Variant report for hu02C8E3
- Data source: hu02C8E3: var-GS000036653-ASM.tsv.bz2
- This report: evidence.pgp-hms.org/genomes?1275e658ed44c995871efd57bc69bd5ae2a5eaec
- Person ID: hu02C8E3
- public profile: my.pgp-hms.org/profile/hu02C8E3
- Download: source data, dbSNP and nsSNP report (120 MB)
- Processing status: processing
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | SIAE-M89V | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0400632 | This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort. | 1 |
| 2 | MBL2-G54D | Low | Likely | Likely pathogenic Recessive, Homozygous | 0.103923 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). | 1 |
| 3 | AMPD1-Q12X | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.0930643 | Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly. | 1 |
| 4 | KRT5-G138E | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0521472 | This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant). | 1 |
| 5 | 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 |
| 6 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Homozygous | 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 |
| 7 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Homozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
| 8 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 9 | HFE-H63D | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.109965 | There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles. | 1 |
| 10 | ERCC6-R1213G | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.196877 | When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. | 1 |
| 11 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 12 | DYX1C1-E417X | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.20147 | One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive. | 1 |
| 13 | CYP2C9-R144C | Moderate | Well-established | Well-established pharmacogenetic Unknown, Heterozygous | 0.0970982 | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. | 1 |
| 14 | 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 |
| 15 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.351562 | rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. | 1 |
| 16 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 0.490519 | This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. | 1 |
| 17 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
| 18 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Heterozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 19 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 20 | HTRA2-A141S | Low | Likely | Likely benign Unknown, Heterozygous | 0.016814 | Probably benign. One report proposed an association with increased risk for Parkinson's disease, but had very weak statistical significance. A later study found an equal incidence of this variant in cases and controls, contradicting any association with the disease. | 1 |
| 21 | NEFL-S472Shift | Low | Likely | Likely benign Unknown, Homozygous | Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC. | 1 | |
| 22 | MYO1A-V306M | Low | Likely | Likely benign Unknown, Heterozygous | 0.00622792 | Probably benign. Other variants in this gene implicated in causing autosomal dominant nonsyndromic deafness. This variant was also considered potentially pathogenic, but subsequent allele frequency data strongly contradicts such a hypothesis. | 1 |
| 23 | EFHC1-R182H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0439673 | Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism. | 1 |
| 24 | SLC45A2-E272K | Low | Likely | Likely benign Unknown, Heterozygous | 0.0290946 | Pigmentation allele for black hair in Caucasian population. | 1 |
| 25 | MLH1-I219V | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.239822 | Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. | 1 |
| 26 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Homozygous | 0.232202 | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. | 1 |
| 27 | TYR-S192Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.270682 | This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3). | 1 |
| 28 | COL5A2-P460S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0400632 | Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous. | 1 |
| 29 | VWF-G2705R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0460123 | Probably benign, seems to be considered an uncommon polymorphism. | 1 |
| 30 | LRRK2-N2081D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0135738 | Reported as a rare, nonpathogenic variant. | 1 |
| 31 | MAPT-Q230R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0420019 | Common polymorphism. | 1 |
| 32 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.286166 | Pigmentation allele. | 1 |
| 33 | RAPSN-R58C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0778026 | Reported as non-pathogenic polymorphism. | 1 |
| 34 | BRCA1-Q356R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0462911 | One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association. | 1 |
| 35 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 36 | AMPD1-P48L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0940695 | Probably benign, ancestral to15173240 pathogenic Q12X mutation. | 1 |
| 37 | ABCA4-R943Q | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0316044 | This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect. | 1 |
| 38 | NEUROD1-P197H | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0200781 | Tentatively presumed benign. Other disruptive mutations in this gene have been reported to cause type 2 diabetes in a dominant manner, but this was found in a PGP participant who does not report having the disease. | 1 |
| 39 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 40 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
| 41 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
| 42 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 43 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 44 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 31126420 / 33212919 = 93.72%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.28347996089932 | 4398 | 6138 | 955553-955753, 957581-957641, 957668-957733, 957754-957842, 970657-970704, 976045-976049, 976070-976260, 976553-976765, 976858-977034, 977043, 977055-977082, 977377, 977390-977391, 977395-977404, 977416-977456, 977476, 977508-977542, 978619-978620, 978635-978650, 978663-978781, 978796-978818, 978921-978923, 978936-978958, 978967-978968, 978975, 978984-979099, 979203-979220, 979240-979334, 979348-979384, 979395-979401, 979489-979544, 979551, 979562-979577, 979600, 979606-979637, 979727-979728, 979738, 979752-979753, 979778, 979786, 979804, 980560-980588, 980601-980625, 980641, 980649-980657, 980767, 980777-980787, 980795-980798, 980851, 980855, 980881-980903, 981113-981156, 981192-981193, 981198-981203, 981212-981219, 981230-981256, 981344-981362, 981373-981374, 981427-981429, 981545-981588, 981616-981645, 981777-981801, 981808-981879, 981891-981897, 981902-981918, 981922-981968, 981974-982100, 982200-982293, 982300-982326, 982721-982745, 982755-982782, 982804-982834, 982955-982974, 982986-983028, 983156-983166, 983172-983237, 983246-983259, 983392-983482, 983498-983745, 984247-984401, 984411-984439, 984616-984831, 984947-984948, 984954, 984975-985037, 985042-985051, 985061-985072, 985085-985147, 985154-985175, 985284-985291, 985306, 985317-985335, 985341-985390, 985405, 985620-985676, 985694, 985699, 985706, 985807-985830, 985842-985892, 985916-985942, 986141-986213, 986633-986749, 986833-986919, 986950-986973, 986994-987025, 987108-987162, 987173-987179, 987184-987195, 989205-989208, 989212-989214, 989222, 989291, 989828-989849, 989870-989892, 989898-989899, 989902-989906, 989916, 990228, 990242-990319, 990326, 990329, 990347-990351 |
| 2 | GABRD | 1 | 0.62398822663723 | 511 | 1359 | 1950863-1950930, 1956463-1956469, 1957037-1957040, 1957052-1957085, 1957112-1957120, 1957130-1957135, 1957156-1957170, 1959043-1959052, 1959708-1959718, 1960550-1960563, 1960584-1960617, 1960637-1960676, 1960997-1961019, 1961028-1961085, 1961141-1961190, 1961201, 1961430-1961498, 1961530-1961531, 1961536-1961550, 1961552, 1961660-1961684, 1961699, 1961708-1961721 |
| 3 | PEX10 | 1 | 0.68195718654434 | 312 | 981 | 2337205-2337214, 2337270-2337273, 2337924-2337942, 2337952, 2337988-2338003, 2338030-2338038, 2338164-2338184, 2338192, 2338255-2338297, 2338318-2338334, 2339997-2340039, 2340100-2340107, 2340178-2340194, 2340262, 2340265-2340266, 2340271-2340272, 2343830-2343869, 2343884-2343941 |
| 4 | NPHP4 | 1 | 0.92595188040178 | 317 | 4281 | 5924454-5924455, 5925216, 5925267, 5925320, 5927107, 5934563, 5934643-5934657, 5934695-5934698, 5935041-5935043, 5935078, 5935108-5935113, 5935118-5935121, 5935138-5935160, 5947470-5947519, 5950949-5950963, 5951016, 6021892, 6027362, 6029157-6029194, 6029206, 6029252, 6038330-6038473, 6046251-6046252 |
| 5 | ESPN | 1 | 0.58986354775828 | 1052 | 2565 | 6485016-6485151, 6485165-6485197, 6485206-6485215, 6485220, 6485224-6485294, 6485301, 6488289-6488337, 6488377-6488392, 6488426-6488432, 6488462-6488479, 6500355-6500358, 6500382-6500492, 6500692, 6500708, 6500712, 6500726, 6500741, 6500751-6500800, 6500813-6500868, 6501026-6501065, 6501097-6501103, 6505726-6505754, 6505845-6505864, 6505872-6505920, 6505931-6505937, 6508701-6508734, 6508747-6508766, 6508807-6508839, 6508851-6508857, 6508881-6508928, 6508959-6508964, 6508976, 6508979, 6508985, 6509080-6509106, 6509139-6509151, 6511677-6511709, 6511735-6511757, 6511907-6511942, 6512106-6512133, 6520082-6520102 |
| 6 | PLEKHG5 | 1 | 0.97209156475384 | 89 | 3189 | 6527909, 6528025-6528027, 6528235-6528258, 6530342-6530357, 6530850-6530858, 6531568-6531570, 6532623, 6533410-6533414, 6534089, 6534201-6534204, 6534558-6534562, 6534570-6534574, 6556607, 6556620-6556626, 6557380-6557383 |
| 7 | PEX14 | 1 | 0.78130511463845 | 248 | 1134 | 10535054-10535056, 10659328-10659335, 10683105-10683117, 10684410-10684411, 10684422-10684453, 10687420, 10689605-10689608, 10689644-10689672, 10689742-10689769, 10689786-10689796, 10689842-10689914, 10689948-10689974, 10690008-10690024 |
| 8 | TARDBP | 1 | 0.95983935742972 | 50 | 1245 | 11080649, 11082322-11082362, 11082530, 11082599-11082605 |
| 9 | MASP2 | 1 | 0.71130519165454 | 595 | 2061 | 11097776, 11097814, 11097840, 11102932-11102934, 11102940-11102983, 11102987-11102994, 11103016-11103075, 11103396-11103462, 11103492-11103590, 11105465-11105519, 11105538-11105596, 11106616, 11106624-11106625, 11106634-11106677, 11106688-11106690, 11106702, 11106716-11106717, 11106750-11106753, 11106768-11106772, 11106785-11106788, 11106955, 11106976-11107013, 11107022, 11107068-11107094, 11107110-11107150, 11107159-11107176, 11107260-11107264 |
| 10 | PLOD1 | 1 | 0.91941391941392 | 176 | 2184 | 11994837, 11994866, 11994875, 12008033-12008046, 12009900, 12010514-12010520, 12012704-12012707, 12016998, 12017949, 12018688-12018704, 12020741, 12023662, 12023678-12023680, 12024266, 12024271-12024279, 12024293-12024294, 12024749-12024767, 12024806-12024842, 12026327-12026328, 12026340, 12030757-12030758, 12030763-12030764, 12030773-12030817, 12034742, 12034747, 12034790 |
| 11 | MFN2 | 1 | 0.99956024626209 | 1 | 2274 | 12067115 |
| 12 | CLCNKA | 1 | 0.8531976744186 | 303 | 2064 | 16353201-16353238, 16354391-16354397, 16354513-16354514, 16355649, 16355652, 16355691, 16355699, 16355716, 16356460-16356473, 16356502-16356508, 16356956-16356979, 16356990-16357019, 16357025-16357070, 16357108-16357154, 16358228-16358274, 16358728, 16358738-16358739, 16358768-16358783, 16358941-16358950, 16360106-16360112 |
| 13 | CLCNKB | 1 | 0.88856589147287 | 230 | 2064 | 16377385-16377386, 16377425, 16377469-16377471, 16377481-16377485, 16377515-16377532, 16378017, 16378205-16378218, 16378246, 16378279-16378299, 16378311-16378315, 16378693-16378705, 16378719, 16378766-16378803, 16378814-16378852, 16378877-16378879, 16378895, 16380169-16380171, 16380205, 16381972-16382001, 16382014, 16382175, 16382178-16382182, 16382232-16382253, 16383365 |
| 14 | ATP13A2 | 1 | 0.93084956251764 | 245 | 3543 | 17312731-17312768, 17312794-17312797, 17312810, 17312813, 17312973-17312976, 17313046-17313048, 17313602-17313609, 17313621-17313629, 17313633, 17313676-17313679, 17314942, 17314952-17314955, 17314966, 17320272-17320279, 17322472-17322474, 17322622-17322628, 17322900-17322928, 17322985-17322989, 17323516, 17323535-17323582, 17323668-17323670, 17326508-17326533, 17326558-17326567, 17326619-17326634, 17326750-17326755, 17326905, 17326908, 17338232-17338233 |
| 15 | ALDH4A1 | 1 | 0.85283687943262 | 249 | 1692 | 19200981-19200989, 19201956, 19202917, 19202926, 19203925, 19203947-19203977, 19204011-19204013, 19204025, 19208205-19208206, 19208262-19208267, 19208317-19208327, 19208331, 19208336-19208337, 19209638-19209676, 19209681, 19209687-19209692, 19209773-19209806, 19209827-19209831, 19209875-19209878, 19209913-19209922, 19211993, 19212016, 19212021-19212023, 19212031-19212047, 19213004-19213005, 19215911, 19216506-19216533, 19216561, 19216574-19216579, 19216584-19216599, 19228956-19228959 |
| 16 | PINK1 | 1 | 0.99770904925544 | 4 | 1746 | 20960123-20960125, 20960260 |
| 17 | ALPL | 1 | 0.99492063492063 | 8 | 1575 | 21887125, 21896847-21896848, 21896854-21896858 |
| 18 | HSPG2 | 1 | 0.9608378870674 | 516 | 13176 | 22149879-22149900, 22149920-22149938, 22150179-22150185, 22150849, 22150852, 22151068, 22151103, 22151197, 22154581-22154588, 22154627-22154632, 22154798, 22155421-22155436, 22155555, 22155953-22155959, 22155968, 22165472-22165475, 22167653-22167655, 22168061-22168067, 22168610-22168611, 22169359, 22170765, 22172621-22172634, 22173891, 22173894-22173895, 22173927, 22174533-22174538, 22175461-22175470, 22175521, 22175524, 22176600, 22176665-22176666, 22176669-22176672, 22176871-22176880, 22176971-22176975, 22178067-22178071, 22178079, 22178314-22178328, 22178332, 22178366-22178369, 22178591-22178594, 22178663, 22181137, 22181140-22181143, 22181211-22181215, 22181341-22181345, 22181415-22181453, 22182050, 22186102-22186107, 22186121, 22186154-22186165, 22186341-22186347, 22186361-22186453, 22186477-22186480, 22186490-22186494, 22186706-22186717, 22186720, 22191373-22191377, 22191818-22191820, 22198825, 22198828, 22199142-22199154, 22199208, 22199507-22199524, 22200996, 22207016-22207029, 22263648-22263710 |
| 19 | WNT4 | 1 | 0.91856060606061 | 86 | 1056 | 22456123-22456128, 22456323-22456325, 22469339-22469415 |
| 20 | HMGCL | 1 | 0.99488752556237 | 5 | 978 | 24134718-24134722 |
| 21 | FUCA1 | 1 | 0.98215560314061 | 25 | 1401 | 24194407, 24194424-24194426, 24194488, 24194572, 24194630-24194631, 24194635-24194637, 24194690, 24194712-24194723, 24194741 |
| 22 | LDLRAP1 | 1 | 0.98381877022654 | 15 | 927 | 25870250-25870264 |
| 23 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 24 | YARS | 1 | 0.97920604914934 | 33 | 1587 | 33256786-33256818 |
| 25 | ZMPSTE24 | 1 | 0.99929971988796 | 1 | 1428 | 40737645 |
| 26 | KCNQ4 | 1 | 0.8544061302682 | 304 | 2088 | 41249766-41249840, 41249851-41249972, 41249985, 41250000-41250013, 41250016-41250041, 41250068-41250071, 41284249-41284308, 41284318-41284319 |
| 27 | CLDN19 | 1 | 0.98814814814815 | 8 | 675 | 43203968, 43203980-43203981, 43205726-43205730 |
| 28 | LEPRE1 | 1 | 0.96155585707825 | 85 | 2211 | 43212387-43212394, 43212943-43212952, 43232257, 43232381-43232404, 43232503-43232527, 43232596-43232612 |
| 29 | STIL | 1 | 0.99767261442979 | 9 | 3867 | 47765794-47765801, 47767947 |
| 30 | DHCR24 | 1 | 0.99677627337202 | 5 | 1551 | 55352601-55352605 |
| 31 | PCSK9 | 1 | 0.98075998075998 | 40 | 2079 | 55505553-55505555, 55521669, 55521672-55521674, 55521777-55521783, 55521815-55521819, 55521822, 55521844-55521862, 55524244 |
| 32 | LEPR | 1 | 0.99942824471126 | 2 | 3498 | 66058406-66058407 |
| 33 | DPYD | 1 | 0.9990253411306 | 3 | 3078 | 98060622-98060624 |
| 34 | AGL | 1 | 0.99934768427919 | 3 | 4599 | 100346321-100346323 |
| 35 | COL11A1 | 1 | 0.99303646692322 | 38 | 5457 | 103364243-103364271, 103412486-103412494 |
| 36 | GSTM1 | 1 | 0.47945205479452 | 342 | 657 | 110230496-110230531, 110230792-110230823, 110230854, 110231295, 110231299-110231305, 110231691, 110231724-110231737, 110231862-110231947, 110232904-110232988, 110233076-110233142, 110235906-110235917 |
| 37 | VANGL1 | 1 | 0.99111111111111 | 14 | 1575 | 116226655-116226656, 116227958-116227967, 116228048-116228049 |
| 38 | NOTCH2 | 1 | 0.98071736785329 | 143 | 7416 | 120539665-120539714, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960, 120611964, 120611988-120611992, 120612006 |
| 39 | FLG | 1 | 0.82323978335795 | 2154 | 12186 | 152276266-152276279, 152276422-152276428, 152276490, 152276623-152276631, 152276709-152276742, 152276904-152276905, 152277226-152277269, 152277285-152277295, 152277386-152277410, 152277432-152277440, 152277521-152277557, 152278044-152278059, 152278238-152278251, 152278361, 152278406-152278437, 152278626-152278632, 152279202-152279239, 152279331, 152279366, 152279403-152279409, 152279465, 152279469, 152279601, 152279625-152279668, 152279695-152279701, 152279741, 152279747, 152279750, 152279837-152279852, 152280002, 152280008, 152280083-152280119, 152280164, 152280219, 152280282-152280309, 152280350-152280370, 152280468-152280510, 152280547-152280549, 152280573, 152280593-152280609, 152280627-152280639, 152280671, 152280691-152280693, 152280705, 152280864, 152280909, 152280915, 152280960-152280976, 152281038-152281074, 152281142-152281150, 152281224, 152281270, 152281285, 152281319-152281334, 152281388-152281389, 152281401-152281403, 152281523-152281524, 152281534, 152281545-152281547, 152281590-152281596, 152281600-152281605, 152281641-152281669, 152281688, 152281691-152281694, 152281742, 152281752-152281792, 152281798-152281822, 152281875, 152281917-152281925, 152281958-152281994, 152282076-152282125, 152282175-152282216, 152282236-152282242, 152282257-152282290, 152282293-152282297, 152282337-152282386, 152282412-152282449, 152282466, 152282483-152282528, 152282547-152282593, 152282645, 152282693-152282694, 152282706, 152282753, 152282833-152282854, 152282887-152282924, 152283078, 152283083, 152283090-152283099, 152283168, 152283190-152283229, 152283267-152283270, 152283302-152283338, 152283407-152283438, 152283449-152283460, 152283513-152283519, 152283524, 152283626-152283627, 152283736-152283744, 152283781-152283804, 152283835-152283873, 152283948, 152283968, 152283976, 152283981-152283986, 152283989-152283990, 152284010-152284016, 152284044-152284071, 152284077-152284079, 152284167-152284188, 152284241-152284357, 152284398, 152284409-152284410, 152284413, 152284421-152284453, 152284527, 152284571-152284587, 152284665-152284708, 152284816-152284857, 152284914-152284915, 152284937-152284943, 152285035-152285043, 152285119-152285123, 152285131-152285137, 152285165-152285198, 152285219-152285221, 152285230, 152285244, 152285289, 152285352, 152285358, 152285391-152285420, 152285499-152285540, 152285577-152285581, 152285629, 152285648, 152285680, 152285686, 152285694-152285696, 152285806-152285844, 152285885-152285919, 152285981, 152286121-152286123, 152286140-152286175, 152286186-152286194, 152286303-152286337, 152286373-152286406, 152286441, 152286827, 152286842-152286848, 152286882-152286884, 152286951, 152286994-152287036, 152287082, 152287819, 152287849, 152287858 |
| 40 | CHRNB2 | 1 | 0.98674618952949 | 20 | 1509 | 154540559-154540578 |
| 41 | PKLR | 1 | 0.98608695652174 | 24 | 1725 | 155269977-155270000 |
| 42 | LMNA | 1 | 0.95590828924162 | 25 | 567 | 156104989-156104995, 156105081-156105098 |
| 43 | LMNA | 1 | 0.95137844611529 | 97 | 1995 | 156104989-156104995, 156105081-156105098, 156108325, 156108352-156108386, 156108441-156108476 |
| 44 | SEMA4A | 1 | 0.97900262467192 | 48 | 2286 | 156130724, 156131137-156131162, 156131218-156131221, 156131224, 156131230-156131245 |
| 45 | NTRK1 | 1 | 0.9857800083647 | 34 | 2391 | 156830727-156830747, 156830779-156830791 |
| 46 | F5 | 1 | 0.97932584269663 | 138 | 6675 | 169510256-169510296, 169510351-169510383, 169510499-169510548, 169510647-169510653, 169511618-169511624 |
| 47 | DARS2 | 1 | 0.9984520123839 | 3 | 1938 | 173794408, 173795918-173795919 |
| 48 | CFH | 1 | 0.98647186147186 | 50 | 3696 | 196715005-196715011, 196716353-196716395 |
| 49 | CFHR1 | 1 | 0.99798590130916 | 2 | 993 | 196801042, 196801078 |
| 50 | CACNA1S | 1 | 0.99911063678406 | 5 | 5622 | 201012559-201012563 |
| 51 | PKP1 | 1 | 0.99449793672627 | 12 | 2181 | 201282469-201282475, 201282559-201282563 |
| 52 | PSEN2 | 1 | 0.99703043801039 | 4 | 1347 | 227071480-227071483 |
| 53 | ADCK3 | 1 | 0.64094650205761 | 698 | 1944 | 227149089-227149112, 227149196, 227149227, 227149230-227149231, 227149257-227149263, 227152702-227152740, 227152773, 227152788-227152844, 227152857, 227152879-227152881, 227152887-227152929, 227152934, 227152970-227153017, 227153035-227153111, 227153372-227153411, 227153424, 227165161-227165164, 227169762-227169818, 227170406-227170417, 227170456-227170463, 227170595-227170606, 227170651-227170652, 227170661-227170678, 227170688-227170690, 227170699-227170731, 227171268-227171275, 227171328, 227171464-227171516, 227171537-227171555, 227171795-227171825, 227171884-227171918, 227171932, 227172277-227172288, 227172955-227172975, 227173029-227173032, 227174219-227174222, 227174320, 227174415, 227174425-227174435, 227174438 |
| 54 | GJC2 | 1 | 0.39015151515152 | 805 | 1320 | 228345460-228345471, 228345500-228345509, 228345518-228345543, 228345551-228345601, 228345639-228345641, 228345656-228345657, 228345736-228345769, 228345779-228345842, 228345854-228345858, 228345861-228345863, 228345865-228345926, 228345975-228345978, 228345993-228346019, 228346042-228346100, 228346110-228346118, 228346127-228346156, 228346159, 228346165, 228346169, 228346182-228346195, 228346227-228346272, 228346279-228346335, 228346355-228346444, 228346459-228346491, 228346500-228346617, 228346662-228346683, 228346722-228346734, 228346740, 228346744, 228346747, 228346775-228346779 |
| 55 | ACTA1 | 1 | 0.99118165784832 | 10 | 1134 | 229568017-229568018, 229568122-229568127, 229568325-229568326 |
| 56 | ACTN2 | 1 | 0.99627560521415 | 10 | 2685 | 236850015-236850023, 236850026 |
| 57 | NET1 | 10 | 0.97040759352317 | 53 | 1791 | 5454708-5454742, 5454766-5454783 |
| 58 | GATA3 | 10 | 0.99775280898876 | 3 | 1335 | 8100744-8100746 |
| 59 | OPTN | 10 | 0.99365628604383 | 11 | 1734 | 13151241, 13151246, 13151249-13151250, 13151272-13151278 |
| 60 | CUBN | 10 | 0.99990802060338 | 1 | 10872 | 17032435 |
| 61 | PTF1A | 10 | 0.82370820668693 | 174 | 987 | 23481516-23481519, 23481557-23481590, 23481644-23481655, 23481671, 23481703-23481705, 23481732-23481775, 23481778, 23481901-23481952, 23481965-23481982, 23481991, 23482012-23482014, 23482157 |
| 62 | MASTL | 10 | 0.99544937428896 | 12 | 2637 | 27459009-27459010, 27459771, 27459774-27459775, 27470460-27470466 |
| 63 | RET | 10 | 0.94469357249626 | 185 | 3345 | 43572707-43572779, 43595968, 43596030-43596050, 43596096, 43596099-43596107, 43596111, 43596138, 43597981, 43597987-43597988, 43600416-43600425, 43600464-43600467, 43600511-43600513, 43600517-43600518, 43600555, 43600561, 43600566, 43600588-43600595, 43600604, 43600610, 43600619-43600624, 43606892-43606901, 43609093-43609095, 43609999, 43613826, 43613835, 43613870, 43615077-43615083, 43619131-43619140, 43619254-43619256 |
| 64 | ERCC6 | 10 | 0.99486836233824 | 23 | 4482 | 50732355-50732358, 50738781-50738786, 50740820, 50740831, 50740834-50740844 |
| 65 | CHAT | 10 | 0.96350689808634 | 82 | 2247 | 50822269-50822281, 50822298, 50822326-50822337, 50822343-50822381, 50822410-50822420, 50822424, 50835778-50835782 |
| 66 | NODAL | 10 | 0.96934865900383 | 32 | 1044 | 72201240, 72201312, 72201325-72201342, 72201348, 72201367-72201377 |
| 67 | PCBD1 | 10 | 0.9968253968254 | 1 | 315 | 72648290 |
| 68 | SLC29A3 | 10 | 0.99719887955182 | 4 | 1428 | 73082579-73082582 |
| 69 | CDH23 | 10 | 0.97454256165473 | 256 | 10056 | 73437261-73437262, 73439214-73439247, 73442239-73442263, 73442320-73442329, 73447404-73447416, 73461949-73461960, 73462316-73462321, 73462330-73462333, 73462335-73462338, 73464774-73464810, 73464860-73464866, 73464875-73464887, 73472434, 73490279, 73490281-73490284, 73490297-73490299, 73490327, 73494081, 73499404-73499439, 73499467-73499470, 73550114-73550120, 73550160-73550164, 73550170, 73550997, 73551076-73551085, 73552969, 73556923-73556924, 73574901, 73574906-73574915 |
| 70 | VCL | 10 | 0.99823788546256 | 6 | 3405 | 75758105-75758110 |
| 71 | LDB3 | 10 | 0.95650183150183 | 95 | 2184 | 88466302-88466330, 88466356, 88466400, 88466465, 88476084-88476087, 88476145, 88476170-88476188, 88476214-88476233, 88476395, 88476401, 88476475-88476491 |
| 72 | GLUD1 | 10 | 0.96422182468694 | 60 | 1677 | 88854129-88854135, 88854415-88854425, 88854453, 88854457-88854463, 88854469-88854502 |
| 73 | HPS1 | 10 | 0.9639126305793 | 76 | 2106 | 100177364-100177400, 100177403-100177407, 100177411-100177419, 100189548-100189572 |
| 74 | HPS6 | 10 | 0.97594501718213 | 56 | 2328 | 103825319, 103825352, 103825442-103825446, 103825449-103825465, 103825498-103825502, 103825691-103825699, 103825743-103825744, 103826015-103826026, 103826238, 103826512-103826514 |
| 75 | EMX2 | 10 | 0.96442687747036 | 27 | 759 | 119302934-119302960 |
| 76 | BAG3 | 10 | 0.9994212962963 | 1 | 1728 | 121436228 |
| 77 | HTRA1 | 10 | 0.74428274428274 | 369 | 1443 | 124221169-124221176, 124221183-124221258, 124221265-124221311, 124221320-124221390, 124221397-124221464, 124221471-124221507, 124221561-124221577, 124221586-124221617, 124221628-124221640 |
| 78 | UROS | 10 | 0.98872180451128 | 9 | 798 | 127477437-127477445 |
| 79 | HRAS | 11 | 0.67719298245614 | 184 | 570 | 532636-532637, 532669-532675, 532694-532716, 532736-532737, 532745, 533505, 533529, 533766-533786, 533824, 533833-533878, 533934-533944, 534224-534252, 534279-534285, 534291-534322 |
| 80 | TALDO1 | 11 | 0.78402366863905 | 219 | 1014 | 747482-747515, 747525, 747545-747578, 758966, 759015-759018, 763344-763364, 763374, 763393, 763406-763435, 763453-763459, 763499, 763768-763772, 763780, 763810, 763844-763845, 763878-763908, 763921-763924, 763930, 763934-763941, 764337-764350, 764392-764408 |
| 81 | SLC25A22 | 11 | 0.15432098765432 | 822 | 972 | 791915-791963, 791983-792020, 792029-792031, 792033, 792044-792068, 792142-792161, 792170-792175, 792181-792204, 792209, 792305-792407, 792423, 792435-792458, 792553-792727, 792870-792988, 793529-793559, 793566-793587, 793594, 793619, 794458-794511, 794776-794865, 794873-794885, 794891, 794987-795006 |
| 82 | PNPLA2 | 11 | 0.56699669966997 | 656 | 1515 | 819719-819756, 819775-819778, 819780-819783, 819790-819905, 821636-821638, 821730-821755, 821811, 821824, 821965-821966, 821994-821997, 822465-822492, 823527, 823539-823540, 823702-823748, 823784, 823829-823832, 823835, 823840-823843, 823998, 824011-824017, 824025-824039, 824051-824071, 824097-824120, 824328, 824364, 824373, 824394-824436, 824525-824556, 824572-824618, 824657-824685, 824711-824813, 824819-824862 |
| 83 | CTSD | 11 | 0.36319612590799 | 789 | 1239 | 1774733-1774785, 1774791-1774792, 1774804-1774815, 1774835, 1774854-1774900, 1775033-1775131, 1775224-1775250, 1775260-1775326, 1775347-1775368, 1776145, 1778570-1778576, 1778584-1778589, 1778599-1778638, 1778734-1778742, 1778751-1778753, 1778778, 1778781, 1780199-1780317, 1780746, 1780758-1780770, 1780802-1780869, 1782539-1782590, 1782616-1782639, 1782647-1782692, 1785022-1785089 |
| 84 | TNNI2 | 11 | 0.86338797814208 | 75 | 549 | 1861454-1861466, 1861635-1861659, 1861758-1861760, 1861768, 1861783, 1861802-1861804, 1861858, 1861861-1861862, 1862078-1862093, 1862261-1862266, 1862373-1862376 |
| 85 | TNNT3 | 11 | 0.16473616473616 | 649 | 777 | 1946329-1946346, 1947925-1947939, 1950357-1950358, 1950369-1950373, 1951040-1951051, 1951057-1951058, 1953699-1953721, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955786, 1955796-1955814, 1955825-1955829, 1955837-1955844, 1955853-1955885, 1956059-1956149, 1958193-1958233, 1959668-1959722 |
| 86 | H19 | 11 | 0.99813258636788 | 2 | 1071 | 2017829, 2017834 |
| 87 | IGF2 | 11 | 0.12095639943741 | 625 | 711 | 2154217-2154453, 2154761-2154895, 2156599-2156610, 2156616, 2156633-2156665, 2156672-2156699, 2156722, 2156734-2156756, 2161365-2161519 |
| 88 | TH | 11 | 0.12571428571429 | 1377 | 1575 | 2185463-2185622, 2186462-2186595, 2186898-2186993, 2187244-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189102, 2189112-2189163, 2189337-2189409, 2189721-2189757, 2189767-2189838, 2189856-2189895, 2190893-2190938, 2190948-2190975, 2190984-2190988, 2191000-2191036, 2191040-2191089, 2191101, 2191920-2192000, 2192952-2192960, 2192970 |
| 89 | KCNQ1 | 11 | 0.7754800590842 | 456 | 2031 | 2466329-2466714, 2592561-2592567, 2593278-2593284, 2594143-2594155, 2604682-2604691, 2606473, 2606477-2606481, 2606537, 2610062-2610084, 2869105, 2869145, 2869156 |
| 90 | CDKN1C | 11 | 0.037854889589905 | 915 | 951 | 2905234-2905359, 2905900-2905991, 2905999-2906531, 2906549-2906679, 2906687-2906719 |
| 91 | HBD | 11 | 0.98423423423423 | 7 | 444 | 5255652-5255658 |
| 92 | SMPD1 | 11 | 0.99683544303797 | 6 | 1896 | 6411931-6411936 |
| 93 | SBF2 | 11 | 0.9972972972973 | 15 | 5550 | 9838404-9838418 |
| 94 | KCNJ11 | 11 | 0.99744245524297 | 3 | 1173 | 17408776, 17408917, 17409321 |
| 95 | ABCC8 | 11 | 0.98883270122208 | 53 | 4746 | 17498176-17498180, 17498276-17498323 |
| 96 | HPS5 | 11 | 0.99970501474926 | 1 | 3390 | 18339332 |
| 97 | LDHA | 11 | 0.996996996997 | 3 | 999 | 18422409-18422411 |
| 98 | SLC6A5 | 11 | 0.99958228905597 | 1 | 2394 | 20623007 |
| 99 | FANCF | 11 | 0.99644444444444 | 4 | 1125 | 22646995-22646998 |
| 100 | WT1 | 11 | 0.89189189189189 | 168 | 1554 | 32449545, 32456337-32456353, 32456484, 32456487, 32456522, 32456528, 32456533-32456534, 32456568, 32456571, 32456592-32456634, 32456647-32456693, 32456706-32456708, 32456717-32456757, 32456794-32456797, 32456843-32456846 |
| 101 | ALX4 | 11 | 0.99919093851133 | 1 | 1236 | 44286610 |
| 102 | SLC35C1 | 11 | 0.99147727272727 | 9 | 1056 | 45827668-45827669, 45827869, 45832535, 45832538-45832542 |
| 103 | PEX16 | 11 | 0.95581171950048 | 46 | 1041 | 45935733, 45935736, 45937364, 45937367-45937372, 45939252-45939288 |
| 104 | F2 | 11 | 0.97057249866239 | 55 | 1869 | 46747418-46747429, 46747439-46747455, 46747616, 46749563-46749583, 46750337-46750339, 46750369 |
| 105 | MADD | 11 | 0.9993932038835 | 3 | 4944 | 47306502-47306504 |
| 106 | MYBPC3 | 11 | 0.9362091503268 | 244 | 3825 | 47354142, 47354482, 47367829, 47367835, 47367895-47367909, 47367917-47367921, 47368983-47369003, 47369448-47369451, 47370006-47370010, 47370023, 47370040-47370045, 47370068-47370092, 47371333-47371364, 47371429-47371434, 47371445-47371454, 47371460-47371473, 47371572-47371602, 47371647, 47371651-47371652, 47372790-47372792, 47372897-47372926, 47373014-47373042 |
| 107 | SLC39A13 | 11 | 0.95967741935484 | 45 | 1116 | 47436401-47436436, 47436601-47436609 |
| 108 | RAPSN | 11 | 0.99273607748184 | 9 | 1239 | 47459545-47459551, 47460289, 47460306 |
| 109 | BEST1 | 11 | 0.99658703071672 | 6 | 1758 | 61723276, 61723281-61723284, 61723384 |
| 110 | BSCL2 | 11 | 0.9719222462203 | 39 | 1389 | 62472930-62472968 |
| 111 | SLC22A12 | 11 | 0.37424789410349 | 1040 | 1662 | 64359055-64359062, 64359067-64359083, 64359093-64359115, 64359127-64359175, 64359211-64359224, 64359229-64359240, 64359261-64359270, 64359286, 64359313-64359333, 64359347, 64359353, 64359364-64359365, 64359374-64359423, 64359427-64359429, 64360251-64360260, 64360267-64360288, 64360300-64360303, 64360312-64360333, 64360877-64360882, 64360893-64360894, 64360909-64360944, 64360948-64360951, 64360961-64360973, 64361001-64361023, 64361030-64361031, 64361107-64361138, 64361148-64361198, 64361224-64361242, 64361258-64361275, 64365988-64366041, 64366056-64366111, 64366283-64366347, 64366386-64366395, 64367148-64367216, 64367224-64367362, 64367852-64367885, 64367925-64367947, 64368209-64368291, 64368328-64368353, 64368391, 64368401-64368402, 64368407, 64368995 |
| 112 | PYGM | 11 | 0.93040727560301 | 176 | 2529 | 64518812, 64521000-64521001, 64521025-64521050, 64521093, 64521108-64521111, 64521114-64521115, 64521139-64521154, 64521351-64521371, 64521393-64521402, 64521407-64521411, 64521422-64521426, 64521430, 64521770-64521771, 64521787, 64522209, 64522304, 64526089, 64526131-64526149, 64527128-64527130, 64527138-64527190, 64527338 |
| 113 | MEN1 | 11 | 0.8982683982684 | 188 | 1848 | 64572018, 64572042, 64572046, 64572049-64572051, 64572085, 64572135-64572177, 64572552-64572562, 64572567, 64573162-64573164, 64573208, 64575031-64575034, 64577174-64577176, 64577179, 64577259-64577307, 64577329, 64577363-64577377, 64577461, 64577487-64577519, 64577555-64577563, 64577570-64577575 |
| 114 | CST6 | 11 | 0.99777777777778 | 1 | 450 | 65780301 |
| 115 | SPTBN2 | 11 | 0.97755471908546 | 161 | 7173 | 66454968-66454974, 66468041, 66468092-66468099, 66468122, 66468127-66468131, 66468297, 66468309, 66468384, 66468388, 66468394-66468399, 66468404, 66468427, 66468503, 66468527-66468532, 66468547, 66472274, 66472290, 66472582-66472587, 66472625-66472632, 66472686-66472687, 66472760-66472765, 66472934, 66473247, 66473298, 66474987, 66475043, 66475053-66475054, 66475079-66475085, 66475099, 66475159-66475165, 66475240-66475261, 66475653-66475695, 66475736, 66476393, 66478097, 66483322-66483326 |
| 116 | PC | 11 | 0.69437376307605 | 1081 | 3537 | 66616378, 66616381, 66616408, 66616463-66616482, 66616532, 66616704-66616706, 66616724-66616753, 66616789, 66616802-66616805, 66616829-66616841, 66617098-66617099, 66617118-66617152, 66617196-66617209, 66617250-66617271, 66617323-66617326, 66617408-66617413, 66617459, 66617477-66617479, 66617544-66617548, 66617719, 66617757, 66617798, 66617822-66617828, 66617876-66617898, 66617911-66617918, 66618147-66618195, 66618212, 66618249-66618273, 66618289-66618324, 66618362-66618384, 66618393-66618394, 66618542-66618587, 66618593-66618595, 66618598-66618600, 66618603-66618607, 66618655-66618657, 66618665-66618681, 66618704-66618709, 66618712, 66619928, 66619936-66619947, 66619974-66620012, 66620047-66620078, 66620096-66620125, 66620231, 66620771-66620818, 66620828-66620834, 66631245-66631266, 66631298-66631353, 66631412-66631417, 66633661-66633724, 66633740-66633741, 66633777, 66633785, 66636317-66636318, 66637785-66637803, 66637809-66637811, 66637846-66637863, 66637866-66637867, 66637873-66637876, 66638279-66638283, 66638287-66638290, 66638335-66638351, 66638356, 66638526-66638552, 66638554-66638559, 66638576-66638585, 66638613, 66638627-66638657, 66638663-66638668, 66638848, 66638862-66638910, 66638941-66638951, 66639160-66639199, 66639210-66639213, 66639215-66639220, 66639324, 66639341-66639342, 66639495-66639503, 66639560-66639590, 66639610-66639630 |
| 117 | CABP4 | 11 | 0.78864734299517 | 175 | 828 | 67222918-67222964, 67223012-67223018, 67223078-67223080, 67223128, 67223131, 67223164-67223180, 67223188, 67223659-67223674, 67223679-67223681, 67223850-67223893, 67225912, 67225921, 67225936-67225940, 67225943-67225950, 67225953-67225970, 67225978, 67226110 |
| 118 | AIP | 11 | 0.20845921450151 | 786 | 993 | 67254477-67254479, 67254496-67254545, 67254570-67254587, 67254649, 67256738-67256926, 67257509-67257685, 67257787-67257928, 67258259-67258464 |
| 119 | NDUFS8 | 11 | 0.89889415481833 | 64 | 633 | 67799669, 67799795-67799799, 67800433-67800471, 67800675-67800678, 67800687-67800689, 67800708, 67800713-67800720, 67803743-67803744, 67804010 |
| 120 | TCIRG1 | 11 | 0.82711592458885 | 431 | 2493 | 67808764-67808773, 67808812-67808828, 67809220-67809223, 67810114-67810127, 67810134-67810144, 67810198-67810203, 67810268-67810298, 67810433-67810445, 67810456-67810462, 67810494-67810498, 67810887-67810905, 67810959-67810962, 67811114-67811120, 67811313-67811349, 67811353, 67811599-67811615, 67811637, 67811651-67811654, 67811657, 67811669, 67811792-67811811, 67812528-67812535, 67814909-67814919, 67815002-67815012, 67815152-67815156, 67815250, 67816402-67816413, 67816578-67816612, 67816718, 67816727-67816734, 67817184-67817202, 67817209-67817221, 67817227-67817239, 67817251-67817254, 67817456, 67817480-67817494, 67817507-67817509, 67817514, 67817520-67817525, 67817625-67817627, 67817981-67818001, 67818011, 67818082-67818086, 67818219-67818222 |
| 121 | LRP5 | 11 | 0.74422442244224 | 1240 | 4848 | 68080183-68080271, 68115668-68115686, 68125126, 68125269-68125272, 68125278, 68131237-68131239, 68131244-68131247, 68131297-68131304, 68131315-68131317, 68131326-68131338, 68131361-68131362, 68131387-68131411, 68133049, 68133133-68133150, 68153941-68153948, 68154016-68154063, 68154141-68154180, 68170985-68171022, 68171027-68171042, 68171081, 68171092-68171156, 68171165, 68174075-68174093, 68174116-68174146, 68174240-68174274, 68177382-68177389, 68177491-68177516, 68177527-68177536, 68178904-68178937, 68178956, 68179071-68179088, 68181187, 68181214-68181227, 68181273, 68181318-68181324, 68181337-68181387, 68181412, 68181457-68181480, 68183818-68183823, 68183859, 68191020-68191021, 68191029, 68191139, 68191157-68191164, 68192576-68192578, 68192585, 68192655, 68192684-68192702, 68193519-68193539, 68193608-68193611, 68197142-68197160, 68201096-68201116, 68201184, 68201225-68201284, 68201304, 68204357-68204371, 68204377, 68204400, 68204411, 68204417-68204419, 68204437, 68204446-68204453, 68204459-68204467, 68205985-68205986, 68205990-68205998, 68206004-68206048, 68206063-68206098, 68206126, 68206134, 68207245-68207284, 68207300, 68207310-68207315, 68207345-68207384, 68213904-68213928, 68213965-68213991, 68216284, 68216302-68216340, 68216351-68216353, 68216400, 68216408, 68216415-68216425, 68216450-68216475, 68216485-68216490, 68216513-68216518, 68216522-68216536 |
| 122 | CPT1A | 11 | 0.97932816537468 | 48 | 2322 | 68527693-68527718, 68552284-68552305 |
| 123 | IGHMBP2 | 11 | 0.98088531187123 | 57 | 2982 | 68671445-68671470, 68671477-68671479, 68696733-68696759, 68703959 |
| 124 | DHCR7 | 11 | 0.98459383753501 | 22 | 1428 | 71146521-71146540, 71146577, 71146626 |
| 125 | MYO7A | 11 | 0.68607099879663 | 2087 | 6648 | 76841695-76841698, 76853755-76853773, 76853810-76853816, 76853852, 76858853-76858854, 76858890, 76858899-76858945, 76858953-76858996, 76866953-76866956, 76867984-76867986, 76867999, 76868002-76868004, 76868012-76868019, 76868027, 76868046, 76868372, 76868437, 76869323-76869327, 76869457-76869476, 76873263, 76873273-76873284, 76873350-76873363, 76873899-76873912, 76874006-76874026, 76877183-76877191, 76883794-76883931, 76885802-76885960, 76886418-76886510, 76888595-76888637, 76888647-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895640, 76895677, 76895697, 76895720-76895745, 76895757, 76900389-76900398, 76900408-76900411, 76900414, 76900445-76900452, 76900459, 76900462, 76900478-76900480, 76900514-76900515, 76901065-76901074, 76901091, 76901102, 76901105-76901110, 76901125-76901184, 76901759, 76901775, 76901809, 76901819, 76901824, 76901845-76901847, 76901863-76901864, 76901883-76901906, 76903147-76903153, 76903158, 76903181, 76903208, 76903224-76903257, 76903267-76903291, 76903321, 76908627-76908643, 76909549, 76909559-76909560, 76909569, 76909575, 76909585, 76919779, 76922304 |
| 126 | ALG8 | 11 | 0.99367488931056 | 10 | 1581 | 77820488-77820497 |
| 127 | MTMR2 | 11 | 0.99741200828157 | 5 | 1932 | 95657107-95657111 |
| 128 | DYNC2H1 | 11 | 0.99976825028969 | 3 | 12945 | 103043968-103043970 |
| 129 | ACAT1 | 11 | 0.99922118380062 | 1 | 1284 | 108002634 |
| 130 | PTS | 11 | 0.99771689497717 | 1 | 438 | 112097167 |
| 131 | DRD2 | 11 | 0.9984984984985 | 2 | 1332 | 113281449-113281450 |
| 132 | APOA1 | 11 | 0.99129353233831 | 7 | 804 | 116706720, 116706802-116706807 |
| 133 | FXYD2 | 11 | 0.62557077625571 | 164 | 438 | 117693034-117693040, 117693101-117693130, 117693241-117693298, 117693325, 117693328-117693330, 117693337-117693339, 117693347-117693349, 117693393-117693432, 117695375-117695393 |
| 134 | TECTA | 11 | 0.99891724671307 | 7 | 6465 | 120989164-120989166, 120989178, 120989188, 120989305-120989306 |
| 135 | ROBO3 | 11 | 0.99543378995434 | 19 | 4161 | 124735490-124735493, 124735578-124735581, 124738888, 124738931-124738940 |
| 136 | ACAD8 | 11 | 0.99599358974359 | 5 | 1248 | 134129511, 134129515-134129518 |
| 137 | WNK1 | 12 | 0.99678276682053 | 23 | 7149 | 862888-862910 |
| 138 | CACNA2D4 | 12 | 0.99912126537786 | 3 | 3414 | 1904871-1904873 |
| 139 | CACNA1C | 12 | 0.9949702789209 | 33 | 6561 | 2676744, 2794934-2794940, 2797833-2797850, 2797945, 2800307, 2800352-2800356 |
| 140 | VWF | 12 | 0.96304193319119 | 312 | 8442 | 6122647-6122650, 6125328-6125375, 6125722-6125728, 6125801-6125819, 6127532-6127538, 6127655-6127661, 6127726-6127744, 6127865-6127871, 6128064-6128087, 6128167-6128174, 6128228-6128263, 6128339-6128357, 6128449-6128451, 6128476-6128508, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166080-6166084 |
| 141 | TPI1 | 12 | 0.79466666666667 | 154 | 750 | 6976731-6976764, 6976788-6976818, 6976825-6976845, 6978063-6978104, 6978428, 6978852, 6978906-6978908, 6979248-6979268 |
| 142 | ATN1 | 12 | 0.99916036943745 | 3 | 3573 | 7045892-7045894 |
| 143 | CDKN1B | 12 | 0.96817420435511 | 19 | 597 | 12871049-12871065, 12871127-12871128 |
| 144 | ABCC9 | 12 | 0.99956989247312 | 2 | 4650 | 22025633-22025634 |
| 145 | KRAS | 12 | 0.98947368421053 | 6 | 570 | 25380187, 25380291-25380295 |
| 146 | DNM1L | 12 | 0.99819086386251 | 4 | 2211 | 32854460-32854461, 32866252, 32866295 |
| 147 | PKP2 | 12 | 0.97732696897375 | 57 | 2514 | 33049443-33049453, 33049465-33049471, 33049495-33049501, 33049545-33049561, 33049619-33049633 |
| 148 | LRRK2 | 12 | 0.99736286919831 | 20 | 7584 | 40618934, 40626085-40626087, 40629499, 40629502, 40629505, 40637415-40637418, 40646781-40646785, 40761522-40761525 |
| 149 | MLL2 | 12 | 0.98236427109667 | 293 | 16614 | 49425798-49425802, 49426149-49426163, 49426622-49426642, 49426726-49426798, 49426852-49426871, 49427034-49427062, 49427114-49427121, 49427252, 49427315-49427323, 49427628-49427638, 49427649-49427685, 49431247-49431275, 49431287-49431288, 49431291-49431293, 49431498-49431500, 49431749-49431758, 49431834-49431842, 49431907-49431908, 49433323-49433325, 49434039-49434040, 49434050 |
| 150 | TUBA1A | 12 | 0.96929824561404 | 14 | 456 | 49522235-49522241, 49522383-49522389 |
| 151 | AQP2 | 12 | 0.98529411764706 | 12 | 816 | 50347941-50347944, 50347947, 50349293-50349299 |
| 152 | KRT81 | 12 | 0.96376811594203 | 55 | 1518 | 52684022-52684058, 52684899-52684905, 52685172-52685181, 52685193 |
| 153 | KRT86 | 12 | 0.9678302532512 | 47 | 1461 | 52696045-52696051, 52696893-52696932 |
| 154 | AAAS | 12 | 0.9981718464351 | 3 | 1641 | 53703053, 53708550, 53708606 |
| 155 | ITGA7 | 12 | 0.99591360186807 | 14 | 3426 | 56101429-56101442 |
| 156 | RPS26 | 12 | 0.98563218390805 | 5 | 348 | 56436351-56436355 |
| 157 | CYP27B1 | 12 | 0.99934512115259 | 1 | 1527 | 58159900 |
| 158 | TSFM | 12 | 0.99897750511247 | 1 | 978 | 58176614 |
| 159 | CEP290 | 12 | 0.99744623655914 | 19 | 7440 | 88519073-88519085, 88535007-88535012 |
| 160 | TMPO | 12 | 0.98752997601918 | 26 | 2085 | 98909790-98909791, 98909838-98909841, 98909886-98909895, 98927911, 98927914-98927919, 98928073-98928074, 98928078 |
| 161 | GNPTAB | 12 | 0.99814372845399 | 7 | 3771 | 102224433-102224439 |
| 162 | UNG | 12 | 0.99363057324841 | 6 | 942 | 109535559, 109535563-109535567 |
| 163 | ATP2A2 | 12 | 0.99744327261106 | 8 | 3129 | 110719599, 110719666-110719672 |
| 164 | ATXN2 | 12 | 0.86681887366819 | 525 | 3942 | 112036588-112036606, 112036616, 112036619-112036621, 112036627-112036630, 112036646-112036665, 112036679-112036838, 112036847-112036881, 112036890-112036896, 112036907-112036933, 112036951-112037090, 112037109, 112037120-112037144, 112037197-112037232, 112037256-112037302 |
| 165 | SDS | 12 | 0.99290780141844 | 7 | 987 | 113835104-113835106, 113836573-113836576 |
| 166 | HNF1A | 12 | 0.93301687763713 | 127 | 1896 | 121416600-121416606, 121416617-121416651, 121416693-121416700, 121416842, 121434358-121434361, 121434367, 121434372-121434376, 121435323-121435324, 121435330, 121435342, 121437359-121437370, 121437382-121437408, 121438886-121438908 |
| 167 | HPD | 12 | 0.9839255499154 | 19 | 1182 | 122285100, 122286965, 122286981, 122292686-122292687, 122294278-122294291 |
| 168 | PUS1 | 12 | 0.87928348909657 | 155 | 1284 | 132414275-132414281, 132414286-132414295, 132414318, 132414331-132414334, 132414452-132414460, 132414471-132414501, 132414508-132414559, 132414574-132414598, 132414680, 132425976-132425982, 132425992, 132426008-132426010, 132426319, 132426400-132426401, 132426433 |
| 169 | PDX1 | 13 | 0.99647887323944 | 3 | 852 | 28494591-28494593 |
| 170 | B3GALTL | 13 | 0.97127588510354 | 43 | 1497 | 31774222-31774243, 31774271-31774291 |
| 171 | FREM2 | 13 | 0.98769716088328 | 117 | 9510 | 39261530, 39261533-39261534, 39261564-39261592, 39261617-39261649, 39261686-39261687, 39261846-39261849, 39261907-39261937, 39261965, 39261968-39261976, 39261994-39261998 |
| 172 | SLC25A15 | 13 | 0.99227373068433 | 7 | 906 | 41382658-41382664 |
| 173 | SUCLA2 | 13 | 0.9985632183908 | 2 | 1392 | 48528294, 48528367 |
| 174 | RB1 | 13 | 0.99820595622533 | 5 | 2787 | 48878113-48878115, 49039181, 49039186 |
| 175 | GPC6 | 13 | 0.99820143884892 | 3 | 1668 | 93879847, 93879868-93879869 |
| 176 | ZIC2 | 13 | 0.88868042526579 | 178 | 1599 | 100634390-100634412, 100634465-100634468, 100634591, 100634594-100634602, 100634682-100634693, 100634828-100634829, 100635008-100635013, 100635063-100635065, 100637631-100637633, 100637702-100637722, 100637758-100637761, 100637801-100637870, 100637879-100637889, 100637918-100637926 |
| 177 | PCCA | 13 | 0.99039780521262 | 21 | 2187 | 100741409, 100741418-100741423, 101101506-101101519 |
| 178 | COL4A1 | 13 | 0.99021956087824 | 49 | 5010 | 110959322-110959368, 110959373-110959374 |
| 179 | F7 | 13 | 0.1438202247191 | 1143 | 1335 | 113760156-113760219, 113765004-113765128, 113765142-113765164, 113768081-113768090, 113768168-113768215, 113768242-113768272, 113769974-113770107, 113771085, 113771094-113771113, 113771128-113771129, 113771154-113771189, 113771787-113771802, 113771816-113771836, 113771855-113771910, 113772727-113773014, 113773024-113773049, 113773060-113773095, 113773117-113773322 |
| 180 | F10 | 13 | 0.63122017723245 | 541 | 1467 | 113777170-113777189, 113777201-113777202, 113777209-113777239, 113798224-113798233, 113798292-113798332, 113798344-113798407, 113801756, 113801772-113801779, 113803230-113803242, 113803269-113803270, 113803292-113803316, 113803334-113803432, 113803456-113803465, 113803491-113803497, 113803521-113803592, 113803599-113803689, 113803700, 113803726-113803753, 113803777-113803780, 113803801-113803811, 113803831 |
| 181 | GRK1 | 13 | 0.83156028368794 | 285 | 1692 | 114321726, 114321730-114321731, 114321753-114321795, 114321821, 114321847-114321848, 114321853, 114321857-114321861, 114321892, 114321906-114321934, 114321946-114321978, 114322026, 114322046, 114322134-114322179, 114322207-114322254, 114322358-114322372, 114325822-114325823, 114325866-114325867, 114325870-114325872, 114325941-114325971, 114426047-114426061, 114426065, 114426077-114426078 |
| 182 | RPGRIP1 | 14 | 0.997927997928 | 8 | 3861 | 21769371, 21802849-21802855 |
| 183 | PABPN1 | 14 | 0.92399565689468 | 70 | 921 | 23790700-23790714, 23790917-23790964, 23791005, 23791008-23791013 |
| 184 | NRL | 14 | 0.89635854341737 | 74 | 714 | 24550526-24550528, 24550555, 24550595-24550641, 24550690-24550691, 24551719-24551736, 24551895-24551896, 24552024 |
| 185 | PCK2 | 14 | 0.99947997919917 | 1 | 1923 | 24572446 |
| 186 | TINF2 | 14 | 0.96976401179941 | 41 | 1356 | 24711485-24711525 |
| 187 | FOXG1 | 14 | 0.69659863945578 | 446 | 1470 | 29236532-29236540, 29236586, 29236620-29236964, 29237035-29237083, 29237093-29237096, 29237177, 29237219, 29237266-29237270, 29237287-29237290, 29237303-29237326, 29237634, 29237637, 29237773 |
| 188 | COCH | 14 | 0.99334543254688 | 11 | 1653 | 31344173-31344178, 31344270-31344272, 31344278, 31344284 |
| 189 | CFL2 | 14 | 0.9940119760479 | 3 | 501 | 35183744-35183746 |
| 190 | NKX2-1 | 14 | 0.90464344941957 | 115 | 1206 | 36986599-36986602, 36986667, 36986692-36986709, 36986821-36986845, 36986864-36986905, 36986912-36986922, 36986925-36986927, 36986967, 36988362-36988364, 36988367-36988373 |
| 191 | MGAT2 | 14 | 0.99627976190476 | 5 | 1344 | 50088124-50088127, 50088133 |
| 192 | C14orf104 | 14 | 0.94033412887828 | 150 | 2514 | 50100595, 50100603-50100605, 50100609, 50100630-50100637, 50100683-50100687, 50100725, 50100876-50100884, 50100944-50100951, 50100963, 50100983-50100985, 50101053, 50101113-50101145, 50101278, 50101370, 50101415-50101430, 50101462, 50101465, 50101470, 50101526-50101571, 50101795-50101803 |
| 193 | PYGL | 14 | 0.99921383647799 | 2 | 2544 | 51410947, 51411120 |
| 194 | GCH1 | 14 | 0.78486055776892 | 162 | 753 | 55369084-55369090, 55369113-55369138, 55369146-55369161, 55369213-55369247, 55369255-55369301, 55369338-55369368 |
| 195 | VSX2 | 14 | 0.92817679558011 | 78 | 1086 | 74706366-74706368, 74706381-74706393, 74706404-74706427, 74706431-74706432, 74706449-74706477, 74706479-74706482, 74706485-74706486, 74706511 |
| 196 | ESRRB | 14 | 0.99279633267845 | 11 | 1527 | 76964692, 76964695-76964704 |
| 197 | POMT2 | 14 | 0.94185530403906 | 131 | 2253 | 77786777-77786795, 77786821-77786824, 77786847-77786888, 77786924-77786937, 77786958-77787009 |
| 198 | ATXN3 | 14 | 0.99723756906077 | 3 | 1086 | 92537355-92537357 |
| 199 | AMN | 14 | 0.047723935389134 | 1297 | 1362 | 103389033-103389068, 103390051, 103390058-103390099, 103390103-103390105, 103390117-103390143, 103390151-103390153, 103390163-103390166, 103390272-103390303, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992, 103395999-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017 |
| 200 | INF2 | 14 | 0.18346666666667 | 3062 | 3750 | 105167703-105167739, 105167774-105167801, 105167807, 105167824-105168023, 105168037-105168062, 105168073-105168093, 105169442-105169443, 105169458, 105169525-105169528, 105169632-105169699, 105169724-105169770, 105170253-105170276, 105170280, 105172372-105172462, 105172469-105172510, 105173247-105173258, 105173282-105173293, 105173299-105173355, 105173358-105173362, 105173371, 105173381-105173386, 105173590-105173605, 105173627, 105173651, 105173655, 105173683-105173688, 105173691-105173696, 105173708-105173738, 105173744-105174339, 105174773-105174924, 105175008-105175069, 105175618-105175654, 105175675-105175695, 105175701-105175707, 105175715-105175716, 105175720, 105175957-105176042, 105176425-105176525, 105177274-105177300, 105177337-105177344, 105177416-105177523, 105177993-105178022, 105178036, 105178770-105178856, 105178880-105178890, 105179165-105179329, 105179544-105179646, 105179782-105179883, 105179891-105179943, 105180540-105180550, 105180565, 105180576-105180587, 105180593, 105180636-105180842, 105180848-105180871, 105180880-105180994, 105181007-105181036, 105181042-105181193, 105181633 |
| 201 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 202 | OCA2 | 15 | 0.99960270162892 | 1 | 2517 | 28273141 |
| 203 | TRPM1 | 15 | 0.99875311720698 | 6 | 4812 | 31332373-31332378 |
| 204 | IVD | 15 | 0.9672131147541 | 42 | 1281 | 40698023-40698047, 40698139-40698155 |
| 205 | CHST14 | 15 | 0.97082228116711 | 33 | 1131 | 40763479, 40763504, 40763512-40763542 |
| 206 | STRC | 15 | 0.98761261261261 | 66 | 5328 | 43896303-43896312, 43900150-43900156, 43907745-43907751, 43910440, 43910863-43910903 |
| 207 | STRC | 15 | 0.99641025641026 | 7 | 1950 | 44007207-44007213 |
| 208 | SPG11 | 15 | 0.99795417348609 | 15 | 7332 | 44859734-44859740, 44912444, 44914060-44914065, 44918637 |
| 209 | DUOX2 | 15 | 0.99397460727351 | 28 | 4647 | 45403309, 45403328, 45403393-45403397, 45403582-45403597, 45403620-45403621, 45404061-45404063 |
| 210 | GATM | 15 | 0.9937106918239 | 8 | 1272 | 45670612-45670619 |
| 211 | CLN6 | 15 | 0.99358974358974 | 6 | 936 | 68500489-68500494 |
| 212 | HEXA | 15 | 0.98867924528302 | 18 | 1590 | 72668274-72668291 |
| 213 | HCN4 | 15 | 0.82862679955703 | 619 | 3612 | 73614891-73614894, 73615107-73615114, 73615147-73615178, 73615247, 73615595-73615602, 73615741, 73615868, 73615871-73615875, 73615915, 73616144-73616156, 73616465, 73659842-73659863, 73659957-73659998, 73660005-73660016, 73660022-73660025, 73660028, 73660034-73660038, 73660064-73660075, 73660104-73660206, 73660235-73660278, 73660285-73660287, 73660291-73660296, 73660304-73660467, 73660473-73660537, 73660551-73660611 |
| 214 | MPI | 15 | 0.99056603773585 | 12 | 1272 | 75182891-75182902 |
| 215 | PSTPIP1 | 15 | 0.036770583533173 | 1205 | 1251 | 77310489-77310589, 77310798-77310820, 77310831-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517 |
| 216 | RPS17 | 15 | 0.88725490196078 | 46 | 408 | 82821268, 82822746, 82823310, 82824389-82824394, 82824427, 82824442, 82824490-82824524 |
| 217 | RPS17 | 15 | 0.84313725490196 | 64 | 408 | 83205611, 83207086-83207094, 83207653, 83208732-83208737, 83208770, 83208785, 83208823-83208867 |
| 218 | POLG | 15 | 0.99838709677419 | 6 | 3720 | 89876828-89876833 |
| 219 | MESP2 | 15 | 0.77051926298157 | 274 | 1194 | 90319589-90319624, 90319717, 90319791-90319798, 90319863-90319874, 90319908-90319941, 90319964-90319977, 90319986-90320031, 90320039-90320067, 90320108-90320176, 90320182-90320188, 90320353-90320370 |
| 220 | BLM | 15 | 0.96567936060179 | 146 | 4254 | 91326096, 91337397-91337420, 91337457-91337458, 91337461-91337476, 91337532-91337558, 91337573-91337587, 91346788-91346795, 91352410, 91354468, 91354476-91354478, 91354481-91354485, 91354498-91354500, 91354507, 91354513-91354516, 91354533, 91354540-91354543, 91354622, 91354631, 91358412-91358415, 91358441-91358454, 91358465-91358468, 91358504-91358509 |
| 221 | IGF1R | 15 | 0.99975633528265 | 1 | 4104 | 99192900 |
| 222 | HBZ | 16 | 0.56177156177156 | 188 | 429 | 202957, 202963, 202975-203003, 203935-203941, 203955-203993, 204004-204025, 204041-204082, 204271-204293, 204300-204304, 204366-204377, 204393-204399 |
| 223 | HBA2 | 16 | 0.64102564102564 | 154 | 429 | 222912-223006, 223179-223197, 223204-223231, 223258, 223316-223325, 223568 |
| 224 | GNPTG | 16 | 0.80501089324619 | 179 | 918 | 1401967-1402018, 1402103-1402153, 1402240-1402243, 1402252, 1402255-1402256, 1402272-1402278, 1402281-1402307, 1411899-1411907, 1411935, 1412216-1412229, 1412279, 1412282-1412284, 1412288-1412291, 1412301, 1412306, 1412469 |
| 225 | CLCN7 | 16 | 0.47063688999173 | 1280 | 2418 | 1496632-1496714, 1497017-1497045, 1497053-1497087, 1497393-1497437, 1497450-1497493, 1497521, 1497524-1497526, 1497566-1497569, 1497656-1497715, 1498359-1498485, 1498682-1498767, 1498967-1499094, 1499277-1499328, 1500498-1500508, 1500524-1500553, 1500561-1500578, 1500586-1500629, 1500638-1500667, 1501624-1501665, 1501682-1501706, 1501711-1501712, 1501715-1501717, 1502773-1502816, 1502827-1502843, 1502846-1502847, 1502853, 1502868-1502894, 1504412, 1504424-1504430, 1504451-1504466, 1505150, 1505154-1505168, 1505182, 1505195-1505204, 1505230, 1505775, 1506118-1506124, 1506129, 1506140, 1506150-1506154, 1506163-1506188, 1506207, 1507258, 1507297-1507300, 1507333-1507338, 1507755, 1509108-1509141, 1509177-1509188, 1510871-1510874, 1510882, 1510910-1510911, 1511446, 1524835-1524878, 1524893-1524975 |
| 226 | IGFALS | 16 | 0.23033126293996 | 1487 | 1932 | 1840601-1840618, 1840624-1840680, 1840724-1840768, 1840774-1840775, 1840789-1840894, 1840918-1841011, 1841021-1841201, 1841218-1841318, 1841322, 1841331-1841333, 1841344-1841351, 1841359, 1841378-1841394, 1841416-1841479, 1841494-1841599, 1841606-1841615, 1841621-1841672, 1841685-1841734, 1841750-1841796, 1841814-1841828, 1841878-1841880, 1841889-1842048, 1842054-1842066, 1842078-1842081, 1842087-1842112, 1842136-1842168, 1842190-1842223, 1842233-1842258, 1842266-1842324, 1842362, 1842368-1842472, 1842479-1842516, 1843647-1843653 |
| 227 | GFER | 16 | 0.30258899676375 | 431 | 618 | 2034220-2034477, 2034748-2034787, 2034818-2034830, 2034849-2034903, 2035867-2035868, 2035872-2035882, 2035885-2035893, 2035911-2035945, 2035985, 2035991-2035993, 2035997-2035999, 2036005 |
| 228 | TSC2 | 16 | 0.2702802359882 | 3958 | 5424 | 2098646-2098695, 2098723-2098754, 2100401-2100421, 2100431-2100442, 2100478-2100484, 2103343-2103348, 2103355, 2103381-2103450, 2106676, 2108748-2108822, 2108865-2108874, 2110677-2110744, 2110753-2110814, 2111878, 2111935-2111943, 2111960-2111964, 2111988-2111994, 2112516-2112562, 2112585-2112601, 2112973-2113009, 2113031-2113035, 2113045-2113049, 2114273-2114287, 2114300-2114351, 2114374-2114428, 2115525, 2115530-2115533, 2115536-2115542, 2115555-2115588, 2115597-2115605, 2115632-2115636, 2120457-2120579, 2121512-2121617, 2121785-2121797, 2121810-2121826, 2121842-2121935, 2122251-2122252, 2122295-2122296, 2122300, 2122313, 2122334-2122364, 2122850-2122870, 2122898-2122904, 2122944-2122984, 2124226-2124234, 2124243-2124245, 2124280-2124379, 2125800-2125815, 2125854-2125889, 2126069-2126071, 2126099-2126104, 2126137-2126157, 2126504-2126526, 2126548-2126586, 2127631-2127655, 2127675, 2127684-2127727, 2129033-2129197, 2129277-2129418, 2129425-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135288, 2135298-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611 |
| 229 | PKD1 | 16 | 0.0037949194547707 | 12863 | 12912 | 2139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143658, 2143679-2143739, 2143812-2143871, 2143884-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168736, 2168747-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185485, 2185493-2185690 |
| 230 | ABCA3 | 16 | 0.78181818181818 | 1116 | 5115 | 2326687-2326697, 2326705, 2326724, 2327613-2327626, 2327665-2327671, 2327925, 2327928, 2327946-2327949, 2327974-2327980, 2327997-2328000, 2328039-2328050, 2328054-2328058, 2328323-2328350, 2328356-2328434, 2328440-2328442, 2328944-2328953, 2328966-2328968, 2328971-2329007, 2329013-2329016, 2329050-2329068, 2329090-2329114, 2331028-2331080, 2331103-2331106, 2331113, 2331118-2331152, 2331193-2331195, 2331198-2331201, 2331218-2331222, 2331382-2331477, 2331502-2331510, 2333187-2333272, 2333294-2333296, 2333331-2333336, 2333350-2333351, 2334280-2334287, 2334349-2334373, 2334394-2334401, 2334424-2334438, 2334796-2334800, 2334803-2334810, 2334866-2334867, 2334967-2334999, 2335443-2335445, 2335449-2335463, 2335526, 2335541-2335579, 2336699-2336700, 2336704-2336705, 2336934-2336937, 2336960, 2338044, 2338073-2338102, 2338191-2338204, 2339468-2339477, 2339502-2339503, 2339554, 2339567, 2339617, 2342238, 2345640-2345642, 2347330-2347344, 2347396-2347410, 2347429-2347433, 2347459, 2347462-2347482, 2347517-2347521, 2347530, 2347793-2347814, 2347855-2347858, 2347892-2347911, 2348394, 2348414-2348416, 2348524, 2348528, 2348534-2348541, 2349416-2349420, 2349425, 2349451-2349476, 2349488-2349533, 2350006-2350034, 2350052-2350109, 2354063-2354065, 2367759-2367765 |
| 231 | MEFV | 16 | 0.99744245524297 | 6 | 2346 | 3304654, 3306340-3306344 |
| 232 | SLX4 | 16 | 0.99727520435967 | 15 | 5505 | 3632594-3632608 |
| 233 | CREBBP | 16 | 0.93641697366626 | 466 | 7329 | 3777768-3777825, 3778049-3778050, 3778107, 3778129, 3778136-3778164, 3778266, 3778299-3778320, 3778382-3778406, 3778419-3778421, 3778424, 3778428-3778430, 3778436-3778467, 3778486, 3778550-3778579, 3778627-3778647, 3778676, 3778679-3778684, 3778715, 3778741-3778742, 3778796, 3778808, 3778844-3778845, 3778896-3778897, 3778941, 3778952-3778958, 3778970, 3778976, 3778983, 3779054-3779072, 3779136-3779138, 3779147-3779159, 3779173-3779222, 3779250-3779261, 3779298-3779319, 3779363-3779404, 3779457-3779498, 3779637, 3929842-3929845, 3929848 |
| 234 | GLIS2 | 16 | 0.2368253968254 | 1202 | 1575 | 4382292-4382312, 4382351-4382352, 4382358-4382362, 4382375-4382452, 4383348-4383373, 4383393-4383426, 4383472-4383489, 4383498-4383520, 4384802-4384811, 4384821-4384826, 4384834-4384838, 4384850-4384910, 4384934-4384978, 4385061-4385078, 4385099-4385130, 4385148-4385178, 4385194, 4385276-4385286, 4385289-4385307, 4385312-4385318, 4385341-4385394, 4386726-4386745, 4386779-4386839, 4386854-4386878, 4386886-4386890, 4386897-4387009, 4387041-4387274, 4387283-4387480, 4387487-4387525 |
| 235 | ALG1 | 16 | 0.92186379928315 | 109 | 1395 | 5128834-5128871, 5130969-5131005, 5131019-5131052 |
| 236 | ABCC6 | 16 | 0.85616134751773 | 649 | 4512 | 16244550, 16253366-16253369, 16256895, 16256976, 16256987-16257006, 16259506-16259557, 16259577-16259588, 16259598-16259599, 16259609-16259651, 16259684-16259723, 16259756, 16259779-16259790, 16263503-16263515, 16263541-16263590, 16263596-16263710, 16267141-16267143, 16267172-16267196, 16267218-16267261, 16269768-16269781, 16269786, 16269793-16269795, 16269801-16269830, 16271331-16271341, 16271365-16271379, 16271406-16271438, 16271465-16271469, 16272659-16272666, 16272674-16272676, 16272705, 16272743-16272756, 16272766-16272772, 16276269-16276283, 16276755, 16278823, 16282782, 16291946-16291973, 16313509-16313515, 16317270-16317273, 16317277-16317282, 16317290-16317291 |
| 237 | OTOA | 16 | 0.99327485380117 | 23 | 3420 | 21768480-21768502 |
| 238 | OTOA | 16 | 0.9929718875502 | 7 | 996 | 22584620-22584626 |
| 239 | SCNN1B | 16 | 0.99947997919917 | 1 | 1923 | 23364313 |
| 240 | COG7 | 16 | 0.9956766104626 | 10 | 2313 | 23403787, 23409374-23409376, 23409383, 23436161-23436165 |
| 241 | TUFM | 16 | 0.9780701754386 | 30 | 1368 | 28857544-28857573 |
| 242 | ATP2A1 | 16 | 0.98602794411178 | 42 | 3006 | 28890899-28890904, 28898791-28898796, 28898859, 28898862-28898866, 28900109, 28900119-28900133, 28900261-28900267, 28915502 |
| 243 | PHKG2 | 16 | 0.996723996724 | 4 | 1221 | 30760152-30760155 |
| 244 | FUS | 16 | 0.96141682479443 | 61 | 1581 | 31193881-31193899, 31195277-31195279, 31195292-31195294, 31195308, 31195660, 31196408-31196411, 31196415-31196427, 31196430-31196444, 31196447, 31196450 |
| 245 | SLC5A2 | 16 | 0.99653293709757 | 7 | 2019 | 31500010-31500012, 31500016-31500019 |
| 246 | NOD2 | 16 | 0.99807877041306 | 6 | 3123 | 50745853-50745858 |
| 247 | SALL1 | 16 | 0.99849056603774 | 6 | 3975 | 51175656-51175661 |
| 248 | MMP2 | 16 | 0.99697428139183 | 6 | 1983 | 55513392-55513397 |
| 249 | SLC12A3 | 16 | 0.9692854833495 | 95 | 3093 | 56899203-56899222, 56904035-56904041, 56913092, 56913102, 56914154, 56921860-56921870, 56921876-56921888, 56921892-56921927, 56921937-56921941 |
| 250 | CETP | 16 | 0.99527665317139 | 7 | 1482 | 57012150-57012156 |
| 251 | GPR56 | 16 | 0.9515503875969 | 100 | 2064 | 57684211, 57687230-57687235, 57687955-57687963, 57689389-57689415, 57689883-57689884, 57690455-57690477, 57691336-57691338, 57691352, 57694728, 57694732, 57695609-57695620, 57695685-57695697, 57695742 |
| 252 | CNGB1 | 16 | 0.99946751863685 | 2 | 3756 | 57918203-57918204 |
| 253 | TK2 | 16 | 0.93398268398268 | 61 | 924 | 66583864-66583868, 66583876-66583878, 66583901-66583902, 66583942, 66583946-66583948, 66583972-66584018 |
| 254 | HSD11B2 | 16 | 0.82101806239737 | 218 | 1218 | 67465152-67465324, 67465373-67465416, 67470000 |
| 255 | LCAT | 16 | 0.32350718065004 | 895 | 1323 | 67973831-67973832, 67973845-67973923, 67973935-67973937, 67973942-67973944, 67973947-67973992, 67973999-67974007, 67974021, 67974029-67974038, 67974041-67974042, 67974061-67974072, 67974097-67974121, 67974124-67974128, 67974146-67974174, 67974182-67974242, 67974264-67974266, 67974280-67974282, 67974314-67974343, 67974358-67974381, 67976266-67976267, 67976320, 67976335, 67976346-67976347, 67976350, 67976359-67976421, 67976435-67976464, 67976470-67976490, 67976574-67976669, 67976764-67976830, 67976851-67976853, 67976864-67976879, 67976959-67977012, 67977020-67977115, 67977851-67977879, 67977900-67977914, 67977926, 67977930-67977942, 67977950-67977952, 67977963-67977983, 67977992-67978004 |
| 256 | CDH3 | 16 | 0.99598393574297 | 10 | 2490 | 68679563, 68679567-68679571, 68679584, 68718598, 68721463, 68725713 |
| 257 | CDH1 | 16 | 0.99660249150623 | 9 | 2649 | 68771338-68771346 |
| 258 | CIRH1A | 16 | 0.99126637554585 | 18 | 2061 | 69167520, 69170695, 69187508, 69197063-69197077 |
| 259 | COG8 | 16 | 0.94942903752039 | 93 | 1839 | 69364753-69364763, 69364780-69364806, 69364815-69364817, 69364835-69364844, 69364849, 69364891-69364913, 69373224-69373234, 69373400-69373406 |
| 260 | AARS | 16 | 0.99724802201582 | 8 | 2907 | 70298887, 70303521-70303527 |
| 261 | GCSH | 16 | 0.9904214559387 | 5 | 522 | 81129822, 81129871-81129874 |
| 262 | GAN | 16 | 0.97770345596433 | 40 | 1794 | 81348719-81348754, 81348859-81348861, 81348875 |
| 263 | MLYCD | 16 | 0.90688259109312 | 138 | 1482 | 83932855-83932887, 83932930-83932947, 83932980-83933010, 83933040-83933041, 83933048-83933052, 83933088-83933128, 83933163, 83933190-83933196 |
| 264 | LRRC50 | 16 | 0.96602387511478 | 74 | 2178 | 84179086-84179093, 84205951-84205981, 84209657, 84209715, 84209851-84209883 |
| 265 | FOXF1 | 16 | 0.95175438596491 | 55 | 1140 | 86544207-86544224, 86544226-86544238, 86544241-86544242, 86544301-86544317, 86544921, 86544972-86544975 |
| 266 | FOXC2 | 16 | 0.49667994687915 | 758 | 1506 | 86600942-86600946, 86600976-86601014, 86601034-86601043, 86601095-86601135, 86601161-86601178, 86601265, 86601313-86601356, 86601409-86601451, 86601460-86601484, 86601492-86601542, 86601551-86601576, 86601594-86601654, 86601674-86601680, 86601686-86601739, 86601745-86601760, 86601779-86601804, 86601834-86601965, 86601978-86601982, 86601988-86602008, 86602023-86602026, 86602082-86602114, 86602157-86602199, 86602255-86602261, 86602266-86602278, 86602286, 86602291-86602292, 86602304-86602311, 86602319-86602322, 86602363-86602370, 86602377, 86602428-86602436 |
| 267 | JPH3 | 16 | 0.58566978193146 | 931 | 2247 | 87636898, 87636901, 87636946-87636952, 87677902-87677905, 87677926-87677971, 87678011-87678017, 87678130-87678144, 87678148-87678149, 87678176, 87678179-87678202, 87678297-87678322, 87678351, 87678382-87678402, 87678412, 87678441-87678449, 87678565-87678567, 87678579-87678619, 87678628-87678630, 87717748-87717751, 87717804-87717857, 87717864, 87723252-87723255, 87723260, 87723267, 87723271, 87723276, 87723281-87723284, 87723290-87723464, 87723489-87723788, 87723799, 87723838-87723841, 87723853-87723861, 87723868, 87723872, 87723876, 87723903-87724034, 87724110-87724132 |
| 268 | CYBA | 16 | 0.29251700680272 | 416 | 588 | 88709761-88709976, 88712524-88712565, 88712572-88712604, 88713163, 88713213-88713214, 88713217, 88713232, 88713235-88713246, 88713509-88713510, 88713527-88713567, 88713583, 88714454-88714458, 88714511, 88717364-88717421 |
| 269 | APRT | 16 | 0.07182320441989 | 504 | 543 | 88876106-88876248, 88876478-88876556, 88876852-88876935, 88876937-88876946, 88876964, 88877958-88878064, 88878228-88878307 |
| 270 | GALNS | 16 | 0.54939451880178 | 707 | 1569 | 88880847-88880862, 88880867-88880869, 88880880-88880933, 88884415-88884532, 88888997-88889033, 88889052-88889118, 88891175-88891208, 88891229-88891277, 88893152-88893185, 88893203, 88893207, 88893242, 88898478, 88901637-88901638, 88901641, 88901657-88901658, 88901664-88901667, 88902609-88902610, 88902660-88902667, 88904040, 88904047, 88904054, 88904113, 88904138-88904172, 88907403-88907457, 88908351-88908379, 88909114-88909122, 88909135-88909150, 88909203, 88909206, 88909220, 88909237, 88923166-88923285 |
| 271 | SPG7 | 16 | 0.98743718592965 | 30 | 2388 | 89574826-89574831, 89574837-89574845, 89574989, 89598366-89598371, 89598391, 89623484-89623490 |
| 272 | FANCA | 16 | 0.96978021978022 | 132 | 4368 | 89805028, 89805055-89805068, 89805080-89805084, 89806411-89806418, 89837011-89837026, 89837031, 89838108, 89842165-89842170, 89877355, 89882945-89883023 |
| 273 | TUBB3 | 16 | 0.58906134515891 | 556 | 1353 | 89989810-89989866, 89998979-89998999, 89999060-89999072, 90001137-90001150, 90001245-90001282, 90001328-90001336, 90001372-90001390, 90001423-90001460, 90001568-90001608, 90001630-90001674, 90001685-90001686, 90001689-90001692, 90001695, 90001706, 90001732-90001765, 90001779-90001811, 90001837-90001838, 90001867-90001878, 90001883-90001926, 90001935-90001936, 90001939-90001941, 90001950-90001971, 90001983-90001984, 90001991-90002008, 90002031-90002073, 90002096, 90002176-90002212 |
| 274 | PRPF8 | 17 | 0.99714611872146 | 20 | 7008 | 1578446-1578460, 1587789-1587793 |
| 275 | CTNS | 17 | 0.80382377389859 | 236 | 1203 | 3552182-3552185, 3558537-3558584, 3559793-3559812, 3559836-3559842, 3559853-3559856, 3559880, 3559970-3559992, 3559995-3559996, 3560015-3560018, 3560053-3560077, 3561346, 3561431-3561449, 3563172-3563175, 3563181-3563182, 3563236-3563261, 3563590, 3563911-3563914, 3563943-3563958, 3563991-3564006, 3564020-3564028 |
| 276 | CHRNE | 17 | 0.85425101214575 | 216 | 1482 | 4802157, 4802166-4802186, 4802329, 4802494-4802516, 4802570-4802600, 4802625-4802663, 4802763-4802776, 4802821-4802852, 4804089-4804099, 4804125-4804127, 4804285-4804287, 4804290-4804293, 4804349-4804356, 4804360, 4804421-4804438, 4804468-4804472, 4805378 |
| 277 | PITPNM3 | 17 | 0.95487179487179 | 132 | 2925 | 6358675-6358702, 6358726-6358745, 6358781-6358790, 6358824-6358845, 6373606-6373609, 6374482-6374489, 6374492, 6374649-6374654, 6376063-6376070, 6377814-6377815, 6381379, 6459705-6459726 |
| 278 | ACADVL | 17 | 0.99136178861789 | 17 | 1968 | 7123304, 7123324, 7123467, 7123480-7123485, 7125271-7125277, 7128339 |
| 279 | CHRNB1 | 17 | 0.99136786188579 | 13 | 1506 | 7348447-7348448, 7348456-7348464, 7348489, 7348723 |
| 280 | GUCY2D | 17 | 0.98067632850242 | 64 | 3312 | 7906382-7906399, 7906467-7906497, 7906665, 7907170-7907171, 7907196, 7907201-7907211 |
| 281 | ALOXE3 | 17 | 0.99859550561798 | 3 | 2136 | 8013251, 8013772-8013773 |
| 282 | HES7 | 17 | 0.8952802359882 | 71 | 678 | 8024892-8024904, 8024991-8025022, 8025026, 8025042-8025060, 8025124, 8025144, 8025214-8025215, 8025220, 8025230 |
| 283 | MYH2 | 17 | 0.99158942670786 | 49 | 5826 | 10424689, 10424693, 10428245-10428251, 10428345-10428351, 10429078-10429080, 10433028-10433034, 10446278-10446281, 10446415-10446433 |
| 284 | MYH3 | 17 | 0.99879787051348 | 7 | 5823 | 10554829-10554835 |
| 285 | ELAC2 | 17 | 0.99879081015719 | 3 | 2481 | 12906808-12906810 |
| 286 | TNFRSF13B | 17 | 0.9750566893424 | 22 | 882 | 16843779-16843799, 16852144 |
| 287 | FLCN | 17 | 0.98045977011494 | 34 | 1740 | 17127345, 17127433, 17131218-17131249 |
| 288 | RAI1 | 17 | 0.94895997203286 | 292 | 5721 | 17697090-17697138, 17697236-17697237, 17697244-17697245, 17697589-17697596, 17697607-17697609, 17697615-17697636, 17697700-17697742, 17697859-17697860, 17697905, 17698055, 17698058, 17698175, 17698254, 17698271-17698277, 17698641-17698642, 17698651, 17698801-17698803, 17698808-17698832, 17698860, 17698974, 17699300, 17699388-17699390, 17699509-17699510, 17699619-17699638, 17699832-17699853, 17699863, 17699998-17699999, 17700179, 17701469-17701472, 17701544-17701554, 17701557-17701559, 17701566-17701569, 17701608, 17701613-17701623, 17712723-17712752 |
| 289 | ATPAF2 | 17 | 0.99885057471264 | 1 | 870 | 17924465 |
| 290 | MYO15A | 17 | 0.8449919758331 | 1642 | 10593 | 18022292-18022301, 18022464, 18022558-18022561, 18022641, 18022651-18022655, 18022729-18022745, 18022888, 18023026-18023031, 18023086-18023095, 18023289, 18023306-18023312, 18023323-18023325, 18023328, 18023343-18023354, 18023427-18023455, 18023516, 18023554-18023555, 18023605-18023653, 18023658, 18023722-18023778, 18023783, 18023819-18023851, 18023877-18023887, 18023894-18024239, 18024252, 18024257-18024258, 18024260-18024297, 18024305-18024430, 18024436-18024527, 18024541-18024574, 18024586-18024668, 18024675-18024883, 18024898, 18024912-18024979, 18025030-18025039, 18025058-18025082, 18025102-18025125, 18025147-18025190, 18025217-18025266, 18025313-18025325, 18025334-18025352, 18025358-18025369, 18025396-18025405, 18025420, 18025453-18025476, 18025606-18025609, 18025667, 18025672, 18025675, 18027814-18027815, 18027825-18027826, 18029752-18029757, 18045420-18045435, 18046898-18046899, 18046902-18046903, 18047029, 18047216, 18047225-18047232, 18047260-18047271, 18047879-18047885, 18057124-18057131, 18057135, 18057196-18057202, 18061098-18061108, 18070931-18070984 |
| 291 | UNC119 | 17 | 0.91147994467497 | 64 | 723 | 26879356-26879371, 26879382-26879385, 26879396-26879427, 26879432, 26879548-26879553, 26879571-26879575 |
| 292 | SLC6A4 | 17 | 0.98626518753302 | 26 | 1893 | 28543168-28543193 |
| 293 | NF1 | 17 | 0.99964788732394 | 3 | 8520 | 29422328-29422330 |
| 294 | HNF1B | 17 | 0.98566308243728 | 24 | 1674 | 36104563-36104573, 36104691-36104697, 36104829-36104834 |
| 295 | TCAP | 17 | 0.99801587301587 | 1 | 504 | 37821699 |
| 296 | KRT10 | 17 | 0.95270655270655 | 83 | 1755 | 38975101-38975149, 38975328, 38978462, 38978536, 38978763-38978793 |
| 297 | KRT14 | 17 | 0.88231148696265 | 167 | 1419 | 39738757-39738763, 39739487-39739515, 39739531-39739565, 39741303-39741309, 39742829-39742872, 39742959-39743003 |
| 298 | KRT16 | 17 | 0.90225035161744 | 139 | 1422 | 39766265-39766281, 39767174-39767180, 39767642-39767648, 39767744, 39768490-39768497, 39768706-39768753, 39768819, 39768842, 39768849, 39768852, 39768869-39768915 |
| 299 | KRT17 | 17 | 0.78367975365666 | 281 | 1299 | 39776926-39776933, 39776978-39776979, 39776987-39776993, 39777028, 39777080-39777086, 39777896-39777923, 39777974-39778004, 39778750, 39779215-39779221, 39779256-39779284, 39780384-39780389, 39780424-39780471, 39780513-39780535, 39780549-39780593, 39780650-39780656, 39780678-39780689, 39780693, 39780708-39780709, 39780716-39780731 |
| 300 | JUP | 17 | 0.99955317247542 | 1 | 2238 | 39927997 |
| 301 | FKBP10 | 17 | 0.99428244711264 | 10 | 1749 | 39969333-39969342 |
| 302 | STAT5B | 17 | 0.99492385786802 | 12 | 2364 | 40371394-40371397, 40371743-40371749, 40371796 |
| 303 | NAGLU | 17 | 0.9323476702509 | 151 | 2232 | 40688361, 40688370-40688432, 40688476-40688479, 40688485, 40688490-40688497, 40688508, 40688516-40688562, 40688579-40688597, 40695527-40695528, 40695608-40695611, 40695922 |
| 304 | BRCA1 | 17 | 0.99911582670203 | 5 | 5655 | 41256208-41256210, 41258543-41258544 |
| 305 | NAGS | 17 | 0.99439252336449 | 9 | 1605 | 42083075-42083076, 42083412-42083418 |
| 306 | SLC4A1 | 17 | 0.98976608187135 | 28 | 2736 | 42334894-42334904, 42335061, 42335108-42335119, 42335126, 42335953-42335955 |
| 307 | GRN | 17 | 0.88215488215488 | 210 | 1782 | 42427052-42427059, 42427816, 42427824-42427826, 42427920-42427926, 42428816-42428821, 42428937, 42429138, 42429141-42429153, 42429387-42429394, 42429400-42429430, 42429499-42429509, 42429587-42429607, 42429718, 42429722-42429741, 42429744-42429750, 42429754, 42429854, 42429901-42429904, 42429916-42429919, 42429926-42429932, 42429938-42429939, 42430029-42430072, 42430082, 42430112-42430117, 42430122 |
| 308 | ITGA2B | 17 | 0.86282051282051 | 428 | 3120 | 42451745, 42452101-42452103, 42452106-42452118, 42452401-42452403, 42452413-42452418, 42452431, 42452439-42452463, 42452469-42452479, 42452972-42452984, 42452992, 42453034, 42453083-42453084, 42453247, 42453453-42453454, 42453514-42453536, 42453677, 42453682, 42453686, 42453700-42453728, 42453756, 42454426-42454456, 42457467-42457471, 42457502-42457503, 42460863-42460867, 42460888-42460913, 42460923-42460982, 42461023, 42461037-42461049, 42461053, 42461069-42461072, 42461281, 42461297-42461303, 42461696-42461722, 42462362, 42462574-42462577, 42462694-42462703, 42462976-42462983, 42462999-42463004, 42463011-42463023, 42463033-42463036, 42463070-42463084, 42463192-42463196, 42463289, 42463386-42463387, 42463441-42463477 |
| 309 | PLEKHM1 | 17 | 0.96562598549354 | 109 | 3171 | 43515264-43515270, 43515273-43515275, 43515309-43515312, 43516861-43516908, 43522910, 43522913, 43531102, 43531144-43531146, 43531203, 43531380, 43531472-43531481, 43531538-43531544, 43531587, 43535551-43535557, 43535668, 43535684, 43535767, 43545580, 43545660-43545667, 43545752-43545753 |
| 310 | MAPT | 17 | 0.97340197340197 | 62 | 2331 | 44055774, 44055778, 44055787, 44055790-44055795, 44060660-44060664, 44060771, 44061034, 44061037, 44061077-44061088, 44061153-44061181, 44061233, 44061236, 44061250, 44061255 |
| 311 | ITGB3 | 17 | 0.99788762146177 | 5 | 2367 | 45331237-45331239, 45331246, 45331249 |
| 312 | SGCA | 17 | 0.99914089347079 | 1 | 1164 | 48246601 |
| 313 | COL1A1 | 17 | 0.99499431171786 | 22 | 4395 | 48262923-48262931, 48264044-48264056 |
| 314 | RAD51C | 17 | 0.99646330680813 | 4 | 1131 | 56787350-56787351, 56798107-56798108 |
| 315 | TRIM37 | 17 | 0.98998272884283 | 29 | 2895 | 57105877-57105891, 57105930-57105931, 57109323-57109329, 57109367-57109371 |
| 316 | CA4 | 17 | 0.9776357827476 | 21 | 939 | 58227405-58227408, 58227424-58227440 |
| 317 | TBX4 | 17 | 0.9981684981685 | 3 | 1638 | 59534016-59534018 |
| 318 | ACE | 17 | 0.90436113236419 | 375 | 3921 | 61554456-61554541, 61554552-61554628, 61554649-61554669, 61555355, 61555452, 61555457-61555459, 61557786, 61557848-61557870, 61557881, 61558532-61558544, 61559082-61559083, 61559089-61559090, 61559891-61559905, 61560527-61560530, 61561788-61561789, 61561796-61561807, 61561844-61561847, 61561877-61561902, 61562605, 61564052-61564059, 61566009-61566012, 61566023-61566033, 61566140-61566152, 61566337-61566341, 61566435-61566441, 61566487-61566493, 61568578, 61571001, 61574283-61574287, 61574535-61574538, 61574582-61574590, 61574601-61574605 |
| 319 | TACO1 | 17 | 0.9910514541387 | 8 | 894 | 61678675-61678681, 61678710 |
| 320 | GH1 | 17 | 0.99847094801223 | 1 | 654 | 61994722 |
| 321 | SCN4A | 17 | 0.99491925240428 | 28 | 5511 | 62025972, 62025980, 62025984-62025985, 62041050, 62043475-62043497 |
| 322 | COG1 | 17 | 0.99830105334692 | 5 | 2943 | 71189258-71189262 |
| 323 | DNAI2 | 17 | 0.98789878987899 | 22 | 1818 | 72277975, 72277981-72277982, 72277988, 72278046, 72297291, 72306214-72306218, 72310264-72310274 |
| 324 | USH1G | 17 | 0.88961038961039 | 153 | 1386 | 72915709-72915711, 72915748-72915797, 72916009, 72916158-72916164, 72916181-72916216, 72916428, 72916469-72916521, 72919071, 72919074 |
| 325 | TSEN54 | 17 | 0.8741302972802 | 199 | 1581 | 73512642-73512667, 73512697, 73512827, 73512840-73512886, 73512899-73512941, 73512952-73512977, 73512983-73512985, 73513127-73513128, 73513142-73513143, 73513291-73513316, 73517921-73517926, 73518284-73518286, 73518301, 73518353-73518356, 73518386-73518387, 73518390-73518395 |
| 326 | ITGB4 | 17 | 0.75242274638874 | 1354 | 5469 | 73726386-73726411, 73726567-73726570, 73726963-73726967, 73726982-73726983, 73727017, 73729632, 73732412, 73733522-73733525, 73736471-73736486, 73736489, 73737063-73737064, 73738448-73738457, 73738564-73738566, 73738733-73738765, 73738816, 73739807-73739830, 73744945-73745025, 73745052-73745059, 73745106-73745109, 73745114-73745121, 73746268, 73746317-73746319, 73746325-73746335, 73746825-73746830, 73746835-73746872, 73746884, 73746887-73746897, 73746925-73746941, 73747057, 73747091-73747134, 73747162-73747168, 73748352-73748370, 73748435, 73748531-73748537, 73748618-73748654, 73749852, 73749860-73749861, 73749882-73749885, 73749896-73749907, 73749917-73750055, 73750657-73750664, 73750732-73750741, 73750808-73750815, 73750855-73750873, 73751782-73751896, 73751914-73751931, 73752510-73752614, 73752630, 73752643-73752648, 73752787, 73752796-73752798, 73752808-73752816, 73752825-73752940, 73753024-73753180, 73753281-73753391, 73753497-73753518, 73753556-73753573, 73753596-73753613, 73753625-73753636 |
| 327 | GALK1 | 17 | 0.53944020356234 | 543 | 1179 | 73754137, 73754158-73754161, 73754175-73754176, 73754188-73754208, 73754301, 73754325-73754453, 73754530-73754680, 73758785-73758796, 73758814-73758835, 73758958, 73759120, 73759153-73759154, 73759165-73759202, 73759427, 73759479-73759505, 73759515-73759520, 73759987, 73760004-73760026, 73760160-73760167, 73761054-73761076, 73761106-73761123, 73761141-73761146, 73761163-73761203, 73761214-73761217 |
| 328 | UNC13D | 17 | 0.78154598227925 | 715 | 3273 | 73824058-73824061, 73824072-73824087, 73824132-73824167, 73825044-73825064, 73826123-73826124, 73826164-73826166, 73826169, 73826452-73826491, 73826498, 73826669-73826687, 73826705, 73826709, 73826736-73826739, 73827244-73827250, 73827325-73827328, 73827359-73827406, 73830176, 73830457, 73831491-73831495, 73831501-73831505, 73831549, 73831555-73831560, 73831566-73831567, 73831728-73831742, 73831809-73831834, 73832142, 73832186-73832190, 73832289-73832291, 73832296-73832309, 73832318, 73832322, 73832327-73832328, 73832420-73832433, 73832743, 73832764-73832777, 73835991, 73836117, 73836162-73836184, 73836327, 73836636-73836643, 73837076, 73838552-73838598, 73838632-73838636, 73838660-73838680, 73838983-73839004, 73839095-73839154, 73839250-73839291, 73839309-73839342, 73839565-73839600, 73840302-73840331, 73840353-73840390, 73840400-73840418 |
| 329 | ACOX1 | 17 | 0.96873424104892 | 62 | 1983 | 73945957, 73953548-73953557, 73953560, 73953567-73953575, 73953579, 73975048-73975087 |
| 330 | SEPT9 | 17 | 0.63884156729131 | 636 | 1761 | 75277619-75277636, 75398404-75398420, 75478247-75478310, 75478332-75478417, 75483506-75483526, 75483556-75483561, 75483569-75483570, 75483623-75483634, 75484328, 75484401-75484403, 75484812-75484888, 75484907-75484946, 75486828-75486840, 75486885-75486937, 75488703-75488736, 75488740-75488741, 75488785-75488798, 75489062-75489071, 75489102, 75489148-75489154, 75493397-75493405, 75493423-75493447, 75494605-75494710, 75494716-75494723, 75494734-75494740 |
| 331 | GAA | 17 | 0.73557187827912 | 756 | 2859 | 78078493-78078496, 78078498-78078499, 78078562-78078574, 78078591-78078598, 78078604-78078612, 78078624-78078634, 78078637, 78078649, 78078658, 78078682, 78078706-78078721, 78078728-78078740, 78078769-78078789, 78078900-78078918, 78079618, 78079621-78079642, 78079645, 78079686-78079692, 78081400-78081419, 78081432, 78081512-78081521, 78081609-78081658, 78082089-78082122, 78082129-78082165, 78082178-78082208, 78082298-78082310, 78082378-78082386, 78082496-78082498, 78082504, 78082564-78082567, 78082571-78082591, 78083757-78083798, 78083817-78083836, 78083847-78083848, 78083854, 78084543-78084552, 78084580-78084605, 78084769, 78085848-78085852, 78085855, 78086380-78086384, 78086435-78086465, 78086498-78086510, 78086764-78086776, 78086821-78086826, 78087024-78087042, 78087063-78087093, 78087117-78087138, 78087160-78087165, 78091437-78091452, 78091502-78091539, 78091992-78091996, 78092026-78092054, 78092142-78092156, 78092452-78092455, 78092470-78092471, 78092481-78092485, 78092588-78092590 |
| 332 | SGSH | 17 | 0.91186216037111 | 133 | 1509 | 78184359-78184375, 78184459-78184461, 78184542-78184546, 78184667-78184684, 78184689-78184691, 78185947-78185950, 78186043, 78187626-78187635, 78188437-78188441, 78188487-78188494, 78188855-78188858, 78188877-78188887, 78190834-78190851, 78190875, 78194070-78194094 |
| 333 | ACTG1 | 17 | 0.82358156028369 | 199 | 1128 | 79477811, 79477850-79477859, 79477967, 79477974, 79477986, 79478007, 79478019, 79478076, 79478079-79478080, 79478245-79478289, 79478297-79478345, 79478510, 79478515, 79478545, 79478550-79478552, 79478648, 79478973-79479012, 79479276-79479278, 79479345-79479380 |
| 334 | FSCN2 | 17 | 0.0033806626098716 | 1474 | 1479 | 79495558-79496383, 79502078-79502165, 79502171-79502234, 79503172-79503293, 79503648-79503815, 79503901-79504106 |
| 335 | LPIN2 | 18 | 0.99702712746191 | 8 | 2691 | 2951114-2951121 |
| 336 | AFG3L2 | 18 | 0.97702589807853 | 55 | 2394 | 12371614-12371616, 12377030-12377081 |
| 337 | NPC1 | 18 | 0.99609069585614 | 15 | 3837 | 21166266-21166280 |
| 338 | LAMA3 | 18 | 0.99430113977205 | 57 | 10002 | 21269648-21269666, 21269681-21269711, 21269746-21269752 |
| 339 | MYO5B | 18 | 0.99657472507662 | 19 | 5547 | 47364149-47364155, 47365647, 47721137-47721138, 47721155-47721163 |
| 340 | ATP8B1 | 18 | 0.99707135250266 | 11 | 3756 | 55328525, 55362461-55362462, 55364896-55364903 |
| 341 | CCBE1 | 18 | 0.95004095004095 | 61 | 1221 | 57134046-57134082, 57134096-57134107, 57134110, 57136748-57136755, 57136796-57136798 |
| 342 | TNFRSF11A | 18 | 0.95894111291194 | 76 | 1851 | 59992586-59992660, 60052164 |
| 343 | CTDP1 | 18 | 0.91337491337491 | 250 | 2886 | 77439948-77440093, 77440116, 77440134, 77440141-77440171, 77440177, 77440180-77440184, 77440198-77440235, 77440252-77440254, 77440259, 77455982-77455985, 77474534-77474539, 77474693, 77475188-77475190, 77475193, 77475196, 77496480-77496486 |
| 344 | ELANE | 19 | 0.063432835820896 | 753 | 804 | 852329-852352, 852365-852383, 852876-852972, 852990-853032, 853262-853403, 855564-855677, 855685-855791, 855958-856164 |
| 345 | KISS1R | 19 | 0.23057644110276 | 921 | 1197 | 917503-917557, 917566, 917579-917661, 917670, 917681-917746, 918544-918561, 918571-918668, 919490-919502, 919542-919567, 919588-919591, 919596-919607, 919611-919623, 919874-919881, 919885-919920, 919931, 919936-920020, 920025-920026, 920037-920046, 920051, 920054-920106, 920290-920438, 920446-920490, 920548-920560, 920577-920601, 920604, 920612-920632, 920635-920637, 920657-920727, 920738, 920741-920743, 920746-920748 |
| 346 | STK11 | 19 | 0.30645161290323 | 903 | 1302 | 1206980-1206982, 1207011-1207021, 1207032-1207047, 1207061-1207076, 1218416-1218444, 1218466-1218480, 1219323-1219357, 1219369, 1219381-1219412, 1220372-1220375, 1220403-1220407, 1220415-1220504, 1220580-1220702, 1221212-1221339, 1221973-1222005, 1222984-1223004, 1223020-1223171, 1226453-1226548, 1226554-1226646 |
| 347 | NDUFS7 | 19 | 0.57009345794393 | 276 | 642 | 1383926-1383941, 1387810-1387836, 1388524-1388550, 1388556, 1388577-1388578, 1388888-1388897, 1390897-1390913, 1390957-1390962, 1390973-1390978, 1391128-1391140, 1393241, 1393251-1393274, 1393288-1393321, 1395390-1395443, 1395450-1395487 |
| 348 | GAMT | 19 | 0.56296296296296 | 354 | 810 | 1398681-1398745, 1398780, 1398813-1398815, 1398828-1398834, 1398843-1398862, 1398906-1398941, 1398965-1398966, 1398994, 1399005-1399009, 1399014-1399025, 1399168-1399194, 1399817-1399820, 1399832-1399856, 1399877, 1399889-1399890, 1401309-1401411, 1401427-1401463, 1401470-1401472 |
| 349 | RAX2 | 19 | 0.1981981981982 | 445 | 555 | 3770623-3770722, 3770735-3770856, 3770867-3770901, 3770911-3770935, 3771529-3771531, 3771543-3771638, 3771656-3771685, 3771707-3771740 |
| 350 | MAP2K2 | 19 | 0.4139650872818 | 705 | 1203 | 4090596-4090616, 4090623-4090665, 4090683-4090706, 4094451-4094485, 4095386-4095447, 4097277-4097341, 4099199-4099320, 4099338-4099403, 4101019-4101042, 4101074, 4101079, 4101095-4101141, 4102397, 4102441-4102442, 4110507-4110515, 4110537, 4110543-4110546, 4110579-4110602, 4110620-4110648, 4117433-4117448, 4117495-4117500, 4117536-4117539, 4117549-4117551, 4117559-4117560, 4117612, 4123781-4123872 |
| 351 | NDUFA11 | 19 | 0.91784037558685 | 35 | 426 | 5894839, 5896560-5896583, 5903623-5903631, 5903651 |
| 352 | TUBB4 | 19 | 0.98576779026217 | 19 | 1335 | 6495234-6495246, 6495624-6495625, 6495633-6495634, 6495668, 6495672 |
| 353 | C3 | 19 | 0.88221153846154 | 588 | 4992 | 6690661-6690683, 6692991-6692997, 6693438-6693453, 6696459, 6697440-6697442, 6697477-6697494, 6697688-6697695, 6707087-6707143, 6707149-6707180, 6707213-6707236, 6707261-6707284, 6707829-6707848, 6707936-6707940, 6709698-6709735, 6709759-6709778, 6709811-6709853, 6710697-6710702, 6710726-6710734, 6710782, 6711105-6711109, 6713293-6713326, 6713434-6713453, 6713500-6713520, 6714004-6714022, 6714045-6714079, 6714177-6714223, 6714395-6714446 |
| 354 | INSR | 19 | 0.94577006507592 | 225 | 4149 | 7132169-7132176, 7132267-7132269, 7132303-7132315, 7141705-7141722, 7141822-7141827, 7142849-7142855, 7142928, 7142981-7143005, 7152758-7152790, 7152830-7152859, 7152930-7152938, 7174607-7174624, 7184465-7184466, 7184504, 7293825-7293838, 7293847-7293883 |
| 355 | MCOLN1 | 19 | 0.98164084911073 | 32 | 1743 | 7593998-7594000, 7598488, 7598492-7598508, 7598510-7598520 |
| 356 | PNPLA6 | 19 | 0.90060240963855 | 396 | 3984 | 7600838-7600851, 7600891, 7607447-7607448, 7607467-7607479, 7614809-7614810, 7614813-7614818, 7614831, 7614845-7614957, 7614970-7614972, 7614985-7614990, 7615184-7615188, 7615204-7615210, 7615215-7615217, 7615236, 7615244-7615294, 7615309, 7615403-7615426, 7615449-7615469, 7615500-7615505, 7615892-7615980, 7615989-7615993, 7616281-7616302 |
| 357 | STXBP2 | 19 | 0.98148148148148 | 33 | 1782 | 7702041-7702065, 7707191-7707195, 7707416, 7712640-7712641 |
| 358 | ADAMTS10 | 19 | 0.97161835748792 | 94 | 3312 | 8649830-8649836, 8649874-8649877, 8650141-8650153, 8650415-8650417, 8650457-8650473, 8654190-8654195, 8654239-8654247, 8654375-8654377, 8654390-8654391, 8669928-8669934, 8670003-8670014, 8670068-8670071, 8670580-8670586 |
| 359 | TYK2 | 19 | 0.74326599326599 | 915 | 3564 | 10461734, 10463127-10463141, 10463192-10463193, 10463198-10463210, 10463216, 10463616-10463617, 10463622-10463623, 10463672-10463688, 10463709-10463716, 10463726, 10463732-10463743, 10464204-10464258, 10464262, 10464268, 10464291-10464298, 10464736-10464768, 10464850-10464855, 10464868-10464886, 10465226, 10465230, 10465263-10465285, 10467346-10467393, 10468456-10468496, 10468508-10468551, 10468563, 10468568, 10468585-10468594, 10468685, 10468691, 10468695-10468706, 10468716-10468814, 10469851-10469878, 10469882-10469885, 10469889, 10469901-10469916, 10469952-10469973, 10469977-10469978, 10473080-10473082, 10473090, 10473310, 10475294-10475367, 10475424, 10475442, 10475532, 10475558, 10475635-10475643, 10475654-10475658, 10476202, 10476213-10476220, 10476270-10476295, 10476369-10476386, 10476389, 10476392-10476394, 10476425, 10476432-10476461, 10476489-10476499, 10476531-10476532, 10476549, 10478870-10478878, 10479002, 10488890-10488949, 10488961-10488963, 10488982-10488991, 10489003-10489082 |
| 360 | DNM2 | 19 | 0.95866819747417 | 108 | 2613 | 10829069, 10870428-10870433, 10893658-10893661, 10912975-10912990, 10922940-10922977, 10922985-10923013, 10923025, 10923036-10923044, 10939749, 10941715-10941717 |
| 361 | LDLR | 19 | 0.92140921409214 | 203 | 2583 | 11200273-11200278, 11215930-11215931, 11215964-11215965, 11216116, 11216185, 11216191-11216192, 11218185, 11221344, 11221351-11221352, 11221377, 11222213-11222215, 11222277-11222284, 11223969-11223982, 11224025-11224038, 11224046-11224052, 11224065-11224067, 11224226, 11224237-11224265, 11224270, 11224292, 11226847-11226857, 11231160-11231187, 11233984-11233985, 11238699, 11240203-11240228, 11240234-11240239, 11240318-11240346 |
| 362 | LDLR | 19 | 0.89473684210526 | 30 | 285 | 11240318-11240346, 11242057 |
| 363 | PRKCSH | 19 | 0.91115311909263 | 141 | 1587 | 11556237, 11557889-11557903, 11557970-11557975, 11558254, 11558270-11558271, 11558283-11558297, 11558323, 11558338-11558409, 11558508-11558518, 11558544-11558556, 11558575, 11558599, 11559088-11559089 |
| 364 | MAN2B1 | 19 | 0.94795783926219 | 158 | 3036 | 12759097, 12766633-12766651, 12767765, 12767846-12767850, 12768270-12768305, 12768341-12768348, 12768360-12768369, 12768921-12768944, 12769156-12769158, 12769242, 12769262-12769285, 12769299-12769324 |
| 365 | GCDH | 19 | 0.97570235383447 | 32 | 1317 | 13002149-13002150, 13006869-13006894, 13007025-13007028 |
| 366 | CACNA1A | 19 | 0.92939768647786 | 531 | 7521 | 13318186, 13318197, 13318202-13318203, 13318212, 13318233-13318304, 13318319, 13318339-13318425, 13318433-13318435, 13318448-13318467, 13318477-13318480, 13318492-13318576, 13318579-13318617, 13318625-13318726, 13318742-13318803, 13318810-13318814, 13318850-13318855, 13319605-13319627, 13319634, 13319694-13319696, 13325052, 13325410-13325417, 13335481-13335482, 13335501, 13409521 |
| 367 | NOTCH3 | 19 | 0.96425495262705 | 249 | 6966 | 15281322-15281324, 15281327-15281328, 15284981-15284987, 15285030-15285031, 15285052-15285054, 15285059-15285062, 15285096-15285098, 15285112, 15285203-15285205, 15288497, 15288621-15288623, 15290980-15290981, 15300210-15300211, 15302413-15302418, 15302423-15302424, 15302556-15302558, 15302670-15302678, 15302771-15302774, 15302809-15302830, 15302863-15302870, 15302873-15302888, 15302890-15302891, 15302944-15302948, 15302984-15302987, 15303046, 15303061-15303073, 15303188-15303208, 15311601-15311672, 15311678-15311702 |
| 368 | JAK3 | 19 | 0.91644444444444 | 282 | 3375 | 17940917-17940918, 17940931, 17940951-17940998, 17941374-17941409, 17942051-17942060, 17946858, 17949085-17949090, 17950365-17950370, 17950373-17950376, 17951085-17951092, 17952480, 17952492-17952509, 17953133-17953137, 17953150, 17953185-17953220, 17953263, 17953305, 17953312-17953315, 17953320-17953322, 17953346-17953349, 17953351, 17953357-17953370, 17953839-17953841, 17953847, 17953908-17953912, 17954222-17954241, 17954284-17954287, 17954643-17954645, 17954677-17954693, 17955079, 17955097-17955099, 17955191-17955204 |
| 369 | SLC5A5 | 19 | 0.95600414078675 | 85 | 1932 | 17983129-17983130, 17983285-17983293, 17983374-17983379, 17984947-17984968, 17984984-17985008, 17985303-17985314, 17986761-17986769 |
| 370 | IL12RB1 | 19 | 0.93966817496229 | 120 | 1989 | 18180391-18180393, 18180426, 18180432, 18183020-18183025, 18183091, 18186592-18186608, 18186621-18186627, 18186632, 18188326, 18188460, 18191758-18191759, 18191777-18191779, 18191799-18191804, 18193062-18193065, 18193068, 18193071, 18197570-18197633 |
| 371 | COMP | 19 | 0.56420404573439 | 991 | 2274 | 18893729-18893756, 18893864-18893890, 18893896-18893900, 18893950-18893969, 18894000, 18894003, 18895001, 18895724, 18896343, 18896349-18896356, 18896504, 18896514-18896585, 18896659, 18896804-18896807, 18896841-18896889, 18896904, 18896923-18896925, 18896933-18896945, 18897084-18897093, 18897409, 18898311, 18898320, 18898352-18898374, 18898422-18898426, 18899024-18899119, 18899127-18899128, 18899233-18899260, 18899286-18899323, 18899401-18899421, 18899429-18899505, 18899522-18899528, 18899536-18899559, 18899662, 18899683-18899722, 18899969-18900106, 18900751-18900781, 18900788-18900795, 18900801-18900838, 18900861-18900879, 18900886-18900916, 18901371-18901372, 18901394, 18901402-18901403, 18901408-18901417, 18901663-18901744, 18902022-18902026, 18902067-18902078 |
| 372 | CEBPA | 19 | 0.47725162488394 | 563 | 1077 | 33792338-33792340, 33792384-33792397, 33792408, 33792489-33792526, 33792568-33792578, 33792591-33792593, 33792600-33792616, 33792668-33792695, 33792701-33792779, 33792785-33792805, 33792818-33792820, 33792848-33792914, 33792919-33792932, 33792941-33792946, 33792950, 33792956-33792959, 33792977-33792993, 33793004-33793036, 33793052-33793078, 33793091-33793106, 33793132-33793210, 33793220-33793263, 33793272, 33793285-33793320 |
| 373 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 374 | HAMP | 19 | 0.97254901960784 | 7 | 255 | 35773518-35773524 |
| 375 | MAG | 19 | 0.90483785220627 | 179 | 1881 | 35786312-35786318, 35786520-35786521, 35786546-35786548, 35790458-35790502, 35790541-35790566, 35790590-35790606, 35790646-35790652, 35790696-35790717, 35791068-35791095, 35791134, 35791245-35791253, 35791306-35791307, 35793524-35793531, 35793582-35793583 |
| 376 | TYROBP | 19 | 0.78466076696165 | 73 | 339 | 36398125, 36398348-36398370, 36398378-36398386, 36398434, 36398448, 36399071-36399108 |
| 377 | SDHAF1 | 19 | 0.65229885057471 | 121 | 348 | 36486177-36486202, 36486212-36486250, 36486273-36486279, 36486310-36486341, 36486403-36486417, 36486444-36486445 |
| 378 | WDR62 | 19 | 0.99628171478565 | 17 | 4572 | 36595739-36595755 |
| 379 | RYR1 | 19 | 0.94780710458424 | 789 | 15117 | 38931402-38931403, 38976651-38976676, 38980065-38980074, 38981308, 38986858-38986859, 38986878, 38987111-38987119, 38987500-38987517, 38987524-38987549, 38998421-38998428, 38998431, 39037117-39037126, 39037160-39037166, 39055599-39055651, 39055674-39055688, 39055715-39055769, 39055787-39055813, 39055821-39056108, 39056117-39056137, 39056150-39056186, 39056195, 39056198-39056199, 39056211-39056257, 39056273, 39056283-39056287, 39056308-39056336, 39056347-39056394, 39075703-39075730, 39076583, 39076591-39076599, 39076602 |
| 380 | ACTN4 | 19 | 0.92726608187135 | 199 | 2736 | 39138417-39138431, 39138457, 39138462-39138489, 39138506-39138542, 39214964-39214965, 39215109-39215134, 39216364-39216375, 39219720-39219725, 39219929-39219956, 39219987-39219996, 39220034-39220067 |
| 381 | DLL3 | 19 | 0.91168551427033 | 164 | 1857 | 39989621, 39989625, 39989869-39989871, 39989884-39989886, 39990030, 39993459-39993497, 39993588-39993629, 39993655-39993688, 39994793-39994803, 39994874-39994880, 39997789, 39997840-39997854, 39997897, 39998087-39998091 |
| 382 | PRX | 19 | 0.96215230278158 | 166 | 4386 | 40901300-40901302, 40901614, 40902390-40902393, 40902759, 40902776, 40903411-40903422, 40903468-40903471, 40903613, 40903675-40903677, 40909613-40909698, 40909712-40909714, 40909723-40909769 |
| 383 | TGFB1 | 19 | 0.96589940323956 | 40 | 1173 | 41848094-41848101, 41854243-41854257, 41854318-41854319, 41858918-41858932 |
| 384 | RPS19 | 19 | 0.98401826484018 | 7 | 438 | 42364858, 42364862, 42364870-42364872, 42364894-42364895 |
| 385 | ATP1A3 | 19 | 0.86188145731376 | 508 | 3678 | 42470746-42470800, 42470809-42470817, 42470842-42470907, 42470914-42470956, 42470963, 42470967-42470978, 42471007-42471075, 42471087-42471088, 42471095-42471107, 42471131-42471172, 42471198-42471203, 42471273-42471280, 42471306-42471337, 42471344-42471383, 42471415-42471449, 42471877-42471886, 42474600-42474615, 42480568-42480584, 42480609-42480615, 42480692-42480716 |
| 386 | BCAM | 19 | 0.93746687864335 | 118 | 1887 | 45312382-45312392, 45312402-45312463, 45323977-45323988, 45324025-45324044, 45324063-45324075 |
| 387 | APOE | 19 | 0.99266247379455 | 7 | 954 | 45412207-45412213 |
| 388 | BLOC1S3 | 19 | 0.91297208538588 | 53 | 609 | 45682846, 45682919-45682923, 45682988-45683024, 45683066-45683068, 45683103-45683107, 45683110-45683111 |
| 389 | ERCC2 | 19 | 0.91371003066141 | 197 | 2283 | 45867001-45867004, 45867075-45867097, 45867117-45867121, 45867133-45867137, 45867151-45867169, 45867244-45867265, 45867278-45867279, 45867324-45867341, 45867352, 45867493-45867526, 45867682-45867698, 45868166, 45873445-45873490 |
| 390 | SIX5 | 19 | 0.75495495495496 | 544 | 2220 | 46268765, 46268768-46268780, 46268863-46268875, 46268889-46268895, 46268902, 46268905, 46268950-46268984, 46269100, 46269107, 46269112-46269123, 46269179-46269226, 46269244, 46269708, 46269717-46269722, 46269749, 46269758, 46269763, 46270065-46270083, 46270110-46270111, 46270114, 46270131-46270138, 46270141, 46270145-46270203, 46270246-46270250, 46270334-46270336, 46270368, 46270371-46270388, 46271308-46271312, 46271315-46271317, 46271326, 46271340, 46271381-46271383, 46271440, 46271453-46271454, 46271465-46271467, 46271564-46271603, 46271636, 46271644, 46271681-46271727, 46271733-46271762, 46271786-46271801, 46271804, 46271831-46271839, 46271842, 46271870, 46271875-46271876, 46271881-46271957, 46271979-46271983, 46272031-46272052, 46272065-46272071, 46272097, 46272100-46272102 |
| 391 | DMPK | 19 | 0.87248677248677 | 241 | 1890 | 46273749-46273755, 46273826-46273852, 46274268, 46274270-46274288, 46274297-46274318, 46280652, 46280800, 46280835-46280848, 46281432-46281450, 46281849-46281863, 46282533-46282543, 46282751-46282759, 46283054-46283060, 46285523-46285610 |
| 392 | FKRP | 19 | 0.37096774193548 | 936 | 1488 | 47258708-47258720, 47258725-47258726, 47258730, 47258747-47258757, 47258770-47258786, 47258804-47258810, 47258817, 47258819-47258829, 47258838-47258839, 47258842-47258844, 47258854-47258870, 47258913-47258955, 47258994, 47259005-47259022, 47259027-47259104, 47259128-47259196, 47259208-47259262, 47259265-47259266, 47259283-47259294, 47259322-47259471, 47259480-47259560, 47259576-47259597, 47259604-47259748, 47259757-47259763, 47259792-47259809, 47259837-47259858, 47259867-47259887, 47259927-47259930, 47259940-47259943, 47260031-47260033, 47260036-47260040, 47260043, 47260046, 47260050, 47260087-47260104, 47260112-47260181 |
| 393 | DBP | 19 | 0.48261758691207 | 506 | 978 | 49134097, 49134159-49134206, 49134248-49134249, 49136805-49136833, 49138837-49139054, 49139064-49139079, 49139094-49139243, 49140149, 49140154-49140155, 49140192-49140230 |
| 394 | BCAT2 | 19 | 0.96522476675148 | 41 | 1179 | 49303039, 49303062-49303095, 49303248, 49303333-49303336, 49303457 |
| 395 | FTL | 19 | 0.99810606060606 | 1 | 528 | 49469573 |
| 396 | GYS1 | 19 | 0.94399277326107 | 124 | 2214 | 49494570, 49494573-49494581, 49494594-49494596, 49494616-49494638, 49494698, 49494717, 49494726-49494740, 49496256-49496259, 49496280-49496335, 49496359-49496369 |
| 397 | MED25 | 19 | 0.89661319073084 | 232 | 2244 | 50321632, 50321635, 50321638-50321642, 50321647, 50321692-50321719, 50321849-50321852, 50332293-50332298, 50333055, 50333768-50333792, 50334047-50334051, 50334085, 50334115-50334134, 50335389-50335414, 50338418-50338421, 50338424, 50338791-50338798, 50338829-50338862, 50339026-50339027, 50339110-50339118, 50339194-50339202, 50339483-50339499, 50339524-50339535, 50339546, 50339588-50339594, 50340190, 50340197-50340199 |
| 398 | MYH14 | 19 | 0.9774177712322 | 138 | 6111 | 50752998-50752999, 50760682-50760687, 50762411, 50764801-50764852, 50764859-50764892, 50770185-50770227 |
| 399 | KCNC3 | 19 | 0.85224274406332 | 336 | 2274 | 50823520-50823521, 50823525, 50823531-50823546, 50823573-50823582, 50826427-50826432, 50826465-50826473, 50826477-50826479, 50831723-50831732, 50831739-50831752, 50831763-50831764, 50831882, 50831926-50831965, 50831977-50832026, 50832130-50832135, 50832148-50832149, 50832152, 50832169, 50832178-50832339 |
| 400 | NLRP12 | 19 | 0.95731324544884 | 136 | 3186 | 54297303-54297339, 54299242-54299247, 54301614, 54304512-54304530, 54304550-54304555, 54304597-54304600, 54307355-54307376, 54312850-54312851, 54312861-54312872, 54312964, 54313587-54313588, 54313638-54313641, 54313661-54313667, 54314098, 54314419-54314430 |
| 401 | PRKCG | 19 | 0.98758357211079 | 26 | 2094 | 54392988, 54392992, 54401764, 54401845, 54403989, 54409614, 54409963, 54409974, 54409979-54409980, 54410088-54410103 |
| 402 | PRPF31 | 19 | 0.46 | 810 | 1500 | 54621659-54621680, 54621694-54621701, 54621735-54621739, 54621784-54621792, 54621828-54621829, 54625251-54625255, 54625318-54625322, 54625908, 54625922-54625938, 54626849-54626852, 54626879-54626889, 54626915-54626918, 54627128-54627175, 54627201-54627205, 54627901-54627949, 54627990-54627996, 54628021-54628034, 54629936-54629992, 54631448-54631528, 54631538-54631575, 54631680-54631752, 54632432-54632511, 54632518-54632560, 54632647-54632742, 54634738-54634863 |
| 403 | TSEN34 | 19 | 0.95712754555198 | 40 | 933 | 54695296-54695306, 54695362-54695368, 54695399-54695418, 54695434, 54695437 |
| 404 | NLRP7 | 19 | 0.99967886962107 | 1 | 3114 | 55451050 |
| 405 | TNNT1 | 19 | 0.80861850443599 | 151 | 789 | 55644310-55644328, 55645255-55645256, 55645264-55645267, 55645270-55645295, 55645477-55645479, 55645507, 55645511-55645513, 55648472-55648483, 55649329-55649358, 55649421-55649438, 55652298-55652321, 55652599-55652601, 55652666-55652670, 55658072 |
| 406 | TNNI3 | 19 | 0.88341543513957 | 71 | 609 | 55665489-55665504, 55666143-55666174, 55667673-55667695 |
| 407 | TPO | 2 | 0.92790863668808 | 202 | 2802 | 1481089-1481097, 1481218-1481220, 1497574, 1520655-1520721, 1520734-1520735, 1520747-1520754, 1544366-1544371, 1544393-1544412, 1544425-1544495, 1546193-1546206, 1546239 |
| 408 | RPS7 | 2 | 0.97264957264957 | 16 | 585 | 3623200-3623203, 3623240-3623251 |
| 409 | KLF11 | 2 | 0.97465886939571 | 39 | 1539 | 10183847-10183885 |
| 410 | LPIN1 | 2 | 0.99887766554433 | 3 | 2673 | 11911777-11911778, 11911793 |
| 411 | MYCN | 2 | 0.98566308243728 | 20 | 1395 | 16082307-16082313, 16082397-16082400, 16082542-16082550 |
| 412 | APOB | 2 | 0.99802804557406 | 27 | 13692 | 21224800-21224803, 21266748-21266768, 21266794-21266795 |
| 413 | HADHB | 2 | 0.99087719298246 | 13 | 1425 | 26502875, 26502885-26502889, 26508379-26508385 |
| 414 | OTOF | 2 | 0.79546212879546 | 1226 | 5994 | 26684785-26684789, 26687884-26687890, 26688693, 26690048, 26690255-26690257, 26690261, 26690304-26690308, 26693461-26693496, 26693554-26693556, 26695410-26695452, 26696026-26696048, 26696156-26696162, 26696274-26696279, 26696320-26696340, 26696368-26696383, 26696871-26696915, 26696926-26696933, 26696967, 26696978, 26697381-26697455, 26697461-26697490, 26697522-26697539, 26698230-26698232, 26698332-26698352, 26698782-26698787, 26698794-26698824, 26698843-26698850, 26698861-26698906, 26698996-26699085, 26699101-26699146, 26699156-26699185, 26699759-26699911, 26700053-26700078, 26700110-26700117, 26700129-26700156, 26700311-26700348, 26700517-26700562, 26700596-26700603, 26702187-26702190, 26702224-26702229, 26702341-26702381, 26702421-26702461, 26702511-26702520, 26703071-26703075, 26703107-26703136, 26703173-26703179, 26703654-26703659, 26703684-26703716, 26703740-26703764, 26703792-26703834, 26703863-26703877, 26705338-26705344, 26705357-26705359, 26705444-26705446, 26706397, 26706485, 26712129 |
| 415 | EIF2B4 | 2 | 0.99632352941176 | 6 | 1632 | 27592343, 27592857-27592861 |
| 416 | ALK | 2 | 0.99773802179724 | 11 | 4863 | 29443623-29443630, 29451772, 30143499-30143500 |
| 417 | SPAST | 2 | 0.93084819016748 | 128 | 1851 | 32288989-32289006, 32289012, 32289016-32289020, 32289031-32289037, 32289077-32289079, 32289123-32289139, 32289184-32289246, 32289292, 32289301-32289309, 32289312-32289315 |
| 418 | CYP1B1 | 2 | 0.94178921568627 | 95 | 1632 | 38301971, 38301988-38301993, 38302005-38302022, 38302042-38302047, 38302190-38302193, 38302203-38302228, 38302263-38302266, 38302302-38302316, 38302410-38302416, 38302422-38302429 |
| 419 | SOS1 | 2 | 0.99900049975012 | 4 | 4002 | 39224399, 39281926, 39285829-39285830 |
| 420 | ABCG8 | 2 | 0.97774480712166 | 45 | 2022 | 44099225-44099231, 44099395, 44102326-44102349, 44102359-44102371 |
| 421 | LRPPRC | 2 | 0.98399044205496 | 67 | 4185 | 44222948-44222960, 44222968-44222998, 44223064-44223086 |
| 422 | SIX3 | 2 | 0.99399399399399 | 6 | 999 | 45169430-45169432, 45169557-45169559 |
| 423 | EPCAM | 2 | 0.96825396825397 | 30 | 945 | 47596645, 47596662-47596690 |
| 424 | MSH2 | 2 | 0.99607843137255 | 11 | 2805 | 47630456-47630465, 47630535 |
| 425 | MSH6 | 2 | 0.97281410727406 | 111 | 4083 | 48010373-48010379, 48010443, 48010455-48010467, 48010473-48010481, 48010487-48010546, 48010564-48010572, 48010579-48010590 |
| 426 | LHCGR | 2 | 0.99904761904762 | 2 | 2100 | 48982764, 48982767 |
| 427 | EFEMP1 | 2 | 0.99932523616734 | 1 | 1482 | 56144945 |
| 428 | ATP6V1B1 | 2 | 0.99935149156939 | 1 | 1542 | 71191617 |
| 429 | DYSF | 2 | 0.9872641509434 | 81 | 6360 | 71801339-71801341, 71801345-71801348, 71801354-71801360, 71801450-71801453, 71825783-71825784, 71825825, 71825829, 71825843-71825847, 71829909-71829920, 71838597, 71847677-71847697, 71847720-71847739 |
| 430 | SPR | 2 | 0.98473282442748 | 12 | 786 | 73114608, 73114615-73114616, 73114715-73114716, 73114757-73114763 |
| 431 | ALMS1 | 2 | 0.99840051183621 | 20 | 12504 | 73613032-73613037, 73827996-73828002, 73828339-73828345 |
| 432 | MOGS | 2 | 0.91129673826571 | 223 | 2514 | 74688500-74688502, 74688520, 74688675-74688681, 74688857-74688863, 74688912-74688917, 74689002-74689049, 74689066-74689094, 74689262-74689277, 74689361-74689366, 74689590, 74689907-74689912, 74691638-74691681, 74692257-74692262, 74692267-74692287, 74692320-74692324, 74692352-74692368 |
| 433 | HTRA2 | 2 | 0.99346405228758 | 9 | 1377 | 74757246-74757254 |
| 434 | REEP1 | 2 | 0.9983498349835 | 1 | 606 | 86564622 |
| 435 | EIF2AK3 | 2 | 0.98299015219338 | 57 | 3351 | 88926558, 88926561, 88926624, 88926630, 88926675, 88926723-88926739, 88926746-88926753, 88926765-88926791 |
| 436 | TMEM127 | 2 | 0.92608089260809 | 53 | 717 | 96930878-96930887, 96930958-96930961, 96931050-96931058, 96931087-96931116 |
| 437 | ZAP70 | 2 | 0.90806451612903 | 171 | 1860 | 98340593-98340625, 98340719-98340767, 98340778, 98340790-98340800, 98340822-98340825, 98340831-98340833, 98340840-98340847, 98340857-98340869, 98349359, 98349408, 98349760-98349779, 98350012, 98350043, 98351001, 98351145-98351146, 98351156-98351175, 98351796, 98354556 |
| 438 | RANBP2 | 2 | 0.94594315245478 | 523 | 9675 | 109345588-109345589, 109352142, 109352185-109352200, 109352560-109352569, 109357110-109357130, 109363251-109363254, 109365376, 109365536, 109367831-109367879, 109367984-109367990, 109368074-109368111, 109368406-109368450, 109369546-109369548, 109369896-109369902, 109371656-109371662, 109374947-109374971, 109378557-109378564, 109378651, 109382635-109382677, 109382787-109382793, 109382916-109382946, 109383050-109383059, 109383084-109383113, 109383142-109383148, 109383268-109383314, 109383334-109383360, 109383672-109383678, 109383825, 109383872-109383916, 109384167, 109384202, 109384454-109384472, 109384664 |
| 439 | MERTK | 2 | 0.99633333333333 | 11 | 3000 | 112656315-112656325 |
| 440 | GLI2 | 2 | 0.95085066162571 | 234 | 4761 | 121555017-121555021, 121708956-121708960, 121709008-121709021, 121712943-121712966, 121727992-121727995, 121728146-121728151, 121728154, 121729542, 121729605-121729611, 121745829-121745835, 121746143-121746179, 121746205-121746249, 121746303-121746318, 121746341-121746342, 121746372-121746373, 121746385-121746388, 121746506-121746533, 121746589-121746592, 121746646, 121746686-121746698, 121746701, 121747020-121747023, 121747118, 121747489, 121747697 |
| 441 | BIN1 | 2 | 0.89337822671156 | 190 | 1782 | 127806124-127806130, 127808042-127808059, 127808459-127808487, 127808774-127808796, 127811481-127811511, 127811519, 127811574, 127815049-127815123, 127834266, 127834269-127834272 |
| 442 | PROC | 2 | 0.95743145743146 | 59 | 1386 | 128180493-128180496, 128180634-128180636, 128180647-128180650, 128180663-128180689, 128180699-128180717, 128180747, 128180872 |
| 443 | CFC1 | 2 | 0.87053571428571 | 87 | 672 | 131279407-131279413, 131279621-131279627, 131280364-131280389, 131280789-131280834, 131285322 |
| 444 | NEB | 2 | 0.99944928406929 | 11 | 19974 | 152432756, 152432763-152432765, 152432791-152432797 |
| 445 | SCN1A | 2 | 0.99783224945806 | 13 | 5997 | 166929933-166929945 |
| 446 | ABCB11 | 2 | 0.99924357034796 | 3 | 3966 | 169781202-169781204 |
| 447 | ITGA6 | 2 | 0.99725274725275 | 9 | 3276 | 173292517-173292525 |
| 448 | HOXD13 | 2 | 0.99031007751938 | 10 | 1032 | 176957670-176957679 |
| 449 | PRKRA | 2 | 0.97664543524416 | 22 | 942 | 179301037, 179308031-179308038, 179312298-179312307, 179314974, 179314977, 179315745 |
| 450 | DFNB59 | 2 | 0.97261567516525 | 29 | 1059 | 179318305-179318333 |
| 451 | CERKL | 2 | 0.99437148217636 | 9 | 1599 | 182468649-182468657 |
| 452 | NDUFS1 | 2 | 0.99908424908425 | 2 | 2184 | 207017190, 207017195 |
| 453 | WNT10A | 2 | 0.99441786283892 | 7 | 1254 | 219745753-219745754, 219757869-219757873 |
| 454 | DES | 2 | 0.98513800424628 | 21 | 1413 | 220283274-220283282, 220283592-220283595, 220283704-220283710, 220283714 |
| 455 | OBSL1 | 2 | 0.95009664382358 | 284 | 5691 | 220416292, 220416381-220416384, 220416840-220416841, 220416894, 220416901, 220417370, 220417590-220417622, 220417699-220417711, 220435313-220435318, 220435391-220435398, 220435416, 220435578-220435614, 220435635-220435643, 220435652-220435691, 220435693, 220435699-220435783, 220435896-220435903, 220435922-220435954 |
| 456 | CHRND | 2 | 0.98970398970399 | 16 | 1554 | 233390934-233390948, 233390955 |
| 457 | AGXT | 2 | 0.73282442748092 | 315 | 1179 | 241808283-241808319, 241808332-241808380, 241808403-241808419, 241808587-241808590, 241808595, 241808614-241808644, 241808651-241808680, 241808734-241808735, 241808761-241808779, 241810061-241810068, 241810078-241810079, 241810084-241810086, 241810115-241810119, 241810784-241810821, 241810830-241810866, 241813410-241813412, 241813459-241813460, 241816992-241817003, 241817501-241817508, 241818147-241818153 |
| 458 | D2HGDH | 2 | 0.84610472541507 | 241 | 1566 | 242689608-242689626, 242689693, 242695409-242695429, 242707125-242707131, 242707150-242707277, 242707299-242707362, 242707382 |
| 459 | C20orf54 | 20 | 0.99858156028369 | 2 | 1410 | 746355, 746358 |
| 460 | AVP | 20 | 0.67070707070707 | 163 | 495 | 3063288-3063291, 3063305, 3063337-3063340, 3063344-3063373, 3063389-3063442, 3063623-3063665, 3063676, 3063679, 3063689-3063694, 3063720-3063732, 3063770-3063775 |
| 461 | PANK2 | 20 | 0.95096322241681 | 84 | 1713 | 3869787, 3869799, 3869866-3869868, 3870009-3870030, 3870100, 3870146-3870159, 3870186-3870190, 3870226-3870229, 3870268-3870300 |
| 462 | JAG1 | 20 | 0.97593656002188 | 88 | 3657 | 10620147-10620151, 10621460, 10621577-10621581, 10653351, 10653387-10653388, 10653397, 10653497-10653517, 10653560-10653577, 10653611-10653617, 10653625-10653628, 10654137-10654138, 10654158-10654178 |
| 463 | C20orf7 | 20 | 0.9990366088632 | 1 | 1038 | 13782132 |
| 464 | SNTA1 | 20 | 0.86166007905138 | 210 | 1518 | 32000209-32000232, 32000424-32000427, 32000571-32000583, 32031154-32031162, 32031167-32031193, 32031204-32031238, 32031240, 32031251, 32031260-32031270, 32031305, 32031309, 32031316-32031321, 32031324-32031328, 32031342-32031343, 32031346-32031405, 32031409-32031410, 32031413-32031417, 32031424-32031426 |
| 465 | GSS | 20 | 0.99368421052632 | 9 | 1425 | 33523395-33523403 |
| 466 | GDF5 | 20 | 0.98339973439575 | 25 | 1506 | 34021780-34021784, 34022290, 34025102-34025106, 34025112, 34025153, 34025156, 34025159-34025160, 34025188-34025189, 34025195-34025197, 34025275-34025278 |
| 467 | HNF4A | 20 | 0.99157894736842 | 12 | 1425 | 43052773-43052775, 43052786, 43052822-43052828, 43052894 |
| 468 | ADA | 20 | 0.96794871794872 | 35 | 1092 | 43252853, 43252856-43252857, 43255200-43255209, 43257756-43257771, 43280216-43280217, 43280226-43280229 |
| 469 | CTSA | 20 | 0.96325985303941 | 55 | 1497 | 44520003-44520017, 44520234-44520267, 44520334, 44523770-44523772, 44526375, 44526738 |
| 470 | VAPB | 20 | 0.97814207650273 | 16 | 732 | 57014066-57014081 |
| 471 | GNAS | 20 | 0.98373983739837 | 12 | 738 | 57415194-57415205 |
| 472 | GNAS | 20 | 0.96403339755941 | 112 | 3114 | 57428720, 57429101, 57429435-57429446, 57429479-57429482, 57429491-57429503, 57429641-57429651, 57429675-57429702, 57429716-57429734, 57429851-57429861, 57430083-57430094 |
| 473 | COL9A3 | 20 | 0.45742092457421 | 1115 | 2055 | 61448417-61448494, 61448919-61448987, 61449870-61449905, 61450574-61450604, 61450614, 61450625-61450645, 61451281-61451334, 61452533-61452568, 61452860-61452863, 61453109-61453140, 61453148-61453162, 61453463-61453516, 61453943-61453947, 61453962-61453984, 61455797-61455853, 61456320-61456373, 61457169-61457209, 61457556-61457573, 61457602-61457609, 61458119-61458120, 61458131-61458172, 61458593-61458638, 61459275-61459328, 61460131-61460163, 61460275-61460298, 61460315-61460317, 61460980-61461005, 61461118-61461121, 61461127-61461161, 61461712-61461736, 61461755-61461765, 61461869-61461940, 61463519-61463541, 61464409-61464416, 61467273-61467305, 61467539, 61467572-61467584, 61467637-61467652, 61467673, 61468505-61468506, 61468511, 61468516, 61468537, 61468549 |
| 474 | CHRNA4 | 20 | 0.17409766454352 | 1556 | 1884 | 61978090-61978163, 61978193-61978215, 61981005-61981057, 61981067-61981310, 61981322-61981558, 61981567-61981809, 61981848-61981868, 61981874-61981894, 61981917-61982001, 61982031-61982033, 61982037, 61982040, 61982047-61982051, 61982067-61982085, 61982095, 61982098, 61982124, 61982151-61982195, 61982238-61982263, 61982279-61982318, 61982340-61982351, 61982363-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517 |
| 475 | KCNQ2 | 20 | 0.14700267277587 | 2234 | 2619 | 62037997-62038168, 62038189-62038280, 62038301-62038381, 62038390-62038456, 62038462-62038728, 62039766-62039889, 62044803-62044934, 62045441-62045453, 62045456-62045459, 62045511-62045546, 62046263-62046307, 62046316-62046348, 62046353-62046354, 62046367, 62046394-62046400, 62046435-62046464, 62050978, 62050987, 62051007, 62055535-62055536, 62055542-62055559, 62059735-62059788, 62062693-62062697, 62065162-62065226, 62065232-62065256, 62069978-62069993, 62070010, 62070025-62070054, 62070064-62070073, 62070951-62071042, 62071054-62071061, 62073759-62073884, 62076012-62076187, 62076591, 62076609-62076717, 62078100-62078190, 62103521-62103816 |
| 476 | SOX18 | 20 | 0.20952380952381 | 913 | 1155 | 62679519-62679521, 62679526-62679588, 62679619-62679626, 62679666-62679669, 62679730-62679754, 62679821-62679828, 62679833-62679834, 62679838-62679889, 62679903-62680003, 62680010-62680119, 62680129-62680147, 62680156-62680315, 62680512-62680869 |
| 477 | APP | 21 | 0.99740596627756 | 6 | 2313 | 27542882-27542887 |
| 478 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
| 479 | RCAN1 | 21 | 0.91699604743083 | 63 | 759 | 35987186-35987219, 35987225-35987242, 35987256-35987258, 35987267, 35987283-35987286, 35987308-35987310 |
| 480 | CLDN14 | 21 | 0.83611111111111 | 118 | 720 | 37833292-37833358, 37833533-37833554, 37833566-37833588, 37833895, 37833969, 37833981-37833982, 37833992-37833993 |
| 481 | HLCS | 21 | 0.99679046309033 | 7 | 2181 | 38309234-38309240 |
| 482 | TMPRSS3 | 21 | 0.98974358974359 | 14 | 1365 | 43805525-43805538 |
| 483 | CSTB | 21 | 0.99326599326599 | 2 | 297 | 45196123-45196124 |
| 484 | AIRE | 21 | 0.20757020757021 | 1298 | 1638 | 45705890-45706006, 45706440-45706540, 45706551, 45706579-45706614, 45706861-45706900, 45706904-45706913, 45706951-45707016, 45707401-45707428, 45707449-45707474, 45708244-45708260, 45708264-45708281, 45708303, 45708310, 45708315-45708317, 45708325, 45709540-45709542, 45709568, 45709576-45709599, 45709625-45709680, 45709871, 45709881-45709951, 45710998-45711085, 45712191-45712244, 45712255-45712284, 45712876-45713058, 45713672-45713720, 45713732-45713736, 45713746-45713765, 45713772-45713774, 45713778-45713780, 45713786-45713788, 45714284-45714386, 45716266-45716328, 45717539-45717610 |
| 485 | ITGB2 | 21 | 0.62251082251082 | 872 | 2310 | 46306697, 46306703, 46306729-46306817, 46308620-46308810, 46309191-46309313, 46309324-46309390, 46309401, 46309893-46309927, 46309947-46309982, 46309994-46310039, 46310052-46310066, 46310097-46310135, 46311738-46311833, 46311898-46311911, 46313319-46313336, 46313356-46313368, 46313388-46313403, 46313409, 46313428-46313459, 46320246-46320270, 46320334, 46320379-46320380, 46320383-46320388, 46326930-46326933 |
| 486 | COL18A1 | 21 | 0.51035137701804 | 2578 | 5265 | 46875475-46875478, 46875734-46875740, 46875906-46875940, 46876195-46876201, 46876215-46876220, 46876224-46876244, 46876328-46876333, 46876389, 46876414-46876423, 46876464-46876486, 46876497-46876533, 46876555-46876587, 46876615-46876621, 46876632-46876667, 46876685-46876689, 46876778-46876795, 46888156-46888157, 46888161-46888162, 46888171-46888172, 46888175, 46888183, 46888212, 46888237-46888240, 46888326-46888350, 46888467-46888478, 46888520-46888568, 46888628-46888660, 46895397-46895400, 46896284-46896313, 46896334, 46896363-46896365, 46896368-46896382, 46896389-46896391, 46897347-46897360, 46897721-46897728, 46897878, 46899819-46899866, 46899984-46899990, 46899999-46900002, 46900008, 46900032-46900042, 46900407-46900423, 46900669-46900699, 46900726, 46900732, 46900768-46900772, 46906775-46906777, 46906798-46906878, 46906888, 46906898, 46907366-46907373, 46907403-46907414, 46908342-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912616, 46912625-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915315, 46915334-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925281-46925345, 46925752-46925847, 46925854-46925880, 46927475-46927507, 46929274-46929314, 46929340-46929350, 46929353-46929363, 46929373-46929411, 46929419-46929439, 46929452-46929454, 46929466-46929511, 46929983-46930064, 46930070-46930170, 46931025-46931092, 46931109-46931113, 46931122-46931123, 46932102-46932105, 46932117-46932120, 46932130, 46932145-46932170, 46932173-46932184, 46932193, 46932201, 46932206, 46932216-46932312 |
| 487 | COL6A1 | 21 | 0.41172659540006 | 1816 | 3087 | 47401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409037, 47409044-47409051, 47409522-47409545, 47409555-47409565, 47409666-47409692, 47410172-47410198, 47410292-47410336, 47410687-47410704, 47410713-47410740, 47410893-47410919, 47410931, 47410933-47410934, 47410944-47410955, 47411924-47411948, 47411974-47411986, 47412078-47412079, 47412087-47412116, 47412277-47412283, 47412672-47412675, 47412685-47412689, 47412723-47412724, 47414081-47414088, 47414092-47414116, 47414122-47414143, 47417335-47417397, 47417614-47417663, 47418035-47418085, 47418312-47418347, 47418811-47418870, 47419077-47419099, 47419115-47419117, 47419121-47419132, 47419571-47419606, 47420245-47420256, 47420279-47420281, 47420677-47420681, 47421199-47421210, 47421217, 47421275-47421281, 47421875, 47422303-47422315, 47422574-47422613, 47423321-47423324, 47423389, 47423446-47423467, 47423479-47423507, 47423514-47423518, 47423557-47423575, 47423616-47423624, 47423649-47423662, 47423696-47423722, 47423725-47423727, 47423821, 47423825, 47423892-47423927 |
| 488 | COL6A2 | 21 | 0.23333333333333 | 2346 | 3060 | 47531391-47531416, 47531431-47531475, 47531481-47531505, 47531893-47531923, 47531931-47531948, 47531958, 47531965, 47531971-47532020, 47532030-47532036, 47532065-47532082, 47532094-47532131, 47532174-47532202, 47532249-47532250, 47532268, 47532271, 47532276-47532312, 47532315-47532317, 47532322-47532324, 47532342-47532359, 47532379-47532401, 47532414-47532442, 47532461, 47532468, 47532476-47532477, 47532487-47532491, 47533922-47533976, 47535807-47535814, 47535839, 47535923-47535967, 47536291-47536292, 47536298-47536304, 47536313-47536317, 47536565-47536591, 47536684-47536728, 47537314-47537367, 47537788-47537850, 47538528-47538542, 47538562-47538590, 47538944-47538945, 47538954-47539033, 47539702-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542426, 47542437-47542445, 47542789-47542795, 47542826-47542851, 47544576-47544612, 47544626-47544627, 47544799-47544834, 47545180-47545213, 47545224-47545225, 47545386-47545392, 47545406-47545409, 47545418, 47545422, 47545428-47545429, 47545444, 47545454, 47545510-47545531, 47545699-47545738, 47545754-47545865, 47545873, 47545877-47545878, 47545884, 47545895-47545896, 47545909-47546014, 47546022-47546028, 47546036-47546076, 47546083-47546090, 47546097-47546142, 47546417-47546433, 47546443-47546448, 47551868-47552401, 47552409-47552466 |
| 489 | COL6A2 | 21 | 0.02046783625731 | 335 | 342 | 47552183-47552401, 47552409-47552524 |
| 490 | FTCD | 21 | 0 | 1626 | 1626 | 47556901-47556987, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437 |
| 491 | PCNT | 21 | 0.9478573569074 | 522 | 10011 | 47744143-47744178, 47766115-47766122, 47766854-47766862, 47766883-47766891, 47769041-47769043, 47769070-47769075, 47769607-47769608, 47771345-47771354, 47771401-47771433, 47773982, 47775431-47775441, 47775511, 47783473-47783477, 47783552, 47783615-47783619, 47783685-47783689, 47783692, 47783738-47783779, 47786586-47786634, 47786653-47786747, 47786762-47786768, 47786817, 47786938-47786940, 47786947-47786948, 47786977-47787035, 47787042-47787054, 47801695-47801696, 47801742-47801752, 47808770, 47817372-47817375, 47818164-47818169, 47822356-47822364, 47831449-47831461, 47836429-47836432, 47836712-47836724, 47848348-47848355, 47848358-47848361, 47848444-47848448, 47848475-47848499 |
| 492 | PEX26 | 22 | 0.99564270152505 | 4 | 918 | 18561219-18561222 |
| 493 | PRODH | 22 | 0.69994453688297 | 541 | 1803 | 18901004, 18901007-18901018, 18904409-18904436, 18905859, 18905888, 18905931-18905975, 18908898-18908936, 18909867-18909871, 18910339-18910387, 18910401-18910422, 18910636-18910673, 18918550-18918573, 18918688, 18918700-18918701, 18923528-18923800 |
| 494 | GP1BB | 22 | 0.037037037037037 | 598 | 621 | 19711093-19711102, 19711377-19711521, 19711536-19711940, 19711950-19711987 |
| 495 | TBX1 | 22 | 0.46975806451613 | 789 | 1488 | 19747169-19747200, 19748428-19748712, 19750845-19750850, 19751701-19751720, 19753294-19753316, 19753330, 19753427, 19753430-19753470, 19753491-19753525, 19753912-19754002, 19754010-19754018, 19754022-19754075, 19754089-19754124, 19754152-19754207, 19754216-19754239, 19754263-19754264, 19754280, 19754298-19754354, 19754370, 19754377-19754390 |
| 496 | SMARCB1 | 22 | 0.98618307426598 | 16 | 1158 | 24175826-24175841 |
| 497 | HPS4 | 22 | 0.99857954545455 | 3 | 2112 | 26859940-26859942 |
| 498 | CHEK2 | 22 | 0.95002839295855 | 88 | 1761 | 29083889-29083917, 29083941-29083965, 29085163-29085171, 29090020-29090024, 29091840-29091841, 29126408-29126409, 29126459-29126474 |
| 499 | NF2 | 22 | 0.99384787472036 | 11 | 1788 | 30000066-30000076 |
| 500 | TCN2 | 22 | 0.98676012461059 | 17 | 1284 | 31006860, 31010369-31010370, 31022451-31022457, 31022483-31022489 |
| 501 | DRG1 | 22 | 0.99365942028986 | 7 | 1104 | 31796677, 31796680-31796685 |
| 502 | MYH9 | 22 | 0.98946115927248 | 62 | 5883 | 36685270, 36688082-36688102, 36689518-36689520, 36689523, 36690211-36690212, 36690989, 36691551-36691556, 36697082, 36697622-36697623, 36698653-36698663, 36700123-36700126, 36712688-36712692, 36718559-36718562 |
| 503 | TRIOBP | 22 | 0.94477317554241 | 392 | 7098 | 38119891-38119897, 38120038-38120068, 38121835-38121842, 38121980, 38122043-38122045, 38122126-38122170, 38122416, 38122449-38122455, 38122481-38122485, 38122497-38122501, 38129351, 38129356-38129358, 38129390-38129419, 38130408-38130424, 38130528, 38130535-38130544, 38130548-38130559, 38130615-38130622, 38130655-38130663, 38130674-38130700, 38130738-38130762, 38130857-38130860, 38130892-38130950, 38130973-38130974, 38131022-38131031, 38131044-38131045, 38131054, 38131075-38131087, 38131113, 38131161, 38131233-38131255, 38131314, 38131380-38131395, 38137017, 38150984, 38153845 |
| 504 | SOX10 | 22 | 0.98358315488936 | 23 | 1401 | 38379459-38379465, 38379541-38379547, 38379673-38379680, 38379691 |
| 505 | PLA2G6 | 22 | 0.067484662576687 | 456 | 489 | 38508274-38508312, 38508511-38508584, 38509494-38509518, 38509524-38509689, 38509702-38509704, 38509709-38509769, 38509782-38509869 |
| 506 | PLA2G6 | 22 | 0.57786038826931 | 1022 | 2421 | 38508168-38508312, 38508511-38508584, 38509494-38509518, 38509524-38509661, 38511534-38511688, 38512082-38512100, 38512126-38512198, 38512203-38512214, 38516766-38516791, 38516830-38516860, 38516865-38516873, 38516887-38516916, 38519102-38519135, 38519149, 38519160-38519161, 38519171, 38519176-38519184, 38519188-38519195, 38519207-38519265, 38522386-38522412, 38524284-38524328, 38524336-38524342, 38524399-38524419, 38524429-38524435, 38525484-38525504, 38525556-38525569, 38528907, 38528913-38528920, 38536054-38536057, 38536086-38536095, 38536098-38536103 |
| 507 | EP300 | 22 | 0.99627329192547 | 27 | 7245 | 41489071-41489090, 41546091-41546093, 41546105-41546108 |
| 508 | TNFRSF13C | 22 | 0.28468468468468 | 397 | 555 | 42321402-42321407, 42321411-42321421, 42321430-42321441, 42321476-42321483, 42321497, 42322105-42322133, 42322142-42322335, 42322642-42322777 |
| 509 | CYB5R3 | 22 | 0.96688741721854 | 30 | 906 | 43027441-43027450, 43045302-43045321 |
| 510 | ATXN10 | 22 | 0.99929971988796 | 1 | 1428 | 46067956 |
| 511 | TRMU | 22 | 0.94628751974724 | 68 | 1266 | 46731702-46731743, 46751369-46751387, 46751896-46751902 |
| 512 | ALG12 | 22 | 0.94342194955692 | 83 | 1467 | 50303681-50303697, 50303702-50303726, 50304159-50304167, 50307281-50307287, 50307306-50307330 |
| 513 | MLC1 | 22 | 0.97089947089947 | 33 | 1134 | 50502467-50502474, 50502565-50502572, 50502593-50502598, 50502607-50502610, 50512749-50512755 |
| 514 | SCO2 | 22 | 0.84769038701623 | 122 | 801 | 50962096-50962101, 50962112-50962113, 50962263-50962267, 50962384-50962400, 50962416-50962417, 50962421, 50962522-50962534, 50962575-50962610, 50962642, 50962655-50962661, 50962665-50962666, 50962671, 50962683, 50962700, 50962715, 50962726, 50962743, 50962763-50962769, 50962824-50962840 |
| 515 | TYMP | 22 | 0.29813664596273 | 1017 | 1449 | 50964199-50964347, 50964430-50964570, 50964675-50964905, 50965005-50965167, 50965594-50965606, 50965626-50965655, 50965689-50965704, 50966051-50966052, 50966130, 50967640-50967688, 50967691, 50967721-50967767, 50967925-50967973, 50967989-50967990, 50967999-50968054, 50968069, 50968073-50968138 |
| 516 | ARSA | 22 | 0.9238845144357 | 116 | 1524 | 51063578-51063585, 51063709-51063721, 51063783, 51063807-51063848, 51063862-51063892, 51064079, 51064377, 51064381-51064394, 51064694-51064697, 51065322 |
| 517 | SHANK3 | 22 | 0.61022120518688 | 2044 | 5244 | 51113070-51113132, 51113476-51113679, 51115050-51115079, 51115096-51115101, 51115106-51115121, 51117013-51117097, 51117109-51117121, 51117197-51117240, 51117255-51117348, 51117463-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133210-51133256, 51133283-51133306, 51133320-51133327, 51133354, 51133365-51133390, 51133430-51133435, 51135671-51135696, 51135703-51135719, 51135951-51136143, 51137118-51137137, 51137188, 51144500-51144507, 51144537-51144564, 51158618-51158622, 51158760-51158766, 51158777-51158785, 51158797-51158826, 51158834-51158884, 51158890-51158935, 51158950-51158971, 51158996, 51159011-51159012, 51159022-51159047, 51159050-51159051, 51159062-51159064, 51159079-51159080, 51159083, 51159086, 51159098-51159112, 51159130-51159160, 51159185-51159211, 51159252-51159279, 51159284-51159297, 51159307-51159310, 51159316-51159338, 51159412-51159435, 51159438-51159452, 51159705-51159713, 51159772-51159778, 51159917-51159944, 51160000-51160016, 51160317-51160340, 51169205-51169222, 51169228-51169229, 51169243-51169250, 51169287-51169298, 51169416-51169447, 51169462, 51169471-51169474, 51169527-51169569, 51169577-51169594, 51169630-51169640, 51169669-51169671, 51169677-51169682, 51169684, 51169699-51169734, 51169738 |
| 518 | FANCD2 | 3 | 0.99524456521739 | 21 | 4416 | 10088340-10088346, 10107165-10107171, 10114941-10114947 |
| 519 | VHL | 3 | 0.91121495327103 | 57 | 642 | 10183611, 10183661-10183664, 10183668, 10183692, 10183703, 10183721-10183728, 10183733-10183740, 10183776-10183780, 10183787-10183798, 10183844-10183859 |
| 520 | WNT7A | 3 | 0.99714285714286 | 3 | 1050 | 13921269-13921271 |
| 521 | TMEM43 | 3 | 0.99334995843724 | 8 | 1203 | 14172379-14172386 |
| 522 | CRTAP | 3 | 0.98009950248756 | 24 | 1206 | 33155797-33155801, 33155868-33155869, 33155906-33155912, 33155963-33155972 |
| 523 | SCN5A | 3 | 0.99949057564952 | 3 | 5889 | 38645409-38645410, 38674712 |
| 524 | TMIE | 3 | 0.42047930283224 | 266 | 459 | 46742860-46743057, 46743067-46743070, 46747309-46747339, 46750627, 46750667, 46750715-46750745 |
| 525 | TMIE | 3 | 0.64543524416136 | 167 | 471 | 46742978-46743057, 46743067-46743070, 46747309-46747339, 46750627, 46750667, 46750715-46750756, 46751074-46751081 |
| 526 | TREX1 | 3 | 0.95495495495495 | 50 | 1110 | 48508027-48508052, 48508378-48508387, 48508478, 48508669-48508676, 48508848, 48508889, 48508896, 48508907-48508908 |
| 527 | COL7A1 | 3 | 0.89462365591398 | 931 | 8835 | 48607767, 48612148-48612153, 48612816-48612822, 48612903, 48613062-48613105, 48613167-48613177, 48613334-48613335, 48613716-48613724, 48614130-48614154, 48614184, 48614200-48614201, 48614344-48614345, 48614352, 48615928, 48616372, 48616378, 48616634-48616640, 48616666-48616710, 48616810-48616813, 48617036, 48617070, 48617089, 48617092-48617101, 48617480-48617488, 48617756-48617777, 48619173, 48619370-48619376, 48619941-48619942, 48620058-48620063, 48620083-48620086, 48621047-48621048, 48621343-48621362, 48621369-48621386, 48622510-48622513, 48622528-48622549, 48622990-48623030, 48623124, 48623559-48623569, 48623607-48623613, 48623619, 48623622-48623625, 48623629, 48623765-48623770, 48623795-48623831, 48623842-48623874, 48623895, 48624013, 48624016-48624021, 48624072, 48624090, 48624108-48624110, 48624435, 48624456, 48624465-48624473, 48624503-48624505, 48624508-48624509, 48624623-48624637, 48624664, 48624675-48624677, 48624688-48624692, 48624735-48624769, 48624853-48624878, 48624916, 48624928-48624930, 48624936-48624937, 48624940, 48625229-48625240, 48625248-48625249, 48625262-48625302, 48625306-48625309, 48625321-48625347, 48625369-48625372, 48625792-48625823, 48626075-48626098, 48626129, 48626164-48626183, 48626218-48626221, 48626337-48626374, 48626760-48626764, 48626783, 48626786-48626796, 48626832-48626863, 48626893-48626903, 48627032-48627033, 48627055-48627084, 48627107-48627113, 48627140-48627151, 48627695, 48627700-48627701, 48627705, 48627708, 48628913-48628915, 48629144-48629157, 48629538, 48629621-48629627, 48629666-48629674, 48629813, 48630226-48630232 |
| 528 | SLC25A20 | 3 | 0.99337748344371 | 6 | 906 | 48936148-48936150, 48936183, 48936186-48936187 |
| 529 | LAMB2 | 3 | 0.99277376320178 | 39 | 5397 | 49158726, 49160266, 49160270, 49160274, 49160343, 49160746, 49161908, 49162011, 49162441-49162442, 49162704-49162712, 49162816, 49162879, 49166248, 49167409-49167410, 49169132-49169146 |
| 530 | AMT | 3 | 0.95874587458746 | 50 | 1212 | 49456446, 49456462-49456466, 49456814, 49456831, 49459005, 49459546, 49459803, 49459845-49459883 |
| 531 | GNAT1 | 3 | 0.92402659069326 | 80 | 1053 | 50231023, 50231094-50231096, 50231245-50231246, 50231542-50231580, 50232081, 50232227, 50232257, 50232294-50232325 |
| 532 | HYAL1 | 3 | 0.96177370030581 | 50 | 1308 | 50338031, 50338062, 50338122, 50338443-50338446, 50339601-50339639, 50339828-50339829, 50340026, 50340261 |
| 533 | TNNC1 | 3 | 0.940329218107 | 29 | 486 | 52485306-52485314, 52485825-52485826, 52486191-52486193, 52486226, 52486230, 52486502, 52486513-52486517, 52486528-52486529, 52488026-52488030 |
| 534 | TKT | 3 | 0.9866452991453 | 25 | 1872 | 53262082-53262086, 53264485, 53289852-53289865, 53289954-53289958 |
| 535 | FLNB | 3 | 0.99577410679985 | 33 | 7809 | 57994420-57994452 |
| 536 | PDHB | 3 | 0.99907407407407 | 1 | 1080 | 58416592 |
| 537 | ATXN7 | 3 | 0.89323467230444 | 303 | 2838 | 63898275-63898334, 63898349-63898591 |
| 538 | PROS1 | 3 | 0.99064500246184 | 19 | 2031 | 93595820-93595824, 93611790-93611803 |
| 539 | ARL13B | 3 | 0.91841491841492 | 105 | 1287 | 93761887-93761912, 93761943-93761953, 93761973-93761988, 93762010-93762053, 93762068, 93762071-93762077 |
| 540 | CPOX | 3 | 0.89377289377289 | 145 | 1365 | 98311872-98311890, 98311952-98311958, 98312041, 98312086-98312087, 98312091-98312101, 98312145-98312190, 98312230-98312235, 98312241-98312289, 98312313-98312316 |
| 541 | RHO | 3 | 0.99904489016237 | 1 | 1047 | 129251397 |
| 542 | NPHP3 | 3 | 0.99624342599549 | 15 | 3993 | 132405189-132405192, 132438637, 132438640-132438642, 132440986, 132440991-132440996 |
| 543 | FOXL2 | 3 | 0.84526967285588 | 175 | 1131 | 138664520-138664522, 138664560-138664583, 138664622-138664626, 138664680-138664681, 138664686, 138664694, 138664698-138664701, 138664716, 138664821-138664826, 138664837-138664845, 138664858-138664898, 138665034-138665064, 138665117-138665136, 138665197-138665216, 138665362-138665368 |
| 544 | HPS3 | 3 | 0.99734660033167 | 8 | 3015 | 148877911-148877918 |
| 545 | GHSR | 3 | 0.99909173478656 | 1 | 1101 | 172166033 |
| 546 | SOX2 | 3 | 0.9979035639413 | 2 | 954 | 181430167, 181430543 |
| 547 | ALG3 | 3 | 0.98709187547456 | 17 | 1317 | 183966625-183966635, 183966641, 183966646, 183966650-183966653 |
| 548 | CLCN2 | 3 | 0.97664071190211 | 63 | 2697 | 184070933-184070935, 184071457-184071460, 184071500-184071502, 184071889-184071892, 184072040-184072069, 184072336-184072352, 184074872, 184075016 |
| 549 | OPA1 | 3 | 0.99770341207349 | 7 | 3048 | 193355043-193355049 |
| 550 | CPN2 | 3 | 0.9047619047619 | 156 | 1638 | 194061856, 194061866-194061880, 194061960, 194062062, 194062071-194062107, 194062192-194062197, 194062257, 194062298-194062332, 194062528, 194062719, 194062801-194062848, 194063041-194063047, 194063264, 194063335 |
| 551 | PDE6B | 4 | 0.95204678362573 | 123 | 2565 | 619609-619611, 619744-619745, 619788, 647641-647650, 647753-647773, 647914-647916, 647931, 648626, 648651, 649758, 649769, 650059-650060, 650670-650675, 650755, 650800-650807, 651226-651232, 651263-651283, 652741, 652765-652781, 656912, 658674-658676, 658684, 659059-659063, 663835-663838, 663894 |
| 552 | IDUA | 4 | 0.031600407747197 | 1900 | 1962 | 980873-981030, 981597-981737, 994400-994485, 994688-994777, 995256-995351, 995467-995615, 995622-995669, 995770-995855, 995870-995949, 996057-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997413, 997805-997900, 998048-998108, 998117-998170 |
| 553 | FGFR3 | 4 | 0.20519159456119 | 1929 | 2427 | 1795662-1795770, 1800987-1801109, 1801120-1801250, 1801474-1801525, 1801536-1801539, 1803094-1803263, 1803347-1803470, 1803562-1803711, 1803720-1803752, 1804660-1804663, 1804669-1804670, 1804674-1804744, 1804754, 1804764-1804791, 1806057-1806085, 1806109-1806131, 1806140-1806247, 1806599-1806623, 1806643-1806696, 1807082-1807084, 1807090-1807092, 1807135-1807173, 1807185-1807190, 1807195-1807203, 1807309-1807376, 1807379-1807396, 1807477-1807510, 1807522-1807551, 1807561-1807658, 1807778-1807785, 1807811, 1807829-1807830, 1807849-1807853, 1807860-1807895, 1808030-1808054, 1808293-1808332, 1808343-1808374, 1808396-1808408, 1808556-1808661, 1808851-1808871, 1808874, 1808878-1808879, 1808893-1808902, 1808905-1808917, 1808921, 1808926-1808989 |
| 554 | SH3BP2 | 4 | 0.85998922994076 | 260 | 1857 | 2819951-2819989, 2820004-2820006, 2820034-2820091, 2820113-2820117, 2831382-2831383, 2831421, 2831523, 2831689-2831695, 2831780-2831785, 2831841, 2833301-2833320, 2833675-2833677, 2834085-2834116, 2834754-2834776, 2835492-2835498, 2835507-2835511, 2835514-2835560 |
| 555 | HTT | 4 | 0.9724254958108 | 260 | 9429 | 3076604-3076677, 3076700-3076734, 3076786-3076791, 3076800, 3076805-3076809, 3215736-3215742, 3234914-3234915, 3234945-3234963, 3240249-3240253, 3240299-3240303, 3240318, 3240545-3240560, 3240568, 3240586-3240590, 3240625-3240627, 3240655-3240683, 3241576-3241595, 3241716-3241726, 3241732-3241738, 3241779-3241786 |
| 556 | DOK7 | 4 | 0.14851485148515 | 1290 | 1515 | 3465103-3465156, 3465233-3465278, 3475133-3475175, 3475194-3475272, 3475289-3475296, 3475299-3475304, 3475310-3475319, 3475331-3475338, 3475345-3475363, 3478069-3478114, 3478139-3478231, 3478249-3478269, 3487266-3487385, 3491453-3491472, 3491477, 3491495-3491523, 3494486-3494547, 3494554-3494701, 3494724, 3494729-3494805, 3494813-3494817, 3494835-3495228 |
| 557 | DOK7 | 4 | 0.094754653130288 | 535 | 591 | 3494489-3494547, 3494554-3494701, 3494724, 3494729-3494805, 3494813-3494817, 3494835-3495079 |
| 558 | EVC2 | 4 | 0.99134199134199 | 34 | 3927 | 5710146-5710151, 5710169-5710170, 5710203, 5710214-5710238 |
| 559 | EVC | 4 | 0.97280966767372 | 81 | 2979 | 5713108-5713140, 5713193-5713225, 5713239-5713245, 5713249, 5755639, 5800441-5800446 |
| 560 | WFS1 | 4 | 0.93976805087916 | 161 | 2673 | 6279321-6279368, 6292994-6293015, 6293061-6293078, 6293646-6293661, 6293673-6293716, 6303345-6303347, 6303943-6303944, 6304037-6304043, 6304114 |
| 561 | CNGA1 | 4 | 0.99868421052632 | 3 | 2280 | 47954701-47954703 |
| 562 | COQ2 | 4 | 0.9974025974026 | 3 | 1155 | 84205857-84205859 |
| 563 | PKD2 | 4 | 0.98211214310286 | 52 | 2907 | 88928908-88928915, 88928949-88928974, 88928985-88928991, 88928998-88929002, 88929174-88929179 |
| 564 | MANBA | 4 | 0.99810606060606 | 5 | 2640 | 103681958-103681961, 103682006 |
| 565 | CISD2 | 4 | 0.91911764705882 | 33 | 408 | 103808498-103808522, 103808580-103808587 |
| 566 | CFI | 4 | 0.99029680365297 | 17 | 1752 | 110723103-110723119 |
| 567 | ANK2 | 4 | 0.99974734714502 | 3 | 11874 | 114158316-114158318 |
| 568 | BBS7 | 4 | 0.99627560521415 | 8 | 2148 | 122782742-122782749 |
| 569 | MFSD8 | 4 | 0.99935773924213 | 1 | 1557 | 128859993 |
| 570 | FGA | 4 | 0.99692425990004 | 8 | 2601 | 155507590, 155507665-155507671 |
| 571 | CTSO | 4 | 0.99378881987578 | 6 | 966 | 156874962-156874966, 156874970 |
| 572 | GK | 4 | 0.99939831528279 | 1 | 1662 | 166199345 |
| 573 | SLC25A4 | 4 | 0.99554069119287 | 4 | 897 | 186064593-186064596 |
| 574 | SDHA | 5 | 0.81152882205514 | 376 | 1995 | 218472, 218483-218504, 218507-218518, 223682-223683, 224633, 225559-225596, 226160, 228300, 228359-228365, 231111, 233727, 235388-235429, 236646-236681, 240518-240529, 251108-251149, 251173-251218, 251508, 251535-251568, 254596-254621, 256468-256517 |
| 575 | SLC6A19 | 5 | 0.47086614173228 | 1008 | 1905 | 1201766-1201967, 1208873-1208911, 1208914-1208917, 1208921, 1208926-1208939, 1208942, 1208949-1208957, 1208960, 1208964-1209001, 1210559-1210696, 1212469-1212539, 1212598-1212599, 1213578-1213688, 1214069-1214148, 1214156-1214180, 1216673-1216674, 1216699-1216732, 1216775, 1216801, 1216915-1216946, 1217030-1217034, 1217038, 1217053, 1219018-1219025, 1219050-1219072, 1219104-1219119, 1219188-1219195, 1219199, 1219219-1219222, 1219620-1219659, 1219675-1219707, 1219718-1219779 |
| 576 | TERT | 5 | 0.36010591350397 | 2175 | 3399 | 1253843-1253875, 1253915-1253930, 1254493-1254513, 1254519, 1254558-1254561, 1254564-1254568, 1254595-1254614, 1254618, 1255418, 1255499, 1258713-1258745, 1258752-1258774, 1264537, 1264557-1264560, 1264665-1264666, 1264669-1264672, 1264695, 1264699, 1266579-1266616, 1266622-1266650, 1268635-1268748, 1271234-1271248, 1271257-1271319, 1272300-1272395, 1278756-1278792, 1278798-1278803, 1278813-1278904, 1279407-1279414, 1279416, 1279419-1279424, 1279440-1279444, 1279455-1279456, 1279459, 1279470-1279540, 1279547-1279550, 1279560-1279585, 1280273-1280388, 1280402-1280453, 1282544-1282559, 1282585-1282592, 1282597, 1282621, 1282662-1282688, 1282717-1282739, 1293428-1293449, 1293476-1293482, 1293511-1293524, 1293541-1293563, 1293580-1293651, 1293678-1293698, 1293701, 1293720-1293726, 1293745, 1293751, 1293766-1293769, 1293782, 1293787, 1293816-1293861, 1293935-1294009, 1294027-1294124, 1294143-1294184, 1294209-1294234, 1294258-1294374, 1294394-1294458, 1294471-1294507, 1294529-1294781, 1294886-1294973, 1294982-1295104 |
| 577 | SLC6A3 | 5 | 0.92860976918948 | 133 | 1863 | 1406373-1406386, 1409141-1409143, 1409158-1409198, 1409231-1409234, 1409915-1409916, 1409942-1409955, 1411374, 1411377-1411381, 1411412, 1414849-1414854, 1420684-1420701, 1422025-1422028, 1422077-1422084, 1422118-1422129 |
| 578 | SDHA | 5 | 0.75840978593272 | 79 | 327 | 1589426-1589435, 1593261-1593285, 1594511-1594554 |
| 579 | NDUFS6 | 5 | 0.69866666666667 | 113 | 375 | 1801532-1801588, 1801595-1801643, 1801662-1801663, 1802435-1802439 |
| 580 | DNAH5 | 5 | 0.99956756756757 | 6 | 13875 | 13810269-13810271, 13810276-13810277, 13810310 |
| 581 | FAM134B | 5 | 0.99263721552878 | 11 | 1494 | 16616957-16616967 |
| 582 | ITGA2 | 5 | 0.99407783417936 | 21 | 3546 | 52285321-52285341 |
| 583 | SMN2 | 5 | 0.93785310734463 | 55 | 885 | 69345518-69345542, 69362946-69362961, 69366470-69366482, 69372353 |
| 584 | SMN2 | 5 | 0.93898305084746 | 54 | 885 | 70220936-70220960, 70238370-70238385, 70241895-70241907 |
| 585 | HEXB | 5 | 0.99401555954518 | 10 | 1671 | 73981119-73981128 |
| 586 | ARSB | 5 | 0.99750312109863 | 4 | 1602 | 78280760-78280763 |
| 587 | RASA1 | 5 | 0.99872773536896 | 4 | 3144 | 86670074-86670077 |
| 588 | GPR98 | 5 | 0.99910152740341 | 17 | 18921 | 90079813-90079817, 90084059-90084063, 90144567-90144568, 90144606-90144610 |
| 589 | WDR36 | 5 | 0.99859943977591 | 4 | 2856 | 110448804-110448807 |
| 590 | LMNB1 | 5 | 0.91993185689949 | 141 | 1761 | 126113204-126113251, 126113288-126113314, 126113362-126113365, 126113376-126113379, 126113392-126113395, 126113451-126113492, 126113515-126113526 |
| 591 | FBN2 | 5 | 0.99725369035359 | 24 | 8739 | 127654610, 127863642-127863660, 127873293-127873296 |
| 592 | SLC22A5 | 5 | 0.98028673835125 | 33 | 1674 | 131705877-131705887, 131705921, 131705926-131705933, 131705948-131705960 |
| 593 | DIAPH1 | 5 | 0.98900235663786 | 42 | 3819 | 140953560-140953601 |
| 594 | SPINK5 | 5 | 0.98447488584475 | 51 | 3285 | 147499898-147499948 |
| 595 | TCOF1 | 5 | 0.98737373737374 | 55 | 4356 | 149755065-149755075, 149755078, 149755803-149755804, 149755822-149755854, 149758935-149758941, 149758944 |
| 596 | MSX2 | 5 | 0.99129353233831 | 7 | 804 | 174151856, 174151868-174151869, 174151873-174151875, 174151901 |
| 597 | F12 | 5 | 0.90893470790378 | 53 | 582 | 176829381, 176830263-176830306, 176830356-176830363 |
| 598 | F12 | 5 | 0.78896103896104 | 390 | 1848 | 176829381, 176830263-176830306, 176830356-176830363, 176830482-176830524, 176830533, 176830560, 176830566, 176830571-176830572, 176830585-176830589, 176830601-176830618, 176830860-176830864, 176830867-176830869, 176830873, 176830879-176830908, 176830915-176830942, 176830953-176830954, 176830963-176831009, 176831051-176831058, 176831083-176831091, 176831197-176831209, 176831300-176831344, 176831354-176831359, 176831361-176831364, 176831375-176831376, 176831521-176831526, 176831570-176831591, 176831606, 176831618-176831633, 176831657-176831665, 176832063, 176832066, 176832071-176832077 |
| 599 | NHP2 | 5 | 0.93073593073593 | 32 | 462 | 177576714, 177580554-177580560, 177580688-177580705, 177580730-177580735 |
| 600 | GRM6 | 5 | 0.9540622627183 | 121 | 2634 | 178409990, 178413302-178413308, 178413487-178413488, 178415971, 178415982, 178415985, 178416125-178416130, 178418876-178418880, 178421586-178421587, 178421629, 178421665-178421704, 178421710, 178421893-178421945 |
| 601 | SQSTM1 | 5 | 0.83068783068783 | 224 | 1323 | 179247937-179248115, 179248125-179248141, 179250988-179250998, 179251069-179251085 |
| 602 | FLT4 | 5 | 0.23680351906158 | 3123 | 4092 | 180038382, 180038430, 180039550-180039552, 180039589, 180039592, 180041087-180041097, 180041142-180041143, 180043388, 180043393-180043413, 180043449-180043489, 180043905-180043920, 180043970-180043994, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047878-180048007, 180048106-180048252, 180048542-180048904, 180049731-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545 |
| 603 | FOXC1 | 6 | 0.53369434416366 | 775 | 1662 | 1610681-1610684, 1610710-1610717, 1610757-1610825, 1610832-1610863, 1610880-1610918, 1610933-1610947, 1610958-1610959, 1610969-1610986, 1611034-1611037, 1611087-1611093, 1611132-1611216, 1611279-1611280, 1611293-1611330, 1611373-1611379, 1611398-1611428, 1611462-1611480, 1611490-1611491, 1611494, 1611510-1611511, 1611522-1611568, 1611579-1611603, 1611629-1611710, 1611755-1611778, 1611795-1611814, 1611913-1612080, 1612142-1612146, 1612152, 1612167-1612170, 1612173, 1612178-1612190 |
| 604 | TUBB2B | 6 | 0.85874439461883 | 189 | 1338 | 3224998-3225056, 3225189, 3225286-3225326, 3225355, 3225400-3225423, 3225443, 3225486-3225514, 3225795, 3225931-3225932, 3225970, 3226038, 3226419, 3227721-3227741, 3227767-3227772 |
| 605 | DSP | 6 | 0.99988393686165 | 1 | 8616 | 7585796 |
| 606 | ATXN1 | 6 | 0.99264705882353 | 18 | 2448 | 16306636, 16327865-16327867, 16327873, 16327881-16327883, 16327894, 16327897, 16327900, 16327903, 16327909, 16327916-16327918, 16327921, 16327930 |
| 607 | ALDH5A1 | 6 | 0.98603521554341 | 23 | 1647 | 24495334-24495356 |
| 608 | HLA-H | 6 | 0.328 | 504 | 750 | 29855764-29855826, 29855847-29855908, 29855919-29855955, 29855975-29855988, 29855999-29856001, 29856258-29856470, 29856513-29856521, 29856534, 29856542-29856543, 29856546-29856596, 29856609-29856611, 29856631-29856643, 29856674-29856686, 29856693, 29856695-29856697, 29856713-29856714, 29856718, 29856729-29856740, 29856746 |
| 609 | NEU1 | 6 | 0.99038461538462 | 12 | 1248 | 31829847-31829858 |
| 610 | TNXB | 6 | 0.82892690513219 | 330 | 1929 | 31976872, 31976896-31976929, 31977074-31977092, 31977388-31977404, 31977504, 31977525-31977555, 31977620, 31977759, 31977994-31978002, 31978106, 31978356, 31978480-31978481, 31978498-31978529, 31978975, 31979381, 31979417-31979460, 31979476-31979482, 31979504-31979536, 31979565-31979582, 31979599-31979622, 31979980-31980003, 31980071-31980098 |
| 611 | CYP21A2 | 6 | 0.92876344086022 | 106 | 1488 | 32006215-32006219, 32006233, 32006317, 32006337, 32006520, 32006523, 32006886, 32007203, 32007790, 32007884-32007890, 32008359-32008360, 32008448-32008454, 32008685, 32008694-32008696, 32008726-32008767, 32008877-32008907 |
| 612 | TNXB | 6 | 0.95082096001257 | 626 | 12729 | 32009648-32009664, 32009700, 32009809-32009827, 32010123-32010139, 32010261-32010263, 32010272, 32010286, 32010354, 32010479-32010493, 32010728-32010756, 32010840, 32011090, 32011231-32011251, 32011904, 32012235, 32012274, 32012288-32012290, 32012306-32012336, 32012370-32012387, 32012427, 32012431-32012432, 32012456, 32012945-32012952, 32014168-32014187, 32014202-32014209, 32015522-32015524, 32015663-32015669, 32023711, 32023774, 32023866-32023901, 32024390-32024393, 32024405, 32024522-32024532, 32024639-32024680, 32025866-32025868, 32025905, 32025957, 32026002-32026006, 32026071, 32026112, 32029174-32029181, 32029192-32029194, 32029203, 32029212-32029218, 32029222, 32029226, 32029295, 32029350, 32029415-32029417, 32032638-32032670, 32035463-32035465, 32035606, 32053801-32053806, 32056633, 32056637-32056638, 32057143-32057156, 32063603, 32063925, 32064000-32064004, 32064106-32064110, 32064123, 32064256-32064332, 32064378-32064379, 32064422-32064426, 32064519-32064526, 32064549-32064590, 32064678-32064679, 32064721-32064722, 32064726, 32064731, 32064737-32064739, 32064807-32064809, 32064813, 32064847-32064848, 32064901, 32065055-32065089, 32065920-32065921 |
| 613 | HLA-DQA1 | 6 | 0.95442708333333 | 35 | 768 | 32609173, 32609207, 32609952, 32609969, 32609974, 32610387-32610406, 32610532-32610541 |
| 614 | HLA-DQB1 | 6 | 0.79770992366412 | 159 | 786 | 32629124-32629173, 32629224-32629234, 32629802, 32632575-32632653, 32632694-32632696, 32632700-32632714 |
| 615 | COL11A2 | 6 | 0.99904049126847 | 5 | 5211 | 33140133-33140134, 33159986-33159988 |
| 616 | SYNGAP1 | 6 | 0.91592261904762 | 339 | 4032 | 33388042-33388108, 33393575, 33393657-33393662, 33393667, 33405670, 33411185-33411232, 33411327-33411344, 33411385-33411403, 33411446-33411460, 33411468-33411533, 33411545-33411556, 33411594, 33411601-33411602, 33411605, 33411619-33411698, 33411727 |
| 617 | FANCE | 6 | 0.98261949099938 | 28 | 1611 | 35420404-35420431 |
| 618 | TULP1 | 6 | 0.99017802332719 | 16 | 1629 | 35479566-35479571, 35479574-35479577, 35479960-35479965 |
| 619 | LHFPL5 | 6 | 0.99848484848485 | 1 | 660 | 35773580 |
| 620 | MOCS1 | 6 | 0.76766091051805 | 444 | 1911 | 39881537-39881540, 39883885-39883891, 39883942-39883950, 39883961-39883965, 39883973, 39893422-39893589, 39895068-39895317 |
| 621 | PRPH2 | 6 | 0.9759846301633 | 25 | 1041 | 42672152-42672169, 42672210-42672216 |
| 622 | PEX6 | 6 | 0.99728168535508 | 8 | 2943 | 42936690, 42936713, 42946374, 42946650-42946654 |
| 623 | RSPH9 | 6 | 0.90493381468111 | 79 | 831 | 43612836-43612865, 43612890-43612911, 43612984-43613010 |
| 624 | RUNX2 | 6 | 0.97701149425287 | 36 | 1566 | 45390466-45390469, 45390481-45390489, 45390501-45390523 |
| 625 | EYS | 6 | 0.99978802331744 | 2 | 9435 | 65016974-65016975 |
| 626 | LMBRD1 | 6 | 0.99938385705484 | 1 | 1623 | 70462156 |
| 627 | RIMS1 | 6 | 0.99783421933451 | 11 | 5079 | 72892344-72892347, 72892370-72892376 |
| 628 | OSTM1 | 6 | 0.86467661691542 | 136 | 1005 | 108395473-108395483, 108395537-108395555, 108395653, 108395699-108395747, 108395769-108395775, 108395793-108395831, 108395837-108395846 |
| 629 | LAMA2 | 6 | 0.99092171312613 | 85 | 9363 | 129704268-129704326, 129704349-129704354, 129712718-129712737 |
| 630 | ENPP1 | 6 | 0.9996400287977 | 1 | 2778 | 132129186 |
| 631 | PEX7 | 6 | 0.99691358024691 | 3 | 972 | 137143861, 137143864, 137143867 |
| 632 | PEX3 | 6 | 0.98128342245989 | 21 | 1122 | 143792098-143792117, 143792558 |
| 633 | EPM2A | 6 | 0.98995983935743 | 10 | 996 | 146056476, 146056499-146056507 |
| 634 | IYD | 6 | 0.99885057471264 | 1 | 870 | 150690317 |
| 635 | TBP | 6 | 0.90196078431373 | 100 | 1020 | 170871010-170871109 |
| 636 | LFNG | 7 | 0.15263157894737 | 966 | 1140 | 2559496-2559927, 2564329-2564370, 2564853-2564939, 2565057-2565064, 2565073-2565076, 2565085-2565163, 2565172-2565190, 2565319-2565383, 2565387, 2565392-2565394, 2565878-2565906, 2565933-2566014, 2566018, 2566470-2566514, 2566523-2566544, 2566780-2566787, 2566808-2566846 |
| 637 | PMS2 | 7 | 0.97528003089996 | 64 | 2589 | 6017223-6017229, 6026509, 6026513-6026516, 6026845-6026847, 6026871-6026886, 6026942, 6026984-6026991, 6029438-6029461 |
| 638 | TWIST1 | 7 | 0.54022988505747 | 280 | 609 | 19156457, 19156550-19156577, 19156590-19156596, 19156605-19156664, 19156668, 19156686-19156688, 19156691-19156696, 19156700-19156706, 19156760, 19156764-19156766, 19156782-19156944 |
| 639 | DNAH11 | 7 | 0.99977895667551 | 3 | 13572 | 21630948-21630949, 21920352 |
| 640 | HOXA13 | 7 | 0.5929734361611 | 475 | 1167 | 27239058-27239063, 27239074-27239103, 27239112-27239134, 27239168-27239219, 27239241-27239290, 27239317-27239352, 27239360-27239403, 27239411-27239642, 27239659, 27239667 |
| 641 | RP9 | 7 | 0.9984984984985 | 1 | 666 | 33134883 |
| 642 | GLI3 | 7 | 0.99493991144845 | 24 | 4743 | 42005588-42005596, 42005633-42005646, 42005901 |
| 643 | PGAM2 | 7 | 0.99606299212598 | 3 | 762 | 44105047-44105049 |
| 644 | GCK | 7 | 0.96645253390435 | 47 | 1401 | 44186110-44186133, 44191876, 44192951-44192972 |
| 645 | CCM2 | 7 | 0.72284644194757 | 370 | 1335 | 45039933-45039944, 45039946-45039962, 45077994-45077995, 45113077-45113106, 45113125-45113170, 45113878-45113891, 45113907-45113930, 45113949-45114007, 45115383, 45115394-45115435, 45115451-45115495, 45115516, 45115547-45115560, 45115594-45115656 |
| 646 | EGFR | 7 | 0.98898981557941 | 40 | 3633 | 55086999-55087038 |
| 647 | GUSB | 7 | 0.99539877300613 | 9 | 1956 | 65439939, 65446995-65447002 |
| 648 | ASL | 7 | 0.41075268817204 | 822 | 1395 | 65546864-65546902, 65546923-65546983, 65547387-65547410, 65547432-65547438, 65548064-65548128, 65548149, 65551576-65551585, 65551610-65551649, 65551732-65551760, 65551781-65551808, 65552321, 65552358, 65552716-65552717, 65552760-65552766, 65553794-65553901, 65554078-65554084, 65554098-65554162, 65554273-65554288, 65554315-65554322, 65554599-65554682, 65556993-65556994, 65557000-65557009, 65557058-65557073, 65557544-65557648, 65557755-65557762, 65557780-65557794, 65557810-65557813, 65557818-65557825, 65557849-65557899 |
| 649 | KCTD7 | 7 | 0.89770114942529 | 89 | 870 | 66094074, 66094108-66094195 |
| 650 | SBDS | 7 | 0.99070385126162 | 7 | 753 | 66456158-66456164 |
| 651 | NCF1 | 7 | 0.76606060606061 | 193 | 825 | 72639935-72639963, 72640033-72640039, 72641475-72641481, 72643616, 72643663-72643710, 72644230-72644263, 72645877-72645878, 72645924-72645930, 72648671-72648705, 72648728-72648750 |
| 652 | FKBP6 | 7 | 0.9969512195122 | 3 | 984 | 72756882-72756884 |
| 653 | ELN | 7 | 0.87034482758621 | 282 | 2175 | 73442518-73442599, 73456983, 73457008-73457036, 73457451, 73462847-73462881, 73466098-73466101, 73466106-73466125, 73466254-73466313, 73467600-73467621, 73474225, 73474234-73474243, 73474281-73474288, 73474706-73474712, 73477647-73477648 |
| 654 | NCF1 | 7 | 0.77067348678602 | 269 | 1173 | 74193603-74193645, 74193673, 74197297, 74197305, 74197344-74197357, 74197938-74197944, 74202355-74202392, 74202408-74202432, 74202903-74202907, 74202950-74203048, 74203383-74203414, 74203433, 74203449, 74203466 |
| 655 | POR | 7 | 0.59422418012726 | 829 | 2043 | 75608848-75608855, 75609658-75609659, 75609666, 75609673, 75609711-75609744, 75610366-75610383, 75610441-75610453, 75610489, 75610872, 75610875, 75610888, 75610912-75610921, 75611578, 75611616-75611621, 75612852-75612862, 75613077-75613094, 75613100-75613106, 75613162-75613174, 75614095-75614128, 75614149, 75614164-75614166, 75614191-75614270, 75614376-75614441, 75614447-75614480, 75614486-75614488, 75614491-75614494, 75614504-75614525, 75614897-75614999, 75615006-75615022, 75615080, 75615095-75615104, 75615109-75615110, 75615136-75615167, 75615241-75615296, 75615307, 75615319-75615326, 75615362-75615386, 75615477-75615512, 75615532-75615542, 75615556-75615559, 75615655-75615748, 75615765-75615799 |
| 656 | HSPB1 | 7 | 0.93203883495146 | 42 | 618 | 75932053-75932071, 75932191, 75932269-75932271, 75932283-75932301 |
| 657 | AKAP9 | 7 | 0.99872057318321 | 15 | 11724 | 91690700-91690710, 91707173, 91708400, 91714944, 91714957 |
| 658 | TFR2 | 7 | 0.98877805486284 | 27 | 2406 | 100229456-100229477, 100238610-100238613, 100238711 |
| 659 | SLC26A4 | 7 | 0.9995731967563 | 1 | 2343 | 107302249 |
| 660 | SLC26A3 | 7 | 0.99956427015251 | 1 | 2295 | 107432368 |
| 661 | DLD | 7 | 0.99934640522876 | 1 | 1530 | 107556089 |
| 662 | CFTR | 7 | 0.97794283142021 | 98 | 4443 | 117144392, 117144395, 117188713-117188753, 117188760-117188800, 117188842-117188853, 117235029, 117235053 |
| 663 | IMPDH1 | 7 | 0.875 | 225 | 1800 | 128034964-128034971, 128035301-128035305, 128038483-128038489, 128038546-128038553, 128040526-128040532, 128045829-128045879, 128045916-128045919, 128049394-128049406, 128049495-128049504, 128049817-128049848, 128049850, 128049854, 128049858, 128049864-128049935, 128049951-128049955 |
| 664 | FLNC | 7 | 0.93519197847885 | 530 | 8178 | 128470692-128470794, 128470805-128470924, 128470931-128470940, 128470949-128470988, 128470997-128471021, 128475380-128475398, 128475608, 128475613, 128475623-128475626, 128477219-128477221, 128477232, 128477246, 128477259-128477269, 128477275-128477281, 128477291-128477311, 128477698-128477699, 128477732-128477747, 128478707, 128478761-128478789, 128478820-128478823, 128480092, 128480617, 128480718, 128480956, 128480959, 128480995-128480996, 128481237, 128481240, 128481530-128481533, 128481574, 128481577-128481578, 128481587-128481588, 128482312, 128482371, 128482394, 128482639-128482675, 128482719, 128482725-128482737, 128482743, 128482888-128482894, 128483363, 128483628, 128484151, 128490942, 128491602-128491610, 128492717, 128492720-128492723, 128494204, 128494223, 128494950, 128497344, 128498113-128498114, 128498187-128498193 |
| 665 | BRAF | 7 | 0.99391568883094 | 14 | 2301 | 140624404-140624417 |
| 666 | PRSS1 | 7 | 0.97043010752688 | 22 | 744 | 142459664-142459682, 142460313, 142460335, 142460339 |
| 667 | CLCN1 | 7 | 0.98887765419616 | 33 | 2967 | 143042694, 143042699, 143042727-143042729, 143042733-143042741, 143042744, 143042772-143042789 |
| 668 | KCNH2 | 7 | 0.925 | 261 | 3480 | 150644486-150644522, 150644551, 150644694, 150644724-150644741, 150644750-150644752, 150644786, 150645534, 150648633, 150648898-150648911, 150654486-150654494, 150655210-150655214, 150655434-150655447, 150671841, 150671847-150671858, 150671865-150671909, 150671997-150672018, 150674926-150675001 |
| 669 | SHH | 7 | 0.39524838012959 | 840 | 1389 | 155595594-155595713, 155595720-155596012, 155596028-155596222, 155596236-155596288, 155596298-155596305, 155596310, 155596314-155596322, 155596342, 155596360-155596418, 155599019-155599045, 155599061, 155599080-155599120, 155599138, 155599187-155599205, 155604771, 155604776-155604779, 155604788-155604793, 155604797 |
| 670 | MNX1 | 7 | 0.58291873963516 | 503 | 1206 | 156798237-156798241, 156798273-156798280, 156798426, 156798431-156798434, 156802362-156802386, 156802430, 156802516-156802533, 156802578-156802588, 156802599-156803025, 156803042-156803044 |
| 671 | CLN8 | 8 | 0.99419279907085 | 5 | 861 | 1719460, 1719519, 1728709-1728711 |
| 672 | GATA4 | 8 | 0.76373212942062 | 314 | 1329 | 11565853, 11565873-11565928, 11565947, 11565952, 11565957, 11565979-11566050, 11566053, 11566062, 11566065-11566066, 11566070-11566074, 11566080-11566088, 11566100, 11566118-11566166, 11566175-11566206, 11566218-11566219, 11566222-11566224, 11566232, 11566251-11566274, 11566286, 11566307-11566318, 11566324-11566325, 11566346, 11566350, 11566361-11566362, 11566369-11566378, 11566388-11566391, 11566397, 11566403-11566418, 11566421, 11566435 |
| 673 | ASAH1 | 8 | 0.996632996633 | 4 | 1188 | 17941510-17941513 |
| 674 | SFTPC | 8 | 0.98821548821549 | 7 | 594 | 22021414-22021419, 22021442 |
| 675 | NEFL | 8 | 0.9969362745098 | 5 | 1632 | 24813404-24813408 |
| 676 | FGFR1 | 8 | 0.99918798213561 | 2 | 2463 | 38271525-38271526 |
| 677 | ANK1 | 8 | 0.99982437653671 | 1 | 5694 | 41553928 |
| 678 | THAP1 | 8 | 0.92834890965732 | 46 | 642 | 42693105-42693110, 42693175-42693180, 42693260, 42693334-42693336, 42694353-42694369, 42694408-42694414, 42698167-42698168, 42698173-42698176 |
| 679 | HGSNAT | 8 | 0.93815513626834 | 118 | 1908 | 42995640-42995757 |
| 680 | RP1 | 8 | 0.99938185751816 | 4 | 6471 | 55537408-55537411 |
| 681 | TTPA | 8 | 0.98924731182796 | 9 | 837 | 63998480-63998488 |
| 682 | TMEM70 | 8 | 0.98850574712644 | 9 | 783 | 74888667-74888675 |
| 683 | GDF6 | 8 | 0.99853801169591 | 2 | 1368 | 97157410-97157411 |
| 684 | TNFRSF11B | 8 | 0.99917081260365 | 1 | 1206 | 119964052 |
| 685 | KIAA0196 | 8 | 0.99942528735632 | 2 | 3480 | 126095998-126095999 |
| 686 | KCNQ3 | 8 | 0.97632684230622 | 62 | 2619 | 133492484-133492494, 133492556-133492557, 133492646-133492654, 133492716-133492733, 133492758-133492779 |
| 687 | SLURP1 | 8 | 0.16025641025641 | 262 | 312 | 143822567-143822694, 143823221-143823293, 143823330, 143823336-143823337, 143823746-143823803 |
| 688 | CYP11B1 | 8 | 0.99801587301587 | 3 | 1512 | 143956378-143956380 |
| 689 | CYP11B2 | 8 | 0.98677248677249 | 20 | 1512 | 143994263-143994282 |
| 690 | PLEC | 8 | 0.25008893632159 | 10540 | 14055 | 144990350-144990362, 144990374-144990399, 144990409-144990452, 144990467-144990468, 144990482-144990485, 144990488-144990528, 144990553-144990575, 144990587-144990588, 144990610-144990659, 144990706, 144990751, 144990772-144990816, 144990840-144990873, 144990879-144990884, 144990887, 144990911-144990931, 144990959-144990999, 144991025-144991038, 144991043, 144991062-144991093, 144991189, 144991335, 144991381-144991399, 144991491-144991492, 144991547, 144991550-144991571, 144991624, 144991627-144991629, 144991678-144991710, 144991790, 144991816-144991831, 144991855-144991922, 144991957-144991971, 144992012-144992057, 144992152-144992193, 144992224-144992251, 144992260-144992299, 144992320-144992421, 144992436-144992442, 144992446-144992449, 144992458-144992468, 144992471-144992472, 144992497, 144992521-144992545, 144992560-144992606, 144992637, 144992679-144992708, 144992718-144992768, 144992802-144992839, 144992862-144992888, 144992929-144992942, 144992971, 144992976-144992977, 144993017-144993021, 144993069, 144993078, 144993087-144993091, 144993117-144993129, 144993172-144993196, 144993203-144993268, 144993275-144993315, 144993326-144993327, 144993332-144993334, 144993337-144993342, 144993346, 144993357-144993358, 144993379, 144993389, 144993401, 144993404, 144993409, 144993422, 144993527, 144993542-144993544, 144993571-144993614, 144993631, 144993650, 144993678-144993751, 144993782-144993885, 144993910-144993976, 144994001-144994022, 144994045-144994051, 144994095-144994124, 144994156-144994164, 144994187-144994226, 144994255, 144994306-144994386, 144994389-144994419, 144994429-144994431, 144994434-144994436, 144994464-144994500, 144994572, 144994609-144994653, 144994662-144994679, 144994695-144994703, 144994707-144994714, 144994722-144994725, 144994729-144994731, 144994771, 144994787, 144994796-144994898, 144994923-144994935, 144994965, 144994974-144995133, 144995142-144995168, 144995176, 144995240-144995263, 144995308-144995335, 144995342-144995439, 144995459-144995467, 144995477-144995511, 144995520-144995524, 144995552-144995606, 144995616-144995647, 144995664-144995713, 144995730-144995754, 144995762-144995804, 144995830-144995834, 144995840-144995920, 144995962-144995986, 144996011-144996040, 144996067, 144996073-144996110, 144996150-144996293, 144996315-144996331, 144996351-144996428, 144996446, 144996450, 144996459-144996563, 144996672-144996729, 144996737-144996797, 144996819-144996827, 144996848-144996886, 144996898-144997020, 144997024, 144997027, 144997030, 144997032, 144997051-144997123, 144997131-144997158, 144997185-144997191, 144997221-144997270, 144997279-144997316, 144997333-144997349, 144997374-144997379, 144997389-144997497, 144997516-144997576, 144997602-144997703, 144997720-144998207, 144998213-145000052, 145000952-145001050, 145001145-145001227, 145001234-145001249, 145001420-145001423, 145001447-145001449, 145001453, 145001462-145001503, 145001578-145001766, 145001773-145001934, 145002022-145002160, 145003271-145003280, 145003287-145003449, 145003582-145003739, 145003814-145003995, 145004104-145004230, 145004312-145004432, 145004440-145004466, 145004552-145004653, 145004699-145004704, 145005702-145005827, 145006105-145006200, 145006298-145006402, 145006568-145006729, 145006803-145006880, 145006961-145007279, 145007365-145007519, 145008166-145008259, 145008486-145008587, 145008595-145008613, 145008803-145008898, 145008978-145009097, 145009179-145009285, 145009366-145009481, 145010016-145010182, 145011147-145011239, 145011333-145011410, 145012319-145012355, 145012371-145012408, 145012799-145012806, 145012818-145012844, 145024352-145024390, 145024397-145024535, 145024550-145024756, 145024775-145024874 |
| 691 | GPT | 8 | 0.17370892018779 | 1232 | 1491 | 145729688-145729715, 145729727, 145729739-145729740, 145729787-145729817, 145729839, 145730017-145730076, 145730164-145730170, 145730192-145730205, 145730210-145730212, 145730247-145730248, 145730381-145730429, 145730463-145730494, 145730509-145730514, 145730629-145730872, 145731231-145731310, 145731378-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732226, 145732293-145732383 |
| 692 | RECQL4 | 8 | 0.10421836228288 | 3249 | 3627 | 145736814-145736938, 145737064-145737172, 145737294-145737450, 145737527-145737707, 145737775-145737944, 145738025-145738088, 145738097-145738154, 145738230-145738521, 145738601-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739490, 145739576-145739699, 145739709-145739746, 145739826-145739827, 145739835-145739838, 145739855-145739901, 145740320-145740420, 145740429-145740456, 145740534-145740552, 145740578, 145740598-145740626, 145740710-145740733, 145740756, 145740759-145740767, 145740772, 145740805-145740817, 145740833-145740841, 145741148-145741199, 145741207-145741236, 145741394-145741442, 145741474-145741524, 145741532-145741616, 145741625-145741846, 145741858-145741909, 145741924-145741958, 145741965, 145741970, 145741981-145742018, 145742021, 145742027-145742083, 145742089-145742125, 145742147-145742148, 145742434-145742480, 145742489-145742574, 145742798-145742892, 145742986-145743019, 145743085-145743168 |
| 693 | DOCK8 | 9 | 0.99587301587302 | 26 | 6300 | 377100-377106, 420978-420984, 452050-452061 |
| 694 | VLDLR | 9 | 0.99504195270786 | 13 | 2622 | 2622219-2622231 |
| 695 | GLIS3 | 9 | 0.99928392409595 | 2 | 2793 | 4117937-4117938 |
| 696 | GLDC | 9 | 0.97224942866471 | 85 | 3063 | 6645318-6645324, 6645339-6645366, 6645372, 6645388-6645397, 6645407-6645409, 6645415, 6645447-6645480, 6645499 |
| 697 | B4GALT1 | 9 | 0.99498746867168 | 6 | 1197 | 33167101-33167105, 33167120 |
| 698 | GRHPR | 9 | 0.98986828774063 | 10 | 987 | 37424861-37424870 |
| 699 | ROR2 | 9 | 0.97881355932203 | 60 | 2832 | 94495418-94495426, 94495611, 94712183-94712206, 94712219-94712243, 94712245 |
| 700 | FBP1 | 9 | 0.99901671583088 | 1 | 1017 | 97401459 |
| 701 | PTCH1 | 9 | 0.99033149171271 | 42 | 4344 | 98270504-98270533, 98270592-98270597, 98270601-98270606 |
| 702 | HSD17B3 | 9 | 0.9978563772776 | 2 | 933 | 99064369-99064370 |
| 703 | FOXE1 | 9 | 0.88502673796791 | 129 | 1122 | 100616199-100616203, 100616262-100616268, 100616308-100616329, 100616542-100616559, 100616635-100616636, 100616697-100616710, 100616824-100616833, 100617041-100617063, 100617126-100617153 |
| 704 | TGFBR1 | 9 | 0.99206349206349 | 12 | 1512 | 101867549, 101867554-101867555, 101867564-101867572 |
| 705 | DFNB31 | 9 | 0.99118942731278 | 24 | 2724 | 117266924-117266927, 117267008-117267027 |
| 706 | NR5A1 | 9 | 0.70851370851371 | 404 | 1386 | 127245168-127245171, 127245189, 127253410-127253428, 127253476-127253485, 127253491, 127255318-127255331, 127255371-127255373, 127255392-127255395, 127255398-127255408, 127255424, 127255428, 127262439-127262451, 127262517-127262561, 127262592-127262634, 127262744-127262790, 127262820-127262822, 127262883-127262894, 127265358-127265368, 127265398-127265499, 127265573-127265611, 127265621-127265624, 127265627-127265629, 127265654-127265665, 127265668 |
| 707 | LMX1B | 9 | 0.97140303842717 | 32 | 1119 | 129376810-129376837, 129376849-129376851, 129455587 |
| 708 | STXBP1 | 9 | 0.99779249448124 | 4 | 1812 | 130374683-130374686 |
| 709 | ENG | 9 | 0.80677794638341 | 382 | 1977 | 130577961-130577966, 130577994-130578036, 130578045-130578085, 130578256-130578259, 130578293-130578332, 130579459-130579482, 130580639-130580641, 130581089-130581111, 130581901-130581925, 130582280, 130587136-130587168, 130587601-130587620, 130587633, 130587636, 130588022-130588043, 130588052-130588092, 130588113, 130588116, 130588843, 130605385, 130605428-130605434, 130616568-130616605, 130616630-130616634 |
| 710 | GLE1 | 9 | 0.99904625655699 | 2 | 2097 | 131285893, 131286013 |
| 711 | DOLK | 9 | 0.80705009276438 | 312 | 1617 | 131707973-131707979, 131708033-131708040, 131708373-131708408, 131708487-131708488, 131708659, 131708888, 131708896-131708899, 131708902-131708903, 131708906-131708908, 131708981-131709045, 131709133-131709144, 131709219-131709260, 131709275-131709310, 131709363-131709382, 131709404-131709424, 131709470, 131709478, 131709483-131709487, 131709518-131709552, 131709563-131709565, 131709576-131709582 |
| 712 | TOR1A | 9 | 0.95695695695696 | 43 | 999 | 132586322-132586364 |
| 713 | POMT1 | 9 | 0.97750229568411 | 49 | 2178 | 134394300, 134394777, 134394807-134394809, 134394821-134394823, 134397443-134397463, 134397585-134397586, 134398323-134398340 |
| 714 | CEL | 9 | 0.71025979744606 | 658 | 2271 | 135937418-135937455, 135942572, 135942590, 135944521-135944527, 135944583-135944589, 135945985-135946018, 135946374-135946404, 135946499-135946531, 135946556-135946579, 135946593-135947074 |
| 715 | SURF1 | 9 | 0.84385382059801 | 141 | 903 | 136218991-136218997, 136221514-136221533, 136221750, 136221775-136221780, 136221783, 136221806-136221812, 136223124-136223141, 136223149-136223175, 136223276-136223329 |
| 716 | ADAMTS13 | 9 | 0.84267040149393 | 674 | 4284 | 136287658, 136291098-136291113, 136293754-136293891, 136295059-136295221, 136297730-136297745, 136297795-136297803, 136297809, 136298526-136298566, 136301982-136301984, 136302005-136302019, 136302032-136302034, 136302044-136302075, 136302918-136302945, 136303485-136303486, 136305503-136305535, 136305640, 136307527, 136307583-136307596, 136307758-136307759, 136308501-136308509, 136308639-136308653, 136308678-136308681, 136310838, 136310875, 136310934, 136313723-136313744, 136314910, 136319695-136319697, 136320461, 136320468, 136320471, 136320474, 136320505, 136320626, 136321205, 136321285, 136321288, 136321298, 136321314, 136321755-136321763, 136321770-136321778, 136321786, 136321817, 136321822, 136321840, 136323049-136323092, 136323179-136323182, 136324175, 136324178-136324181, 136324216, 136324226-136324234, 136324241-136324242 |
| 717 | DBH | 9 | 0.78640776699029 | 396 | 1854 | 136501566-136501572, 136501664-136501666, 136505024-136505037, 136505097-136505108, 136507412, 136513056-136513061, 136513113-136513117, 136516756-136516784, 136516810-136516812, 136516816-136516826, 136516837-136516840, 136516844, 136516850-136516865, 136516872-136516881, 136517368-136517398, 136521649, 136521671-136521721, 136521754, 136522192-136522351, 136523446-136523449, 136523453-136523454, 136523457-136523460, 136523511, 136523517, 136523520-136523536, 136523541 |
| 718 | SARDH | 9 | 0.77511788175553 | 620 | 2757 | 136529016-136529037, 136529047, 136529061-136529136, 136531857-136531992, 136535706-136535874, 136536657-136536695, 136536703-136536819, 136559435, 136559460, 136559475-136559482, 136568045, 136568053, 136568135-136568136, 136573412, 136577746-136577765, 136577821-136577831, 136578198-136578199, 136582455, 136582482, 136599205-136599214 |
| 719 | COL5A1 | 9 | 0.68334239622984 | 1747 | 5517 | 137534034-137534142, 137582758-137582800, 137582821-137582925, 137591755-137591959, 137591966-137591968, 137593017-137593179, 137619119, 137619223-137619243, 137620586-137620596, 137622082-137622086, 137622196-137622199, 137622203, 137622223-137622226, 137622277-137622290, 137623351-137623353, 137623436, 137623465-137623471, 137623501-137623507, 137623509, 137630329, 137630340, 137642388-137642427, 137642433-137642439, 137642457-137642462, 137642637, 137642649, 137642685-137642728, 137644452, 137644481-137644491, 137645696-137645698, 137645707-137645710, 137645739, 137646119-137646127, 137646149-137646168, 137648611-137648629, 137648642-137648645, 137650089-137650092, 137650105, 137650124, 137653782, 137653785-137653786, 137653798, 137653820-137653824, 137655539-137655547, 137655553-137655579, 137657561-137657564, 137657577, 137658300-137658305, 137658316-137658329, 137658846, 137658886, 137660257, 137660268-137660278, 137660280, 137660286, 137664636-137664642, 137664651-137664680, 137666747-137666758, 137671948-137671966, 137671988-137671989, 137674513-137674517, 137676851-137676942, 137677841-137677845, 137677869-137677894, 137681033-137681054, 137686928-137686954, 137686968-137686972, 137687133-137687158, 137688239-137688250, 137688694-137688723, 137690284-137690285, 137693800-137693801, 137693825-137693827, 137693840-137693853, 137694734-137694748, 137694785-137694787, 137694809-137694837, 137696821-137696830, 137696840, 137696843-137696844, 137696895-137696910, 137698056-137698057, 137698060, 137698107-137698135, 137701057-137701063, 137701115, 137703372-137703373, 137703378-137703379, 137703422-137703427, 137703444-137703445, 137704327-137704337, 137704454-137704480, 137704543-137704544, 137705833-137705856, 137705882, 137706684-137706686, 137706712-137706715, 137706721-137706732, 137706749-137706750, 137707794-137707797, 137707808-137707816, 137707833, 137708882-137708899, 137708908, 137708911-137708918, 137708923, 137709639-137709647, 137710502-137710558, 137710564-137710573, 137710576, 137710601-137710609, 137710694-137710713, 137710739-137710744, 137710870-137710885, 137713967, 137716686, 137726873-137726879, 137726918-137726939, 137726990-137726994, 137727013-137727025 |
| 720 | LHX3 | 9 | 0.58147229114971 | 506 | 1209 | 139089214-139089215, 139089221-139089227, 139089243-139089255, 139089283, 139089286-139089287, 139089304-139089375, 139089386-139089406, 139089436-139089453, 139089464, 139089467-139089476, 139089532, 139089554-139089589, 139090498-139090499, 139090514-139090561, 139090606-139090610, 139090618, 139090622, 139090651, 139090654, 139090666, 139090774-139090831, 139090837-139090905, 139091544, 139091569, 139091595-139091633, 139094792-139094885 |
| 721 | INPP5E | 9 | 0.35917312661499 | 1240 | 1935 | 139325454-139325461, 139325501-139325523, 139325554-139325565, 139326276-139326340, 139326360-139326416, 139326427-139326437, 139326956, 139326961-139327007, 139327414-139327463, 139327503-139327527, 139327607-139327640, 139327666-139327731, 139328489-139328497, 139328501-139328503, 139328513-139328543, 139328565-139328586, 139329192-139329219, 139329238, 139329257-139329267, 139329288, 139333060-139333085, 139333119-139333204, 139333216-139333218, 139333228-139333235, 139333246-139333356, 139333363-139333423, 139333432-139333871 |
| 722 | NOTCH1 | 9 | 0.061424100156495 | 7197 | 7668 | 139390523-139390664, 139390677-139390699, 139390716-139390836, 139390847-139390880, 139390904-139391601, 139391630-139391648, 139391670-139391737, 139391751-139391845, 139391854-139392010, 139393351-139393353, 139393361-139393392, 139393415-139393448, 139393564-139393585, 139393591-139393615, 139393618, 139393634-139393679, 139393700-139393707, 139395004-139395299, 139396200-139396252, 139396271-139396344, 139396353-139396365, 139396453-139396514, 139396540, 139396724-139396785, 139396816-139396885, 139396894-139396940, 139397642-139397645, 139397651-139397722, 139397736, 139397739-139397742, 139397758-139397762, 139399125-139399556, 139399762-139399988, 139399995-139400333, 139400979-139401091, 139401168-139401425, 139401757-139401889, 139402407-139402480, 139402494-139402591, 139402684-139402788, 139402806, 139402821-139402822, 139402826-139402827, 139403322-139403523, 139404185-139404413, 139405105-139405184, 139405198-139405257, 139405604-139405647, 139405658-139405679, 139405687-139405723, 139407473-139407586, 139407844-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410105, 139410115-139410168, 139410433-139410519, 139410526-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438547, 139438553-139438554, 139440178-139440238 |
| 723 | AGPAT2 | 9 | 0.13142174432497 | 727 | 837 | 139568204-139568227, 139568244-139568291, 139568298-139568379, 139569199-139569208, 139569216-139569226, 139569232-139569235, 139569240, 139569252, 139571037-139571040, 139571053-139571132, 139571413-139571588, 139571875-139571938, 139571969-139572008, 139581628-139581809 |
| 724 | SLC34A3 | 9 | 0.37444444444444 | 1126 | 1800 | 140126542-140126546, 140126562, 140126599-140126604, 140126607-140126613, 140127030-140127055, 140127097-140127155, 140127266, 140127291, 140127364, 140127471, 140127540-140127544, 140127661-140127681, 140127697-140127782, 140127813, 140127825-140127829, 140127831-140127840, 140127847-140127856, 140128092-140128104, 140128127-140128174, 140128315-140128386, 140128561-140128648, 140128668-140128728, 140128868-140128871, 140128879, 140128889-140128899, 140128910-140128963, 140128970-140128984, 140129059-140129070, 140129092-140129136, 140129158-140129182, 140130404-140130633, 140130646, 140130651, 140130656-140130749, 140130764-140130868 |
| 725 | EHMT1 | 9 | 0.81088016422889 | 737 | 3897 | 140513481, 140513484-140513501, 140605432-140605474, 140611078-140611634, 140622826-140622829, 140669658-140669698, 140671140, 140671244-140671245, 140672400-140672401, 140672405, 140674155, 140728801-140728809, 140728819, 140728822-140728825, 140728857, 140728936-140728937, 140728955, 140728961, 140729279-140729313, 140729379, 140729382-140729392 |
| 726 | SHOX | X | 0.43799772468714 | 494 | 879 | 591633-591909, 595353-595382, 595390-595408, 595422, 595440-595507, 595521-595561, 601740-601741, 601777-601779, 605127, 605184-605190, 605221-605259, 605354-605356, 605366, 605370-605371 |
| 727 | CSF2RA | X | 0.49272030651341 | 662 | 1305 | 1401597-1401611, 1404671-1404706, 1404710-1404711, 1404719-1404725, 1404732-1404806, 1407448, 1407511-1407514, 1407690-1407697, 1407709, 1407734-1407776, 1409295-1409298, 1409335-1409336, 1409339-1409357, 1413221-1413285, 1413306-1413354, 1414320-1414326, 1419384-1419519, 1422154-1422255, 1422816-1422876, 1422888-1422912 |
| 728 | ARSE | X | 0.97062146892655 | 52 | 1770 | 2852964, 2852967-2852968, 2873495-2873543 |
| 729 | KAL1 | X | 0.97650513950073 | 48 | 2043 | 8699979-8700026 |
| 730 | GPR143 | X | 0.99058823529412 | 12 | 1275 | 9733717, 9733722-9733723, 9733731-9733733, 9733736-9733738, 9733763-9733765 |
| 731 | MID1 | X | 0.99950099800399 | 1 | 2004 | 10450547 |
| 732 | AP1S2 | X | 0.99789029535865 | 1 | 474 | 15870562 |
| 733 | PHKA2 | X | 0.98651564185545 | 50 | 3708 | 18912343-18912390, 18924673, 18926942 |
| 734 | RPS6KA3 | X | 0.99910031488979 | 2 | 2223 | 20284685, 20284737 |
| 735 | SMS | X | 0.96548592188919 | 38 | 1101 | 21958943-21958980 |
| 736 | ARX | X | 0.88040260509177 | 202 | 1689 | 25031163-25031169, 25031419-25031447, 25031482-25031515, 25031533-25031577, 25031653, 25031655, 25031657-25031689, 25031698, 25031717-25031729, 25031768-25031773, 25031776-25031779, 25031803, 25031889-25031915 |
| 737 | DMD | X | 0.99963827093507 | 4 | 11058 | 32398717, 32490303, 32509402, 32509405 |
| 738 | RPGR | X | 0.79387106100029 | 713 | 3459 | 38144805-38144816, 38144878, 38144955-38144970, 38145051, 38145054-38145056, 38145155, 38145178-38145251, 38145267-38145781, 38145826-38145867, 38145914, 38145943-38145962, 38146010-38146017, 38146148-38146150, 38147222-38147226, 38150212-38150221, 38150229 |
| 739 | ATP6AP2 | X | 0.99810066476733 | 2 | 1053 | 40440353-40440354 |
| 740 | NYX | X | 0.75103734439834 | 360 | 1446 | 41332744-41332753, 41332764-41332766, 41332806-41332808, 41332856-41332859, 41332875-41332885, 41332947-41332968, 41332978-41332983, 41333016-41333025, 41333048, 41333097-41333121, 41333154-41333169, 41333175-41333253, 41333274-41333315, 41333344-41333377, 41333439-41333467, 41333477-41333478, 41333509-41333517, 41333546-41333556, 41333724-41333727, 41333761, 41333951-41333981, 41334059-41334065 |
| 741 | RP2 | X | 0.99905033238367 | 1 | 1053 | 46739129 |
| 742 | SYN1 | X | 0.99952785646837 | 1 | 2118 | 47433751 |
| 743 | SYP | X | 0.99469214437367 | 5 | 942 | 49048216-49048220 |
| 744 | CACNA1F | X | 0.98904617458713 | 65 | 5934 | 49061640-49061642, 49061646-49061647, 49061653-49061664, 49061700-49061701, 49062994-49062995, 49063058-49063071, 49065040, 49065737-49065740, 49065769, 49065774-49065782, 49066090, 49066103, 49066203-49066213, 49067451-49067452 |
| 745 | FOXP3 | X | 0.99768518518519 | 3 | 1296 | 49114784-49114786 |
| 746 | SMC1A | X | 0.99756888168558 | 9 | 3702 | 53410106-53410114 |
| 747 | FGD1 | X | 0.999306999307 | 2 | 2886 | 54494253-54494254 |
| 748 | AR | X | 0.97466521896489 | 70 | 2763 | 66765159-66765168, 66766353-66766412 |
| 749 | DLG3 | X | 0.99633251833741 | 9 | 2454 | 69665400-69665408 |
| 750 | MED12 | X | 0.99984695439241 | 1 | 6534 | 70361112 |
| 751 | TAF1 | X | 0.97993664202746 | 114 | 5682 | 70586165-70586228, 70586265-70586314 |
| 752 | PHKA1 | X | 0.99945533769063 | 2 | 3672 | 71915571, 71915632 |
| 753 | SLC16A2 | X | 0.99294245385451 | 13 | 1842 | 73641396-73641398, 73641402-73641407, 73641411-73641414 |
| 754 | BRWD3 | X | 0.99630245886485 | 20 | 5409 | 80064940-80064951, 80064963-80064970 |
| 755 | CHM | X | 0.99694189602446 | 6 | 1962 | 85212882-85212887 |
| 756 | PCDH19 | X | 0.99697519661222 | 10 | 3306 | 99663353, 99663571-99663576, 99663580-99663582 |
| 757 | NDUFA1 | X | 0.90610328638498 | 20 | 213 | 119005945, 119007268-119007276, 119007302-119007310, 119010478 |
| 758 | CUL4B | X | 0.98103574033552 | 52 | 2742 | 119691811-119691816, 119694061-119694084, 119694104, 119694114-119694116, 119694358, 119694368-119694378, 119694457-119694461, 119694466 |
| 759 | XIAP | X | 0.98862115127175 | 17 | 1494 | 123020086, 123025123-123025131, 123040945-123040951 |
| 760 | OCRL | X | 0.99630450849963 | 10 | 2706 | 128674422-128674425, 128674428-128674433 |
| 761 | ZIC3 | X | 0.997150997151 | 4 | 1404 | 136651115-136651118 |
| 762 | SOX3 | X | 0.73900074571216 | 350 | 1341 | 139585917, 139585920, 139585945-139585983, 139585996-139586000, 139586031-139586036, 139586043-139586073, 139586140-139586199, 139586303-139586326, 139586338-139586362, 139586436-139586447, 139586461-139586520, 139586523-139586524, 139586527-139586529, 139586560-139586575, 139586670-139586696, 139586796-139586821, 139586859-139586864, 139586975-139586976, 139587222-139587225 |
| 763 | FAM58A | X | 0.89795918367347 | 75 | 735 | 152858095-152858099, 152858103, 152860025, 152864420, 152864443-152864451, 152864462-152864480, 152864483-152864521 |
| 764 | SLC6A8 | X | 0.54140461215933 | 875 | 1908 | 152954030-152954291, 152955830-152955850, 152955891-152955893, 152956765-152956808, 152956879-152956880, 152956936-152956965, 152957497-152957525, 152957535-152957558, 152958508-152958509, 152958520, 152958546, 152958551, 152958629-152958630, 152958728-152958759, 152958797-152958821, 152958917-152958939, 152958945-152958971, 152959014, 152959385-152959403, 152959461-152959472, 152959616, 152959619-152959621, 152959632-152959655, 152959690-152959692, 152959701, 152959708-152959710, 152959799-152959813, 152959821-152959868, 152959896, 152959900-152959901, 152960000-152960020, 152960079-152960088, 152960174-152960182, 152960201-152960313, 152960337, 152960529-152960553, 152960587-152960599, 152960649-152960669 |
| 765 | ABCD1 | X | 0.59919571045576 | 897 | 2238 | 152990722-152990811, 152990828, 152990837-152990915, 152990922-152991060, 152991080, 152991084-152991085, 152991103-152991108, 152991115-152991167, 152991188-152991192, 152991201-152991218, 152991243-152991262, 152991275, 152991278-152991282, 152991294, 152991301, 152991333, 152991336-152991338, 152991341-152991343, 152991413-152991422, 152991429, 152991435, 152991445-152991491, 152991504-152991518, 152991527-152991559, 152991562, 152991617-152991621, 153001566-153001567, 153001577, 153001656-153001659, 153001681-153001683, 153001806, 153001817-153001842, 153001888-153001896, 153001938-153001962, 153002611-153002636, 153002662, 153002667, 153002672, 153005689, 153006073-153006085, 153006141, 153008473-153008497, 153008675-153008688, 153008705-153008734, 153008756-153008791, 153008943-153008949, 153008981-153008987, 153009006-153009047, 153009082-153009159, 153009181 |
| 766 | L1CAM | X | 0.94197138314785 | 219 | 3774 | 153128310-153128316, 153129003-153129004, 153129367, 153129440, 153129879-153129885, 153130103-153130105, 153130307-153130347, 153130603, 153130754-153130776, 153130790, 153130809-153130811, 153131183, 153131187, 153131195, 153131211, 153132851, 153133330, 153133806-153133808, 153134389-153134390, 153135012-153135013, 153135063-153135079, 153135114-153135118, 153135260, 153135271-153135275, 153135346, 153135511-153135533, 153135589-153135604, 153135641, 153135674, 153135845-153135847, 153135865-153135881, 153136406, 153136512-153136533, 153136608-153136609, 153137625 |
| 767 | MECP2 | X | 0.97394789579158 | 39 | 1497 | 153297866, 153363078-153363081, 153363089-153363122 |
| 768 | OPN1LW | X | 0.98264840182648 | 19 | 1095 | 153418453-153418471 |
| 769 | OPN1MW | X | 0.94885844748858 | 56 | 1095 | 153458979-153458989, 153459039-153459083 |
| 770 | OPN1MW | X | 0.95799086757991 | 46 | 1095 | 153496125, 153496157-153496201 |
| 771 | FLNA | X | 0.51334340382679 | 3866 | 7944 | 153577217-153577232, 153577289-153577334, 153577377-153577404, 153577730-153577749, 153577753, 153577775-153577783, 153577796-153577836, 153577876-153577884, 153577888, 153577923-153577928, 153578024-153578025, 153578029, 153578034-153578066, 153578200-153578234, 153578401-153578407, 153578410-153578425, 153578467, 153578557, 153579282, 153579293, 153579347-153579362, 153579973, 153579979, 153579990, 153579993-153579994, 153580034-153580041, 153580269-153580326, 153580336-153580381, 153580549-153580565, 153580587-153580618, 153580627-153580673, 153580699, 153580706-153580719, 153580722, 153580729, 153580761-153580786, 153580811-153580815, 153580936-153580982, 153580998, 153581005-153581011, 153581033-153581043, 153581140-153581163, 153581173, 153581177, 153581228, 153581239-153581292, 153581369, 153581383-153581434, 153581450-153581505, 153581527, 153581530-153581557, 153581566-153581572, 153581672-153581686, 153581689, 153581710-153581762, 153581781-153581818, 153581933-153582013, 153582021-153582028, 153582056-153582095, 153582283-153582287, 153582324-153582330, 153582348-153582390, 153582404-153582411, 153582549-153582586, 153582614-153582643, 153582648-153582659, 153582764-153582778, 153582803-153582827, 153582847-153582851, 153582984-153583079, 153583193-153583248, 153583259-153583265, 153583301-153583315, 153583334-153583440, 153585628-153585642, 153585802-153585823, 153585830-153585907, 153585914-153585918, 153585921-153585931, 153585989, 153586575-153586578, 153586583-153586656, 153586699, 153586702-153586703, 153586824-153586869, 153587366, 153587373-153587386, 153587389, 153587393, 153587400, 153587412-153587415, 153587418, 153587452, 153587455, 153587479-153587503, 153587506, 153587617-153587668, 153587686-153587689, 153587697, 153587702-153587709, 153587740-153587744, 153587749-153587756, 153587759, 153587764-153587774, 153587852-153587972, 153587985, 153587988-153587989, 153588000-153588014, 153588100-153588113, 153588120-153588165, 153588179, 153588190-153588244, 153588250, 153588264-153588273, 153588359-153588456, 153588464-153588505, 153588518-153588521, 153588560-153588656, 153588709-153588732, 153588832-153588912, 153588920, 153588930, 153588934, 153588955, 153589676-153589795, 153589809-153589842, 153589850-153589852, 153589861, 153589868, 153589878, 153589881, 153589927-153589938, 153590038-153590041, 153590067-153590080, 153590092, 153590096-153590103, 153590106-153590111, 153590142-153590155, 153590347-153590358, 153590385-153590386, 153590395, 153590398-153590399, 153590402, 153590417, 153590454, 153590466, 153590470-153590482, 153590492, 153590610-153590637, 153590644-153590685, 153590696-153590700, 153590795-153590880, 153590937-153590946, 153591038-153591063, 153591107, 153592403-153592412, 153592441-153592464, 153592525-153592533, 153592649-153592651, 153592667, 153592894-153592895, 153592939, 153592975, 153592991-153592994, 153593001-153593008, 153593191, 153593205-153593240, 153593254-153593260, 153593504-153593527, 153593577-153593605, 153593627, 153593761, 153593786-153593790, 153593800, 153593814-153593845, 153594392-153594432, 153594445-153594487, 153594528, 153594690, 153594807-153594809, 153594815-153594825, 153594930-153594944, 153595211, 153595214-153595218, 153595765-153595773, 153595819, 153595830-153595837, 153596014-153596047, 153596062-153596097, 153596210-153596255, 153596265-153596286, 153596293-153596295, 153596299, 153596305-153596308, 153596311, 153596333-153596376, 153596408, 153596413, 153596444-153596458, 153599241-153599256, 153599280-153599321, 153599333, 153599336, 153599344-153599503, 153599515-153599578, 153599597-153599613 |
| 772 | EMD | X | 0.70065359477124 | 229 | 765 | 153607863-153607867, 153607891, 153607894-153607917, 153607921-153607922, 153608050-153608103, 153608112, 153608124-153608154, 153608313-153608357, 153608711-153608727, 153609133-153609145, 153609256-153609257, 153609264-153609267, 153609354, 153609393-153609411, 153609446, 153609456, 153609465, 153609469, 153609542-153609547 |
| 773 | TAZ | X | 0.90621039290241 | 74 | 789 | 153640205-153640250, 153640289, 153640445, 153640452, 153640464-153640465, 153640484, 153640502-153640506, 153640512, 153640517-153640531, 153641556 |
| 774 | GDI1 | X | 0.97172619047619 | 38 | 1344 | 153665609, 153666880-153666882, 153667185-153667188, 153668394, 153668408-153668418, 153668422-153668434, 153669538-153669542 |
| 775 | G6PD | X | 0.91147741147741 | 145 | 1638 | 153760215-153760234, 153760264-153760291, 153760403, 153760457, 153760612, 153760646-153760677, 153760913-153760934, 153761311-153761322, 153761821, 153762268, 153762617, 153762669, 153762674, 153763545, 153775026-153775027, 153775033, 153775067-153775085 |
| 776 | IKBKG | X | 0.99726775956284 | 4 | 1464 | 153780382, 153788749-153788750, 153788753 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 3 | MBL2-G54D | homozygous | 0.104 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 2 | SP110-M579I | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-M523T | homozygous | 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: 2 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: 3 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 | PCSK9-V474I | homozygous | 0.817 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-G670E | homozygous | 0.888 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | CYP2C9-R144C | het unknown | 0.097 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.954 (probably damaging) |
| 2 | TAS2R38-I296V | homozygous | 0.463 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.984 (probably damaging) |
| 2 | TAS2R38-A49P | homozygous | 0.431 | Unknown benign | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | RNASEL-D541E | homozygous | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | RNASEL-R462Q | homozygous | 0.278 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests |
| 2 | APOB-S4338N | het unknown | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-P2739L | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-I2313V | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 1.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-A618V | homozygous | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | H6PD-R453Q | homozygous | 0.309 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 1.5 | KRT5-G138E | het unknown | 0.052 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | VSX1-G160D | het unknown | 0.002 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.011 (benign) |
| 1.5 | CILP-G1166S | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-K575E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-I395T | homozygous | 0.632 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-L14LVL | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1.5 | SFTPA1-L50V | het unknown | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | SFTPA1-R219W | het unknown | 0.085 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 1.5 | PRNP-M129V | het unknown | 0.340 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1.125 | FUT2-W154* | het unknown | 0.491 | Recessive protective | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 1.125 | FUT2-G258S | het unknown | 0.509 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.954 (probably damaging) |
| 1 | SLC26A3-C307W | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.924 (probably damaging), Testable gene in GeneTests |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | C14orf104-D768G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | KCP-H313Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PKHD1-Q4048R | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PKHD1-Q3899R | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PKHD1-L1870V | homozygous | 0.952 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PKHD1-N830S | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | NEFL-S472Shift | homozygous | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | KRTAP7-1-I61S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PLAC4-W81Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AP1S2-T35A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-R29P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-V417I | homozygous | 0.192 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | CCDC66-D5Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CCDC66-Q383R | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CCDC66-R460Q | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 1 | CCDC66-E592K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) | |
| 1 | CCDC66-S606SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-I58T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-R162S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | TRIM64-V238M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-E242V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q358R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q405R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | SEBOX-L207S | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HLA-DQA1-L8M | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A11T | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-V17M | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-D25G | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-C34Y | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-F41S | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-E63G | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-RW70CL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-EF73VL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-SK75RQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G78R | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-G79Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G84F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R87T | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M89I | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-IM98SL | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Y103S | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-T130I | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q152H | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q198K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-A222T | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M230V | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q241R | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SCN5A-H558R | homozygous | 0.246 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CLECL1-S52Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SLC22A1-R61C | het unknown | 0.057 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 1 | SLC22A1-L160F | het unknown | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SLC22A1-M408V | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SLC22A1-M420Del | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SLC22A1-G465R | het unknown | 0.019 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging) |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027052-R29H | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027052-T53Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027052-Y63N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-A832G | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SCARF2-A814G | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TP53-P72R | het unknown | 0.628 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | KCNJ11-V337I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KCNJ11-K23E | het unknown | 0.738 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-G584R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | MS4A14-Q612H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CHAT-A120T | homozygous | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | CHAT-D400N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CHAT-V461M | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | het unknown | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-M356I | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-N3T | het unknown | 0.605 | 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-V168I | het unknown | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SP100-V399Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SP100-M433V | het unknown | 0.247 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 1 | SP100-M826T | het unknown | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF880-N106Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF880-N140NN | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF880-R198S | homozygous | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF880-N202H | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF880-K471R | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HRNR-L2688S | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-C1414Y | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | HRNR-S799T | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G427D | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TJP1-D1347A | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 1 | DPYD-R29C | homozygous | 0.714 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AX746903-Q107RR | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AX746903-Q107RR | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | DGKK-L1014Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | C14orf184-E123Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CACNA1S-R1539C | homozygous | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CACNA1S-L458H | het unknown | 0.273 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CACNA1S-A69G | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | RHBG-G315R | homozygous | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | RHBG-P424Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | RHBG-H428R | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CHIT1-A442G | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 1 | CHIT1-G102S | het unknown | 0.281 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 1 | F5-M1764V | homozygous | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K925E | homozygous | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-H865R | homozygous | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K858R | homozygous | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | USH2A-I2169T | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-I2106T | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-I1665T | homozygous | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-G713R | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-A125T | homozygous | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | UNC13D-A1085Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | UNC13D-T321N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | ADD1-G460W | het unknown | 0.157 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.75 | ADD1-S617C | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | DYX1C1-E417* | het unknown | 0.201 | Unknown pathogenic | Low clinical importance, uncertain | One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive. |
| 0.75 | DYX1C1-E191G | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.249 (possibly damaging) |
| 0.75 | ALK-I1461V | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | ALK-R1248* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | ALK-V476A | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | BANK1-R61H | het unknown | 0.283 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BANK1-A383T | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.75 | BANK1-C650R | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CST3-A25T | het unknown | 0.171 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AMPD1-P48L | het unknown | 0.094 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.75 | AMPD1-Q12* | het unknown | 0.093 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 0.75 | EDN1-K198N | het unknown | 0.206 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.75 | COMT-V158M | het unknown | 0.448 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.625 | ARSA-T391S | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | ARSA-L100Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | ERCC6-Q1413R | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.625 | ERCC6-R1213G | het unknown | 0.197 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.625 | ERCC6-M1097V | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WHAMM-H736P | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 0.5 | SLC28A1-L140LV | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SLC28A1-R510C | het unknown | 0.041 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLC28A1-D521N | het unknown | 0.360 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL1A1-T1075A | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-A86V | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-C742S | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-I877L | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCR7-M7V | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.364 (possibly damaging) |
| 0.5 | CNGB1-K911R | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CNGB1-L745I | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CNGB1-G238S | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CNGB1-R100H | het unknown | 0.757 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DHX58-Q425R | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHX58-R95Q | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.296 (possibly damaging) |
| 0.5 | NPEPPS-M241T | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NPEPPS-G322D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PDE8A-L55V | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PDE8A-R368H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TAT-P15S | homozygous | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | NOB1-Y366F | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.834 (possibly damaging) |
| 0.5 | NOB1-R231Q | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | MYO15A-F1774R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO15A-T2654S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO15A-L2662V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO15A-Y2682F | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNRG-D746N | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | SYNRG-T222A | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | SYNRG-A40G | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CES1-S12A | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CES1-I7V | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CES1-F6L | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CES1-R4P | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.24 (possibly damaging) |
| 0.5 | CTNS-T260I | homozygous | 0.828 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRIP1-S919P | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DHODH-K7Q | homozygous | 0.542 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | PLCG2-R268W | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | TAF1C-R722H | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TAF1C-Q440Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TAF1C-C24Y | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NLRP1-M1184V | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NLRP1-V1059M | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | NLRP1-V939M | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | NLRP1-L155H | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.064 (benign) |
| 0.5 | MYH13-R1822W | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MYH13-D1076E | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYH13-M1071V | het unknown | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 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 | ABCC6-R1268Q | het unknown | 0.219 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-M848V | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-H632Q | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | het unknown | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GTF3C1-R1630H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SULT1A2-K282E | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SULT1A2-Y62F | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | COX10-R159Q | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SALL1-V1275I | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KLF1-S102P | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KLF1-M39L | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SCN4A-S524G | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF154-R192* | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ZNF154-L182V | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAJC5G-G27S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | EIF2B4-R326G | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EPN1-H39Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | EPN1-G523A | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | EMP3-I125V | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.878 (probably damaging) |
| 0.5 | BCKDHA-P39H | het unknown | 0.097 | 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-K640E | homozygous | 0.713 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | SIX5-AE6PK | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CARD8-V43Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CARD8-C10* | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | GCKR-L446P | homozygous | 0.679 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | C2orf71-S1225SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C2orf71-L792V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C2orf71-C688Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SLC4A5-H253Y | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests |
| 0.5 | HTRA2-A141S | het unknown | 0.017 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EIF2AK3-A704S | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EIF2AK3-Q166R | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALMS1-R392C | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-G1414A | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-I1875V | homozygous | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-I2070T | homozygous | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S2100L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S2111R | homozygous | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R2284P | homozygous | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R2826S | homozygous | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-N2856S | homozygous | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-N3304S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ATP6V1B1-T30I | homozygous | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SRD5A2-L88V | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SRD5A2-A48T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_027251-H75Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ABCG8-Y54C | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.5 | ABCG8-V632A | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FSHR-S680N | homozygous | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FSHR-A307T | homozygous | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AURKAIP1-K199R | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.935 (probably damaging) |
| 0.5 | PRODH2-R525Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.871 (probably damaging), Testable gene in GeneTests |
| 0.5 | DSG3-S771F | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | DSG3-T912A | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ATP8B1-A1152T | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTDP1-S61A | homozygous | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-P1208T | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | NPC1-R1266Q | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPC1-I858V | het unknown | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPC1-M642I | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COG1-N392S | het unknown | 0.530 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COG1-E453Q | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAI2-A558T | homozygous | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CASKIN2-R835C | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | LAMA1-L2144V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LAMA1-K2002E | homozygous | 0.657 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-A1763V | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-D1682V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.656 (possibly damaging) |
| 0.5 | LAMA1-M1340V | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | LAMA1-N674T | homozygous | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.167 (benign) |
| 0.5 | KISS1R-L364H | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF57-S56A | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | ZNF57-T223N | homozygous | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.654 (possibly damaging) |
| 0.5 | FCHO1-R186Q | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | IL12RB1-G378R | homozygous | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | IL12RB1-M365T | homozygous | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL12RB1-Q214R | homozygous | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL12RB1-R156H | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign), Testable gene in GeneTests |
| 0.5 | ZNF792-N425D | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | ZNF792-R177Q | het unknown | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GRAMD1A-R448W | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | UNC13A-A1220S | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UNC13A-A447T | homozygous | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UNC13A-A53Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | 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 | 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 | RNASEH2A-L202S | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNASEH2A-D205E | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1024-N258H | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | CCDC130-S22C | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | MLH3-S966P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | CYP1A1-I462V | het unknown | 0.027 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.488 (possibly damaging) |
| 0.5 | SLC29A3-S158F | homozygous | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-V239I | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-I326V | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CDH23-G488A | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.739 | 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 | USP54-G1514A | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | LRIT2-T510P | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRIT2-V496A | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRIT2-L220F | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | LRIT2-K179N | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.827 (possibly damaging) |
| 0.5 | ZNF248-K218E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PTCHD3-*768Q | homozygous | 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 | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | homozygous | 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 | 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 | ADARB2-A626T | homozygous | 0.559 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | ADARB2-A44T | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ECHDC3-A69T | homozygous | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ECHDC3-A151T | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ECHDC3-D162N | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CUBN-N3552K | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-S2717W | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-G1264S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CUBN-P389T | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RGR-S245F | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CYP2C8-K399R | het unknown | 0.087 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CYP2C8-R139K | het unknown | 0.087 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 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 | homozygous | 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 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | F2-T165M | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROM1-G118A | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | MICAL2-L1106P | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SBF2-E679K | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-D1370G | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | homozygous | 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BAG3-R71Q | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BAG3-C151R | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TACC2-E719D | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | TACC2-W1103R | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 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 | homozygous | 0.254 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IFITM3-H3Q | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.804 (possibly damaging) |
| 0.5 | ACADSB-R13K | homozygous | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
| 0.5 | AGT-M268T | homozygous | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LBR-S154N | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RSPO1-K162Q | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | COL9A2-L335V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LEPRE1-M549I | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PTPRF-H1730Q | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | GJA4-R132C | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | GJA4-P319S | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEPN1-C108Y | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPN1-N467K | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX10-T274A | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.221 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX10-L113P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | MTHFR-E429A | het unknown | 0.255 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 0.5 | MTHFR-A222V | het unknown | 0.272 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 0.5 | TNFRSF1B-M196R | homozygous | 0.232 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | LDLRAP1-S202P | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CLCNKB-R27L | homozygous | 0.523 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A214G | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A287V | homozygous | 0.811 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-M562T | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | POMGNT1-M623V | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ACOT11-R20H | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.938 (probably damaging) |
| 0.5 | NGF-A35V | homozygous | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
| 0.5 | ZNF687-G259E | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF687-G636S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | PGLYRP4-G192V | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PGLYRP4-Q92R | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.719 (possibly damaging) |
| 0.5 | PGLYRP4-I13L | homozygous | 0.809 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ASPM-L3132R | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-L2647I | homozygous | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | homozygous | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBA-K144R | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBA-R140W | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTPN22-W620R | homozygous | 0.934 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GSTM1-S210T | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALG6-Y131H | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | GFI1-S36N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | AGL-P1067S | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-S1547P | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-P1335L | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DBT-S384G | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TM7SF2-A119V | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TM7SF2-T299I | homozygous | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GSTP1-I105V | homozygous | 0.360 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GSTP1-A114V | het unknown | 0.062 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.018 (benign) |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-C1457Y | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | GLI2-A1156S | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-D1306N | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-ML1444IF | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TSHR-P52T | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TSHR-E727D | homozygous | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-R184C | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE2-M1969T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PTGER2-C83G | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | REM2-R79W | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | MYH6-A1130T | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JPH4-A502Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PAX9-A240P | homozygous | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK2-R521H | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPATA7-D2N | homozygous | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRPM1-H1498Q | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TRPM1-E1375* | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | TRPM1-M1T | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | VPS13C-D3715Y | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | VPS13C-S2913N | homozygous | 0.523 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VPS13C-V2322M | homozygous | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VPS13C-I1495V | homozygous | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | VPS13C-Y1302C | homozygous | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VPS13C-R974K | homozygous | 0.670 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AAGAB-V139I | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | HEXA-I436V | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRPM7-T1482I | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
| 0.5 | TRPM7-I75V | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | USP8-D443G | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.916 (probably damaging) |
| 0.5 | ZFYVE19-R48Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZFYVE19-S376A | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DUOX2-S1067L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P138L | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATP8B4-H452N | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATP8B4-N225S | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATP8B4-R13Q | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (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 | RPGRIP1-K192E | homozygous | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-A547S | homozygous | 0.232 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-E1033Q | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-H2562R | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-I2486M | het unknown | 0.287 | 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-R1772Q | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-C1468Y | homozygous | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S1195P | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1155Q | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1055C | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-M1808I | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-G2705R | het unknown | 0.046 | Unknown benign | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T1381A | homozygous | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-V471I | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-N318K | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-R50H | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-N2081D | het unknown | 0.014 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-T9S | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SNX19-L878R | homozygous | 0.809 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-P480L | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | SNX19-S407G | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-D396E | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-G381S | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SNX19-V361L | homozygous | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ST14-R85H | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | IGHMBP2-L201S | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO7A-S1666C | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L1954I | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-V1956I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TYR-S192Y | het unknown | 0.271 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BCL9L-L1232Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | BCL9L-R1231Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ATM-N1983S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | KIAA0748-R19H | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | CENPJ-M21V | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | B3GALTL-E370K | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC25A15-I254L | homozygous | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | SUCLA2-S199T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PARP4-I1564T | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-L1550P | homozygous | 0.929 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-S1459Y | homozygous | 0.929 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-S1394A | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-R1108C | homozygous | 0.861 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-L1080R | homozygous | 0.929 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-V1065A | homozygous | 0.559 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-M936T | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-A899T | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-I81V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SACS-N232K | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO1A-V306M | het unknown | 0.006 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LYZ-T88N | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests |
| 0.5 | HPD-T33A | homozygous | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SGCG-N287S | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SCARB1-G2S | het unknown | 0.081 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.937 (probably damaging) |
| 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-G1375S | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | HTT-Y2309H | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-V2786I | het unknown | 0.216 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFP57-D368V | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MDC1-D1855E | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.5 | MDC1-V1791E | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.034 (benign) |
| 0.5 | MDC1-P1745R | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | MDC1-R1299Q | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MDC1-P1283T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.766 (possibly damaging) |
| 0.5 | MDC1-L1207P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MDC1-S1112F | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | MDC1-P1100A | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.854 (probably damaging) |
| 0.5 | MDC1-R179C | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MICA-A47T | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MICA-Y59C | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-L145V | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-V152M | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-H179L | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MICA-E196K | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-G198S | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-T204R | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-S229G | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-R233W | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MICA-I236T | homozygous | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-T238S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-R274Q | homozygous | 0.478 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 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-H1161R | homozygous | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF204P-K6Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NHLRC1-P111L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GABRG2-I215V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CFC1-W78R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | F12-A207P | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-V235I | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S214N | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-R199H | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A172T | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157A | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157S | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-V148I | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G77E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQB1-A70V | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-Y62H | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-L58G | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-L58G | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-M46L | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G45A | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-F41Y | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S27T | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-M24I | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-V15A | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-D12G | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A6S | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-E276K | homozygous | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-G656D | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-D26A | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-L24S | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A16-V252A | homozygous | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.609 (possibly damaging) |
| 0.5 | SLC22A16-H49R | homozygous | 0.271 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | REV3L-V3064I | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.417 (possibly damaging) |
| 0.5 | REV3L-T1224I | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | REV3L-S1220L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.201 (possibly damaging) |
| 0.5 | RSPH4A-T149S | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-L589P | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EFHC1-R182H | het unknown | 0.044 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.038 (benign), Testable gene in GeneTests |
| 0.5 | EFHC1-I619L | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.5 | TCTE1-E157A | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | TCTE1-P35L | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.408 (possibly damaging) |
| 0.5 | TULP1-K261N | homozygous | 0.844 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-I259T | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLPS-R55H | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PRPH2-D338G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-R310K | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-Q304E | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CAPN11-L142P | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CAPN11-V266M | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
| 0.5 | CUL7-Q813R | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GM2A-A19T | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GM2A-I59V | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GM2A-M69V | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFI-T300A | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR3C2-V180I | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AGA-T149S | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AGA-V12L | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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-T4220A | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.959 (probably damaging), 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-Q2463R | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I766L | het unknown | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EVC-Y258H | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | WFS1-V333I | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFS1-R611H | homozygous | 0.400 | Recessive not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | N4BP2-D611N | het unknown | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | N4BP2-G1737R | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GPRIN3-V446A | het unknown | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GPRIN3-P390S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | GPRIN3-L39V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | IL7R-I66T | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-V138I | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-I356V | het unknown | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | LECT2-G63E | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | LECT2-I58V | homozygous | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CDC25C-G297R | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | NR3C1-N363S | het unknown | 0.022 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SPINK5-D106N | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-D386N | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-H1002R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_027127-W61* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | EPB41L4A-R630H | het unknown | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EPB41L4A-R587L | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | GHR-I544L | homozygous | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | HEXB-L62S | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXB-K121R | het unknown | 0.199 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AP3B1-V585E | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-I1647V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GPR98-E5344G | homozygous | 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 | ARSB-S384N | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.171 (benign), Testable gene in GeneTests |
| 0.5 | ARSB-V358M | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.117 (benign), Testable gene in GeneTests |
| 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-T8687I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (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 | homozygous | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S4596T | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | homozygous | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOL8-K165R | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | BAAT-R20Q | homozygous | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.5 | ABCA1-K1587R | homozygous | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-V771M | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-R219K | het unknown | 0.393 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SVEP1-A2750V | homozygous | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SVEP1-D2702G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SVEP1-L1648V | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SVEP1-M1444L | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SVEP1-I1157V | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | SVEP1-Q581H | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | EXOSC3-Y225H | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.923 (probably damaging) |
| 0.5 | AQP7-G264V | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TG-S734A | het unknown | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | het unknown | 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: 2 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-R1999W | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IFNA16-D95H | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.726 (possibly damaging) |
| 0.5 | IFNA16-V65E | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | IFNA17-H57Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | IFNA1-V10A | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | IFNA1-A163G | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUSK-S159G | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUSK-M413I | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-N796K | het unknown | 0.181 | 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-P562A | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-A440T | het unknown | 0.182 | 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 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H2BFWT-R123H | homozygous | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | H2BFWT-R87W | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | UTP14A-N753H | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | OPN1LW-S180A | homozygous | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IGBP1-I203T | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC35A2-S354SSS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SLC35A2-P15T | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | CDK5RAP2-V1540L | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-R1045T | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-G1022E | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-Q1938H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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 | MOSPD2-S240N | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.902 (probably damaging) |
| 0.5 | HDAC6-R832H | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DMD-R2937Q | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-K2366Q | het unknown | 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-R1745H | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VPS13B-A829T | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VPS13B-G3407R | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | GLI3-P998L | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI3-T183A | homozygous | 0.666 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DDC-M17V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MDH2-K301R | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ABCB1-S893A | homozygous | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TXNDC3-C208R | het unknown | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-I493T | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HOXA1-H146N | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HOXA1-R73H | homozygous | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FNDC1-P122S | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | FNDC1-T438A | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC1-E463Q | het unknown | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | FNDC1-Q1003E | het unknown | 0.854 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | FNDC1-L1261P | het unknown | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.38 (possibly damaging) |
| 0.5 | FNDC1-Q1280R | het unknown | 0.853 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | FNDC1-T1504K | het unknown | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A2-S270A | homozygous | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | DNAH11-E34L | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-Q639R | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-S654C | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-M4172V | het unknown | 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-K4508R | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EIF2AK1-K558R | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | COL1A2-P549A | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP3A7-R409T | homozygous | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MCPH1-R171S | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASAH1-V246A | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-I93V | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-V72M | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NAT2-R197Q | het unknown | 0.282 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NAT2-R268K | homozygous | 0.581 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZFHX4-P1228S | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.679 (possibly damaging) |
| 0.5 | ZFHX4-P2424L | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.946 (probably damaging) |
| 0.5 | MLL3-S3588L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MLL3-G845E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) | |
| 0.5 | MLL3-N729D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLL3-L687F | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | MLL3-L291F | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | TMEM176A-R109W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TMEM176A-T122A | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMEM176A-L187F | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | TMEM176A-T208A | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ZCWPW1-T153A | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SERPINE1-A15T | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | CFTR-R75Q | het unknown | 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRSS1-S181N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PRSS1-M183V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | SEC23B-V426I | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SEC23B-P433L | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.686 (possibly damaging) |
| 0.5 | SEC23B-H489Q | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | COL18A1-V144I | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL18A1-A288T | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.017 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-T539I | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-G704E | het unknown | 0.894 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-T879A | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PCNT-R1163C | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | PCNT-I1639V | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-P2274L | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-Q2659H | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PCNT-Q2792R | homozygous | 0.693 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-S3091G | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.312 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PCNT-R3245S | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests |
| 0.5 | GGT1-G84S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | ITGB2-Q354H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ITGB2-R285C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TTC3-M840T | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TTC3-R924H | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | TTC3-D1751H | het unknown | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SALL4-L507R | het unknown | 0.281 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A14-L238Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC22A14-V284M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A14-S292G | homozygous | 0.873 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A14-P560R | het unknown | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KCNE1-S38G | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FOXL2-GPAASYGPYT250DPAASFGPYP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FOXL2-A179G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TF-G277S | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TF-I448V | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GBE1-I334V | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-R190G | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | XPC-Q939K | homozygous | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XPC-A499V | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TBC1D5-I696V | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TBC1D5-L95F | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CIDEC-T49M | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | SCO2-R20P | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KIAA1671-K439R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.872 (probably damaging) | |
| 0.5 | CASR-A986S | het unknown | 0.109 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC5A1-N51S | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.043 (benign), Testable gene in GeneTests |
| 0.5 | SLC5A1-A411T | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC5A1-H615Q | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HGD-Q80H | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCK1-V184L | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK1-E276K | homozygous | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CASP8-K14R | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TTN-R32018H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R29962H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-I26820T | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R25715C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-I25199V | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T24045M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R22371C | het unknown | Unknown | 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-V19783I | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T18827I | het unknown | 0.312 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-P17286L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R16903H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-N16125D | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I9278V | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PANK2-G126A | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | LRP2-I4210L | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LRP2-K4094E | homozygous | 0.799 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRP2-A2872T | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SCN1A-A1056T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCT-N1639S | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-I362V | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | MCCC1-H464P | homozygous | 0.584 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NEB-I6534V | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-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-H1991Y | 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-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: 3 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SSFA2-P836L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | COL4A3-P116T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL4A3-L141P | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-D326Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALPP-E37Q | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ALPP-I89L | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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-T1368M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | C20orf54-I303V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C20orf54-T278M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C20orf54-P267L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | COL4A4-S1400P | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | homozygous | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R1767Q | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | homozygous | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA12-S777T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPO-M85I | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests |
| 0.5 | CPO-S134R | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | FREM2-S745P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | FREM2-F1070S | het unknown | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | FREM2-R1344H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | TRIOBP-P89A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | TRIOBP-S217N | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.375 | TRIOBP-H1300R | het unknown | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.375 | TRIOBP-E1372D | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.375 | TRIOBP-W1377R | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.375 | OTOF-D736A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | OTOF-R82C | het unknown | 0.365 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | NLRP7-A481T | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.375 | NLRP7-V319I | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.375 | NLRP7-QL310RI | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | AIM1-E1196A | het unknown | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.375 | AIM1-W1545* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.375 | HNF1A-T354M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | HNF1A-S487N | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | CPN2-Q509R | het unknown | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | CPN2-Q509R | het unknown | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | CPN2-A252V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | ACAT1-A5P | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests |
| 0.375 | ACAT1-R258C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | SEMA3F-A370Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SEMA3F-L503M | homozygous | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CHRNA2-T125A | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RP1-N985Y | het unknown | 0.349 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 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: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.25 | JUP-M697L | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C10orf113-D100H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-R62G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-S22Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MYO3A-R319H | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-I348V | het unknown | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-V369I | het unknown | 0.661 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-S956N | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-T1284S | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | MYO3A-R1313S | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RET-G691S | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AK298931-E88Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AK298931-W38* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | AK298931-T4S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf68-I39V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf68-N226Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C10orf68-G388A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf68-M510T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf68-V607I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NQO1-P187S | het unknown | 0.197 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.215 (possibly damaging) |
| 0.25 | SLC4A3-H157P | het unknown | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | SLC4A3-H157P | het unknown | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | SLC4A3-D867A | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR2T4-C60S | homozygous | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.066 (benign) |
| 0.25 | OR2T4-A104V | homozygous | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR2T4-F135L | homozygous | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | OR2T4-V137L | homozygous | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR2T4-M150Shift | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | OR2T4-M168Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | OR2T4-G259R | homozygous | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR2T4-P300S | homozygous | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.067 (benign) |
| 0.25 | TMEM67-I604V | het unknown | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TPO-A257S | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TPO-A373S | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | TPO-S398T | het unknown | 0.785 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.25 | TPO-T725P | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LAMB3-M852L | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MANBA-T701M | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MANBA-V253I | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | OBSCN-Q502R | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.25 | OBSCN-A908T | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | OBSCN-V1508D | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.25 | OBSCN-A1532V | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | OBSCN-E1595D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | OBSCN-D2106E | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.25 | OBSCN-H4381R | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.99 (probably damaging) |
| 0.25 | OBSCN-C4450R | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.907 (probably damaging) |
| 0.25 | OBSCN-S4642C | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.058 (benign) |
| 0.25 | OBSCN-I5335Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NBN-E185Q | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMN2-Q216E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FMN2-P912Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HEATR1-E2017G | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.181 (benign) |
| 0.25 | HEATR1-N1967D | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.05 (benign) |
| 0.25 | HEATR1-V1854A | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HEATR1-N1694S | homozygous | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HEATR1-S1559N | het unknown | 0.135 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HEATR1-A1430V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | HEATR1-M607V | het unknown | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
| 0.25 | HEATR1-G570R | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | HEATR1-H348R | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CNGB3-T298P | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CNGB3-C234W | het unknown | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IRF2BP2-A254V | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | IRF2BP2-T201Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | GATA4-S377G | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | C17orf57-V312I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C17orf57-Y546* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | SH2B1-T484A | het unknown | 0.343 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | THBD-A473V | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SCD-M224L | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CALHM1-L86P | het unknown | 0.798 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DLL3-L218P | het unknown | 0.593 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PRX-G1132R | het unknown | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AKAP9-Q2975Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.25 | AKAP9-P2979S | het unknown | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TLR3-L412F | het unknown | 0.213 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | PLCE1-R1575P | het unknown | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-T1777I | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-H1927R | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | LIPA-T16P | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | FPR1-E346A | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-N192K | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-V101L | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-I11T | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BBS2-I123V | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BBS2-S70N | homozygous | 0.994 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCDH15-R934Q | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CETP-V422I | het unknown | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GFM1-N43D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | GFM1-V215I | het unknown | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | BRCA1-S1533I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | BRCA1-Q356R | het unknown | 0.046 | Unknown benign | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BMPR1A-P2T | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD19-L174V | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP6V0A4-V2A | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ANXA11-R230C | het unknown | 0.341 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | ZC3H3-P554Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZC3H3-LPPRTGVA235PPPRTGVG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | EEF1D-D189E | homozygous | 0.930 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EEF1D-L142* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | AIPL1-D90H | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLR6-S249P | het unknown | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MOGS-P293S | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MOGS-D239N | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NSUN4-A32Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NSUN4-T51A | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.057 (benign) |
| 0.25 | CYP4B1-R173W | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP4B1-D295Shift | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | CYP4B1-M332I | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP4B1-R341C | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP4B1-R376C | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NEUROD1-P197H | het unknown | 0.020 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | NEUROD1-T45A | het unknown | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LEPR-K109R | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.25 | LEPR-Q223R | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.25 | SLC2A2-T110I | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | GUCY2D-L782H | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC16A2-S107P | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAP7D3-Q628R | homozygous | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.365 (possibly damaging) |
| 0.25 | MAP7D3-E502A | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MAP7D3-Q308Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MAGEA4-V40Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MAGEA4-A173T | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PLXNB3-P682G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PLXNB3-A921Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PLXNB3-L952G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | OPA1-S158N | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MERTK-S118N | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MERTK-R466K | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MERTK-I518V | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | XIAP-Q423P | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLCN2-T668S | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SULT1C4-D5E | het unknown | 0.429 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HTR2C-C23S | het unknown | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | PINK1-N521T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC3A1-M618I | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | GSG2-V378A | het unknown | 0.579 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GSG2-V473Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | LHX4-N328S | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FMO2-D36G | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMO2-S195L | het unknown | 0.384 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ATIC-T116S | het unknown | 0.248 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | FCGR3A-F212V | het unknown | 0.285 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DOCK8-A22V | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.25 | DOCK8-P97T | het unknown | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.25 | NCF2-K181R | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CFHR1-H157Y | het unknown | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-L159V | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-E175Q | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFH-H402Y | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFH-E936D | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PRG4-R180W | het unknown | 0.299 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | PRG4-T604A | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRG4-C746S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HMCN1-I2418T | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HMCN1-E2893G | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.25 | KRT14-A94T | het unknown | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-C63Y | het unknown | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRTAP3-2-R27C | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | ALS2-V368M | het unknown | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCA-G809D | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCA-T266A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-P1158L | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-C1072S | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CNGA1-D187N | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CTLA4-T17A | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | ROR2-V819I | het unknown | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ROR2-T245A | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPS1-T344A | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPS1-T1406N | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DNAI1-V335I | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | UGT2B7-Y268H | het unknown | 0.207 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NOTCH2-P210L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERV3-N566S | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ERV3-N478S | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ERV3-R220* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ERV3-C189Y | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ERV3-T87I | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | LIG4-T9I | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.966 (probably damaging) |
| 0.25 | ATP7B-V1140A | het unknown | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-R952K | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-K832R | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-V456L | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-S406A | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TNFRSF11A-H141Y | het unknown | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests |
| 0.25 | TNFRSF11A-A192V | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LMAN1-V39A | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RNF39-A304E | het unknown | 0.173 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF39-A245T | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RNF39-S203P | het unknown | 0.176 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FECH-R102Q | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ALDH5A1-H180Y | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | RAX-D44E | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HTR2A-H452Y | het unknown | 0.109 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.489 (possibly damaging) |
| 0.25 | HSPA1L-E602K | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | HSPA1L-T493M | het unknown | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | AXIN2-P50S | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RNH1-P170L | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.881 (probably damaging) |
| 0.25 | RNH1-C159P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RNH1-LE149RK | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ACADS-G209S | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.25 | STXBP2-I526V | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SUMF1-S63N | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.25 | APC-V1822D | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TPRXL-S70Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TPRXL-P69S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MYH15-T1125A | het unknown | 0.242 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.25 | MYH15-H504Y | het unknown | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.25 | C3-P314L | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COCH-T352S | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | 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 |
| 0.25 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCDHB10-T213R | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.885 (probably damaging) |
| 0.25 | PCDHB10-R543S | het unknown | 0.441 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ACOX1-I312M | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RPAP1-Q825E | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RPAP1-R582G | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | GANC-L11V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GANC-Q44R | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GANC-S234Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SLC28A2-P22L | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A2-S75R | het unknown | 0.497 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TSEN54-K347N | het unknown | 0.535 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TSEN54-A437V | het unknown | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPG11-F463S | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MST1-S565G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MST1-R434Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MST1-T294S | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.17 (benign) |
| 0.25 | MST1-E202V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MST1-V121I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | JAG2-YD652SA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | JAG2-F482P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | JAG2-E463K | homozygous | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | JAG2-R212* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | SERPINA1-E400D | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | IL13-Q144R | het unknown | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | FGFR4-P136L | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FGFR4-G388R | het unknown | 0.241 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging) |
| 0.25 | SLC22A4-I306T | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SLC22A4-L503F | het unknown | 0.304 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 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 |
| 0.25 | FAM161B-V644Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FAM161B-K487R | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.246 (possibly damaging) |
| 0.25 | GAA-H199R | het unknown | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-R223H | het unknown | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-V780I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SH3TC2-A468S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TCOF1-A1353V | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C5orf20-R117* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C5orf20-N97D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C5orf20-T75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | 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 | USH1C-E819D | het unknown | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CBR3-C4Y | het unknown | 0.368 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | PARK2-V380L | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABAT-Q56R | het unknown | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC7A9-V142A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SOD2-V16A | het unknown | 0.476 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AK126213-M228Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AK126213-R224M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AMACR-E277K | het unknown | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-V9M | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ICAM1-K469E | het unknown | 0.349 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ALG1-D429E | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCNXL3-Q258R | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PCNXL3-Q1741* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TXNDC11-Q840* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TXNDC11-V756L | het unknown | 0.506 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BBS9-A455T | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BDNF-V148M | het unknown | 0.138 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NPHS1-E117K | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | GARS-P42A | het unknown | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MADD-V751M | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NM_014727-R343K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NM_014727-Q1489* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | NM_014727-K1496S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NM_014727-D2361G | homozygous | 0.576 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NM_014727-P2363H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ABCC8-A1369S | het unknown | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MTRR-S202L | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MTRR-K377R | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MTRR-H622Y | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPING1-V480M | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | EYA4-G277S | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCM2-V120I | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PFKM-R100Q | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.25 | COL9A1-S339P | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-G355R | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-V94I | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-W38R | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CELA1-Q243R | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-R44W | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-Q10H | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.463 (possibly damaging) |
| 0.25 | CELA1-Y5P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CELA1-V3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KRT83-H493Y | het unknown | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT83-I279M | het unknown | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT83-R149C | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MUT-I671V | het unknown | 0.608 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-R532H | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-R337Q | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | EYS-R2326Q | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-L1873V | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-S1517G | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-R1515W | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-I1451T | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-L1419S | homozygous | 0.759 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-I1361V | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-Q1325E | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-I1263V | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-L852P | het unknown | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-G631S | homozygous | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-T120M | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | PNPLA3-G115C | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PNPLA3-I148M | het unknown | 0.196 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | PNPLA3-K434E | het unknown | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GYS2-M363V | het unknown | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TBX4-G6A | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HPS4-Q620H | het unknown | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-H601Y | het unknown | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-E224G | het unknown | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CAPN12-V704Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CAPN12-G210A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ITGA2-E534K | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FIG4-V654A | het unknown | 0.331 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLCO1B3-S112A | het unknown | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B3-M233I | het unknown | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.25 | CDKN1B-V109G | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.25 | TAS2R10-L292Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TAS2R10-T156M | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BBS4-I354T | het unknown | 0.529 | Unknown not reviewed | 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: 3 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 0 | TREX1-T104Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | VHL-C77Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | SIAE-M89V | het unknown | 0.040 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0 | HFE-H63D | het unknown | 0.110 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0 | LMX1B-L23Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,717,647,183 bases (95.9% of callable positions, 89.9% of total positions)
Coding region coverage: 31,126,420 bases (93.7% of all genes, 94.5% 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