Variant report for hu6E4515
- Data source: PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47)
- This report: evidence.pgp-hms.org/genomes?68140259c37993ca4963426a4aaa64e1ac5646e6
- Person ID: hu6E4515
- public profile: my.pgp-hms.org/profile/hu6E4515
- Download: source data, dbSNP and nsSNP report (117 MB)
- Processing status: unknown
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | ABCA4-G1961E | High | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.00269567 | This rare variant causes Stargardt Disease in a recessive manner. It was hypothesized to increase susceptibility to age-related macular degeneration, but subsequent studies have contradicted this hypothesis. | 1 |
| 2 | CEP290-D983Shift | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | Although there are no known reports for this variant, this is predicted to be very disruptive in a gene associated with recessive ciliopathy disorders (mostly Joubert Syndrome and/or Leber's Congenital Amaurosis). This variant would be predicted to have a similarly severe recessive pathogenic effect. | 1 | |
| 3 | COL7A1-P2847Shift | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | This frameshift mutation is predicted to cause dystrophic epidermolysis bullosa in a recessive manner. Although there are no known reports of this variant, other disruptive variants in this gene cause this disease. Notably, this variant is nearer to the end than most reports (codon 2,847 out of 2,944 total), this may reduce the severity of its impact on protein function. | 1 | |
| 4 | PPT1-M57Shift | High | Uncertain | Uncertain not reviewed Unknown, Heterozygous | Although there are no known reports for this variant, this is predicted to be very disruptive. Other disruptive mutations in this gene cause infantile Neuronal ceroid-lipofuscinosis in a recessive manner, this variant is predicted to have the same effect. | 1 | |
| 5 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.152073 | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. | 1 |
| 6 | MYO1A-G662E | Moderate | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.0257483 | Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss. | 1 |
| 7 | EDNRB-Y293Shift | Moderate | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | Reported as "EDNRB, 1-BP INS, 878T" in OMIM, this frameshift variant has been reported to cause increased susceptibility to Hirschsprung's disease (partial lack of nerves in the bowel, potentially leading to severe constipation and digestive issues). It may also be associated with Waardenburg syndrome type 4 in a recessive or incomplete-dominance manner. | 1 | |
| 8 | PIGR-A580V | Low | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.247537 | In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%. | 1 |
| 9 | 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 |
| 10 | MBL2-R52C | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.048615 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C). | 1 |
| 11 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Homozygous | 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 |
| 12 | 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 |
| 13 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 14 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 15 | SLC5A2-N654S | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.00706451 | Some authors report this rare variant as a nonpathogenic polymorphism, others suggest it may cause renal glucosuria in a recessive manner when compound heterozygous with other pathogenic variants. | 1 |
| 16 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.308886 | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). | 1 |
| 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 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 0.490519 | This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. | 1 |
| 19 | 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 |
| 20 | TOR1A-D216H | Low | Likely | Likely protective Unknown, Heterozygous | 0.102993 | This SNP has been shown to be benign and play a protective role against Dystonia. | 1 |
| 21 | IL7R-T244I | Low | Likely | Likely protective Unknown, Heterozygous | 0.210169 | The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). | 1 |
| 22 | MTR-D919G | Low | Uncertain | Uncertain protective Complex/Other, Heterozygous | 0.217234 | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. | 1 |
| 23 | COL6A3-D2831H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0678565 | Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene. | 1 |
| 24 | NOTCH3-A1020P | Low | Likely | Likely benign Unknown, Heterozygous | 0.111835 | Probably nonpathogenic. Reported by Scheid et al. as possibly causing CADASIL in a dominant manner, but an immediate follow-up from Quattrone et al. disagreed with this hypothesis, pointing to the presence of the variant in their own controls and the high allele frequency for the variant seen in dbSNP data. | 1 |
| 25 | ADA-K80R | Low | Likely | Likely benign Recessive, Carrier (Heterozygous) | 0.0635806 | This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism. | 1 |
| 26 | FANCA-M717I | Low | Likely | Likely benign Unknown, Heterozygous | 0.0216583 | Rare polymorphism, not considered pathogenic. | 1 |
| 27 | FANCI-P55L | Low | Likely | Likely benign Unknown, Heterozygous | 0.0507529 | Probably benign. | 1 |
| 28 | PMS2-P470S | Low | Likely | Likely benign Unknown, Heterozygous | 0.374884 | Benign, common variant. | 1 |
| 29 | DYNC2H1-Q304L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0484135 | Presumed benign. | 1 |
| 30 | VCAN-T689A | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00644137 | Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect. | 1 |
| 31 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 32 | MAPT-R370W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155549 | Probably benign. | 1 |
| 33 | ELN-G581R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.072876 | Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data). | 1 |
| 34 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 35 | TCIRG1-R56W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0441778 | Probably benign. One publication implicates the variant in causing osteopetrosis, but this is contradicted by the relatively high allele frequency for the variant in Caucasians (5%, 1 in 400 homozygous) while that disease is extremely rare (1 in 250,000). | 1 |
| 36 | NKX2-5-E21Q | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.000470189 | Probably nonpathogenic. Reported in a single case of tetralogy of fallot (a congenital heart defect), although an unaffected mother and grandmother were also carriers. A later study also found the variant in an affected family, but the variant did not segregate with disease (other affected family members were *not* carriers) -- they conclude that it is probably a nonpathogenic polymorphism. | 1 |
| 37 | AARS-K967M | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0107827 | Tentatively presumed benign because seen in a healthy PGP participant. A damaging effect to the gene is predicted by Polyphen 2 and other variants are reported to cause Chacot-Marie-Tooth neuropathy in a dominant manner. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 31756872 / 33282720 = 95.42%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.77370478983382 | 1389 | 6138 | 955553-955753, 957660, 957704, 957710-957719, 957756-957774, 976045-976087, 976097-976121, 976137-976181, 976197-976260, 976553-976669, 976677-976734, 976776-976777, 976898-976929, 976961-976971, 977040, 977060-977080, 977517-977532, 978687, 978697-978704, 978709-978715, 978728, 978749, 978752-978753, 978767-978772, 978950-978952, 979058, 979384-979388, 979493-979494, 981779-981797, 981821-981854, 981858, 981872-982037, 982069-982089, 982217-982219, 982225-982235, 982246-982253, 982322, 983008-983011, 983219, 983231, 983241-983242, 983406-983441, 983451-983457, 983478-983512, 983536-983542, 983558, 983564-983576, 983589-983745, 984306, 984416-984439, 984686-984692, 984701-984711, 984716-984717, 985613, 985667-985695, 985848-985853, 986188-986196, 986633, 986683-986690, 986833-986869, 986952-986957, 987011, 987191-987195, 990276-990284 |
| 2 | GABRD | 1 | 0.94186902133922 | 79 | 1359 | 1950863-1950930, 1957033-1957040, 1961134, 1961137, 1961486 |
| 3 | PEX10 | 1 | 0.85626911314985 | 141 | 981 | 2337205-2337208, 2337923-2337944, 2337951-2337959, 2338282, 2338322, 2339988-2339989, 2339996-2340004, 2340205, 2340212-2340215, 2343830-2343833, 2343841-2343886, 2343894-2343907, 2343918-2343941 |
| 4 | NPHP4 | 1 | 0.97640738145293 | 101 | 4281 | 5925300, 5925322-5925328, 5935061-5935067, 5935079-5935080, 5935084-5935085, 5935091-5935160, 5947484-5947492, 5969232-5969233, 6008248 |
| 5 | ESPN | 1 | 0.63625730994152 | 933 | 2565 | 6485016-6485180, 6485194-6485202, 6485208-6485242, 6485249-6485265, 6485274-6485293, 6485299, 6485304-6485309, 6488333, 6488378-6488392, 6500314, 6500373-6500377, 6500410-6500458, 6500494-6500495, 6500686-6500868, 6501032-6501041, 6501049, 6501054, 6501058-6501065, 6505726-6505738, 6505838-6505883, 6508701-6508783, 6508807-6508859, 6508876-6509064, 6509082-6509092, 6509108, 6509116-6509121, 6512130, 6517319 |
| 6 | PLEKHG5 | 1 | 0.88773910316714 | 358 | 3189 | 6528255-6528257, 6530367, 6530585, 6530851-6530854, 6530935-6530944, 6531571-6531609, 6532651-6532669, 6533405-6533416, 6534080-6534173, 6534179-6534185, 6534198-6534224, 6534511-6534647, 6557380-6557383 |
| 7 | KIF1B | 1 | 0.99604743083004 | 21 | 5313 | 10356997-10357003, 10357013-10357026 |
| 8 | PEX14 | 1 | 0.9673721340388 | 37 | 1134 | 10690008-10690044 |
| 9 | TARDBP | 1 | 0.99437751004016 | 7 | 1245 | 11082356-11082362 |
| 10 | MASP2 | 1 | 0.99708879184862 | 6 | 2061 | 11094888-11094893 |
| 11 | MTHFR | 1 | 0.99289700659564 | 14 | 1971 | 11853987, 11854871-11854875, 11861371-11861372, 11863114-11863119 |
| 12 | PLOD1 | 1 | 0.9757326007326 | 53 | 2184 | 11994837-11994847, 11994858-11994889, 12010469-12010470, 12018617, 12023651, 12023656, 12023660-12023664 |
| 13 | CLCNKA | 1 | 0.95494186046512 | 93 | 2064 | 16353251-16353254, 16355301-16355331, 16355339-16355340, 16356479, 16357061, 16357064, 16358212-16358225, 16358268-16358274, 16358720-16358741, 16358771-16358780 |
| 14 | CLCNKB | 1 | 0.99418604651163 | 12 | 2064 | 16374486, 16374515-16374518, 16383399-16383405 |
| 15 | ATP13A2 | 1 | 0.95653401072537 | 154 | 3543 | 17312739-17312746, 17312801, 17313339-17313341, 17313352-17313357, 17313612-17313657, 17313680-17313686, 17314636, 17314919-17314923, 17314937-17314942, 17320278-17320321, 17322482-17322483, 17322487-17322489, 17322493, 17322498, 17322502-17322505, 17322588-17322594, 17323562-17323563, 17326741-17326742, 17327008, 17331930-17331933 |
| 16 | ALDH4A1 | 1 | 0.9887706855792 | 19 | 1692 | 19202920-19202922, 19204003, 19204028-19204029, 19204034-19204035, 19228997-19228998, 19229002-19229003, 19229007-19229013 |
| 17 | PINK1 | 1 | 0.77262313860252 | 397 | 1746 | 20960042-20960428, 20975061-20975064, 20975075-20975080 |
| 18 | ALPL | 1 | 0.99238095238095 | 12 | 1575 | 21900284, 21903900-21903906, 21904076-21904077, 21904084, 21904087 |
| 19 | HSPG2 | 1 | 0.98641469338191 | 179 | 13176 | 22149847-22149852, 22149930, 22156515-22156518, 22167701, 22167754, 22168110, 22168113, 22170692-22170707, 22170776-22170777, 22181413-22181417, 22181447-22181466, 22191438-22191452, 22192231, 22198699-22198702, 22199499-22199503, 22199512, 22199525-22199528, 22207020-22207021, 22207252-22207263, 22207285-22207291, 22213708-22213714, 22263648-22263710 |
| 20 | WNT4 | 1 | 0.88352272727273 | 123 | 1056 | 22446688, 22446859-22446868, 22447955-22447989, 22469339-22469415 |
| 21 | GALE | 1 | 0.99713467048711 | 3 | 1047 | 24122659-24122660, 24122755 |
| 22 | FUCA1 | 1 | 0.98501070663812 | 21 | 1401 | 24194487, 24194491-24194494, 24194741-24194756 |
| 23 | LDLRAP1 | 1 | 0.88673139158576 | 105 | 927 | 25870190-25870277, 25890186, 25893442-25893445, 25893466-25893476, 25893483 |
| 24 | SEPN1 | 1 | 0.88908872901679 | 185 | 1668 | 26126722-26126904, 26138360-26138361 |
| 25 | HPCA | 1 | 0.92955326460481 | 41 | 582 | 33359387-33359406, 33359418-33359438 |
| 26 | GJB3 | 1 | 0.99753997539975 | 2 | 813 | 35251054-35251055 |
| 27 | COL9A2 | 1 | 0.97584541062802 | 50 | 2070 | 40768406-40768408, 40769493-40769500, 40769504, 40769508, 40781295-40781311, 40781317-40781323, 40782857-40782869 |
| 28 | KCNQ4 | 1 | 0.86111111111111 | 290 | 2088 | 41249766-41249908, 41249922-41249935, 41249943, 41249946-41249947, 41249987-41249993, 41250006-41250021, 41250038-41250040, 41284193-41284224, 41284239-41284263, 41284289, 41284295-41284310, 41284321, 41284324, 41296825-41296828, 41296973-41296975, 41303987, 41303993-41303998, 41304048, 41304118-41304123, 41304132-41304135, 41304169-41304171 |
| 29 | CLDN19 | 1 | 0.93777777777778 | 42 | 675 | 43201549-43201590 |
| 30 | LEPRE1 | 1 | 0.92039800995025 | 176 | 2211 | 43212431, 43232180-43232214, 43232252-43232280, 43232387, 43232395-43232401, 43232479-43232539, 43232586-43232606, 43232622-43232642 |
| 31 | SLC2A1 | 1 | 0.99323867478026 | 10 | 1479 | 43393367-43393368, 43424315-43424322 |
| 32 | MPL | 1 | 0.96960167714885 | 58 | 1908 | 43805714-43805715, 43814936-43814957, 43814979-43815011, 43818356 |
| 33 | MUTYH | 1 | 0.99235181644359 | 12 | 1569 | 45797119, 45797124, 45797135-45797140, 45798095-45798096, 45798456, 45798460 |
| 34 | CPT2 | 1 | 0.99443601416287 | 11 | 1977 | 53662617-53662620, 53678978-53678984 |
| 35 | DHCR24 | 1 | 0.85041908446164 | 232 | 1551 | 55340771, 55352562-55352792 |
| 36 | PCSK9 | 1 | 0.92977392977393 | 146 | 2079 | 55505529, 55505538-55505565, 55505590, 55518403-55518409, 55521688-55521735, 55521756-55521766, 55521775, 55524184-55524192, 55524254-55524281, 55529180, 55529206-55529216 |
| 37 | GLMN | 1 | 0.99943977591036 | 1 | 1785 | 92733535 |
| 38 | RPL5 | 1 | 0.98769574944072 | 11 | 894 | 93307396, 93307405-93307414 |
| 39 | ABCA4 | 1 | 0.99677513925535 | 22 | 6822 | 94497392-94497410, 94497415-94497417 |
| 40 | DPYD | 1 | 0.99805068226121 | 6 | 3078 | 97848000-97848005 |
| 41 | COL11A1 | 1 | 0.97947590251054 | 112 | 5457 | 103363681-103363702, 103364222-103364241, 103364272-103364290, 103364315-103364328, 103364522, 103364527-103364535, 103364543-103364550, 103435797-103435802, 103440420, 103471827-103471829, 103471833-103471837, 103471854-103471857 |
| 42 | GSTM1 | 1 | 0.98934550989346 | 7 | 657 | 110235885-110235891 |
| 43 | AMPD1 | 1 | 0.99910873440285 | 2 | 2244 | 115236067-115236068 |
| 44 | NGF | 1 | 0.99449035812672 | 4 | 726 | 115828707-115828710 |
| 45 | PHGDH | 1 | 0.99937578027466 | 1 | 1602 | 120278051 |
| 46 | NOTCH2 | 1 | 0.98624595469256 | 102 | 7416 | 120458206-120458209, 120539665-120539690, 120539739-120539745, 120539778-120539784, 120539834-120539840, 120539913-120539919, 120539933-120539955, 120572609-120572610, 120611957-120611967, 120612003-120612010 |
| 47 | HFE2 | 1 | 0.99765807962529 | 3 | 1281 | 145415575-145415577 |
| 48 | FLG | 1 | 0.99835877236173 | 20 | 12186 | 152276686, 152277524, 152277527, 152279403-152279409, 152280081-152280083, 152282291-152282292, 152283975, 152286125-152286128 |
| 49 | CHRNB2 | 1 | 0.94632206759443 | 81 | 1509 | 154540521-154540534, 154540556-154540565, 154540571-154540583, 154544089, 154544247-154544265, 154544268, 154544271, 154544381-154544390, 154544405, 154544408-154544418 |
| 50 | PKLR | 1 | 0.99826086956522 | 3 | 1725 | 155269991-155269993 |
| 51 | LMNA | 1 | 0.99294532627866 | 4 | 567 | 156105052, 156105759-156105761 |
| 52 | LMNA | 1 | 0.98546365914787 | 29 | 1995 | 156084726, 156084730-156084731, 156084739, 156084743-156084756, 156100452, 156105052, 156105759-156105761, 156108297, 156108304-156108307, 156108338 |
| 53 | SEMA4A | 1 | 0.97550306211724 | 56 | 2286 | 156124430-156124438, 156130806, 156131137-156131138, 156131209-156131233, 156131243, 156131249-156131252, 156146427-156146430, 156146559-156146568 |
| 54 | NTRK1 | 1 | 0.95357590966123 | 111 | 2391 | 156830727-156830809, 156830818-156830831, 156837945-156837950, 156843446, 156843451-156843456, 156843588 |
| 55 | NDUFS2 | 1 | 0.9985632183908 | 2 | 1392 | 161172215, 161172218 |
| 56 | MPZ | 1 | 0.92664092664093 | 57 | 777 | 161275905-161275913, 161275950, 161276185-161276186, 161279635, 161279651-161279675, 161279685-161279693, 161279699-161279704, 161279710-161279713 |
| 57 | SLC19A2 | 1 | 0.99531459170013 | 7 | 1494 | 169454935-169454941 |
| 58 | F5 | 1 | 0.99191011235955 | 54 | 6675 | 169509580, 169510337-169510343, 169510472-169510478, 169510568-169510606 |
| 59 | FMO3 | 1 | 0.99874921826141 | 2 | 1599 | 171077351-171077352 |
| 60 | DARS2 | 1 | 0.9984520123839 | 3 | 1938 | 173819513, 173819516, 173819521 |
| 61 | NPHS2 | 1 | 0.93315972222222 | 77 | 1152 | 179544816, 179544864-179544904, 179544941-179544949, 179544957-179544973, 179544976-179544977, 179544990-179544996 |
| 62 | LHX4 | 1 | 0.99062233589088 | 11 | 1173 | 180199672-180199682 |
| 63 | RNASEL | 1 | 0.98921832884097 | 24 | 2226 | 182555114-182555115, 182555271-182555291, 182555297 |
| 64 | LAMC2 | 1 | 0.99609156895589 | 14 | 3582 | 183201437-183201450 |
| 65 | HMCN1 | 1 | 0.99994085639934 | 1 | 16908 | 185897744 |
| 66 | CFH | 1 | 0.98538961038961 | 54 | 3696 | 196654199-196654202, 196658717-196658740, 196659193-196659211, 196682989-196682990, 196706611-196706614, 196715024 |
| 67 | CFHR1 | 1 | 0.18630412890232 | 808 | 993 | 196794607-196794801, 196795959-196796135, 196797200-196797319, 196797354, 196799630-196799812, 196800927-196800948, 196800982-196801057, 196801096-196801129 |
| 68 | CFHR5 | 1 | 0.99122807017544 | 15 | 1710 | 196963255-196963269 |
| 69 | ASPM | 1 | 0.99913743530765 | 9 | 10434 | 197063309-197063310, 197115496-197115502 |
| 70 | CACNA1S | 1 | 0.9928850942725 | 40 | 5622 | 201009382-201009397, 201022698-201022715, 201038651-201038654, 201081387, 201081390 |
| 71 | LAMB3 | 1 | 0.99829497016198 | 6 | 3519 | 209790796, 209790799, 209800765, 209800769, 209800890-209800891 |
| 72 | IRF6 | 1 | 0.9985754985755 | 2 | 1404 | 209961862, 209969820 |
| 73 | USH2A | 1 | 0.99923121276187 | 12 | 15609 | 215823937, 215823943, 215916553-215916558, 216496932-216496935 |
| 74 | PSEN2 | 1 | 0.9985152190052 | 2 | 1347 | 227071480-227071481 |
| 75 | ADCK3 | 1 | 0.99485596707819 | 10 | 1944 | 227152804-227152810, 227153379, 227153431, 227171873 |
| 76 | GJC2 | 1 | 0.15984848484848 | 1109 | 1320 | 228345460-228345463, 228345484-228345506, 228345523-228345696, 228345714-228345878, 228345891-228345898, 228345909-228345956, 228345962-228346194, 228346208-228346269, 228346281-228346551, 228346573-228346693 |
| 77 | ACTA1 | 1 | 0.85802469135802 | 161 | 1134 | 229567492-229567496, 229567793-229567797, 229567849-229567881, 229567892-229567932, 229568017-229568027, 229568093-229568125, 229568162-229568170, 229568332-229568346, 229568455-229568463 |
| 78 | AGT | 1 | 0.98765432098765 | 18 | 1458 | 230845781-230845784, 230845788, 230845988-230846000 |
| 79 | LYST | 1 | 0.9969314395932 | 35 | 11406 | 235896819-235896821, 235896970, 235897165-235897173, 235944279, 235950500-235950513, 235969206-235969212 |
| 80 | ACTN2 | 1 | 0.94525139664804 | 147 | 2685 | 236849974-236850099, 236907981-236907982, 236917289, 236917302-236917303, 236917348-236917354, 236924415-236924423 |
| 81 | MTR | 1 | 0.99973670352817 | 1 | 3798 | 237013802 |
| 82 | RYR2 | 1 | 0.99214975845411 | 117 | 14904 | 237205838-237205845, 237205862-237205869, 237656279-237656284, 237656291-237656311, 237666687, 237796906, 237821244-237821285, 237821293-237821322 |
| 83 | FH | 1 | 0.99412915851272 | 9 | 1533 | 241661136-241661138, 241661156, 241663849, 241672049-241672052 |
| 84 | NLRP3 | 1 | 0.9926068788171 | 23 | 3111 | 247582289-247582304, 247587704, 247588036-247588037, 247588043, 247588053-247588055 |
| 85 | NET1 | 10 | 0.9927414852038 | 13 | 1791 | 5454669-5454675, 5454679-5454684 |
| 86 | GATA3 | 10 | 0.96928838951311 | 41 | 1335 | 8097641-8097647, 8097732-8097763, 8100745, 8100748 |
| 87 | OPTN | 10 | 0.99942329873126 | 1 | 1734 | 13174098 |
| 88 | PHYH | 10 | 0.95575221238938 | 45 | 1017 | 13330452, 13330455, 13341974-13341995, 13342022-13342042 |
| 89 | DCLRE1C | 10 | 0.999518999519 | 1 | 2079 | 14970144 |
| 90 | CUBN | 10 | 0.99558498896247 | 48 | 10872 | 16882332, 16960700, 16960709, 16960712, 17026107-17026113, 17085866-17085888, 17085925-17085938 |
| 91 | PTF1A | 10 | 0.27862208713273 | 712 | 987 | 23481460-23482164, 23482170-23482176 |
| 92 | PDSS1 | 10 | 0.90464743589744 | 119 | 1248 | 26986641-26986710, 26986716-26986764 |
| 93 | RET | 10 | 0.96502242152466 | 117 | 3345 | 43572707-43572779, 43600564-43600603, 43606878, 43606883-43606884, 43615084 |
| 94 | ERCC6 | 10 | 0.99576082106203 | 19 | 4482 | 50681017, 50740816-50740833 |
| 95 | CHAT | 10 | 0.89141076991544 | 244 | 2247 | 50822236-50822246, 50822272-50822504 |
| 96 | PCDH15 | 10 | 0.99643402954661 | 21 | 5889 | 55587192-55587195, 55587205, 55587209, 55626439, 56128978-56128991 |
| 97 | EGR2 | 10 | 0.93361285814116 | 95 | 1431 | 64573080, 64573102, 64573117, 64573120, 64573325, 64573329, 64573334-64573344, 64573467-64573504, 64573513-64573520, 64573529-64573535, 64573558-64573582 |
| 98 | NODAL | 10 | 0.99712643678161 | 3 | 1044 | 72201328-72201330 |
| 99 | PRF1 | 10 | 0.98561151079137 | 24 | 1668 | 72358258-72358263, 72358338-72358344, 72358474-72358484 |
| 100 | PCBD1 | 10 | 0.99047619047619 | 3 | 315 | 72648288-72648290 |
| 101 | CDH23 | 10 | 0.98438743038982 | 157 | 10056 | 73375319-73375327, 73464782-73464785, 73464803-73464808, 73464819, 73490302-73490308, 73501554-73501556, 73501604-73501612, 73537472-73537518, 73544790, 73550073-73550081, 73550103-73550126, 73563020-73563027, 73565731-73565741, 73565938-73565946, 73569657, 73574831-73574833, 73574838, 73574845-73574848 |
| 102 | PSAP | 10 | 0.99873015873016 | 2 | 1575 | 73587858, 73594176 |
| 103 | VCL | 10 | 0.9503671071953 | 169 | 3405 | 75757968-75757996, 75758007-75758113, 75849029, 75854071-75854099, 75854115-75854116, 75854121 |
| 104 | LDB3 | 10 | 0.95192307692308 | 105 | 2184 | 88466308-88466313, 88476084-88476093, 88476162-88476196, 88476229-88476234, 88476241-88476259, 88476264-88476270, 88476282-88476302, 88476360 |
| 105 | BMPR1A | 10 | 0.99562226391495 | 7 | 1599 | 88683143-88683149 |
| 106 | GLUD1 | 10 | 0.8479427549195 | 255 | 1677 | 88854163-88854170, 88854174-88854175, 88854178, 88854209-88854219, 88854239-88854262, 88854294-88854338, 88854348-88854390, 88854399-88854427, 88854435-88854526 |
| 107 | LIPA | 10 | 0.99166666666667 | 10 | 1200 | 90974618-90974620, 91007354-91007360 |
| 108 | ANKRD1 | 10 | 0.99791666666667 | 2 | 960 | 92675628-92675629 |
| 109 | PDE6C | 10 | 0.99961195188203 | 1 | 2577 | 95372703 |
| 110 | ZFYVE27 | 10 | 0.99514563106796 | 6 | 1236 | 99512911-99512913, 99518996-99518998 |
| 111 | HPS1 | 10 | 0.98812915479582 | 25 | 2106 | 100177366-100177384, 100177950, 100183561-100183563, 100186994, 100190946 |
| 112 | COX15 | 10 | 0.99432278994323 | 7 | 1233 | 101491751-101491757 |
| 113 | PAX2 | 10 | 0.97998460354119 | 26 | 1299 | 102587323-102587329, 102587403-102587421 |
| 114 | C10orf2 | 10 | 0.99951338199513 | 1 | 2055 | 102748068 |
| 115 | FBXW4 | 10 | 0.93462469733656 | 81 | 1239 | 103371414-103371415, 103436141-103436150, 103454185, 103454215-103454246, 103454310-103454323, 103454329-103454350 |
| 116 | HPS6 | 10 | 0.71520618556701 | 663 | 2328 | 103825232-103825526, 103825568-103825571, 103825575-103825583, 103825593-103825646, 103825652, 103825669-103825825, 103825841-103825868, 103826023-103826050, 103826127-103826141, 103826174-103826185, 103826217-103826254, 103826290, 103826298-103826310, 103826401-103826403, 103827446-103827449, 103827452 |
| 117 | SUFU | 10 | 0.89347079037801 | 155 | 1455 | 104263918-104264047, 104264055-104264079 |
| 118 | CYP17A1 | 10 | 0.99934512115259 | 1 | 1527 | 104590634 |
| 119 | COL17A1 | 10 | 0.99888740542946 | 5 | 4494 | 105793823-105793826, 105798246 |
| 120 | SHOC2 | 10 | 0.99942824471126 | 1 | 1749 | 112769073 |
| 121 | HABP2 | 10 | 0.99405822935235 | 10 | 1683 | 115341846-115341853, 115341857, 115341860 |
| 122 | EMX2 | 10 | 0.82608695652174 | 132 | 759 | 119302790-119302806, 119302833-119302865, 119302876-119302893, 119302926-119302960, 119302993-119303009, 119303015-119303018, 119303109-119303116 |
| 123 | BAG3 | 10 | 0.89525462962963 | 181 | 1728 | 121411188-121411367, 121436212 |
| 124 | HTRA1 | 10 | 0.72972972972973 | 390 | 1443 | 124221169-124221517, 124221528-124221532, 124221558-124221563, 124221605-124221627, 124266243-124266249 |
| 125 | ACADSB | 10 | 0.99076212471132 | 12 | 1299 | 124768576-124768587 |
| 126 | UROS | 10 | 0.99874686716792 | 1 | 798 | 127477544 |
| 127 | HRAS | 11 | 0.97368421052632 | 15 | 570 | 534212-534226 |
| 128 | TALDO1 | 11 | 0.91715976331361 | 84 | 1014 | 747482-747495, 747520-747563, 747575-747578, 763344-763347, 763396, 763404-763405, 763430-763440, 763448-763449, 763512-763513 |
| 129 | SLC25A22 | 11 | 0.81995884773663 | 175 | 972 | 791929-791930, 792603-792694, 792712-792724, 792870-792909, 792932-792934, 794784-794800, 794806-794809, 794884-794887 |
| 130 | PNPLA2 | 11 | 0.78481848184818 | 326 | 1515 | 819719-819905, 823586-823587, 823728-823759, 823787-823794, 823802, 824025-824038, 824095-824120, 824375-824420, 824780-824789 |
| 131 | CTSD | 11 | 0.85068603712672 | 185 | 1239 | 1774747, 1775033-1775034, 1775098-1775106, 1775224-1775225, 1775234-1775242, 1775252-1775297, 1775331-1775345, 1775351-1775368, 1778608-1778614, 1780202-1780208, 1782582, 1785022-1785089 |
| 132 | TNNI2 | 11 | 0.85063752276867 | 82 | 549 | 1861463-1861468, 1861633-1861634, 1861664-1861667, 1861671-1861673, 1861758-1861763, 1861783-1861795, 1861802-1861806, 1861812-1861819, 1861864, 1862049-1862062, 1862321, 1862332-1862336, 1862340-1862346, 1862360-1862364, 1862402, 1862406 |
| 133 | TNNT3 | 11 | 0.97812097812098 | 17 | 777 | 1946331-1946346, 1955224 |
| 134 | H19 | 11 | 0.91316526610644 | 93 | 1071 | 2017784, 2017792-2017793, 2017799-2017805, 2017816-2017832, 2017864-2017876, 2017916-2017921, 2018059-2018100, 2018123, 2018297-2018299, 2018440 |
| 135 | IGF2 | 11 | 0.74824191279887 | 179 | 711 | 2154333-2154341, 2154349-2154353, 2154365, 2154378-2154379, 2161365-2161526 |
| 136 | TH | 11 | 0.89396825396825 | 167 | 1575 | 2187710-2187715, 2187753-2187761, 2187771-2187779, 2187863-2187864, 2187960-2187998, 2188120-2188127, 2191013-2191038, 2191926-2191962, 2191970-2192000 |
| 137 | KCNQ1 | 11 | 0.82373215164943 | 358 | 2031 | 2466329-2466580, 2466590-2466659, 2466669-2466684, 2466697-2466714, 2608800, 2608804 |
| 138 | CDKN1C | 11 | 0.22712933753943 | 735 | 951 | 2905275-2905279, 2905283, 2905289-2905290, 2905294, 2905310-2905312, 2905900-2906480, 2906487-2906528, 2906540-2906542, 2906556-2906597, 2906611-2906641, 2906684-2906690, 2906703-2906719 |
| 139 | SMPD1 | 11 | 0.96044303797468 | 75 | 1896 | 6411934-6411939, 6411955-6411965, 6412659-6412661, 6412742-6412768, 6412780-6412784, 6412869-6412871, 6412977, 6412982-6412986, 6413003-6413012, 6413096, 6413222-6413224 |
| 140 | TPP1 | 11 | 0.99822695035461 | 3 | 1692 | 6637678, 6638369, 6638547 |
| 141 | SBF2 | 11 | 0.98936936936937 | 59 | 5550 | 9838421-9838423, 9838519, 10315562-10315616 |
| 142 | KCNJ11 | 11 | 0.99914748508099 | 1 | 1173 | 17408527 |
| 143 | ABCC8 | 11 | 0.99325747998314 | 32 | 4746 | 17498284-17498295, 17498297, 17498305-17498323 |
| 144 | USH1C | 11 | 0.92666666666667 | 198 | 2700 | 17531089-17531226, 17531236-17531242, 17531288-17531340 |
| 145 | LDHA | 11 | 0.998998998999 | 1 | 999 | 18424494 |
| 146 | ANO5 | 11 | 0.98760029175784 | 34 | 2742 | 22276961-22276964, 22276987-22277016 |
| 147 | FANCF | 11 | 0.95644444444444 | 49 | 1125 | 22646833-22646857, 22647245-22647268 |
| 148 | PAX6 | 11 | 0.99290780141844 | 9 | 1269 | 31811482-31811487, 31824300-31824302 |
| 149 | WT1 | 11 | 0.74967824967825 | 389 | 1554 | 32456317, 32456321-32456326, 32456330, 32456335-32456344, 32456437-32456440, 32456479-32456482, 32456498-32456538, 32456544-32456560, 32456587-32456891 |
| 150 | ALX4 | 11 | 0.89563106796117 | 129 | 1236 | 44331147-44331184, 44331192-44331232, 44331254-44331274, 44331287-44331310, 44331319-44331321, 44331327-44331328 |
| 151 | SLC35C1 | 11 | 0.86837121212121 | 139 | 1056 | 45827436-45827441, 45827477-45827478, 45827630-45827674, 45827688-45827706, 45827789-45827848, 45827854-45827860 |
| 152 | PEX16 | 11 | 0.95389048991354 | 48 | 1041 | 45937372-45937387, 45939270-45939301 |
| 153 | DDB2 | 11 | 0.99766355140187 | 3 | 1284 | 47236783-47236785 |
| 154 | MYBPC3 | 11 | 0.99764705882353 | 9 | 3825 | 47371434-47371437, 47371463-47371467 |
| 155 | SLC39A13 | 11 | 0.97311827956989 | 30 | 1116 | 47431726-47431731, 47435022-47435024, 47435029-47435030, 47435035-47435053 |
| 156 | RAPSN | 11 | 0.96125907990315 | 48 | 1239 | 47460397-47460400, 47460405-47460406, 47460416-47460420, 47463217-47463224, 47463375-47463382, 47463405-47463413, 47463418, 47463432-47463438, 47469390-47469393 |
| 157 | SERPING1 | 11 | 0.96606786427146 | 51 | 1503 | 57365744-57365794 |
| 158 | GIF | 11 | 0.99681020733652 | 4 | 1254 | 59599162-59599163, 59599166-59599167 |
| 159 | BEST1 | 11 | 0.9806598407281 | 34 | 1758 | 61719310-61719311, 61723229, 61723271, 61723275, 61723343, 61723359-61723361, 61723390-61723397, 61725741-61725757 |
| 160 | ROM1 | 11 | 0.94507575757576 | 58 | 1056 | 62380758-62380766, 62380771-62380782, 62380828-62380840, 62381090-62381112, 62381223 |
| 161 | BSCL2 | 11 | 0.99856011519078 | 2 | 1389 | 62457946-62457947 |
| 162 | SLC22A12 | 11 | 0.94223826714801 | 96 | 1662 | 64359165-64359177, 64359306-64359314, 64360329-64360332, 64367165, 64367168, 64367245-64367311, 64367322 |
| 163 | PYGM | 11 | 0.99565045472519 | 11 | 2529 | 64514786, 64521035-64521043, 64521124 |
| 164 | MEN1 | 11 | 0.96753246753247 | 60 | 1848 | 64572248-64572256, 64572567-64572573, 64577170, 64577174, 64577538-64577579 |
| 165 | RNASEH2C | 11 | 0.91919191919192 | 40 | 495 | 65488103-65488113, 65488118-65488123, 65488128, 65488164-65488168, 65488179-65488183, 65488192-65488194, 65488204-65488212 |
| 166 | EFEMP2 | 11 | 0.99924924924925 | 1 | 1332 | 65635434 |
| 167 | CST6 | 11 | 0.91333333333333 | 39 | 450 | 65779584, 65779597, 65779602-65779604, 65780297-65780307, 65780347-65780354, 65780407-65780421 |
| 168 | BBS1 | 11 | 0.99494949494949 | 9 | 1782 | 66281971-66281975, 66299433-66299436 |
| 169 | SPTBN2 | 11 | 0.99344765091315 | 47 | 7173 | 66453472-66453473, 66453478-66453480, 66453485, 66453490-66453491, 66453497, 66453500, 66455040-66455044, 66455678, 66457632, 66460720-66460726, 66461294, 66463760, 66468005, 66472221, 66472522, 66472525, 66472592-66472593, 66472622-66472631, 66472641, 66473193, 66475187, 66475204-66475205 |
| 170 | PC | 11 | 0.98445009895392 | 55 | 3537 | 66618344-66618345, 66618349, 66618354-66618355, 66618359, 66618368, 66618372-66618373, 66618377-66618379, 66618569, 66620062, 66620068-66620075, 66633677, 66633684-66633687, 66633691, 66633695-66633700, 66633709, 66633713-66633723, 66633765-66633771, 66639212-66639213 |
| 171 | AIP | 11 | 0.93856998992951 | 61 | 993 | 67257527-67257535, 67257541-67257548, 67257787-67257826, 67257928, 67258293, 67258297-67258298 |
| 172 | NDUFV1 | 11 | 0.98494623655914 | 21 | 1395 | 67379909-67379929 |
| 173 | NDUFS8 | 11 | 0.94470774091627 | 35 | 633 | 67799795-67799799, 67803749-67803755, 67803929-67803945, 67803954-67803959 |
| 174 | TCIRG1 | 11 | 0.94464500601685 | 138 | 2493 | 67810261-67810286, 67810932-67810959, 67811038-67811042, 67811320, 67811325-67811326, 67811334-67811358, 67811789, 67816555-67816559, 67816565, 67816570-67816575, 67816581, 67816673, 67817171-67817206 |
| 175 | LRP5 | 11 | 0.96637788778878 | 163 | 4848 | 68080183-68080273, 68131215, 68131219, 68133051-68133067, 68153793-68153807, 68154166, 68154171, 68204447, 68206053-68206057, 68206096, 68207298-68207301, 68207367-68207384, 68216334-68216340 |
| 176 | CPT1A | 11 | 0.99526270456503 | 11 | 2322 | 68564325-68564328, 68571482-68571488 |
| 177 | IGHMBP2 | 11 | 0.99128101945003 | 26 | 2982 | 68671466-68671481, 68704383-68704386, 68704530-68704535 |
| 178 | DHCR7 | 11 | 0.94397759103641 | 80 | 1428 | 71146452-71146461, 71146484-71146503, 71146508, 71146517-71146520, 71146566-71146572, 71146574-71146577, 71146581-71146584, 71146594-71146601, 71146714-71146722, 71146830-71146842 |
| 179 | MYO7A | 11 | 0.9923285198556 | 51 | 6648 | 76874032-76874034, 76890868-76890905, 76893193-76893200, 76914107, 76914187 |
| 180 | FZD4 | 11 | 0.98884758364312 | 18 | 1614 | 86666046-86666048, 86666067-86666071, 86666089-86666090, 86666095-86666097, 86666099-86666103 |
| 181 | MTMR2 | 11 | 0.99016563146998 | 19 | 1932 | 95591780, 95657095-95657108, 95657111-95657114 |
| 182 | TRPC6 | 11 | 0.9964234620887 | 10 | 2796 | 101454166-101454175 |
| 183 | DYNC2H1 | 11 | 0.9903437620703 | 125 | 12945 | 102991483-102991486, 102991676, 102991725-102991726, 103006345, 103006351, 103006658, 103029521-103029529, 103029535, 103029538, 103043816-103043846, 103044022-103044024, 103057045-103057066, 103062246-103062280, 103062348, 103070780, 103106411-103106418, 103126154, 103128412, 103158279 |
| 184 | ACAT1 | 11 | 0.9696261682243 | 39 | 1284 | 107992343-107992381 |
| 185 | ATM | 11 | 0.99520226801875 | 44 | 9171 | 108098600-108098604, 108114680, 108126999-108127023, 108188185-108188187, 108196207-108196215, 108202244 |
| 186 | RDX | 11 | 0.99828767123288 | 3 | 1752 | 110126053-110126055 |
| 187 | ALG9 | 11 | 0.95642701525054 | 80 | 1836 | 111742106-111742130, 111742136-111742145, 111742147-111742178, 111742187-111742199 |
| 188 | DLAT | 11 | 0.99948559670782 | 1 | 1944 | 111909982 |
| 189 | APOA1 | 11 | 0.97388059701493 | 21 | 804 | 116706732-116706739, 116706791, 116706795-116706806 |
| 190 | SCN4B | 11 | 0.99854439592431 | 1 | 687 | 118023355 |
| 191 | HMBS | 11 | 0.99723756906077 | 3 | 1086 | 118962228-118962230 |
| 192 | DPAGT1 | 11 | 0.98451507742461 | 19 | 1227 | 118972308, 118972312, 118972320-118972336 |
| 193 | ROBO3 | 11 | 0.96707522230233 | 137 | 4161 | 124735478-124735481, 124738863-124738908, 124738920-124738945, 124745976-124745980, 124746177-124746181, 124746187-124746193, 124746251-124746252, 124746265-124746269, 124746291, 124746298-124746302, 124746306-124746308, 124746313-124746314, 124748613, 124750422-124750446 |
| 194 | WNK1 | 12 | 0.9992337164751 | 1 | 1305 | 978105 |
| 195 | WNK1 | 12 | 0.95691705133585 | 308 | 7149 | 862732-862751, 862787-862789, 862796-862822, 862844-862877, 862883-862905, 862922-862950, 863119-863177, 863189-863211, 863241-863279, 863291-863299, 994156, 994348-994358, 994411-994417, 994793, 994801-994814, 1017031-1017034, 1017087-1017090 |
| 196 | CACNA2D4 | 12 | 0.98359695371998 | 56 | 3414 | 1902905, 1906624-1906652, 1909566, 1994187-1994193, 2027522-2027539 |
| 197 | CACNA1C | 12 | 0.99436061575979 | 37 | 6561 | 2787013-2787015, 2788728, 2797712-2797720, 2797843-2797848, 2797889-2797896, 2800350-2800359 |
| 198 | VWF | 12 | 0.98199478796494 | 152 | 8442 | 6058303-6058309, 6125328-6125344, 6131926-6131932, 6131970-6131982, 6132003-6132033, 6166111-6166140, 6166165-6166181, 6166219-6166238, 6172172-6172177, 6172185, 6172190-6172192 |
| 199 | TNFRSF1A | 12 | 0.94298245614035 | 78 | 1368 | 6438485-6438524, 6438602-6438616, 6438767-6438788, 6439060 |
| 200 | SCNN1A | 12 | 0.9702789208962 | 65 | 2187 | 6457373, 6457392-6457396, 6457407, 6472616-6472622, 6472688-6472710, 6472721-6472725, 6472750-6472772 |
| 201 | TPI1 | 12 | 0.94533333333333 | 41 | 750 | 6976731-6976746, 6976787-6976789, 6976814-6976835 |
| 202 | ATN1 | 12 | 0.92387349566191 | 272 | 3573 | 7045900-7045933, 7046096-7046097, 7046102-7046107, 7046219-7046222, 7046327-7046329, 7046332-7046333, 7046340-7046345, 7046356-7046364, 7046371-7046388, 7046393-7046399, 7046405-7046441, 7046506-7046509, 7046519-7046533, 7046552-7046562, 7046577-7046642, 7046672-7046684, 7046716-7046724, 7050585, 7050615-7050639 |
| 203 | PEX5 | 12 | 0.9957805907173 | 8 | 1896 | 7343034-7343040, 7361234 |
| 204 | AICDA | 12 | 0.98659966499162 | 8 | 597 | 8756880-8756887 |
| 205 | CDKN1B | 12 | 0.99832495812395 | 1 | 597 | 12871075 |
| 206 | GYS2 | 12 | 0.99763257575758 | 5 | 2112 | 21712086-21712089, 21712092 |
| 207 | ABCC9 | 12 | 0.99935483870968 | 3 | 4650 | 21981904, 21998622, 22063817 |
| 208 | KRAS | 12 | 0.99473684210526 | 3 | 570 | 25368402-25368404 |
| 209 | DNM1L | 12 | 0.99185888738128 | 18 | 2211 | 32832342-32832347, 32832388-32832399 |
| 210 | PKP2 | 12 | 0.97096260938743 | 73 | 2514 | 33049567-33049590, 33049602-33049606, 33049610-33049613, 33049626-33049665 |
| 211 | KIF21A | 12 | 0.99899719213799 | 5 | 4986 | 39726796, 39760289-39760292 |
| 212 | LRRK2 | 12 | 0.99841772151899 | 12 | 7584 | 40687387, 40753214-40753221, 40761494-40761496 |
| 213 | VDR | 12 | 0.9696261682243 | 39 | 1284 | 48238706-48238710, 48238719, 48251357-48251389 |
| 214 | COL2A1 | 12 | 0.97267025089606 | 122 | 4464 | 48369786, 48373315-48373327, 48376329-48376366, 48377497-48377519, 48377872-48377876, 48380224, 48398052-48398092 |
| 215 | MLL2 | 12 | 0.95503791982665 | 747 | 16614 | 49420426-49420432, 49420438, 49420442-49420443, 49420601-49420618, 49420944, 49422934, 49422937, 49424147, 49424465-49424478, 49425062-49425065, 49425137-49425138, 49425421, 49425426, 49426052, 49426508, 49426511, 49426515-49426517, 49426616-49426626, 49426688-49426689, 49426733-49426734, 49426746-49426753, 49426767-49426805, 49426833-49426839, 49426864-49426868, 49426880-49426886, 49426902-49426949, 49426956-49427005, 49427012-49427103, 49427130-49427151, 49427153-49427178, 49427187-49427192, 49427236-49427295, 49427307-49427350, 49427563-49427566, 49427617-49427685, 49430936-49430939, 49431295-49431347, 49431359-49431362, 49431592-49431593, 49431685-49431688, 49431746-49431758, 49431767-49431768, 49431802-49431805, 49431824-49431830, 49431842, 49431849-49431859, 49431869-49431873, 49431887-49431891, 49431895, 49432583-49432585, 49433765-49433766, 49434051-49434082, 49434166-49434168, 49434515-49434522, 49434528-49434530, 49434572, 49434922-49434928, 49435443, 49438290, 49438296-49438302, 49444509 |
| 216 | DHH | 12 | 0.82283795130143 | 211 | 1191 | 49483646-49483685, 49483696-49483725, 49483736-49483773, 49483836-49483864, 49483876-49483880, 49483898-49483908, 49483953-49484000, 49484128-49484130, 49484221, 49484963, 49484966, 49488116-49488119 |
| 217 | TUBA1A | 12 | 0.98464912280702 | 7 | 456 | 49522308-49522314 |
| 218 | AQP2 | 12 | 0.99019607843137 | 8 | 816 | 50349356-50349363 |
| 219 | ACVRL1 | 12 | 0.99669312169312 | 5 | 1512 | 52307386-52307387, 52312883-52312884, 52312890 |
| 220 | KRT81 | 12 | 0.95520421607378 | 68 | 1518 | 52680207-52680226, 52684021-52684029, 52685061-52685065, 52685164-52685196, 52685213 |
| 221 | KRT86 | 12 | 0.96851471594798 | 46 | 1461 | 52695735-52695743, 52695763-52695776, 52695783-52695785, 52695880-52695882, 52696925-52696934, 52699545-52699551 |
| 222 | KRT83 | 12 | 0.9804318488529 | 29 | 1482 | 52714920-52714925, 52715018-52715040 |
| 223 | KRT6B | 12 | 0.95280235988201 | 80 | 1695 | 52840976, 52841179, 52841338-52841344, 52841659-52841665, 52844243, 52844246, 52844265, 52845528-52845534, 52845598-52845604, 52845662-52845668, 52845713-52845719, 52845797-52845829 |
| 224 | KRT6C | 12 | 0.93097345132743 | 117 | 1695 | 52865915-52865928, 52866021-52866041, 52866052-52866054, 52867101-52867108, 52867187-52867193, 52867257-52867263, 52867321-52867345, 52867457-52867488 |
| 225 | KRT6A | 12 | 0.98289085545723 | 29 | 1695 | 52881702, 52886553-52886559, 52886638-52886644, 52886708-52886714, 52886772-52886778 |
| 226 | KRT5 | 12 | 0.94359842075578 | 100 | 1773 | 52908771-52908780, 52908792-52908795, 52908806-52908854, 52908866-52908882, 52908915-52908927, 52908936, 52908942-52908947 |
| 227 | KRT2 | 12 | 0.99791666666667 | 4 | 1920 | 53045840-53045843 |
| 228 | KRT1 | 12 | 0.99638242894057 | 7 | 1935 | 53070152-53070155, 53070159-53070160, 53070175 |
| 229 | KRT4 | 12 | 0.99271708683473 | 13 | 1785 | 53201525-53201532, 53201542-53201545, 53201554 |
| 230 | ITGA7 | 12 | 0.99503794512551 | 17 | 3426 | 56081779-56081783, 56086700-56086703, 56088567-56088573, 56090125 |
| 231 | RDH5 | 12 | 0.9791013584117 | 20 | 957 | 56115157-56115160, 56115585-56115593, 56115600-56115605, 56117719 |
| 232 | KIF5A | 12 | 0.98031623104227 | 61 | 3099 | 57944057-57944106, 57944160-57944170 |
| 233 | CYP27B1 | 12 | 0.99410609037328 | 9 | 1527 | 58159806-58159807, 58159811, 58159889-58159894 |
| 234 | TSFM | 12 | 0.96728016359918 | 32 | 978 | 58176598-58176629 |
| 235 | GNS | 12 | 0.9746835443038 | 42 | 1659 | 65141666-65141672, 65141676, 65152904-65152928, 65152935-65152938, 65152963, 65153019-65153022 |
| 236 | LEMD3 | 12 | 0.94773391812865 | 143 | 2736 | 65563388-65563391, 65563611-65563641, 65563739-65563763, 65563787-65563814, 65563838-65563844, 65563857-65563904 |
| 237 | BBS10 | 12 | 0.99953959484346 | 1 | 2172 | 76742057 |
| 238 | CEP290 | 12 | 0.99045698924731 | 71 | 7440 | 88472947-88472961, 88472975-88472985, 88472996-88472997, 88505475-88505477, 88505602-88505604, 88519023-88519024, 88519065-88519066, 88519134-88519140, 88519144-88519146, 88522783-88522804, 88532968 |
| 239 | HAL | 12 | 0.98733535967579 | 25 | 1974 | 96379695, 96389648-96389671 |
| 240 | TMPO | 12 | 0.96258992805755 | 78 | 2085 | 98909793-98909831, 98909851-98909854, 98909882-98909916 |
| 241 | SLC17A8 | 12 | 0.99322033898305 | 12 | 1770 | 100774562-100774566, 100774579-100774585 |
| 242 | GNPTAB | 12 | 0.99602227525855 | 15 | 3771 | 102224337-102224351 |
| 243 | IGF1 | 12 | 0.99829931972789 | 1 | 588 | 102874144 |
| 244 | UNG | 12 | 0.97027600849257 | 28 | 942 | 109535485-109535500, 109535545-109535548, 109535554-109535561 |
| 245 | MMAB | 12 | 0.97875166002656 | 16 | 753 | 109998854-109998862, 110011229-110011235 |
| 246 | MVK | 12 | 0.99664147774979 | 4 | 1191 | 110034235, 110034238-110034240 |
| 247 | TRPV4 | 12 | 0.99655963302752 | 9 | 2616 | 110230596, 110236711-110236717, 110238442 |
| 248 | ATP2A2 | 12 | 0.98178331735379 | 57 | 3129 | 110719605, 110719608-110719611, 110719617-110719624, 110719633-110719656, 110719662-110719675, 110778526-110778531 |
| 249 | MYL2 | 12 | 0.99800399201597 | 1 | 501 | 111348888 |
| 250 | ATXN2 | 12 | 0.82420091324201 | 693 | 3942 | 111895064-111895069, 111908484, 112036588-112037272, 112037318 |
| 251 | PTPN11 | 12 | 0.99214365881033 | 14 | 1782 | 112856916-112856929 |
| 252 | TBX5 | 12 | 0.99486191393706 | 8 | 1557 | 114793792, 114793797-114793801, 114841682-114841683 |
| 253 | TBX3 | 12 | 0.91666666666667 | 186 | 2232 | 115110043-115110047, 115111976-115112080, 115112102-115112107, 115112118-115112124, 115112195-115112228, 115112245, 115112257, 115112267-115112271, 115112326-115112329, 115112395-115112398, 115112401, 115112405-115112408, 115120850-115120858 |
| 254 | ACADS | 12 | 0.99838579499596 | 2 | 1239 | 121175788, 121176676 |
| 255 | HNF1A | 12 | 0.97257383966245 | 52 | 1896 | 121416591-121416592, 121416633, 121416699, 121434185-121434188, 121434349-121434373, 121435344, 121435358-121435361, 121435365-121435371, 121437409-121437415 |
| 256 | EIF2B1 | 12 | 0.99891067538126 | 1 | 918 | 124111036 |
| 257 | ATP6V0A2 | 12 | 0.99766627771295 | 6 | 2571 | 124197128-124197129, 124197149-124197150, 124242474-124242475 |
| 258 | PUS1 | 12 | 0.89485981308411 | 135 | 1284 | 132414268-132414300, 132414306-132414319, 132414334-132414341, 132414452-132414481, 132414495-132414533, 132414617-132414621, 132425975-132425979, 132426089 |
| 259 | SACS | 13 | 0.98908296943231 | 150 | 13740 | 23908084, 23949260-23949408 |
| 260 | PDX1 | 13 | 0.77816901408451 | 189 | 852 | 28494287-28494321, 28494407, 28494414-28494416, 28494440-28494444, 28494511-28494514, 28494568-28494580, 28494587-28494590, 28494658-28494661, 28498393-28498397, 28498404-28498417, 28498425-28498426, 28498431, 28498644-28498652, 28498672-28498718, 28498755-28498794, 28498814-28498815 |
| 261 | B3GALTL | 13 | 0.95323981295925 | 70 | 1497 | 31774222-31774291 |
| 262 | BRCA2 | 13 | 0.99610022423711 | 40 | 10257 | 32903629, 32929387-32929425 |
| 263 | SPG20 | 13 | 0.99850074962519 | 3 | 2001 | 36909449, 36909452, 36909457 |
| 264 | FREM2 | 13 | 0.98958990536278 | 99 | 9510 | 39261564-39261592, 39261613, 39261681, 39261688, 39261707-39261711, 39261715, 39261793, 39261797-39261804, 39261836-39261842, 39261848-39261850, 39261911-39261935, 39261949-39261958, 39262062, 39450257, 39450266, 39450270-39450273 |
| 265 | TNFSF11 | 13 | 0.9811320754717 | 18 | 954 | 43148452-43148456, 43148492-43148503, 43148508 |
| 266 | SUCLA2 | 13 | 0.99353448275862 | 9 | 1392 | 48528398-48528401, 48575343-48575347 |
| 267 | RB1 | 13 | 0.96698959454611 | 92 | 2787 | 48878082-48878088, 48878102-48878138, 48878147-48878182, 49030402, 49051515-49051525 |
| 268 | RNASEH2B | 13 | 0.98935037273695 | 10 | 939 | 51484213-51484222 |
| 269 | ATP7B | 13 | 0.99795361527967 | 9 | 4398 | 52508956, 52508964-52508969, 52518251-52518252 |
| 270 | CLN5 | 13 | 0.99019607843137 | 12 | 1224 | 77566336, 77566339, 77566348-77566350, 77566358-77566364 |
| 271 | EDNRB | 13 | 0.99924755455229 | 1 | 1329 | 78475263 |
| 272 | SLITRK1 | 13 | 0.98852223816356 | 24 | 2091 | 84453780-84453802, 84454039 |
| 273 | ZIC2 | 13 | 0.41400875547217 | 937 | 1599 | 100634319-100634801, 100634825, 100634831-100634833, 100634862-100634902, 100634921-100634945, 100635001-100635040, 100635052-100635098, 100637324-100637328, 100637577-100637582, 100637587, 100637622-100637666, 100637672-100637911 |
| 274 | PCCA | 13 | 0.98491083676269 | 33 | 2187 | 100741439-100741471 |
| 275 | ERCC5 | 13 | 0.9997640953055 | 1 | 4239 | 103519038 |
| 276 | COL4A1 | 13 | 0.98463073852295 | 77 | 5010 | 110804842-110804843, 110814611-110814612, 110814718, 110821993-110821994, 110864259-110864269, 110959316-110959374 |
| 277 | F7 | 13 | 0.94831460674157 | 69 | 1335 | 113765022-113765025, 113765038-113765061, 113765068-113765092, 113765130-113765133, 113770027, 113770031-113770033, 113772961-113772967, 113772971 |
| 278 | F10 | 13 | 0.96591683708248 | 50 | 1467 | 113777175-113777224 |
| 279 | GRK1 | 13 | 0.97635933806147 | 40 | 1692 | 114321945, 114322121-114322122, 114322134-114322141, 114325884-114325885, 114325888, 114325947, 114325951-114325954, 114325960-114325970, 114426074-114426081, 114426088-114426089 |
| 280 | TEP1 | 14 | 0.99099441907661 | 71 | 7884 | 20841508-20841531, 20850445-20850486, 20851418-20851419, 20851436, 20851783, 20853249 |
| 281 | RPGRIP1 | 14 | 0.999740999741 | 1 | 3861 | 21793021 |
| 282 | SLC7A7 | 14 | 0.99088541666667 | 14 | 1536 | 23282109-23282122 |
| 283 | PABPN1 | 14 | 0.61889250814332 | 351 | 921 | 23790679-23791029 |
| 284 | MYH6 | 14 | 0.99931271477663 | 4 | 5820 | 23855263, 23858147, 23863444-23863445 |
| 285 | MYH7 | 14 | 0.99466253443526 | 31 | 5808 | 23887511-23887515, 23894050-23894052, 23894057-23894067, 23894071, 23894223-23894233 |
| 286 | NRL | 14 | 0.68067226890756 | 228 | 714 | 24550454-24550471, 24550536-24550724, 24550750-24550758, 24550763-24550774 |
| 287 | PCK2 | 14 | 0.99895995839834 | 2 | 1923 | 24563641, 24568259 |
| 288 | TINF2 | 14 | 0.99557522123894 | 6 | 1356 | 24711497-24711502 |
| 289 | FOXG1 | 14 | 0.66598639455782 | 491 | 1470 | 29236486-29236969, 29237060, 29237156, 29237164-29237167, 29237202 |
| 290 | COCH | 14 | 0.99939503932244 | 1 | 1653 | 31355496 |
| 291 | CFL2 | 14 | 0.9940119760479 | 3 | 501 | 35183744-35183746 |
| 292 | NKX2-1 | 14 | 0.64179104477612 | 432 | 1206 | 36986510-36986518, 36986524, 36986529, 36986564-36986611, 36986622-36986630, 36986652-36986678, 36986690-36986905, 36986919-36986930, 36986944-36986945, 36987031-36987037, 36987073-36987081, 36987104-36987124, 36988360-36988399, 36989280, 36989287-36989294, 36989300, 36989306-36989325 |
| 293 | PAX9 | 14 | 0.9990253411306 | 1 | 1026 | 37135749 |
| 294 | FANCM | 14 | 0.99788514722629 | 13 | 6147 | 45605373-45605377, 45623992, 45624000, 45654427, 45654449-45654453 |
| 295 | MGAT2 | 14 | 0.98958333333333 | 14 | 1344 | 50088119-50088127, 50088132, 50088143-50088146 |
| 296 | C14orf104 | 14 | 0.76014319809069 | 603 | 2514 | 50100595-50100607, 50100644, 50100712-50100759, 50100768-50100814, 50100821-50100824, 50100830-50100834, 50100854-50100887, 50100913-50100919, 50100929-50101020, 50101034-50101037, 50101044-50101064, 50101081-50101129, 50101136-50101172, 50101179-50101183, 50101213-50101262, 50101344-50101372, 50101378-50101380, 50101388-50101419, 50101453-50101467, 50101526-50101588, 50101676, 50101795-50101837 |
| 297 | L2HGDH | 14 | 0.99425287356322 | 8 | 1392 | 50778813-50778820 |
| 298 | PYGL | 14 | 0.98545597484277 | 37 | 2544 | 51410939-51410958, 51411105-51411121 |
| 299 | GCH1 | 14 | 0.77025232403718 | 173 | 753 | 55326399-55326403, 55326417, 55326420, 55369085-55369090, 55369096-55369102, 55369127-55369137, 55369207-55369300, 55369334-55369381 |
| 300 | SIX6 | 14 | 0.94197031039136 | 43 | 741 | 60976243-60976249, 60976376, 60977828-60977862 |
| 301 | SIX1 | 14 | 0.9719298245614 | 24 | 855 | 61115428-61115431, 61115437-61115438, 61115442, 61115448, 61115451, 61115503-61115507, 61115565, 61115574, 61115583, 61115591-61115597 |
| 302 | SYNE2 | 14 | 0.99835939007914 | 34 | 20724 | 64457771-64457777, 64483273-64483274, 64522809, 64669605-64669606, 64676759, 64692109-64692129 |
| 303 | ZFYVE26 | 14 | 0.99343832020997 | 50 | 7620 | 68215249-68215252, 68229069-68229074, 68233097, 68242687-68242688, 68244316, 68274116-68274127, 68274210-68274229, 68274239-68274241, 68274378 |
| 304 | VSX2 | 14 | 0.9548802946593 | 49 | 1086 | 74706420-74706432, 74706451-74706475, 74706506, 74706513-74706514, 74706601-74706608 |
| 305 | EIF2B2 | 14 | 0.98674242424242 | 14 | 1056 | 75471590-75471603 |
| 306 | MLH3 | 14 | 0.99266391563503 | 32 | 4362 | 75506687-75506718 |
| 307 | FLVCR2 | 14 | 0.99683744465528 | 5 | 1581 | 76045382, 76045510-76045512, 76045570 |
| 308 | TGFB3 | 14 | 0.99677158999193 | 4 | 1239 | 76447019-76447022 |
| 309 | ESRRB | 14 | 0.95743287491814 | 65 | 1527 | 76964641, 76964668-76964672, 76964683-76964731, 76964786-76964795 |
| 310 | POMT2 | 14 | 0.94141145139814 | 132 | 2253 | 77786862-77786900, 77786906-77786991, 77787009-77787015 |
| 311 | GALC | 14 | 0.94120505344995 | 121 | 2058 | 88459314-88459358, 88459384-88459399, 88459404-88459411, 88459421-88459457, 88459463-88459477 |
| 312 | SPATA7 | 14 | 0.99722222222222 | 5 | 1800 | 88899530, 88899547-88899550 |
| 313 | TTC8 | 14 | 0.99547803617571 | 7 | 1548 | 89343667-89343673 |
| 314 | ATXN3 | 14 | 0.95672191528545 | 47 | 1086 | 92537348-92537394 |
| 315 | VRK1 | 14 | 0.99412258606213 | 7 | 1191 | 97304111-97304114, 97304152-97304153, 97322488 |
| 316 | AMN | 14 | 0.55139500734214 | 611 | 1362 | 103390139-103390166, 103395159-103395187, 103395198-103395218, 103395260-103395265, 103395494-103395539, 103395590-103395595, 103395765-103395825, 103396008-103396021, 103396055-103396074, 103396317-103396328, 103396372-103396395, 103396403-103396411, 103396416-103396423, 103396502-103396664, 103396755-103396827, 103396913-103396959, 103396967-103397010 |
| 317 | INF2 | 14 | 0.84453333333333 | 583 | 3750 | 105167729-105167732, 105167880-105167887, 105167892-105167911, 105167931-105167962, 105168006-105168022, 105168027, 105169760-105169764, 105170256-105170257, 105170263, 105170282-105170283, 105172446-105172449, 105173289, 105173295, 105173301, 105173305, 105173310, 105173619-105173648, 105173657-105173664, 105173713-105173793, 105173802-105173808, 105173856-105174187, 105174892-105174897, 105177497-105177512, 105177517, 105179818 |
| 318 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 319 | SNRPN | 15 | 0.99446749654219 | 4 | 723 | 25222089-25222091, 25222964 |
| 320 | OCA2 | 15 | 0.99562971791816 | 11 | 2517 | 28263571-28263577, 28326942-28326945 |
| 321 | TRPM1 | 15 | 0.99709060681629 | 14 | 4812 | 31320562-31320565, 31332375-31332381, 31353662-31353664 |
| 322 | IVD | 15 | 0.99375487900078 | 8 | 1281 | 40710451-40710458 |
| 323 | CHST14 | 15 | 0.79487179487179 | 232 | 1131 | 40763413-40763545, 40763559-40763591, 40763643-40763648, 40763670-40763671, 40763675-40763678, 40763693-40763703, 40763779-40763821 |
| 324 | CAPN3 | 15 | 0.98733660130719 | 31 | 2448 | 42652004-42652034 |
| 325 | CDAN1 | 15 | 0.86129207383279 | 511 | 3684 | 43019898-43019903, 43019926-43019948, 43021006, 43021780-43021784, 43022911, 43026483-43026505, 43028523-43028546, 43028558-43028595, 43028606-43028614, 43028683-43028704, 43028710-43028978, 43029211-43029300 |
| 326 | STRC | 15 | 0.96828078078078 | 169 | 5328 | 43896259-43896261, 43896303-43896312, 43900150-43900156, 43902605, 43902611-43902614, 43903726-43903727, 43905031-43905037, 43905045, 43905052-43905059, 43907736-43907751, 43907802-43907803, 43907807-43907810, 43907874-43907880, 43908044-43908051, 43908070-43908086, 43908093-43908101, 43908186-43908190, 43908275-43908288, 43910188-43910194, 43910436-43910444, 43910866-43910893 |
| 327 | STRC | 15 | 0.99664991624791 | 2 | 597 | 44003188-44003189 |
| 328 | STRC | 15 | 0.95282051282051 | 92 | 1950 | 44007198-44007213, 44007264-44007265, 44007269-44007272, 44007336-44007342, 44007506-44007513, 44007532-44007548, 44007555-44007563, 44007648-44007652, 44007737-44007750, 44009589-44009590, 44009601, 44009650-44009656 |
| 329 | SPG11 | 15 | 0.99918166939444 | 6 | 7332 | 44955721-44955726 |
| 330 | DUOX2 | 15 | 0.97503765870454 | 116 | 4647 | 45398401-45398403, 45398455-45398458, 45401078-45401081, 45401087-45401088, 45403591-45403604, 45403612-45403629, 45403635, 45403644-45403688, 45403760-45403783, 45404009 |
| 331 | GATM | 15 | 0.9622641509434 | 48 | 1272 | 45670604-45670651 |
| 332 | FBN1 | 15 | 0.99744661095636 | 22 | 8616 | 48737585, 48737590-48737597, 48826316-48826319, 48936958-48936966 |
| 333 | CEP152 | 15 | 0.99979859013092 | 1 | 4965 | 49036499 |
| 334 | SCG3 | 15 | 0.99928926794598 | 1 | 1407 | 51975288 |
| 335 | TPM1 | 15 | 0.9906432748538 | 8 | 855 | 63335063, 63336019, 63336023-63336028 |
| 336 | PPIB | 15 | 0.88172043010753 | 77 | 651 | 64455091-64455113, 64455123-64455163, 64455173-64455185 |
| 337 | CLN6 | 15 | 0.9241452991453 | 71 | 936 | 68506711-68506712, 68521840-68521841, 68521856-68521922 |
| 338 | NR2E3 | 15 | 0.97554347826087 | 27 | 1104 | 72103901-72103903, 72103908, 72103917-72103933, 72105814, 72105861-72105865 |
| 339 | HEXA | 15 | 0.99559748427673 | 7 | 1590 | 72668267-72668271, 72668277, 72668288 |
| 340 | HCN4 | 15 | 0.70542635658915 | 1064 | 3612 | 73614851-73614906, 73614928, 73615004-73615027, 73615069-73615072, 73615113-73615167, 73615189-73615231, 73615421-73615440, 73615465-73615471, 73615479-73615520, 73615574-73615649, 73615740, 73615755-73615768, 73615924-73615926, 73615929-73615930, 73615984-73616001, 73616032-73616056, 73616069, 73616073-73616086, 73616094, 73616103-73616107, 73616130-73616183, 73616204-73616207, 73616441-73616451, 73616555-73616556, 73616564-73616594, 73624536, 73660038, 73660048, 73660056-73660060, 73660070-73660611 |
| 341 | PSTPIP1 | 15 | 0.99440447641886 | 7 | 1251 | 77320958-77320964 |
| 342 | RPS17 | 15 | 0.98774509803922 | 5 | 408 | 82823348, 82824441, 82824444-82824445, 82824458 |
| 343 | RPS17 | 15 | 0.98774509803922 | 5 | 408 | 83207691, 83208784, 83208787-83208788, 83208801 |
| 344 | POLG | 15 | 0.97661290322581 | 87 | 3720 | 89864030, 89876791-89876813, 89876826-89876827, 89876835-89876869, 89876912-89876920, 89876930-89876933, 89876938-89876941, 89876952-89876960 |
| 345 | MESP2 | 15 | 0.87604690117253 | 148 | 1194 | 90319723-90319746, 90319773-90319778, 90320021-90320064, 90320080-90320125, 90320131-90320146, 90320150-90320161 |
| 346 | BLM | 15 | 0.99647390691114 | 15 | 4254 | 91303489, 91303496, 91303501, 91303505, 91312738-91312744, 91328191-91328193, 91337432 |
| 347 | VPS33B | 15 | 0.99460625674218 | 10 | 1854 | 91565384-91565393 |
| 348 | IGF1R | 15 | 0.98075048732943 | 79 | 4104 | 99192821-99192826, 99192847-99192904, 99250827, 99250830, 99250833, 99250842, 99251234-99251236, 99251282-99251283, 99473504, 99473515-99473517, 99473522-99473523 |
| 349 | HBZ | 16 | 0.48717948717949 | 220 | 429 | 203891-204011, 204020-204044, 204051-204079, 204087-204095, 204271-204291, 204300-204302, 204325-204335, 204340 |
| 350 | HBM | 16 | 0.70657276995305 | 125 | 426 | 216309-216315, 216321-216362, 216376-216383, 216393-216458, 216609-216610 |
| 351 | HBA2 | 16 | 0.69230769230769 | 132 | 429 | 222918-222955, 222966-223006, 223215-223240, 223285-223311 |
| 352 | GNPTG | 16 | 0.91721132897603 | 76 | 918 | 1401967-1402000, 1402103-1402106, 1402240-1402277 |
| 353 | CLCN7 | 16 | 0.91232423490488 | 212 | 2418 | 1497424-1497426, 1497528-1497540, 1500498-1500534, 1500610-1500616, 1503879-1503881, 1506170, 1509120-1509126, 1524835-1524975 |
| 354 | IGFALS | 16 | 0.92443064182195 | 146 | 1932 | 1840613-1840651, 1840951-1840993, 1841029, 1841102-1841103, 1841232-1841238, 1841293-1841296, 1841538, 1841554, 1841788-1841824, 1842084-1842086, 1842186, 1842296-1842302 |
| 355 | GFER | 16 | 0.58252427184466 | 258 | 618 | 2034220-2034477 |
| 356 | TSC2 | 16 | 0.98064159292035 | 105 | 5424 | 2103387-2103422, 2104382-2104386, 2104391, 2104394, 2106757, 2108756-2108757, 2121527-2121528, 2121845, 2121856-2121866, 2124272, 2124276, 2126563-2126566, 2133696-2133699, 2136317-2136322, 2136329-2136347, 2136356-2136364, 2136869 |
| 357 | PKD1 | 16 | 0.82241325898389 | 2293 | 12912 | 2139818-2139819, 2139824-2139827, 2139875-2139913, 2140675-2140699, 2140708-2140718, 2140766-2140802, 2140912-2140976, 2140982-2141050, 2141063-2141128, 2141138-2141175, 2141424-2141568, 2141824-2141835, 2141842-2141853, 2143978, 2147149, 2147153, 2147159-2147160, 2147199, 2147396-2147399, 2147411-2147417, 2147940-2147975, 2149915-2149922, 2149961-2149968, 2150043-2150072, 2150190-2150206, 2150284, 2153289-2153299, 2153592-2153639, 2153652-2153658, 2153664-2153747, 2153755-2153780, 2153812-2153816, 2153854, 2153864-2153874, 2154542-2154643, 2155323-2155346, 2155366, 2155943-2155952, 2156169-2156181, 2156249-2156258, 2156442-2156462, 2156520-2156526, 2156660-2156673, 2156816-2156836, 2156901-2156907, 2158575-2158581, 2158630-2158644, 2158698-2158704, 2158901, 2158913, 2158932, 2158941, 2158971-2158977, 2159067-2159115, 2159166, 2159169, 2159172, 2159256-2159296, 2159340-2159347, 2159398-2159434, 2159449-2159488, 2159608-2159653, 2159759-2159761, 2160494, 2160718-2160726, 2160884, 2160980-2160981, 2161303-2161328, 2161732-2161747, 2161804-2161805, 2162935, 2162953, 2162959, 2162962, 2164429-2164435, 2164519-2164529, 2164563-2164569, 2164681-2164682, 2164698, 2164703-2164708, 2164713-2164714, 2164755-2164761, 2164803-2164812, 2164878-2164884, 2165388-2165394, 2165564-2165567, 2165993-2166007, 2166044-2166045, 2166098, 2166858-2166874, 2166897-2166917, 2166946-2166970, 2166991-2166995, 2167654-2167673, 2167818-2167822, 2167851-2167890, 2167902-2167906, 2167924-2168038, 2168046-2168072, 2168103-2168147, 2168157-2168243, 2168292-2168294, 2168306-2168429, 2168439-2168463, 2168727-2168751, 2168791-2168797, 2185476-2185690 |
| 358 | ABCA3 | 16 | 0.98044965786901 | 100 | 5115 | 2328409-2328414, 2328421-2328433, 2328444-2328447, 2333187-2333189, 2333194-2333202, 2333208-2333210, 2334951-2334961, 2334976-2334999, 2338065-2338091 |
| 359 | MEFV | 16 | 0.98508098891731 | 35 | 2346 | 3304491-3304507, 3304573-3304576, 3304657, 3306344, 3306358-3306359, 3306384-3306389, 3306422-3306425 |
| 360 | SLX4 | 16 | 0.99000908265213 | 55 | 5505 | 3632604-3632605, 3639273-3639280, 3639511-3639517, 3639591-3639595, 3639845-3639853, 3639860-3639864, 3639874-3639877, 3639939-3639946, 3647836, 3647920-3647924, 3651037 |
| 361 | CREBBP | 16 | 0.91663255560104 | 611 | 7329 | 3777761-3777784, 3778166, 3778177, 3778266-3778268, 3778313, 3778391-3778396, 3778417-3778464, 3778559-3778566, 3778576-3778579, 3778629-3778637, 3778723-3778727, 3778760, 3778764-3778766, 3778770, 3778778-3778790, 3778826-3778928, 3778934-3778957, 3778974-3779020, 3779056-3779058, 3779063-3779064, 3779132-3779226, 3779243-3779249, 3779274-3779309, 3779363-3779377, 3779386-3779389, 3779393, 3779418-3779429, 3779444-3779475, 3779487-3779493, 3779708-3779709, 3900800-3900807, 3929833-3929917 |
| 362 | GLIS2 | 16 | 0.96063492063492 | 62 | 1575 | 4384868, 4386729, 4387102-4387118, 4387161-4387163, 4387357-4387359, 4387365-4387375, 4387386-4387411 |
| 363 | ALG1 | 16 | 0.91182795698925 | 123 | 1395 | 5121876-5121914, 5121989, 5121992, 5128784, 5128854-5128879, 5130968-5130999, 5131034-5131036, 5133751-5133758, 5134776-5134782, 5134878-5134882 |
| 364 | MYH11 | 16 | 0.99478114478114 | 31 | 5940 | 15811098-15811122, 15811128-15811131, 15818145, 15932020 |
| 365 | ABCC6 | 16 | 0.98581560283688 | 64 | 4512 | 16244549, 16248830-16248836, 16276714-16276716, 16291967-16291968, 16313509-16313515, 16315531-16315546, 16317264-16317291 |
| 366 | UMOD | 16 | 0.94071762870515 | 114 | 1923 | 20355366, 20359867-20359874, 20359878, 20359883, 20359887-20359889, 20359977-20360010, 20360040-20360043, 20360092-20360126, 20360139-20360165 |
| 367 | OTOA | 16 | 0.99795321637427 | 7 | 3420 | 21742176-21742182 |
| 368 | SCNN1B | 16 | 0.9739989599584 | 50 | 1923 | 23359977, 23360154-23360186, 23360192, 23391894-23391903, 23391913-23391917 |
| 369 | TUFM | 16 | 0.9327485380117 | 92 | 1368 | 28857388-28857427, 28857539-28857590 |
| 370 | ATP2A1 | 16 | 0.99101796407186 | 27 | 3006 | 28911951-28911956, 28912112-28912119, 28912135-28912147 |
| 371 | PHKG2 | 16 | 0.92219492219492 | 95 | 1221 | 30760142-30760236 |
| 372 | VKORC1 | 16 | 0.97357723577236 | 13 | 492 | 31104730-31104742 |
| 373 | FUS | 16 | 0.98734977862113 | 20 | 1581 | 31195238, 31195273, 31195283-31195293, 31195317-31195321, 31195607, 31195699 |
| 374 | SLC5A2 | 16 | 0.9470034670629 | 107 | 2019 | 31499991-31499993, 31500042-31500072, 31500251-31500264, 31500304-31500309, 31500320-31500325, 31500335-31500350, 31500461-31500491 |
| 375 | PHKB | 16 | 0.99756246191347 | 8 | 3282 | 47533743-47533745, 47533756-47533759, 47683070 |
| 376 | NOD2 | 16 | 0.98078770413064 | 60 | 3123 | 50733443-50733455, 50733460-50733462, 50733466-50733472, 50733755-50733760, 50733859, 50744992-50745002, 50745064-50745066, 50745105-50745108, 50745119, 50745123, 50745474-50745483 |
| 377 | CYLD | 16 | 0.9979035639413 | 6 | 2862 | 50825513, 50826564-50826568 |
| 378 | SALL1 | 16 | 0.98691823899371 | 52 | 3975 | 51175400, 51175642-51175655, 51175658-51175667, 51175670-51175679, 51175691-51175701, 51185077-51185082 |
| 379 | RPGRIP1L | 16 | 0.99924012158055 | 3 | 3948 | 53652998, 53653002, 53671647 |
| 380 | MMP2 | 16 | 0.9505799293999 | 98 | 1983 | 55513407-55513498, 55513507-55513511, 55525742 |
| 381 | BBS2 | 16 | 0.99676823638042 | 7 | 2166 | 56553678-56553684 |
| 382 | SLC12A3 | 16 | 0.99224054316198 | 24 | 3093 | 56899261-56899265, 56921837-56921848, 56921894, 56921932-56921937 |
| 383 | COQ9 | 16 | 0.99895506792059 | 1 | 957 | 57481418 |
| 384 | GPR56 | 16 | 0.99806201550388 | 4 | 2064 | 57695715-57695718 |
| 385 | TK2 | 16 | 0.95779220779221 | 39 | 924 | 66583844-66583856, 66583946, 66583950-66583955, 66583960, 66584011-66584013, 66584016-66584017, 66584029-66584041 |
| 386 | HSD11B2 | 16 | 0.70525451559934 | 359 | 1218 | 67465152-67465331, 67469640-67469644, 67469956, 67469970-67470029, 67470039-67470045, 67470202-67470208, 67470257-67470282, 67470288-67470289, 67470514-67470535, 67470701-67470719, 67470739-67470768 |
| 387 | LCAT | 16 | 0.94708994708995 | 70 | 1323 | 67974101-67974105, 67976613, 67976766-67976772, 67976860-67976879, 67976989-67977022, 67977989-67977991 |
| 388 | CDH3 | 16 | 0.98473895582329 | 38 | 2490 | 68679542-68679570, 68679580, 68679586, 68725780-68725786 |
| 389 | CDH1 | 16 | 0.98678746696867 | 35 | 2649 | 68771327-68771343, 68771360-68771366, 68857429-68857439 |
| 390 | COG8 | 16 | 0.94834148994018 | 95 | 1839 | 69364772-69364773, 69364783-69364787, 69364800-69364817, 69368680-69368683, 69373088-69373096, 69373174-69373179, 69373208-69373241, 69373248, 69373313-69373314, 69373319, 69373326-69373336, 69373345, 69373348 |
| 391 | TAT | 16 | 0.9992673992674 | 1 | 1365 | 71606574 |
| 392 | HP | 16 | 0.98116298116298 | 23 | 1221 | 72093014-72093036 |
| 393 | GCSH | 16 | 0.7816091954023 | 114 | 522 | 81129742-81129769, 81129786-81129855, 81129868-81129883 |
| 394 | GAN | 16 | 0.90969899665552 | 162 | 1794 | 81348719-81348792, 81348798-81348885 |
| 395 | MLYCD | 16 | 0.66666666666667 | 494 | 1482 | 83932750-83933222, 83933246-83933249, 83933261-83933277 |
| 396 | LRRC50 | 16 | 0.99449035812672 | 12 | 2178 | 84179046-84179048, 84179100-84179108 |
| 397 | FOXF1 | 16 | 0.6859649122807 | 358 | 1140 | 86544176-86544249, 86544257-86544274, 86544292-86544309, 86544353-86544359, 86544403, 86544479-86544528, 86544553-86544554, 86544559, 86544593-86544605, 86544692-86544738, 86544849-86544894, 86544920-86544949, 86544962, 86544965-86544977, 86544980, 86544988-86545013, 86545103-86545112 |
| 398 | FOXC2 | 16 | 0.57436918990704 | 641 | 1506 | 86600963-86600990, 86601066-86601072, 86601141-86601147, 86601408-86601450, 86601490-86601524, 86601628, 86601631-86601633, 86601663-86601671, 86601675, 86601685, 86601698-86602156, 86602169-86602196, 86602199-86602207, 86602298-86602300, 86602311, 86602317, 86602320, 86602361-86602364 |
| 399 | JPH3 | 16 | 0.86470850022252 | 304 | 2247 | 87636902-87636908, 87678034, 87678037-87678038, 87678402, 87723252-87723261, 87723270-87723279, 87723287-87723294, 87723334-87723345, 87723352-87723386, 87723418-87723452, 87723467-87723473, 87723534-87723560, 87723577-87723620, 87723630-87723640, 87723647-87723683, 87723693-87723700, 87723749-87723764, 87723965-87723990, 87724022-87724028 |
| 400 | CYBA | 16 | 0.54761904761905 | 266 | 588 | 88709770-88709886, 88709907-88709979, 88712537-88712585, 88713522, 88717364-88717389 |
| 401 | APRT | 16 | 0.96685082872928 | 18 | 543 | 88876547-88876550, 88878236-88878239, 88878285, 88878288, 88878300-88878307 |
| 402 | GALNS | 16 | 0.90057361376673 | 156 | 1569 | 88884445-88884480, 88923166-88923285 |
| 403 | SPG7 | 16 | 0.93551088777219 | 154 | 2388 | 89574826-89574931, 89574947-89574993, 89599007 |
| 404 | FANCA | 16 | 0.97962454212454 | 89 | 4368 | 89805048-89805058, 89805065, 89805069-89805071, 89825055, 89842167-89842172, 89842181-89842187, 89842198, 89842201, 89877375, 89877379, 89882945-89883000 |
| 405 | TUBB3 | 16 | 0.81448632668145 | 251 | 1353 | 89989810-89989866, 90001292, 90001601, 90001679-90001725, 90001733-90001773, 90001846-90001891, 90001903-90001905, 90001917, 90001943, 90001949, 90001962-90001967, 90002025-90002044, 90002051-90002059, 90002185-90002201 |
| 406 | PRPF8 | 17 | 0.99871575342466 | 9 | 7008 | 1561572-1561575, 1587811-1587815 |
| 407 | CTNS | 17 | 0.97173732335827 | 34 | 1203 | 3559996-3560016, 3560022-3560033, 3563610 |
| 408 | CHRNE | 17 | 0.97975708502024 | 30 | 1482 | 4802353-4802354, 4802378-4802380, 4802577-4802580, 4802612-4802616, 4802621, 4802627, 4802635-4802641, 4802768-4802771, 4804088-4804089, 4804430 |
| 409 | GP1BA | 17 | 0.95364583333333 | 89 | 1920 | 4835904-4835910, 4836020-4836026, 4837212-4837228, 4837257-4837291, 4837421, 4837562-4837574, 4837739, 4837756, 4837763-4837768, 4837777 |
| 410 | AIPL1 | 17 | 0.9991341991342 | 1 | 1155 | 6330075 |
| 411 | PITPNM3 | 17 | 0.92923076923077 | 207 | 2925 | 6358664-6358672, 6358689-6358717, 6358741-6358747, 6358771-6358809, 6358815-6358858, 6358864, 6358883-6358912, 6358921-6358939, 6358961-6358963, 6374529-6374531, 6374576, 6459705-6459726 |
| 412 | ACADVL | 17 | 0.97408536585366 | 51 | 1968 | 7123304-7123318, 7123336-7123340, 7123481-7123489, 7125310, 7127661-7127673, 7127697-7127699, 7127979-7127983 |
| 413 | CHRNB1 | 17 | 0.96480743691899 | 53 | 1506 | 7348447-7348450, 7348491-7348498, 7348653-7348666, 7348677-7348686, 7348719-7348728, 7350174-7350176, 7358650-7358653 |
| 414 | MPDU1 | 17 | 0.90188172043011 | 73 | 744 | 7489280-7489291, 7490235-7490236, 7490277-7490335 |
| 415 | GUCY2D | 17 | 0.83876811594203 | 534 | 3312 | 7906366-7906780, 7906820-7906848, 7906893-7906919, 7906933-7906965, 7906994-7907000, 7907058-7907060, 7907064-7907066, 7907173-7907176, 7907312-7907324 |
| 416 | ALOX12B | 17 | 0.9624881291548 | 79 | 2106 | 7976470-7976478, 7976485, 7982778-7982789, 7984233-7984243, 7984444-7984489 |
| 417 | ALOXE3 | 17 | 0.93679775280899 | 135 | 2136 | 8012567-8012573, 8012650-8012661, 8013245-8013286, 8013302-8013320, 8013433-8013437, 8013445, 8013450-8013454, 8013718-8013729, 8013734-8013739, 8013750-8013770, 8013804-8013808 |
| 418 | HES7 | 17 | 0.39675516224189 | 409 | 678 | 8024889-8025026, 8025050, 8025076-8025102, 8025124-8025157, 8025166-8025194, 8025204-8025250, 8025256-8025269, 8025302-8025308, 8025314-8025340, 8025661-8025745 |
| 419 | MYH8 | 17 | 0.99862401100791 | 8 | 5814 | 10301920, 10302121, 10302127, 10302141-10302145 |
| 420 | MYH2 | 17 | 0.9998283556471 | 1 | 5826 | 10429172 |
| 421 | SCO1 | 17 | 0.99337748344371 | 6 | 906 | 10600615-10600619, 10600688 |
| 422 | ELAC2 | 17 | 0.98871422813382 | 28 | 2481 | 12896192, 12898295, 12898311, 12921141-12921143, 12921150-12921170, 12921246 |
| 423 | COX10 | 17 | 0.99474474474474 | 7 | 1332 | 14095345-14095351 |
| 424 | PMP22 | 17 | 0.92753623188406 | 35 | 483 | 15163988-15164018, 15164038-15164041 |
| 425 | TNFRSF13B | 17 | 0.99886621315193 | 1 | 882 | 16855884 |
| 426 | FLCN | 17 | 0.99367816091954 | 11 | 1740 | 17116969-17116971, 17117034, 17117052, 17117062-17117063, 17117074-17117077 |
| 427 | RAI1 | 17 | 0.930256948086 | 399 | 5721 | 17696314-17696318, 17696373-17696401, 17696415-17696425, 17696436-17696498, 17696528, 17696531, 17696544-17696556, 17696709-17696710, 17696741-17696767, 17696791-17696798, 17696840-17696844, 17696992, 17697003, 17697013, 17697019-17697024, 17697090-17697134, 17697493-17697494, 17697499, 17697503, 17697517-17697522, 17697610-17697626, 17697788-17697806, 17697895-17697901, 17698055-17698063, 17698474-17698477, 17698755-17698759, 17698800-17698801, 17698810, 17698813, 17698826-17698831, 17698837, 17699038, 17699161-17699170, 17699174, 17699295, 17699525, 17699617-17699646, 17699758-17699764, 17699989-17699990, 17700002-17700010, 17700182, 17700219-17700230, 17700573-17700574, 17700792-17700795, 17701566-17701572, 17701578-17701583, 17701611-17701614 |
| 428 | ATPAF2 | 17 | 0.96666666666667 | 29 | 870 | 17921942-17921951, 17924466-17924484 |
| 429 | MYO15A | 17 | 0.8898329085245 | 1167 | 10593 | 18022911-18022914, 18023739-18023780, 18023830-18023832, 18023855, 18023865-18023887, 18023993-18024069, 18024114-18024636, 18024649-18024758, 18024764-18024839, 18024857-18024887, 18025047-18025055, 18025170-18025197, 18044411, 18052257-18052260, 18052848, 18053823-18053826, 18054492-18054498, 18054822-18054841, 18057089-18057125, 18057132-18057170, 18057178-18057210, 18060316-18060319, 18061063-18061078, 18061096-18061105, 18061127-18061129, 18061135-18061151, 18061161-18061167, 18064648, 18065899-18065901, 18070945-18070976, 18075023 |
| 430 | UNC119 | 17 | 0.69571230982019 | 220 | 723 | 26879356-26879575 |
| 431 | NEK8 | 17 | 0.999518999519 | 1 | 2079 | 27061868 |
| 432 | SLC6A4 | 17 | 0.98362387744321 | 31 | 1893 | 28534808, 28543209-28543234, 28548941-28548942, 28548953-28548954 |
| 433 | NF1 | 17 | 0.99143192488263 | 73 | 8520 | 29422328-29422387, 29546083-29546084, 29554237, 29586112, 29652847-29652853, 29677288-29677289 |
| 434 | HNF1B | 17 | 0.98805256869773 | 20 | 1674 | 36061028-36061031, 36091726, 36104657-36104663, 36104675-36104676, 36104683, 36104715, 36104721-36104722, 36104822-36104823 |
| 435 | TCAP | 17 | 0.98015873015873 | 10 | 504 | 37822034-37822039, 37822044-37822047 |
| 436 | KRT10 | 17 | 0.85868945868946 | 248 | 1755 | 38975078-38975080, 38975088-38975095, 38975097-38975107, 38975111-38975128, 38975133-38975134, 38975160-38975347, 38975369-38975376, 38975389-38975390, 38975394-38975401 |
| 437 | KRT13 | 17 | 0.99564270152505 | 6 | 1377 | 39661619-39661624 |
| 438 | KRT9 | 17 | 0.97489316239316 | 47 | 1872 | 39728132-39728166, 39728197-39728208 |
| 439 | KRT14 | 17 | 0.96546863988724 | 49 | 1419 | 39739513, 39739580-39739582, 39742611, 39742965-39743001, 39743030-39743036 |
| 440 | KRT16 | 17 | 0.9662447257384 | 48 | 1422 | 39766187-39766190, 39766598, 39766601, 39766628-39766630, 39768816-39768853, 39768935 |
| 441 | KRT17 | 17 | 0.97536566589684 | 32 | 1299 | 39780379-39780381, 39780385-39780390, 39780516-39780530, 39780574-39780581 |
| 442 | JUP | 17 | 0.9982126899017 | 4 | 2238 | 39915027-39915030 |
| 443 | FKBP10 | 17 | 0.99828473413379 | 3 | 1749 | 39969301, 39974696, 39974699 |
| 444 | STAT5B | 17 | 0.96108291032149 | 92 | 2364 | 40370308, 40370842, 40371349-40371399, 40371429-40371450, 40371730-40371744, 40371760-40371761 |
| 445 | STAT3 | 17 | 0.99870298313878 | 3 | 2313 | 40491370-40491372 |
| 446 | NAGLU | 17 | 0.85304659498208 | 328 | 2232 | 40688329-40688579, 40688586-40688653, 40688666-40688673, 40695503 |
| 447 | WNK4 | 17 | 0.95337620578778 | 174 | 3732 | 40932738-40932846, 40932856-40932899, 40932913-40932919, 40932923-40932929, 40932967-40932973 |
| 448 | SOST | 17 | 0.83177570093458 | 108 | 642 | 41832755-41832798, 41832869-41832900, 41832911-41832935, 41832948, 41832951, 41833025-41833027, 41833072-41833073 |
| 449 | NAGS | 17 | 0.81246105919003 | 301 | 1605 | 42082032-42082070, 42082081-42082117, 42082127-42082133, 42082194-42082218, 42082224-42082260, 42082278-42082284, 42082323-42082337, 42082416, 42082429, 42083083-42083087, 42083102-42083104, 42083167-42083169, 42083173, 42083201-42083207, 42083230-42083233, 42083237-42083239, 42083244-42083249, 42083256-42083262, 42083395-42083401, 42083471-42083510, 42083516-42083522, 42083586-42083605, 42083976-42083983, 42083987, 42084000-42084002, 42084005, 42084007-42084012 |
| 450 | SLC4A1 | 17 | 0.99086257309942 | 25 | 2736 | 42328571-42328577, 42330683-42330689, 42335078-42335081, 42335139-42335145 |
| 451 | GRN | 17 | 0.81705948372615 | 326 | 1782 | 42426864, 42427843, 42427850-42427855, 42428070-42428073, 42428084-42428091, 42428102-42428139, 42428150-42428154, 42428518-42428519, 42428794, 42429410-42429426, 42429561-42429575, 42429709-42429737, 42429744-42429789, 42429806-42429835, 42429881-42429939, 42430029-42430083, 42430117-42430125 |
| 452 | ITGA2B | 17 | 0.99615384615385 | 12 | 3120 | 42452037, 42452049-42452051, 42452414-42452416, 42452455-42452457, 42461277, 42461280 |
| 453 | GFAP | 17 | 0.99615088529638 | 5 | 1299 | 42992473-42992477 |
| 454 | PLEKHM1 | 17 | 0.99085461999369 | 29 | 3171 | 43515313-43515320, 43530882, 43531406-43531411, 43552534-43552540, 43552714-43552720 |
| 455 | MAPT | 17 | 0.996567996568 | 8 | 2331 | 44060772, 44061036, 44061172-44061175, 44101484-44101485 |
| 456 | WNT3 | 17 | 0.93445692883895 | 70 | 1068 | 44845805-44845807, 44845818-44845823, 44847362, 44851036-44851055, 44851134-44851142, 44851233-44851238, 44851258-44851261, 44895919-44895938, 44895951 |
| 457 | ITGB3 | 17 | 0.98352344740177 | 39 | 2367 | 45331231-45331259, 45331278-45331287 |
| 458 | PNPO | 17 | 0.98091603053435 | 15 | 786 | 46019046-46019055, 46019061-46019064, 46019072 |
| 459 | SGCA | 17 | 0.97594501718213 | 28 | 1164 | 48247634-48247653, 48247667-48247674 |
| 460 | COL1A1 | 17 | 0.98612059158134 | 61 | 4395 | 48265936-48265951, 48271372, 48276614-48276625, 48276785-48276812, 48277144, 48277147-48277149 |
| 461 | NOG | 17 | 0.73390557939914 | 186 | 699 | 54671585-54671606, 54671656-54671693, 54671733-54671756, 54671771-54671795, 54671821-54671841, 54671932-54671939, 54672138-54672145, 54672186-54672225 |
| 462 | MKS1 | 17 | 0.99821428571429 | 3 | 1680 | 56283660, 56292110, 56295991 |
| 463 | TRIM37 | 17 | 0.99205526770294 | 23 | 2895 | 57105885-57105889, 57105909-57105917, 57125056-57125058, 57168670-57168675 |
| 464 | AP1S2 | 17 | 0.9150641025641 | 53 | 624 | 58179732-58179736, 58179908-58179909, 58180038-58180083 |
| 465 | CA4 | 17 | 0.97231096911608 | 26 | 939 | 58227396-58227403, 58227427, 58236660-58236661, 58236673-58236682, 58236703-58236707 |
| 466 | TBX4 | 17 | 0.94932844932845 | 83 | 1638 | 59533888-59533919, 59533943-59533963, 59534005-59534034 |
| 467 | BRIP1 | 17 | 0.99306666666667 | 26 | 3750 | 59763446-59763460, 59763469-59763478, 59793371 |
| 468 | ACE | 17 | 0.92374394287172 | 299 | 3921 | 61554456-61554704, 61557712, 61557715, 61561830-61561831, 61561836-61561838, 61561853, 61561864-61561865, 61561870, 61566437-61566443, 61574566-61574583, 61574593-61574599, 61574642-61574648 |
| 469 | TACO1 | 17 | 0.99440715883669 | 5 | 894 | 61678452-61678456 |
| 470 | SCN4A | 17 | 0.97749954636182 | 124 | 5511 | 62019228-62019250, 62019273-62019277, 62026054-62026057, 62026114-62026119, 62026123, 62026753-62026754, 62038697-62038730, 62038749, 62038774-62038778, 62038787-62038791, 62043574-62043603, 62043841-62043845, 62048522, 62048525-62048526 |
| 471 | POLG2 | 17 | 0.99794238683128 | 3 | 1458 | 62487058-62487060 |
| 472 | AXIN2 | 17 | 0.96919431279621 | 78 | 2532 | 63532456-63532470, 63533442, 63533516-63533519, 63533666-63533713, 63533743-63533745, 63533758-63533761, 63533774, 63554542, 63554669 |
| 473 | SOX9 | 17 | 0.88039215686275 | 183 | 1530 | 70117817, 70117937-70117940, 70118908-70118909, 70119882-70119886, 70119896-70119909, 70119915-70119919, 70119969, 70119972-70119975, 70119983-70119993, 70120006-70120021, 70120027-70120069, 70120075-70120116, 70120124-70120152, 70120221, 70120226-70120227, 70120416, 70120435-70120436 |
| 474 | COG1 | 17 | 0.89738362215426 | 302 | 2943 | 71189209-71189397, 71189406-71189462, 71189472-71189523, 71193464, 71193469, 71199275-71199276 |
| 475 | DNAI2 | 17 | 0.98954895489549 | 19 | 1818 | 72306216-72306226, 72306237-72306244 |
| 476 | USH1G | 17 | 0.95021645021645 | 69 | 1386 | 72915710-72915715, 72916141, 72916189, 72916200-72916209, 72916481-72916487, 72919005-72919038, 72919140-72919143, 72919147-72919148, 72919159-72919162 |
| 477 | TSEN54 | 17 | 0.88361796331436 | 184 | 1581 | 73512642-73512697, 73512827-73512835, 73512858-73512864, 73512870-73512981 |
| 478 | ITGB4 | 17 | 0.94551106235144 | 298 | 5469 | 73726469-73726476, 73726563, 73726985-73726992, 73727029, 73732683-73732686, 73733685-73733725, 73738469, 73738749-73738759, 73738811, 73738814-73738815, 73738835, 73744936-73744937, 73748374-73748386, 73749846-73749871, 73749901-73749904, 73749946-73750055, 73751782-73751810, 73751832-73751835, 73751844-73751874 |
| 479 | GALK1 | 17 | 0.89821882951654 | 120 | 1179 | 73754320-73754331, 73754372-73754379, 73754593-73754616, 73759155-73759156, 73759162-73759168, 73759178-73759182, 73759193, 73761103-73761141, 73761173-73761174, 73761198-73761217 |
| 480 | UNC13D | 17 | 0.94775435380385 | 171 | 3273 | 73824165, 73826478-73826482, 73826659-73826675, 73826680, 73826706, 73827367-73827380, 73827412-73827413, 73827418, 73830473-73830486, 73831502-73831540, 73831728, 73832315, 73832751-73832758, 73832763-73832764, 73832769-73832777, 73835968, 73838995-73839004, 73839113-73839142, 73839250-73839256, 73839263-73839269 |
| 481 | SEPT9 | 17 | 0.89778534923339 | 180 | 1761 | 75398440-75398443, 75398447, 75398741-75398757, 75483582, 75484869-75484874, 75484907-75484915, 75484941-75484946, 75494605-75494740 |
| 482 | GAA | 17 | 0.97306750612102 | 77 | 2859 | 78078522-78078524, 78078564-78078597, 78078705-78078713, 78082206-78082208, 78082595-78082598, 78086377-78086400 |
| 483 | SGSH | 17 | 0.9324055666004 | 102 | 1509 | 78190836-78190861, 78190959-78190991, 78194051-78194058, 78194078-78194112 |
| 484 | ACTG1 | 17 | 0.98758865248227 | 14 | 1128 | 79477758-79477760, 79479002-79479012 |
| 485 | FSCN2 | 17 | 0.86206896551724 | 204 | 1479 | 79495740-79495769, 79495789-79495792, 79495892, 79495982-79495988, 79496207, 79496210, 79496215-79496216, 79496221-79496232, 79496253-79496257, 79503213-79503216, 79503717, 79503752, 79503764-79503766, 79503772, 79503789-79503794, 79503803-79503810, 79503909-79503911, 79503939-79503945, 79503953-79503962, 79503965-79503966, 79503973, 79503976, 79503992-79504003, 79504026-79504106 |
| 486 | TGIF1 | 18 | 0.99668325041459 | 4 | 1206 | 3451991, 3451994, 3452223-3452224 |
| 487 | NDUFV2 | 18 | 0.95733333333333 | 32 | 750 | 9102749, 9102758-9102788 |
| 488 | AFG3L2 | 18 | 0.95739348370927 | 102 | 2394 | 12376980-12377081 |
| 489 | NPC1 | 18 | 0.9981756580662 | 7 | 3837 | 21123533, 21124939, 21166269-21166273 |
| 490 | LAMA3 | 18 | 0.98550289942012 | 145 | 10002 | 21269652-21269718, 21269736-21269789, 21269807-21269823, 21269910-21269914, 21426356, 21511103 |
| 491 | DSC3 | 18 | 0.98439241917503 | 42 | 2691 | 28574310-28574311, 28622587-28622626 |
| 492 | DSC2 | 18 | 0.99076127124908 | 25 | 2706 | 28681866-28681877, 28681897-28681909 |
| 493 | DSG2 | 18 | 0.98748882931189 | 42 | 3357 | 29078215-29078256 |
| 494 | LOXHD1 | 18 | 0.98447860156721 | 103 | 6636 | 44126858-44126859, 44126868-44126932, 44140196-44140223, 44140243-44140250 |
| 495 | MYO5B | 18 | 0.99332972778078 | 37 | 5547 | 47352977, 47380001, 47390527-47390535, 47402158, 47421311, 47421459, 47429129-47429133, 47721137-47721153, 47721163 |
| 496 | SMAD4 | 18 | 0.98975286317058 | 17 | 1659 | 48584608, 48603045-48603047, 48603057, 48603061, 48603066-48603076 |
| 497 | FECH | 18 | 0.95813953488372 | 54 | 1290 | 55238709, 55253786-55253794, 55253809-55253852 |
| 498 | ATP8B1 | 18 | 0.99227902023429 | 29 | 3756 | 55315871-55315882, 55328523-55328527, 55334395-55334397, 55364856, 55364860-55364867 |
| 499 | RAX | 18 | 0.6983669548511 | 314 | 1041 | 56936262-56936265, 56936284-56936311, 56936324-56936346, 56936354-56936417, 56936437-56936565, 56936586-56936622, 56940259-56940287 |
| 500 | LMAN1 | 18 | 0.99543378995434 | 7 | 1533 | 57000473, 57013281-57013283, 57026359-57026361 |
| 501 | CCBE1 | 18 | 0.93611793611794 | 78 | 1221 | 57134045, 57134050-57134058, 57364493-57364531, 57364546-57364574 |
| 502 | TNFRSF11A | 18 | 0.92382495948136 | 141 | 1851 | 59992586-59992660, 60021752-60021761, 60051997-60052003, 60052076-60052101, 60052200, 60052203, 60052212-60052232 |
| 503 | CTDP1 | 18 | 0.9029799029799 | 280 | 2886 | 77439990-77440183, 77440199-77440210, 77440218-77440240, 77474604, 77474611, 77474617, 77496406, 77513686-77513727, 77513740-77513743, 77513770 |
| 504 | ELANE | 19 | 0.77363184079602 | 182 | 804 | 852876-852915, 853262-853403 |
| 505 | KISS1R | 19 | 0.28738512949039 | 853 | 1197 | 917503-917523, 917536, 917551-917659, 917712-917719, 918548-918570, 918582-918668, 919889-919894, 919914-919945, 919957-920002, 920020-920053, 920060-920106, 920290-920495, 920504-920522, 920530-920631, 920637-920748 |
| 506 | STK11 | 19 | 0.98463901689708 | 20 | 1302 | 1219367, 1219374, 1219380-1219384, 1219409-1219410, 1221317-1221321, 1221324, 1226642-1226646 |
| 507 | NDUFS7 | 19 | 0.99221183800623 | 5 | 642 | 1387844-1387846, 1388584, 1393254 |
| 508 | GAMT | 19 | 0.85432098765432 | 118 | 810 | 1398837-1398843, 1399792-1399793, 1399808, 1399892-1399905, 1401308-1401327, 1401390-1401429, 1401437-1401470 |
| 509 | RAX2 | 19 | 0.6954954954955 | 169 | 555 | 3770619-3770626, 3770632-3770712, 3770718-3770778, 3770921-3770924, 3770928-3770930, 3770935-3770946 |
| 510 | MAP2K2 | 19 | 0.9168744804655 | 100 | 1203 | 4099211-4099218, 4123781-4123872 |
| 511 | NDUFA11 | 19 | 0.91079812206573 | 38 | 426 | 5896464-5896477, 5896480-5896496, 5896514, 5896998-5897003 |
| 512 | TUBB4 | 19 | 0.92958801498127 | 94 | 1335 | 6495567-6495613, 6495622-6495638, 6495645-6495672, 6502219, 6502222 |
| 513 | C3 | 19 | 0.96033653846154 | 198 | 4992 | 6693455-6693461, 6693466, 6693472-6693473, 6693481, 6693486-6693489, 6707087-6707134, 6707148-6707161, 6707167-6707171, 6707192-6707247, 6707255-6707260, 6707264-6707267, 6707284, 6707520, 6707815, 6707829, 6713440-6713453, 6713514-6713520, 6714003-6714006, 6714177-6714197 |
| 514 | INSR | 19 | 0.97372860930345 | 109 | 4149 | 7126629-7126636, 7184448-7184454, 7184491-7184494, 7184501, 7184529-7184530, 7184538-7184547, 7293813-7293847, 7293861-7293902 |
| 515 | MCOLN1 | 19 | 0.95582329317269 | 77 | 1743 | 7587651-7587660, 7592439-7592441, 7593999-7594019, 7594512-7594533, 7598492-7598512 |
| 516 | PNPLA6 | 19 | 0.95657630522088 | 173 | 3984 | 7600866, 7600895-7600899, 7604833-7604834, 7605097, 7605100, 7615899-7615937, 7615944-7615953, 7616248-7616266, 7616297-7616301, 7619506-7619538, 7619909-7619910, 7619915, 7619921-7619925, 7620230-7620248, 7621546-7621572, 7621609-7621610, 7622065 |
| 517 | STXBP2 | 19 | 0.91582491582492 | 150 | 1782 | 7702038-7702064, 7702070-7702072, 7706650-7706655, 7706715-7706739, 7706920-7706924, 7706945-7706954, 7706960, 7706968, 7706972-7706976, 7707099-7707130, 7707338, 7707347-7707351, 7707911-7707934, 7708077, 7709582, 7711156-7711158 |
| 518 | ADAMTS10 | 19 | 0.95018115942029 | 165 | 3312 | 8649811-8649817, 8649864-8649866, 8649898-8649931, 8650026-8650058, 8650112-8650114, 8650353-8650362, 8650395, 8650410-8650412, 8650424-8650429, 8650466-8650468, 8650494-8650497, 8650501-8650502, 8650507-8650510, 8650514-8650516, 8654236-8654239, 8654244-8654249, 8654393-8654396, 8654436-8654439, 8669926-8669948, 8670075-8670076, 8670081-8670086 |
| 519 | TYK2 | 19 | 0.95707070707071 | 153 | 3564 | 10463137-10463172, 10463613-10463635, 10463649-10463683, 10463699-10463700, 10464233, 10464238-10464250, 10464255-10464260, 10465273-10465274, 10475649-10475655, 10476365-10476386, 10476472-10476477 |
| 520 | DNM2 | 19 | 0.92231151932644 | 203 | 2613 | 10828919-10829079, 10939790-10939792, 10939798-10939810, 10939824-10939826, 10939830-10939835, 10940911-10940921, 10940941, 10940950, 10940954-10940957 |
| 521 | LDLR | 19 | 0.99728997289973 | 7 | 2583 | 11200273-11200279 |
| 522 | PRKCSH | 19 | 0.98487712665406 | 24 | 1587 | 11558254-11558255, 11558307, 11558343-11558363 |
| 523 | MAN2B1 | 19 | 0.90843214756258 | 278 | 3036 | 12758080-12758088, 12758093-12758103, 12758107, 12758360-12758404, 12759007-12759038, 12759061-12759095, 12759116-12759147, 12766576, 12767763-12767779, 12767785-12767787, 12767807-12767812, 12767854-12767862, 12767868, 12768275-12768318, 12768360-12768369, 12776614-12776619, 12777422-12777423, 12777450-12777462, 12777466 |
| 524 | GCDH | 19 | 0.98936977980258 | 14 | 1317 | 13002119, 13002126-13002128, 13002135-13002139, 13002150-13002154 |
| 525 | CACNA1A | 19 | 0.82063555378274 | 1349 | 7521 | 13318127-13318130, 13318156-13318198, 13318238-13318867, 13319598-13319647, 13319690-13319726, 13320155-13320192, 13409382-13409386, 13409426-13409427, 13409458-13409674, 13409729-13409764, 13409800-13409824, 13616746-13616755, 13616775-13616848, 13616854-13617031 |
| 526 | NOTCH3 | 19 | 0.88931955211025 | 771 | 6966 | 15271511-15271522, 15271752, 15271864-15271895, 15272094-15272102, 15272112-15272116, 15272125, 15272216-15272251, 15272461-15272496, 15272511-15272518, 15276754-15276756, 15276771-15276774, 15281172-15281202, 15281217-15281238, 15281298-15281363, 15281482-15281495, 15281523-15281526, 15281530, 15281537-15281553, 15281588-15281606, 15281613-15281635, 15284984, 15284987, 15284990, 15285090-15285092, 15288377, 15288381, 15288386, 15288538-15288542, 15288571-15288770, 15288779-15288831, 15288852, 15288854-15288858, 15288864-15288871, 15288878-15288890, 15288901, 15290994, 15291924-15291930, 15292434-15292440, 15296119-15296124, 15296128, 15296134-15296141, 15311615-15311716 |
| 527 | CYP4F22 | 19 | 0.98997493734336 | 16 | 1596 | 15636311-15636317, 15662270-15662278 |
| 528 | JAK3 | 19 | 0.88325925925926 | 394 | 3375 | 17940917-17940966, 17940974-17940993, 17941326-17941380, 17941395-17941401, 17941411-17941429, 17942185-17942209, 17942563-17942566, 17945477-17945482, 17945488-17945507, 17949083-17949086, 17949096-17949097, 17949103, 17949110-17949114, 17950366-17950372, 17953158-17953195, 17953231-17953279, 17953287-17953343, 17953401, 17953858-17953881 |
| 529 | SLC5A5 | 19 | 0.97256728778468 | 53 | 1932 | 17984947-17984948, 17984960-17984981, 17985011-17985012, 17994687, 17994689-17994700, 17994711-17994723, 17999212 |
| 530 | IL12RB1 | 19 | 0.99648064353947 | 7 | 1989 | 18177486-18177489, 18197631-18197633 |
| 531 | COMP | 19 | 0.77352682497801 | 515 | 2274 | 18896491-18896544, 18896569-18896575, 18896583-18896591, 18896831, 18896834-18896835, 18898378-18898389, 18898420-18898444, 18899091-18899095, 18899102-18899113, 18899226-18899233, 18899239, 18899247-18899287, 18899294-18899309, 18899404-18899444, 18899456-18899512, 18899559, 18899969-18899990, 18900017-18900023, 18900037, 18900041-18900045, 18900096-18900106, 18900751-18900783, 18900795-18900893, 18900899-18900923, 18901666-18901672, 18901677-18901682, 18901702-18901708 |
| 532 | CEBPA | 19 | 0.19591457753018 | 866 | 1077 | 33792244-33792253, 33792451-33792488, 33792498-33792565, 33792571-33793320 |
| 533 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 534 | MAG | 19 | 0.95800106326422 | 79 | 1881 | 35790617, 35790634, 35790644-35790649, 35790729-35790735, 35790738, 35791061-35791109, 35791131-35791144 |
| 535 | PRODH2 | 19 | 0.94723774053383 | 85 | 1611 | 36297667, 36297722-36297726, 36297946, 36303086-36303108, 36303281-36303328, 36303334-36303340 |
| 536 | NPHS1 | 19 | 0.96806226516371 | 119 | 3726 | 36336326-36336329, 36336593-36336604, 36336623-36336629, 36336644-36336665, 36336687-36336700, 36336928-36336933, 36337044, 36337054-36337069, 36337090-36337092, 36339577-36339610 |
| 537 | SDHAF1 | 19 | 0.60344827586207 | 138 | 348 | 36486177-36486186, 36486193-36486204, 36486227-36486262, 36486300, 36486304-36486307, 36486341-36486361, 36486369-36486421, 36486504 |
| 538 | WDR62 | 19 | 0.98490813648294 | 69 | 4572 | 36545880-36545885, 36546010-36546013, 36546024, 36549749-36549755, 36558288-36558294, 36595857-36595900 |
| 539 | RYR1 | 19 | 0.94158893960442 | 883 | 15117 | 38931385, 38931484-38931488, 38943499-38943505, 38954160-38954167, 38954486, 38956913-38956916, 38964327-38964336, 38976260, 38976288-38976328, 38976339-38976380, 38976630-38976638, 38976646-38976683, 38976692-38976715, 38976766, 38976769-38976771, 38987503-38987518, 38990359, 38993147, 38993151, 38993156-38993169, 38993177-38993181, 38993239-38993244, 38994909-38994910, 38997486, 38998413-38998420, 38998425-38998432, 39008204-39008214, 39018365, 39019617-39019619, 39037085-39037091, 39037098-39037121, 39037137-39037163, 39055600-39055606, 39055707-39055718, 39055732-39056182, 39056201-39056223, 39056275-39056277, 39056286-39056319, 39056358-39056360, 39062706-39062709, 39062772-39062773, 39062778-39062784, 39068841, 39075665-39075669 |
| 540 | ACTN4 | 19 | 0.93567251461988 | 176 | 2736 | 39138411-39138417, 39138425-39138433, 39138441-39138446, 39138452-39138461, 39138474-39138517, 39138537-39138547, 39200971-39200982, 39214637-39214643, 39214822-39214827, 39214846-39214869, 39216455-39216487, 39218596-39218602 |
| 541 | DLL3 | 19 | 0.75767366720517 | 450 | 1857 | 39990004, 39993455-39993457, 39993463-39993473, 39993500-39993667, 39997768-39997781, 39997798-39997919, 39997946-39997951, 39997998-39998052, 39998078-39998085, 39998089, 39998097-39998098, 39998106-39998140, 39998189-39998196, 39998207-39998221, 39998255 |
| 542 | PRX | 19 | 0.96534427724578 | 152 | 4386 | 40900734, 40900862, 40901306, 40901310-40901312, 40903400, 40903406-40903408, 40903415, 40903423-40903431, 40904527-40904528, 40909635-40909676, 40909682-40909769 |
| 543 | TGFB1 | 19 | 0.82949701619778 | 200 | 1173 | 41836999-41837001, 41837010-41837095, 41838046-41838047, 41848105-41848111, 41854236-41854246, 41854249-41854256, 41854261-41854262, 41854303, 41858864-41858904, 41858911-41858949 |
| 544 | BCKDHA | 19 | 0.97683109118087 | 31 | 1338 | 41903750-41903761, 41916837-41916839, 41929058, 41929063-41929072, 41930353-41930357 |
| 545 | ATP1A3 | 19 | 0.92740619902121 | 267 | 3678 | 42470782-42470788, 42470963-42470977, 42470995-42471010, 42471016-42471023, 42471041-42471062, 42471086-42471113, 42471182-42471186, 42471308-42471372, 42480568-42480600, 42480646-42480670, 42480676-42480718 |
| 546 | ETHE1 | 19 | 0.95816993464052 | 32 | 765 | 44011005, 44011008, 44012212, 44031259-44031283, 44031294-44031296, 44031321 |
| 547 | BCAM | 19 | 0.89825119236884 | 192 | 1887 | 45312383-45312452, 45314499-45314507, 45322123-45322125, 45322956-45322959, 45323962-45324019, 45324038-45324079, 45324173-45324178 |
| 548 | APOE | 19 | 0.61006289308176 | 372 | 954 | 45411861-45411899, 45411908-45411954, 45411963-45412021, 45412034-45412038, 45412065-45412066, 45412092-45412140, 45412151-45412190, 45412204-45412262, 45412373-45412378, 45412413-45412442, 45412456-45412491 |
| 549 | BLOC1S3 | 19 | 0.42364532019704 | 351 | 609 | 45682578-45682602, 45682623-45682629, 45682688-45682711, 45682744-45682788, 45682827-45682871, 45682881-45682959, 45682987, 45683006-45683130 |
| 550 | ERCC2 | 19 | 0.96627244853263 | 77 | 2283 | 45856401, 45867002-45867012, 45867023-45867044, 45867145-45867151, 45867255-45867264, 45867292-45867316, 45867322 |
| 551 | OPA3 | 19 | 0.97053406998158 | 16 | 543 | 46032426-46032440, 46032628 |
| 552 | SIX5 | 19 | 0.70720720720721 | 650 | 2220 | 46268977-46268987, 46269094, 46269100-46269101, 46269105-46269108, 46269680-46269682, 46269760-46269766, 46269876-46269879, 46270149-46270171, 46270195-46270200, 46271310-46271339, 46271375-46271410, 46271438-46271475, 46271495-46271500, 46271538-46271612, 46271642, 46271646-46271655, 46271660-46271668, 46271676-46271689, 46271694-46271700, 46271714, 46271719-46271726, 46271749-46272102 |
| 553 | DMPK | 19 | 0.89365079365079 | 201 | 1890 | 46273768-46273795, 46274253-46274282, 46278242, 46281386-46281393, 46281764-46281766, 46285451-46285463, 46285493-46285610 |
| 554 | FKRP | 19 | 0.57190860215054 | 637 | 1488 | 47258814-47258822, 47258830-47258834, 47258836-47258837, 47258864, 47258945-47258993, 47259018-47259022, 47259037-47259041, 47259049-47259053, 47259068-47259070, 47259118-47259126, 47259141-47259280, 47259294-47259300, 47259311-47259470, 47259480-47259481, 47259484-47259536, 47259586-47259590, 47259613-47259685, 47259703-47259768, 47259785-47259794, 47259830-47259832, 47259916-47259917, 47260049-47260055, 47260081-47260093, 47260097, 47260105, 47260136 |
| 555 | CRX | 19 | 0.97777777777778 | 20 | 900 | 48342621, 48342633-48342638, 48342647-48342659 |
| 556 | DBP | 19 | 0.62474437627812 | 367 | 978 | 49138837-49139030, 49139036-49139082, 49139088-49139118, 49139127-49139164, 49139229-49139232, 49139241-49139247, 49140176-49140181, 49140186-49140189, 49140196-49140231 |
| 557 | FTL | 19 | 0.99810606060606 | 1 | 528 | 49469087 |
| 558 | GYS1 | 19 | 0.99593495934959 | 9 | 2214 | 49473869-49473877 |
| 559 | MED25 | 19 | 0.9349376114082 | 146 | 2244 | 50321620-50321654, 50321665-50321666, 50321845-50321854, 50333087-50333090, 50333455-50333460, 50333768-50333782, 50333792-50333799, 50333805-50333807, 50334072-50334081, 50334116-50334144, 50335402-50335414, 50338434, 50339550-50339559 |
| 560 | PNKP | 19 | 0.93422733077905 | 103 | 1566 | 50364615-50364619, 50365135-50365137, 50365328-50365330, 50365480-50365504, 50365534-50365538, 50365628-50365629, 50365795-50365798, 50365818-50365824, 50365835-50365865, 50365984-50365989, 50370409-50370417, 50370429-50370431 |
| 561 | MYH14 | 19 | 0.97905416462117 | 128 | 6111 | 50713633-50713661, 50713715-50713718, 50713832, 50713988, 50714005-50714015, 50727416-50727418, 50747545-50747549, 50762401-50762404, 50762411, 50762414-50762422, 50770142-50770166, 50770181-50770184, 50770211-50770220, 50780085-50780088, 50780141, 50784934-50784936, 50785056, 50789907-50789911, 50812949-50812955 |
| 562 | KCNC3 | 19 | 0.49208443271768 | 1155 | 2274 | 50823503-50823606, 50826270, 50826294, 50826298, 50826344-50826357, 50826365-50826367, 50826397-50826429, 50826436-50826479, 50826523-50826529, 50826542-50826575, 50826625-50826656, 50826765, 50826781, 50826789, 50826798, 50826903-50826909, 50831470-50832339 |
| 563 | KLK4 | 19 | 0.95816993464052 | 32 | 765 | 51411944, 51411949-51411955, 51412602-51412615, 51412620-51412624, 51412653, 51412667-51412670 |
| 564 | ETFB | 19 | 0.95773294908742 | 44 | 1041 | 51856432-51856465, 51857404-51857413 |
| 565 | NLRP12 | 19 | 0.9978028876334 | 7 | 3186 | 54304629, 54313667-54313669, 54314393-54314395 |
| 566 | PRKCG | 19 | 0.83428844317096 | 347 | 2094 | 54385749-54385750, 54385758-54385803, 54385813-54385849, 54385900-54385918, 54387473-54387480, 54392901-54392907, 54392913-54392914, 54392919-54392923, 54392932-54392989, 54393140-54393271, 54401821, 54403980, 54406360-54406369, 54409969-54409980, 54410001-54410005, 54410011-54410012 |
| 567 | PRPF31 | 19 | 0.998 | 3 | 1500 | 54625946, 54627878-54627879 |
| 568 | TSEN34 | 19 | 0.88210075026795 | 110 | 933 | 54695231-54695238, 54695283-54695375, 54695391-54695398, 54695665 |
| 569 | NLRP7 | 19 | 0.99935773924213 | 2 | 3114 | 55450976-55450977 |
| 570 | TNNT1 | 19 | 0.85551330798479 | 114 | 789 | 55648548-55648558, 55648566-55648580, 55652271, 55652275-55652280, 55652311-55652324, 55652654-55652670, 55656919, 55657825-55657834, 55658049-55658075, 55658376-55658387 |
| 571 | TNNI3 | 19 | 0.78981937602627 | 128 | 609 | 55667578-55667625, 55667639-55667659, 55667680-55667697, 55667972-55668012 |
| 572 | AURKC | 19 | 0.99462365591398 | 5 | 930 | 57743141-57743145 |
| 573 | TPO | 2 | 0.92255531763026 | 217 | 2802 | 1480916-1480948, 1480982-1480987, 1481003-1481047, 1481057-1481060, 1481093-1481117, 1481145-1481158, 1481204-1481252, 1481258-1481296, 1481345, 1481349 |
| 574 | RPS7 | 2 | 0.98803418803419 | 7 | 585 | 3623232-3623236, 3623263-3623264 |
| 575 | KLF11 | 2 | 0.97270955165692 | 42 | 1539 | 10183844-10183885 |
| 576 | LPIN1 | 2 | 0.99887766554433 | 3 | 2673 | 11955329-11955330, 11955333 |
| 577 | MYCN | 2 | 0.69390681003584 | 427 | 1395 | 16082404-16082410, 16082433-16082463, 16082473-16082484, 16082492-16082600, 16082629-16082858, 16082867, 16082882, 16082895-16082928, 16086185-16086186 |
| 578 | MATN3 | 2 | 0.8870636550308 | 165 | 1461 | 20212173-20212183, 20212205-20212249, 20212284-20212392 |
| 579 | APOB | 2 | 0.99452234881683 | 75 | 13692 | 21266736-21266810 |
| 580 | POMC | 2 | 0.8544776119403 | 117 | 804 | 25384063-25384079, 25384164-25384211, 25384331, 25384357-25384358, 25384412-25384448, 25384464-25384475 |
| 581 | HADHB | 2 | 0.99929824561404 | 1 | 1425 | 26507825 |
| 582 | OTOF | 2 | 0.95645645645646 | 261 | 5994 | 26685049, 26696908-26696909, 26696914, 26696918-26696925, 26696955-26696958, 26696968, 26697383-26697391, 26697396-26697409, 26697517-26697518, 26697526-26697530, 26699133, 26699137, 26699759-26699911, 26700089-26700140, 26700336-26700339, 26702191-26702193 |
| 583 | EIF2B4 | 2 | 0.99325980392157 | 11 | 1632 | 27592853-27592863 |
| 584 | C2orf71 | 2 | 0.99844840961986 | 6 | 3867 | 29293648-29293649, 29293798, 29294053-29294055 |
| 585 | ALK | 2 | 0.98519432449105 | 72 | 4863 | 29451816, 29462675-29462681, 29754866-29754871, 30143237-30143245, 30143402-30143413, 30143419-30143421, 30143423-30143425, 30143492-30143522 |
| 586 | XDH | 2 | 0.99950024987506 | 2 | 4002 | 31560609, 31604522 |
| 587 | SRD5A2 | 2 | 0.93569553805774 | 49 | 762 | 31805823-31805846, 31805874-31805880, 31805883-31805900 |
| 588 | SPAST | 2 | 0.79686655861696 | 376 | 1851 | 32288915-32288952, 32288978-32289315 |
| 589 | CYP1B1 | 2 | 0.82169117647059 | 291 | 1632 | 38301660, 38301667-38301673, 38301886-38301888, 38301894, 38301899-38301906, 38301919-38301942, 38301954-38301988, 38301995-38302053, 38302090-38302096, 38302170-38302218, 38302284-38302341, 38302386-38302389, 38302397-38302399, 38302420-38302451 |
| 590 | SOS1 | 2 | 0.99475262368816 | 21 | 4002 | 39222327, 39285891, 39347490-39347491, 39347547-39347563 |
| 591 | ABCG5 | 2 | 0.94427402862986 | 109 | 1956 | 44050056-44050062, 44058918-44058919, 44058958-44058982, 44058992-44058996, 44059086-44059141, 44059171-44059178, 44059192, 44059198-44059201, 44059221 |
| 592 | ABCG8 | 2 | 0.99159248269041 | 17 | 2022 | 44099142-44099143, 44099419-44099422, 44099430-44099437, 44100980, 44102367-44102368 |
| 593 | LRPPRC | 2 | 0.99522102747909 | 20 | 4185 | 44115783, 44153052, 44222967-44222973, 44222984-44222994 |
| 594 | SIX3 | 2 | 0.77077077077077 | 229 | 999 | 45169307-45169325, 45169333-45169396, 45169426, 45169437-45169458, 45169502-45169515, 45169522-45169535, 45169569-45169588, 45169597, 45169609-45169617, 45169634-45169668, 45169695-45169704, 45171736-45171745, 45171754, 45171757, 45171784-45171791 |
| 595 | EPCAM | 2 | 0.97777777777778 | 21 | 945 | 47596645, 47596656-47596661, 47596684-47596693, 47596698-47596700, 47596703 |
| 596 | MSH2 | 2 | 0.9903743315508 | 27 | 2805 | 47630468-47630493, 47639636 |
| 597 | MSH6 | 2 | 0.93632133235366 | 260 | 4083 | 48010373-48010632 |
| 598 | LHCGR | 2 | 0.96047619047619 | 83 | 2100 | 48915925-48915927, 48982686-48982687, 48982691-48982695, 48982729-48982794, 48982800-48982806 |
| 599 | NRXN1 | 2 | 0.96587570621469 | 151 | 4425 | 50758412-50758417, 51254671-51254673, 51254676, 51254767-51254799, 51255072-51255078, 51255118-51255148, 51255262-51255274, 51255278-51255279, 51255294-51255295, 51255337-51255362, 51255385-51255411 |
| 600 | EFEMP1 | 2 | 0.99325236167341 | 10 | 1482 | 56102091-56102094, 56102158, 56144958, 56144972, 56144975-56144977 |
| 601 | PEX13 | 2 | 0.99917491749175 | 1 | 1212 | 61258684 |
| 602 | ATP6V1B1 | 2 | 0.98767833981842 | 19 | 1542 | 71163111-71163112, 71163128-71163133, 71163173, 71163185-71163187, 71163196-71163200, 71188070, 71192109 |
| 603 | MCEE | 2 | 0.97928436911488 | 11 | 531 | 71337209, 71337219-71337221, 71337235-71337241 |
| 604 | DYSF | 2 | 0.99449685534591 | 35 | 6360 | 71694034-71694040, 71753450-71753476, 71801426 |
| 605 | SPR | 2 | 0.64503816793893 | 279 | 786 | 73114562-73114730, 73114743-73114749, 73114761-73114863 |
| 606 | ALMS1 | 2 | 0.99008317338452 | 124 | 12504 | 73612997-73613074, 73613084-73613087, 73613160-73613164, 73613277-73613302, 73675742, 73676823, 73676875, 73679586-73679589, 73679599, 73679745-73679747 |
| 607 | SLC4A5 | 2 | 0.99824253075571 | 6 | 3414 | 74460581-74460584, 74513019, 74531616 |
| 608 | DCTN1 | 2 | 0.99061767005473 | 36 | 3837 | 74590479-74590496, 74590514-74590516, 74590528-74590529, 74596523-74596525, 74596529-74596531, 74598124-74598127, 74605327, 74605362-74605363 |
| 609 | MOGS | 2 | 0.9618138424821 | 96 | 2514 | 74689004-74689008, 74692027-74692031, 74692066-74692068, 74692078-74692083, 74692098, 74692101, 74692143-74692164, 74692171-74692205, 74692243, 74692257-74692258, 74692261, 74692267-74692273, 74692355-74692361 |
| 610 | HTRA2 | 2 | 0.85185185185185 | 204 | 1377 | 74757134, 74757186-74757234, 74757262-74757303, 74757332-74757376, 74757387-74757391, 74757436-74757479, 74757527-74757544 |
| 611 | SUCLG1 | 2 | 0.99903938520653 | 1 | 1041 | 84668456 |
| 612 | GGCX | 2 | 0.98462889767238 | 35 | 2277 | 85787989, 85788517-85788550 |
| 613 | SFTPB | 2 | 0.97731239092496 | 26 | 1146 | 85890909, 85895262-85895284, 85895292, 85895295 |
| 614 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
| 615 | EIF2AK3 | 2 | 0.95613249776186 | 147 | 3351 | 88926638-88926655, 88926664-88926792 |
| 616 | RPIA | 2 | 0.99358974358974 | 6 | 936 | 88991293-88991298 |
| 617 | TMEM127 | 2 | 0.81589958158996 | 132 | 717 | 96930883-96930925, 96930962-96930996, 96931007-96931012, 96931019-96931032, 96931039-96931041, 96931066-96931070, 96931077-96931090, 96931095-96931106 |
| 618 | SNRNP200 | 2 | 0.9998440180939 | 1 | 6411 | 96962712 |
| 619 | ZAP70 | 2 | 0.93978494623656 | 112 | 1860 | 98340560-98340564, 98340607-98340613, 98340749-98340754, 98340803-98340884, 98349670-98349675, 98351169-98351172, 98355846, 98355849 |
| 620 | RANBP2 | 2 | 0.98728682170543 | 123 | 9675 | 109336133-109336134, 109347230, 109347802, 109357110-109357116, 109363167-109363200, 109368082-109368110, 109368327-109368341, 109371659, 109378625, 109382787-109382793, 109383051-109383058, 109383268-109383274, 109383315-109383321, 109383357, 109383771, 109399168 |
| 621 | NPHP1 | 2 | 0.99459193706981 | 11 | 2034 | 110917823-110917832, 110919189 |
| 622 | MERTK | 2 | 0.979 | 63 | 3000 | 112656313-112656366, 112786409-112786412, 112786416, 112786420-112786423 |
| 623 | GLI2 | 2 | 0.82818735559756 | 818 | 4761 | 121555022-121555025, 121712960-121712962, 121728146-121728153, 121728172-121728178, 121729620-121729632, 121745820-121745835, 121745988-121745994, 121746002-121746003, 121746017-121746024, 121746083-121746511, 121746542-121746581, 121746609-121746611, 121746625-121746628, 121746634-121746643, 121746651-121746656, 121746693-121746713, 121746790-121746811, 121746822-121746824, 121746840-121746854, 121746953-121746960, 121747024-121747025, 121747058-121747095, 121747117-121747119, 121747183-121747200, 121747246-121747251, 121747321-121747363, 121747402-121747438, 121747470-121747486, 121747492-121747503, 121747655-121747657, 121747661-121747670 |
| 624 | BIN1 | 2 | 0.9668911335578 | 59 | 1782 | 127808378-127808384, 127808397-127808428, 127808785-127808791, 127816625-127816637 |
| 625 | PROC | 2 | 0.88383838383838 | 161 | 1386 | 128178889, 128178893-128178904, 128178920-128178925, 128180508-128180517, 128180610-128180627, 128180637-128180747, 128186095-128186097 |
| 626 | CFC1 | 2 | 0.80059523809524 | 134 | 672 | 131279404, 131280366-131280477, 131280758-131280760, 131280778-131280785, 131285307-131285312, 131285362, 131285378-131285380 |
| 627 | LCT | 2 | 0.99671507607192 | 19 | 5784 | 136567437-136567439, 136567444-136567447, 136575342, 136590687-136590697 |
| 628 | MCM6 | 2 | 0.97769667477697 | 55 | 2466 | 136616947-136616959, 136633881-136633922 |
| 629 | ZEB2 | 2 | 0.97695473251029 | 84 | 3645 | 145147392-145147401, 145161627, 145274845-145274917 |
| 630 | NEB | 2 | 0.99864824271553 | 27 | 19974 | 152402512, 152417740, 152432727, 152432782-152432785, 152432792-152432800, 152486098, 152486105-152486109, 152486118, 152512821-152512824 |
| 631 | CACNB4 | 2 | 0.99936020473448 | 1 | 1563 | 152732984 |
| 632 | SCN2A | 2 | 0.99651046859422 | 21 | 6018 | 166171981-166171990, 166188061-166188064, 166237629-166237632, 166237705-166237707 |
| 633 | SCN1A | 2 | 0.99833249958312 | 10 | 5997 | 166903283-166903284, 166911245-166911252 |
| 634 | SCN9A | 2 | 0.99393326592518 | 36 | 5934 | 167085413, 167089953, 167089958-167089959, 167141064, 167141069-167141070, 167141074-167141076, 167141100-167141106, 167141115, 167141123, 167141131-167141139, 167144971-167144977, 167144981 |
| 635 | SLC25A12 | 2 | 0.99901816396662 | 2 | 2037 | 172725332-172725333 |
| 636 | ITGA6 | 2 | 0.94444444444444 | 182 | 3276 | 173292517-173292698 |
| 637 | CHN1 | 2 | 0.98623188405797 | 19 | 1380 | 175869622-175869640 |
| 638 | HOXD13 | 2 | 0.60852713178295 | 404 | 1032 | 176957619-176957848, 176957858-176957932, 176957938-176958028, 176958043, 176958160, 176958267-176958272 |
| 639 | AGPS | 2 | 0.97673242286292 | 46 | 1977 | 178257582-178257620, 178257714-178257715, 178346859-178346863 |
| 640 | PRKRA | 2 | 0.95010615711253 | 47 | 942 | 179296824, 179296981, 179312278-179312281, 179312288-179312296, 179312305-179312307, 179315704-179315731, 179315742 |
| 641 | DFNB59 | 2 | 0.99622285174693 | 4 | 1059 | 179318291, 179320841-179320843 |
| 642 | TTN | 2 | 0.99931170696672 | 69 | 100248 | 179392321-179392360, 179392405-179392409, 179424094, 179425477-179425481, 179502116, 179510663-179510664, 179523799, 179539111, 179587856-179587859, 179593721, 179650732, 179650837-179650840, 179650847-179650848, 179654173 |
| 643 | NEUROD1 | 2 | 0.98786181139122 | 13 | 1071 | 182542824-182542836 |
| 644 | COL3A1 | 2 | 0.99022949329698 | 43 | 4401 | 189849593, 189861196, 189871663-189871702, 189872616 |
| 645 | COL5A2 | 2 | 0.99488888888889 | 23 | 4500 | 189909936-189909955, 189932796-189932798 |
| 646 | PMS1 | 2 | 0.99964272954627 | 1 | 2799 | 190719085 |
| 647 | MSTN | 2 | 0.9991134751773 | 1 | 1128 | 190926988 |
| 648 | STAT1 | 2 | 0.98490901020861 | 34 | 2253 | 191859883-191859915, 191873727 |
| 649 | HSPD1 | 2 | 0.99767711962834 | 4 | 1722 | 198351840-198351843 |
| 650 | CASP8 | 2 | 0.98082869511441 | 31 | 1617 | 202123009, 202149544, 202149608-202149623, 202149663-202149673, 202149797-202149798 |
| 651 | ALS2 | 2 | 0.99819059107358 | 9 | 4974 | 202569867-202569868, 202571646-202571652 |
| 652 | BMPR2 | 2 | 0.99935835739493 | 2 | 3117 | 203384901-203384902 |
| 653 | NDUFS1 | 2 | 0.99954212454212 | 1 | 2184 | 207018361 |
| 654 | FASTKD2 | 2 | 0.99484294421003 | 11 | 2133 | 207652768-207652774, 207652788, 207652799-207652801 |
| 655 | CPS1 | 2 | 0.99844548079058 | 7 | 4503 | 211460233-211460239 |
| 656 | ABCA12 | 2 | 0.98998459167951 | 78 | 7788 | 215809785, 215809788, 215846947, 215854084-215854134, 215854173-215854181, 215854292-215854298, 215862432-215862439 |
| 657 | SMARCAL1 | 2 | 0.99685863874346 | 9 | 2865 | 217297457-217297465 |
| 658 | PNKD | 2 | 0.98704663212435 | 15 | 1158 | 219204554-219204557, 219204565-219204575 |
| 659 | CYP27A1 | 2 | 0.99937343358396 | 1 | 1596 | 219646924 |
| 660 | WNT10A | 2 | 0.87878787878788 | 152 | 1254 | 219745718-219745722, 219745731-219745757, 219745767-219745788, 219745805, 219757557-219757564, 219757616-219757619, 219757628, 219757633-219757637, 219757642-219757646, 219757705-219757735, 219757867-219757873, 219757893-219757928 |
| 661 | DES | 2 | 0.90799716914367 | 130 | 1413 | 220283238-220283280, 220283286-220283292, 220283330-220283344, 220283395-220283396, 220283404-220283428, 220283472, 220283598-220283605, 220283696-220283724 |
| 662 | OBSL1 | 2 | 0.84027411702688 | 909 | 5691 | 220416269-220416308, 220416370, 220416420-220416424, 220416433-220416443, 220416464-220416465, 220416851-220416877, 220416901-220416907, 220416938, 220417263-220417278, 220417284-220417397, 220417668-220417675, 220417693-220417696, 220417700-220417708, 220423041, 220424042-220424046, 220432922-220432924, 220434995-220435003, 220435208-220435211, 220435256-220435262, 220435289-220435331, 220435354-220435360, 220435370-220435954 |
| 663 | PAX3 | 2 | 0.99538866930171 | 7 | 1518 | 223163263-223163269 |
| 664 | COL4A4 | 2 | 0.99427330173776 | 29 | 5064 | 227942676-227942681, 227942686-227942690, 227942703-227942705, 227968703-227968716, 227968766 |
| 665 | COL4A3 | 2 | 0.99780570516657 | 11 | 5013 | 228029445-228029451, 228029494, 228102700, 228145259-228145260 |
| 666 | SLC19A3 | 2 | 0.99396378269618 | 9 | 1491 | 228563994-228563996, 228564051-228564056 |
| 667 | CHRNG | 2 | 0.97425997425997 | 40 | 1554 | 233405347, 233405355, 233405367-233405376, 233406116, 233406223-233406229, 233409247-233409259, 233409272-233409275, 233409524-233409525, 233409591 |
| 668 | SAG | 2 | 0.99753694581281 | 3 | 1218 | 234243644-234243646 |
| 669 | UGT1A1 | 2 | 0.99937578027466 | 1 | 1602 | 234668953 |
| 670 | COL6A3 | 2 | 0.98867212083071 | 108 | 9534 | 238244872-238244895, 238249097-238249111, 238249299-238249300, 238249304, 238249317-238249321, 238270424-238270425, 238280461-238280465, 238283249, 238283335-238283368, 238283445-238283447, 238283452-238283456, 238287334, 238303560-238303567, 238303577, 238303603 |
| 671 | AGXT | 2 | 0.97540288379983 | 29 | 1179 | 241808283-241808288, 241808292, 241808299-241808304, 241808308, 241808319-241808323, 241808327-241808332, 241808352-241808355 |
| 672 | D2HGDH | 2 | 0.84099616858238 | 249 | 1566 | 242674654-242674689, 242674707-242674731, 242674758-242674760, 242674764, 242674803, 242689591-242689600, 242689683, 242689692-242689693, 242689697-242689701, 242689707-242689709, 242707169-242707200, 242707225-242707250, 242707281-242707384 |
| 673 | C20orf54 | 20 | 0.99858156028369 | 2 | 1410 | 744361, 746184 |
| 674 | IDH3B | 20 | 0.99481865284974 | 6 | 1158 | 2641135-2641140 |
| 675 | AVP | 20 | 0.26262626262626 | 365 | 495 | 3063276-3063448, 3063623-3063814 |
| 676 | PANK2 | 20 | 0.75481611208406 | 420 | 1713 | 3869783-3869826, 3869865-3869995, 3870001-3870065, 3870076-3870082, 3870092-3870182, 3870206-3870231, 3870243-3870298 |
| 677 | PRNP | 20 | 0.99868766404199 | 1 | 762 | 4680152 |
| 678 | JAG1 | 20 | 0.98249931637955 | 64 | 3657 | 10621449, 10621854-10621857, 10623161, 10654105-10654151, 10654168-10654178 |
| 679 | C20orf7 | 20 | 0.99229287090559 | 8 | 1038 | 13782207-13782214 |
| 680 | THBD | 20 | 0.89583333333333 | 180 | 1728 | 23028448-23028449, 23029093, 23029193-23029195, 23029261-23029264, 23029271, 23029280, 23029284-23029296, 23029397-23029405, 23029411-23029412, 23029417-23029419, 23029424-23029428, 23029493-23029495, 23029505-23029510, 23029530-23029548, 23029582, 23029585, 23029588, 23029593-23029596, 23029692-23029729, 23029741-23029743, 23029853-23029856, 23029862, 23029867, 23029872-23029900, 23030047-23030050, 23030056-23030062, 23030076-23030080, 23030085-23030092, 23030101 |
| 681 | SNTA1 | 20 | 0.82740447957839 | 262 | 1518 | 32000152-32000155, 32000425-32000426, 32031151-32031164, 32031168, 32031174-32031184, 32031197-32031426 |
| 682 | GDF5 | 20 | 0.92363877822045 | 115 | 1506 | 34022396-34022401, 34022448, 34025118-34025134, 34025142-34025171, 34025214-34025220, 34025254-34025274, 34025549-34025581 |
| 683 | HNF4A | 20 | 0.9859649122807 | 20 | 1425 | 43030047, 43052756-43052758, 43052775-43052787, 43052797-43052799 |
| 684 | ADA | 20 | 0.95879120879121 | 45 | 1092 | 43255142-43255145, 43255157-43255160, 43257766-43257771, 43257776, 43257782, 43280216-43280244 |
| 685 | CTSA | 20 | 0.97127588510354 | 43 | 1497 | 44520226-44520262, 44520357-44520358, 44523633-44523636 |
| 686 | SLC2A10 | 20 | 0.98831488314883 | 19 | 1626 | 45338376-45338379, 45354887-45354901 |
| 687 | SALL4 | 20 | 0.98134092346616 | 59 | 3162 | 50407020, 50408315-50408327, 50408338-50408342, 50408346-50408350, 50418825-50418858, 50418884 |
| 688 | PCK1 | 20 | 0.99946495452113 | 1 | 1869 | 56137827 |
| 689 | VAPB | 20 | 0.9207650273224 | 58 | 732 | 56964516-56964573 |
| 690 | GNAS | 20 | 0.9579945799458 | 31 | 738 | 57415325-57415355 |
| 691 | GNAS | 20 | 0.84071933204881 | 496 | 3114 | 57428696-57428722, 57428905, 57429066-57429067, 57429092-57429140, 57429316-57429320, 57429381, 57429394, 57429438-57429440, 57429448-57429452, 57429462-57429506, 57429559-57429563, 57429576, 57429592-57429614, 57429625-57429666, 57429699-57429743, 57429837-57429845, 57429851-57429981, 57429997-57430002, 57430045-57430068, 57430075-57430081, 57430108-57430143, 57430247, 57430261-57430269, 57430300, 57430307-57430311, 57430316-57430320, 57430361-57430367 |
| 692 | COL9A3 | 20 | 0.91435523114355 | 176 | 2055 | 61448417-61448494, 61448919-61448977, 61453504-61453505, 61456342-61456354, 61456363-61456373, 61457591-61457597, 61461902-61461907 |
| 693 | CHRNA4 | 20 | 0.91932059447983 | 152 | 1884 | 61981056, 61981071-61981075, 61981088-61981090, 61981246-61981261, 61981588-61981631, 61981648-61981675, 61981703-61981704, 61981941-61981944, 61987406-61987415, 61992449-61992456, 61992460-61992463, 61992471-61992485, 61992487-61992494, 61992500-61992503 |
| 694 | KCNQ2 | 20 | 0.88468881252386 | 302 | 2619 | 62038030, 62038035-62038036, 62038043-62038056, 62038235-62038237, 62038273-62038290, 62038617, 62038677-62038683, 62044852, 62065196-62065202, 62076654-62076667, 62103521-62103535, 62103544-62103563, 62103594-62103746, 62103771-62103816 |
| 695 | SOX18 | 20 | 0.13073593073593 | 1004 | 1155 | 62679521-62679524, 62679539-62679542, 62679619, 62679646-62679654, 62679662, 62679670-62679671, 62679678-62679695, 62679701-62679707, 62679716-62680315, 62680512-62680869 |
| 696 | APP | 21 | 0.98357111975789 | 38 | 2313 | 27542895-27542921, 27542928-27542938 |
| 697 | BACH1 | 21 | 0.98914518317503 | 24 | 2211 | 30701870-30701872, 30715015-30715031, 30715067-30715070 |
| 698 | SOD1 | 21 | 0.94623655913978 | 25 | 465 | 33032083, 33032088-33032111 |
| 699 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
| 700 | RCAN1 | 21 | 0.66798418972332 | 252 | 759 | 35987059-35987310 |
| 701 | RUNX1 | 21 | 0.91545391545392 | 122 | 1443 | 36164432-36164475, 36164508-36164509, 36164513-36164517, 36164599-36164621, 36164702-36164704, 36164708-36164709, 36164715-36164722, 36164762, 36259260-36259264, 36259293-36259321 |
| 702 | CLDN14 | 21 | 0.98333333333333 | 12 | 720 | 37833304-37833311, 37833327, 37833436-37833438 |
| 703 | TMPRSS3 | 21 | 0.9992673992674 | 1 | 1365 | 43810145 |
| 704 | CBS | 21 | 0.9945652173913 | 9 | 1656 | 44480611-44480619 |
| 705 | CSTB | 21 | 0.77777777777778 | 66 | 297 | 45196085-45196150 |
| 706 | AIRE | 21 | 0.72588522588523 | 449 | 1638 | 45705890-45706021, 45706440-45706444, 45706501-45706507, 45706588, 45706905, 45706979-45706985, 45711020-45711034, 45712241, 45712876-45712930, 45712963, 45712966, 45712974-45713058, 45713687, 45713690, 45713696-45713704, 45713715-45713720, 45713726, 45713731-45713735, 45713740, 45713749-45713754, 45713773-45713776, 45713786-45713793, 45714284-45714318, 45714325-45714385 |
| 707 | ITGB2 | 21 | 0.93896103896104 | 141 | 2310 | 46306753-46306754, 46308608-46308698, 46308723-46308745, 46308792-46308810, 46330221-46330226 |
| 708 | COL18A1 | 21 | 0.92516619183286 | 394 | 5265 | 46875468-46875505, 46876362, 46876424-46876427, 46876480-46876484, 46876526, 46876530-46876535, 46876546-46876549, 46876580, 46876648-46876676, 46876706-46876708, 46876720-46876722, 46876742, 46888218-46888238, 46888655-46888657, 46888668, 46888677, 46896331-46896334, 46896363, 46906847-46906848, 46909432-46909434, 46911164-46911182, 46911220-46911228, 46913077-46913078, 46924383-46924385, 46924403-46924408, 46924418, 46924422, 46924434-46924452, 46925056-46925062, 46925079-46925121, 46925293, 46925297, 46925305, 46925308, 46925794-46925820, 46927475-46927477, 46929313-46929316, 46929467-46929474, 46929499-46929504, 46929508-46929511, 46929978-46929980, 46929983, 46930010-46930048, 46930111-46930153, 46932145-46932151, 46932210-46932212 |
| 709 | COL6A1 | 21 | 0.93391642371234 | 204 | 3087 | 47401765-47401818, 47401832-47401846, 47407535-47407538, 47407543-47407549, 47410172-47410191, 47410309-47410336, 47410721-47410724, 47419589-47419606, 47420673-47420681, 47422619-47422624, 47423397-47423404, 47423419-47423432, 47423438-47423443, 47423505-47423507, 47423633-47423640 |
| 710 | COL6A2 | 21 | 0.8983660130719 | 311 | 3060 | 47531391-47531405, 47531413-47531459, 47531895-47531898, 47531910-47531913, 47531997-47532037, 47539752, 47545180-47545225, 47545764-47545782, 47545819-47545864, 47545979-47545983, 47545991, 47545994, 47546088-47546094, 47551910-47551916, 47552007-47552036, 47552062-47552075, 47552082-47552087, 47552280-47552288, 47552389-47552392, 47552455-47552458 |
| 711 | COL6A2 | 21 | 0.92690058479532 | 25 | 342 | 47552280-47552288, 47552389-47552392, 47552455-47552458, 47552474-47552481 |
| 712 | FTCD | 21 | 0.90221402214022 | 159 | 1626 | 47565362-47565369, 47565378-47565425, 47565484-47565492, 47565732-47565780, 47565802, 47565805, 47565834-47565860, 47571603, 47571631, 47574138-47574144, 47574216-47574222 |
| 713 | PCNT | 21 | 0.98092098691439 | 191 | 10011 | 47744143-47744144, 47744166-47744196, 47766686-47766688, 47771425-47771426, 47783737-47783746, 47783793-47783799, 47786645-47786651, 47786656-47786657, 47786661, 47786699-47786701, 47811192-47811194, 47818007-47818017, 47818154-47818156, 47831302-47831305, 47831312, 47831444-47831479, 47832829, 47832832, 47832849-47832850, 47836704-47836725, 47848379-47848385, 47848460-47848461, 47848475-47848479, 47851666, 47852083-47852087, 47855968-47855969, 47855979-47855985, 47858095, 47858213-47858214, 47863832-47863838 |
| 714 | PEX26 | 22 | 0.98257080610022 | 16 | 918 | 18561215-18561219, 18561228-18561238 |
| 715 | PRODH | 22 | 0.82695507487521 | 312 | 1803 | 18904408-18904419, 18904475-18904481, 18905848, 18905864-18905865, 18905975-18905981, 18908865-18908920, 18923528-18923568, 18923609-18923615, 18923622-18923800 |
| 716 | GP1BB | 22 | 0.13526570048309 | 537 | 621 | 19711377-19711390, 19711401-19711441, 19711452-19711516, 19711532-19711874, 19711890-19711897, 19711907-19711972 |
| 717 | TBX1 | 22 | 0.32997311827957 | 997 | 1488 | 19748428-19748803, 19753285-19753348, 19753425-19753525, 19753912-19754232, 19754239-19754373 |
| 718 | SMARCB1 | 22 | 0.926597582038 | 85 | 1158 | 24129357-24129435, 24129444-24129449 |
| 719 | UPB1 | 22 | 0.98008658008658 | 23 | 1155 | 24906768-24906787, 24919641-24919643 |
| 720 | HPS4 | 22 | 0.98674242424242 | 28 | 2112 | 26849224, 26849227, 26849280-26849292, 26849300-26849311, 26859939 |
| 721 | CHEK2 | 22 | 0.97671777399205 | 41 | 1761 | 29083906-29083917, 29083946-29083965, 29085165-29085171, 29120969-29120970 |
| 722 | NF2 | 22 | 0.99888143176734 | 2 | 1788 | 29999988-29999989 |
| 723 | SLC5A1 | 22 | 0.98997493734336 | 20 | 1995 | 32463992-32463999, 32495198-32495203, 32495302-32495307 |
| 724 | TIMP3 | 22 | 0.97955974842767 | 13 | 636 | 33198063-33198066, 33198071-33198072, 33198079, 33198085-33198086, 33198098-33198101 |
| 725 | MYH9 | 22 | 0.99541050484447 | 27 | 5883 | 36685243-36685244, 36688095, 36688109-36688124, 36688131-36688132, 36689433-36689435, 36689834, 36698706, 36708222 |
| 726 | TRIOBP | 22 | 0.96999154691462 | 213 | 7098 | 38109237-38109267, 38119798-38119804, 38119891-38119921, 38120036-38120052, 38120177-38120199, 38120297-38120303, 38120426-38120432, 38122322-38122325, 38122389-38122392, 38122404-38122408, 38122423, 38122448-38122472, 38130459, 38147816-38147835, 38161746, 38161760-38161763, 38161770-38161771, 38161817, 38165150-38165151, 38165158-38165174, 38165179-38165181 |
| 727 | SOX10 | 22 | 0.88436830835118 | 162 | 1401 | 38369504-38369509, 38369616-38369620, 38369817, 38369940-38369953, 38379401-38379406, 38379458, 38379518-38379529, 38379545-38379551, 38379607, 38379657-38379666, 38379672-38379759, 38379768-38379774, 38379788-38379791 |
| 728 | PLA2G6 | 22 | 0.99834779016935 | 4 | 2421 | 38528926-38528928, 38528933 |
| 729 | EP300 | 22 | 0.97694962042788 | 167 | 7245 | 41523538-41523543, 41546099-41546118, 41546128-41546154, 41573777, 41573957-41573967, 41573974-41573981, 41574031-41574044, 41574124-41574132, 41574142-41574209, 41574239, 41574254-41574255 |
| 730 | TNFRSF13C | 22 | 0.64684684684685 | 196 | 555 | 42322120-42322126, 42322130-42322132, 42322141-42322144, 42322214-42322220, 42322230-42322335, 42322642-42322698, 42322704-42322712, 42322765, 42322776-42322777 |
| 731 | CYB5R3 | 22 | 0.9326710816777 | 61 | 906 | 43027391-43027430, 43045301-43045321 |
| 732 | ATXN10 | 22 | 0.93417366946779 | 94 | 1428 | 46067944-46068024, 46068034-46068046 |
| 733 | TRMU | 22 | 0.98104265402844 | 24 | 1266 | 46731703-46731704, 46731711-46731729, 46751374-46751375, 46752821 |
| 734 | ALG12 | 22 | 0.98568507157464 | 21 | 1467 | 50304181-50304183, 50307370-50307387 |
| 735 | MLC1 | 22 | 0.93121693121693 | 78 | 1134 | 50502476-50502511, 50502524-50502526, 50502581-50502619 |
| 736 | SCO2 | 22 | 0.96004993757803 | 32 | 801 | 50962664-50962688, 50962747-50962752, 50962760 |
| 737 | TYMP | 22 | 0.51690821256039 | 700 | 1449 | 50964199-50964203, 50964209-50964340, 50964346-50964347, 50964430-50964570, 50964675-50964905, 50965005-50965061, 50965077-50965106, 50965116-50965141, 50965156-50965167, 50967622-50967628, 50967636-50967637, 50967641-50967646, 50968028-50968032, 50968093-50968136 |
| 738 | ARSA | 22 | 0.8254593175853 | 266 | 1524 | 51063645-51063651, 51063661-51063680, 51063691-51063698, 51063710-51063711, 51063727-51063867, 51064046-51064052, 51064056, 51064058-51064065, 51064072-51064077, 51064088-51064092, 51064103, 51065761-51065765, 51065814-51065819, 51065829-51065834, 51066149-51066173, 51066184-51066201 |
| 739 | SHANK3 | 22 | 0.6651411136537 | 1756 | 5244 | 51113070-51113132, 51113476-51113542, 51113605-51113610, 51117527-51117528, 51117533, 51117751-51117752, 51117762, 51117765-51117767, 51117771, 51133236, 51133240-51133243, 51133356-51133359, 51135705-51135719, 51135951-51136143, 51143168, 51144500-51144505, 51158612-51158626, 51158693-51158698, 51158709-51159342, 51159361-51159385, 51159398-51159490, 51159515-51159518, 51159548, 51159551, 51159578-51159581, 51159603-51159632, 51159705-51159708, 51159777-51159785, 51159828-51159831, 51159965, 51159997-51160002, 51160604, 51160618-51160621, 51169149-51169230, 51169259, 51169263-51169267, 51169273-51169275, 51169288-51169740 |
| 740 | SUMF1 | 3 | 0.99555555555556 | 5 | 1125 | 4458836, 4508714-4508715, 4508835, 4508853 |
| 741 | CAV3 | 3 | 0.98245614035088 | 8 | 456 | 8787515, 8787518, 8787521, 8787531-8787533, 8787536-8787537 |
| 742 | FANCD2 | 3 | 0.99298007246377 | 31 | 4416 | 10088296-10088311, 10088340-10088346, 10107168, 10114941-10114947 |
| 743 | VHL | 3 | 0.90342679127726 | 62 | 642 | 10183586-10183590, 10183702-10183712, 10183806-10183851 |
| 744 | TSEN2 | 3 | 0.99713876967096 | 4 | 1398 | 12544785-12544788 |
| 745 | RAF1 | 3 | 0.9989727786338 | 2 | 1947 | 12660105, 12660108 |
| 746 | WNT7A | 3 | 0.94380952380952 | 59 | 1050 | 13860538-13860565, 13860740-13860749, 13860755, 13860759-13860763, 13860783-13860786, 13921303-13921313 |
| 747 | XPC | 3 | 0.99610343606093 | 11 | 2823 | 14187441-14187450, 14189485 |
| 748 | COLQ | 3 | 0.96637426900585 | 46 | 1368 | 15563068-15563069, 15563075-15563079, 15563094-15563132 |
| 749 | THRB | 3 | 0.9992784992785 | 1 | 1386 | 24169013 |
| 750 | TGFBR2 | 3 | 0.98988195615514 | 18 | 1779 | 30648413, 30648421-30648437 |
| 751 | GLB1 | 3 | 0.96312684365782 | 75 | 2034 | 33138503-33138577 |
| 752 | CRTAP | 3 | 0.69568822553897 | 367 | 1206 | 33155570-33155580, 33155587-33155604, 33155611-33155662, 33155685-33155709, 33155719-33155733, 33155745-33155923, 33155930-33155948, 33155954-33155994, 33156012-33156017, 33156029 |
| 753 | MLH1 | 3 | 0.99911933069133 | 2 | 2271 | 37067345-37067346 |
| 754 | ABHD5 | 3 | 0.95428571428571 | 48 | 1050 | 43732485-43732531, 43744058 |
| 755 | TMIE | 3 | 0.78213507625272 | 100 | 459 | 46742860-46742915, 46742928-46742964, 46743027-46743028, 46743040-46743044 |
| 756 | TMIE | 3 | 0.98513800424628 | 7 | 471 | 46743027-46743028, 46743040-46743044 |
| 757 | MYL3 | 3 | 0.99659863945578 | 2 | 588 | 46900984-46900985 |
| 758 | TREX1 | 3 | 0.97477477477477 | 28 | 1110 | 48508336, 48508412, 48508417, 48508420, 48508426-48508430, 48508451, 48508694-48508696, 48508888-48508902 |
| 759 | COL7A1 | 3 | 0.98811544991511 | 105 | 8835 | 48612857-48612881, 48612906-48612911, 48617469-48617482, 48620042-48620044, 48625269, 48625276, 48625281, 48625303-48625305, 48626762-48626763, 48627036-48627083, 48632566 |
| 760 | LAMB2 | 3 | 0.99240318695572 | 41 | 5397 | 49160341-49160344, 49162560-49162566, 49162799-49162808, 49162884-49162886, 49162902-49162917, 49169125 |
| 761 | AMT | 3 | 0.9983498349835 | 2 | 1212 | 49454995-49454996 |
| 762 | GNAT1 | 3 | 0.82716049382716 | 182 | 1053 | 50229227-50229231, 50231243-50231249, 50231530-50231551, 50231619-50231654, 50232203-50232269, 50232278-50232283, 50232288-50232294, 50232305-50232336 |
| 763 | HYAL1 | 3 | 0.9954128440367 | 6 | 1308 | 50338122, 50338486-50338488, 50338497, 50338504 |
| 764 | RFT1 | 3 | 0.97047970479705 | 48 | 1626 | 53156409-53156419, 53156425, 53156429, 53156434-53156437, 53156529, 53157763-53157792 |
| 765 | TKT | 3 | 0.9417735042735 | 109 | 1872 | 53264544, 53264558, 53289852-53289958 |
| 766 | HESX1 | 3 | 0.98387096774194 | 9 | 558 | 57232250, 57233802-57233809 |
| 767 | FLNB | 3 | 0.9918043283391 | 64 | 7809 | 57994396-57994442, 57994470-57994477, 58116600, 58134038-58134042, 58134519, 58139138, 58145411 |
| 768 | PDHB | 3 | 0.99444444444444 | 6 | 1080 | 58416474-58416475, 58419366-58419367, 58419410-58419411 |
| 769 | ATXN7 | 3 | 0.88548273431994 | 325 | 2838 | 63898275-63898599 |
| 770 | MITF | 3 | 0.98592450415867 | 22 | 1563 | 69788749-69788770 |
| 771 | PROK2 | 3 | 0.82307692307692 | 69 | 390 | 71830705-71830709, 71834122-71834185 |
| 772 | ROBO2 | 3 | 0.99951655789219 | 2 | 4137 | 77530349, 77666814 |
| 773 | GBE1 | 3 | 0.99762920815552 | 5 | 2109 | 81754656-81754657, 81810607-81810609 |
| 774 | PROS1 | 3 | 0.98030526834072 | 40 | 2031 | 93617388-93617394, 93619732, 93692532-93692558, 93692561, 93692568-93692569, 93692572-93692573 |
| 775 | ARL6 | 3 | 0.99286987522282 | 4 | 561 | 97487042-97487045 |
| 776 | CPOX | 3 | 0.84615384615385 | 210 | 1365 | 98311929-98311958, 98311965-98311968, 98312055-98312062, 98312069-98312078, 98312083-98312084, 98312111-98312114, 98312133-98312260, 98312285-98312291, 98312296-98312304, 98312315-98312322 |
| 777 | IQCB1 | 3 | 0.99888703394546 | 2 | 1797 | 121491458, 121547769 |
| 778 | CASR | 3 | 0.97497683039852 | 81 | 3237 | 121976167-121976174, 122003048, 122003109-122003147, 122003287-122003308, 122003325-122003329, 122003488, 122003629-122003633 |
| 779 | UMPS | 3 | 0.997920997921 | 3 | 1443 | 124462762-124462764 |
| 780 | RAB7A | 3 | 0.98557692307692 | 9 | 624 | 128525231-128525234, 128525240, 128525248, 128525259, 128525282-128525283 |
| 781 | ACAD9 | 3 | 0.9962486602358 | 7 | 1866 | 128623311-128623316, 128623320 |
| 782 | GP9 | 3 | 0.84082397003745 | 85 | 534 | 128780877, 128780880-128780881, 128780888-128780918, 128780943-128780965, 128781022-128781043, 128781052-128781057 |
| 783 | RHO | 3 | 0.98949379178606 | 11 | 1047 | 129251380-129251384, 129251388-129251393 |
| 784 | NPHP3 | 3 | 0.92812421738042 | 287 | 3993 | 132409383-132409387, 132409435-132409437, 132438549-132438554, 132438587-132438619, 132438631-132438673, 132440938-132440949, 132441002-132441006, 132441012-132441022, 132441031-132441199 |
| 785 | FOXL2 | 3 | 0.35897435897436 | 725 | 1131 | 138664434-138664455, 138664532, 138664563-138664582, 138664591-138665103, 138665110-138665137, 138665184-138665223, 138665245-138665250, 138665254-138665257, 138665351-138665392, 138665422-138665431, 138665466-138665477, 138665507-138665508, 138665515-138665532, 138665558-138665564 |
| 786 | PLOD2 | 3 | 0.99341238471673 | 15 | 2277 | 145804656-145804669, 145809666 |
| 787 | HPS3 | 3 | 0.99867330016584 | 4 | 3015 | 148847511, 148847516-148847518 |
| 788 | IFT80 | 3 | 0.9995704467354 | 1 | 2328 | 160099336 |
| 789 | BCHE | 3 | 0.99944720840243 | 1 | 1809 | 165491256 |
| 790 | GHSR | 3 | 0.99818346957312 | 2 | 1101 | 172165995-172165996 |
| 791 | SOX2 | 3 | 0.79664570230608 | 194 | 954 | 181430149-181430153, 181430174-181430190, 181430196-181430248, 181430289-181430336, 181430381-181430385, 181430394-181430424, 181430471-181430472, 181430524-181430548, 181430614, 181430720-181430726 |
| 792 | EIF2B5 | 3 | 0.99353647276085 | 14 | 2166 | 183853248-183853251, 183853285, 183853289-183853296, 183853310 |
| 793 | ALG3 | 3 | 0.95899772209567 | 54 | 1317 | 183963013-183963015, 183966607-183966641, 183966656-183966671 |
| 794 | CLCN2 | 3 | 0.99666295884316 | 9 | 2697 | 184072088-184072089, 184075201, 184075429, 184075761, 184075764, 184075773, 184075780-184075781 |
| 795 | CCDC50 | 3 | 0.99240855762595 | 11 | 1449 | 191047464-191047472, 191047487-191047488 |
| 796 | PDE6B | 4 | 0.98791423001949 | 31 | 2565 | 647932-647936, 657640-657659, 663866-663871 |
| 797 | IDUA | 4 | 0.62793068297655 | 730 | 1962 | 980873-980915, 980929-980988, 981645-981679, 981737, 994776-994777, 995516-995525, 995915-995949, 996162-996188, 996224-996273, 996520-996732, 996824-996945, 997133-997209, 997221-997244, 997343-997359, 997887, 998129-998141 |
| 798 | FGFR3 | 4 | 0.88792748248867 | 272 | 2427 | 1795662-1795682, 1795708-1795712, 1801196, 1801199-1801200, 1803113-1803143, 1803216-1803217, 1803347, 1803353-1803359, 1803393-1803403, 1803444-1803447, 1803611, 1803638-1803660, 1804682, 1804688, 1804699-1804704, 1806650-1806660, 1806664, 1807542-1807545, 1808295, 1808350, 1808355-1808364, 1808556-1808560, 1808566-1808578, 1808649-1808656, 1808856-1808863, 1808882-1808930, 1808937-1808945, 1808955-1808989 |
| 799 | SH3BP2 | 4 | 0.88422186322025 | 215 | 1857 | 2819951-2820117, 2826358-2826360, 2826435-2826438, 2831475, 2831550-2831551, 2834744-2834776, 2835502, 2835558-2835561 |
| 800 | HTT | 4 | 0.9692438222505 | 290 | 9429 | 3076553-3076558, 3076569-3076575, 3076585-3076603, 3076604-3076738, 3076745-3076780, 3076797-3076815, 3123057, 3127349, 3149810, 3184108, 3184111, 3208345-3208348, 3213771-3213780, 3213786-3213807, 3234955-3234959, 3237017, 3240314-3240333, 3241645 |
| 801 | DOK7 | 4 | 0.82508250825083 | 265 | 1515 | 3465103-3465156, 3465233-3465278, 3475230-3475256, 3478069-3478088, 3478111-3478119, 3478209-3478212, 3494486-3494495, 3494583-3494589, 3494605-3494628, 3494642-3494651, 3494656-3494667, 3494706-3494709, 3494843-3494866, 3494890-3494893, 3495019-3495028 |
| 802 | DOK7 | 4 | 0.82741116751269 | 102 | 591 | 3494489-3494495, 3494583-3494589, 3494605-3494628, 3494642-3494651, 3494656-3494667, 3494706-3494709, 3494843-3494866, 3494890-3494893, 3495019-3495028 |
| 803 | MSX1 | 4 | 0.61622807017544 | 350 | 912 | 4861627-4861898, 4861935-4861971, 4862018-4862019, 4862024, 4862078-4862080, 4862085-4862094, 4864745-4864759, 4864793-4864801, 4864806 |
| 804 | EVC2 | 4 | 0.9895594601477 | 41 | 3927 | 5570262-5570265, 5570303-5570319, 5578077-5578080, 5578089-5578101, 5710110-5710112 |
| 805 | EVC | 4 | 0.92514266532393 | 223 | 2979 | 5713108-5713270, 5750000-5750006, 5754728-5754736, 5800359-5800381, 5800468, 5809929-5809945, 5809977-5809979 |
| 806 | WFS1 | 4 | 0.96595585484474 | 91 | 2673 | 6302898-6302903, 6303209, 6303324-6303329, 6303453-6303474, 6303526-6303552, 6303874-6303902 |
| 807 | SLC2A9 | 4 | 0.99507085643869 | 8 | 1623 | 9922074-9922075, 9982287, 10020627-10020631 |
| 808 | CC2D2A | 4 | 0.99403660292001 | 29 | 4863 | 15482409-15482437 |
| 809 | PROM1 | 4 | 0.99422632794457 | 15 | 2598 | 15985899-15985900, 15985947-15985955, 15985961, 15985970, 15985977-15985978 |
| 810 | QDPR | 4 | 0.8843537414966 | 85 | 735 | 17513573-17513606, 17513627-17513677 |
| 811 | CNGA1 | 4 | 0.98114035087719 | 43 | 2280 | 47939845-47939846, 47954631-47954644, 47954652-47954658, 47973055, 47973065, 47973070-47973076, 47973090-47973092, 47973098-47973102, 47973115-47973117 |
| 812 | SGCB | 4 | 0.96551724137931 | 33 | 957 | 52904393-52904425 |
| 813 | PDGFRA | 4 | 0.99969418960245 | 1 | 3270 | 55130013 |
| 814 | KIT | 4 | 0.99215284885705 | 23 | 2931 | 55524182-55524196, 55524240-55524246, 55602726 |
| 815 | SLC4A4 | 4 | 0.99969558599696 | 1 | 3285 | 72306442 |
| 816 | ALB | 4 | 0.99890710382514 | 2 | 1830 | 74274372-74274373 |
| 817 | COQ2 | 4 | 0.8952380952381 | 121 | 1155 | 84205704-84205743, 84205758-84205761, 84205765-84205773, 84205793-84205796, 84205808-84205810, 84205865-84205916, 84205926-84205934 |
| 818 | CDS1 | 4 | 0.98556998556999 | 20 | 1386 | 85504614, 85555045-85555052, 85555059-85555062, 85560145, 85569768, 85569775-85569779 |
| 819 | PKD2 | 4 | 0.82800137598899 | 500 | 2907 | 88928886-88929365, 88929385-88929387, 88929392-88929403, 88929417-88929419, 88929427, 88983116 |
| 820 | SNCA | 4 | 0.97399527186761 | 11 | 423 | 90756698-90756708 |
| 821 | MANBA | 4 | 0.98598484848485 | 37 | 2640 | 103610745, 103611838-103611840, 103681996-103682028 |
| 822 | CISD2 | 4 | 0.8921568627451 | 44 | 408 | 103808498-103808522, 103808569-103808587 |
| 823 | TACR3 | 4 | 0.97925608011445 | 29 | 1398 | 104640739-104640767 |
| 824 | CFI | 4 | 0.98687214611872 | 23 | 1752 | 110723105-110723127 |
| 825 | PITX2 | 4 | 0.99384615384615 | 6 | 975 | 111539440, 111542392, 111542411-111542413, 111542420 |
| 826 | ANK2 | 4 | 0.99755768906855 | 29 | 11874 | 114179489, 114179504-114179505, 114179518-114179539, 114213643, 114213647, 114223945, 114253205 |
| 827 | BBS7 | 4 | 0.99860335195531 | 3 | 2148 | 122775895-122775897 |
| 828 | MFSD8 | 4 | 0.99229287090559 | 12 | 1557 | 128859948-128859951, 128859959, 128859963-128859969 |
| 829 | NR3C2 | 4 | 0.9989847715736 | 3 | 2955 | 149075975-149075977 |
| 830 | CTSO | 4 | 0.88405797101449 | 112 | 966 | 156863545-156863585, 156863592-156863608, 156874946-156874999 |
| 831 | GLRB | 4 | 0.98527443105756 | 22 | 1494 | 158041712-158041726, 158041738-158041744 |
| 832 | GK | 4 | 0.97713598074609 | 38 | 1662 | 166199426-166199445, 166199512-166199518, 166199600-166199610 |
| 833 | SLC25A4 | 4 | 0.87625418060201 | 111 | 897 | 186064527-186064637 |
| 834 | SDHA | 5 | 0.94235588972431 | 115 | 1995 | 218471-218523, 218529-218533, 224630-224636, 231111-231115, 233692-233694, 236556, 251466-251472, 254571-254602, 256509, 256514 |
| 835 | SLC6A19 | 5 | 0.98635170603675 | 26 | 1905 | 1213621-1213644, 1213663, 1213677 |
| 836 | TERT | 5 | 0.84436598999706 | 529 | 3399 | 1279518-1279524, 1280368, 1280371, 1293586, 1293630, 1294084-1294104, 1294249-1294250, 1294260-1294269, 1294273-1294276, 1294327-1294342, 1294479-1294490, 1294501-1294503, 1294518-1294520, 1294554-1294781, 1294886-1295104 |
| 837 | SLC6A3 | 5 | 0.97745571658615 | 42 | 1863 | 1414806-1414807, 1414837-1414869, 1422080-1422086 |
| 838 | SDHA | 5 | 0.81345565749235 | 61 | 327 | 1593386, 1594510-1594569 |
| 839 | CCT5 | 5 | 0.99938499384994 | 1 | 1626 | 10261752 |
| 840 | DNAH5 | 5 | 0.9845045045045 | 215 | 13875 | 13810216-13810254, 13810268-13810269, 13810301-13810325, 13810338-13810365, 13868100-13868101, 13871034-13871047, 13894831, 13894894, 13901479, 13901482, 13916465-13916564, 13919439 |
| 841 | ANKH | 5 | 0.97498309668695 | 37 | 1479 | 14871461-14871497 |
| 842 | FAM134B | 5 | 0.84002677376171 | 239 | 1494 | 16475086, 16616777-16616822, 16616833-16616843, 16616856-16616883, 16616895-16616914, 16616932, 16616949-16617080 |
| 843 | SLC45A2 | 5 | 0.99686126804771 | 5 | 1593 | 33984567-33984568, 33984573-33984575 |
| 844 | AMACR | 5 | 0.96431679721497 | 41 | 1149 | 33998782, 34007912-34007941, 34007975, 34007985, 34007991-34007996, 34008004, 34008007 |
| 845 | NIPBL | 5 | 0.99393939393939 | 51 | 8415 | 37022408-37022409, 37036538-37036540, 37036580-37036589, 37048629-37048635, 37048660-37048681, 37048687, 37048696, 37048706-37048709, 37048767 |
| 846 | GHR | 5 | 0.99947835159103 | 1 | 1917 | 42718969 |
| 847 | ITGA2 | 5 | 0.99689791314157 | 11 | 3546 | 52285328-52285338 |
| 848 | ERCC8 | 5 | 0.94122586062133 | 70 | 1191 | 60186759, 60200642-60200656, 60200662-60200665, 60240775-60240824 |
| 849 | SMN2 | 5 | 0.97401129943503 | 23 | 885 | 69359242-69359247, 69362945-69362961 |
| 850 | SMN2 | 5 | 0.97401129943503 | 23 | 885 | 70234666-70234671, 70238369-70238385 |
| 851 | HEXB | 5 | 0.88569718731299 | 191 | 1671 | 73981094-73981158, 73981179-73981183, 73981218-73981259, 73981266-73981306, 73981343-73981380 |
| 852 | AP3B1 | 5 | 0.9972602739726 | 9 | 3285 | 77437051, 77523971, 77523986, 77563397-77563402 |
| 853 | ARSB | 5 | 0.80524344569288 | 312 | 1602 | 78280760-78281071 |
| 854 | VCAN | 5 | 0.99970562260818 | 3 | 10191 | 82868252-82868253, 82868375 |
| 855 | RASA1 | 5 | 0.94147582697201 | 184 | 3144 | 86564538-86564547, 86564549-86564553, 86564559-86564573, 86564784, 86564794, 86669980-86669989, 86669996-86670137 |
| 856 | MEF2C | 5 | 0.99789029535865 | 3 | 1422 | 88057110-88057112 |
| 857 | GPR98 | 5 | 0.99445061043285 | 105 | 18921 | 89854713-89854714, 89854730-89854734, 89981636-89981672, 89981681-89981687, 90021430, 90070025, 90074339-90074344, 90124874, 90144573-90144612, 90144638, 90149965-90149968 |
| 858 | WDR36 | 5 | 0.98739495798319 | 36 | 2856 | 110436335-110436368, 110448773-110448774 |
| 859 | APC | 5 | 0.99988279418659 | 1 | 8532 | 112111326 |
| 860 | HSD17B4 | 5 | 0.99683401175938 | 7 | 2211 | 118814535-118814537, 118814548, 118814573, 118835073, 118861716 |
| 861 | HSD17B4 | 5 | 0.99645390070922 | 1 | 282 | 118861716 |
| 862 | ALDH7A1 | 5 | 0.99938271604938 | 1 | 1620 | 125904043 |
| 863 | LMNB1 | 5 | 0.88813174332765 | 197 | 1761 | 126113201-126113233, 126113259-126113263, 126113272-126113291, 126113322, 126113359-126113364, 126113380-126113511 |
| 864 | FBN2 | 5 | 0.98386543082733 | 141 | 8739 | 127614462-127614475, 127641281, 127645740-127645746, 127645756-127645800, 127873055-127873058, 127873067-127873072, 127873077-127873088, 127873123-127873129, 127873152-127873189, 127873210-127873216 |
| 865 | SLC22A5 | 5 | 0.9378733572282 | 104 | 1674 | 131705719, 131705789-131705807, 131705823-131705855, 131705883-131705916, 131705945-131705961 |
| 866 | TGFBI | 5 | 0.98927875243665 | 22 | 2052 | 135364770-135364774, 135364841-135364857 |
| 867 | MYOT | 5 | 0.99665998663995 | 5 | 1497 | 137206571-137206572, 137222951, 137223002-137223003 |
| 868 | SIL1 | 5 | 0.998556998557 | 2 | 1386 | 138282890, 138282894 |
| 869 | MATR3 | 5 | 0.97995283018868 | 51 | 2544 | 138651792-138651814, 138658481-138658482, 138658504-138658528, 138658542 |
| 870 | SRA1 | 5 | 0.9887482419128 | 8 | 711 | 139931629-139931636 |
| 871 | DIAPH1 | 5 | 0.95967530767217 | 154 | 3819 | 140953166, 140953267-140953292, 140953381-140953418, 140953446-140953484, 140953503-140953509, 140953531-140953536, 140953551, 140953563-140953591, 140953667-140953673 |
| 872 | POU4F3 | 5 | 0.95280235988201 | 48 | 1017 | 145719116-145719156, 145719322-145719325, 145719554, 145719559-145719560 |
| 873 | PPP2R2B | 5 | 0.99174174174174 | 11 | 1332 | 146077656-146077666 |
| 874 | SPINK5 | 5 | 0.99969558599696 | 1 | 3285 | 147503507 |
| 875 | ADRB2 | 5 | 0.99114331723027 | 11 | 1242 | 148206457-148206462, 148206586, 148207025, 148207633-148207635 |
| 876 | TCOF1 | 5 | 0.99977043158861 | 1 | 4356 | 149748427 |
| 877 | GM2A | 5 | 0.97079037800687 | 17 | 582 | 150632820-150632828, 150639406-150639412, 150646961 |
| 878 | NIPAL4 | 5 | 0.96716630977873 | 46 | 1401 | 156887225-156887270 |
| 879 | NKX2-5 | 5 | 0.91076923076923 | 87 | 975 | 172659731-172659737, 172659906-172659917, 172660050-172660058, 172660126-172660135, 172660182-172660197, 172661867-172661893, 172661903-172661908 |
| 880 | MSX2 | 5 | 0.85696517412935 | 115 | 804 | 174151697-174151737, 174151778-174151795, 174151855-174151900, 174151911-174151920 |
| 881 | F12 | 5 | 0.94158075601375 | 34 | 582 | 176830255-176830274, 176830311-176830324 |
| 882 | F12 | 5 | 0.92424242424242 | 140 | 1848 | 176830255-176830274, 176830311-176830324, 176830503-176830513, 176830559, 176830882-176830885, 176830912-176830944, 176830967-176830973, 176831016-176831027, 176831048-176831065, 176831251-176831257, 176831261, 176831347, 176831560-176831568, 176836519, 176836524 |
| 883 | PROP1 | 5 | 0.9985315712188 | 1 | 681 | 177419748 |
| 884 | NHP2 | 5 | 0.9978354978355 | 1 | 462 | 177580736 |
| 885 | GRM6 | 5 | 0.81473044798785 | 488 | 2634 | 178413861-178413871, 178413974-178413979, 178415975-178416004, 178416011-178416015, 178416020-178416030, 178421492, 178421507-178421553, 178421569-178421945 |
| 886 | SQSTM1 | 5 | 0.86394557823129 | 180 | 1323 | 179247937-179247959, 179247969-179248005, 179248016-179248130, 179248137-179248141 |
| 887 | FLT4 | 5 | 0.94990224828935 | 205 | 4092 | 180038336-180038345, 180043373-180043375, 180045793-180045828, 180045885-180045920, 180046035-180046037, 180046340-180046366, 180046759-180046769, 180047187-180047199, 180048769, 180051051-180051056, 180057709, 180076488-180076545 |
| 888 | FOXC1 | 6 | 0.26955475330927 | 1214 | 1662 | 1610704-1610739, 1610750-1610925, 1610948-1610954, 1611044-1611050, 1611066-1611117, 1611135-1611209, 1611240-1611241, 1611265-1612061, 1612067-1612101, 1612120-1612125, 1612149-1612160, 1612167-1612168, 1612173-1612178, 1612310 |
| 889 | TUBB2B | 6 | 0.92077727952167 | 106 | 1338 | 3225149-3225161, 3225167-3225169, 3225185-3225192, 3225235-3225239, 3225255, 3225267, 3225392-3225394, 3225400, 3225405, 3225410-3225421, 3225442-3225475, 3225508-3225515, 3225601-3225605, 3227721-3227731 |
| 890 | DSP | 6 | 0.99883936861653 | 10 | 8616 | 7542167-7542168, 7542307-7542311, 7578020, 7585975, 7585986 |
| 891 | TFAP2A | 6 | 0.97488584474886 | 33 | 1314 | 10398804-10398809, 10398816-10398822, 10404748-10404760, 10410339-10410342, 10410426, 10410435, 10410536 |
| 892 | DTNBP1 | 6 | 0.94791666666667 | 55 | 1056 | 15533473-15533474, 15627618-15627626, 15663057-15663100 |
| 893 | ATXN1 | 6 | 0.91952614379085 | 197 | 2448 | 16327394-16327399, 16327461, 16327504-16327535, 16327599-16327611, 16327635-16327643, 16327831-16327959, 16328019-16328025 |
| 894 | NHLRC1 | 6 | 0.9983164983165 | 2 | 1188 | 18122672, 18122678 |
| 895 | ALDH5A1 | 6 | 0.89860352155434 | 167 | 1647 | 24495284-24495298, 24495334-24495364, 24495382-24495397, 24495421-24495428, 24495437-24495445, 24495466-24495475, 24495498-24495574, 24502814 |
| 896 | HLA-H | 6 | 0.74933333333333 | 188 | 750 | 29855777-29855780, 29855784, 29855800, 29855817-29855883, 29855931-29855937, 29855944-29855945, 29855975-29855981, 29855996-29856001, 29856293-29856310, 29856343-29856380, 29856404-29856405, 29856423-29856431, 29856436-29856443, 29856513-29856519, 29856535, 29856539, 29856543, 29856546, 29856562-29856568 |
| 897 | TNXB | 6 | 0.92120269569725 | 152 | 1929 | 31976913-31976929, 31977163-31977170, 31977388-31977394, 31977545-31977551, 31977786-31977792, 31977994-31978001, 31978498-31978517, 31979415-31979423, 31979439-31979483, 31979519-31979528, 31979626-31979639 |
| 898 | CYP21A2 | 6 | 0.92271505376344 | 115 | 1488 | 32006210-32006256, 32007404-32007410, 32008448-32008454, 32008689-32008693, 32008728-32008761, 32008865-32008877, 32008889-32008890 |
| 899 | TNXB | 6 | 0.98397360358237 | 204 | 12729 | 32009135-32009141, 32009648-32009664, 32009899-32009905, 32010123-32010129, 32010268-32010289, 32010520-32010526, 32010728-32010735, 32011900-32011906, 32012270-32012277, 32012293-32012336, 32012373-32012382, 32012480-32012486, 32063935, 32064082, 32064116-32064130, 32064314-32064327, 32064336-32064342, 32064558-32064562, 32064569-32064574, 32064653-32064656 |
| 900 | HLA-DQA1 | 6 | 0.65755208333333 | 263 | 768 | 32605236-32605237, 32605261-32605262, 32609091-32609108, 32609119-32609126, 32609147-32609153, 32609160-32609162, 32609167-32609169, 32609181, 32609195, 32609199, 32609207-32609279, 32609299, 32609308-32609315, 32609749, 32609809-32609817, 32609848-32609877, 32610433-32610465, 32610475-32610517, 32610523-32610541 |
| 901 | HLA-DQB1 | 6 | 0.33333333333333 | 524 | 786 | 32629137, 32629161-32629170, 32629189-32629202, 32629227-32629228, 32629746-32629806, 32629822-32629833, 32629844-32629891, 32629904-32629910, 32629929-32629938, 32632575-32632813, 32632820-32632844, 32634285-32634377, 32634383-32634384 |
| 902 | COL11A2 | 6 | 0.9773555939359 | 118 | 5211 | 33140079-33140081, 33140108-33140155, 33140331-33140337, 33140351-33140393, 33141678-33141685, 33141944, 33143384, 33159998-33160004 |
| 903 | SYNGAP1 | 6 | 0.87599206349206 | 500 | 4032 | 33388042-33388108, 33393575-33393680, 33405744, 33405831, 33405834, 33410893, 33410899-33410933, 33410946, 33410950, 33410985-33410991, 33411037-33411043, 33411316-33411319, 33411344-33411349, 33411389-33411393, 33411441-33411490, 33411505-33411698, 33411721-33411723, 33419609-33419611, 33419654-33419660 |
| 904 | FANCE | 6 | 0.93358162631906 | 107 | 1611 | 35420323-35420407, 35420495-35420509, 35420554-35420560 |
| 905 | TULP1 | 6 | 0.9963167587477 | 6 | 1629 | 35479971-35479975, 35480025 |
| 906 | PEX6 | 6 | 0.9524294937139 | 140 | 2943 | 42946258, 42946443-42946444, 42946448, 42946456-42946465, 42946489-42946497, 42946508-42946526, 42946553-42946557, 42946590-42946602, 42946624, 42946627-42946631, 42946639-42946641, 42946647-42946666, 42946676-42946702, 42946732-42946739, 42946797-42946799, 42946804, 42946818-42946824, 42946829-42946833 |
| 907 | CUL7 | 6 | 0.99725328624681 | 14 | 5097 | 43008344, 43008347, 43008376-43008383, 43016157, 43016162, 43016167-43016168 |
| 908 | RSPH9 | 6 | 0.86883273164862 | 109 | 831 | 43612836-43612864, 43612898, 43612904-43612917, 43612939-43612953, 43612967-43612998, 43613011-43613015, 43613024, 43613027, 43613044-43613054 |
| 909 | RUNX2 | 6 | 0.89272030651341 | 168 | 1566 | 45390345-45390346, 45390349-45390378, 45390384-45390396, 45390404-45390526 |
| 910 | MUT | 6 | 0.9751442521083 | 56 | 2253 | 49403269-49403317, 49409645-49409651 |
| 911 | PKHD1 | 6 | 0.99770961145194 | 28 | 12225 | 51484039-51484059, 51929821-51929827 |
| 912 | EYS | 6 | 0.99798622151563 | 19 | 9435 | 66005885-66005891, 66200541-66200545, 66204575-66204581 |
| 913 | LMBRD1 | 6 | 0.98890942698706 | 18 | 1623 | 70410761, 70490427, 70506706, 70506729, 70506760-70506773 |
| 914 | COL9A1 | 6 | 0.99963846710051 | 1 | 2766 | 70981388 |
| 915 | RIMS1 | 6 | 0.94683992911991 | 270 | 5079 | 72596742-72596774, 72889477-72889490, 72892030-72892031, 72892056, 72892129-72892134, 72892270-72892273, 72892277, 72892300-72892390, 72892397-72892420, 72892429-72892450, 72892474-72892478, 72892484-72892489, 72892511, 72892515-72892524, 72892696-72892704, 73001701-73001702, 73108758-73108796 |
| 916 | SLC17A5 | 6 | 0.93682795698925 | 94 | 1488 | 74363516-74363609 |
| 917 | MYO6 | 6 | 0.99585277345775 | 16 | 3858 | 76558139-76558153, 76623806 |
| 918 | LCA5 | 6 | 0.99952244508118 | 1 | 2094 | 80196848 |
| 919 | SLC35A1 | 6 | 0.99506903353057 | 5 | 1014 | 88182729-88182733 |
| 920 | SIM1 | 6 | 0.99956540634507 | 1 | 2301 | 100897257 |
| 921 | PDSS2 | 6 | 0.96833333333333 | 38 | 1200 | 107531754, 107780210-107780213, 107780273-107780301, 107780311-107780314 |
| 922 | SEC63 | 6 | 0.9592641261498 | 93 | 2283 | 108243103-108243106, 108279090-108279097, 108279110-108279114, 108279125-108279180, 108279194-108279213 |
| 923 | OSTM1 | 6 | 0.85671641791045 | 144 | 1005 | 108375781-108375789, 108395577, 108395603-108395636, 108395714-108395715, 108395719-108395724, 108395735-108395771, 108395780-108395802, 108395824-108395855 |
| 924 | FIG4 | 6 | 0.99816446402349 | 5 | 2724 | 110053840-110053844 |
| 925 | COL10A1 | 6 | 0.99461576113558 | 11 | 2043 | 116441745-116441750, 116442360, 116442370-116442373 |
| 926 | GJA1 | 6 | 0.99564838990426 | 5 | 1149 | 121769110, 121769113-121769115, 121769120 |
| 927 | LAMA2 | 6 | 0.99583466837552 | 39 | 9363 | 129513906-129513907, 129513911-129513916, 129635899, 129635902, 129670505-129670510, 129670515-129670529, 129674418, 129674421, 129674425, 129691087-129691088, 129691119, 129775371-129775372 |
| 928 | ENPP1 | 6 | 0.95176385889129 | 134 | 2778 | 132129176-132129245, 132129261-132129267, 132129282-132129306, 132129367-132129372, 132172374, 132203494, 132203497, 132203537-132203548, 132203554-132203561, 132203568-132203570 |
| 929 | EYA4 | 6 | 0.99895833333333 | 2 | 1920 | 133777756-133777757 |
| 930 | PEX7 | 6 | 0.88374485596708 | 113 | 972 | 137143804-137143868, 137143886-137143933 |
| 931 | PEX3 | 6 | 0.9982174688057 | 2 | 1122 | 143792105-143792106 |
| 932 | STX11 | 6 | 0.91550925925926 | 73 | 864 | 144507802, 144507807-144507814, 144507927, 144507990-144507997, 144508103-144508147, 144508371-144508377, 144508437-144508439 |
| 933 | EPM2A | 6 | 0.72791164658635 | 271 | 996 | 145956560, 146056334-146056603 |
| 934 | IYD | 6 | 0.94022988505747 | 52 | 870 | 150719223-150719265, 150719309-150719317 |
| 935 | SYNE1 | 6 | 0.99568083655376 | 114 | 26394 | 152451865, 152454563-152454568, 152485362-152485363, 152485374-152485375, 152485389-152485428, 152532670-152532674, 152540144, 152540149-152540159, 152540167-152540168, 152545736-152545745, 152545786-152545799, 152614799, 152631567, 152644686-152644687, 152644696, 152644701, 152644709-152644715, 152644719-152644724, 152702395 |
| 936 | PARK2 | 6 | 0.98283261802575 | 24 | 1398 | 161969939-161969943, 161969947-161969949, 161969952-161969955, 161969959-161969968, 162622248-162622249 |
| 937 | TBP | 6 | 0.87647058823529 | 126 | 1020 | 170871010-170871135 |
| 938 | LFNG | 7 | 0.61052631578947 | 444 | 1140 | 2559496-2559901, 2564365-2564377, 2564875-2564897, 2565110, 2565113 |
| 939 | PMS2 | 7 | 0.99111626110467 | 23 | 2589 | 6013046-6013052, 6026905-6026911, 6027002, 6038811, 6045523-6045529 |
| 940 | TWIST1 | 7 | 0.43349753694581 | 345 | 609 | 19156416-19156419, 19156428-19156430, 19156477-19156481, 19156546-19156555, 19156561-19156587, 19156640-19156707, 19156717-19156944 |
| 941 | DNAH11 | 7 | 0.99506336575302 | 67 | 13572 | 21582963-21582966, 21583047-21583052, 21583153-21583197, 21630581-21630584, 21630602-21630603, 21630637, 21630919-21630922, 21939662 |
| 942 | DFNA5 | 7 | 0.99195171026157 | 12 | 1491 | 24742432-24742436, 24749911-24749914, 24758800, 24758803, 24758810 |
| 943 | HOXA1 | 7 | 0.9890873015873 | 11 | 1008 | 27134162, 27135335-27135340, 27135413-27135415, 27135418 |
| 944 | HOXA13 | 7 | 0.55955441302485 | 514 | 1167 | 27239054-27239059, 27239077-27239101, 27239109-27239118, 27239189-27239194, 27239202-27239205, 27239218-27239238, 27239255-27239696 |
| 945 | GARS | 7 | 0.99009009009009 | 22 | 2220 | 30634680-30634683, 30634697-30634714 |
| 946 | GHRHR | 7 | 0.99921383647799 | 1 | 1272 | 31009565 |
| 947 | RP9 | 7 | 0.77177177177177 | 152 | 666 | 33148833-33148984 |
| 948 | BBS9 | 7 | 0.99962462462462 | 1 | 2664 | 33313511 |
| 949 | GLI3 | 7 | 0.93674889310563 | 300 | 4743 | 42004685-42004689, 42004820-42004822, 42005068-42005106, 42005115-42005127, 42005177-42005195, 42005214-42005256, 42005313-42005318, 42005528-42005534, 42005546-42005613, 42005628-42005643, 42005663-42005687, 42005840, 42005849-42005861, 42005867-42005883, 42005896-42005897, 42005946-42005963, 42006052-42006055, 42065848 |
| 950 | PGAM2 | 7 | 0.99081364829396 | 7 | 762 | 44104976-44104982 |
| 951 | GCK | 7 | 0.95431834403997 | 64 | 1401 | 44185216-44185220, 44185227, 44185236, 44186062-44186095, 44186103-44186125 |
| 952 | CCM2 | 7 | 0.97303370786517 | 36 | 1335 | 45039933-45039962, 45113126-45113131 |
| 953 | DDC | 7 | 0.996534996535 | 5 | 1443 | 50597002-50597006 |
| 954 | GRB10 | 7 | 0.99887955182073 | 2 | 1785 | 50682497-50682498 |
| 955 | EGFR | 7 | 0.97357555739059 | 96 | 3633 | 55086971-55087058, 55220279-55220282, 55220289-55220290, 55220296, 55220300 |
| 956 | GUSB | 7 | 0.99897750511247 | 2 | 1956 | 65439348-65439349 |
| 957 | ASL | 7 | 0.94623655913978 | 75 | 1395 | 65551627-65551630, 65553816, 65553883-65553908, 65554078-65554079, 65554107-65554140, 65554263-65554270 |
| 958 | KCTD7 | 7 | 0.83448275862069 | 144 | 870 | 66094052-66094195 |
| 959 | NCF1 | 7 | 0.89818181818182 | 84 | 825 | 72639983-72639989, 72640033-72640039, 72643608-72643648, 72643704-72643710, 72648672, 72648730-72648750 |
| 960 | ELN | 7 | 0.96459770114943 | 77 | 2175 | 73442518-73442519, 73442530-73442580, 73462861, 73466278-73466297, 73477663-73477665 |
| 961 | NCF1 | 7 | 0.78260869565217 | 255 | 1173 | 74193665-74193671, 74193757-74193763, 74197289-74197329, 74202352, 74202421-74202432, 74202903-74202954, 74202965-74202971, 74202995-74203048, 74203385, 74203402-74203474 |
| 962 | POR | 7 | 0.9632892804699 | 75 | 2043 | 75609719-75609724, 75614230-75614240, 75614242-75614246, 75614444-75614470, 75614488-75614511, 75614910-75614911 |
| 963 | HSPB1 | 7 | 0.76051779935275 | 148 | 618 | 75932068, 75932181-75932183, 75932189-75932190, 75932195-75932216, 75932235-75932242, 75932247-75932258, 75932269-75932277, 75932285-75932321, 75932338-75932391 |
| 964 | HGF | 7 | 0.99039780521262 | 21 | 2187 | 81399267-81399287 |
| 965 | AKAP9 | 7 | 0.99761173660867 | 28 | 11724 | 91609624-91609647, 91630444, 91682154, 91690711, 91736727 |
| 966 | KRIT1 | 7 | 0.99819086386251 | 4 | 2211 | 91852145-91852148 |
| 967 | PEX1 | 7 | 0.99221183800623 | 30 | 3852 | 92157625-92157636, 92157647-92157664 |
| 968 | COL1A2 | 7 | 0.97512801755669 | 102 | 4101 | 94049548-94049575, 94049933-94049955, 94052289, 94052391-94052421, 94052427, 94056500-94056516, 94056583 |
| 969 | SGCE | 7 | 0.98451327433628 | 21 | 1356 | 94252649-94252662, 94259041-94259047 |
| 970 | SLC25A13 | 7 | 0.99556868537666 | 9 | 2031 | 95813620-95813622, 95951254-95951259 |
| 971 | TFR2 | 7 | 0.94430590191189 | 134 | 2406 | 100224516-100224526, 100224956-100224986, 100225020-100225026, 100229445-100229448, 100230655-100230676, 100230686-100230694, 100230903-100230904, 100231048, 100231105-100231106, 100238640-100238665, 100238712-100238715, 100238800-100238801, 100239101, 100239121-100239132 |
| 972 | RELN | 7 | 0.99633805531464 | 38 | 10377 | 103234912, 103244831-103244838, 103244881-103244884, 103244890-103244900, 103244907-103244911, 103417008, 103629741-103629744, 103629800-103629803 |
| 973 | SLC26A4 | 7 | 0.98762270593257 | 29 | 2343 | 107302112-107302117, 107323647-107323668, 107323966 |
| 974 | SLC26A3 | 7 | 0.99694989106754 | 7 | 2295 | 107432371-107432376, 107432381 |
| 975 | DLD | 7 | 0.9921568627451 | 12 | 1530 | 107556068-107556069, 107556078-107556087 |
| 976 | IFRD1 | 7 | 0.95132743362832 | 66 | 1356 | 112090786-112090833, 112102132-112102139, 112102148-112102149, 112102196-112102202, 112112911 |
| 977 | CFTR | 7 | 0.97164078325456 | 126 | 4443 | 117180239, 117188716-117188753, 117188760-117188800, 117188842-117188853, 117235006-117235007, 117235054-117235057, 117251725-117251729, 117251740-117251745, 117251792-117251796, 117251799-117251802, 117251805, 117251808, 117251813-117251818 |
| 978 | AASS | 7 | 0.99856166846458 | 4 | 2781 | 121769452, 121769519-121769521 |
| 979 | IMPDH1 | 7 | 0.88 | 216 | 1800 | 128034943-128034947, 128035062, 128035066-128035070, 128036662-128036667, 128045821-128045846, 128045854-128045874, 128045890-128045897, 128045905, 128045919, 128049510, 128049518-128049524, 128049810-128049824, 128049837-128049955 |
| 980 | FLNC | 7 | 0.97493274639276 | 205 | 8178 | 128470692-128470737, 128470753-128470765, 128470784-128470788, 128470826-128470835, 128470853-128470893, 128470904-128470908, 128471008-128471027, 128477264-128477300, 128482321, 128482327, 128482651-128482653, 128487915, 128489398-128489401, 128489597-128489598, 128494262-128494270, 128498187-128498193 |
| 981 | ATP6V0A4 | 7 | 0.99365834324217 | 16 | 2523 | 138394389-138394391, 138394481-138394487, 138437402, 138437409-138437411, 138437415-138437416 |
| 982 | BRAF | 7 | 0.97479356801391 | 58 | 2301 | 140434518-140434521, 140434570, 140494197-140494199, 140624366-140624371, 140624393-140624422, 140624490-140624503 |
| 983 | PRSS1 | 7 | 0.89516129032258 | 78 | 744 | 142458414-142458440, 142458508-142458529, 142459664-142459682, 142459831-142459833, 142460366-142460372 |
| 984 | CLCN1 | 7 | 0.99292214357937 | 21 | 2967 | 143047472-143047492 |
| 985 | CNTNAP2 | 7 | 0.99724724724725 | 11 | 3996 | 145813975-145813985 |
| 986 | KCNH2 | 7 | 0.72701149425287 | 950 | 3480 | 150644101-150644142, 150644416-150644455, 150644462-150644471, 150644505, 150644511-150644513, 150644554-150644566, 150644590-150644602, 150644694-150644827, 150644845-150644851, 150644926, 150644929, 150645547-150645554, 150645565-150645566, 150645571-150645572, 150645603, 150645606, 150645610, 150645613-150645615, 150648789-150648795, 150648875-150648910, 150648922-150648923, 150654524-150654531, 150655147-150655165, 150655213-150655531, 150655545-150655552, 150671838-150672029, 150674926-150675001 |
| 987 | PRKAG2 | 7 | 0.95789473684211 | 72 | 1710 | 151329155-151329224, 151573605-151573606 |
| 988 | SHH | 7 | 0.56659467242621 | 602 | 1389 | 155595594-155596115, 155596131-155596154, 155596200-155596213, 155596339-155596343, 155596384-155596420 |
| 989 | MNX1 | 7 | 0.27943615257048 | 869 | 1206 | 156798214-156798417, 156798454-156798481, 156798528-156798549, 156799261-156799271, 156799291-156799293, 156802372-156802405, 156802414-156802416, 156802436-156802473, 156802497-156802512, 156802515-156802545, 156802566-156803044 |
| 990 | CLN8 | 8 | 0.9883855981417 | 10 | 861 | 1719537-1719539, 1728661-1728667 |
| 991 | MCPH1 | 8 | 0.99441786283892 | 14 | 2508 | 6299596-6299602, 6478975-6478976, 6478986-6478990 |
| 992 | GATA4 | 8 | 0.63431151241535 | 486 | 1329 | 11565838-11565897, 11565903-11565926, 11565978, 11565988-11566003, 11566013-11566016, 11566029-11566035, 11566041-11566379, 11566394-11566422, 11614523-11614528 |
| 993 | TUSC3 | 8 | 0.98949379178606 | 11 | 1047 | 15397973-15397979, 15398020-15398023 |
| 994 | ASAH1 | 8 | 0.97979797979798 | 24 | 1188 | 17928861, 17928868, 17941494-17941511, 17941517-17941520 |
| 995 | SFTPC | 8 | 0.96296296296296 | 22 | 594 | 22020952-22020956, 22021409-22021418, 22021472-22021478 |
| 996 | NEFL | 8 | 0.9203431372549 | 130 | 1632 | 24813043-24813044, 24813159-24813165, 24813230-24813237, 24813239, 24813246, 24813250-24813258, 24813404-24813438, 24813522-24813529, 24813569-24813574, 24813579-24813585, 24813644-24813651, 24813659-24813668, 24813684-24813711 |
| 997 | CHRNA2 | 8 | 0.97295597484277 | 43 | 1590 | 27320606-27320609, 27320746-27320749, 27320866, 27320869, 27320873-27320882, 27320986-27320989, 27321027, 27321030-27321032, 27321038-27321039, 27321050-27321061, 27321073 |
| 998 | ESCO2 | 8 | 0.99889258028793 | 2 | 1806 | 27660944-27660945 |
| 999 | FGFR1 | 8 | 0.99715793747462 | 7 | 2463 | 38271158-38271159, 38287326-38287330 |
| 1000 | ADAM9 | 8 | 0.99512195121951 | 12 | 2460 | 38854668-38854679 |
| 1001 | ANK1 | 8 | 0.97629083245522 | 135 | 5694 | 41525857-41525863, 41530252, 41530255, 41548043-41548045, 41550361-41550362, 41550380, 41552189-41552192, 41566441-41566447, 41575661, 41575664, 41583444-41583446, 41753879-41753915, 41753923-41753961, 41753971-41753998 |
| 1002 | HGSNAT | 8 | 0.92924528301887 | 135 | 1908 | 42995640-42995757, 43025807-43025821, 43025834, 43047533 |
| 1003 | CHD7 | 8 | 0.98610184567489 | 125 | 8994 | 61654454-61654464, 61654471, 61654478, 61654482-61654486, 61654502-61654509, 61654551, 61654712, 61713071-61713077, 61734356-61734392, 61734404-61734410, 61734463-61734479, 61734583-61734591, 61734598-61734604, 61734684, 61734694, 61778278-61778288 |
| 1004 | TTPA | 8 | 0.82795698924731 | 144 | 837 | 63998399-63998424, 63998437-63998508, 63998527-63998534, 63998543-63998580 |
| 1005 | CYP7B1 | 8 | 0.96383957922419 | 55 | 1521 | 65527653-65527660, 65711072-65711078, 65711083-65711089, 65711098-65711130 |
| 1006 | EYA1 | 8 | 0.99943788645306 | 1 | 1779 | 72129008 |
| 1007 | CA2 | 8 | 0.95657726692209 | 34 | 783 | 86376311-86376344 |
| 1008 | CNGB3 | 8 | 0.99876543209877 | 3 | 2430 | 87590957-87590959 |
| 1009 | NBN | 8 | 0.99470198675497 | 12 | 2265 | 90996761-90996772 |
| 1010 | TMEM67 | 8 | 0.98929049531459 | 32 | 2988 | 94777686-94777692, 94777807-94777812, 94777831-94777844, 94784858, 94811914-94811917 |
| 1011 | GDF6 | 8 | 0.67982456140351 | 438 | 1368 | 97156901-97156905, 97156977, 97157126-97157189, 97157199-97157284, 97157344-97157350, 97157354-97157363, 97157368, 97157406-97157579, 97157641-97157660, 97172676-97172681, 97172779-97172783, 97172811-97172831, 97172883-97172920 |
| 1012 | VPS13B | 8 | 0.99591462397866 | 49 | 11994 | 100050658, 100123345-100123348, 100123391-100123397, 100123401, 100123406-100123419, 100123459-100123463, 100454807, 100831031, 100831038-100831045, 100831053-100831054, 100874122, 100880581-100880584 |
| 1013 | RRM2B | 8 | 0.9905303030303 | 10 | 1056 | 103251088-103251097 |
| 1014 | DPYS | 8 | 0.90833333333333 | 143 | 1560 | 105478904-105478910, 105478931-105478976, 105478983-105479007, 105479019-105479068, 105479098, 105479102-105479107, 105479111, 105479120-105479126 |
| 1015 | TRPS1 | 8 | 0.9994851994852 | 2 | 3885 | 116599473-116599474 |
| 1016 | TNFRSF11B | 8 | 0.99751243781095 | 3 | 1206 | 119964050-119964052 |
| 1017 | KCNQ3 | 8 | 0.93241695303551 | 177 | 2619 | 133492429-133492432, 133492505-133492511, 133492559-133492596, 133492620-133492625, 133492632-133492637, 133492664-133492779 |
| 1018 | TG | 8 | 0.99410136029854 | 49 | 8307 | 133881997-133882002, 133882008, 133882019, 133882025-133882026, 133882032-133882037, 133920568-133920585, 134031849, 134034270-134034276, 134125757-134125763 |
| 1019 | NDRG1 | 8 | 0.96118143459916 | 46 | 1185 | 134251153-134251156, 134251161-134251163, 134274296-134274334 |
| 1020 | SLURP1 | 8 | 0.97435897435897 | 8 | 312 | 143822633-143822640 |
| 1021 | CYP11B1 | 8 | 0.95634920634921 | 66 | 1512 | 143956396-143956399, 143957175-143957215, 143958513-143958533 |
| 1022 | CYP11B2 | 8 | 0.88293650793651 | 177 | 1512 | 143993946-143994003, 143994026-143994032, 143994069-143994096, 143994226-143994227, 143994275, 143994279, 143994748-143994754, 143994797-143994822, 143996536-143996559, 143998608-143998630 |
| 1023 | PLEC | 8 | 0.71732479544646 | 3973 | 14055 | 144990364-144990398, 144990460, 144990476-144990495, 144990508-144990516, 144990587-144990592, 144990746-144990749, 144990798-144990807, 144991039-144991047, 144991866-144991870, 144991970-144991975, 144991984, 144991998-144992005, 144992010, 144992013, 144992145, 144992250-144992255, 144992268-144992270, 144992351-144992381, 144992388-144992426, 144992582-144992597, 144992685-144992694, 144992702, 144992705, 144992792-144992851, 144992899-144992903, 144992982, 144993058-144993073, 144993078, 144993197-144993198, 144993371-144993379, 144993508-144993514, 144993518-144993522, 144993527-144993533, 144993592-144993602, 144993619-144993620, 144993624-144993629, 144993635-144993648, 144993682, 144993686-144993689, 144993695-144993745, 144993761-144993765, 144993771-144993772, 144993795-144993855, 144993920-144993958, 144994067-144994070, 144994152-144994195, 144994306, 144994358-144994367, 144994371-144994376, 144994385-144994431, 144994479-144994483, 144994574, 144994580-144994581, 144994587-144994591, 144994604, 144994608-144994609, 144994807-144994822, 144994963-144994969, 144994980-144995015, 144995040-144995079, 144995089-144995093, 144995161-144995183, 144995342-144995367, 144995386-144995397, 144995459-144995507, 144995639-144995645, 144995667-144995715, 144995749-144995754, 144995774-144995845, 144995900-144995943, 144995964, 144996037-144996056, 144996130-144996136, 144996192-144996205, 144996235-144996265, 144996317-144996355, 144996364-144996405, 144996473-144996486, 144996520-144996541, 144996548-144996563, 144996673-144996695, 144996721, 144996763-144996767, 144996772, 144996774-144996776, 144996783-144996785, 144996837-144996840, 144996880-144996899, 144996992-144997019, 144997078-144997108, 144997143-144997147, 144997255-144997258, 144997408-144997416, 144997435-144997482, 144997492-144997496, 144997501-144997503, 144997507-144997512, 144997516-144997524, 144997606-144997613, 144997622-144997676, 144997685-144997694, 144997736-144997781, 144997825-144997941, 144997968-144998001, 144998027-144998060, 144998073-144998107, 144998181-144998203, 144998209-144998221, 144998228-144998250, 144998259-144998388, 144998397-144998409, 144998414-144998420, 144998444-144998476, 144998492-144998507, 144998529-144998558, 144998570-144998603, 144998611-144998660, 144998672-144998692, 144998710-144998741, 144998789, 144998794-144998806, 144998812, 144998817-144998824, 144998849-144999022, 144999046-144999097, 144999108-144999124, 144999129-144999133, 144999139-144999144, 144999168-144999213, 144999222-144999268, 144999278-144999319, 144999327-144999345, 144999354-144999384, 144999400-144999419, 144999439-144999478, 144999521-144999526, 144999538-144999623, 144999641-144999657, 144999696-144999704, 144999726-144999771, 144999780-144999814, 144999820-144999843, 144999850-144999889, 144999982-144999995, 145000003-145000010, 145000018, 145000027-145000052, 145001186-145001203, 145001496-145001503, 145001595-145001596, 145001703-145001715, 145001730-145001736, 145001742-145001775, 145001802-145001805, 145001822-145001847, 145001891-145001896, 145003302-145003313, 145003321-145003356, 145003379-145003418, 145003582-145003611, 145003629-145003678, 145003723-145003729, 145003814-145003835, 145003841, 145003859, 145003865-145003882, 145003896-145003899, 145003929-145003934, 145003939-145003952, 145003963-145003992, 145004104-145004109, 145004312-145004355, 145004362-145004397, 145004580-145004589, 145004599-145004606, 145004610-145004613, 145004628-145004631, 145005702-145005726, 145006141-145006200, 145006298-145006306, 145006317-145006341, 145006379-145006397, 145006568-145006571, 145006667-145006686, 145006709-145006714, 145006803-145006812, 145007026-145007052, 145007065-145007091, 145007110-145007115, 145007153-145007160, 145007179, 145007380-145007421, 145007500-145007503, 145008166-145008194, 145008207-145008216, 145008244-145008259, 145009085-145009097, 145009406, 145024352-145024354, 145024361-145024380, 145024523-145024529, 145024535-145024536, 145024583-145024586, 145024722-145024728, 145024840-145024841 |
| 1024 | GPT | 8 | 0.71227364185111 | 429 | 1491 | 145730630-145730651, 145730715-145730762, 145730773-145730791, 145730871-145730872, 145731243-145731247, 145731255-145731310, 145731388-145731410, 145731441-145731490, 145731511-145731514, 145731665-145731694, 145731700-145731738, 145731748-145731757, 145731884-145731929, 145731958-145731980, 145731995-145732039, 145732147, 145732159, 145732167-145732171 |
| 1025 | RECQL4 | 8 | 0.88558036945134 | 415 | 3627 | 145737909-145737915, 145738475-145738478, 145738493, 145738497-145738506, 145738519-145738521, 145738601-145738602, 145738715-145738721, 145738729-145738768, 145738770-145738773, 145738783-145738812, 145738862-145738864, 145738977-145738999, 145739067-145739087, 145739318-145739340, 145740379-145740382, 145741780, 145742441, 145742446, 145742456-145742462, 145742554-145742569, 145742574, 145742798-145742855, 145742863-145742892, 145742986-145743019, 145743085-145743168 |
| 1026 | DOCK8 | 9 | 0.98365079365079 | 103 | 6300 | 214977-215029, 382562-382568, 382575-382577, 382581-382584, 433974-433975, 452051-452084 |
| 1027 | VLDLR | 9 | 0.97520976353928 | 65 | 2622 | 2622190-2622223, 2622235-2622264, 2622271 |
| 1028 | KCNV2 | 9 | 0.84554334554335 | 253 | 1638 | 2717991-2718036, 2718208-2718213, 2718337-2718353, 2718390-2718415, 2718432-2718474, 2718567-2718569, 2718595-2718604, 2718725-2718769, 2718782-2718790, 2718931-2718943, 2718949-2718955, 2718964-2718991 |
| 1029 | GLIS3 | 9 | 0.94020766201217 | 167 | 2793 | 4117842-4117843, 4117957-4117965, 4118019-4118096, 4118195-4118211, 4118288-4118328, 4118342-4118348, 4118375-4118387 |
| 1030 | JAK2 | 9 | 0.99264489555752 | 25 | 3399 | 5066759-5066763, 5066774-5066775, 5077472-5077475, 5077487-5077490, 5077513-5077518, 5090455-5090458 |
| 1031 | GLDC | 9 | 0.9709435194254 | 89 | 3063 | 6645350-6645357, 6645361-6645365, 6645377-6645392, 6645404-6645410, 6645425, 6645433-6645484 |
| 1032 | CDKN2A | 9 | 0.98089171974522 | 9 | 471 | 21974702, 21974762-21974768, 21974772 |
| 1033 | CDKN2A | 9 | 0.95402298850575 | 24 | 522 | 21994197, 21994204-21994213, 21994221-21994227, 21994295-21994300 |
| 1034 | TOPORS | 9 | 0.9955385595921 | 14 | 3138 | 32550926-32550934, 32550938, 32550953-32550956 |
| 1035 | APTX | 9 | 0.98931000971817 | 11 | 1029 | 32973551-32973561 |
| 1036 | B4GALT1 | 9 | 0.93984962406015 | 72 | 1197 | 33166756-33166757, 33166968-33166992, 33167099-33167143 |
| 1037 | GALT | 9 | 0.97543859649123 | 28 | 1140 | 34646732-34646735, 34646738, 34646744-34646749, 34646755-34646771 |
| 1038 | VCP | 9 | 0.99958694754234 | 1 | 2421 | 35059134 |
| 1039 | FANCG | 9 | 0.99732477260567 | 5 | 1869 | 35075022-35075024, 35078297, 35079493 |
| 1040 | TPM2 | 9 | 0.99883040935673 | 1 | 855 | 35685292 |
| 1041 | NPR2 | 9 | 0.99141221374046 | 27 | 3144 | 35792580-35792581, 35792594-35792601, 35792606-35792607, 35792613-35792616, 35792676, 35792685-35792688, 35793031, 35806418-35806422 |
| 1042 | GRHPR | 9 | 0.98074974670719 | 19 | 987 | 37422790-37422798, 37424853-37424862 |
| 1043 | FXN | 9 | 0.84044233807267 | 101 | 633 | 71650716-71650774, 71650788-71650794, 71650819-71650826, 71650832-71650841, 71650847-71650863 |
| 1044 | TMC1 | 9 | 0.99912395970215 | 2 | 2283 | 75369747, 75369750 |
| 1045 | TRPM6 | 9 | 0.99934091283572 | 4 | 6069 | 77377964-77377967 |
| 1046 | VPS13A | 9 | 0.9961154855643 | 37 | 9525 | 79840845-79840853, 79897038, 79897133-79897137, 79908385-79908388, 79908411-79908419, 79931196-79931202, 79933156, 79934499 |
| 1047 | AUH | 9 | 0.97647058823529 | 24 | 1020 | 94123987-94123994, 94124002-94124004, 94124034-94124042, 94124053-94124055, 94124112 |
| 1048 | ROR2 | 9 | 0.97351694915254 | 75 | 2832 | 94486174, 94495605-94495612, 94495715-94495716, 94712177-94712227, 94712233-94712245 |
| 1049 | PTCH1 | 9 | 0.94659300184162 | 232 | 4344 | 98209520, 98209658-98209659, 98268689-98268748, 98268789-98268793, 98268852-98268881, 98270475-98270487, 98270501-98270505, 98270509-98270537, 98270557-98270643 |
| 1050 | FOXE1 | 9 | 0.12745098039216 | 979 | 1122 | 100616197-100616294, 100616303-100616656, 100616666-100617025, 100617033-100617190, 100617197-100617203, 100617281, 100617284 |
| 1051 | TGFBR1 | 9 | 0.93584656084656 | 97 | 1512 | 101867488-101867584 |
| 1052 | ALG2 | 9 | 0.98880895283773 | 14 | 1251 | 101983917-101983927, 101984051, 101984061-101984062 |
| 1053 | INVS | 9 | 0.99968730456535 | 1 | 3198 | 103046743 |
| 1054 | FKTN | 9 | 0.99134199134199 | 12 | 1386 | 108370217-108370219, 108370231, 108380351-108380358 |
| 1055 | DFNB31 | 9 | 0.90859030837004 | 249 | 2724 | 117240859-117240860, 117240863-117240864, 117240877, 117240885-117240886, 117266693-117266706, 117266734-117266738, 117266777-117266783, 117266789, 117266793, 117266799, 117266809-117266817, 117266837-117266906, 117266914-117266996, 117267013-117267049, 117267064-117267077 |
| 1056 | CDK5RAP2 | 9 | 0.99718409010912 | 16 | 5682 | 123169369, 123170726-123170729, 123171422-123171424, 123171429-123171433, 123301418-123301420 |
| 1057 | GSN | 9 | 0.96466581524053 | 83 | 2349 | 124062174-124062256 |
| 1058 | NR5A1 | 9 | 0.83621933621934 | 227 | 1386 | 127245153-127245183, 127255331-127255333, 127255404-127255410, 127255415-127255417, 127262854, 127262858-127262862, 127262867-127262870, 127265358, 127265367-127265375, 127265398-127265425, 127265433-127265481, 127265491-127265499, 127265573-127265601, 127265619-127265660, 127265669-127265674 |
| 1059 | LMX1B | 9 | 0.76318141197498 | 265 | 1119 | 129376840, 129376844-129376845, 129376858, 129376862-129376867, 129377662-129377821, 129377831-129377848, 129453212-129453213, 129455544-129455560, 129456045-129456091, 129458143-129458146, 129458155-129458159, 129458164-129458165 |
| 1060 | STXBP1 | 9 | 0.97958057395143 | 37 | 1812 | 130374683-130374719 |
| 1061 | ENG | 9 | 0.95245321193728 | 94 | 1977 | 130587160-130587163, 130587170-130587174, 130587544, 130587582-130587583, 130587631-130587634, 130588015-130588040, 130588064-130588066, 130588075-130588076, 130588080-130588089, 130616583-130616605, 130616616-130616629 |
| 1062 | GLE1 | 9 | 0.98330948974726 | 35 | 2097 | 131267109-131267116, 131267127-131267139, 131267154-131267162, 131267167-131267169, 131267182-131267183 |
| 1063 | DOLK | 9 | 0.97959183673469 | 33 | 1617 | 131708939-131708942, 131709038, 131709221-131709224, 131709418-131709426, 131709440-131709441, 131709513-131709517, 131709522-131709525, 131709538-131709541 |
| 1064 | TOR1A | 9 | 0.85985985985986 | 140 | 999 | 132586187-132586242, 132586277-132586360 |
| 1065 | POMT1 | 9 | 0.98163452708907 | 40 | 2178 | 134382807-134382812, 134394321, 134394799-134394819, 134394824-134394828, 134397455-134397461 |
| 1066 | SETX | 9 | 0.99589245705751 | 33 | 8034 | 135139846-135139850, 135139862-135139863, 135139867-135139868, 135139874-135139885, 135139890-135139896, 135139915-135139918, 135140189 |
| 1067 | TTF1 | 9 | 0.99852832965416 | 4 | 2718 | 135276846-135276849 |
| 1068 | TSC1 | 9 | 0.99427753934192 | 20 | 3495 | 135771933-135771937, 135771987-135772001 |
| 1069 | CEL | 9 | 0.83531483927785 | 374 | 2271 | 135937446-135937455, 135944192-135944198, 135944521-135944527, 135946487-135946493, 135946527-135946534, 135946648-135946967, 135946981-135946995 |
| 1070 | SURF1 | 9 | 0.88261351052049 | 106 | 903 | 136223124-136223175, 136223276-136223329 |
| 1071 | ADAMTS13 | 9 | 0.93837535014006 | 264 | 4284 | 136293754-136293891, 136295060-136295095, 136295166-136295190, 136301986, 136302000-136302007, 136302033-136302045, 136302056, 136302059, 136310932, 136320633, 136321745-136321783 |
| 1072 | DBH | 9 | 0.99838187702265 | 3 | 1854 | 136522278-136522279, 136523527 |
| 1073 | SARDH | 9 | 0.96227783822996 | 104 | 2757 | 136535743-136535752, 136568109-136568114, 136582557-136582577, 136597562-136597574, 136597661-136597665, 136597680-136597720, 136599234, 136599263-136599264, 136599291-136599295 |
| 1074 | COL5A1 | 9 | 0.9778865325358 | 122 | 5517 | 137534034-137534142, 137642705, 137686950-137686951, 137705844, 137705849-137705851, 137716512-137716515, 137726864, 137726982 |
| 1075 | LHX3 | 9 | 0.80976013234078 | 230 | 1209 | 139089275-139089276, 139089286, 139089289, 139089295-139089298, 139089354-139089359, 139089509-139089510, 139090648-139090654, 139090664-139090666, 139090754-139090771, 139090777-139090905, 139091549-139091553, 139094809-139094837, 139094845-139094867 |
| 1076 | INPP5E | 9 | 0.75245478036176 | 479 | 1935 | 139325454-139325461, 139326278-139326279, 139326302-139326316, 139326325-139326330, 139327010-139327016, 139327020-139327021, 139327700-139327707, 139327712, 139328583-139328584, 139329284, 139333060-139333070, 139333132-139333173, 139333180-139333215, 139333296-139333351, 139333439-139333449, 139333458-139333518, 139333532-139333536, 139333578-139333604, 139333613-139333620, 139333627-139333631, 139333636, 139333644-139333652, 139333675-139333683, 139333700-139333714, 139333721-139333731, 139333752-139333871 |
| 1077 | NOTCH1 | 9 | 0.89293166405842 | 821 | 7668 | 139390599, 139390602, 139390846-139390856, 139390914-139390934, 139390952-139390988, 139390996-139391034, 139391059-139391062, 139391068-139391071, 139391263-139391301, 139391311-139391352, 139391400-139391407, 139391504-139391557, 139391706-139391712, 139391730-139391834, 139391869-139391902, 139391941-139391984, 139395031-139395049, 139395092-139395106, 139395214-139395215, 139395219-139395226, 139395238, 139395245, 139395249-139395252, 139396261-139396265, 139396275-139396277, 139396287-139396288, 139396825-139396857, 139399181-139399217, 139399261-139399264, 139399394-139399396, 139399523-139399527, 139400002, 139400005, 139400221-139400226, 139400262-139400301, 139400328-139400330, 139402720, 139402745, 139402749-139402751, 139403352-139403353, 139403359-139403368, 139403392-139403399, 139407473-139407475, 139407493-139407511, 139407871, 139411736-139411738, 139411789-139411792, 139411801-139411816, 139411827-139411828, 139411834-139411835, 139417561-139417605, 139440182-139440238 |
| 1078 | AGPAT2 | 9 | 0.70848267622461 | 244 | 837 | 139571070-139571072, 139571076, 139571440-139571469, 139571875, 139571922-139571964, 139581635-139581639, 139581649-139581809 |
| 1079 | SLC34A3 | 9 | 0.70611111111111 | 529 | 1800 | 140127045-140127047, 140127118, 140127239, 140127242, 140127456-140127461, 140127668-140127677, 140127689-140127724, 140127792-140127803, 140127835-140127842, 140128085-140128088, 140128126-140128132, 140128148-140128174, 140128315-140128384, 140128566-140128624, 140128634-140128662, 140128690-140128696, 140128868-140128889, 140128896-140128928, 140128938-140128971, 140129128-140129133, 140129139-140129141, 140130444, 140130520, 140130523, 140130567-140130610, 140130676-140130680, 140130713, 140130727-140130754, 140130770-140130812, 140130843-140130868 |
| 1080 | EHMT1 | 9 | 0.97254298178086 | 107 | 3897 | 140513481-140513501, 140605442-140605455, 140611078-140611110, 140611430-140611440, 140611445, 140637823-140637824, 140728829-140728830, 140728835, 140728845, 140729269-140729285, 140729292-140729293, 140729302, 140729309 |
| 1081 | SHOX | X | 0.90216154721274 | 86 | 879 | 595427-595450, 595465, 595547-595561, 605239-605284 |
| 1082 | CSF2RA | X | 0.99616858237548 | 5 | 1305 | 1422191-1422195 |
| 1083 | KAL1 | X | 0.97014194811552 | 61 | 2043 | 8699983-8700019, 8700054-8700077 |
| 1084 | GPR143 | X | 0.92862745098039 | 91 | 1275 | 9733619-9733665, 9733691-9733734 |
| 1085 | RPS6KA3 | X | 0.99775078722447 | 5 | 2223 | 20179831-20179835 |
| 1086 | SMS | X | 0.95549500454133 | 49 | 1101 | 21958943-21958991 |
| 1087 | ARX | X | 0.75014801657786 | 422 | 1689 | 25025267, 25025294-25025307, 25031216-25031222, 25031275-25031287, 25031352-25031390, 25031407-25031415, 25031428-25031497, 25031544-25031812 |
| 1088 | RPGR | X | 0.92165365712634 | 271 | 3459 | 38145349-38145396, 38145403-38145462, 38145474-38145483, 38145503-38145655 |
| 1089 | BCOR | X | 0.99867122247532 | 7 | 5268 | 39923616-39923622 |
| 1090 | NYX | X | 0.649377593361 | 507 | 1446 | 41332744-41332746, 41332820-41332825, 41332833-41333210, 41333228-41333254, 41333272-41333280, 41333430-41333479, 41333513-41333546 |
| 1091 | SYN1 | X | 0.8342776203966 | 351 | 2118 | 47433506-47433520, 47433529-47433535, 47433559-47433566, 47433613-47433659, 47433677-47433808, 47433816-47433840, 47433897-47433949, 47434115-47434123, 47478818-47478849, 47478999-47479013, 47479112-47479119 |
| 1092 | CFP | X | 0.97730496453901 | 32 | 1410 | 47485741-47485748, 47488934-47488942, 47488975, 47488988-47489001 |
| 1093 | WAS | X | 0.97945659377071 | 31 | 1509 | 48547187-48547191, 48547196-48547207, 48547234-48547242, 48547382-48547383, 48547387-48547389 |
| 1094 | FGD1 | X | 0.999306999307 | 2 | 2886 | 54494287, 54497145 |
| 1095 | AR | X | 0.94788273615635 | 144 | 2763 | 66765145-66765231, 66765573-66765578, 66766353-66766357, 66766367-66766412 |
| 1096 | DLG3 | X | 0.99755501222494 | 6 | 2454 | 69665116-69665121 |
| 1097 | MED12 | X | 0.99020508111417 | 64 | 6534 | 70338611-70338617, 70338638-70338671, 70338681-70338703 |
| 1098 | TAF1 | X | 0.97254487856389 | 156 | 5682 | 70586165-70586318, 70617108-70617109 |
| 1099 | SLC16A2 | X | 0.96036916395223 | 73 | 1842 | 73641356-73641390, 73641400-73641413, 73641466-73641474, 73641485-73641489, 73641616-73641620, 73641684-73641688 |
| 1100 | BRWD3 | X | 0.99426881124053 | 31 | 5409 | 80064940-80064970 |
| 1101 | PCDH19 | X | 0.98971566848155 | 34 | 3306 | 99663554-99663587 |
| 1102 | HPRT1 | X | 0.95890410958904 | 27 | 657 | 133594342-133594368 |
| 1103 | SLC9A6 | X | 0.95489078822412 | 95 | 2106 | 135067838-135067917, 135067937-135067951 |
| 1104 | ZIC3 | X | 0.88817663817664 | 157 | 1404 | 136648964-136648970, 136648981-136649015, 136651068-136651177, 136651220-136651224 |
| 1105 | SOX3 | X | 0.55480984340045 | 597 | 1341 | 139585893-139586018, 139586029-139586107, 139586114-139586135, 139586145-139586191, 139586212-139586368, 139586381-139586395, 139586416-139586485, 139586498-139586533, 139586631-139586637, 139586846-139586865, 139586927-139586936, 139587212-139587219 |
| 1106 | FAM58A | X | 0.95510204081633 | 33 | 735 | 152864467-152864480, 152864483-152864495, 152864516-152864521 |
| 1107 | SLC6A8 | X | 0.85953878406709 | 268 | 1908 | 152954030-152954291, 152959835-152959840 |
| 1108 | ABCD1 | X | 0.97721179624665 | 51 | 2238 | 152991097-152991103, 153008473-153008486, 153008675-153008688, 153008705-153008711, 153008981-153008987, 153009149, 153009152 |
| 1109 | L1CAM | X | 0.99655537890832 | 13 | 3774 | 153136627-153136631, 153141271-153141278 |
| 1110 | MECP2 | X | 0.94455577822311 | 83 | 1497 | 153296202-153296222, 153363061-153363122 |
| 1111 | OPN1LW | X | 0.95342465753425 | 51 | 1095 | 153409779-153409795, 153418521-153418544, 153420049-153420058 |
| 1112 | OPN1MW | X | 0.87214611872146 | 140 | 1095 | 153448191-153448218, 153448278, 153453337-153453343, 153453446-153453453, 153453458-153453465, 153453474-153453495, 153455586, 153455590, 153455598, 153455651-153455676, 153457179-153457188, 153457286-153457309, 153458921-153458923 |
| 1113 | OPN1MW | X | 0.81461187214612 | 203 | 1095 | 153485309-153485336, 153485396, 153490455-153490461, 153490564-153490571, 153490576-153490583, 153490592-153490613, 153492701-153492719, 153492768-153492810, 153494297-153494306, 153494404-153494427, 153496039-153496041, 153496057, 153496071-153496074, 153496100-153496109, 153496117-153496124, 153496195-153496201 |
| 1114 | FLNA | X | 0.98439073514602 | 124 | 7944 | 153599253-153599288, 153599377-153599410, 153599418-153599424, 153599447-153599478, 153599582-153599588, 153599606-153599613 |
| 1115 | EMD | X | 0.99477124183007 | 4 | 765 | 153607893-153607896 |
| 1116 | GDI1 | X | 0.98958333333333 | 14 | 1344 | 153665632-153665645 |
| 1117 | G6PD | X | 0.9981684981685 | 3 | 1638 | 153760603-153760605 |
| 1118 | IKBKG | X | 0.95765027322404 | 62 | 1464 | 153788642-153788687, 153788732-153788747 |
| 1119 | USP9Y | Y | 0.9972613458529 | 21 | 7668 | 14890082-14890095, 14890106-14890112 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 3 | MYO1A-G662E | het unknown | 0.026 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 2 | SLC2A4-V383I | het unknown | 0.004 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown |
| 2 | SP110-M523T | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-L425S | homozygous | 0.863 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-G299R | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-E207K | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-A128V | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-W112R | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | C3-P314L | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | C3-R102G | het unknown | 0.152 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | TP53-P72R | homozygous | 0.628 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview |
| 1.5 | EDNRB-Y293Shift | het unknown | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1.5 | PRNP-M129V | het unknown | 0.340 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | MTHFR-A222V | homozygous | 0.272 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 1.5 | PIGR-A580V | het unknown | 0.248 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 1.5 | PIGR-T555I | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.949 (probably damaging) |
| 1.25 | FUT2-W154* | het unknown | 0.491 | Recessive protective | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 1.25 | FUT2-G258S | het unknown | 0.509 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.954 (probably damaging) |
| 1.25 | ABCA4-S2255I | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.25 | ABCA4-G1961E | het unknown | 0.003 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 1.25 | ABCA4-H423R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.25 | COL7A1-P2847Shift | het unknown | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1.25 | COL7A1-R2835H | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-N453S | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-V432L | homozygous | 0.445 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DEFB126-Q55Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | DEFB126-P106Shift | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CYP2D6-C296R | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CYP2D6-P34S | homozygous | 0.187 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | CC2D2A-E229Del | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ALG1L2-L157Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | IL13-Q144R | homozygous | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | GABRG2-I215V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | TNXB-R48P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | OPRM1-N40D | homozygous | 0.096 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | OPRM1-Q402H | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AIM1-E1196A | homozygous | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 1 | PCSK1-S690T | homozygous | 0.235 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 1 | PCSK1-Q665E | homozygous | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-I66T | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-V138I | het unknown | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-T244I | het unknown | 0.210 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CLNK-P31L | homozygous | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CNGA1-S3F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ALPK1-T458A | homozygous | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | ALPK1-H642R | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ALPK1-S710F | homozygous | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 1 | ALPK1-M861T | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | CYP2B6-Q172H | het unknown | 0.292 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign) |
| 1 | CYP2B6-K262R | het unknown | 0.043 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | CYP2B6-R487C | het unknown | 0.088 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign) |
| 1 | NM_001145710-Q302Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VDR-M1T | homozygous | 0.676 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | BRCA2-T1915M | het unknown | 0.021 | Unknown protective | Low clinical importance, uncertain | Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed. |
| 1 | NEK3-Q293Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | C14orf104-D768G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | VPS11-L73Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VPS11-K887R | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CD3G-V131F | homozygous | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PPT1-M57Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | F5-Q534R | homozygous | 0.978 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-V1188E | het unknown | 0.062 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-C1515Y | het unknown | 0.096 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CILP-G1166S | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-K575E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-I395T | het unknown | 0.632 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | GLI3-R1537C | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GLI3-G1336E | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.965 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GLI3-T183A | het unknown | 0.666 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | APOE-R176C | het unknown | 0.068 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | BLMH-I443V | het unknown | 0.285 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | BLMH-E381K | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ADAMTSL3-H146R | homozygous | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 1 | ADAMTSL3-L290V | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ADAMTSL3-V661L | homozygous | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ADAMTSL3-T1660I | homozygous | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | NR_027242-L114P | homozygous | Unknown not reviewed | 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 | ELAC2-S217L | het unknown | 0.273 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 1 | AKAP10-I646V | het unknown | 0.452 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AKAP10-R249H | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-G528S | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-E603Q | homozygous | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | VSIG4-G279E | homozygous | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 1 | TOR1A-D216H | het unknown | 0.103 | Unknown protective | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SRRM3-R579Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | EXD3-R653C | homozygous | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 1 | EXD3-E322D | homozygous | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | EXD3-R220Q | homozygous | 0.890 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | EXD3-R20Q | het unknown | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ABCA1-K1587R | homozygous | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA1-I883M | homozygous | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA1-V825I | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GABRE-P437L | homozygous | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | GABRE-S102A | homozygous | 0.611 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.902 (probably damaging) |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AK300656-R11* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AK094914-T33Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PDIA2-P382A | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | ABCC6-R1268Q | het unknown | 0.219 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-M848V | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-H632Q | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | het unknown | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNRC6A-N185K | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.063 (benign) |
| 0.5 | TNRC6A-A592T | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | TNRC6A-P788S | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | TNRC6A-Q1112H | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | MKL2-E204Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PTCH1-P1315L | het unknown | 0.296 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTCH1-T1195S | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | OR2C1-C149W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR2C1-F273Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CIITA-L45V | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | CIITA-R174G | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CIITA-G500A | homozygous | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | CIITA-V782A | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CIITA-Q900R | homozygous | 0.919 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEPT1-G80V | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.946 (probably damaging) |
| 0.5 | SH2B1-T484A | het unknown | 0.343 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NR_027336-P160L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027336-V73F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027336-W23* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | CTNS-T260I | homozygous | 0.828 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-V819I | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEURL4-R1406H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.912 (probably damaging) |
| 0.5 | FANCA-M717I | het unknown | 0.022 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-G501S | het unknown | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-K393R | homozygous | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-P502L | homozygous | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L633S | homozygous | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L659P | homozygous | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-S675T | homozygous | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SALL1-V1275I | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1L-T1143S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC12A3-A264G | homozygous | 0.973 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC12A3-A322V | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC12A3-R928C | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NQO1-P187S | het unknown | 0.197 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.215 (possibly damaging) |
| 0.5 | HEXA-I436V | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-P55L | het unknown | 0.051 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FKTN-R203Q | homozygous | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM71D-T197Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MLH3-P844L | het unknown | 0.443 | 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 | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ACIN1-S643SHS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ACIN1-S643SHS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ACIN1-S467P | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | ACIN1-A447P | het unknown | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACIN1-I311M | homozygous | 0.497 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACIN1-N20S | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | TEP1-I2486M | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-V2214I | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-C1468Y | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S1447T | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S1195P | homozygous | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1055C | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S116P | homozygous | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TPPP2-Y165* | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | RPGRIP1-P96Q | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-K192E | homozygous | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-T641A | homozygous | 0.959 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CR623477-Q168QRS | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CR623477-Q139H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CR623477-V134Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift | |
| 0.5 | CR623477-V134Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift | |
| 0.5 | CR623477-A133Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CR623477-Y67H | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | BBS4-I354T | homozygous | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MRPL50-L127F | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (probably damaging) |
| 0.5 | PYGO1-R405H | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCNDBP1-I277T | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.88 (probably damaging) |
| 0.5 | STRC-R1521Q | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC28A2-P22L | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A2-S75R | homozygous | 0.497 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | KCNJ12-I100V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KCNJ12-R118H | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | KCNJ12-G145S | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | KCNJ12-P156L | het unknown | 0.489 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KCNJ12-D173N | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.577 (possibly damaging) |
| 0.5 | KCNJ12-A185V | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | KCNJ12-Q192H | het unknown | 0.484 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | KCNJ12-E289Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | KCNJ12-T290M | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | KCNJ12-V297I | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.427 (possibly damaging) |
| 0.5 | KCNJ12-M302I | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | LINGO2-T59I | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DLL3-L218P | homozygous | 0.593 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FCGBP-P4788S | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FCGBP-V4469I | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FCGBP-T1524N | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.244 (possibly damaging) |
| 0.5 | PRX-G1132R | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-I921M | homozygous | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | homozygous | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | WDR62-L850S | het unknown | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-M1134R | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-Q1310L | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-L1390F | het unknown | 0.749 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-S734A | homozygous | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | homozygous | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-D1312G | homozygous | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-D1838N | homozygous | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | TG-S2132L | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-W2501R | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | ZNF559-D18G | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ICAM1-K469E | het unknown | 0.349 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TYK2-I684S | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | NOTCH3-A2223V | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH3-V1183M | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH3-A1020P | het unknown | 0.112 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM67-I604V | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF224-M118V | homozygous | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-T177M | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.713 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PEX2-C184R | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FPR1-E346A | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NPHP4-R1294S | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LAIR2-R76* | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | LAIR2-H112Q | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | ELSPBP1-G61S | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
| 0.5 | ELSPBP1-R73C | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
| 0.5 | ELSPBP1-P185L | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DMPK-L423V | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-T298P | homozygous | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-N27S | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-K751Q | het unknown | 0.319 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CD3EAP-K428Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CD3EAP-Q504K | homozygous | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.5 | SIX5-P635S | homozygous | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-L556V | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-S447L | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-R62Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX11G-L216F | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | PEX11G-C91W | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | KRT14-C63Y | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JUP-M697L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HILS1-G229A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HILS1-Y148Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | COL1A1-T1075A | homozygous | 0.971 | 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 | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | SPACA3-M182V | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MAP2K3-P40T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MAP2K3-R55T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-S68P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.029 (benign) |
| 0.5 | MAP2K3-R94L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | MAP2K3-R96W | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MAP2K3-Q102* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | MAP2K3-L215W | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-R293H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging) |
| 0.5 | MAP2K3-V339M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.815 (possibly damaging) |
| 0.5 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-H49Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_028064-H41Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SNAPC3-E398A | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | RECQL4-S92P | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XYLT2-T801R | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SCN4A-N1376D | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MEP1B-W285* | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | MEP1B-P695L | homozygous | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATP8B1-A1152T | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWC2-A120G | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWC2-P148L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SCRIB-H1217P | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | SCRIB-V674E | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SCRIB-P422L | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DSG2-T745M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DSG2-R773K | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAI2-A558T | homozygous | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGB4-R515H | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGB4-L1779P | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-H199R | homozygous | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-R223H | homozygous | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-E689K | het unknown | 0.030 | Complex/Other benign | Low clinical importance, uncertain | This is also known as the GAA*4 allozyme is frequent in the Asian population and appears to have somewhat reduced enzyme activity. Kroos et al. rule out pathogenic effect. |
| 0.5 | GAA-V780I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TGIF1-P292S | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UGGT2-H1381R | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | UGGT2-S328A | het unknown | 0.854 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PROZ-R295H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.884 (probably damaging) |
| 0.5 | PTF1A-S263P | homozygous | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.5 | MYO3A-R319H | homozygous | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-I348V | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-V369I | homozygous | 0.661 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-A833S | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | MYO3A-S956N | homozygous | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-T1284S | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | MYO3A-R1313S | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PTCHD3-*768Q | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-I584M | homozygous | 0.960 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-M521T | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | PTCHD3-C407G | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | EXO1-F483C | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | EXO1-R723C | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.512 (possibly damaging) |
| 0.5 | MTR-D919G | het unknown | 0.217 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EPHX1-Y113H | het unknown | 0.257 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | AGT-M268T | homozygous | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGT-T207M | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARID4B-D293G | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | EDARADD-M9I | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-A120T | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-V461M | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R3C | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-S494N | 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-N1349D | het unknown | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R1434Q | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-V1672I | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R1801Q | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-E2041K | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R2355Q | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-P2377L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARMS2-R38* | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | ARMS2-A69S | het unknown | 0.207 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MKI67-I2101T | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | MKI67-R832W | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MKI67-G216E | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | MKI67-N104S | het unknown | 0.611 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.417 (possibly damaging) |
| 0.5 | AK160367-D257E | het unknown | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK160367-M356V | het unknown | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK160367-V380Shift | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AK160367-V380Shift | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | RASSF7-P89A | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | TACC2-R960K | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TACC2-W1103R | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | TACC2-A1215V | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TACC2-P1492L | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | TACC2-E1916K | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | TACC2-G2730R | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | TACC2-A2732T | het unknown | 0.254 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZDHHC6-R18Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ANXA11-R230C | het unknown | 0.341 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DMD-R2937Q | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-K2366Q | homozygous | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AX746750-S137Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | COL17A1-D1370G | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | het unknown | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.845 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-V4433L | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-M3868V | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-T3835I | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-E3411A | homozygous | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | homozygous | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | UBA1-R447H | homozygous | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WDR65-N241D | het unknown | 0.521 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | WDR65-C345S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | FAAH-P129T | het unknown | 0.256 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 0.5 | ALG6-S306F | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC28B-R25W | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | FUCA1-Q286R | het unknown | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | FUCA1-R2W | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests |
| 0.5 | RNF207-A95V | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RNF207-A421T | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RNF207-G603A | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign) |
| 0.5 | KIAA2013-C400R | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ARHGEF19-R633Q | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | XIAP-Q423P | homozygous | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DPYD-I543V | het unknown | 0.185 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DPYD-R29C | homozygous | 0.714 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HMCN1-I2418T | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-E2893G | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-Q4437R | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | CFH-H402Y | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-R1729W | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-R1539C | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN15-G19D | homozygous | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | TSEN15-Q59H | homozygous | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | KIAA1614-L64P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1614-R301C | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIAA1614-L801F | homozygous | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1614-N1078D | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DBT-S384G | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTPN22-W620R | het unknown | 0.934 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SPAG17-R143Q | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | DARS2-G338E | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.091 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTSD-A58V | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADM-S50R | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (probably damaging) |
| 0.5 | SETX-I1386V | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LYZ-T88N | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests |
| 0.5 | TMPO-Q599E | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT6C-V481I | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT6C-R182Q | homozygous | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT83-H493Y | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-I279M | homozygous | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-E201* | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | KIF21A-L1088I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | LRRK2-R50H | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-S1647T | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-G1405S | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LARP4-F351L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | SH2B3-W262R | het unknown | 0.634 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HNF1A-I27L | het unknown | 0.260 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S487N | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S574G | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LILRB1-A309V | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.855 (probably damaging) |
| 0.5 | FARP1-H644Y | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | COL4A1-T555P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AK131516-R31* | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FNDC3A-T1017A | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | HPD-V340L | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HPD-T33A | het unknown | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MTUS2-T367Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HTR2A-H452Y | homozygous | 0.109 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.489 (possibly damaging) |
| 0.5 | SUCLA2-S199T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T1381A | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | het unknown | 0.503 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-N318K | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-M1808I | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MADD-R765Q | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MADD-R766* | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | RAPSN-V138I | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BDNF-V148M | het unknown | 0.138 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SLC6A5-G102S | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | het unknown | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-D463N | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MICALCL-V70I | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICALCL-A305T | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICALCL-S313G | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.923 (probably damaging) |
| 0.5 | MICALCL-T471P | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.331 (possibly damaging) |
| 0.5 | MICALCL-R671C | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | INSC-R274Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | USH1C-E819D | homozygous | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPTY2D1-R447Q | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | NDUFS3-E85D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MS4A2-E237G | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | MMP27-D447N | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | MMP27-W304L | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | MMP27-E266V | het unknown | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MMP27-M30V | het unknown | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | MMP27-T24M | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DYNC2H1-Q304L | het unknown | 0.048 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests |
| 0.5 | DYNC2H1-K1413R | het unknown | 0.679 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.063 (benign), Testable gene in GeneTests |
| 0.5 | DYNC2H1-N1576K | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DYNC2H1-R2871Q | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATM-S99G | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-N1983S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARRDC1-N287T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | ARRDC1-G363C | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.177 (benign) |
| 0.5 | CDC42BPG-Q1135R | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CDC42BPG-A1048T | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging) |
| 0.5 | MEN1-T546A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MS4A14-N177Y | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | MS4A14-G584R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | MS4A5-G51E | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | AHNAK-Q3003K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK-G2527D | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | AHNAK-V1274A | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | RCOR2-K240Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CD226-S307G | het unknown | 0.451 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | GBE1-I334V | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I4450V | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T3791I | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | homozygous | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-G24E | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP3A7-R409T | homozygous | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LIFR-D816G | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TERT-I589V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FAT1-K4059N | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-S3554A | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-Q2933P | het unknown | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-Q2933P | het unknown | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-M2845I | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FAT1-H1273R | homozygous | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-Y1250C | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FAT1-R1064G | het unknown | 0.829 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-V862L | het unknown | 0.778 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-F614L | het unknown | 0.783 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-V482I | het unknown | 0.460 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-S404R | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BBS12-R386Q | homozygous | 0.416 | 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 | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RBM46-I126M | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
| 0.5 | TLR3-L412F | het unknown | 0.213 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | F11-E135* | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | OSMR-G578D | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | HEATR7B2-L1179P | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-N918K | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-V496I | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-R330Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | ALDH7A1-K439Q | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H2AFY-A168Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_027127-W61* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | DPYSL3-G399Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DMXL1-M1589V | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | SLCO6A1-R646Q | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | AP3B1-V585E | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-G428D | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-T689A | het unknown | 0.006 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.862 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-K1516R | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-R1826H | homozygous | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-F2301Y | homozygous | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-D2937Y | homozygous | 0.388 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L1093F | het unknown | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-T1927M | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | het unknown | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | het unknown | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N6157S | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PON1-L55M | homozygous | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | KIAA1109-I978T | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1109-R2222W | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TRIP6-R111Q | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | HTT-I1091M | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RGS12-M277L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.073 (benign) |
| 0.5 | RGS12-R633Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
| 0.5 | EVC-Q74P | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-Y258H | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | IDUA-R105Q | homozygous | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLDN16-R55Shift | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DRD3-G9S | homozygous | 0.533 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 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 | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRSS1-K170E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PRSS1-C171Y | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WFS1-V333I | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFS1-R611H | homozygous | 0.400 | Recessive not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP6V0A4-R568T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ATP6V0A4-V2A | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC26A3-S400A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SLC26A3-R399Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | CENPE-S1911T | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CENPE-T1268I | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CENPE-S851A | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | HADH-L86P | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFI-T300A | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZSCAN5B-V208I | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.07 (benign) |
| 0.5 | ZSCAN5B-S8L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | CCDC158-R134Q | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | LRGUK-R528H | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TLR1-S602I | homozygous | 0.485 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TLR1-N248S | homozygous | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TLR6-T756M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.076 (benign) |
| 0.5 | TLR6-S249P | homozygous | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | KIT-T274M | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ADRB2-G16R | het unknown | 0.413 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ADRB2-E27Q | het unknown | 0.661 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SLC26A2-I574T | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-T689S | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEC63-T676I | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests |
| 0.5 | RSPH4A-R556H | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-L589P | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | STX11-V267M | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-D26A | het unknown | 0.149 | 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 | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q4048R | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.952 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | homozygous | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TREML2-S144G | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.831 (possibly damaging) |
| 0.5 | TREML2-R69Q | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TREML2-A68T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TRERF1-D1187N | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | HSP90AB1-R604Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.888 (probably damaging) |
| 0.5 | MUT-R532H | homozygous | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AKAP12-K117E | het unknown | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP12-K216Q | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP12-S887C | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.883 (probably damaging) |
| 0.5 | AKAP12-E1531EE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AKAP12-E1600D | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SYNE1-L8741M | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-F7302V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-L5015M | het unknown | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S4596T | het unknown | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | het unknown | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-E4060D | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-V1035A | het unknown | 0.534 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GARS-P42A | homozygous | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-R43K | het unknown | 0.286 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-C208R | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_024390-W43* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | NR_024390-A104P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | EGFR-R521K | het unknown | 0.203 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNAH11-V1023A | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | het unknown | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-Y2593H | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | homozygous | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V3715L | het unknown | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.718 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A4322T | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWDE-F1485C | homozygous | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWDE-K1273Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | VWDE-Q1256K | homozygous | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWDE-C1050Y | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWDE-T1032M | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWDE-G1009R | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWDE-C890F | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWDE-E869K | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWDE-Y804H | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWDE-S607F | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWDE-R385* | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | VWDE-G340D | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWDE-F292I | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWDE-S142F | homozygous | 0.611 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWDE-R39H | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | POR-A503V | het unknown | 0.234 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A2-S270A | homozygous | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | KIAA0415-L375Q | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | PMS2-K541E | homozygous | 0.874 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PMS2-P470S | het unknown | 0.375 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIF6-W719R | homozygous | 0.507 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.01 (benign) |
| 0.5 | TULP1-K261N | homozygous | 0.844 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-I259T | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-T67R | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-V92L | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-A147V | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-E152R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-H-F153C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-H-SP182WS | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-A-F33S | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HLA-A-F33S | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HLA-A-G80R | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.055 (benign) |
| 0.5 | HLA-A-Q86Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-A-T88Shift | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | HLA-A-K168Q | homozygous | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-A-D185E | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-A-T187R | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HLA-A-I312L | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-A-L318F | het unknown | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-A-T323A | het unknown | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HLA-A-T345S | het unknown | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-A-V358M | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-F-K56E | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-F-V57G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-F-G62A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-F-D123E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-F-M126L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-F-S128Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | FLT4-T494A | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PROP1-A142T | het unknown | 0.239 | 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 | AKAP9-K386N | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-P2979S | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KCNMB1-E65K | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MSX2-M129T | homozygous | 0.753 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FGFR4-P136L | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FGFR4-G388R | het unknown | 0.241 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.481 (possibly damaging) |
| 0.5 | RNF39-A304E | homozygous | 0.173 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | RNF39-S203P | homozygous | 0.176 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HLA-L-H17R | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-I30V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-R38Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-L-A142V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-W144* | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | HLA-L-C172Y | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-DQA1-L8M | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q57E | homozygous | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q198E | homozygous | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A210T | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-R252H | homozygous | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-P1722L | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC39A7-G124R | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | BTNL2-S360G | homozygous | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BTNL2-K196E | homozygous | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BTNL2-D118N | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | TNXB-V3875I | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-K3015R | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G2518E | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R1255H | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | homozygous | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NCRNA00243-I123M | het unknown | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NCRNA00243-P80L | het unknown | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NCRNA00243-R77* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | NCRNA00243-P38L | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HSPA1L-E602K | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | ABCB1-S893A | homozygous | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ABCB1-M89T | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CYP21A2-R103K | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP21A2-S494N | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGPAT9-R386K | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | NR_027052-Q90* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | COL6A3-A3012P | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2988V | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2927T | het unknown | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-D2831H | het unknown | 0.068 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGXT-A295T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC18A1-I136T | het unknown | 0.809 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC18A1-Q10Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SLC18A1-T4P | het unknown | 0.284 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ROBO1-P1188L | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | HR-Q528R | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | HR-L526P | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HR-E506G | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | HR-T13A | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ABCA12-S777T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CXCR1-R335C | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CXCR1-M31R | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | OBSL1-Q1578R | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | het unknown | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | het unknown | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NAT2-I114T | het unknown | 0.398 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT2-R197Q | het unknown | 0.282 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT2-R268K | het unknown | 0.581 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CPNE1-A402Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CPNE1-P347R | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.384 (possibly damaging) |
| 0.5 | CPNE1-Q211R | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UBASH3A-S18G | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UBASH3A-L28F | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | CBS-R369C | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-S399N | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UMODL1-M559T | homozygous | 0.757 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | UMODL1-S689Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | UMODL1-R691G | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UMODL1-T741P | homozygous | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UMODL1-I767T | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UMODL1-T826P | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UMODL1-V978I | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UMODL1-D1336N | het unknown | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CBR3-V244M | homozygous | 0.400 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign) |
| 0.5 | LPIN3-R61W | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SALL4-L507R | homozygous | 0.281 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNE1-S38G | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPS1-T344A | homozygous | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPS1-T1406N | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTLA4-T17A | homozygous | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | SLC3A1-Y461H | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC3A1-M618I | homozygous | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | SIX3-T316I | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DYSF-E489K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OXER1-T128M | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | ALK-D1529E | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF772-M218L | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | ZNF772-C182W | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ZNF772-W41* | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | APOB-S4338N | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-R3638Q | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-I2313V | het unknown | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-Y1422C | homozygous | 1.000 | Unknown benign | Low clinical importance, uncertain | This position is almost certainly an error in the HG18 reference sequence. |
| 0.5 | APOB-D1113H | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-T98I | het unknown | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ADAM3A-G372S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ADAM3A-R356W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ADAM3A-N302S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ADAM3A-R215G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ADAM3A-F185Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V3964L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ALMS1-R4029K | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DL492456-R148H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DL492456-Y109C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DL492456-W104* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | COL3A1-H1353Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | STAT1-R588RER | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ALS2-V368M | het unknown | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALS2-I94V | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S20650G | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-A19840P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R13340H | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T6951P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-S3419N | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-V3261M | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S1295L | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-K1201E | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T811I | homozygous | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC25A12-R473Q | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NEB-A6277P | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-D5018V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-S3875T | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-S2912P | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | het unknown | 0.351 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | het unknown | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1479I | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | het unknown | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN1A-A1056T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | G6PC2-Y207S | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | G6PC2-V219L | het unknown | 0.411 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | G6PC2-S342C | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATG16L1-T300A | homozygous | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MCPH1-R171S | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.681 | 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 | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1671-P205T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) | |
| 0.5 | KIAA1671-K439R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.872 (probably damaging) | |
| 0.5 | KIAA1671-P818L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) | |
| 0.5 | KIAA1671-V1198I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.832 (possibly damaging) | |
| 0.5 | ITPR1-V494I | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-G118W | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-P727L | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BAIAP2L2-M411MTPM | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | BAIAP2L2-M411MTPM | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | BAIAP2L2-S406T | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.88 (probably damaging) |
| 0.5 | FLNB-D1157N | homozygous | 0.303 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLNB-V1471M | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-Q620H | homozygous | 0.868 | 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 | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-L438V | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOS3-D298E | homozygous | 0.749 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ROBO2-D215Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | GGT5-E466K | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | GGT5-K330R | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GGT5-A42Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PPARA-L162V | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign) |
| 0.5 | SLC22A13-R449W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | ATXN3-V212M | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC22A16-M409T | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | SLC22A16-V252A | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.609 (possibly damaging) |
| 0.25 | SLC22A16-H49R | het unknown | 0.271 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LMBRD1-D469E | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A1-S339P | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | XRCC3-T241M | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.188 (benign) |
| 0.25 | FMO3-E158K | het unknown | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FIG4-V654A | het unknown | 0.331 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | CUL7-Q813R | het unknown | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-V74M | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RYR2-Q2958R | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPN2-V536M | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests |
| 0.25 | CPN2-Q509R | het unknown | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CPN2-Q509R | het unknown | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CPN2-A305T | het unknown | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | ZNF317-Q19H | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | ZNF317-Q19H | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | SYNE2-I574T | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests |
| 0.25 | SYNE2-M1969T | het unknown | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.25 | SYNE2-A2284V | het unknown | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.25 | SYNE2-S2359N | het unknown | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.25 | SYNE2-A2395T | het unknown | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SYNE2-S2802G | het unknown | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.25 | SYNE2-I2942V | het unknown | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SYNE2-D3253H | het unknown | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.25 | SYNE2-H3309R | het unknown | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | SYNE2-W4001Q | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SYNE2-L5186M | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | STXBP2-I526V | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGA6-A380T | het unknown | 0.316 | 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-D521N | het unknown | 0.360 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | NPHS1-N1077S | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.25 | NPHS1-E117K | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | FLG-E2976D | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCB11-V444A | het unknown | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-R337Q | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-T312I | het unknown | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-L278V | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRP2-I4210L | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | LRP2-K4094E | het unknown | 0.799 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CASQ2-T66A | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NOTCH2-N46S | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NOTCH2-E38K | het unknown | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RP1-N985Y | het unknown | 0.349 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
| 0.25 | RP1-C2033Y | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.25 | SEPN1-C108Y | het unknown | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SEPN1-N467K | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HGD-Q80H | het unknown | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IQCB1-C434Y | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.25 | CHRNA2-T125A | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALPL-Y263H | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PINK1-N521T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATXN7-V862M | het unknown | 0.394 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPG11-F463S | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLOD1-A99T | het unknown | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | OTOF-R82C | het unknown | 0.365 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NPSR1-N107I | het unknown | 0.489 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | NPSR1-Q344R | het unknown | 0.365 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP4B1-R173W | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | STIL-H985R | het unknown | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | STIL-A86V | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-R891C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q596R | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-S1547P | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-P1335L | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CAPN3-A236T | het unknown | 0.245 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SULT1C4-D5E | het unknown | 0.429 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PCDH15-D440A | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCDH15-S19A | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AGL-P1067S | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MCEE-A76V | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPT2-V368I | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPT2-M647V | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SOD2-V16A | het unknown | 0.476 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LEPR-Q223R | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.25 | TTBK2-L8P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C1orf141-V189I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf141-N109Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PLCE1-R548L | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.25 | PLCE1-R1575P | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-T1777I | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-H1927R | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | FBN2-V965I | het unknown | 0.665 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALG9-V289I | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD19-L174V | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DPAGT1-I393V | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SNX19-L878R | het unknown | 0.809 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SNX19-N753S | het unknown | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-V361L | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CFTR-V470M | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MKKS-G532V | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MKKS-R517C | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HSD17B4-W511R | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests |
| 0.25 | HSD17B4-I559V | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
| 0.25 | AOX1-N1135S | het unknown | 0.174 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MYO7A-S1666C | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-L1954I | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | APC-V1822D | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALG8-N222S | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-T49S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-I81V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-C194* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ATP7B-V1140A | het unknown | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-R952K | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-K832R | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-V456L | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-S406A | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A1-R850H | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-M239K | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | B3GALTL-E370K | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ACADS-G209S | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.25 | SLC19A1-H27R | het unknown | 0.504 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.25 | AIPL1-D90H | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLCO1B3-S112A | het unknown | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SLCO1B3-M233I | het unknown | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
| 0.25 | SLCO1B3-G256A | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.25 | DNAI1-V335I | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIOBP-S217N | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-Q398Del | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-F1187L | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-W1377R | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.25 | KRT6B-I365V | het unknown | 0.301 | 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 | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | POLA2-G583R | het unknown | 0.154 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.024 (benign) |
| 0.25 | C17orf55-V50L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C17orf55-A49Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NPC1-M642I | het unknown | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL1A2-P549A | het unknown | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NHLRC1-P111L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSP-Y1512C | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH6-V1101A | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC2-I776V | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASP10-L522I | het unknown | 0.439 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GPR56-S281R | het unknown | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GPR56-Q306H | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MICA-W37G | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-Y59C | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-V152M | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-E196K | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-S229G | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-R233W | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-I236T | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-T238S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-R274Q | het unknown | 0.478 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | FANCM-S175F | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCM-V878L | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MLH1-I219V | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOK7-G461D | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALX4-R35T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC2A9-R294H | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | SLC2A9-V282I | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.138 (benign), Testable gene in GeneTests |
| 0.25 | SLC2A9-G25R | homozygous | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MAPT-P202L | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-D285N | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-R370W | het unknown | 0.156 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-S447P | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-S1634G | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-K1183R | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-E1038G | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-P871L | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ARSA-T391S | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TCOF1-P1139R | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM43-K168N | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM43-M179T | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-L141P | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-E162G | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-P574L | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-S1400P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-V1327M | het unknown | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-P1004L | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-P482S | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C2orf83-W141* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C2orf83-E104Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C2orf83-S45L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NIPAL4-R213G | het unknown | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0 | H6PD-R453Q | het unknown | 0.309 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign) |
| 0 | MBL2-R52C | het unknown | 0.049 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0 | MTRR-I49M | het unknown | 0.451 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0 | MEFV-R202Q | het unknown | 0.178 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 0 | CEP290-D983Shift | het unknown | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | SLC5A2-N654S | het unknown | 0.007 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.776 (possibly damaging), Testable gene in GeneTests |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,768,082,398 bases (96.9% of callable positions, 89.9% of total positions)
Coding region coverage: 31,756,872 bases (95.4% of all genes, 96.6% 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