknown	0.012	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	AKAP9-M463I	het unknown	0.376	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AKAP9-K1335KQ	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AKAP9-N2792S	het unknown	0.271	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AKAP9-P2979S	homozygous	0.997	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CYP3A7-R409T	homozygous	0.669	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CFTR-V470M	homozygous	0.621	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RELN-S630R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.65 (possibly damaging), Testable gene in GeneTests
0.5	NAT2-I114T	homozygous	0.220	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BHLHE22-S28A	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BHLHE22-L62Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.889 (probably damaging)
0.5	BOP1-D78Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	BOP1-D78Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SHARPIN-P294S	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	AK094577-C82Shift	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	RECQL4-R1005Q	het unknown	0.258	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RECQL4-R766Shift	homozygous	0.278	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview
0.5	RECQL4-E267D	het unknown	0.471	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RECQL4-S92P	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KIF24-W218L	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	KIF24-M140V	het unknown	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.091 (benign)
0.5	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-N413S	het unknown	0.193	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.19 (benign), 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	PLEC-R2969H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-S2791P	het unknown	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-A2194V	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-H1459R	het unknown	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-R1386Q	het unknown	0.276	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-A641V	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CYP11B2-V386A	het unknown	0.029	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	XKR9-L222F	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.3 (possibly damaging)
0.5	PDE7A-R430K	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.861 (probably damaging)
0.5	PEX2-C184R	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CNGB3-T298P	homozygous	0.681	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CNGB3-C234W	homozygous	0.939	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TG-S734A	het unknown	0.698	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TG-M1028V	het unknown	0.696	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5	TG-D1312G	het unknown	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TG-D1838N	het unknown	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5	TG-R1999W	het unknown	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TG-R2530Q	homozygous	0.586	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5	TMEM67-I604V	homozygous	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AGA-T149S	homozygous	0.925	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	MTR-D919G	het unknown	0.262	Complex/Other protective	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	IRF2BP2-A254V	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	RYR2-Q2958R	homozygous	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TPO-A257S	homozygous	0.387	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TPO-T725P	homozygous	0.524	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TPO-V847A	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	HS1BP3-A388T	het unknown	0.155	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.012 (benign)
0.5	HS1BP3-P348R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.916 (probably damaging)
0.5	HS1BP3-V260M	het unknown	0.389	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AX746649-W43*	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	PCNXL2-H1176Y	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.955 (probably damaging)
0.5	PCNXL2-R117K	homozygous	0.252	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EPHX1-Y113H	het unknown	0.290	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (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	CACNA1S-L458H	het unknown		Unknown benign	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ASPM-Y2494H	homozygous	0.992	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPATCH2-M474V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging)
0.5	RAB3GAP2-S1092T	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.924 (probably damaging)
0.5	ENAH-G346Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ENAH-L342Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	LBR-S154N	homozygous	0.713	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ITSN2-A1534T	homozygous	0.136	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.004 (benign)
0.5	ITSN2-R1337W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	ITSN2-R441K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ITSN2-V291I	homozygous	0.339	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GCKR-L446P	homozygous	0.673	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LCT-I362V	homozygous	0.944	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CFC1-W78R	homozygous	0.966	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NEB-I6534V	het unknown	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-A6277P	het unknown	0.691	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-R4389T	het unknown	0.724	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-M3461I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-W3348C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-K2613N	homozygous	0.138	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-V1491M	homozygous	0.453	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-Y1301H	homozygous	0.668	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-K1027N	homozygous	0.476	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	STAM2-T39Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SCN2A-R19K	het unknown	0.077	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5	LY75-K1347R	het unknown	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.895 (probably damaging)
0.5	LY75-K1321N	homozygous	0.862	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LY75-P1247L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.996 (probably damaging)
0.5	LY75-D807E	het unknown	0.488	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LY75-D692N	het unknown	0.087	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.519 (possibly damaging)
0.5	LY75-E268D	het unknown	0.174	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.018 (benign)
0.5	MERTK-R466K	homozygous	0.550	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MERTK-I518V	homozygous	0.550	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	ALK-D1529E	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALK-K1491R	het unknown	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ALK-I1461V	homozygous	0.982	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	SRD5A2-L88V	homozygous	0.636	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SRD5A2-A48T	het unknown	0.018	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LHCGR-N312S	homozygous	0.573	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EIF2AK3-S721Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EIF2AK3-A704S	homozygous	0.756	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EIF2AK3-Q166R	het unknown	0.690	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ALMS1-R392C	het unknown	0.409	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-S524SP	het unknown	0.578	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-V671G	homozygous	0.857	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-G1414A	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-I1875V	het unknown	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-I2070T	het unknown	0.066	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-S2111R	het unknown	0.327	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-R2284P	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-R2826S	het unknown	0.404	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-N2856S	het unknown	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-R4029K	het unknown	0.527	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RTN4-D357V	het unknown	0.029	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	PRG4-R180W	homozygous	0.225	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	PRG4-T604A	homozygous	0.144	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PRG4-C746S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NCF2-P454S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NCF2-H389Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NCF2-K181R	homozygous	0.471	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CPT2-V368I	het unknown	0.477	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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: 3 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	STIL-H985R	homozygous	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	STIL-A86V	homozygous	0.633	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TACSTD2-D216E	het unknown	0.158	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.5	TACSTD2-E147D	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.738 (possibly damaging)
0.5	INADL-P336H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	INADL-E362A	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.96 (probably damaging)
0.5	INADL-I870M	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	INADL-R1282H	het unknown	0.497	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.01 (benign)
0.5	INADL-V1360L	het unknown	0.563	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LEPR-K109R	het unknown	0.332	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5	LEPR-Q223R	homozygous	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5	L1TD1-V246A	homozygous	0.554	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	L1TD1-V309M	homozygous	0.508	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	L1TD1-K329N	het unknown	0.089	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	L1TD1-L602Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	L1TD1-T613I	het unknown	0.111	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.992 (probably damaging)
0.5	POMGNT1-M623V	homozygous	0.878	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	BMP8B-R389H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.97 (probably damaging)
0.5	MTHFR-A222V	het unknown	0.250	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5	PLEKHG5-E779Del	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PLEKHG5-A470T	het unknown	0.067	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PLEKHG5-T294S	het unknown	0.267	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKB-R27L	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKB-A214G	homozygous	0.815	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKB-A287V	homozygous	0.820	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCNKB-M562T	homozygous	0.856	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CROCC-R7G	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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-T1072M	het unknown	0.059	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.994 (probably damaging)
0.5	CROCC-S2012SPPS	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 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	LDLRAP1-R9G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LDLRAP1-S202P	homozygous	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.5	NEGR1-Y347S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	MSH4-Y589C	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.963 (probably damaging)
0.5	KCNJ9-A366V	het unknown	0.018	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	RHBG-G76D	het unknown	0.236	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RHBG-G315R	het unknown	0.550	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RHBG-P424Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	RHBG-H428R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SLAMF1-P333T	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	PVRL4-P104T	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	MYOC-K398R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5	FMO4-G372S	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	FLG-HQ2716PK	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-Q1914R	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	ABCA4-H423R	homozygous	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	GBP2-S303G	het unknown	0.622	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GBP2-P285A	het unknown	0.642	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GBP2-S281P	het unknown	0.044	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	DPYD-I543V	het unknown	0.199	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AGL-P1067S	het unknown	0.125	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	NGF-A35V	homozygous	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.5	COL11A1-P1335L	het unknown	0.479	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL11A1-D46E	het unknown	0.051	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DBT-S384G	homozygous	0.869	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCN1A-A1056T	homozygous	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ABCB11-V444A	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	TACC2-W1103R	homozygous	0.964	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	TACC2-T2482M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	TACC2-S2909T	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.981 (probably damaging)
0.5	NR3C2-V180I	homozygous	0.883	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC6A3-S360F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC6A3-S360Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
0.5	DNAH5-L2862F	homozygous	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-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	MOCS2-T50A	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.725 (possibly damaging), Testable gene in GeneTests
0.5	AMACR-E277K	homozygous	0.724	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AMACR-L201S	het unknown	0.738	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AMACR-G175D	het unknown	0.257	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AMACR-V9M	het unknown	0.368	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SYNPO2-R147Del	het unknown	0.273	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SYNPO2-T573A	het unknown	0.829	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SYNPO2-R1009W	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	PRSS12-R833Q	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.982 (probably damaging)
0.5	PRSS12-R55T	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.004 (benign)
0.5	UGT2A1-Y192*	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	UGT2A1-R75K	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EVC-Y258H	het unknown	0.721	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5	EVC-T449K	homozygous	0.871	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PDHA2-D194Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PDHA2-R286P	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	ADH1B-H48R	homozygous	0.678	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CFI-T300A	homozygous	0.957	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	HEXB-L62S	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HEXB-K121R	het unknown	0.227	Unknown benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AP3B1-V585E	homozygous	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	TCOF1-A665P	het unknown	0.067	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TCOF1-V887A	het unknown	0.168	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TCOF1-P1139R	het unknown	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ARAP3-P185H	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	FAT2-P4117L	het unknown	0.772	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-M3631I	het unknown	0.752	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.129 (benign)
0.5	FAT2-L3514S	het unknown	0.765	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-R3318W	het unknown	0.132	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.914 (probably damaging)
0.5	FAT2-F2428S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-Y1181H	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-P1164L	het unknown	0.361	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.005 (benign)
0.5	FAT2-G1004S	het unknown	0.400	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-F686S	het unknown	0.420	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAT2-R574C	het unknown	0.416	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.967 (probably damaging)
0.5	FAT2-V444A	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.968 (probably damaging)
0.5	KIF4B-R580L	homozygous	0.685	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KIF4B-I834Shift	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	F12-A207P	homozygous	0.951	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	PCDHB7-S568G	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	PCDHB7-PL575LV	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	AX746964-G175Shift	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	AX746964-K166I	het unknown	0.628	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ERAP2-K392N	homozygous	0.540	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ERAP2-N501Shift	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	GPR98-L1093F	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-V1951I	homozygous	0.820	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-P1987L	het unknown	0.333	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-Y2232C	het unknown	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-N2345S	het unknown	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-N2584S	homozygous	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-V3094I	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-E3471K	homozygous	0.834	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-E3867K	het unknown	0.356	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-E5344G	homozygous	0.903	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-V5427M	homozygous	0.918	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-V5876I	homozygous	0.424	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	SLCO6A1-A27V	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.275 (possibly damaging)
0.5	APC-V1822D	homozygous	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WDR55-C151R	homozygous	0.874	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	WDR55-Y235C	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	LECT2-G63E	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	LECT2-I58V	het unknown	0.621	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FBXL21-N31Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	FBXL21-V172Del	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	FBXL21-P208L	het unknown	0.812	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DOK7-P415S	het unknown	0.083	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	TNIP2-R73G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.989 (probably damaging)
0.5	COL4A3-G43R	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-L141P	homozygous	0.760	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-E162G	homozygous	0.764	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-D326Y	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-S1400P	het unknown	0.504	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-V1327M	het unknown	0.464	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-P1004L	het unknown	0.528	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-P482S	homozygous	0.493	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-A3012P	het unknown	0.843	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-M2988V	het unknown	0.042	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-A2960Del	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A3-M2927T	het unknown	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NDUFA10-A2G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.97 (probably damaging)
0.5	FARP2-R17H	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 1.0 (probably damaging)
0.5	GPR35-T108M	het unknown	0.162	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.112 (benign)
0.5	GPR35-T253M	het unknown	0.042	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.471 (possibly damaging)
0.5	GPR35-S294R	het unknown	0.465	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OBSL1-R1767Q	het unknown	0.491	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-Q1578R	homozygous	0.968	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-E1365D	het unknown	0.723	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-R723K	homozygous	0.770	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SPEG-R966Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	SPEG-P2189L	het unknown	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SPEG-R2790G	het unknown	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SPEG-H3079R	het unknown	0.410	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PDE11A-S921SS	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PDE11A-Y727C	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	PDE11A-R184Q	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LRP2-I4210L	homozygous	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	LRP2-K4094E	homozygous	0.744	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LRP2-A2872T	het unknown	0.327	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LRP2-N83S	het unknown	0.306	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (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	MSTN-K153R	het unknown	0.069	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ABCA12-S777T	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NBEAL1-Q2292E	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.708 (possibly damaging)
0.5	NBEAL1-I2330V	homozygous	0.817	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NBEAL1-T2492A	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.889 (probably damaging)
0.5	BMPR2-S775N	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TTLL3-M502R	homozygous	0.468	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TTLL3-R561*	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	XPC-Q939K	homozygous	0.683	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	XPC-A499V	homozygous	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	XPC-R492H	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CEP63-Q185H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	CASR-A986S	het unknown	0.070	Unknown benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5	CASR-E1011Q	homozygous	0.916	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PLSCR1-H262Y	het unknown	0.046	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	IFT80-S357F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	IDUA-H33Q	homozygous	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MCCC1-H464P	homozygous	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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	SLC9A10-V1058A	het unknown	0.075	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.021 (benign)
0.5	SLC9A10-M844V	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	SLC9A10-G826S	het unknown	0.288	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.023 (benign)
0.5	SLC9A10-S768I	het unknown	0.322	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.735 (possibly damaging)
0.5	SLC9A10-Q732K	homozygous	0.789	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.99 (probably damaging)
0.5	SLC9A10-T705I	homozygous	0.790	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.005 (benign)
0.5	SLC9A10-T424A	het unknown	0.306	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.239 (possibly damaging)
0.5	SLC9A10-I364V	het unknown	0.624	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC9A10-I348M	het unknown	0.626	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC9A10-I158V	het unknown	0.303	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	ZNF860-E348D	het unknown	0.481	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF860-F351L	het unknown	0.457	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF860-T358A	het unknown	0.463	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF860-H464R	het unknown	0.202	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF860-R609L	het unknown	0.433	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF860-R627C	het unknown	0.005	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	EOMES-Q6E	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.929 (probably damaging)
0.5	CNOT10-T348S	het unknown	0.036	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.478 (possibly damaging)
0.5	SCN5A-H558R	het unknown	0.215	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	GBE1-I334V	homozygous	0.979	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNASE1L3-R206C	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	EXD3-R653C	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.953 (probably damaging)
0.5	EXD3-C545Y	het unknown	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EXD3-E322D	homozygous	0.913	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EXD3-R220Q	homozygous	0.937	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EXD3-A160T	homozygous	0.868	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	STK4-P416L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	GFER-F166L	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	BCAT2-T186R	het unknown	0.066	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.5	PKD1-A4059V	het unknown	0.048	Unknown benign	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.779 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	PKD1-I4045V	het unknown	0.250	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-A3512V	het unknown	0.125	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	PKD1-R739Q	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	OR2C1-G16S	het unknown	0.245	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OR2C1-C149W	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OR2C1-R229H	het unknown	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OR2C1-F273Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DHDH-S66N	het unknown	0.545	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DHDH-A173Shift	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DHDH-V247A	het unknown	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FANCI-P55L	het unknown	0.022	Unknown benign	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CHRNA3-R37H	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	CHRNA3-LL22Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CHRNA3-LL22Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TM6SF1-P59S	het unknown	0.054	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	ADAMTSL3-H146R	homozygous	0.706	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.04 (benign)
0.5	ADAMTSL3-L290V	homozygous	0.833	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ADAMTSL3-V661L	homozygous	0.711	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ADAMTSL3-L869F	het unknown	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.148 (benign)
0.5	ADAMTSL3-T1660I	het unknown	0.106	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	AKAP13-G191R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.981 (probably damaging)
0.5	AKAP13-M452T	het unknown	0.559	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.038 (benign)
0.5	AKAP13-W494R	het unknown	0.581	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AKAP13-R574C	het unknown	0.568	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	AKAP13-G624V	het unknown	0.124	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.924 (probably damaging)
0.5	AKAP13-V845A	het unknown	0.566	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AKAP13-V897M	het unknown	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.264 (possibly damaging)
0.5	AKAP13-P1062A	het unknown	0.610	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.309 (possibly damaging)
0.5	AKAP13-D1086N	het unknown	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AKAP13-M1216T	het unknown	0.564	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AKAP13-G2461S	het unknown	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC28A1-L140LV	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SLC28A1-D521N	homozygous	0.226	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK311524-V28A	homozygous	0.903	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK311524-W181Shift	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ABAT-Q56R	homozygous	0.485	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CES1-A270S	het unknown	0.056	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CES1-D204E	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	CES1-S76N	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	ERCC2-K751Q	het unknown	0.218	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BCKDHA-T151M	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.034 (benign), Testable gene in GeneTests with associated GeneReview
0.5	PRX-G1132R	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRX-P1083R	het unknown	0.082	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	PRX-I921M	het unknown	0.261	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRX-V882A	het unknown	0.493	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5	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	SIX5-V693M	het unknown	0.261	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SIX5-P635S	het unknown	0.533	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	SIX5-L556V	homozygous	0.833	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PNMAL2-A599S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	PNMAL2-G163S	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.929 (probably damaging)
0.5	PNMAL2-G163S	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.929 (probably damaging)
0.5	ABCC6-M848V	homozygous	0.954	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ABCC6-H632Q	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ABCC6-V614A	het unknown	0.354	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	UQCRC2-R183Q	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging)
0.5	SALL1-V1275I	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CD19-L174V	homozygous	0.876	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CD19-R514H	het unknown	0.035	Unknown benign	Insufficiently evaluated	Prioritization score: 5 Polyphen 2: 0.944 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	HEXA-I436V	homozygous	0.748	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NR2E3-T318Shift	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift, Testable gene in GeneTests
0.5	SIX6-H141N	homozygous	0.314	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SYNE2-I574T	het unknown	0.118	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.5	SYNE2-M1969T	homozygous	0.637	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5	SYNE2-A2284V	homozygous	0.637	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5	SYNE2-S2359N	homozygous	0.676	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5	SYNE2-A2395T	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SYNE2-S2802G	homozygous	0.864	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5	SYNE2-I2942V	homozygous	0.622	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SYNE2-D3253H	homozygous	0.684	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5	ZFYVE26-R2411H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ZFYVE26-N1891S	homozygous	0.900	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ZFYVE26-C1457Y	het unknown	0.136	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5	ZFYVE26-T898S	het unknown	0.046	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5	PANK2-L111Q	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.26 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	WDHD1-P638A	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	TXNDC16-E486K	homozygous	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.011 (benign)
0.5	TXNDC16-A180G	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	PSMB5-R24C	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.982 (probably damaging)
0.5	LBP-D283G	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging)
0.5	KIAA1755-R1045W	het unknown	0.333	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.986 (probably damaging)
0.5	KIAA1755-E940K	het unknown	0.341	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KIAA1755-R510*	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	PCK2-Q121P	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LRRC16B-G1161V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.975 (probably damaging)
0.5	SIRPB1-A363P	homozygous	0.839	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SIRPB1-I229M	homozygous	0.848	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SIRPB1-R53H	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	MLH3-P844L	het unknown	0.298	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MLH3-N826D	homozygous	0.981	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AK094748-S209Shift	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DUOX2-S1067L	homozygous	0.662	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DUOX2-P138L	homozygous	0.926	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	FPR1-E346A	homozygous	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FPR1-N192K	het unknown	0.516	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FPR1-V101L	het unknown	0.336	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FPR1-I11T	homozygous	0.831	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	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	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	LTK-D535N	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	LTK-P227L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LTK-R42Q	het unknown	0.160	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DSC2-R798Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.433 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	DSC2-I776V	het unknown	0.223	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TSHR-E727D	homozygous	0.895	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	GALC-T641A	homozygous	0.892	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GALC-I562T	homozygous	0.446	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5	DEFB126-P106Shift	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	FCGBP-A5017V	het unknown	0.371	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	FCGBP-D4906H	het unknown	0.390	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.932 (probably damaging)
0.5	FCGBP-G4465S	het unknown	0.014	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.949 (probably damaging)
0.5	FCGBP-H3668R	homozygous	0.575	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FCGBP-P742S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LCAT-S232T	het unknown	0.014	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5	RNF43-L418M	homozygous	0.410	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.06 (benign)
0.5	RNF43-R343H	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	RNF43-P231L	het unknown	0.075	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.987 (probably damaging)
0.5	RNF43-I47V	het unknown	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	AP1S2-T35A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AP1S2-R29P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	BRIP1-S919P	homozygous	0.652	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCN4A-N1376D	het unknown	0.604	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCN4A-S524G	homozygous	0.938	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL1A1-T1075A	homozygous	0.961	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DLX4-N44S	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	NDUFS7-P23L	homozygous	0.437	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	HIGD1B-S86N	het unknown	0.237	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.013 (benign)
0.5	HIGD1B-D87N	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.97 (probably damaging)
0.5	GRIN3B-T157M	het unknown	0.183	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.938 (probably damaging)
0.5	GRIN3B-R404W	het unknown	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.976 (probably damaging)
0.5	GRIN3B-W414R	het unknown	0.681	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GRIN3B-G466Shift	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	GRIN3B-T577M	het unknown	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	GRIN3B-Y966N	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	GRIN3B-Q1006E	het unknown	0.433	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.051 (benign)
0.5	GRIN3B-APAEAPPHS1028Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	B4GALNT2-R523W	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging)
0.5	NPEPPS-G322D	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging)
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	CTDP1-T340M	het unknown	0.085	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	APOH-S107N	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	FECH-R102Q	het unknown	0.056	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYOM1-D1408N	het unknown	0.044	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	MYOM1-S181P	het unknown	0.449	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA3-P17G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LAMA3-N2815K	het unknown	0.130	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LAMA3-S2834G	homozygous	0.993	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TCEB3B-G636S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TCEB3B-A446T	het unknown	0.435	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging)
0.5	TCEB3B-A403S	het unknown	0.604	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TCEB3B-C254F	het unknown	0.522	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TCEB3B-R179P	het unknown	0.558	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TCEB3B-N115T	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.955 (probably damaging)
0.5	ALPK2-I2157V	homozygous	0.919	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ALPK2-R1884C	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.699 (possibly damaging)
0.5	ALPK2-H1767Y	het unknown	0.058	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.008 (benign)
0.5	ALPK2-Q1579R	het unknown	0.065	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.183 (benign)
0.5	ALPK2-A1551S	het unknown	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.092 (benign)
0.5	ALPK2-P1449S	het unknown	0.332	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.966 (probably damaging)
0.5	ALPK2-F1389Del	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ALPK2-H1174P	het unknown	0.641	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.998 (probably damaging)
0.5	ALPK2-L1057V	het unknown	0.641	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging)
0.5	ALPK2-EDTST1006Del	het unknown	0.453	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ALPK2-N916K	het unknown	0.397	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.992 (probably damaging)
0.5	ALPK2-T891I	homozygous	0.762	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ALPK2-T875P	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.007 (benign)
0.5	ALPK2-K829N	het unknown	0.393	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.923 (probably damaging)
0.5	ALPK2-R825T	het unknown	0.393	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ALPK2-G810S	het unknown	0.376	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.486 (possibly damaging)
0.5	ALPK2-H719Q	het unknown	0.398	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.215 (possibly damaging)
0.5	ALPK2-R136S	homozygous	0.465	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ALPK2-K2T	homozygous	0.926	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TNFRSF11A-H141Y	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.5	TNFRSF11A-A192V	het unknown	0.625	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COG1-N392S	homozygous	0.536	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAI2-A558T	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MIF4GD-Q126Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ITGB4-L1779P	homozygous	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	CD300LG-A231Shift	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SCAMP4-P199L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.958 (probably damaging)
0.5	PRODH2-P91R	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5	CTNS-T260I	homozygous	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CTNS-P380A	homozygous	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ENO3-N71S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ENO3-V85A	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	JAK3-K482W	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CYBA-V174A	het unknown	0.417	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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	ATP2C2-M165L	homozygous	0.997	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ATP2C2-G411S	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	ATP2C2-L604Q	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	DHODH-K7Q	homozygous	0.560	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.004 (benign)
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	RYR1-K1393R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RYR1-E1894K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRC50-K393R	homozygous	0.321	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	LRRC50-P502L	homozygous	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5	LRRC50-L633S	het unknown	0.261	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRC50-L659P	het unknown	0.352	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRC50-S675T	het unknown	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	PLCG2-R268W	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.95 (probably damaging)
0.5	MFSD6L-L85I	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging)
0.5	COX10-R159Q	homozygous	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TSPAN16-S233Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	TYK2-I684S	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5	TYK2-V362F	het unknown	0.268	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
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: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ZFR2-A577T	het unknown	0.391	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.005 (benign)
0.5	ZFR2-V210L	het unknown	0.389	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.55 (possibly damaging)
0.5	ZFR2-V183M	het unknown	0.230	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	ZFR2-S164L	het unknown	0.387	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.011 (benign)
0.5	ZFR2-G58S	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.933 (probably damaging)
0.5	ZNF414-A357P	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	ZNF414-P77S	het unknown	0.238	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF414-Q65R	het unknown	0.194	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.686 (possibly damaging)
0.5	KRT13-T298A	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT13-A187V	homozygous	0.715	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT13-A146G	het unknown	0.054	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MAN2B1-R337Q	homozygous	0.237	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MAN2B1-T312I	homozygous	0.324	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MAN2B1-L278V	het unknown	0.236	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RAI1-G90A	het unknown	0.281	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RAI1-P165T	het unknown	0.542	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	CYP4F2-V433M	homozygous	0.216	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.309 (possibly damaging)
0.5	CYP4F2-W12G	homozygous	0.058	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	SPECC1-M293L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SPECC1-Q490Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SPECC1-L491*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	MYO19-N176S	het unknown	0.063	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (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	VIPAR-DA481ES	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	VIPAR-D471E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KCNH3-E434Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	KCNH3-A435Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	TRIOBP-S217N	homozygous	0.413	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5	TRIOBP-A545T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TRIOBP-W1377R	homozygous	0.964	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5	ANKK1-G318R	homozygous	0.165	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.006 (benign)
0.5	ANKK1-H367Q	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	ANKK1-G442R	homozygous	0.541	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ANKK1-H490R	homozygous	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	HYLS1-C31R	homozygous	0.322	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.5	TCF20-M405V	homozygous	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.963 (probably damaging)
0.5	ATM-D1853N	het unknown	0.066	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATM-N1983S	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMD-R2937Q	homozygous	0.899	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMD-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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TYR-S192Y	het unknown	0.217	Unknown benign	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	ARSE-G424S	homozygous	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	PLCXD1-G305V	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.941 (probably damaging)
0.5	NR_027052-R29H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NR_027052-T53Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NR_027052-Y63N	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NR_027052-Q90*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	SNX19-L878R	homozygous	0.808	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SNX19-N753S	homozygous	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SNX19-L618F	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SNX19-V361L	homozygous	0.671	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLCO1B1-N130D	het unknown	0.663	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLCO1B1-P155T	het unknown	0.071	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LRRK2-R50H	homozygous	0.927	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRK2-M2397T	het unknown	0.526	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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	SLCO1B3-S112A	homozygous	0.646	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLCO1B3-M233I	homozygous	0.659	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.131 (benign)
0.5	GAB4-W206C	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	GAB4-G163*	het unknown	0.279	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Nonsense mutation
0.5	WNK1-T1056P	homozygous	0.838	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-C1506S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-M1808I	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	VWF-T1381A	homozygous	0.754	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	VWF-Q852R	homozygous	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	VWF-T789A	het unknown	0.355	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5	VWF-H484R	het unknown	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	PRODH-R521Q	homozygous	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HEBP1-E183D	het unknown	0.015	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.97 (probably damaging)
0.5	MYO7A-L16S	homozygous	0.550	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYO7A-S1666C	homozygous	0.610	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYO7A-L1954I	het unknown	0.552	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TPCN2-V219I	het unknown	0.038	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.782 (possibly damaging)
0.5	TPCN2-M484L	het unknown	0.071	Unknown benign	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.333 (possibly damaging)
0.5	TPCN2-L564P	homozygous	0.719	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TPCN2-G734E	het unknown	0.167	Unknown benign	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MRGPRX1-F273L	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.941 (probably damaging)
0.5	MRGPRX1-A46T	het unknown	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.033 (benign)
0.5	SLC6A5-G102S	homozygous	0.420	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC6A5-F124S	homozygous	0.803	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC6A5-A162G	homozygous	0.997	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PEX16-V116I	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RAB40A-H45L	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.907 (probably damaging)
0.5	H2BFM-Q73*	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	KCNE1L-P33S	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.979 (probably damaging)
0.5	DOCK1-S1756L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.981 (probably damaging)
0.5	DOCK1-A1857T	homozygous	0.855	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK160367-D257E	homozygous	0.676	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK160367-M356V	homozygous	0.820	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK160367-V377Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
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-S180A	het unknown	0.229	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-Y309F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TRPM5-G900S	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TRPM5-R578Q	het unknown	0.439	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	TRPM5-V335L	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.98 (probably damaging)
0.5	TRPM5-V254A	homozygous	0.794	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TRPM5-N235S	het unknown	0.542	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ATP7A-V767L	het unknown	0.332	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATP7A-E1350K	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MS4A14-I56Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	MS4A14-N177Y	het unknown	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.981 (probably damaging)
0.5	MS4A14-G584R	het unknown	0.513	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	NR_027444-W159Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CCDC87-L738R	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.996 (probably damaging)
0.5	AIP-Q228K	homozygous	0.732	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AIP-Q307R	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	RPGR-VEGE1025Del	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNXL3-Q258R	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PCNXL3-S458C	het unknown	0.248	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.065 (benign)
0.5	PCNXL3-R1917Q	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.932 (probably damaging)
0.5	SLC38A5-M451T	het unknown	0.071	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	VPS37C-L198S	homozygous	0.849	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	VPS37C-T8N	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging)
0.5	P2RY4-W348*	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	P2RY4-S234A	het unknown	0.237	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	P2RY4-N178T	het unknown	0.438	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ROM1-G118A	homozygous	0.931	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5	MEN1-T546A	homozygous	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TIRAP-S180L	het unknown	0.073	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SUCLA2-S199T	homozygous	0.722	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LARP4-F351L	het unknown	0.007	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.99 (probably damaging)
0.5	HPD-T33A	homozygous	0.884	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	MMAB-M239K	homozygous	0.469	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MMAB-R19Q	het unknown	0.283	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SGCG-R116H	het unknown	0.056	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5	SGCG-N287S	homozygous	0.843	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NR_028064-G139Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NR_028064-H49Q	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NR_028064-H41Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	HNF1A-I27L	het unknown	0.311	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HNF1A-A98V	het unknown	0.028	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HNF1A-S487N	het unknown	0.301	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HNF1A-S574G	homozygous	0.976	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CBR3-V244M	homozygous	0.398	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.014 (benign)
0.5	TPTE-L470P	homozygous	0.997	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TPTE-R229*	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	NRIP1-R448G	het unknown	0.029	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging)
0.5	UGGT2-N1268Y	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	UGGT2-S328A	homozygous	0.852	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC24A6-L561Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SLC24A6-C559Y	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.942 (probably damaging)
0.5	MVK-S52N	het unknown	0.100	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ATXN2-L107V	homozygous	0.311	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ITGA7-R655H	het unknown	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ITGA7-R279H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT6B-I365V	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	PCK1-V184L	homozygous	0.856	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ITGB2-Q354H	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5	COL6A2-A68V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-I2486M	het unknown	0.373	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-V2214I	het unknown	0.326	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-S1195P	homozygous	0.703	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-R1055C	homozygous	0.631	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TTC3-M840T	homozygous	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	homozygous	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KRT83-H493Y	homozygous	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT83-I279M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SACS-V3369A	het unknown	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	SACS-V995F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5	COL18A1-PGP1362Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COL18A1-PGP1362Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COL18A1-A1533T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DIP2B-R484W	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	SLC19A1-H27R	homozygous	0.447	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.375	CFH-H402Y	het unknown	0.818	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	CFH-N638S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FANCA-G501S	het unknown	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FANCA-V6D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	ROR2-P799S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	ROR2-T245A	het unknown	0.619	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	GSTP1-I105V	het unknown	0.338	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.375	GSTP1-A114V	het unknown	0.045	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.018 (benign)
0.375	STXBP2-P334L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	STXBP2-I526V	het unknown	0.725	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	GLI2-S1115F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	GLI2-A1156S	het unknown	0.536	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	GLI2-D1306N	het unknown	0.595	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	GAA-H199R	het unknown	0.574	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	GAA-R223H	het unknown	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	GAA-R702H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	GAA-V780I	het unknown	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	FREM2-S745P	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.375	FREM2-F1070S	het unknown	0.527	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.375	FREM2-T1624I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.375	FREM2-R1668H	het unknown	0.123	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests
0.25	CASP10-L522I	het unknown	0.309	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NEUROD1-T45A	het unknown	0.754	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	KCNE1-S38G	het unknown	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	TRIB3-Q84R	het unknown	0.188	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	KISS1R-L364H	het unknown	0.875	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FMO2-S195L	het unknown	0.465	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CPO-M85I	het unknown	0.426	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25	CPO-S134R	het unknown	0.476	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MKKS-G532V	het unknown	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25	MKKS-R517C	het unknown	0.215	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	CD226-S307G	het unknown	0.423	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TNFRSF1B-M196R	het unknown	0.206	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.986 (probably damaging)
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	RRBP1-S766L	homozygous	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	RRBP1-L610H	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	RRBP1-Q551*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	XIAP-Q423P	het unknown	0.277	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.25	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	CTLA4-T17A	het unknown	0.463	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	KCNQ4-H455Q	het unknown	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25	LHX4-N328S	het unknown	0.389	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CASP8-K14R	het unknown	0.640	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ALS2-V368M	het unknown	0.869	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SLC16A2-S107P	het unknown	0.444	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DNAH14-T43S	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DNAH14-F405L	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DNAH14-L828V	homozygous	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-K1010R	homozygous	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-R1011Q	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-N1099Y	het unknown	0.677	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-M1110I	homozygous	0.663	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-Y1392D	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.007 (benign)
0.25	DNAH14-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-D3393E	het unknown	0.521	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-K3474E	het unknown	0.514	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-Q3556R	het unknown	0.106	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-V3627A	het unknown	0.514	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-R3670K	het unknown	0.517	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-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	FERMT1-R526K	het unknown	0.468	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ATRX-Q929E	het unknown	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NOTCH3-A2223V	het unknown	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ICAM1-V330M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ICAM1-K469E	het unknown	0.297	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	THAP7-A115P	het unknown	0.863	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	THAP7-A115P	het unknown	0.863	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	ABCG5-Q604E	het unknown	0.191	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25	ABCG8-Y54C	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25	ABCG8-V632A	het unknown	0.908	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SLC3A1-M618I	het unknown	0.406	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	NPHS1-E117K	het unknown	0.297	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25	FSHR-S680N	het unknown	0.605	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	FSHR-A307T	het unknown	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	GON4L-T1545Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	GON4L-M1418V	het unknown	0.383	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	GBA-K144R	het unknown	0.619	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	IL6R-D358A	het unknown	0.266	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.911 (probably damaging)
0.25	DMPK-L423V	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CASQ2-T66A	het unknown	0.427	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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-P2274L	het unknown	0.355	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.012 (benign), 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-Q2659H	het unknown	0.572	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25	PCNT-Q2792R	homozygous	0.732	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25	PTPN22-W620R	het unknown	0.970	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ZNF224-M118V	het unknown	0.793	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ZNF224-H162L	het unknown	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging)
0.25	ZNF224-K640E	het unknown	0.593	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	COL6A1-R850H	het unknown	0.264	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL6A1-S890L	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	OTOF-R82C	het unknown	0.229	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25	ATP6V1B1-M1T	het unknown	0.371	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ATP6V1B1-T30I	het unknown	0.117	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MMP9-Q279R	het unknown	0.477	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MMP9-R574P	homozygous	0.813	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MMP9-R668Q	het unknown	0.187	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SCO2-R20P	het unknown	0.690	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MYO7B-G21S	het unknown	0.461	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MYO7B-L1352Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CTH-S403I	het unknown	0.175	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	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	EDARADD-M9I	het unknown	0.726	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	KAL1-V534I	het unknown	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DL492456-R148H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DL492456-Y109C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DL492456-W104*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	SIGLEC12-R528W	het unknown	0.055	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.9 (probably damaging)
0.25	SIGLEC12-Y494S	het unknown	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SIGLEC12-T478M	het unknown	0.591	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.006 (benign)
0.25	SIGLEC12-H398Y	het unknown	0.269	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.069 (benign)
0.25	SIGLEC12-H217Q	het unknown	0.816	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.015 (benign)
0.25	SIGLEC12-A82V	het unknown	0.522	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	SIGLEC12-A66Shift	het unknown	0.867	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.25	SIGLEC12-P9Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	UBQLN4-A503Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	UBQLN4-I495M	het unknown	0.416	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	MOGS-P293S	het unknown	0.619	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MOGS-D239N	het unknown	0.561	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25	BC036909-I114M	homozygous	0.798	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	BC036909-G99Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	GGCX-R325Q	het unknown	0.454	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	SFTPB-D174A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SFTPB-T131I	het unknown	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	IL12RB1-G378R	het unknown	0.329	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	IL12RB1-M365T	het unknown	0.297	Unknown not reviewed	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: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	IL12RB1-R156H	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.029 (benign), 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	SCN1B-L210P	het unknown	0.424	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SCN1B-R214Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SCN1B-S248R	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SCN1B-R250T	het unknown	0.105	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	IL7R-I66T	het unknown	0.597	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	IL7R-V138I	het unknown	0.689	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	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	ACADS-G209S	het unknown	0.128	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25	B3GALTL-E370K	het unknown	0.612	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25	NR_002144-DDDFE68Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_002144-SE75P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_002144-L77Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	NR_002144-Q280R	homozygous	0.858	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NR_002144-Y307H	homozygous	0.858	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NR_002144-L312R	homozygous	0.856	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ATP7B-V1140A	het unknown	0.495	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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: 3 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: 3 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: 3 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: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	SLC25A15-I254L	het unknown	0.325	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	NEFM-P439T	het unknown	0.870	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NEFM-D464G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NEFM-S783Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	KRT1-K633R	het unknown	0.281	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	KRT1-SSYGSGG557Del	het unknown	0.426	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PFKM-R100Q	het unknown	0.164	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25	NBN-E185Q	het unknown	0.338	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RP1-R872H	het unknown	0.291	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	RP1-N985Y	het unknown	0.206	Unknown benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25	RP1-A1670T	het unknown	0.265	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	RP1-S1691P	het unknown	0.295	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	RP1-C2033Y	het unknown	0.186	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25	KRT5-D197E	het unknown	0.276	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25	CHRNA2-T125A	het unknown	0.644	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CHRNA2-T22I	het unknown	0.256	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ESCO2-A80V	het unknown	0.147	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL1A2-P549A	het unknown	0.907	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ABCB1-S893A	het unknown	0.625	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MYH6-V1101A	het unknown	0.422	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RPGRIP1-K192E	het unknown	0.446	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RPGRIP1-E1033Q	het unknown	0.256	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FAM20C-I320Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	FAM20C-N564D	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PLG-D472N	het unknown	0.151	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 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: 0 Polyphen 2: Unknown
0.25	GARS-P42A	het unknown	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	BBS9-A455T	het unknown	0.135	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LIG4-T9I	het unknown	0.132	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.966 (probably damaging)
0.25	C13orf40-R6075C	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-L6011P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-F5916L	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-N5750S	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-R5644T	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-S4943P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-G4893S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-V3805I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-T3015I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-T2812P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-G2410R	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-E2111Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-A1822P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-N1704H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-C1275*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	C13orf40-P773L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-I96V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-C82S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ELN-G422S	het unknown	0.225	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GLI3-P998L	het unknown	0.444	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	AOAH-I487Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	AOAH-D28N	homozygous	0.334	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.135 (benign)
0.25	TXNDC3-C208R	het unknown	0.740	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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	SLC30A8-R325W	het unknown	0.225	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	GYS2-Q655H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	GYS2-M363V	het unknown	0.729	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	F2-T165M	het unknown	0.280	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	MADD-V751M	het unknown	0.315	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PCDH15-D440A	het unknown	0.343	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MYO3A-R1313S	het unknown	0.620	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	C10orf68-I39V	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C10orf68-G388A	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C10orf68-K493Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	C10orf68-V607I	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ANXA11-R230C	het unknown	0.382	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (probably damaging)
0.25	BMPR1A-P2T	het unknown	0.549	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SBF2-Q1216E	het unknown	0.118	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25	TH-V108M	het unknown	0.416	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CALHM1-L86P	het unknown	1.000	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ABCC8-A1369S	het unknown	0.755	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LIPA-G23R	het unknown	0.139	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	LIPA-T16P	het unknown	0.251	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25	USH1C-E819D	het unknown	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	IGHMBP2-L201S	het unknown	0.650	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	IGHMBP2-T879K	het unknown	0.185	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ALG8-N222S	het unknown	0.120	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	DPAGT1-I393V	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ABCA1-K1587R	het unknown	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TRPM6-K1584E	het unknown	0.274	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25	TRPM6-V1393I	het unknown	0.160	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.25	CD163L1-E914*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	CD163L1-L523M	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	C12orf60-K65R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C12orf60-N103K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C12orf60-M184Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	GPT-H14N	het unknown	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FKTN-R203Q	het unknown	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25	IKBKAP-P1158L	het unknown	0.268	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	IKBKAP-C1072S	het unknown	0.270	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TTF1-A290S	het unknown	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TSC1-M322T	het unknown	0.150	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SETX-I2587V	het unknown	0.591	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SETX-T1855A	het unknown	0.508	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SETX-I1386V	het unknown	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SETX-G1252R	het unknown	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SETX-D1192E	het unknown	0.598	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	EXPH5-N1967D	homozygous	0.989	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	EXPH5-I1735Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	EXPH5-R19G	het unknown	0.355	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUSK-S159G	het unknown	0.134	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	AK293718-D97N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	AK293718-P73Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ENPP1-A124Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
0.25	ENPP1-K173Q	het unknown	0.404	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.15 (benign), Testable gene in GeneTests
0.25	C17orf55-V50L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C17orf55-A49Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	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	ABCG2-Q141K	het unknown	0.131	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.548 (possibly damaging)
0.25	ABCG2-V12M	het unknown	0.122	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	JUP-M697L	het unknown	0.520	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	BRCA1-S1634G	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	BRCA1-K1183R	het unknown	0.302	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	BRCA1-E1038G	het unknown	0.265	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	BRCA1-P871L	het unknown	0.555	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	UGT2B7-Y268H	het unknown	0.727	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	KRT10-G565GGYGGGSSSGG	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	KRT10-I101S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MANBA-T701M	het unknown	0.554	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MANBA-V253I	het unknown	0.343	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	AIPL1-D90H	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25	SLC22A16-H49R	het unknown	0.333	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SLC6A19-V252I	het unknown	0.192	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	FGB-R478K	het unknown	0.146	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	AK298931-E88Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	AK298931-W38*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	AK298931-T4S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MYO15A-A595T	het unknown	0.557	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MYO15A-W718G	het unknown	0.100	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MYO15A-C1977R	homozygous	0.746	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MYO15A-Y2682F	het unknown	0.215	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CNGA1-D187N	het unknown	0.228	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	TLR6-S249P	het unknown	0.855	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CDCP1-D709G	homozygous	0.867	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CDCP1-Q525R	het unknown	0.716	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CDCP1-N96Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	AXIN2-P50S	het unknown	0.264	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	UNC13D-K867E	het unknown	0.596	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ACOX1-I312M	het unknown	0.492	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SGSH-R456H	het unknown	0.302	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	FANCD2-P714L	het unknown	0.246	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HGD-Q80H	het unknown	0.742	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TBX4-G6A	het unknown	0.219	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.25	ITGA2B-I874S	het unknown	0.255	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TLR1-S602I	het unknown	0.727	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TLR1-N248S	het unknown	0.643	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	HTT-T1720N	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HTT-Y2309H	het unknown	0.459	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ITGB3-L59P	het unknown	0.109	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25	PLD1-A622S	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	CLCN2-T668S	het unknown	0.378	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	GLTPD2-R235Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	GLTPD2-V265L	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ACADSB-R13K	het unknown	0.171	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25	ACADSB-I316V	het unknown	0.055	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TRIM15-S324N	het unknown	0.155	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	LITAF-I92V	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SRCAP-T1101K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SRCAP-T1157Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	RPGRIP1L-D1264N	het unknown	0.103	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RPGRIP1L-G1025S	het unknown	0.171	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CDHR2-V424A	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CDHR2-M465L	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CDHR2-G564R	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CDHR2-N1122Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CDHR2-Q1124P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CDHR2-T1128M	het unknown	0.261	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CLCN7-V418M	het unknown	0.103	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GATM-Q110H	het unknown	0.651	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ELOVL4-M299V	het unknown	0.213	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	FIG4-V654A	het unknown	0.467	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SERPINA1-E400D	het unknown	0.220	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	SERPINA1-R125H	het unknown	0.140	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	MUT-I671V	het unknown	0.522	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SLC28A2-S75R	het unknown	0.253	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SPG11-F463S	het unknown	0.470	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GM2A-I59V	het unknown	0.642	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	GM2A-M69V	het unknown	0.826	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	BBS2-I123V	het unknown	0.251	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	BBS2-S70N	homozygous	0.992	Unknown benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FBN2-V965I	het unknown	0.714	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SLC22A4-I306T	het unknown	0.588	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	SLC22A4-L503F	het unknown	0.142	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	WDR36-I264V	het unknown	0.223	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	VCAN-K1516R	het unknown	0.480	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	VCAN-R1826H	het unknown	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25	VCAN-F2301Y	het unknown	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	VCAN-D2937Y	het unknown	0.352	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25	NR_027336-P160L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_027336-V73F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_027336-W23*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	ARSB-V358M	het unknown	0.249	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25	IL13-Q144R	het unknown	0.766	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	C5orf20-R117*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	C5orf20-N97D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C5orf20-T75P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SPINK5-Q267R	het unknown	0.475	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SPINK5-A335V	het unknown	0.381	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SPINK5-S368N	het unknown	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SPINK5-D386N	het unknown	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SPINK5-K420E	het unknown	0.380	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SPINK5-R711Q	het unknown	0.469	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SPINK5-E825D	het unknown	0.164	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SLC26A2-I574T	het unknown	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CETP-V422I	het unknown	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	GPR56-S281R	het unknown	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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	TAT-P15S	het unknown	0.110	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0	MTRR-I49M	het unknown	0.313	Recessive pathogenic	Low clinical importance, likely	This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
0	H6PD-R453Q	het unknown	0.407	Recessive pathogenic	Low clinical importance, uncertain	This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,746,006,275 bases (97.0% of callable positions, 90.8% of total positions)

Coding region coverage: 32,857,423 bases (98.9% of all genes, 99.4% of genes with clinical testing available)

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

hu7A4AD1 - GET-Evidence variant report

Variant report for hu7A4AD1

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