Variant report for huB1FD55

Data source: CGI sample GS01173-DNA_B07 from PGP sample 61499538
This report: evidence.pgp-hms.org/genomes?e2ab062d47ab5ee7486fec8f0978340d24a61105
Person ID: huB1FD55
public profile: my.pgp-hms.org/profile/huB1FD55
Download: source data, dbSNP and nsSNP report (129 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	PRPH-D141Y	High	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.00365206	Hypothesized to cause ALS (or increased susceptibility) in a recessive manner, but this is based on a single observation and may lack statistical significance. The mutant protein appears to form abnormal aggregates.	1
2	RYR2-G1886S	High	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.0613424	Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1885E, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.	1
3	HFE-C282Y	Low	Well-established	Well-established pathogenic Recessive, Carrier (Heterozygous)	0.0494516	This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition.	1
4	rs5186	Low	Likely	Likely pathogenic Unknown, Heterozygous	0.214878	This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.	1
5	MBL2-G54D	Low	Likely	Likely pathogenic Recessive, Carrier (Heterozygous)	0.103923	This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).	1
6	KRT5-G138E	Low	Likely	Likely pathogenic Unknown, Heterozygous	0.0521472	This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).	1
7	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
8	ELAC2-S217L	Low	Uncertain	Uncertain pathogenic Complex/Other, Heterozygous	0.273471	Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).	1
9	POLG-Q1236H	Low	Uncertain	Uncertain pathogenic Complex/Other, Homozygous	0.0581893	Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.	1
10	TGIF1-P83Shift	Low	Uncertain	Uncertain pathogenic Complex/Other, Homozygous	0.138889	Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.	1
11	RNASEL-R462Q	Low	Uncertain	Uncertain pathogenic Complex/Other, Heterozygous	0.278026	Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.	1
12	BRCA2-N372H	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.23656	This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.	1
13	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
14	CLEC7A-Y238X	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.0632088	This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.	1
15	WFS1-R611H	Low	Uncertain	Uncertain not reviewed Recessive, Carrier (Heterozygous)	0.400446	This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).	1
16	CYP2C9-R144C	Moderate	Well-established	Well-established pharmacogenetic Unknown, Heterozygous	0.0970982	This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.	1
17	ABCC6-R1268Q	Low	Uncertain	Uncertain pharmacogenetic Unknown, Heterozygous	0.218907	This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.	1
18	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
19	CASP10-V410I	Low	Likely	Likely protective Dominant, Heterozygous	0.0474066	Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).	1
20	CFH-V62I	Low	Likely	Likely protective Complex/Other, Heterozygous	0.391616	Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.	1
21	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
22	KCNJ11-K23E	Low	Likely	Likely protective Unknown, Homozygous	0.738148	This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.	1
23	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
24	IRS2-G1057D	Low	Uncertain	Uncertain protective Unknown, Heterozygous	0.232615	a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003).	1
25	LPL-S474X	Low	Uncertain	Uncertain protective Unknown, Heterozygous	0.0844953	This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.	1
26	DMD-R2155W	Low	Likely	Likely benign Unknown, Homozygous	0.0269529	Probably benign.	1
27	CACNA1S-L458H	Low	Likely	Likely benign Unknown, Homozygous	0.27282	Common polymorphism	1
28	FLT4-N149D	Low	Likely	Likely benign Unknown, Heterozygous	0.0725056	Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect.	1
29	MLH1-I219V	Low	Uncertain	Uncertain benign Dominant, Homozygous	0.239822	Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.	1
30	LOXL1-R141L	Low	Uncertain	Uncertain benign Complex/Other, Homozygous	0.255899	Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.	1
31	TAS2R38-A49P	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.431121	This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.	1
32	TPCN2-G734E	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.286166	Pigmentation allele.	1
33	TYR-S192Y	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.270682	This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).	1
34	MUSK-T100M	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.023413	Probably benign.	1
35	GUCY2D-A52S	Low	Uncertain	Uncertain benign Recessive, Carrier (Heterozygous)	0.21016	One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.	1
36	FANCA-S1088F	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0584681	Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.	1
37	BRCA1-Q356R	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0462911	One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.	1
38	APOB-Y1422C	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.999628	This position is almost certainly an error in the HG18 reference sequence.	1
39	NSD1-A2546T	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0254001	Benign, reported as a polymorphism.	1
40	NTRK1-H604Y	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0431307	Various databases and papers treat this variant as a non-pathogenic polymorphism, although it is fairly uncommon and is computational methods predict it to be damaging.	1
41	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
42	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
43	NTRK1-G613V	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0429448	Also called G607V, this variant has been reported as a nonpathogenic polymorphism.	1
44	TAS2R38-I296V	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.463376	This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.	1

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

Exome coverage: 32796288 / 33282720 = 98.54%

Row number	Gene	Chromosome	Coverage	Missing	Length	Missing regions
1	AGRN	1	0.93939393939394	372	6138	955553-955678, 955706-955708, 955748-955753, 976210, 976653, 976665-976668, 976728, 977056-977082, 979003-979013, 981861, 981867, 981919, 981922, 981926, 981958-981963, 981970-981978, 981981-981986, 982024-982026, 982031, 983395-983397, 983408-983409, 983419, 983601-983745, 984696, 984699, 985654-985660, 986833-986834
2	GABRD	1	0.96688741721854	45	1359	1950863-1950886, 1950892-1950894, 1950897-1950905, 1950912, 1950923-1950930
3	PEX10	1	0.99898063200815	1	981	2338318
4	NPHP4	1	0.99976640971736	1	4281	5925252
5	ESPN	1	0.82183235867446	457	2565	6485103-6485106, 6485111, 6488319-6488336, 6488378-6488392, 6488426-6488432, 6500406, 6500421-6500455, 6500482-6500488, 6500686-6500792, 6500826-6500868, 6501062, 6501097-6501103, 6505776-6505798, 6505814-6505830, 6505844-6505923, 6508701-6508733, 6508760-6508766, 6508829-6508830, 6508922-6508928, 6508954-6508988, 6512127-6512133
6	PLEKHG5	1	0.96864220758859	100	3189	6529463-6529464, 6534098-6534099, 6534103-6534120, 6534124-6534127, 6534130, 6534133-6534135, 6534165-6534168, 6534222-6534224, 6534521-6534523, 6534530-6534537, 6534547-6534584, 6534593-6534598, 6534607-6534613, 6534647
7	KIF1B	1	0.99736495388669	14	5313	10356996-10357003, 10357044, 10425557-10425558, 10425584-10425586
8	TARDBP	1	0.96144578313253	48	1245	11082315-11082362
9	MFN2	1	0.99956024626209	1	2274	12066749
10	CTRC	1	0.9913258983891	7	807	15770000-15770006
11	CLCNKA	1	0.99660852713178	7	2064	16360141-16360147
12	CLCNKB	1	0.99321705426357	14	2064	16373044-16373050, 16383399-16383405
13	ATP13A2	1	0.99689528648038	11	3543	17313568, 17322608-17322617
14	PINK1	1	0.99083619702176	16	1746	20960230, 20960275, 20960321, 20960325-20960327, 20960385-20960388, 20960398-20960403
15	HSPG2	1	0.99483910139648	68	13176	22175281-22175282, 22181422, 22191822, 22199495, 22263648-22263710
16	WNT4	1	0.92708333333333	77	1056	22469339-22469415
17	SEPN1	1	0.89028776978417	183	1668	26126722-26126904
18	KCNQ4	1	0.98754789272031	26	2088	41249766-41249788, 41284292-41284294
19	CLDN19	1	0.97333333333333	18	675	43201551-43201568
20	STIL	1	0.99612102404965	15	3867	47728588-47728599, 47767989-47767990, 47775975
21	ORC1	1	0.99149265274555	22	2586	52841114-52841117, 52851544-52851561
22	DHCR24	1	0.99161831076725	13	1551	55352584-55352588, 55352595-55352602
23	PCSK9	1	0.997594997595	5	2079	55505546, 55505553-55505555, 55529187
24	ALG6	1	0.98104575163399	29	1530	63881564, 63881573-63881600
25	CTH	1	0.9991789819376	1	1218	70883704
26	GLMN	1	0.97647058823529	42	1785	92731981-92732022
27	RPL5	1	0.98545861297539	13	894	93307338, 93307355-93307358, 93307360-93307367
28	ABCA4	1	0.99956024626209	3	6822	94490521, 94497527, 94497541
29	DPYD	1	0.99122807017544	27	3078	97564147, 97564150, 97847949, 97848010-97848017, 98060648-98060649, 98144691, 98144715, 98157302-98157313
30	AGL	1	0.99478147423353	24	4599	100340767-100340770, 100340781-100340784, 100380993-100381008
31	DBT	1	0.98274672187716	25	1449	100701043-100701067
32	COL11A1	1	0.96261682242991	204	5457	103364222-103364314, 103364511-103364512, 103364527-103364541, 103364547-103364550, 103377757, 103388929, 103412442, 103427435, 103427743, 103427771-103427782, 103427786, 103427800, 103435776-103435782, 103435784-103435828, 103440425, 103470208-103470217, 103496714, 103496787, 103548411, 103548414, 103548525-103548528
33	GSTM1	1	0.36834094368341	415	657	110230496-110230531, 110230792-110230816, 110230839-110230841, 110230854, 110231302, 110231670-110231672, 110231691, 110231710-110231751, 110231847-110231947, 110232893-110232988, 110233076-110233179, 110235881-110235882
34	NGF	1	0.99035812672176	7	726	115828691-115828696, 115828708
35	VANGL1	1	0.99936507936508	1	1575	116226624
36	HSD3B2	1	0.99910634495085	1	1119	119964974
37	PHGDH	1	0.99750312109863	4	1602	120286630-120286633
38	NOTCH2	1	0.97262675296656	203	7416	120539665-120539714, 120539739-120539784, 120539913-120539939, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960-120611967, 120612000-120612020
39	FLG	1	0.99803052683407	24	12186	152278434, 152279403-152279410, 152279726-152279732, 152279892, 152281350-152281356
40	GBA	1	0.98696461824953	21	1611	155204991-155205011
41	SEMA4A	1	0.99343832020997	15	2286	156131239-156131247, 156131254-156131259
42	NTRK1	1	0.98285236302802	41	2391	156830727-156830752, 156830779-156830791, 156843606, 156843610
43	MPZ	1	0.998712998713	1	777	161276186
44	SLC19A2	1	0.99799196787149	3	1494	169454958-169454960
45	F5	1	0.99580524344569	28	6675	169510325-169510344, 169510364-169510370, 169521940
46	DARS2	1	0.98968008255934	20	1938	173802554, 173802568-173802571, 173802577-173802584, 173803651-173803657
47	NPHS2	1	0.99739583333333	3	1152	179544824-179544825, 179544828
48	RNASEL	1	0.99730458221024	6	2226	182555110-182555112, 182555115-182555117
49	LAMC2	1	0.99972082635399	1	3582	183155508
50	HMCN1	1	0.9995268511947	8	16908	186022115, 186034414, 186052068, 186052083, 186113309-186113312
51	PDC	1	0.96491228070175	26	741	186418566-186418591
52	CDC73	1	0.99937343358396	1	1596	193111049
53	CFH	1	0.9672619047619	121	3696	196643067, 196643076-196643079, 196643090, 196648767-196648771, 196648853-196648864, 196648869-196648872, 196658603-196658610, 196658674-196658675, 196658706, 196659193, 196659283, 196659295, 196659346, 196682884, 196682920, 196697481, 196706605-196706615, 196706710, 196706715, 196706730-196706748, 196706751, 196716353-196716395
54	CFHR1	1	0.96273917421954	37	993	196797213-196797247, 196801042, 196801078
55	CFHR5	1	0.99122807017544	15	1710	196953091-196953092, 196953098, 196953211, 196953221-196953222, 196963281, 196967258, 196967269, 196967406-196967411
56	ASPM	1	0.99923327582902	8	10434	197060041, 197069606, 197072171, 197113179-197113180, 197113183, 197113214-197113215
57	CACNA1S	1	0.99982212735681	1	5622	201047111
58	CD46	1	0.99166666666667	10	1200	207956658-207956667
59	USH2A	1	0.99692485104747	48	15609	215914843-215914844, 215914847, 215916519-215916548, 215916563, 215916593, 215916596-215916600, 215916636, 216251484, 216369951, 216496841, 216496863, 216496868, 216496871, 216496885
60	GJC2	1	0.80984848484848	251	1320	228345540, 228345579-228345584, 228345593-228345597, 228345611-228345613, 228345624, 228345635, 228345639-228345642, 228345670, 228345675-228345683, 228345692-228345697, 228345701, 228345764, 228345780-228345784, 228345792, 228345803-228345831, 228345913-228345915, 228345980, 228345983, 228345986, 228346010-228346055, 228346066, 228346080-228346082, 228346085-228346108, 228346113-228346116, 228346141-228346170, 228346338-228346357, 228346364-228346372, 228346391-228346417, 228346475, 228346622-228346624, 228346632-228346633, 228346683
61	ACTA1	1	0.98677248677249	15	1134	229567914-229567928
62	GNPAT	1	0.9990210474792	2	2043	231401094-231401095
63	LYST	1	0.98430650534806	179	11406	235875372-235875403, 235875422-235875447, 235875479-235875486, 235875491-235875497, 235896981-235896985, 235897140, 235897168, 235897831-235897834, 235907313-235907314, 235907421, 235907425, 235915324-235915327, 235916354, 235944326-235944332, 235944351, 235945242-235945253, 235950500-235950504, 235950531-235950580, 235956814-235956819, 235956883, 235967911, 235967915-235967917
64	MTR	1	0.99921011058452	3	3798	237060942-237060944
65	RYR2	1	0.99570585077831	64	14904	237656299, 237656387, 237777834, 237791279-237791285, 237796906, 237798208, 237821244-237821277, 237821281-237821287, 237821321-237821322, 237838071, 237881767-237881770, 237881780-237881783
66	FH	1	0.99804305283757	3	1533	241661128, 241663862, 241672060
67	NLRP3	1	0.99903567984571	3	3111	247588009-247588011
68	NET1	10	0.99888330541597	2	1791	5493834-5493835
69	CUBN	10	0.99742457689478	28	10872	16960647, 17032385, 17032432, 17085835-17085841, 17085939, 17085944-17085945, 17085949, 17085958-17085961, 17142040-17142049
70	PTF1A	10	0.90577507598784	93	987	23481760-23481783, 23481871, 23481897-23481929, 23481941-23481975
71	MYO3A	10	0.99979385693671	1	4851	26385575
72	PDSS1	10	0.99358974358974	8	1248	26998658-26998665
73	RET	10	0.97518684603886	83	3345	43572707-43572779, 43596033-43596042
74	ERCC6	10	0.99152164212405	38	4482	50740804-50740841
75	CHAT	10	0.91944815309301	181	2247	50822246-50822256, 50822274-50822440, 50822454, 50822457, 50822469
76	PCDH15	10	0.98573611818645	84	5889	55582485, 55582488-55582491, 55616935-55616937, 55721621-55721652, 55826517, 55826615, 55973714-55973722, 55973732-55973751, 56128893, 56128948-56128950, 56128966, 56138655-56138662
77	CDH23	10	0.99990055688146	1	10056	73544794
78	VCL	10	0.99941262848752	2	3405	75871725-75871726
79	LDB3	10	0.99725274725275	6	2184	88476084-88476086, 88476245, 88476248, 88476417
80	BMPR1A	10	0.99499687304565	8	1599	88677025-88677032
81	PTEN	10	0.99917491749175	1	1212	89692886
82	LIPA	10	0.99916666666667	1	1200	90988003
83	HPS1	10	0.99952516619183	1	2106	100177369
84	ABCC2	10	0.9969814575248	14	4638	101578953-101578966
85	PAX2	10	0.99923017705928	1	1299	102566239
86	FBXW4	10	0.99919289749798	1	1239	103371143
87	HPS6	10	0.99742268041237	6	2328	103825323, 103827016-103827020
88	SUFU	10	0.98350515463918	24	1455	104263957-104263978, 104263987, 104309845
89	EMX2	10	0.99077733860343	7	759	119302934-119302940
90	FGFR2	10	0.99878197320341	3	2463	123246887-123246889
91	HTRA1	10	0.92238392238392	112	1443	124221169-124221235, 124221246-124221250, 124221256-124221263, 124221281-124221297, 124221309, 124221316, 124221324, 124221336, 124221367-124221371, 124221382-124221386, 124221437
92	OAT	10	0.99924242424242	1	1320	126097185
93	SLC25A22	11	0.97530864197531	24	972	792635, 792639-792645, 792666-792668, 792671-792673, 792686-792687, 792880-792886, 792901
94	PNPLA2	11	0.9993399339934	1	1515	819887
95	CTSD	11	0.94430992736077	69	1239	1775326-1775368, 1785022, 1785029, 1785036-1785042, 1785045, 1785057, 1785064-1785073, 1785078-1785082
96	TH	11	0.98412698412698	25	1575	2191929-2191945, 2191948, 2191951-2191954, 2191965-2191966, 2191999
97	KCNQ1	11	0.99606105366814	8	2031	2466332, 2466338-2466341, 2466505, 2466508-2466509
98	CDKN1C	11	0.71503680336488	271	951	2905903, 2905942-2905945, 2905957, 2905970-2905972, 2905999-2906002, 2906006-2906007, 2906016, 2906044-2906054, 2906062-2906216, 2906234, 2906240-2906241, 2906245, 2906319-2906321, 2906329, 2906391-2906396, 2906401-2906418, 2906440-2906479, 2906489-2906505
99	SMPD1	11	0.99525316455696	9	1896	6411935-6411941, 6412745-6412746
100	SBF2	11	0.99387387387387	34	5550	9838387-9838400, 9838404, 9983560, 10013978-10013995
101	USH1C	11	0.9662962962963	91	2700	17531044-17531047, 17531051, 17531113-17531129, 17531148-17531181, 17531232, 17531279, 17531303-17531335
102	LDHA	11	0.99299299299299	7	999	18422437-18422443
103	ANO5	11	0.95660102115244	119	2742	22261141, 22276922-22276925, 22276932-22276937, 22276961-22277068
104	PAX6	11	0.99921197793538	1	1269	31824310
105	WT1	11	0.96911196911197	48	1554	32456508-32456514, 32456685-32456714, 32456723, 32456726, 32456736-32456741, 32456757-32456758, 32456792
106	PDHX	11	0.99933598937583	1	1506	34982042
107	SLC35C1	11	0.99810606060606	2	1056	45827806, 45827840
108	PEX16	11	0.99519692603266	5	1041	45937363, 45937366-45937369
109	SLC39A13	11	0.99820788530466	2	1116	47431699, 47431728
110	TMEM216	11	0.99621212121212	1	264	61165280
111	BEST1	11	0.9971558589306	5	1758	61725758-61725761, 61725764
112	BSCL2	11	0.99928005759539	1	1389	62472930
113	SLC22A12	11	0.99879663056558	2	1662	64367289-64367290
114	SPTBN2	11	0.9997211766346	2	7173	66472528, 66481856
115	PC	11	0.99886909810574	4	3537	66619341-66619343, 66620096
116	AIP	11	0.99597180261833	4	993	67257559-67257562
117	TCIRG1	11	0.99839550742078	4	2493	67811346-67811349
118	LRP5	11	0.98411716171617	77	4848	68080183-68080246, 68131220, 68131238-68131243, 68131246-68131247, 68207352, 68207378, 68207381-68207382
119	DHCR7	11	0.98389355742297	23	1428	71146575-71146577, 71146584, 71146659-71146665, 71146675-71146686
120	MYO7A	11	0.99909747292419	6	6648	76922282-76922283, 76922292-76922295
121	TYR	11	0.99308176100629	11	1590	89017941-89017951
122	MTMR2	11	0.98861283643892	22	1932	95657068, 95657091-95657109, 95657111, 95657115
123	DYNC2H1	11	0.9784472769409	279	12945	102984294, 102984313-102984316, 102984364, 102984374, 102984388, 102984433-102984436, 102991490, 102991654-102991658, 102991668, 102991676, 102995903-102995909, 102999688, 102999705, 103024111, 103024159-103024172, 103024234-103024237, 103029406, 103029432-103029433, 103029513, 103029516, 103029524, 103029528, 103031689-103031690, 103031730, 103031744, 103031747, 103036759-103036761, 103043811-103043846, 103043908-103043924, 103043991, 103043997, 103044009-103044014, 103044032, 103052515-103052519, 103052540, 103052578-103052589, 103055668-103055671, 103059226-103059229, 103059234-103059236, 103059261-103059262, 103059269-103059275, 103059278-103059280, 103062246-103062274, 103062837, 103062919-103062925, 103062974, 103062985, 103070173, 103082533, 103082541, 103107164, 103114512-103114515, 103126880, 103126885-103126891, 103126894, 103126900-103126914, 103130682-103130686, 103173890-103173892, 103173901-103173906, 103173920, 103182638, 103191856-103191863, 103194621-103194638
124	ACAT1	11	0.99922118380062	1	1284	108005941
125	ATM	11	0.97830116672119	199	9171	108098352-108098385, 108098532-108098538, 108098550-108098596, 108098613-108098614, 108126957-108126964, 108126975-108127067, 108153438, 108153441, 108172472-108172473, 108188246-108188248, 108196165
126	RDX	11	0.9925799086758	13	1752	110124733, 110134685-110134696
127	DLAT	11	0.97685185185185	45	1944	111909968-111909981, 111909996-111909999, 111910008-111910034
128	APOA1	11	0.99751243781095	2	804	116706795-116706796
129	TECTA	11	0.99984532095901	1	6465	121031040
130	ROBO3	11	0.99807738524393	8	4161	124745098-124745101, 124745104-124745105, 124748635-124748636
131	WNK1	12	0.99846743295019	2	1305	977164-977165
132	WNK1	12	0.99930060148272	5	7149	994810-994813, 996460
133	CACNA1C	12	0.99893308946807	7	6561	2794934-2794940
134	KCNA1	12	0.99932795698925	1	1488	5020690
135	VWF	12	0.98803601042407	101	8442	6121282, 6122647-6122650, 6122709, 6122713-6122714, 6127655-6127661, 6127726-6127732, 6128167-6128173, 6128339-6128345, 6128449-6128451, 6128479, 6131925-6131932, 6131955-6131976, 6132003-6132033
136	TNFRSF1A	12	0.99926900584795	1	1368	6438612
137	ATN1	12	0.99188357122866	29	3573	7045390, 7045597, 7045600, 7045603-7045604, 7045892-7045909, 7045917-7045922
138	GYS2	12	0.99431818181818	12	2112	21712025-21712034, 21712051, 21712082
139	ABCC9	12	0.9905376344086	44	4650	21958982, 21998562-21998568, 21998572-21998573, 21998587-21998589, 22025604-22025607, 22025641, 22061064, 22063764-22063766, 22063791, 22063803, 22063806-22063818, 22063828-22063830, 22063843, 22063860, 22068675, 22068688
140	FGD4	12	0.99956540634507	1	2301	32751440
141	DNM1L	12	0.99909543193125	2	2211	32866241, 32883949
142	PKP2	12	0.99880668257757	3	2514	33049450-33049452
143	KIF21A	12	0.99538708383474	23	4986	39719661, 39719680-39719686, 39726750-39726755, 39726791, 39756900-39756906, 39756910
144	LRRK2	12	0.97705696202532	174	7584	40643674-40643684, 40645158, 40657611, 40677873-40677880, 40692110-40692121, 40716974-40716975, 40717016-40717053, 40761446-40761447, 40761459-40761513, 40761524-40761567
145	IRAK4	12	0.99276934201012	10	1383	44166772-44166775, 44166794, 44171512, 44180252, 44180256, 44180353-44180354
146	VDR	12	0.99376947040498	8	1284	48251303-48251308, 48251347-48251348
147	COL2A1	12	0.99977598566308	1	4464	48369780
148	MLL2	12	0.98844348140123	192	16614	49424127-49424133, 49424153-49424156, 49424170-49424186, 49426656-49426671, 49426726-49426743, 49426770, 49426774-49426779, 49426929-49426935, 49426956-49426966, 49427032, 49427057, 49427093, 49427259-49427304, 49427408-49427409, 49427655-49427687, 49427946-49427949, 49431860-49431865, 49434078-49434082, 49434285-49434286, 49434293-49434296
149	TUBA1A	12	0.96271929824561	17	456	49522195-49522211
150	ACVRL1	12	0.99933862433862	1	1512	52307362
151	KRT81	12	0.98221343873518	27	1518	52682999-52683005, 52684021-52684027, 52685115-52685127
152	KRT86	12	0.98836413415469	17	1461	52696925-52696933, 52697948-52697955
153	KRT6B	12	0.96519174041298	59	1695	52843577-52843585, 52843632-52843637, 52844378-52844385, 52845365-52845371, 52845432-52845438, 52845563-52845577, 52845798-52845804
154	KRT6C	12	0.97345132743363	45	1695	52865295-52865300, 52867024-52867030, 52867091-52867108, 52867230-52867236, 52867457-52867463
155	KRT6A	12	0.96637168141593	57	1695	52881617-52881623, 52884732-52884737, 52886542-52886559, 52886681-52886687, 52886907-52886925
156	KRT5	12	0.95205865764241	85	1773	52908809-52908819, 52908838-52908902, 52908917, 52908967, 52908972, 52909019-52909024
157	KRT1	12	0.9922480620155	15	1935	53070155-53070161, 53072484-53072485, 53072510-53072513, 53072517-53072518
158	GNS	12	0.9789029535865	35	1659	65141668-65141669, 65152990-65153022
159	LEMD3	12	0.98720760233918	35	2736	65612335-65612369
160	CEP290	12	0.96384408602151	269	7440	88443054, 88443060-88443061, 88443067, 88443070-88443071, 88462330-88462347, 88462371-88462381, 88471636, 88471649-88471654, 88471665-88471670, 88471674, 88472910-88472942, 88472986-88473006, 88477003, 88478511-88478534, 88479828, 88479846-88479848, 88479852, 88481623-88481641, 88481656, 88490693-88490699, 88490736-88490739, 88490746, 88496779, 88502866-88502868, 88505471, 88505534, 88505589, 88513940-88513962, 88514036-88514045, 88519038, 88519072-88519080, 88519116, 88519131-88519136, 88519142-88519146, 88520215, 88522752-88522760, 88522778, 88522782-88522786, 88522789, 88522794-88522795, 88530486, 88530501, 88530557, 88532949-88532968
161	TMPO	12	0.99952038369305	1	2085	98928018
162	SYCP3	12	0.9957805907173	3	711	102122900, 102122912, 102122972
163	IGF1	12	0.99829931972789	1	588	102813435
164	ATXN2	12	0.95281582952816	186	3942	112036624-112036625, 112036628-112036629, 112036710, 112036715-112036717, 112036733-112036741, 112036744-112036746, 112036752-112036766, 112036773, 112036779-112036827, 112036861, 112036896-112036904, 112036915-112036919, 112036936-112036946, 112036949-112036954, 112036973, 112037020-112037024, 112037027, 112037049-112037087, 112037093-112037106, 112037210, 112037218-112037219, 112037222-112037227
165	PTPN11	12	0.99102132435466	16	1782	112891157, 112891177-112891191
166	SDS	12	0.99290780141844	7	987	113831707-113831713
167	TBX5	12	0.99935773924213	1	1557	114804124
168	TBX3	12	0.99955197132616	1	2232	115112020
169	HNF1A	12	0.99736286919831	5	1896	121437408, 121437412, 121438902-121438904
170	ATP6V0A2	12	0.99961104628549	1	2571	124203247
171	SACS	13	0.99890829694323	15	13740	23907769-23907779, 23949273-23949276
172	PDX1	13	0.97183098591549	24	852	28494398-28494421
173	BRCA2	13	0.99863507848299	14	10257	32972622-32972635
174	FREM2	13	0.998738170347	12	9510	39261565-39261573, 39450256, 39450259, 39450269
175	SUCLA2	13	0.99066091954023	13	1392	48528276, 48528280-48528284, 48547471, 48571016-48571020, 48571023
176	RB1	13	0.99318263365626	19	2787	48878088, 48878091, 48934153, 48934216-48934227, 48941674-48941675, 49051519-49051520
177	ATP7B	13	0.99840836743975	7	4398	52523871-52523873, 52523877-52523880
178	CLN5	13	0.99918300653595	1	1224	77575041
179	ZIC2	13	0.90556597873671	151	1599	100634388-100634401, 100635008-100635010, 100637594-100637597, 100637636-100637637, 100637703-100637705, 100637723, 100637734-100637744, 100637805-100637877, 100637883-100637922
180	PCCA	13	0.99085505258345	20	2187	100909907-100909922, 100925450-100925452, 100962152
181	ERCC5	13	0.99834866713848	7	4239	103468786, 103468791-103468793, 103468807-103468808, 103468867
182	COL4A1	13	0.9998003992016	1	5010	110864266
183	TEP1	14	0.99936580416032	5	7884	20846265-20846269
184	SLC7A7	14	0.99544270833333	7	1536	23282122-23282128
185	PABPN1	14	0.79478827361564	189	921	23790693-23790756, 23790817, 23790843, 23790854-23790862, 23790870-23790872, 23790877-23790892, 23790903-23790904, 23790911-23790915, 23790930, 23790943-23791029
186	MYH7	14	0.99810606060606	11	5808	23886487-23886491, 23887585-23887590
187	FOXG1	14	0.74421768707483	376	1470	29236542-29236571, 29236588, 29236620-29236964
188	NKX2-1	14	0.98092868988391	23	1206	36986845-36986849, 36988373, 36988378-36988394
189	FANCM	14	0.97982755815845	124	6147	45623900, 45623911-45623919, 45623922, 45623928-45623934, 45623977-45623985, 45623988, 45623991-45624025, 45642299, 45646059-45646062, 45650633-45650650, 45650656-45650682, 45650900, 45650905-45650906, 45652988, 45667869-45667871, 45667903, 45667937, 45668079, 45668086
190	C14orf104	14	0.99721559268099	7	2514	50092558, 50100811, 50101349-50101352, 50101633
191	L2HGDH	14	0.9992816091954	1	1392	50750620
192	ATL1	14	0.96269554753309	62	1662	51054598-51054610, 51098962-51098968, 51098983-51099024
193	PYGL	14	0.99685534591195	8	2544	51381524-51381531
194	GCH1	14	0.99734395750332	2	753	55310831, 55310834
195	SYNE2	14	0.99194171009458	167	20724	64450592, 64457676-64457687, 64457698-64457705, 64457783-64457791, 64457798-64457799, 64457802-64457809, 64461817, 64467280-64467294, 64488120-64488123, 64488735, 64494378-64494401, 64498010, 64498016-64498017, 64498020, 64498027, 64516406-64516409, 64516412, 64519666-64519678, 64522727-64522764, 64522807, 64556318, 64556321, 64556349-64556359, 64556370-64556376
196	VSX2	14	0.99907918968692	1	1086	74706434
197	EIF2B2	14	0.96401515151515	38	1056	75471512-75471548, 75471593
198	MLH3	14	0.99816597890876	8	4362	75506708-75506715
199	ESRRB	14	0.99279633267845	11	1527	76964701, 76964779-76964783, 76964788, 76964791-76964794
200	GALC	14	0.97959183673469	42	2058	88416189-88416227, 88448565, 88448568-88448569
201	SPATA7	14	0.97444444444444	46	1800	88857758-88857765, 88859740-88859743, 88859812, 88859827-88859831, 88883149-88883176
202	TTC8	14	0.99870801033592	2	1548	89305842, 89327609
203	ATXN3	14	0.93554327808471	70	1086	92537355-92537357, 92559596-92559662
204	VRK1	14	0.91015952980688	107	1191	97304099-97304154, 97322509-97322530, 97322557-97322585
205	AMN	14	0.94787077826725	71	1362	103390144, 103396526, 103396583-103396599, 103396608-103396633, 103396635-103396640, 103396643-103396648, 103396654, 103396812-103396819, 103396913-103396916, 103396922
206	INF2	14	0.91733333333333	310	3750	105173771, 105173786, 105173859-105174149, 105174162-105174165, 105174167-105174170, 105174278-105174279, 105174285, 105174317, 105174323-105174327
207	NIPA1	15	0.82020202020202	178	990	23086234-23086411
208	OCA2	15	0.99523241954708	12	2517	28326939-28326942, 28326945-28326946, 28326972-28326977
209	TRPM1	15	0.99376558603491	30	4812	31294061-31294075, 31294312-31294319, 31320555-31320561
210	SLC12A6	15	0.99884158702577	4	3453	34547463-34547466
211	SPRED1	15	0.98876404494382	15	1335	38614463, 38614469-38614471, 38614482, 38614488-38614490, 38641665-38641666, 38641676-38641679, 38641704
212	CHST14	15	0.96463306808134	40	1131	40763446-40763470, 40763484-40763485, 40763503-40763508, 40763526-40763531, 40763588
213	CDAN1	15	0.99972855591748	1	3684	43026515
214	TTBK2	15	0.990093708166	37	3735	43067408, 43067856, 43103886-43103915, 43109256, 43109271, 43109290, 43164911, 43164916
215	STRC	15	0.98498498498498	80	5328	43896303-43896312, 43900150-43900156, 43903129, 43907745-43907751, 43910436-43910444, 43910858-43910903
216	STRC	15	0.99641025641026	7	1950	44007207-44007213
217	DUOX2	15	0.99806326662363	9	4647	45398351-45398359
218	GATM	15	0.99921383647799	1	1272	45670617
219	SLC12A1	15	0.99969696969697	1	3300	48577401
220	FBN1	15	0.99918755803157	7	8616	48737574, 48784719-48784720, 48784733-48784736
221	CEP152	15	0.99798590130916	10	4965	49036447, 49036500, 49036505, 49036521-49036526, 49061172
222	SCG3	15	0.97938877043355	29	1407	51974714-51974742
223	MAP2K1	15	0.99830795262267	2	1182	66779604-66779605
224	HCN4	15	0.96373200442968	131	3612	73614874-73614909, 73614920-73614940, 73615029-73615062, 73616166-73616168, 73616591, 73659861-73659863, 73660074-73660096, 73660125, 73660304-73660305, 73660365-73660371
225	PSTPIP1	15	0.99920063948841	1	1251	77328161
226	POLG	15	0.99650537634409	13	3720	89876828-89876839, 89876847
227	MESP2	15	0.98994974874372	12	1194	90320138-90320149
228	BLM	15	0.9802538787024	84	4254	91328152, 91337401-91337422, 91337442-91337487, 91337522-91337525, 91337535-91337538, 91337545-91337551
229	HBZ	16	0.82983682983683	73	429	203956-203977, 203992, 204007, 204076, 204271-204315, 204341-204342, 204374
230	HBM	16	0.99295774647887	3	426	216338-216339, 216439
231	IGFALS	16	0.99792960662526	4	1932	1841099-1841102
232	GFER	16	0.91909385113269	50	618	2034229, 2034232-2034235, 2034239-2034241, 2034281-2034282, 2034288-2034290, 2034294-2034295, 2034319-2034326, 2034334-2034341, 2034346-2034349, 2034351-2034358, 2034361, 2034373-2034374, 2034411-2034414
233	TSC2	16	0.99815634218289	10	5424	2103383-2103384, 2103394-2103397, 2103408, 2103433, 2103439-2103440
234	PKD1	16	0.92479863692689	971	12912	2139889, 2139892, 2139895, 2140925, 2140932, 2140970-2141019, 2141029-2141058, 2147917, 2147946-2147973, 2149745-2149766, 2149873-2149921, 2149952-2149972, 2150019-2150025, 2150056-2150072, 2150167-2150174, 2150245-2150284, 2150397, 2150478-2150484, 2152086-2152092, 2152186-2152193, 2152605-2152611, 2152922-2152928, 2153302, 2153308, 2153592-2153598, 2153691-2153697, 2153711-2153742, 2153764-2153770, 2153820-2153826, 2153871, 2154570-2154611, 2155875-2155895, 2155981-2156024, 2156174-2156198, 2156399-2156404, 2156442-2156462, 2156494-2156500, 2156520-2156547, 2156935-2156941, 2158353, 2158521-2158527, 2158954-2158965, 2159042-2159048, 2159096-2159104, 2159113-2159114, 2159117, 2159127, 2159258, 2159403-2159409, 2159580-2159581, 2159712-2159735, 2159960-2159966, 2160721, 2160769-2160775, 2160812, 2161178, 2161697-2161709, 2162357-2162364, 2162917-2162919, 2163171-2163186, 2163251, 2164808, 2166535, 2166559-2166595, 2166972-2166982, 2167624-2167638, 2167871-2167877, 2167932, 2167975-2168001, 2168056-2168075, 2168129-2168170, 2168193-2168215, 2168390, 2185555-2185598, 2185607, 2185662-2185690
235	ABCA3	16	0.99921798631476	4	5115	2354095-2354098
236	CREBBP	16	0.99577022786192	31	7329	3777731, 3778439, 3778443-3778447, 3778454-3778459, 3779027, 3779211, 3779420, 3779444-3779447, 3790422-3790430, 3830857, 3830860
237	GLIS2	16	0.99873015873016	2	1575	4387371-4387372
238	ALG1	16	0.94623655913978	75	1395	5128841-5128875, 5130993-5131000, 5131028-5131052, 5134815-5134821
239	PMM2	16	0.99595141700405	3	741	8891778, 8891796, 8891802
240	LITAF	16	0.99588477366255	2	486	11643581-11643582
241	ABCC6	16	0.9771719858156	103	4512	16313473-16313515, 16313679-16313685, 16315525-16315533, 16315576-16315611, 16315647-16315654
242	UMOD	16	0.99427977119085	11	1923	20344663-20344669, 20344688-20344690, 20360331
243	OTOA	16	0.99766081871345	8	3420	21742176-21742183
244	SCNN1B	16	0.99947997919917	1	1923	23360199
245	COG7	16	0.9978383052313	5	2313	23436162-23436166
246	PALB2	16	0.99943836001123	2	3561	23634354-23634355
247	ATP2A1	16	0.99800399201597	6	3006	28912091-28912094, 28914760-28914761
248	PHKG2	16	0.94021294021294	73	1221	30760150-30760195, 30760206-30760216, 30760219-30760232, 30760235-30760236
249	FUS	16	0.99430740037951	9	1581	31195279-31195284, 31195290, 31195293-31195294
250	PHKB	16	0.99786715417428	7	3282	47698803-47698808, 47698812
251	CYLD	16	0.99930118798043	2	2862	50788327, 50825474
252	SALL1	16	0.98943396226415	42	3975	51171452-51171458, 51175469, 51175644-51175645, 51175648-51175657, 51175660-51175677, 51175687-51175690
253	RPGRIP1L	16	0.98632218844985	54	3948	53672249-53672295, 53682914, 53691365-53691370
254	MMP2	16	0.99848714069592	3	1983	55513473-55513475
255	SLC12A3	16	0.99935337859683	2	3093	56899207, 56921840
256	GPR56	16	0.97722868217054	47	2064	57684245-57684247, 57695666-57695709
257	HSD11B2	16	0.95402298850575	56	1218	67465165-67465167, 67465170-67465179, 67465199-67465209, 67465214-67465216, 67465236, 67465239-67465247, 67465255-67465264, 67465286-67465289, 67469976-67469979, 67469992
258	LCAT	16	0.99244142101285	10	1323	67973976-67973977, 67976992-67976996, 67977002-67977003, 67977111
259	CDH3	16	0.99638554216867	9	2490	68679552-68679560
260	CDH1	16	0.99660249150623	9	2649	68771335-68771337, 68771342, 68771350-68771354
261	COG8	16	0.99836867862969	3	1839	69373258-69373260
262	GCSH	16	0.99808429118774	1	522	81116502
263	MLYCD	16	0.90688259109312	138	1482	83932787-83932793, 83932811-83932859, 83932877-83932910, 83932977-83932999, 83933009-83933027, 83933069, 83933099-83933102, 83933108
264	FOXF1	16	0.99473684210526	6	1140	86544210-86544213, 86544216, 86544978
265	JPH3	16	0.97774810858923	50	2247	87723268-87723274, 87723297-87723328, 87723345-87723355
266	CYBA	16	0.98469387755102	9	588	88709776, 88709803, 88709870-88709876
267	APRT	16	0.99815837937385	1	543	88876506
268	GALNS	16	0.9968132568515	5	1569	88923214-88923217, 88923263
269	SPG7	16	0.99748743718593	6	2388	89579415-89579418, 89579421, 89579426
270	FANCA	16	0.99862637362637	6	4368	89838109-89838110, 89838113-89838116
271	TUBB3	16	0.99260901699926	10	1353	90001927-90001929, 90001934-90001938, 90002039-90002040
272	PRPF8	17	0.99985730593607	1	7008	1557123
273	PAFAH1B1	17	0.99756690997567	3	1233	2579874-2579876
274	ASPA	17	0.99363057324841	6	942	3385068-3385072, 3402346
275	ENO3	17	0.9992337164751	1	1305	4858481
276	PITPNM3	17	0.96717948717949	96	2925	6358694-6358715, 6358724-6358794, 6459706, 6459719, 6459723
277	GUCY2D	17	0.98973429951691	34	3312	7906366-7906385, 7906398, 7906422, 7906438-7906440, 7919804-7919812
278	ALOXE3	17	0.99953183520599	1	2136	8013244
279	HES7	17	0.98525073746313	10	678	8024989-8024997, 8025002
280	MYH8	17	0.99982800137599	1	5814	10316020
281	MYH3	17	0.99982826721621	1	5823	10534937
282	ELAC2	17	0.99556630390971	11	2481	12896188-12896197, 12903474
283	COX10	17	0.97522522522523	33	1332	13977640-13977665, 14095345-14095351
284	RAI1	17	0.99353259919594	37	5721	17696461, 17696482, 17697094-17697127, 17697131
285	MYO15A	17	0.99509109789484	52	10593	18024013-18024024, 18024033-18024041, 18024128, 18024148, 18024155, 18024283, 18024365-18024369, 18024405-18024411, 18024415-18024416, 18049333-18049338, 18057114, 18057134, 18057138-18057139, 18077173-18077175
286	UNC119	17	0.92669432918396	53	723	26879356-26879381, 26879435, 26879441-26879443, 26879447-26879459, 26879509-26879511, 26879521-26879522, 26879533-26879537
287	SLC6A4	17	0.99841521394612	3	1893	28543219, 28548904-28548905
288	NF1	17	0.98333333333333	142	8520	29422341, 29422344, 29422356, 29422359-29422365, 29422374-29422387, 29546114-29546120, 29553690, 29554250-29554284, 29556224, 29559091, 29586089-29586090, 29588748-29588792, 29654517-29654527, 29654545, 29663388, 29664863-29664867, 29664876-29664883
289	TCAP	17	0.99007936507937	5	504	37822041-37822042, 37822114-37822116
290	KRT10	17	0.91111111111111	156	1755	38975101, 38975118, 38975149, 38975205-38975253, 38975276-38975373, 38978763-38978768
291	KRT9	17	0.99786324786325	4	1872	39723886-39723889
292	KRT14	17	0.99577167019027	6	1419	39741304-39741309
293	KRT16	17	0.92194092827004	111	1422	39766240-39766281, 39768412-39768418, 39768490-39768496, 39768658-39768698, 39768740-39768753
294	KRT17	17	0.93379522709777	86	1299	39780378-39780420, 39780515-39780540, 39780555-39780571
295	FKBP10	17	0.9937106918239	11	1749	39969288-39969297, 39969300
296	STAT5B	17	0.98942470389171	25	2364	40369477, 40369480, 40371359-40371365, 40371368-40371371, 40371441-40371452
297	NAGLU	17	0.99731182795699	6	2232	40688343, 40688653-40688657
298	WNK4	17	0.9989281886388	4	3732	40932824, 40932829, 40932836-40932837
299	BRCA1	17	0.99893899204244	6	5655	41222990-41222993, 41245686-41245687
300	SOST	17	0.99688473520249	2	642	41832881-41832882
301	GRN	17	0.98653198653199	24	1782	42429553-42429563, 42429582-42429593, 42429722
302	ITGA2B	17	0.99871794871795	4	3120	42463003-42463006
303	PLEKHM1	17	0.99526963103122	15	3171	43522997-43523003, 43531203, 43535742-43535748
304	WNT3	17	0.97097378277154	31	1068	44851098-44851105, 44851129, 44851137, 44851189, 44851197, 44851200-44851215, 44851221-44851223
305	ITGB3	17	0.99493029150824	12	2367	45331237-45331248
306	COL1A1	17	0.99886234357224	5	4395	48265936-48265939, 48265948
307	NOG	17	0.99856938483548	1	699	54671845
308	RAD51C	17	0.9973474801061	3	1131	56770068, 56809886-56809887
309	TRIM37	17	0.99965457685665	1	2895	57168667
310	AP1S2	17	0.99358974358974	4	624	58180053, 58180061-58180062, 58180066
311	BRIP1	17	0.98026666666667	74	3750	59793370-59793373, 59857692, 59870982-59871019, 59871046-59871071, 59924504-59924505, 59934438, 59934451, 59934464
312	ACE	17	0.98928844682479	42	3921	61554480-61554517, 61566095, 61566098, 61574574, 61574607
313	POLG2	17	0.99931412894376	1	1458	62476459
314	AXIN2	17	0.99881516587678	3	2532	63554542-63554544
315	SOX9	17	0.99346405228758	10	1530	70119828, 70120065-70120066, 70120070, 70120075-70120080
316	COG1	17	0.98810737342847	35	2943	71189237, 71189258-71189263, 71189282-71189283, 71189286-71189287, 71189302, 71189315-71189317, 71189323, 71189339, 71189373, 71189423, 71196795-71196810
317	DNAI2	17	0.99449944994499	10	1818	72306195-72306204
318	TSEN54	17	0.99557242251739	7	1581	73512696, 73512986-73512991
319	ITGB4	17	0.99908575607972	5	5469	73732422, 73751784-73751787
320	UNC13D	17	0.997861289337	7	3273	73826659-73826661, 73835939-73835942
321	SEPT9	17	0.92277115275412	136	1761	75494605-75494740
322	GAA	17	0.99720181881777	8	2859	78082593-78082600
323	NDUFV2	18	0.99733333333333	2	750	9102756-9102757
324	MC2R	18	0.99217002237136	7	894	13884711-13884717
325	NPC1	18	0.9981756580662	7	3837	21124929, 21124945-21124946, 21124949, 21152093-21152095
326	LAMA3	18	0.99860027994401	14	10002	21269656-21269657, 21269660-21269665, 21269689-21269691, 21269696-21269698
327	DSC3	18	0.99479747305834	14	2691	28574308-28574309, 28581619-28581620, 28581660, 28581688-28581689, 28581695, 28622594-28622599
328	DSC2	18	0.99778270509978	6	2706	28659934-28659937, 28660125, 28669518
329	DSG2	18	0.99970211498362	1	3357	29078248
330	MYO5B	18	0.99296917252569	39	5547	47352912-47352950
331	SMAD4	18	0.9873417721519	21	1659	48593439, 48593510, 48593513, 48603058, 48603061, 48603069, 48603073-48603087
332	TCF4	18	0.99950396825397	1	2016	52946807
333	ATP8B1	18	0.99121405750799	33	3756	55315865-55315867, 55398940-55398969
334	RAX	18	0.99903938520653	1	1041	56936488
335	LMAN1	18	0.98434442270059	24	1533	57000360, 57000448-57000457, 57000465-57000476, 57016427
336	CCBE1	18	0.997542997543	3	1221	57134044, 57134049, 57134063
337	TNFRSF11A	18	0.98541329011345	27	1851	59992586-59992587, 59992595-59992598, 59992601-59992620, 60021663
338	ELANE	19	0.88557213930348	92	804	853262-853339, 853342, 853349-853357, 853382-853385
339	KISS1R	19	0.9047619047619	114	1197	918612-918614, 918618, 918631-918668, 920290-920296, 920303, 920313, 920320-920324, 920335-920337, 920354-920356, 920360-920365, 920373, 920376-920389, 920431, 920462-920468, 920607, 920642, 920660-920662, 920670, 920704-920709, 920728, 920733-920738, 920745-920748
340	MAP2K2	19	0.92352452202826	92	1203	4123781-4123872
341	TUBB4	19	0.98576779026217	19	1335	6495477-6495490, 6495589, 6495593, 6495601-6495602, 6495608
342	C3	19	0.99559294871795	22	4992	6707109-6707111, 6707116, 6707119, 6707159, 6707173-6707174, 6707237, 6707279-6707282, 6709720-6709728
343	INSR	19	0.99662569293806	14	4149	7184535-7184538, 7293860-7293864, 7293871, 7293876-7293877, 7293881-7293882
344	MCOLN1	19	0.99942627653471	1	1743	7598506
345	PNPLA6	19	0.99497991967871	20	3984	7614800-7614810, 7615930, 7616248-7616255
346	TYK2	19	0.99887766554433	4	3564	10463141, 10463752, 10464242, 10476356
347	DNM2	19	0.99846919249904	4	2613	10941666-10941668, 10941671
348	LDLR	19	0.99961285327139	1	2583	11200281
349	PRKCSH	19	0.99621928166352	6	1587	11558341-11558346
350	CACNA1A	19	0.98457651907991	116	7521	13318642-13318716, 13318782, 13318790-13318794, 13318797, 13318803-13318807, 13318810-13318813, 13318836, 13318839, 13318850-13318855, 13318862-13318864, 13319692-13319697, 13370412-13370418, 13616943
351	NOTCH3	19	0.98277347114556	120	6966	15272165, 15281318-15281364, 15311641-15311646, 15311651-15311716
352	JAK3	19	0.98548148148148	49	3375	17940932-17940966, 17940985-17940991, 17945491-17945496, 17945499
353	SLC5A5	19	0.99482401656315	10	1932	17984973-17984982
354	COMP	19	0.97317502198769	61	2274	18900754-18900813, 18901669
355	CEBPA	19	0.80779944289694	207	1077	33792517, 33792520, 33792570, 33792592-33792613, 33792754-33792757, 33792857-33792860, 33792866-33792874, 33792885-33792893, 33792896, 33792914, 33792925-33792927, 33792935, 33792939-33792940, 33792947, 33792951-33792952, 33792959, 33792973, 33792982-33792995, 33793004-33793041, 33793140-33793181, 33793195-33793200, 33793204, 33793211-33793233, 33793238, 33793243-33793245, 33793284-33793298
356	SCN1B	19	0.95043370508055	40	807	35521725-35521764
357	MAG	19	0.99893673577884	2	1881	35791056, 35791080
358	PRODH2	19	0.99813780260708	3	1611	36303306-36303308
359	NPHS1	19	0.99919484702093	3	3726	36337076-36337078
360	SDHAF1	19	0.98850574712644	4	348	36486178-36486180, 36486191
361	RYR1	19	0.98954819077859	158	15117	38976709-38976713, 38976770, 38976779, 38987506-38987508, 38998405, 38998415, 38998420-38998421, 39037104, 39037107, 39055673-39055681, 39055777-39055799, 39055802-39055803, 39055812-39055816, 39055822, 39055831, 39055837-39055847, 39055850-39055857, 39055869-39055893, 39055903-39055904, 39055907-39055911, 39055918, 39055944-39055982, 39056160-39056166, 39061282-39061283, 39078055
362	ACTN4	19	0.99744152046784	7	2736	39138427-39138428, 39138542, 39205121, 39214859-39214861
363	PRX	19	0.97628818969448	104	4386	40901307-40901332, 40909613-40909641, 40909652-40909691, 40909707-40909708, 40909711, 40909719, 40909733-40909734, 40909758-40909760
364	TGFB1	19	0.98806479113384	14	1173	41837052, 41837069-41837071, 41854291-41854295, 41854298, 41858919-41858921, 41858929
365	BCKDHA	19	0.99925261584454	1	1338	41930452
366	ATP1A3	19	0.99700924415443	11	3678	42470788, 42470794, 42470966-42470968, 42470986, 42471000, 42471353, 42471357, 42480569, 42480672
367	ETHE1	19	0.99869281045752	1	765	44012186
368	BCAM	19	0.97615262321145	45	1887	45312414-45312416, 45312419-45312424, 45312427, 45321861-45321867, 45324052-45324079
369	SIX5	19	0.9990990990991	2	2220	46271799, 46271878
370	DMPK	19	0.97301587301587	51	1890	46274275, 46285451, 46285458, 46285523-46285525, 46285529-46285534, 46285545-46285563, 46285566-46285568, 46285582-46285583, 46285587-46285589, 46285592-46285603
371	FKRP	19	0.9502688172043	74	1488	47259130-47259132, 47259150, 47259154-47259162, 47259165, 47259440, 47259497-47259504, 47259614-47259647, 47259671-47259682, 47259731-47259733, 47260081, 47260084
372	DBP	19	0.96932515337423	30	978	49138837, 49138840-49138845, 49138852, 49138859-49138861, 49138864-49138865, 49139113-49139116, 49139120, 49139124-49139126, 49139130-49139138
373	MED25	19	0.9982174688057	4	2244	50335413, 50339526, 50339529-50339530
374	MYH14	19	0.99885452462772	7	6111	50770232-50770234, 50770240-50770242, 50780122
375	KCNC3	19	0.75021987686895	568	2274	50823503-50823592, 50823596, 50826242-50826244, 50826263-50826269, 50826278-50826282, 50826310, 50826350-50826352, 50826357-50826358, 50826373, 50826405-50826413, 50826419, 50826422-50826428, 50826440-50826443, 50826450-50826461, 50826464, 50826468, 50826560-50826565, 50831484-50831486, 50831499-50831501, 50831507, 50831530-50831531, 50831548, 50831558-50831560, 50831567, 50831686-50831720, 50831798-50831842, 50831879-50831930, 50831944-50831982, 50831988, 50832015-50832042, 50832123, 50832141-50832339
376	PRKCG	19	0.97421203438395	54	2094	54392949, 54392954-54392957, 54392960, 54393140-54393141, 54393143-54393144, 54393167-54393170, 54393189-54393192, 54393214-54393221, 54393227-54393233, 54393242-54393253, 54410082-54410090
377	PRPF31	19	0.998	3	1500	54634799-54634801
378	NLRP7	19	0.99775208734746	7	3114	55451167-55451173
379	TNNT1	19	0.9936628643853	5	789	55658063-55658065, 55658068, 55658075
380	AURKC	19	0.96559139784946	32	930	57743124-57743155
381	KLF11	2	0.9766081871345	36	1539	10183850-10183885
382	MYCN	2	0.96272401433692	52	1395	16082544-16082577, 16082585-16082602
383	APOB	2	0.99868536371604	18	13692	21225311-21225312, 21227183-21227185, 21255244, 21255249, 21266755-21266756, 21266785-21266793
384	POMC	2	0.96641791044776	27	804	25384429-25384432, 25384441, 25384444-25384445, 25384454-25384473
385	HADHB	2	0.99789473684211	3	1425	26508294, 26508344, 26508372
386	OTOF	2	0.97564230897564	146	5994	26696890, 26697395-26697401, 26699759-26699887, 26699897-26699903, 26700129, 26705366
387	ALK	2	0.99568167797656	21	4863	29451754-29451767, 29451772, 29451781-29451784, 30143519, 30143522
388	SPAST	2	0.86601836844949	248	1851	32289020-32289025, 32289033-32289064, 32289079-32289257, 32289265-32289268, 32289307-32289312, 32340815, 32340822, 32340830-32340838, 32340852-32340854, 32340857, 32341201-32341204, 32341211, 32341215
389	CYP1B1	2	0.99448529411765	9	1632	38302289-38302297
390	SOS1	2	0.99675162418791	13	4002	39224394-39224398, 39224535, 39224538, 39224548, 39233646, 39241981-39241983, 39281926
391	ABCG5	2	0.99028629856851	19	1956	44058975-44058977, 44058988-44058996, 44065699-44065705
392	ABCG8	2	0.99950544015826	1	2022	44102368
393	LRPPRC	2	0.99545997610514	19	4185	44128492, 44161345, 44161352-44161355, 44201029, 44202332-44202343
394	SIX3	2	0.995995995996	4	999	45169435-45169438
395	MSH2	2	0.99857397504456	4	2805	47639613-47639614, 47639646-47639647
396	MSH6	2	0.98995836394808	41	4083	48010378-48010379, 48010458-48010466, 48010471-48010481, 48010487-48010488, 48010508, 48010512, 48010532-48010538, 48010541-48010545, 48010551, 48010558, 48032757
397	LHCGR	2	0.99857142857143	3	2100	48982785-48982787
398	FSHR	2	0.99952107279693	1	2088	49189935
399	NRXN1	2	0.99638418079096	16	4425	51255379-51255394
400	EFEMP1	2	0.95951417004049	60	1482	56102081-56102090, 56102094, 56102106-56102154
401	ATP6V1B1	2	0.99610894941634	6	1542	71163109, 71163128-71163131, 71163137
402	MCEE	2	0.98681732580038	7	531	71351597-71351603
403	SPR	2	0.99745547073791	2	786	73114784, 73114800
404	ALMS1	2	0.99864043506078	17	12504	73613032-73613046, 73659341, 73659344
405	DCTN1	2	0.99947875944748	2	3837	74590484, 74598106
406	HTRA2	2	0.99419026870007	8	1377	74757252, 74757392-74757393, 74757525-74757529
407	SUCLG1	2	0.99135446685879	9	1041	84668564-84668572
408	GGCX	2	0.99648660518226	8	2277	85782669-85782670, 85788522-85788524, 85788530-85788532
409	REEP1	2	0.94719471947195	32	606	86564602-86564633
410	EIF2AK3	2	0.99104744852283	30	3351	88887500-88887502, 88887565-88887578, 88887581, 88887584-88887586, 88926730-88926738
411	TMEM127	2	0.98047419804742	14	717	96931089-96931090, 96931108-96931119
412	ZAP70	2	0.9994623655914	1	1860	98355851
413	RANBP2	2	0.91317829457364	840	9675	109345588-109345589, 109347874-109347913, 109352102, 109352185-109352191, 109352632-109352638, 109356965-109356975, 109357110-109357137, 109363178-109363203, 109365377-109365383, 109365423-109365467, 109367751-109367781, 109367841-109367847, 109368082-109368110, 109369543-109369561, 109369896-109369914, 109369929-109369965, 109370345-109370363, 109370386-109370401, 109371396-109371402, 109371495-109371512, 109371632-109371662, 109374869-109374872, 109374901-109374918, 109382700-109382706, 109382748-109382754, 109382787-109382793, 109382889-109382895, 109382937-109382946, 109383052-109383058, 109383084-109383113, 109383142-109383148, 109383203-109383210, 109383268-109383274, 109383295-109383321, 109383354-109383360, 109383600-109383641, 109383672-109383721, 109383768-109383798, 109383822-109383828, 109383885-109383910, 109383992-109384013, 109384164-109384170, 109384505-109384511, 109384542-109384567, 109384609-109384652, 109384746-109384752, 109397725-109397735
414	NPHP1	2	0.98967551622419	21	2034	110917704, 110917713-110917723, 110917734-110917741, 110917744
415	MERTK	2	0.999	3	3000	112656314, 112656321, 112656372
416	GLI2	2	0.98571728628439	68	4761	121728118-121728121, 121728133, 121746098, 121746112, 121746115, 121746137, 121746141-121746147, 121746157-121746164, 121746202-121746207, 121746221-121746224, 121746233-121746257, 121746361-121746368, 121747072
417	BIN1	2	0.99775533108866	4	1782	127808407-127808410
418	PROC	2	0.99134199134199	12	1386	128180643, 128180649-128180656, 128180664, 128180690, 128180702
419	CFC1	2	0.96130952380952	26	672	131279079, 131280381, 131280387-131280390, 131280809-131280828
420	RAB3GAP1	2	0.98438560760353	46	2946	135848574-135848585, 135848627-135848659, 135891524
421	LCT	2	0.99930843706777	4	5784	136564740, 136575555-136575557
422	MCM6	2	0.99878345498783	3	2466	136620316-136620318
423	NEB	2	0.99259036747772	148	19974	152384099, 152421657, 152432671, 152432675-152432676, 152432680-152432682, 152432713-152432741, 152432750-152432822, 152432829-152432839, 152432868, 152482114-152482131, 152511842-152511849
424	SCN2A	2	0.98753738783649	75	6018	166210918-166210930, 166211063-166211069, 166223756, 166223783, 166234107-166234151, 166237624-166237627, 166237633, 166237650, 166237653, 166237658
425	SCN1A	2	0.99983324995831	1	5997	166866251
426	SCN9A	2	0.99730367374452	16	5934	167060906, 167060922, 167060925, 167083191, 167083196, 167083206-167083214, 167133702, 167151165
427	ABCB11	2	0.99873928391326	5	3966	169814522, 169836376-169836379
428	HOXD13	2	0.99418604651163	6	1032	176957825-176957828, 176957831-176957832
429	AGPS	2	0.96256954982296	74	1977	178285032-178285033, 178285045-178285046, 178285058-178285060, 178333146, 178333155-178333166, 178333246, 178346833-178346868, 178346894, 178346903, 178362479-178362493
430	TTN	2	0.99941145958024	59	100248	179392337-179392339, 179392360, 179394770-179394771, 179394775, 179434048, 179446754-179446755, 179458712-179458719, 179459114-179459121, 179510700-179510703, 179510717-179510721, 179523795-179523802, 179540708, 179540713-179540714, 179540719-179540720, 179571316-179571318, 179650756-179650760, 179665141-179665143
431	CERKL	2	0.99499687304565	8	1599	182423383-182423387, 182438553, 182438559, 182468806
432	NEUROD1	2	0.99906629318394	1	1071	182542831
433	COL3A1	2	0.99068393546921	41	4401	189850448-189850455, 189850459-189850460, 189850465-189850468, 189854165, 189855752-189855762, 189856941-189856946, 189867754, 189871663-189871665, 189871672-189871674, 189871701-189871702
434	COL5A2	2	0.99777777777778	10	4500	189909928-189909930, 189909944, 189909948, 189916913, 189928706-189928709
435	SLC40A1	2	0.99941724941725	1	1716	190426704
436	PMS1	2	0.9967845659164	9	2799	190718735, 190718794-190718796, 190718808, 190718992-190718995
437	MSTN	2	0.98049645390071	22	1128	190925083-190925104
438	STAT1	2	0.99866844207723	3	2253	191859796, 191859819, 191859940
439	HSPD1	2	0.99883855981417	2	1722	198353177-198353178
440	ALS2	2	0.99919581825493	4	4974	202593791, 202626387-202626389
441	BMPR2	2	0.99615014436959	12	3117	203384824, 203384828-203384829, 203384834-203384842
442	FASTKD2	2	0.99531176746367	10	2133	207652760-207652767, 207652772, 207652775
443	ABCA12	2	0.99743194658449	20	7788	215797420, 215809728-215809731, 215809750, 215809792, 215854136-215854137, 215854146-215854148, 215854156, 215854172-215854177, 215901702
444	SMARCAL1	2	0.99650959860384	10	2865	217285089-217285098
445	PNKD	2	0.9853195164076	17	1158	219135292-219135305, 219204596-219204598
446	CYP27A1	2	0.99812030075188	3	1596	219646964-219646966
447	DES	2	0.99363057324841	9	1413	220283612, 220283710-220283711, 220283736, 220285374-220285378
448	OBSL1	2	0.98084695132666	109	5691	220435626, 220435647-220435651, 220435672-220435689, 220435732-220435806, 220435898-220435900, 220435909-220435911, 220435920, 220435923-220435925
449	COL4A4	2	0.99901263823065	5	5064	227942705-227942707, 227973982, 227984625
450	COL4A3	2	0.98743267504488	63	5013	228115885, 228162532-228162536, 228163411-228163423, 228163441-228163483, 228163502
451	SLC19A3	2	0.99932930918846	1	1491	228563983
452	SP110	2	0.99253034547152	16	2142	231081509-231081524
453	CHRND	2	0.99420849420849	9	1554	233390927, 233390930-233390935, 233390965, 233390968
454	CHRNG	2	0.9993564993565	1	1554	233405404
455	UGT1A1	2	0.9956304619226	7	1602	234668950-234668954, 234668958-234668959
456	COL6A3	2	0.9992657856094	7	9534	238296522-238296528
457	D2HGDH	2	0.99233716475096	12	1566	242707299, 242707317, 242707322-242707330, 242707373
458	AVP	20	0.8989898989899	50	495	3063320-3063333, 3063339-3063341, 3063375, 3063388, 3063411, 3063623-3063628, 3063638-3063647, 3063652-3063657, 3063726, 3063758-3063760, 3063763, 3063768-3063769, 3063775
459	PANK2	20	0.99416228838295	10	1713	3870137, 3870244-3870248, 3870255, 3870267, 3870272, 3870276
460	MKKS	20	0.99824868651489	3	1713	10386053-10386055
461	JAG1	20	0.99945310363686	2	3657	10620275, 10654173
462	C20orf7	20	0.98362235067437	17	1038	13782190-13782193, 13782196-13782204, 13782211, 13782216-13782218
463	SNTA1	20	0.97496706192358	38	1518	32031179, 32031202, 32031206, 32031212, 32031369-32031399, 32031409, 32031412-32031413
464	GDF5	20	0.98804780876494	18	1506	34025110-34025116, 34025119-34025129
465	DPM1	20	0.97445721583653	20	783	49551681-49551682, 49551699-49551700, 49551710-49551717, 49557460, 49562274-49562280
466	COL9A3	20	0.99318734793187	14	2055	61448443-61448448, 61456357-61456361, 61456364, 61456372-61456373
467	CHRNA4	20	0.9984076433121	3	1884	61992495, 61992499, 61992503
468	KCNQ2	20	0.99847269950363	4	2619	62073779, 62103707, 62103721, 62103730
469	SOX18	20	0.68571428571429	363	1155	62680096-62680097, 62680253-62680255, 62680512-62680869
470	SOD1	21	0.99139784946237	4	465	33039685-33039688
471	IFNGR2	21	0.93293885601578	68	1014	34775850-34775860, 34775866-34775922
472	RUNX1	21	0.99237699237699	11	1443	36164451-36164454, 36164600, 36164609-36164611, 36259284-36259286
473	CLDN14	21	0.96111111111111	28	720	37833812-37833839
474	HLCS	21	0.99908298945438	2	2181	38309515-38309516
475	AIRE	21	0.995115995116	8	1638	45712927, 45712977, 45713016-45713020, 45713058
476	ITGB2	21	0.97402597402597	60	2310	46308636-46308643, 46308651-46308682, 46308689-46308692, 46308695-46308699, 46308702-46308704, 46308720-46308727
477	COL18A1	21	0.99430199430199	30	5265	46876562, 46888489, 46923944, 46924411-46924437
478	COL6A1	21	0.98283122772919	53	3087	47401780-47401818, 47410174-47410175, 47410184, 47410309-47410315, 47410329-47410332
479	COL6A2	21	0.98823529411765	36	3060	47552002-47552037
480	FTCD	21	0.99446494464945	9	1626	47565741, 47565754-47565755, 47565762, 47565765-47565768, 47565796
481	PCNT	21	0.98981120767156	102	10011	47744151-47744152, 47754446-47754466, 47754495-47754544, 47754560-47754579, 47754611-47754617, 47831467, 47858095
482	PEX26	22	0.99782135076253	2	918	18561232-18561233
483	PRODH	22	0.99556295063783	8	1803	18908918, 18908932-18908936, 18923745, 18923749
484	GP1BB	22	0.97262479871176	17	621	19711713-19711717, 19711722-19711728, 19711734, 19711741, 19711746, 19711780, 19711837
485	TBX1	22	0.81922043010753	269	1488	19748428-19748602, 19748661, 19748664, 19753459-19753506, 19753513-19753525, 19753921-19753923, 19753945, 19753948-19753956, 19753961, 19753964-19753974, 19754047-19754048, 19754058-19754061
486	HPS4	22	0.99952651515152	1	2112	26866719
487	CHEK2	22	0.89437819420784	186	1761	29083906-29083917, 29083931-29083965, 29085135-29085171, 29090086-29090092, 29091139-29091160, 29091173-29091203, 29091737-29091743, 29091837-29091844, 29126428-29126429, 29126434-29126442, 29126445-29126448, 29130676-29130687
488	TCN2	22	0.99766355140187	3	1284	31019053-31019055
489	TRIOBP	22	0.98196675119752	128	7098	38119856-38119862, 38119879-38119921, 38120038-38120068, 38120394-38120440
490	SOX10	22	0.98144182726624	26	1401	38369933-38369950, 38369960-38369967
491	EP300	22	0.99779158040028	16	7245	41546051-41546054, 41546107-41546108, 41546127-41546130, 41574177, 41574194-41574197, 41574201
492	TNFRSF13C	22	0.90810810810811	51	555	42322124, 42322248-42322253, 42322256-42322260, 42322271-42322278, 42322295, 42322298-42322320, 42322323-42322329
493	CYB5R3	22	0.99337748344371	6	906	43045316-43045321
494	ALG12	22	0.99659168370825	5	1467	50297991, 50307386-50307389
495	MLC1	22	0.99470899470899	6	1134	50502583, 50502593-50502595, 50502601, 50502610
496	TYMP	22	0.93581780538302	93	1449	50964260, 50964284-50964313, 50964463-50964523, 50964845
497	ARSA	22	0.99146981627297	13	1524	51063657, 51063716, 51063724, 51063731, 51063748, 51063809, 51063820, 51063825-51063827, 51063846, 51063873, 51063890
498	SHANK3	22	0.83657513348589	857	5244	51113070-51113132, 51135957-51136143, 51158726-51159043, 51159058-51159066, 51159070, 51159073-51159074, 51159098-51159107, 51159112-51159120, 51159144-51159149, 51159152, 51159157-51159177, 51159188-51159195, 51159236, 51169204-51169210, 51169215, 51169218, 51169262-51169278, 51169437-51169442, 51169446, 51169472, 51169491-51169593, 51169603-51169609, 51169612-51169644, 51169662-51169675, 51169679-51169686, 51169714-51169735
499	SUMF1	3	0.99733333333333	3	1125	4458817-4458818, 4458893
500	FANCD2	3	0.98867753623188	50	4416	10088296-10088311, 10088340-10088346, 10091150-10091156, 10107165-10107171, 10114937-10114949
501	RAF1	3	0.99640472521828	7	1947	12660113-12660119
502	XPC	3	0.99964576691463	1	2823	14214470
503	COLQ	3	0.99853801169591	2	1368	15563113, 15563119
504	BTD	3	0.98713235294118	21	1632	15686585-15686605
505	GLB1	3	0.9960668633235	8	2034	33138504-33138507, 33138512-33138515
506	CRTAP	3	0.98341625207297	20	1206	33155586-33155604, 33155914
507	MLH1	3	0.99779832672831	5	2271	37067200, 37067312, 37090487-37090489
508	SCN5A	3	0.99796230259806	12	5889	38645426-38645429, 38645433-38645440
509	TMIE	3	0.99363057324841	3	471	46751074-46751076
510	TREX1	3	0.9972972972973	3	1110	48508078-48508079, 48508082
511	COL7A1	3	0.99909451046972	8	8835	48627123, 48627130-48627131, 48627134-48627138
512	RFT1	3	0.95756457564576	69	1626	53156425-53156432, 53156455-53156463, 53156515-53156533, 53156543-53156575
513	HESX1	3	0.9336917562724	37	558	57232246-57232272, 57232304, 57232515-57232520, 57233944-57233946
514	FLNB	3	0.99743885260597	20	7809	57994463, 58062886-58062889, 58089784-58089798
515	ATXN7	3	0.88548273431994	325	2838	63898275-63898599
516	MITF	3	0.99936020473448	1	1563	69928419
517	ROBO2	3	0.9997582789461	1	4137	77530370
518	GBE1	3	0.94357515410147	119	2109	81754595-81754598, 81754601-81754602, 81754613-81754637, 81754640-81754663, 81754669, 81754686-81754691, 81754701-81754757
519	PROS1	3	0.97932053175775	42	2031	93595910, 93595917, 93595920, 93595953-93595954, 93595959, 93595962-93595973, 93595984-93595996, 93595999-93596000, 93596004-93596009, 93596018-93596020
520	ARL13B	3	0.98912198912199	14	1287	93762068, 93762078, 93768266, 93768270, 93768289-93768292, 93768360-93768365
521	ARL6	3	0.92335115864528	43	561	97503799-97503839, 97503877, 97503890
522	CPOX	3	0.9985347985348	2	1365	98307585, 98312245
523	HGD	3	0.99701046337818	4	1338	120389293, 120389299, 120389316-120389317
524	IQCB1	3	0.99387868670006	11	1797	121516054-121516061, 121547759-121547760, 121547807
525	CASR	3	0.99413036762434	19	3237	122003526-122003544
526	ACAD9	3	0.9994640943194	1	1866	128628992
527	GP9	3	0.9250936329588	40	534	128781016-128781019, 128781024-128781059
528	NPHP3	3	0.95617330328074	175	3993	132409402, 132409405, 132411601-132411603, 132424655, 132438549-132438674, 132441051, 132441054, 132441058, 132441061-132441064, 132441071-132441098, 132441105-132441111, 132441173
529	PCCB	3	0.99938271604938	1	1620	136002733
530	FOXL2	3	0.97789566755084	25	1131	138664661, 138664753-138664756, 138664802, 138664805, 138664820, 138664869-138664873, 138664891-138664900, 138665028, 138665045
531	PLOD2	3	0.9433465085639	129	2277	145791102, 145802975-145802978, 145802988-145802990, 145804575-145804583, 145804602-145804651, 145804672-145804695, 145822086-145822095, 145828119-145828146
532	HPS3	3	0.99635157545605	11	3015	148880627-148880637
533	GFM1	3	0.99778368794326	5	2256	158380448-158380450, 158380454, 158399868
534	IFT80	3	0.99226804123711	18	2328	159997137-159997138, 159997143-159997146, 160018694-160018695, 160018711-160018714, 160075316, 160075328, 160083831-160083834
535	PDCD10	3	0.981220657277	12	639	167405022, 167405039, 167405046-167405055
536	SLC2A2	3	0.99809523809524	3	1575	170716887-170716889
537	SOX2	3	0.99475890985325	5	954	181430189, 181430231, 181430234, 181431064, 181431091
538	MCCC1	3	0.99494949494949	11	2178	182756850-182756857, 182759380-182759382
539	CLDN16	3	0.99891067538126	1	918	190106128
540	OPA1	3	0.98359580052493	50	3048	193354984-193355004, 193355038-193355063, 193355069-193355070, 193363343
541	PDE6B	4	0.99571150097466	11	2565	652743-652746, 652757-652761, 652764-652765
542	IDUA	4	0.95616717635066	86	1962	980971, 980977-980979, 980985, 981649, 996258, 996262-996265, 996597-996649, 996942, 997137, 997143-997149, 997156-997166, 997174-997175
543	FGFR3	4	0.99423156159868	14	2427	1801030-1801036, 1803355, 1806650-1806651, 1806656-1806657, 1806665, 1808649
544	SH3BP2	4	0.99461497038234	10	1857	2819995, 2820018, 2820031, 2820037, 2820050, 2820064, 2835480-2835483
545	HTT	4	0.98568246897868	135	9429	3076600-3076603, 3076604-3076699, 3076778-3076785, 3076801, 3129073-3129078, 3215749-3215754, 3234897-3234909, 3240627
546	DOK7	4	0.96039603960396	60	1515	3465135-3465139, 3465233-3465239, 3465246-3465278, 3494855-3494864, 3494869-3494873
547	DOK7	4	0.9746192893401	15	591	3494855-3494864, 3494869-3494873
548	EVC2	4	0.99974535268653	1	3927	5578130
549	EVC	4	0.98623699227929	41	2979	5713111-5713130, 5713159, 5713218-5713223, 5713242-5713251, 5806563-5806566
550	SLC2A9	4	0.99876771410967	2	1623	9982294-9982295
551	CC2D2A	4	0.99958873123586	2	4863	15569056, 15569059
552	PROM1	4	0.99884526558891	3	2598	16040596, 16040604, 16040607
553	CNGA1	4	0.96622807017544	77	2280	47954600-47954640, 47954687-47954693, 47972940, 47972950, 47972975-47972983, 47973005, 47973067-47973082, 47973110
554	SGCB	4	0.95402298850575	44	957	52895874-52895909, 52895943-52895949, 52904405
555	KIT	4	0.99965881951552	1	2931	55599323
556	SLC4A4	4	0.9869101978691	43	3285	72352665-72352667, 72352696-72352735
557	ALB	4	0.99781420765027	4	1830	74272404-74272407
558	CDS1	4	0.98124098124098	26	1386	85560077-85560091, 85569772-85569782
559	PKD2	4	0.98727210182319	37	2907	88928941-88928946, 88928949-88928953, 88928968, 88928970, 88928998-88929007, 88929010-88929011, 88929014-88929019, 88929077, 88973202, 88983117-88983120
560	SNCA	4	0.90307328605201	41	423	90743502-90743505, 90749300-90749315, 90749318-90749331, 90749333, 90756701-90756702, 90756705-90756708
561	MTTP	4	0.99925512104283	2	2685	100521828, 100529947
562	MANBA	4	0.98901515151515	29	2640	103592448-103592451, 103611799-103611816, 103611819, 103611823, 103611826-103611830
563	CISD2	4	0.92647058823529	30	408	103808512-103808522, 103808569-103808587
564	CFI	4	0.98458904109589	27	1752	110723073-110723077, 110723087-110723107, 110723116
565	GAR1	4	0.9954128440367	3	654	110745185-110745187
566	ANK2	4	0.99924204143507	9	11874	114161642-114161643, 114161650, 114161653-114161657, 114161695
567	BBS7	4	0.94972067039106	108	2148	122749817, 122754488-122754494, 122756411, 122756415, 122765151-122765152, 122766660-122766665, 122766674-122766675, 122766700-122766701, 122766704-122766705, 122766716, 122766818, 122770013, 122775860-122775861, 122775872-122775899, 122775912, 122775938-122775956, 122775966-122775972, 122782735, 122782744-122782756, 122782759-122782763, 122782814-122782817, 122782820
568	MFSD8	4	0.99421965317919	9	1557	128851896, 128851955-128851956, 128859954-128859955, 128859968-128859971
569	NR3C2	4	0.99560067681895	13	2955	149075980-149075985, 149075993-149075999
570	FGB	4	0.99932249322493	1	1476	155484266
571	FGA	4	0.99615532487505	10	2601	155507674-155507680, 155507950-155507952
572	LRAT	4	0.98845598845599	8	693	155670242-155670249
573	CTSO	4	0.95859213250518	40	966	156863568-156863607
574	GLRB	4	0.96117804551539	58	1494	158041708, 158041716-158041723, 158041729-158041730, 158041734-158041739, 158041753-158041757, 158041761-158041770, 158043539-158043544, 158060000, 158091619-158091636, 158091878
575	ETFDH	4	0.99838187702265	3	1854	159616651, 159618711-159618712
576	GK	4	0.95246690734055	79	1662	166199162-166199168, 166199237, 166199358-166199364, 166199423-166199432, 166199558-166199569, 166199584-166199610, 166200063, 166200447-166200453, 166200741-166200747
577	SDHA	5	0.95137844611529	97	1995	218486-218518, 223682-223683, 224475, 228319-228325, 236650-236682, 236693-236699, 256469-256475, 256511-256517
578	TERT	5	0.97705207413945	78	3399	1293646, 1294682, 1294686-1294687, 1294690-1294696, 1294700, 1294704, 1294712-1294713, 1294719-1294724, 1294914-1294935, 1295060-1295061, 1295072-1295104
579	SDHA	5	0.99388379204893	2	327	1593246, 1593266
580	DNAH5	5	0.9901981981982	136	13875	13727653-13727664, 13766105-13766106, 13788998-13789001, 13792165, 13810319, 13862721-13862747, 13901477, 13916457-13916530, 13916559-13916563, 13919307-13919315
581	FAM134B	5	0.97121820615797	43	1494	16616835-16616874, 16616887, 16616896, 16616899
582	AMACR	5	0.99912967798085	1	1149	34007928
583	NIPBL	5	0.96339869281046	308	8415	36962235, 36962238-36962239, 36995756, 36995796, 36995884-36995892, 37014854-37014855, 37024704-37024705, 37024803-37024810, 37036481-37036589, 37044491-37044535, 37048604-37048692, 37048720-37048733, 37048753-37048777
584	LIFR	5	0.99028536733455	32	3294	38482706, 38482720-38482741, 38482751, 38482763-38482766, 38482768-38482769, 38490330, 38506007
585	OXCT1	5	0.94625719769674	84	1563	41862744-41862777, 41862786-41862835
586	GHR	5	0.99947835159103	1	1917	42718969
587	ITGA2	5	0.99520586576424	17	3546	52344545-52344558, 52347337, 52351849, 52374619
588	NDUFS4	5	0.99810606060606	1	528	52899289
589	ERCC8	5	0.98908480268682	13	1191	60199519-60199523, 60199532-60199534, 60199543, 60200654-60200655, 60200665, 60217902
590	NDUFAF2	5	0.9	51	510	60394826, 60394838, 60394844-60394845, 60448584-60448591, 60448604-60448642
591	SMN2	5	0.96271186440678	33	885	69359242-69359247, 69361860-69361883, 69362949, 69366567, 69372353
592	SMN2	5	0.9638418079096	32	885	70234666-70234671, 70237284-70237307, 70238373, 70241992
593	AP3B1	5	0.96712328767123	108	3285	77311234-77311261, 77311284-77311290, 77311372, 77411950-77411953, 77411963, 77411968-77411974, 77412053-77412056, 77461490, 77536759-77536760, 77563344-77563357, 77563381-77563419
594	VCAN	5	0.99960749681091	4	10191	82834323-82834326
595	RASA1	5	0.94083969465649	186	3144	86628324-86628333, 86637107-86637112, 86637120-86637124, 86642524-86642529, 86669980-86670137, 86674336
596	MEF2C	5	0.98945147679325	15	1422	88024370-88024375, 88024382-88024383, 88024386, 88024391, 88024397-88024400, 88044906
597	GPR98	5	0.99487342106654	97	18921	89914956, 89914971-89914974, 89914984-89914985, 89924414, 89925092, 89925153, 89941812-89941836, 89941847-89941850, 89949267, 89971941, 89979674-89979676, 89979681-89979684, 89979687-89979690, 89985700-89985703, 89989954-89989960, 90016012, 90020734, 90020798, 90086739, 90098616, 90144490, 90144521-90144527, 90144531-90144533, 90144548-90144550, 90144554, 90144559-90144561, 90144578-90144583, 90144606, 90459675-90459678
598	WDR36	5	0.98109243697479	54	2856	110436308, 110436312, 110436317-110436324, 110436335-110436341, 110436344-110436345, 110436369-110436400, 110441773, 110459812-110459813
599	APC	5	0.99753867791842	21	8532	112102951-112102967, 112128173, 112128179, 112128184, 112128187
600	HSD17B4	5	0.98552691090005	32	2211	118809604, 118809607, 118814559, 118824902, 118835079, 118835107-118835109, 118835137, 118835181-118835203
601	ALDH7A1	5	0.99382716049383	10	1620	125894937, 125904038-125904041, 125904044-125904048
602	LMNB1	5	0.99488926746167	9	1761	126113464, 126113468, 126113475, 126113478-126113481, 126113484, 126141317
603	FBN2	5	0.99702483121639	26	8739	127645000, 127645078, 127702070-127702085, 127702100-127702105, 127702118-127702119
604	MYOT	5	0.96927187708751	46	1497	137221794-137221817, 137221851, 137221865-137221870, 137221879-137221883, 137221892-137221897, 137222642, 137222685, 137222940, 137222973
605	MATR3	5	0.99764150943396	6	2544	138658506-138658507, 138658537-138658539, 138658594
606	DIAPH1	5	0.98586017282011	54	3819	140953309, 140953387-140953388, 140953393-140953394, 140953397, 140953400-140953403, 140953406-140953410, 140953469, 140953487-140953488, 140953524-140953535, 140953548-140953550, 140953564-140953575, 140953660-140953661, 140953766-140953771, 140953774
607	PPP2R2B	5	0.96171171171171	51	1332	146077647-146077677, 146077688-146077707
608	SPINK5	5	0.99878234398782	4	3285	147470779-147470782
609	ADRB2	5	0.9951690821256	6	1242	148207626-148207629, 148207632-148207633
610	TCOF1	5	0.99954086317723	2	4356	149755645-149755646
611	GABRG2	5	0.99741602067183	4	1548	161522514-161522517
612	MSX2	5	0.95273631840796	38	804	174151804-174151806, 174151851-174151885
613	GRM6	5	0.98139711465452	49	2634	178421661-178421681, 178421856, 178421908, 178421911-178421918, 178421928-178421945
614	SQSTM1	5	0.99546485260771	6	1323	179248006, 179248046-179248047, 179248056-179248058
615	FLT4	5	0.99853372434018	6	4092	180076527-180076532
616	FOXC1	6	0.92358604091456	127	1662	1610757-1610759, 1610766-1610768, 1610772-1610773, 1610859-1610863, 1610869-1610870, 1610873-1610875, 1611191-1611194, 1611410, 1611551, 1611643-1611651, 1611658-1611664, 1611689, 1611705, 1611721-1611722, 1611795-1611825, 1611918, 1611942, 1612014-1612060, 1612142-1612144
617	TUBB2B	6	0.97159940209268	38	1338	3225207, 3225211, 3225391-3225419, 3225602-3225608
618	DSP	6	0.99907149489322	8	8616	7575592-7575599
619	DTNBP1	6	0.99810606060606	2	1056	15663086-15663087
620	ATXN1	6	0.97589869281046	59	2448	16327433, 16327861-16327867, 16327870, 16327873, 16327876, 16327879, 16327882, 16327887-16327906, 16327909, 16327912, 16327915-16327928, 16327931, 16327944-16327952
621	ALDH5A1	6	0.99939283545841	1	1647	24515404
622	HLA-H	6	0.884	87	750	29855845-29855869, 29856311-29856314, 29856318, 29856330, 29856347, 29856353, 29856368, 29856402, 29856424, 29856427, 29856516, 29856531-29856536, 29856546, 29856550, 29856583-29856614, 29856679, 29856686, 29856693, 29856711, 29856718-29856722
623	TNXB	6	0.94608605495075	104	1929	31976896-31976929, 31977376-31977394, 31977835-31977841, 31978498-31978518, 31978782-31978789, 31979461, 31979521-31979527, 31980130-31980136
624	CYP21A2	6	0.99865591397849	2	1488	32006337, 32007849
625	TNXB	6	0.99206536255794	101	12729	32009631-32009664, 32010111-32010129, 32010569-32010575, 32011235, 32011248, 32011641-32011647, 32012313-32012315, 32012378, 32012965-32012990, 32036483-32036484
626	HLA-DQA1	6	0.76822916666667	178	768	32605271, 32605294-32605300, 32609097, 32609105-32609106, 32609144-32609150, 32609169, 32609173, 32609181, 32609192, 32609212-32609233, 32609236-32609241, 32609277-32609279, 32609297-32609299, 32609786-32609788, 32609801, 32609806, 32609812-32609813, 32609873, 32609949-32609977, 32610008-32610009, 32610387-32610406, 32610433-32610469, 32610475-32610498, 32610534-32610535
627	HLA-DQB1	6	0.51145038167939	384	786	32629124-32629173, 32629193-32629194, 32629199, 32629223-32629234, 32629780-32629802, 32629811-32629812, 32629819-32629834, 32629840-32629847, 32629955, 32632575-32632799, 32632815-32632844, 32634299-32634302, 32634305-32634306, 32634313, 32634316-32634318, 32634331, 32634341, 32634350, 32634373
628	COL11A2	6	0.99692957205911	16	5211	33140129-33140130, 33140134-33140135, 33140142-33140148, 33140350, 33140354, 33140368-33140370
629	SYNGAP1	6	0.93377976190476	267	4032	33388042-33388108, 33393587, 33393607, 33393620-33393631, 33393633, 33393643, 33393652-33393659, 33393673, 33411314, 33411350-33411353, 33411470, 33411482, 33411488-33411521, 33411541-33411662, 33411669, 33411671-33411677, 33411684, 33411689-33411691
630	FANCE	6	0.99441340782123	9	1611	35420556-35420564
631	MOCS1	6	0.99424385138671	11	1911	39874701-39874707, 39881079-39881082
632	PEX6	6	0.99898063200815	3	2943	42946468, 42946487, 42946657
633	CUL7	6	0.99980380616049	1	5097	43011360
634	RUNX2	6	0.97765006385696	35	1566	45390355, 45390415-45390426, 45390440, 45390443-45390444, 45390450-45390455, 45390466, 45390469, 45390477, 45390480-45390489
635	MUT	6	0.95517088326676	101	2253	49409553-49409571, 49409594-49409632, 49409660, 49409664-49409665, 49409676, 49419327-49419347, 49421343-49421345, 49421433-49421438, 49421444-49421449, 49421462-49421463, 49423850
636	PKHD1	6	0.99885480572597	14	12225	51720735-51720745, 51768440, 51909804-51909805
637	EYS	6	0.98166401695813	173	9435	64940565-64940572, 64940575-64940577, 65098706, 65098709, 65098716-65098722, 65523297-65523348, 65523362, 65523375-65523411, 65596639-65596642, 65596652-65596658, 65596689, 66005817, 66005877-66005879, 66005888, 66005915, 66063481-66063486, 66063501-66063502, 66094288-66094323, 66204709
638	LMBRD1	6	0.95933456561922	66	1623	70410720-70410743, 70462151-70462159, 70462170-70462186, 70462233-70462248
639	COL9A1	6	0.99457700650759	15	2766	70964212, 70966508-70966513, 70981368, 71004002-71004008
640	RIMS1	6	0.99409332545777	30	5079	72678748, 72889287, 72892080, 72892355-72892358, 72892361, 72945347-72945354, 72960133-72960136, 72974698, 72974710, 72974716, 73108711, 73108776-73108777, 73108793-73108796
641	MYO6	6	0.99896319336444	4	3858	76599854-76599857
642	LCA5	6	0.99426934097421	12	2094	80196732-80196738, 80196781, 80196832-80196834, 80196843
643	BCKDHB	6	0.93638676844784	75	1179	80881019-80881029, 80881039-80881089, 81053447-81053459
644	SLC35A1	6	0.9861932938856	14	1014	88182726-88182730, 88218138-88218146
645	RARS2	6	0.99884858952216	2	1737	88228595, 88231233
646	NDUFAF4	6	0.92045454545455	42	528	97338980-97339002, 97339048-97339051, 97339054-97339060, 97339084-97339091
647	PDSS2	6	0.99583333333333	5	1200	107780274, 107780279-107780282
648	SEC63	6	0.99737187910644	6	2283	108204330-108204334, 108204337
649	OSTM1	6	0.99900497512438	1	1005	108375791
650	FIG4	6	0.99779735682819	6	2724	110053840-110053841, 110081478-110081481
651	WISP3	6	0.99463806970509	6	1119	112389581-112389586
652	RSPH4A	6	0.99395629939563	13	2151	116937922-116937934
653	LAMA2	6	0.99871835950016	12	9363	129380939, 129475752, 129513952-129513960, 129573275
654	ARG1	6	0.99793601651187	2	969	131903801-131903802
655	ENPP1	6	0.98956083513319	29	2778	132129211-132129213, 132129224, 132171184, 132171187-132171190, 132203487, 132203499, 132203554-132203569, 132203578-132203579
656	EYA4	6	0.99375	12	1920	133767863, 133769285-133769287, 133769296-133769301, 133777758, 133783580
657	AHI1	6	0.99303815093289	25	3591	135732503-135732514, 135759513-135759515, 135759553-135759556, 135759561-135759565, 135763851
658	PEX7	6	0.96399176954733	35	972	137167218-137167220, 137167226-137167237, 137167247-137167256, 137167270-137167272, 137167283-137167288, 137167295
659	PEX3	6	0.99554367201426	5	1122	143792100, 143792106, 143792124, 143792214, 143792532
660	STX11	6	0.99652777777778	3	864	144507999-144508001
661	EPM2A	6	0.99899598393574	1	996	146056576
662	IYD	6	0.99885057471264	1	870	150719241
663	SYNE1	6	0.99746154429037	67	26394	152542679, 152545777, 152545791-152545793, 152555012-152555025, 152590293-152590296, 152630966, 152630982, 152630987, 152642402-152642404, 152642922-152642929, 152679646, 152680519, 152685992-152686002, 152716679-152716682, 152716688-152716689, 152737829-152737835, 152819883-152819885, 152819891
664	PARK2	6	0.97496423462089	35	1398	161969939, 161969945-161969948, 161969951-161969957, 161969966-161969988
665	TBP	6	0.95882352941176	42	1020	170871038-170871040, 170871043, 170871046, 170871049, 170871052, 170871055-170871087, 170871095, 170871167
666	LFNG	7	0.79912280701754	229	1140	2559496-2559594, 2559602-2559635, 2559642-2559650, 2559658-2559671, 2559698-2559700, 2559703, 2559706-2559708, 2559722, 2559731-2559733, 2559736-2559744, 2559764-2559791, 2559808-2559813, 2559816-2559817, 2559823-2559834, 2559842, 2559845-2559847, 2559878
667	PMS2	7	0.98493626882966	39	2589	6043609-6043616, 6045523-6045529, 6045577-6045600
668	TWIST1	7	0.68308702791461	193	609	19156608-19156616, 19156635-19156645, 19156650-19156654, 19156777-19156944
669	DNAH11	7	0.98953728264073	142	13572	21630536-21630588, 21630598-21630604, 21630634, 21630913-21630914, 21630928-21630946, 21630953-21630958, 21840844-21840851, 21882311, 21882314, 21893939-21893979, 21894007, 21894072-21894073
670	FAM126A	7	0.98914431673052	17	1566	22985208-22985216, 23000854-23000855, 23000895-23000896, 23015829-23015832
671	KLHL7	7	0.99943214082907	1	1761	23164709
672	HOXA13	7	0.73007712082262	315	1167	27239078-27239103, 27239259-27239269, 27239286-27239562, 27239574
673	GARS	7	0.9963963963964	8	2220	30634702-30634708, 30640717
674	GHRHR	7	0.99921383647799	1	1272	31008459
675	BBS9	7	0.98460960960961	41	2664	33303908, 33303917-33303923, 33303927-33303943, 33303962, 33303966-33303971, 33303974, 33303981-33303986, 33313516, 33384246
676	GLI3	7	0.99789162977019	10	4743	42005042, 42005683-42005684, 42005687, 42005691-42005694, 42005852, 42005855
677	GCK	7	0.99500356887937	7	1401	44187323-44187329
678	CCM2	7	0.97752808988764	30	1335	45039933-45039962
679	GUSB	7	0.99539877300613	9	1956	65441103-65441111
680	KCTD7	7	0.95172413793103	42	870	66094091, 66094145-66094185
681	SBDS	7	0.9933598937583	5	753	66460277-66460281
682	NCF1	7	0.91636363636364	69	825	72639957-72639989, 72640033-72640039, 72643704-72643710, 72644230-72644236, 72645924-72645930, 72648743-72648750
683	ELN	7	0.99310344827586	15	2175	73442527-73442531, 73442540, 73442551, 73466266-73466273
684	NCF1	7	0.9846547314578	18	1173	74191613-74191614, 74193642, 74193668, 74197911-74197917, 74202423-74202429
685	HGF	7	0.99542752629172	10	2187	81340817-81340818, 81340827-81340834
686	ABCB4	7	0.99973958333333	1	3840	87031485
687	AKAP9	7	0.99564994882293	51	11724	91609626-91609631, 91609634-91609636, 91624036-91624039, 91624045-91624048, 91625048-91625054, 91671485-91671491, 91674483, 91682065, 91712776, 91714820, 91714901-91714902, 91714911, 91715607, 91727480-91727482, 91727485, 91732092, 91736708-91736714
688	KRIT1	7	0.97919493441881	46	2211	91843925-91843926, 91843931-91843933, 91852166-91852176, 91867048, 91867054-91867060, 91867068, 91871429-91871449
689	PEX1	7	0.99740394600208	10	3852	92116855, 92122389, 92122410-92122415, 92140299, 92140312
690	COL1A2	7	0.99341623994148	27	4101	94030908-94030925, 94049703-94049708, 94049920, 94058698, 94058723
691	SLC25A13	7	0.99852289512555	3	2031	95751304-95751306
692	SLC26A5	7	0.99955257270694	1	2235	103017292
693	RELN	7	0.99961453213838	4	10377	103244835, 103417053, 103629802-103629803
694	SLC26A4	7	0.9820742637644	42	2343	107323647-107323675, 107323979, 107340592-107340603
695	SLC26A3	7	0.99346405228758	15	2295	107432275-107432289
696	IFRD1	7	0.93289085545723	91	1356	112101969-112101971, 112102120-112102160, 112102178-112102224
697	CFTR	7	0.94485707855053	245	4443	117182079-117182080, 117188713-117188753, 117188760-117188800, 117188838-117188877, 117234992-117235112
698	AASS	7	0.99316792520676	19	2781	121769447-121769449, 121769503-121769509, 121769519-121769524, 121769531, 121769537, 121769552
699	IMPDH1	7	0.99	18	1800	128035065-128035072, 128045860, 128049881, 128049888, 128049892, 128049908-128049913
700	FLNC	7	0.99951088285644	4	8178	128470902, 128470912-128470913, 128470935
701	ATP6V0A4	7	0.97820055489497	55	2523	138394373-138394393, 138394402, 138394411, 138394416-138394420, 138394433-138394443, 138394452-138394456, 138394476-138394484, 138394530-138394531
702	BRAF	7	0.9813124728379	43	2301	140434422, 140453127-140453162, 140507800-140507803, 140508739, 140624408
703	PRSS1	7	0.89650537634409	77	744	142459625-142459629, 142460310-142460342, 142460366-142460397, 142460798-142460804
704	CNTNAP2	7	0.99774774774775	9	3996	145813983-145813988, 145813997, 147914481-147914482
705	KCNH2	7	0.95258620689655	165	3480	150644694-150644736, 150644747-150644769, 150655186, 150671861, 150671864-150671870, 150671876, 150671879-150671888, 150671894, 150671930, 150671933-150671935, 150671941-150671942, 150671951-150671986, 150674966-150675001
706	PRKAG2	7	0.99766081871345	4	1710	151272003-151272006
707	SHH	7	0.97696184305256	32	1389	155595753-155595754, 155595760-155595761, 155595769-155595794, 155595802, 155595829
708	MNX1	7	0.78441127694859	260	1206	156798249-156798256, 156799280-156799295, 156802458, 156802463, 156802472, 156802522-156802530, 156802536-156802542, 156802645-156802763, 156802777-156802789, 156802796-156802813, 156802841-156802860, 156802879-156802888, 156802892, 156802896-156802927, 156802932-156802935
709	GATA4	8	0.99924755455229	1	1329	11566403
710	TUSC3	8	0.9665711556829	35	1047	15480596, 15480600-15480601, 15480629-15480634, 15480639-15480644, 15480650-15480653, 15517044-15517055, 15588231, 15588234-15588236
711	ASAH1	8	0.99915824915825	1	1188	17928888
712	THAP1	8	0.98598130841122	9	642	42693201-42693209
713	HGSNAT	8	0.99895178197065	2	1908	42995694-42995695
714	RP1	8	0.99969092875908	2	6471	55540988, 55540991
715	CHD7	8	0.99844340671559	14	8994	61732642, 61734382, 61734477-61734479, 61734599, 61749423, 61749513, 61777856-61777861
716	TTPA	8	0.99044205495818	8	837	63973970-63973972, 63978473-63978476, 63998490
717	CYP7B1	8	0.99934253780408	1	1521	65527698
718	EYA1	8	0.99775154581225	4	1779	72211317, 72211436, 72211451, 72246390
719	CA2	8	0.99872286079183	1	783	86386022
720	CNGB3	8	0.99958847736626	1	2430	87656897
721	NBN	8	0.99867549668874	3	2265	90960102-90960104
722	DECR1	8	0.99900793650794	1	1008	91033157
723	TMEM67	8	0.97991967871486	60	2988	94768007, 94768065, 94768070-94768076, 94777667, 94777670-94777671, 94777677-94777682, 94777692, 94777698-94777703, 94777817-94777821, 94777832-94777836, 94777841-94777852, 94777857-94777859, 94777868-94777874, 94811900, 94827551, 94827587
724	GDF6	8	0.98318713450292	23	1368	97157165-97157167, 97157412, 97157446, 97157621-97157628, 97172902-97172911
725	VPS13B	8	0.99266299816575	88	11994	100050735, 100123406-100123464, 100146871, 100146878, 100160136-100160138, 100160144, 100287455, 100513939, 100514022, 100514034, 100844789, 100844792, 100883859-100883874
726	GRHL2	8	0.99787007454739	4	1878	102631827-102631830
727	RRM2B	8	0.99905303030303	1	1056	103225117
728	TRPS1	8	0.9997425997426	1	3885	116599479
729	KIAA0196	8	0.99626436781609	13	3480	126073381-126073393
730	KCNQ3	8	0.97556319205804	64	2619	133492497, 133492502, 133492556-133492557, 133492591-133492596, 133492638, 133492646, 133492687-133492708, 133492749-133492778
731	TG	8	0.99771277236066	19	8307	133882071, 134024190-134024207
732	NDRG1	8	0.99915611814346	1	1185	134274319
733	CYP11B1	8	0.89814814814815	154	1512	143956453-143956459, 143956541-143956565, 143957128-143957154, 143957195-143957210, 143957230-143957249, 143958288-143958294, 143958513-143958533, 143958572-143958602
734	CYP11B2	8	0.94312169312169	86	1512	143993962-143993994, 143994026-143994032, 143994266, 143994702, 143994724, 143996536-143996556, 143998608-143998629
735	PLEC	8	0.9891853432942	152	14055	144990406, 144990460-144990462, 144990467-144990468, 144990478-144990483, 144990492, 144993725, 144993965, 144995034, 144995044, 144995051, 144995056, 144995066-144995067, 144995705, 144995807, 144996220, 144996224-144996233, 144996235, 144996255-144996261, 144996270, 144996281, 144996721-144996722, 144997891, 144998882, 144998901, 144998910-144998918, 144998927-144998928, 144998957, 144998972-144998974, 144998977, 144999225, 144999234-144999239, 144999656-144999660, 144999760-144999773, 145000003-145000018, 145000021-145000025, 145001740, 145003340, 145003400, 145004354, 145005721, 145006151-145006155, 145006182-145006200, 145007029, 145008240-145008243, 145009085-145009086, 145024477-145024480
736	GPT	8	0.99463447350771	8	1491	145730790, 145731281-145731282, 145731285, 145731492, 145731512, 145732031-145732032
737	RECQL4	8	0.99944858009374	2	3627	145738764, 145738809
738	DOCK8	9	0.99777777777778	14	6300	214999, 452053-452065
739	VLDLR	9	0.98588863463005	37	2622	2622228-2622264
740	KCNV2	9	0.98778998778999	20	1638	2717983-2717984, 2717993, 2718340-2718346, 2718730-2718735, 2718764-2718767
741	GLIS3	9	0.99892588614393	3	2793	4118018, 4118072, 4118105
742	JAK2	9	0.97263901147396	93	3399	5066759, 5077453-5077532, 5077569-5077580
743	TYRP1	9	0.99752168525403	4	1614	12694160-12694163
744	CDKN2A	9	0.99787685774947	1	471	21974777
745	NPR2	9	0.99936386768448	2	3144	35792543, 35792687
746	TMC1	9	0.99956197985107	1	2283	75369722
747	VPS13A	9	0.96472440944882	336	9525	79820312-79820324, 79824412, 79840864-79840898, 79841470-79841505, 79842374, 79842384-79842385, 79843056, 79843097, 79843146-79843151, 79843164, 79853195, 79891134-79891136, 79896783-79896829, 79897130, 79897133-79897134, 79897145-79897146, 79910613-79910615, 79928924-79928928, 79928932, 79928961, 79929021-79929025, 79931110, 79931163-79931166, 79931169, 79931177-79931183, 79931199, 79931203-79931206, 79932522-79932614, 79933151-79933152, 79933163-79933167, 79933170-79933174, 79933177-79933186, 79933192, 79934521, 79938107, 79952239, 79952243, 79952264, 79952291-79952293, 79952303-79952306, 79959097-79959099, 79959104-79959105, 79959141, 79959148-79959149, 79974254-79974255, 79996960-79996967, 79996970-79996973
748	ROR2	9	0.99964689265537	1	2832	94486022
749	SPTLC1	9	0.99789029535865	3	1422	94843189-94843191
750	PTCH1	9	0.9933241252302	29	4344	98212159-98212166, 98231118-98231121, 98231377-98231392, 98270643
751	HSD17B3	9	0.9957127545552	4	933	99064323-99064326
752	FOXE1	9	0.9795008912656	23	1122	100616309-100616310, 100616326-100616327, 100616330-100616332, 100616698, 100616701-100616710, 100616719-100616722, 100617128
753	TGFBR1	9	0.98082010582011	29	1512	101867493-101867498, 101867503-101867504, 101867538-101867556, 101867561, 101900171
754	ABCA1	9	0.99970527556734	2	6786	107574867-107574868
755	IKBKAP	9	0.99974993748437	1	3999	111656322
756	MUSK	9	0.9992337164751	2	2610	113547851-113547852
757	ALAD	9	0.98992950654582	10	993	116152772-116152773, 116153203-116153210
758	DFNB31	9	0.9985315712188	4	2724	117266692, 117266934, 117266996, 117267001
759	NR5A1	9	0.9963924963925	5	1386	127245161-127245163, 127245166-127245167
760	LMX1B	9	0.98838248436104	13	1119	129456062-129456064, 129458202-129458206, 129458209-129458213
761	STXBP1	9	0.99944812362031	1	1812	130415999
762	TOR1A	9	0.99499499499499	5	999	132586324, 132586327-132586330
763	SETX	9	0.99987552900174	1	8034	135139892
764	TSC1	9	0.99799713876967	7	3495	135785967-135785973
765	CEL	9	0.83531483927785	374	2271	135937388-135937399, 135944521-135944534, 135944582-135944589, 135945985-135946018, 135946621-135946624, 135946633-135946636, 135946675-135946972
766	SURF1	9	0.96899224806202	28	903	136218813, 136223163-136223164, 136223278-136223291, 136223300, 136223314-136223320, 136223324, 136223328-136223329
767	ADAMTS13	9	0.98529411764706	63	4284	136293762-136293774, 136293796-136293802, 136293806-136293807, 136293818-136293845, 136295164, 136303443-136303445, 136307856-136307861, 136308654, 136308657, 136310145
768	COL5A1	9	0.99891245241979	6	5517	137534085, 137534099-137534101, 137534104, 137534109
769	LHX3	9	0.96526054590571	42	1209	139089309-139089311, 139090799-139090805, 139090809, 139090849-139090852, 139090885, 139090890-139090905, 139094857-139094866
770	INPP5E	9	0.98501291989664	29	1935	139326276-139326280, 139333156-139333157, 139333160, 139333308-139333311, 139333317-139333321, 139333332-139333339, 139333344-139333347
771	NOTCH1	9	0.99465310380803	41	7668	139391255, 139391326, 139391549-139391554, 139391560-139391564, 139391574-139391579, 139391816, 139391879, 139391947, 139391967, 139391988-139391989, 139392002-139392010, 139395123-139395126, 139407499, 139440192-139440193
772	AGPAT2	9	0.93309438470729	56	837	139581665, 139581748-139581802
773	SLC34A3	9	0.95333333333333	84	1800	140127830-140127832, 140127837, 140128315-140128385, 140128576, 140128626, 140128634, 140128644, 140128688-140128691, 140130757
774	EHMT1	9	0.99384141647421	24	3897	140605430-140605435, 140605444-140605453, 140605468-140605472, 140705913-140705915
775	SHOX	X	0.98634812286689	12	879	591741-591752
776	CSF2RA	X	0.9992337164751	1	1305	1422241
777	FANCB	X	0.99767441860465	6	2580	14877371-14877376
778	ARX	X	0.97276494967436	46	1689	25031285-25031286, 25031301-25031305, 25031480, 25031642-25031659, 25031664-25031673, 25031676, 25031682, 25031777-25031784
779	NR0B1	X	0.99716914366596	4	1413	30326615-30326617, 30326620
780	DMD	X	0.99882438053898	13	11058	31697659, 32398634-32398638, 32398765-32398769, 32472859-32472860
781	RPGR	X	0.94680543509685	184	3459	38145338-38145385, 38145502-38145630, 38145655-38145660, 38145704
782	NYX	X	0.99792531120332	3	1446	41333050-41333052
783	MAOA	X	0.98800505050505	19	1584	43571963-43571981
784	WAS	X	0.99536116633532	7	1509	48547221-48547227
785	AR	X	0.98081795150199	53	2763	66765159-66765201, 66766373, 66766381-66766389
786	MED12	X	0.99250076522804	49	6534	70338615-70338647, 70352034-70352036, 70360645-70360648, 70360661-70360662, 70361098-70361100, 70361110-70361113
787	TAF1	X	0.97712073213657	130	5682	70586167-70586277, 70586287-70586291, 70586302-70586303, 70586313-70586324
788	ATP7A	X	0.99977792582723	1	4503	77298857
789	BRWD3	X	0.9935293030135	35	5409	79991570-79991573, 80064940-80064970
790	ZIC3	X	0.997150997151	4	1404	136651125, 136651161-136651163
791	SOX3	X	0.99925428784489	1	1341	139586500
792	SLC6A8	X	0.9517819706499	92	1908	152954051, 152954064-152954065, 152954110-152954114, 152954122-152954146, 152954162-152954211, 152954232-152954240
793	ABCD1	X	0.98972296693476	23	2238	153008675-153008678, 153009137-153009155
794	MECP2	X	0.9873079492318	19	1497	153295947, 153363087-153363104
795	OPN1MW	X	0.99908675799087	1	1095	153496198
796	USP9Y	Y	0.99843505477308	12	7668	14848436-14848437, 14898656-14898662, 14958323-14958325

Effect rank	Variant	Phase/ Zygosity	Allele freq	Impact	Evaluation	Summary / Info
5	BRCA1-Q356R	het unknown	0.023	Dominant pathogenic	Moderate clinical importance, likely	This variant was associated with an increased susceptibility to breast cancer. Johnson et al. found strongest significance for a dominant hypothesis. We estimate a woman carrying this variant to have an attributable increased lifetime risk of breast cancer of ~6% (~18% total, assuming 12% average lifetime risk).
5	BRCA1-L246V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
5	POLG-Q1236H	homozygous	0.031	Complex/Other pathogenic	Low clinical importance, uncertain	Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.
3	LOXL1-R141L	homozygous		Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.998 (probably damaging)
3	CASP10-V410I	het unknown	0.031	Dominant protective	Low clinical importance, likely	Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).
3	CASP10-L522I	homozygous	0.309	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5	RANBP2-E580K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2.5	RANBP2-C581Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2.5	RANBP2-T585M	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.732 (possibly damaging), Testable gene in GeneTests
2.5	RANBP2-T2492A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
2.5	KRT5-G138E	het unknown	0.031	Unknown pathogenic	Low clinical importance, likely	This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).
2	NEFL-S472Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
2	CCR5-R60S	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.064 (benign)
2	CHIT1-A442G	het unknown	0.092	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
2	CHIT1-G102S	homozygous	0.268	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests
2	TGIF1-P83Shift	homozygous	0.139	Complex/Other pathogenic	Low clinical importance, uncertain	Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.
2	TGIF1-P292S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2	TGIF1-P292L	het unknown	0.073	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2	ITGAM-R77H	het unknown	0.095	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.048 (benign)
2	ITGAM-A859V	het unknown	0.136	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
2	ITGAM-P1147S	het unknown	0.141	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
2	BLMH-I443V	homozygous	0.241	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1.5	NPC1-I858V	homozygous	0.480	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1.5	NPC1-H215R	homozygous	0.222	Complex/Other protective	Low clinical importance, likely	This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).
1.5	LPL-S474*	het unknown	0.096	Unknown protective	Low clinical importance, uncertain	This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.
1.5	KCNJ11-V337I	homozygous	0.761	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5	KCNJ11-K23E	homozygous	0.711	Unknown protective	Low clinical importance, likely	This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.
1.5	CYP2C9-R144C	het unknown	0.027	Unknown pharmacogenetic	Moderate clinical importance, well-established	This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.
1.25	PRODH-R521Q	homozygous	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1.25	PRODH-R431H	het unknown	0.035	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests
1.25	PRODH-W185R	homozygous	0.826	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1.25	RNASEL-D541E	homozygous	0.470	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1.25	RNASEL-R462Q	het unknown	0.208	Complex/Other pathogenic	Low clinical importance, uncertain	Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.
1.25	SP110-M523T	homozygous	0.319	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25	SP110-L425S	het unknown	0.875	Unknown pathogenic	Low clinical importance, uncertain	This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
1.25	SP110-G299R	het unknown	0.822	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25	SP110-W112R	het unknown	0.945	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ENO3-N71S	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	ENO3-V85A	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	CYBA-V174A	het unknown	0.417	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	CYBA-Y72H	homozygous	0.649	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	PTPN22-W620R	homozygous	0.970	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	PTPN22-N514T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	AKAP10-I646V	het unknown	0.434	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	AKAP10-R249H	het unknown	0.427	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ELAC2-S217L	het unknown	0.209	Complex/Other pathogenic	Low clinical importance, uncertain	Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).
1	PIK3R6-L609Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AIM1-C491R	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.091 (benign)
1	AIM1-E1196A	homozygous	0.935	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.015 (benign)
1	AIM1-C1395Y	het unknown	0.243	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.958 (probably damaging)
1	ZNF167-N494Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HLA-DQA1-L8M	homozygous	0.457	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-F41S	homozygous	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-A68V	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-G84F	homozygous	0.122	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-R87T	homozygous	0.170	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-M89I	homozygous	0.200	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HLA-DQA1-Y103S	homozygous	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TNXB-W458C	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TNXB-R48P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HSH2D-S223Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	C19orf55-G398Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	INSR-A2G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	NR_015394-G45W	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NR_015394-F74S	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NR_015394-T113Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AP1S2-R29P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	CUL7-Q813R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ALG6-S306F	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CD226-S307G	homozygous	0.423	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	CCDC66-D5Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CCDC66-Q383R	homozygous	0.934	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CCDC66-R460Q	homozygous	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
1	ZNF598-M637T	het unknown	0.601	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 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	ZFPM1-R22G	homozygous	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZFPM1-E444Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZFPM1-L446Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SH2B3-W262R	homozygous	0.768	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	CYP1B1-V432L	homozygous	0.547	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CYP1B1-A119S	het unknown	0.080	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CYP1B1-R48G	het unknown	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-L1285I	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-Q534R	homozygous	0.991	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	MTHFD1-K134R	homozygous	0.846	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	MTHFD1-R653Q	homozygous	0.320	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign)
1	PTCHD3-*768Q	homozygous	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PTCHD3-I584M	homozygous	0.963	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PTCHD3-M521T	homozygous	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PTCHD3-D473G	homozygous	0.499	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging)
1	PTCHD3-C407G	homozygous	0.490	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (probably damaging)
1	PTCHD3-S309Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KRT4-Q230R	het unknown	0.301	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	KRT4-G160GAGGFGAGFGTGGFG	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	KRT4-A146V	het unknown	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	B3GNT6-L316Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	B3GNT6-L335Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	USH2A-M3868V	het unknown	0.131	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	USH2A-I2169T	homozygous	0.575	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	USH2A-I2106T	homozygous	0.629	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	USH2A-T2086N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	USH2A-I1665T	homozygous	0.052	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1	USH2A-D644V	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
1	USH2A-A125T	het unknown	0.777	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TIRAP-S180L	het unknown	0.073	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	VDR-M1T	homozygous	0.687	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1	HADHB-T2TT	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	HADHB-P429S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	TSHR-P52T	homozygous	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	TSHR-E727D	homozygous	0.895	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	THBS1-N700S	homozygous	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
1	NR_027242-A221S	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NR_027242-Q97Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027242-L22P	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	DLL3-F172C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	DLL3-L218P	homozygous	0.650	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	DLL3-R387L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TSC2-R1706C	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.942 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	GSPT1-G92C	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
1	KCP-H313Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KCP-A16Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NPRL3-L489Shift	homozygous	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KCNH2-K897T	het unknown	0.098	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1	PLEKHA2-P389Shift	homozygous	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	TTN-A19840P	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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	homozygous	0.146	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-E190Shift	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
1	FRZB-R200W	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.999 (probably damaging)
1	ATG9B-A765Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ATG9B-N493S	het unknown	0.079	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CHRNA5-D398N	het unknown	0.158	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign)
1	SEBOX-L207S	homozygous	0.913	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	SEBOX-W10Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ADH1B-H48R	homozygous	0.678	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	AX746903-T82Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	IL7R-I66T	homozygous	0.597	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	IL7R-V138I	homozygous	0.689	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	IL7R-I356V	homozygous	0.214	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	VSIG10L-Q860Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	VSIG10L-R592Q	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-M356I	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-N3T	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-A832G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-DV772EL	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-E764Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCARF2-P747Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCARF2-A745Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCARF2-P174S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	IL13-Q144R	homozygous	0.766	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	BANK1-R61H	het unknown	0.221	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	BANK1-C650R	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	PADI6-V343Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
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-K316R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF880-S319T	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	ZNF543-P55A	homozygous	0.445	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.342 (possibly damaging)
1	ZNF543-Q107R	homozygous	0.677	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF543-L246H	homozygous	0.675	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF543-G559R	homozygous	0.044	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.987 (probably damaging)
1	PCSK1-S690T	het unknown	0.218	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1	PCSK1-Q665E	het unknown	0.238	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	PCSK1-N221D	het unknown	0.020	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
1	GPR98-L1093F	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	GPR98-V1951I	homozygous	0.820	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	GPR98-P1987L	homozygous	0.333	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1	GPR98-A2106V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	GPR98-Y2232C	homozygous	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	GPR98-N2345S	homozygous	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	GPR98-N2584S	homozygous	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	GPR98-E3471K	homozygous	0.834	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	GPR98-E3867K	homozygous	0.356	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	GPR98-E5344G	homozygous	0.903	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1	GPR98-V5427M	homozygous	0.918	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	GPR98-V5876I	het unknown	0.424	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	VCAN-K349E	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	VCAN-G428D	het unknown	0.215	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
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	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	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF761-G528S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF761-E603Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	LDLRAP1-S202P	homozygous	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
1	LDLRAP1-R238W	het unknown	0.016	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
1	TCEAL6-Q175Shift	homozygous	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KCNE1L-P33S	homozygous	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.979 (probably damaging)
1	BCOR-P305Del	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ADD1-G460W	het unknown	0.232	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.995 (probably damaging)
1	ADD1-S617C	het unknown	0.334	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	FAM58A-Q15Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
1	FAM58A-G4Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
1	IDUA-R105Q	homozygous	0.147	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
1	IDUA-A361T	homozygous	0.204	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	IDUA-V454I	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1	AVPR2-G12E	homozygous	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1	RAB40A-H45L	homozygous	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.907 (probably damaging)
1	DGKK-L1014Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	BC112980-K147Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	EBP-R171C	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	ITIH5L-W1041S	homozygous	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
1	ATP7A-V767L	homozygous	0.332	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	PRNP-M129V	het unknown	0.258	Complex/Other protective	Low clinical importance, well-established	This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.
0.75	ABCC6-R1268Q	het unknown	0.142	Unknown pharmacogenetic	Low clinical importance, uncertain	This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.
0.75	ABCC6-M848V	homozygous	0.954	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	ABCC6-H632Q	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	ABCC6-V614A	het unknown	0.354	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625	BRCA2-N372H	het unknown	0.230	Recessive pathogenic	Low clinical importance, uncertain	This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.
0.625	BRCA2-V2466A	homozygous	0.954	Dominant benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625	RYR2-G1886S	het unknown	0.115	Recessive pathogenic	High clinical importance, uncertain	Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1885E, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.
0.625	RYR2-Q2958R	homozygous	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625	MTRR-I49M	het unknown	0.313	Recessive pathogenic	Low clinical importance, likely	This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
0.625	MTRR-S202L	het unknown	0.285	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDK5RAP2-V1540L	het unknown	0.714	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDK5RAP2-E289Q	homozygous	0.801	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SETX-I1386V	homozygous	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SETX-G1252R	homozygous	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SETX-D1192E	homozygous	0.598	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-V783A	het unknown	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-H752Q	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-M613T	het unknown	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-R364H	homozygous	0.968	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FKBP15-P993T	het unknown	0.029	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.976 (probably damaging)
0.5	FKBP15-E946EE	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	FKBP15-A847S	het unknown	0.113	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.306 (possibly damaging)
0.5	SLC26A2-I574T	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	IKBKAP-I816L	het unknown	0.316	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	IKBKAP-G765E	het unknown	0.315	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	IKBKAP-R525Q	het unknown	0.088	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DYSF-A614V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DYSF-G1492S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DYSF-D1915N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCEE-R104L	homozygous	0.194	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	NEBL-K60N	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
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-Q732K	het unknown	0.789	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.99 (probably damaging)
0.5	SLC9A10-T705I	het unknown	0.790	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.005 (benign)
0.5	CUBN-E3002G	het unknown	0.088	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-I2984V	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-A2914V	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-L2879I	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-S2717W	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-C2162Y	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-L2153F	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-P1559S	homozygous	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-P389T	het unknown	0.513	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CUBN-F253S	homozygous	0.801	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	FAM166A-P84L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	HSPA1L-T493M	homozygous	0.868	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.5	RETNLB-L14Shift	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ROR2-V819I	homozygous	0.798	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DENND4C-I5L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.956 (probably damaging)
0.5	CNGB3-I307V	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CNGB3-C234W	homozygous	0.939	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BST1-R125H	het unknown	0.049	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (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	GGH-A31T	het unknown	0.198	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	GGH-C6R	het unknown	0.088	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	EIF2B5-I587V	homozygous	0.370	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ABCB11-V444A	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FER1L6-D1110E	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FER1L6-R1720Q	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	TRMT12-W28R	het unknown	0.615	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TRMT12-D195Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	TRMT12-D195E	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.015 (benign)
0.5	DOCK8-P97T	homozygous	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5	CLDN16-R55Shift	homozygous	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift, Testable gene in GeneTests
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	AK094577-C82Shift	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NEB-I6534V	het unknown	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-A6277P	homozygous	0.691	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-R4389T	homozygous	0.724	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-W3348C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-K2613N	het unknown	0.138	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-V1491M	homozygous	0.453	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-Y1301H	homozygous	0.668	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NEB-K1027N	homozygous	0.476	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ZC3H3-S881Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ZC3H3-P857S	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.994 (probably damaging)
0.5	ZC3H3-S452G	homozygous	0.754	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZC3H3-S399G	homozygous	0.375	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZC3H3-A228S	homozygous	0.140	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.068 (benign)
0.5	ZC3H3-E151D	homozygous	0.406	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	WFS1-V333I	homozygous	0.889	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WFS1-R611H	het unknown	0.442	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	KIAA1949-G339R	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	XDH-I703V	het unknown	0.082	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests
0.5	XDH-I646V	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	FGFR3-P451S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BAG3-C151R	het unknown	0.065	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FGFR4-P136L	het unknown	0.768	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FGFR4-G388R	het unknown	0.301	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.481 (possibly damaging)
0.5	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	COL17A1-D1370G	het unknown	0.257	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-M703V	homozygous	0.672	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-G428S	homozygous	0.771	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-T210M	homozygous	0.557	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GRK5-Q41L	het unknown	0.096	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.016 (benign)
0.5	OR2T3-Y109H	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	GRM6-A807V	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5	GRM6-Q59P	het unknown	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	USH1C-E819D	homozygous	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SPTY2D1-K617R	het unknown	0.194	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.597 (possibly damaging)
0.5	SPTY2D1-R447Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.932 (probably damaging)
0.5	ABCC8-A1369S	homozygous	0.755	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PROP1-A142T	het unknown	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PROP1-N20S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MTR-D919G	het unknown	0.262	Complex/Other protective	Low clinical importance, uncertain	This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption.
0.5	EDARADD-M9I	homozygous	0.726	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	POLN-Q121H	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	TPO-A373S	homozygous	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	TPO-S398T	homozygous	0.684	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5	TPO-V847A	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	CHAT-L243F	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	CHAT-V461M	homozygous	0.927	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALK-I1461V	homozygous	0.982	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NHLRC1-P111L	homozygous	0.250	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	HTT-Y2309H	het unknown	0.459	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HTT-V2786I	het unknown	0.193	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ZFP57-D368V	het unknown	0.087	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ERCC6-G446D	het unknown	0.014	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
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	CDH23-G488A	homozygous	0.180	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-N1349D	het unknown	0.772	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-A1572T	het unknown	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-V1672I	het unknown	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-R1801Q	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-T1996S	het unknown	0.248	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-E2041K	het unknown	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-R2355Q	het unknown	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-P2377L	het unknown	0.338	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BC040901-C89W	het unknown	0.706	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BC040901-P93S	het unknown	0.548	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BC040901-A106Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CYP2C8-K399R	het unknown	0.061	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.5	CYP2C8-R139K	het unknown	0.078	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.015 (benign)
0.5	APOB-A4481T	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	APOB-S4338N	het unknown	0.725	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	APOB-P2739L	het unknown	0.346	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	APOB-I2313V	het unknown	0.964	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	APOB-Y1422C	homozygous	0.994	Unknown benign	Low clinical importance, uncertain	This position is almost certainly an error in the HG18 reference sequence.
0.5	APOB-A618V	het unknown	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYOF-D342N	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	ANXA11-R230C	het unknown	0.382	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	TUBB2B-C201S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.379 (possibly damaging), Testable gene in GeneTests
0.5	FLT4-R1146H	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLT4-H890Q	het unknown	0.355	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	FLT4-N149D	het unknown	0.023	Unknown benign	Low clinical importance, likely	Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect.
0.5	BCHE-A567T	homozygous	0.138	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	BCHE-E283D	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SPATA18-S227P	het unknown	0.311	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.27 (possibly damaging)
0.5	SPATA18-R267H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SPATA18-K292R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.877 (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	ZXDC-P562L	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	WDR41-R441H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	WDR41-V329I	het unknown	0.533	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AP3B1-V585E	homozygous	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MUT-I671V	homozygous	0.522	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MUT-R532H	het unknown	0.238	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-G43R	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-L141P	homozygous	0.760	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-E162G	homozygous	0.764	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-E269K	het unknown	0.096	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-D326Y	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T1038A	het unknown	0.747	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-I1334T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-N2641S	het unknown	0.367	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-A3474T	het unknown	0.501	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-V3715L	het unknown	0.452	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-M4172V	homozygous	0.334	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T4177I	homozygous	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-S1400P	homozygous	0.504	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-V1327M	homozygous	0.464	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-P1004L	homozygous	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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	IQCF1-R114Q	het unknown	0.020	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	EPDR1-A36Shift	het unknown	0.012	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CCNO-I219Shift	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CCNO-CG205FC	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	OBSL1-R1767Q	homozygous	0.491	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-Q1578R	homozygous	0.968	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-E1365D	homozygous	0.723	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OBSL1-R723K	homozygous	0.770	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BDP1-D38E	homozygous	0.755	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BDP1-K722E	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	BDP1-R757C	het unknown	0.314	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BDP1-V778M	het unknown	0.400	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.009 (benign)
0.5	BDP1-G1180S	het unknown	0.419	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BDP1-F1244I	het unknown	0.402	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BDP1-I1264M	homozygous	0.794	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BDP1-V1347M	homozygous	0.808	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BDP1-K1469E	het unknown	0.379	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.038 (benign)
0.5	BDP1-I2013L	homozygous	0.824	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BDP1-N2555S	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.009 (benign)
0.5	GHRHR-M422T	het unknown	0.028	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SRA1-V110RL	homozygous	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	RSPH4A-T149S	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5	RSPH4A-L589P	het unknown	0.707	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LAMA2-R619H	het unknown	0.300	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LAMA2-G1584S	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	LAMA2-A2585V	het unknown	0.594	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SACM1L-A337Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SACM1L-F338Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SACM1L-Y434F	homozygous	0.531	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.011 (benign)
0.5	SEC63-T676I	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests
0.5	LCA5-G656D	het unknown	0.377	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LCA5-D26A	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	LCA5-L24S	homozygous	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	UMPS-G213A	het unknown	0.170	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC22A4-I306T	het unknown	0.588	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	SLC22A4-L503F	het unknown	0.142	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	SLC41A3-L501Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SLC41A3-T62A	homozygous	0.982	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ATG16L1-T300A	homozygous	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	PKHD1-Q4048R	het unknown	0.566	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-Q3899R	het unknown	0.546	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-L1870V	homozygous	0.905	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-A1262V	homozygous	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-R760C	homozygous	0.318	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MLH1-I219V	homozygous	0.124	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-G8323A	het unknown	0.310	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-F7302V	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-L5015M	homozygous	0.866	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-S4596T	homozygous	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-K4121R	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-E4060D	homozygous	0.539	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5	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-L1419S	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-L852P	het unknown	0.655	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	EYS-E641V	het unknown	0.112	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	VTA1-L283Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	HIVEP2-L1538P	homozygous	0.972	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HIVEP2-Y1242C	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	ABCA12-S777T	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BLVRA-A3T	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BLVRA-Q56R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	COL3A1-A698T	homozygous	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL3A1-H1353Q	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CFI-T300A	homozygous	0.957	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ADRB2-G16R	het unknown	0.477	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	ADRB2-E27Q	het unknown	0.773	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	SLC39A7-G124R	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.961 (probably damaging)
0.5	FNIP2-S551R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	BBS12-R386Q	het unknown	0.515	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5	BBS12-D467N	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDK5-Y285D	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
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	SFTPC-T138N	homozygous	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SFTPC-S186N	homozygous	0.222	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BMP3-Y67N	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.987 (probably damaging)
0.5	BMP3-L205F	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.17 (benign)
0.5	TNXB-R2597Q	het unknown	0.157	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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-G2495S	het unknown	0.153	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-V2127M	het unknown	0.141	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-E1905K	het unknown	0.061	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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-S921A	het unknown	0.173	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-R650H	het unknown	0.078	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-R511H	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-T302A	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-V203M	het unknown	0.078	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NAT2-I114T	het unknown	0.220	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	NAT2-R197Q	het unknown	0.272	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	NAT2-R268K	het unknown	0.675	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HLA-DQB1-D167G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQB1-G157A	homozygous	0.539	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-R171S	homozygous	0.865	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-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: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-D392G	homozygous	0.979	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-A761V	het unknown	0.504	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-P828S	het unknown	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	NSD1-M2250I	het unknown	0.061	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
0.5	NSD1-M2261T	het unknown	0.064	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	NSD1-A2546T	het unknown	0.026	Unknown benign	Low clinical importance, uncertain	Benign, reported as a polymorphism.
0.5	PON1-Q192R	homozygous	0.572	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	TULP1-K261N	homozygous	0.805	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TULP1-T67R	homozygous	0.877	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL1A2-P549A	homozygous	0.907	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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-L3588P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CCM2-V53I	het unknown	0.053	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5	EGFR-R521K	het unknown	0.259	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ALS2-V368M	homozygous	0.869	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CYP3A7-R409T	homozygous	0.669	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CLCN1-H29P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CLCN1-G118W	homozygous	0.995	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-I4450V	het unknown	0.481	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-A4134V	het unknown	0.450	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-Q2463R	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-I766L	het unknown	0.404	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-T558A	het unknown	0.395	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-H12Q	homozygous	0.896	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PCDHB6-H636Q	homozygous	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.393 (possibly damaging)
0.5	PCDHB6-L684F	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging)
0.5	PCDHB6-G776D	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CARD6-L30Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CYP3A4-D174H	het unknown		Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.005 (benign)
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	HEATR7B2-D1529G	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	HEATR7B2-L1179P	homozygous	0.779	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HEATR7B2-F890L	het unknown	0.040	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	HEATR7B2-R526H	het unknown	0.199	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.947 (probably damaging)
0.5	HEATR7B2-V496I	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HEATR7B2-E468V	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.025 (benign)
0.5	HEATR7B2-W191R	homozygous	0.786	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HEATR7B2-M11V	het unknown	0.216	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.129 (benign)
0.5	LRRK2-R50H	homozygous	0.927	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRK2-I723V	het unknown	0.057	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRK2-S1647T	het unknown	0.294	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRK2-M2397T	het unknown	0.526	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TK2-P33A	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TK2-K30R	het unknown	0.270	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TSEN54-E4D	homozygous	0.675	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TSEN54-K347N	homozygous	0.430	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	TSEN54-A437V	homozygous	0.515	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ITGB4-L1779P	homozygous	0.486	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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCN4A-N1376D	homozygous	0.604	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCN4A-S524G	homozygous	0.938	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	JUP-M697L	homozygous	0.520	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL1A1-T1075A	homozygous	0.961	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRIP1-S919P	homozygous	0.652	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DPYD-I543V	het unknown	0.199	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DPYD-R29C	homozygous	0.731	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ENGASE-R321H	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.989 (probably damaging)
0.5	DSG3-S771F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	DSG3-T912A	homozygous	0.993	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	ATP8B1-A1152T	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A2-D227N	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.184 (benign), 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	homozygous	0.389	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	LSS-L642V	homozygous	0.789	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LSS-R614W	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.974 (probably damaging)
0.5	LAMA3-S2834G	homozygous	0.993	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CCDC40-L752P	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	GAA-H199R	homozygous	0.574	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GAA-R223H	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GAA-V780I	homozygous	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRIQ3-A558V	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.01 (benign)
0.5	LRRIQ3-E434K	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.955 (probably damaging)
0.5	LRRIQ3-M129I	het unknown	0.059	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.819 (possibly damaging)
0.5	DBT-S384G	homozygous	0.869	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KRTAP2-1-R59C	het unknown	0.040	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.984 (probably damaging)
0.5	KRTAP2-1-F10L	het unknown	0.330	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.914 (probably damaging)
0.5	SEC22B-D70Y	het unknown	0.003	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SEC22B-T81K	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SEC22B-R107Q	het unknown	0.002	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SEC22B-C129R	het unknown	0.085	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SEC22B-R131*	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	SEC22B-H189R	het unknown	0.508	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HPS4-Q620H	homozygous	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	HPS4-H601Y	homozygous	0.807	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HPS4-V547M	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HPS4-L438V	het unknown	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HPS4-E224G	homozygous	0.779	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCA-T1328A	het unknown	0.088	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	FANCA-S1088F	het unknown	0.036	Unknown benign	Low clinical importance, uncertain	Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.
0.5	FANCA-G809D	homozygous	0.671	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCA-P643A	het unknown	0.103	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCA-G501S	het unknown	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCA-A412V	het unknown	0.093	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCA-T266A	homozygous	0.708	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	GCSH-S21L	homozygous	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HP-D70N	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HP-K71E	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	KCNQ2-N780T	homozygous	0.509	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NQO1-P187S	het unknown	0.283	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.215 (possibly damaging)
0.5	IL6R-D358A	het unknown	0.266	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.911 (probably damaging)
0.5	CTNS-T260I	homozygous	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PDE4DIP-D1910E	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PDE4DIP-R1867C	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
0.5	PDE4DIP-A1757T	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	PDE4DIP-Q1665Shift	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.5	PDE4DIP-R1504Q	het unknown	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PDE4DIP-R1466G	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.971 (probably damaging)
0.5	PDE4DIP-W1396R	het unknown	0.667	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PDE4DIP-K1359E	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.028 (benign)
0.5	PDE4DIP-A1066T	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.123 (benign)
0.5	PDE4DIP-F1013I	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PDE4DIP-M783I	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.235 (possibly damaging)
0.5	PDE4DIP-C708R	homozygous	0.900	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	PDE4DIP-R681H	het unknown	0.282	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.997 (probably damaging)
0.5	PDE4DIP-W560*	het unknown	0.269	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Nonsense mutation
0.5	PDE4DIP-S536T	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.914 (probably damaging)
0.5	PDE4DIP-E410V	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.995 (probably damaging)
0.5	PDE4DIP-R295H	het unknown	0.254	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	PDE4DIP-S275L	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.419 (possibly damaging)
0.5	PDE4DIP-R25L	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (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	NR_027052-S129G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ERBB2-I654V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ERBB2-I655V	homozygous	0.121	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.18 (benign)
0.5	ERBB2-P1170A	homozygous	0.275	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.983 (probably damaging)
0.5	ERBB2-A1216D	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	PCNT-G704E	homozygous	0.855	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-V1038A	homozygous	0.847	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-A1194T	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.078 (benign), Testable gene in GeneTests
0.5	PCNT-N1841S	het unknown	0.221	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCNT-S2191P	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5	PCNT-Q2659H	het unknown	0.572	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5	PCNT-Q2792R	het unknown	0.732	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5	CCDC34-N298S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.929 (probably damaging)
0.5	CCDC34-E264A	het unknown	0.139	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.966 (probably damaging)
0.5	AMY2B-G319R	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	BC127741-E39*	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	MFSD6L-P214T	homozygous	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.251 (possibly 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	PPM1J-I291T	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.983 (probably damaging)
0.5	PPM1J-V236I	homozygous	0.974	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC19A1-H27R	homozygous	0.447	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign)
0.5	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: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FUT2-G258S	het unknown	0.390	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.954 (probably damaging)
0.5	HSPG2-V4332I	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-A1503V	het unknown	0.777	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-Q1294K	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-N765S	homozygous	0.896	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-M638V	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	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: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	SIX5-TS629ST	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, 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	CBR3-V244M	homozygous	0.398	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.014 (benign)
0.5	CEACAM16-L55Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ERCC2-K751Q	het unknown	0.218	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ERCC2-D312N	het unknown	0.145	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ERCC2-K181T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SEPN1-C108Y	het unknown	0.789	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SEPN1-N467K	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ZNF480-C3Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NLRP12-F402L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5	FERMT1-R526K	homozygous	0.468	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	FERMT1-R255C	het unknown	0.069	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5	FERMT1-I160T	het unknown	0.106	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5	BPIL1-D359H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.924 (probably damaging)
0.5	COL9A3-G17E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL9A3-P296L	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	COL9A3-A435E	het unknown	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	CRLS1-P193L	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (probably damaging)
0.5	PANK2-G126A	homozygous	0.917	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AK094748-D110A	het unknown	0.049	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	AK094748-S209Shift	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DEFB126-P106Shift	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	C20orf54-I303V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	C20orf54-T278M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	C20orf54-P267L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ZNF224-M118V	homozygous	0.793	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF224-H162L	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging)
0.5	ZNF224-K640E	homozygous	0.593	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	BCKDHA-P39H	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TYK2-P1104A	het unknown	0.009	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: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5	COL18A1-V144I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COL18A1-V1076I	het unknown	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COL18A1-P1121R	het unknown		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	COL5A3-A1488P	het unknown	0.382	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	COL5A3-R1122H	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	COL5A3-R322G	homozygous	0.925	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ADAMTS10-H1101Q	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ADAMTS10-T134S	homozygous	0.910	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ADAT3-K53E	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.884 (probably damaging)
0.5	PEX11G-L216F	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	AKR1A1-N52S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.987 (probably damaging)
0.5	MAN2B1-R337Q	homozygous	0.237	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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	LEPRE1-G349R	het unknown	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests
0.5	LEPRE1-A47S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CNKSR1-P284Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ATP4A-V265A	homozygous	0.676	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ATP4A-P240H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.929 (probably damaging)
0.5	PRX-G1132R	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	UNC13A-L1121P	homozygous	0.992	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	UNC13A-A447T	het unknown	0.227	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	UNC13A-A53Shift	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DEM1-L151P	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.948 (probably damaging)
0.5	UBASH3A-L28F	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.949 (probably damaging)
0.5	UBASH3A-D428E	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RASAL3-R594C	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.958 (probably damaging)
0.5	TMPRSS3-A90T	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5	ISX-S28G	homozygous	0.810	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ISX-P49S	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.928 (probably damaging)
0.5	ISX-P57S	het unknown	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.004 (benign)
0.5	ISX-R83Q	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	ISX-T182M	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.5	AGT-M268T	homozygous	0.733	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMD-R2937Q	homozygous	0.899	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMD-R2155W	homozygous	0.022	Unknown benign	Low clinical importance, likely	Probably benign.
0.5	HIP1R-C938F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	CCDC63-Y303F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.996 (probably damaging)
0.5	TOR1AIP1-M146T	het unknown	0.583	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TOR1AIP1-P276R	het unknown	0.572	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.982 (probably damaging)
0.5	TOR1AIP1-Q293H	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.874 (probably damaging)
0.5	KRT83-H493Y	homozygous	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT83-I279M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ATRX-Q929E	homozygous	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BEST3-K59Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SACS-V3369A	homozygous	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	B3GALTL-E370K	homozygous	0.612	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5	HSPA6-A150T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HSPA6-ND153SN	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HSPA6-G447V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	GPR56-S281R	het unknown	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR56-Q306H	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCM-S175F	homozygous	0.242	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCM-V878L	het unknown	0.268	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCM-P1812A	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	PSMB5-R24C	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.982 (probably damaging)
0.5	FCRLB-T32I	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	SUCLA2-S199T	homozygous	0.722	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DDR2-M441I	het unknown	0.016	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	XIAP-Q423P	homozygous	0.277	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5	LAMC2-T124M	het unknown	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	LAMC2-A200E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MEN1-T546A	homozygous	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TCIRG1-L257Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TCIRG1-Q259L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AHNAK-Q3003K	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AHNAK-G2527D	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	AHNAK-V1274A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	AHNAK-G596E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MS4A14-I56Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	MS4A14-N177Y	homozygous	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	F8-D1260E	homozygous	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PEX16-V167M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PEX16-V116I	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	EPHX1-Y113H	het unknown	0.290	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging)
0.5	CPT1A-A275T	het unknown	0.030	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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	F9-T194A	homozygous	0.144	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CPN2-V536M	het unknown	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.5	CPN2-Q509R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CPN2-Q509R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CPN2-A305T	het unknown	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5	COL2A1-T9S	homozygous	0.598	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-L153M	homozygous	0.182	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-S180A	homozygous	0.229	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	VWF-F2561Y	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	VWF-T1381A	homozygous	0.754	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	VWF-Q852R	homozygous	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	VWF-H484R	het unknown	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	CACNA1S-L1800S	het unknown	0.251	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CACNA1S-R1539C	het unknown	0.073	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CACNA1S-L458H	homozygous		Unknown benign	Low clinical importance, likely	Common polymorphism
0.5	ASPM-L2647I	het unknown	0.198	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ASPM-Q2620H	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ASPM-S2562G	het unknown	0.212	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ASPM-Y2494H	homozygous	0.992	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-T1056P	homozygous	0.838	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-C1506S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-M1808I	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DDHD1-G106A	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	SIX6-H141N	homozygous	0.314	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ADAMTSL3-H146R	het unknown	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	het unknown	0.711	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 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	ALPK3-T414S	het unknown	0.155	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.436 (possibly damaging)
0.5	ALPK3-G579E	het unknown	0.149	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.961 (probably damaging)
0.5	ALPK3-P1299L	homozygous	0.827	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ALPK3-A1557D	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.009 (benign)
0.5	ALPK3-L1622P	homozygous	0.136	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.895 (probably damaging)
0.5	ALPK3-K1838Q	het unknown	0.020	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.949 (probably damaging)
0.5	BBS4-I354T	homozygous	0.399	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HEXA-I436V	homozygous	0.748	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC28A2-P22L	het unknown	0.248	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC28A2-S75R	homozygous	0.253	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	FBN1-C472Y	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NR2E3-T318Shift	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift, Testable gene in GeneTests
0.5	GON4L-T1545Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	GON4L-M1544Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	FANCI-A86V	homozygous	0.219	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCI-C742S	homozygous	0.234	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GTF3C1-R1630H	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	CD19-L174V	homozygous	0.876	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SALL1-V1275I	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNRC6A-Q1112H	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	ERCC4-R415Q	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	GFER-F166L	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PKD1-H2638R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-V1339M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-L950P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-HC507QP	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYH9-I1626V	homozygous	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYH9-L46F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-Q398Del	het unknown	0.308	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TRIOBP-K413R	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	TRIOBP-S540Del	het unknown	0.114	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TRIOBP-N863K	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5	TRIOBP-P1030R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5	TRIOBP-F1187L	het unknown	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5	TRIOBP-H1300R	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), 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	KCNJ10-R18Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
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	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	PPARA-L162V	het unknown	0.012	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.013 (benign)
0.5	RNF207-N573S	het unknown	0.474	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RNF207-G603A	het unknown	0.165	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign)
0.5	YLPM1-P254L	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.981 (probably damaging)
0.5	SYNE2-R1393W	het unknown	0.036	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.54 (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	SYNE2-H3309R	homozygous	0.647	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	SYNE2-E4913K	het unknown	0.030	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.251 (possibly damaging), Testable gene in GeneTests
0.5	KAL1-V534I	homozygous	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ZFYVE26-N1891S	homozygous	0.900	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ZFYVE26-T898S	het unknown	0.046	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5	SLAMF1-P333T	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	SPTBN5-L3460R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SPTBN5-A3240G	het unknown	0.197	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SPTBN5-Y2922H	het unknown	0.078	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SPTBN5-Q2827R	het unknown	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SPTBN5-G2786R	het unknown	0.182	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SPTBN5-T2678I	het unknown	0.221	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SPTBN5-R2081Q	het unknown	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SPTBN5-R1848*	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	SPTBN5-R1310H	het unknown	0.139	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SPTBN5-V1025I	het unknown	0.201	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SPTBN5-C1000R	homozygous	0.859	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SPTBN5-Q960H	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SPTBN5-H398R	homozygous	0.870	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NM_001080841-R42C	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NM_001080841-R102*	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
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	TUBGCP6-R1763W	het unknown	0.020	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	TUBGCP6-V1621L	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TUBGCP6-T1377A	homozygous	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	TUBGCP6-L567S	homozygous	0.860	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.012 (benign)
0.5	PLA2G4D-R807Q	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.976 (probably damaging)
0.5	PLA2G4D-R783Q	het unknown	0.054	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.01 (benign)
0.5	PLA2G4D-A649G	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PLA2G4D-K639Q	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PLA2G4D-Y627C	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PLA2G4D-R601H	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	PLA2G4D-S434T	het unknown	0.266	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.064 (benign)
0.5	PLA2G4D-P275R	het unknown	0.250	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PLA2G4D-P10T	het unknown	0.080	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.11 (benign)
0.5	ZFYVE19-R48Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ZFYVE19-S376A	homozygous	0.814	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	BDNF-V148M	het unknown	0.208	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	FHAD1-R182H	het unknown	0.229	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FHAD1-E919G	het unknown	0.259	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.014 (benign)
0.5	FHAD1-M1262V	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging)
0.5	FHAD1-I1325V	het unknown	0.474	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	BAHD1-E26G	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.983 (probably damaging)
0.5	BAHD1-Q298K	het unknown	0.706	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.16 (benign)
0.375	MMP9-Q279R	het unknown	0.477	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.375	MMP9-C373*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.375	MMP9-R574P	homozygous	0.813	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.375	EVC-Y258H	het unknown	0.721	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.375	EVC-F583S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.375	EVC-E585G	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.375	THBD-P501L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	THBD-A473V	het unknown	0.117	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	TMEM67-I604V	het unknown	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	TMEM67-P721S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALG1L2-T84A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ALG1L2-L157Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	COL11A1-S1547P	het unknown	0.752	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL11A1-P1335L	het unknown	0.479	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CDA-K27Q	het unknown	0.190	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	GLI2-A1156S	het unknown	0.536	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GLI2-D1306N	het unknown	0.595	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MYO7B-G21S	het unknown	0.461	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MYO7B-V1348A	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.006 (benign)
0.25	MYO7B-E1350L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MYO7B-L1351Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	MYO7B-E1647D	het unknown	0.137	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.136 (benign)
0.25	MYO7B-Q2105R	het unknown	0.169	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.949 (probably damaging)
0.25	SCN1A-A1056T	het unknown	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LRP2-I4210L	homozygous	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.993 (probably damaging)
0.25	LRP2-K4094E	het unknown	0.744	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	LRP2-A2872T	het unknown	0.327	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	LRP2-N83S	het unknown	0.306	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	ALMS1-S524SP	het unknown	0.578	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALMS1-V671G	het unknown	0.857	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALMS1-S2574N	het unknown	0.144	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALMS1-D2672H	het unknown	0.136	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALMS1-R4029K	het unknown	0.527	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FMO3-E158K	het unknown	0.374	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COG2-I146Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	COG2-I346V	het unknown	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CFHR1-E175Q	het unknown	0.518	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFH-V62I	het unknown	0.495	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFH-H402Y	het unknown	0.818	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CEP350-E945Q	homozygous	0.586	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.168 (benign)
0.25	CEP350-D1804Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	OTOF-R82C	het unknown	0.229	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25	GPATCH4-F357Shift	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.25	GPATCH4-A151Shift	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	GBE1-I334V	het unknown	0.979	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MYH15-T1125A	het unknown	0.180	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.007 (benign)
0.25	MYH15-H1015D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MYH15-H504Y	homozygous	0.578	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.997 (probably damaging)
0.25	DRD3-G9S	het unknown	0.482	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	IQCB1-C434Y	het unknown	0.198	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25	POLQ-A2547V	het unknown	0.044	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	POLQ-Q2513R	homozygous	0.734	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	POLQ-I1421Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	POLQ-H1201R	het unknown	0.306	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	POLQ-K1025Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	POLQ-T982R	het unknown	0.703	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	POLQ-R66I	homozygous	0.973	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	POMGNT1-M623V	homozygous	0.878	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	POMGNT1-W612R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	LEPR-Q223R	het unknown	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25	GBA-K144R	het unknown	0.619	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GBA-R140W	het unknown	0.357	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CTLA4-T17A	het unknown	0.463	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.25	ATIC-T116S	het unknown	0.184	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.25	KBTBD5-N345S	het unknown	0.609	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	KBTBD5-L618Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	KBTBD5-C617R	het unknown	0.901	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	COL6A3-A3012P	het unknown	0.843	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL6A3-M2927T	het unknown	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DBH-A318S	het unknown	0.104	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	CALHM1-L86P	het unknown	1.000	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FREM2-S745P	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	FREM2-F1070S	het unknown	0.527	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	FREM2-T3013M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ACADS-G209S	het unknown	0.128	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25	MMAB-M239K	het unknown	0.469	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	KRT6C-R182Q	het unknown	0.281	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	IRS2-G1057D	het unknown	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.024 (benign)
0.25	TEP1-I2486M	het unknown	0.373	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TEP1-V2214I	het unknown	0.326	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DUOX2-S1067L	homozygous	0.662	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	DUOX2-P303R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	DUOX2-P138L	homozygous	0.926	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SPG11-F463S	het unknown	0.470	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	XRCC3-T241M	het unknown	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.188 (benign)
0.25	MYH6-V1101A	het unknown	0.422	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SERPINA1-V237A	het unknown	0.293	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CELA1-L210Shift	het unknown	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.25	CELA1-M59V	het unknown	0.142	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging)
0.25	CELA1-Y5P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CELA1-V3Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SLCO1B3-S112A	het unknown	0.646	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLCO1B3-M233I	het unknown	0.659	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.131 (benign)
0.25	SMPD1-G508R	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TRIM5-G249D	het unknown	0.278	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TRIM5-A168Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	H19-G355R	het unknown	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	H19-V94I	het unknown	0.361	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	H19-W38R	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	OPA1-S158N	het unknown	0.482	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25	PDHX-R15C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PDHX-R23C	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PDHX-R24G	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.055 (benign), Testable gene in GeneTests
0.25	ALX4-P102S	het unknown	0.217	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALX4-R35T	het unknown	0.393	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	SNX19-L878R	het unknown	0.808	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SNX19-N753S	het unknown	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SNX19-L618F	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SNX19-P480L	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.977 (probably damaging)
0.25	SNX19-S407G	het unknown	0.202	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SNX19-D396E	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SNX19-G381S	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	SNX19-V361L	het unknown	0.671	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DPAGT1-I393V	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DYNC2H1-R2871Q	homozygous	0.705	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	DYNC2H1-F4310L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PTPRJ-Q276P	het unknown	0.173	Complex/Other not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.007 (benign)
0.25	PTPRJ-R326Q	het unknown	0.249	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.004 (benign)
0.25	PTPRJ-E872D	het unknown	0.368	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.047 (benign)
0.25	MYO7A-L16S	het unknown	0.550	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SLC28A1-L140LV	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLC28A1-V189I	het unknown	0.313	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLC28A1-Q237K	het unknown	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SLC28A1-D521N	het unknown	0.226	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DHODH-K7Q	het unknown	0.560	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.004 (benign)
0.25	TDRD12-K413E	homozygous	0.603	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TDRD12-S553Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	TDRD12-T748M	homozygous	0.087	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.983 (probably damaging)
0.25	TDRD12-Q1117L	homozygous	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CYP4F2-V433M	het unknown	0.216	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.309 (possibly damaging)
0.25	CYP4F2-W12G	het unknown	0.058	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	NOTCH3-A2223V	het unknown	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	STXBP2-I526V	het unknown	0.725	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CD3EAP-K428Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CD3EAP-Q504K	het unknown	0.284	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign)
0.25	SLC8A2-G336Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SLC8A2-V335L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SHANK3-I245T	het unknown	0.357	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ARSA-T391S	het unknown	0.423	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	KCNE1-S38G	het unknown	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	FPR1-E346A	het unknown	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FPR1-N192K	het unknown	0.516	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FPR1-I11T	het unknown	0.831	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SALL4-I798L	het unknown	0.100	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	RAX-D44E	het unknown	0.189	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	DSG2-R773K	het unknown	0.221	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	MPDU1-A229T	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CHRNB1-E32G	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	YBX2-R280Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	YBX2-S63P	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.017 (benign)
0.25	YBX2-G9V	homozygous	0.912	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	LRRC50-L659V	het unknown	0.112	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	RAI1-G90A	het unknown	0.281	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RAI1-P165T	het unknown	0.542	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	LRRC48-R191W	het unknown	0.578	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	LRRC48-R444Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	DSC2-I776V	het unknown	0.223	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SGSH-R456H	het unknown	0.302	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SGSH-G251A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ACOX1-I312M	homozygous	0.492	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	ACOX1-R6C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SLFN12L-Y412C	het unknown	0.804	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SLFN12L-N233Shift	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	GPR123-G55S	het unknown	0.656	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	GPR123-R60G	het unknown	0.653	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	GPR123-A218P	het unknown	0.585	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	GPR123-G496Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	GPR123-R539G	het unknown	0.600	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	GARS-P42A	het unknown	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SLC22A16-H49R	het unknown	0.333	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	LMBRD1-D469E	het unknown	0.393	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	KIF6-W719R	het unknown	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.01 (benign)
0.25	FANCE-A502T	het unknown	0.214	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	EYA4-G277S	het unknown	0.467	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	SOD2-V16A	het unknown	0.362	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PDE6C-S270T	het unknown	0.419	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FAM20C-I320Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	FAM20C-N564D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PARK2-S167N	het unknown	0.143	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SLC22A2-S270A	het unknown	0.876	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PLG-D472N	het unknown	0.151	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	IP6K3-I368Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	IP6K3-V312I	het unknown	0.452	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.782 (possibly damaging)
0.25	COL11A2-E276K	het unknown	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	GFM2-R573H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	GFM2-L415Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	GHR-I544L	het unknown	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25	TLR6-S249P	het unknown	0.855	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DOK7-G461D	het unknown	0.128	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	TLR1-S602I	het unknown	0.727	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TLR1-H305L	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.318 (possibly damaging)
0.25	TLR1-N248S	het unknown	0.643	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	APC-V1822D	het unknown	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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	MICA-L145V	het unknown	0.191	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-G198S	het unknown	0.337	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-T204R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MICA-I236T	het unknown	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MICA-R274Q	het unknown	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MICA-G318Shift	het unknown	0.163	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.25	HLA-C-A366Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	HLA-C-T363A	het unknown	0.727	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HLA-C-C350S	het unknown	0.730	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.009 (benign)
0.25	HLA-C-TAM329AVV	het unknown	0.224	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HLA-C-V327M	het unknown	0.089	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HLA-C-Q291P	het unknown	0.605	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HLA-C-M285V	het unknown	0.712	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HLA-C-R243W	het unknown	0.259	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HLA-C-S140F	het unknown	0.316	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	HLA-C-D138N	het unknown	0.184	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HLA-C-K90N	het unknown	0.119	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
0.25	HLA-C-S48A	het unknown	0.851	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HLA-C-R38W	het unknown	0.056	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.25	HLA-C-A35S	het unknown	0.137	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	HLA-C-D33S	het unknown	0.100	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CDSN-N527D	homozygous	0.849	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CDSN-L410S	het unknown	0.699	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CDSN-S408A	het unknown	0.162	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CDSN-N143S	homozygous	0.848	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CDSN-M18L	het unknown	0.298	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TCOF1-P1139R	het unknown	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TRIM15-S324N	het unknown	0.155	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	IQCE-V301Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	IQCE-L666V	het unknown	0.416	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	IQCE-T690M	het unknown	0.057	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.966 (probably damaging)
0.25	NBN-E185Q	het unknown	0.338	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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	KANK1-E432Q	het unknown	0.145	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.009 (benign)
0.25	KANK1-A654D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	KANK1-Y845Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	KANK1-S846R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	GPT-H14N	het unknown	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NPSR1-N107I	het unknown	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	NPSR1-S143G	het unknown	0.013	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.796 (possibly damaging)
0.25	NPSR1-Q344R	het unknown	0.309	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SVEP1-K3383Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SVEP1-S3127P	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.157 (benign)
0.25	SVEP1-T1878I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.83 (possibly damaging)
0.25	SVEP1-M1444L	het unknown	0.352	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	SVEP1-K1416Q	het unknown	0.090	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	SVEP1-K899R	homozygous	0.178	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SVEP1-D693E	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.031 (benign)
0.25	SVEP1-V507I	het unknown	0.282	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging)
0.25	CHD5-S1539P	het unknown	0.716	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CHD5-I612M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CHD5-E87Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	BMPR1A-P2T	het unknown	0.549	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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	PTF1A-S263P	het unknown	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25	C10orf113-D100H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C10orf113-R62G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C10orf113-S22Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	TG-S734A	het unknown	0.698	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TG-M1028V	het unknown	0.696	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	TG-D1312G	homozygous	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TG-D1838N	homozygous	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25	TG-R1999W	het unknown	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TG-R2530Q	het unknown	0.586	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	NOS3-D298E	het unknown	0.844	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CFTR-V470M	het unknown	0.621	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ABCB1-S893A	het unknown	0.625	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	GLI3-T183A	het unknown	0.663	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TXNDC3-R43K	het unknown	0.291	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TXNDC3-C208R	het unknown	0.740	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TXNDC3-I493T	het unknown	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25	PON2-S311C	het unknown	0.258	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PON2-A148G	het unknown	0.257	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	CHRNA2-T125A	het unknown	0.644	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CHRNA2-T22I	het unknown	0.256	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GPR124-C417CRDITRV	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	GPR124-N421Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	EPHX2-R287Q	het unknown	0.148	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 1.0 (probably damaging)
0.25	RP1-N985Y	het unknown	0.206	Unknown benign	Low clinical importance, uncertain	Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.
0.25	RP1-C2033Y	het unknown	0.186	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0	MBL2-G54D	het unknown	0.102	Recessive pathogenic	Low clinical importance, likely	This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).
0	CREBBP-P1878Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
0	CLEC7A-Y238*	het unknown	0.043	Recessive pathogenic	Low clinical importance, uncertain	This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.
0	COL5A1-Q547Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
0	HFE-C282Y	het unknown	0.018	Recessive pathogenic	Low clinical importance, well-established	This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition.
0	PRPH-D141Y	het unknown		Recessive pathogenic	High clinical importance, uncertain	Associated with ALS in a recessive manner, may cause the disease or susceptibility to it when homozygous. Very rare, was seen homozygously in 1 out of 30 ALS cases. The mutant protein forms abnormal aggregates.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,758,097,038 bases (96.5% of callable positions, 89.5% of total positions)

Coding region coverage: 32,796,288 bases (98.5% of all genes, 99.1% of genes with clinical testing available)

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

huB1FD55 - GET-Evidence variant report

Variant report for huB1FD55

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