Variant report for hu0D879F
- Data source: CGI sample GS00253-DNA_G01_200_37
- This report: evidence.pgp-hms.org/genomes?74fc03b8ae8f6bedb125183455fff06a0f9dc4a4
- Person ID: hu0D879F
- public profile: my.pgp-hms.org/profile/hu0D879F
- Download: source data, dbSNP and nsSNP report (115 MB)
- Processing status: processing
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | PEX2-W250R | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.00799405 | Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause severe disorders involving defects in peroxisomes. | 1 |
| 2 | ABCG8-R543S | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.000185908 | This variant is predicted to cause sitosterolemia (inability to break down plant sterols) in a recessive manner, although this finding lacked statistical significance. Sitosterolemia may be underdiagnosed as it has symptoms similar to hypercholesterolemia and hyperlipidemia. | 1 |
| 3 | LPL-N318S | Moderate | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.0134783 | Also called N291S, this variant has been associated with high hypertriglyceridemia. According to data from Wright et al., carriers of this variant may be two to three times more likely to have very high triglyceride levels, although it is unknown what effect this may have on coronary heart disease. | 1 |
| 4 | TGM1-A700P | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.00806452 | Unreported, predicted to be damaging. Other recessive missense mutations in this gene are reported to cause ichthyosis. | 1 |
| 5 | PPARG-P12A | Moderate | Uncertain | Uncertain not reviewed Unknown, Heterozygous | 0.0886782 | 1 | |
| 6 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Homozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
| 7 | rs5186 | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.214878 | This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs. | 1 |
| 8 | 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 |
| 9 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.451199 | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. | 1 |
| 10 | PKP2-S140F | Low | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.00241681 | Implicated as causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in a dominant manner. However, it fails to segregate with disease in studied families and has also been seen in controls. It is unclear whether there is any significant enrichment for this variant in patients -- even if so, we estimate the increased risk of ARVD for a carrier of this variant to be quite low (less than .1%). | 1 |
| 11 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.273471 | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). | 1 |
| 12 | TGIF1-P83Shift | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.138889 | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. | 1 |
| 13 | PAH-V245A | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.000650678 | This variant was found in combination with some other PAH variants in a few Danish cases of hyperphenylalaninemia. The mildly elevated phenylalanine levels of these cases are generally considered benign, dietary intervention is not usually recommended. | 1 |
| 14 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 15 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 16 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.308886 | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). | 1 |
| 17 | BRCA2-N372H | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.23656 | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. | 1 |
| 18 | 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 |
| 19 | DPYD-M166V | High | Likely | Likely pharmacogenetic Unknown, Heterozygous | 0.0778955 | Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. | 1 |
| 20 | TPMT-Y240C | Low | Well-established | Well-established pharmacogenetic Complex/Other, Homozygous | 0.0461825 | Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. | 1 |
| 21 | TPMT-A154T | Low | Likely | Likely pharmacogenetic Recessive, Homozygous | 0.0280774 | Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. | 1 |
| 22 | 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 |
| 23 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Homozygous | 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 |
| 24 | PCSK9-R46L | Moderate | Likely | Likely protective Unknown, Heterozygous | 0.0101389 | This variant is reported to have a dominant protective effect against coronary heart disease. Carriers of this variant have about half the risk of coronary heart disease compared to non-carriers (6.3% risk in carriers vs. 11.8% risk in non-carriers). | 1 |
| 25 | CCR5-S185Shift | Low | Well-established | Well-established protective Recessive, Homozygous | 0.047619 | Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains. | 1 |
| 26 | 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 |
| 27 | CASP10-V410I | Low | Likely | Likely protective Dominant, Heterozygous | 0.0474066 | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). | 1 |
| 28 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.295687 | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). | 1 |
| 29 | CFH-V62I | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.391616 | Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk. | 1 |
| 30 | 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 |
| 31 | FLT4-N149D | Low | Likely | Likely benign Unknown, Heterozygous | 0.0725056 | Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect. | 1 |
| 32 | PMS2-P470S | Low | Likely | Likely benign Unknown, Heterozygous | 0.374884 | Benign, common variant. | 1 |
| 33 | 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 |
| 34 | 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 |
| 35 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.232202 | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. | 1 |
| 36 | PKD1-G3300R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 9.6283e-05 | Rare, tentatively classified as benign. Other variants in this gene are reported to cause polycystic kidney disease in a dominant manner, but these were more severe null mutations (nonsense or frameshift). In addition, this was seen in a PGP participant who has not reported a family history of the disease. | 1 |
| 37 | ERCC6-R1230P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0695297 | Probably benign. | 1 |
| 38 | FMO3-V257M | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0570738 | This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism. | 1 |
| 39 | FANCA-S1088F | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0584681 | Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic. | 1 |
| 40 | AMPD1-P48L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0940695 | Probably benign, ancestral to15173240 pathogenic Q12X mutation. | 1 |
| 41 | ELN-G581R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.072876 | Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data). | 1 |
| 42 | POLG2-G416A | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0119025 | Rare but presumed benign. It was believed to be non-causal in a patient with a different mutation, and functional analysis found no difference from wild type. | 1 |
| 43 | 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 |
| 44 | 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 |
| 45 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
| 46 | NOTCH3-H1133Q | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0131995 | Probably benign. | 1 |
| 47 | ATM-S707P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00818148 | Probably not pathogenic, several papers conclude it is not associated with breast cancer. | 1 |
| 48 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 49 | MLH3-E624Q | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00817996 | Probably benign, follow-up studies have failed to support any link with colorectal cancer and the protein function is identical to wildtype. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 31971823 / 33282720 = 96.06%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.81524926686217 | 1134 | 6138 | 955553-955753, 976045-976056, 976069-976129, 976146-976148, 976158, 976174-976176, 976202-976205, 976211-976260, 976553-976674, 976687-976750, 976766-976777, 976858-976892, 976907-976933, 977049, 977067-977070, 977081-977082, 977511-977512, 977515-977516, 977522-977525, 978692, 978718-978721, 978724, 978738, 979028, 979044, 979046-979050, 979057-979067, 979076-979077, 981788, 981791, 981837-981872, 981885-981901, 981931-981937, 981946-981956, 981959-981966, 981968-981970, 981978-981989, 981995-981998, 982015-982037, 982225-982226, 983406, 983414-983416, 983422-983428, 983443, 983452-983454, 983456-983463, 983472-983474, 983493-983495, 983510-983516, 983522-983528, 983539-983557, 983568, 983571-983577, 983584-983745, 984339-984345, 984358-984360, 984648, 984662, 984704, 984711, 985169-985172, 985359-985362, 985366, 985369-985374, 985399-985402, 985621-985623, 985627-985631, 985653, 985657, 985685-985687, 985690, 986193-986217, 986664-986708, 986726-986736, 986833-986834, 986847-986853, 986887-986889 |
| 2 | GABRD | 1 | 0.94481236203091 | 75 | 1359 | 1950863-1950930, 1957045-1957051 |
| 3 | PEX10 | 1 | 0.83995922528033 | 157 | 981 | 2337923-2337937, 2337942, 2338257, 2340001-2340036, 2340039, 2343839-2343941 |
| 4 | NPHP4 | 1 | 0.99672973604298 | 14 | 4281 | 5923975-5923977, 5925251, 5927124, 5935153-5935159, 5950963-5950964 |
| 5 | ESPN | 1 | 0.62144249512671 | 971 | 2565 | 6485016-6485287, 6488301-6488346, 6488378-6488392, 6500366-6500369, 6500452-6500454, 6500457, 6500460-6500472, 6500476-6500479, 6500686-6500868, 6505837-6505864, 6505879-6505920, 6505931-6505937, 6508701-6508705, 6508726-6508766, 6508791-6509059, 6509071-6509107, 6520080 |
| 6 | PLEKHG5 | 1 | 0.89118846033239 | 347 | 3189 | 6528248-6528250, 6529183-6529185, 6530354, 6530797-6530835, 6530866-6530868, 6530879-6530882, 6531095, 6534073-6534224, 6534511-6534647, 6557380-6557383 |
| 7 | KIF1B | 1 | 0.99755317146621 | 13 | 5313 | 10425549-10425557, 10425584-10425587 |
| 8 | PEX14 | 1 | 0.99559082892416 | 5 | 1134 | 10684422-10684425, 10689687 |
| 9 | TARDBP | 1 | 0.98875502008032 | 14 | 1245 | 11082356-11082362, 11082599-11082605 |
| 10 | MASP2 | 1 | 0.99951479864144 | 1 | 2061 | 11103546 |
| 11 | MTHFR | 1 | 0.99340436326738 | 13 | 1971 | 11853986-11853988, 11854083-11854085, 11854091-11854092, 11854095-11854098, 11855401 |
| 12 | PLOD1 | 1 | 0.98489010989011 | 33 | 2184 | 11994837-11994861, 11994868-11994875 |
| 13 | CTRC | 1 | 0.99876084262701 | 1 | 807 | 15771131 |
| 14 | CLCNKA | 1 | 0.96947674418605 | 63 | 2064 | 16353048-16353094, 16353253-16353257, 16357009, 16358750, 16358950-16358951, 16360141-16360147 |
| 15 | CLCNKB | 1 | 0.98546511627907 | 30 | 2064 | 16378851-16378857, 16382966-16382980, 16383399-16383406 |
| 16 | ATP13A2 | 1 | 0.97939599209709 | 73 | 3543 | 17313319-17313338, 17313343, 17313587, 17313591-17313617, 17313639-17313645, 17313654, 17313680, 17313683, 17318587-17318597, 17326741-17326743 |
| 17 | PINK1 | 1 | 0.77835051546392 | 387 | 1746 | 20960042-20960428 |
| 18 | ALPL | 1 | 0.99936507936508 | 1 | 1575 | 21904079 |
| 19 | HSPG2 | 1 | 0.98876745598057 | 148 | 13176 | 22149956, 22157510, 22160079, 22165422, 22165429, 22165432-22165434, 22170717, 22170768-22170792, 22178631-22178633, 22181414, 22182048-22182058, 22183815-22183821, 22199121, 22199126-22199134, 22199140, 22199146, 22199155-22199160, 22199176, 22199183, 22199523-22199529, 22207007-22207008, 22263648-22263710 |
| 20 | WNT4 | 1 | 0.9157196969697 | 89 | 1056 | 22446721, 22446768-22446770, 22446933-22446934, 22446937, 22446942-22446946, 22469339-22469415 |
| 21 | GALE | 1 | 0.99044890162369 | 10 | 1047 | 24122652, 24122662, 24122694-24122701 |
| 22 | FUCA1 | 1 | 0.94575303354747 | 76 | 1401 | 24194421-24194427, 24194444-24194491, 24194511-24194517, 24194690-24194691, 24194694-24194702, 24194747, 24194750, 24194758 |
| 23 | LDLRAP1 | 1 | 0.90507011866235 | 88 | 927 | 25870190-25870277 |
| 24 | SEPN1 | 1 | 0.88968824940048 | 184 | 1668 | 26126722-26126904, 26135114 |
| 25 | YARS | 1 | 0.99306868304978 | 11 | 1587 | 33241582-33241592 |
| 26 | HPCA | 1 | 0.95017182130584 | 29 | 582 | 33359416, 33359420, 33359426, 33359431, 33359439-33359463 |
| 27 | COL9A2 | 1 | 0.98502415458937 | 31 | 2070 | 40769621, 40771429, 40781296, 40781304-40781305, 40781308, 40782805-40782807, 40782814, 40782818, 40782821, 40782851-40782869 |
| 28 | KCNQ4 | 1 | 0.86159003831418 | 289 | 2088 | 41249766-41249937, 41249952, 41249956-41249962, 41249966-41249989, 41250018, 41250078, 41284198-41284205, 41284207, 41284252-41284255, 41284258-41284263, 41284274-41284314, 41285027, 41289815-41289818, 41296867, 41296964-41296965, 41296973-41296976, 41303397-41303401, 41304035, 41304038-41304042 |
| 29 | CLDN19 | 1 | 0.99407407407407 | 4 | 675 | 43201562-43201565 |
| 30 | LEPRE1 | 1 | 0.89642695612845 | 229 | 2211 | 43232245-43232246, 43232275-43232280, 43232284-43232291, 43232325-43232448, 43232465-43232514, 43232550, 43232553-43232555, 43232582, 43232609-43232642 |
| 31 | SLC2A1 | 1 | 0.98106828938472 | 28 | 1479 | 43395278, 43395284, 43395622-43395624, 43395635-43395639, 43424305-43424322 |
| 32 | MPL | 1 | 0.96802935010482 | 61 | 1908 | 43814522-43814542, 43814968-43814974, 43814978-43815009, 43815012 |
| 33 | MUTYH | 1 | 0.98024219247929 | 31 | 1569 | 45798769-45798784, 45799212-45799214, 45799222-45799232, 45799235 |
| 34 | POMGNT1 | 1 | 0.99949571356531 | 1 | 1983 | 46660265 |
| 35 | ORC1 | 1 | 0.99883990719258 | 3 | 2586 | 52849215-52849217 |
| 36 | CPT2 | 1 | 0.98735457764289 | 25 | 1977 | 53662629, 53662632-53662649, 53662696, 53662700-53662702, 53662713-53662714 |
| 37 | DHCR24 | 1 | 0.84977433913604 | 233 | 1551 | 55341710-55341711, 55352562-55352792 |
| 38 | BSND | 1 | 0.98857736240914 | 11 | 963 | 55473904-55473914 |
| 39 | PCSK9 | 1 | 0.97691197691198 | 48 | 2079 | 55505522-55505526, 55505531, 55505535-55505538, 55505546-55505573, 55505576-55505579, 55521716-55521718, 55521779-55521780, 55529187 |
| 40 | RPE65 | 1 | 0.99875156054931 | 2 | 1602 | 68914375-68914376 |
| 41 | ABCA4 | 1 | 0.99618880093814 | 26 | 6822 | 94466630-94466633, 94497404-94497415, 94497419-94497420, 94497423-94497425, 94544197, 94568576-94568579 |
| 42 | COL11A1 | 1 | 0.98863844603262 | 62 | 5457 | 103354147, 103364251, 103364256, 103364261-103364266, 103364274-103364277, 103364282, 103380315-103380317, 103412468-103412475, 103435775, 103471818-103471853 |
| 43 | GSTM1 | 1 | 0.97869101978691 | 14 | 657 | 110232911-110232917, 110235885-110235891 |
| 44 | NGF | 1 | 0.99586776859504 | 3 | 726 | 115828697, 115828721-115828722 |
| 45 | VANGL1 | 1 | 0.99301587301587 | 11 | 1575 | 116226600, 116226611, 116226662-116226666, 116226671-116226674 |
| 46 | CASQ2 | 1 | 0.99416666666667 | 7 | 1200 | 116244024-116244025, 116244033-116244034, 116269634, 116269639-116269640 |
| 47 | NOTCH2 | 1 | 0.97330097087379 | 198 | 7416 | 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539834-120539840, 120539913-120539919, 120539933-120539955, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120611961-120611967, 120611985-120611988, 120612002, 120612006-120612007 |
| 48 | HFE2 | 1 | 0.9992193598751 | 1 | 1281 | 145415795 |
| 49 | PRPF3 | 1 | 0.98732943469786 | 26 | 2052 | 150297493-150297495, 150297499, 150297502-150297503, 150297509, 150297513-150297514, 150297520-150297530, 150315909-150315913, 150315925 |
| 50 | FLG | 1 | 0.99204004595437 | 97 | 12186 | 152277245-152277292, 152277445-152277473, 152278239-152278244, 152278431-152278437, 152279403-152279409 |
| 51 | CHRNB2 | 1 | 0.96819085487078 | 48 | 1509 | 154540534-154540540, 154540551-154540576, 154544093-154544097, 154544107, 154544117, 154544120, 154544383-154544387, 154544411, 154544421 |
| 52 | DPM3 | 1 | 0.99728997289973 | 1 | 369 | 155112466 |
| 53 | PKLR | 1 | 0.99536231884058 | 8 | 1725 | 155264416-155264423 |
| 54 | LMNA | 1 | 0.97883597883598 | 12 | 567 | 156105080-156105081, 156105763-156105765, 156106034-156106040 |
| 55 | LMNA | 1 | 0.98446115288221 | 31 | 1995 | 156084717-156084725, 156084738, 156084743, 156084746, 156084749, 156084767-156084769, 156105080-156105081, 156105763-156105765, 156106034-156106040, 156108307-156108309 |
| 56 | SEMA4A | 1 | 0.99825021872266 | 4 | 2286 | 156124443, 156126365, 156131206-156131207 |
| 57 | NTRK1 | 1 | 0.96277708071936 | 89 | 2391 | 156830727-156830782, 156830788-156830794, 156830803-156830809, 156830814-156830829, 156830864, 156830867, 156843657 |
| 58 | PPOX | 1 | 0.99930264993026 | 1 | 1434 | 161136689 |
| 59 | MPZ | 1 | 0.99099099099099 | 7 | 777 | 161275909-161275912, 161279652, 161279656, 161279711 |
| 60 | DDR2 | 1 | 0.99883177570093 | 3 | 2568 | 162688866, 162688877-162688878 |
| 61 | SLC19A2 | 1 | 0.96921017402945 | 46 | 1494 | 169454939-169454946, 169454954-169454991 |
| 62 | F5 | 1 | 0.99910112359551 | 6 | 6675 | 169497300, 169505914-169505918 |
| 63 | MYOC | 1 | 0.9960396039604 | 6 | 1515 | 171621693-171621696, 171621706-171621707 |
| 64 | NPHS2 | 1 | 0.8828125 | 135 | 1152 | 179544865-179544999 |
| 65 | LAMC2 | 1 | 0.99944165270798 | 2 | 3582 | 183155514, 183212429 |
| 66 | HMCN1 | 1 | 0.99976342559735 | 4 | 16908 | 185897756, 185958659-185958661 |
| 67 | CFH | 1 | 0.98593073593074 | 52 | 3696 | 196682972-196682973, 196706649-196706651, 196706654-196706657, 196716353-196716395 |
| 68 | CFHR1 | 1 | 0.98992950654582 | 10 | 993 | 196797238, 196797354-196797360, 196801042, 196801078 |
| 69 | ASPM | 1 | 0.99856239217941 | 15 | 10434 | 197073714-197073717, 197094043, 197115484, 197115489-197115490, 197115498-197115499, 197115509-197115513 |
| 70 | CACNA1S | 1 | 0.99786552828175 | 12 | 5622 | 201009826-201009837 |
| 71 | TNNT2 | 1 | 0.99887387387387 | 1 | 888 | 201333472 |
| 72 | REN | 1 | 0.99344799344799 | 8 | 1221 | 204135405-204135408, 204135414-204135417 |
| 73 | CD46 | 1 | 0.99916666666667 | 1 | 1200 | 207925608 |
| 74 | USH2A | 1 | 0.99692485104747 | 48 | 15609 | 215824072-215824075, 216061828-216061846, 216061856-216061864, 216173814-216173816, 216251462-216251465, 216251494-216251497, 216496865, 216496909-216496912 |
| 75 | ADCK3 | 1 | 0.98559670781893 | 28 | 1944 | 227152768-227152778, 227171797-227171803, 227171895-227171904 |
| 76 | GJC2 | 1 | 0.38030303030303 | 818 | 1320 | 228345460-228345535, 228345543-228345551, 228345554-228345557, 228345562-228345565, 228345578-228345596, 228345604-228345613, 228345616-228345617, 228345633-228345634, 228345650, 228345673-228345681, 228345690-228345692, 228345701-228345710, 228345723-228345729, 228345748-228345752, 228345755-228345773, 228345785, 228345789-228345875, 228345894-228345904, 228345913-228345937, 228345946-228345956, 228345981-228346005, 228346012-228346163, 228346166-228346170, 228346173-228346183, 228346188, 228346191-228346198, 228346220-228346257, 228346327-228346548, 228346555-228346560, 228346577-228346591, 228346605-228346612, 228346621-228346625, 228346629-228346633, 228346675-228346676 |
| 77 | ACTA1 | 1 | 0.88359788359788 | 132 | 1134 | 229567780-229567790, 229567833-229567835, 229567838-229567843, 229567846-229567856, 229567878-229567888, 229567899-229567932, 229568017-229568030, 229568068-229568109 |
| 78 | LYST | 1 | 0.99973698053656 | 3 | 11406 | 235866136, 235944233-235944234 |
| 79 | ACTN2 | 1 | 0.95307262569832 | 126 | 2685 | 236849974-236850099 |
| 80 | RYR2 | 1 | 0.99610842726785 | 58 | 14904 | 237205832-237205869, 237821244-237821249, 237821252-237821254, 237942008-237942018 |
| 81 | FH | 1 | 0.98108284409654 | 29 | 1533 | 241672046-241672062, 241672071-241672076, 241682933, 241682949-241682951, 241682968-241682969 |
| 82 | NLRP3 | 1 | 0.99967855994857 | 1 | 3111 | 247588091 |
| 83 | NET1 | 10 | 0.98715801228364 | 23 | 1791 | 5454700-5454703, 5454706-5454715, 5454720, 5454723-5454728, 5454752, 5454774 |
| 84 | GATA3 | 10 | 0.93408239700375 | 88 | 1335 | 8097703-8097737, 8097810-8097849, 8097855-8097859, 8100719, 8100728, 8100734-8100736, 8100744, 8100747-8100748 |
| 85 | OPTN | 10 | 0.99365628604383 | 11 | 1734 | 13174112-13174122 |
| 86 | PHYH | 10 | 0.94296951819076 | 58 | 1017 | 13341968-13341986, 13341994-13342032 |
| 87 | DCLRE1C | 10 | 0.996632996633 | 7 | 2079 | 14981847-14981853 |
| 88 | CUBN | 10 | 0.99733259749816 | 29 | 10872 | 16882360, 16957111, 17032447-17032454, 17032457-17032473, 17142106-17142107 |
| 89 | PTF1A | 10 | 0.29179331306991 | 699 | 987 | 23481460-23482158 |
| 90 | PDSS1 | 10 | 0.92387820512821 | 95 | 1248 | 26986641-26986654, 26986664-26986710, 26986726-26986735, 26986742-26986765 |
| 91 | RET | 10 | 0.96621823617339 | 113 | 3345 | 43572707-43572779, 43595926-43595940, 43600512-43600513, 43600516-43600517, 43600520, 43600571-43600574, 43600578, 43600595-43600598, 43600601-43600606, 43600608, 43600613-43600616 |
| 92 | ERCC6 | 10 | 0.9946452476573 | 24 | 4482 | 50732782-50732789, 50740809-50740812, 50740819-50740828, 50740833, 50740837 |
| 93 | CHAT | 10 | 0.9247886070316 | 169 | 2247 | 50822270, 50822273-50822419, 50822425, 50822455, 50827828, 50830144-50830160, 50872823 |
| 94 | PCDH15 | 10 | 0.99932076753269 | 4 | 5889 | 55587207-55587209, 56138659 |
| 95 | EGR2 | 10 | 0.99231306778477 | 11 | 1431 | 64573336-64573338, 64573495-64573498, 64573503, 64573786-64573788 |
| 96 | PRF1 | 10 | 0.98561151079137 | 24 | 1668 | 72358249, 72358252-72358255, 72358435, 72358438-72358442, 72358448-72358458, 72358462-72358463 |
| 97 | PCBD1 | 10 | 0.99047619047619 | 3 | 315 | 72648288-72648290 |
| 98 | CDH23 | 10 | 0.99761336515513 | 24 | 10056 | 73375295, 73375371-73375373, 73464765, 73537504-73537505, 73567282-73567287, 73567291-73567294, 73574844-73574850 |
| 99 | PSAP | 10 | 0.99492063492063 | 8 | 1575 | 73578374-73578381 |
| 100 | VCL | 10 | 0.9726872246696 | 93 | 3405 | 75757973-75757976, 75757980-75757982, 75757987-75758009, 75758020-75758032, 75758040-75758042, 75758077-75758084, 75758088-75758089, 75758101-75758133, 75854154, 75873968, 75873972, 75873978 |
| 101 | LDB3 | 10 | 0.98855311355311 | 25 | 2184 | 88441421, 88441424-88441425, 88466338, 88476140, 88476144, 88476153, 88476164-88476177, 88476188-88476191 |
| 102 | GLUD1 | 10 | 0.75790101371497 | 406 | 1677 | 88836362-88836368, 88854082-88854342, 88854355, 88854369, 88854377-88854387, 88854402-88854526 |
| 103 | ANKRD1 | 10 | 0.99895833333333 | 1 | 960 | 92679017 |
| 104 | PLCE1 | 10 | 0.99927630626719 | 5 | 6909 | 96005825-96005829 |
| 105 | HPS1 | 10 | 0.98955365622032 | 22 | 2106 | 100177368-100177375, 100177378-100177384, 100177426-100177432 |
| 106 | CPN1 | 10 | 0.99927378358751 | 1 | 1377 | 101816833 |
| 107 | PAX2 | 10 | 0.9738260200154 | 34 | 1299 | 102587332-102587365 |
| 108 | FBXW4 | 10 | 0.93301049233253 | 83 | 1239 | 103371139, 103454138-103454170, 103454182-103454188, 103454191-103454193, 103454196-103454204, 103454218-103454220, 103454225, 103454228-103454231, 103454248, 103454251-103454257, 103454261, 103454310, 103454318-103454323, 103454357-103454360, 103454384, 103454390 |
| 109 | HPS6 | 10 | 0.82044673539519 | 418 | 2328 | 103825233, 103825238-103825245, 103825247, 103825267-103825562, 103825636-103825637, 103825682-103825702, 103825765-103825829, 103825839, 103826060, 103826231, 103826242-103826248, 103826252, 103826993-103826999, 103827012, 103827019-103827020, 103827025-103827027 |
| 110 | SUFU | 10 | 0.92302405498282 | 112 | 1455 | 104263910-104263973, 104263980-104264008, 104264015-104264031, 104264054, 104264078 |
| 111 | COL17A1 | 10 | 0.98865153538051 | 51 | 4494 | 105816789-105816838, 105816911 |
| 112 | HABP2 | 10 | 0.99524658348188 | 8 | 1683 | 115343989-115343996 |
| 113 | EMX2 | 10 | 0.57575757575758 | 322 | 759 | 119302779-119303063, 119303087-119303122, 119303181 |
| 114 | BAG3 | 10 | 0.89583333333333 | 180 | 1728 | 121411188-121411367 |
| 115 | HTRA1 | 10 | 0.67151767151767 | 474 | 1443 | 124221169-124221632, 124266207-124266215, 124266218 |
| 116 | UROS | 10 | 0.99874686716792 | 1 | 798 | 127477540 |
| 117 | TALDO1 | 11 | 0.90138067061144 | 100 | 1014 | 747482-747578, 763344-763346 |
| 118 | SLC25A22 | 11 | 0.90123456790123 | 96 | 972 | 791931-791936, 791941, 791945-791946, 792582-792591, 792599-792616, 792622, 792625-792642, 792645-792651, 792656, 792661-792666, 792671-792682, 792692-792701, 792870-792872, 792876 |
| 119 | PNPLA2 | 11 | 0.78217821782178 | 330 | 1515 | 819719-819905, 823998-824016, 824025-824034, 824099-824101, 824314, 824330-824352, 824402-824405, 824409-824424, 824561, 824630-824644, 824661-824662, 824666-824674, 824716, 824725-824734, 824762, 824766, 824772-824793, 824797-824799, 824805, 824858 |
| 120 | CTSD | 11 | 0.91202582728006 | 109 | 1239 | 1774891, 1775065-1775066, 1775224-1775246, 1775308, 1775317-1775319, 1775329-1775333, 1775338-1775343, 1785022-1785089 |
| 121 | TNNI2 | 11 | 0.89617486338798 | 57 | 549 | 1861809-1861835, 1862319-1862324, 1862334-1862357 |
| 122 | TNNT3 | 11 | 0.99356499356499 | 5 | 777 | 1959701-1959704, 1959707 |
| 123 | H19 | 11 | 0.91129785247432 | 95 | 1071 | 2017400-2017404, 2017753, 2017758-2017759, 2017765, 2017826-2017836, 2017841-2017852, 2017872, 2017886, 2017977, 2018016-2018021, 2018035, 2018039-2018047, 2018072-2018110, 2018127, 2018130, 2018134, 2018170, 2018173 |
| 124 | IGF2 | 11 | 0.76933895921238 | 164 | 711 | 2154252, 2154255, 2161365-2161526 |
| 125 | TH | 11 | 0.9231746031746 | 121 | 1575 | 2187717-2187722, 2187727, 2187743-2187758, 2187767-2187779, 2187863-2187884, 2187943-2187945, 2187951-2187965, 2187969, 2187974-2187975, 2187977-2187980, 2187988-2187993, 2188122, 2188170-2188179, 2188198-2188200, 2191015-2191020, 2191989-2192000 |
| 126 | KCNQ1 | 11 | 0.84638109305761 | 312 | 2031 | 2466329-2466571, 2466588-2466632, 2466643-2466657, 2683242-2683248, 2869109-2869110 |
| 127 | CDKN1C | 11 | 0.26182965299685 | 702 | 951 | 2905234-2905235, 2905250, 2905256, 2905270, 2905294, 2905298, 2905900-2906456, 2906466-2906526, 2906542-2906588, 2906610-2906639 |
| 128 | SMPD1 | 11 | 0.98786919831224 | 23 | 1896 | 6411935-6411941, 6411950-6411961, 6412742-6412743, 6412993, 6412996 |
| 129 | SBF2 | 11 | 0.98414414414414 | 88 | 5550 | 9809192-9809207, 9838414-9838422, 9868527-9868534, 10315562-10315616 |
| 130 | ABCC8 | 11 | 0.98735777496839 | 60 | 4746 | 17498176-17498203, 17498212-17498217, 17498274-17498298, 17498323 |
| 131 | USH1C | 11 | 0.93814814814815 | 167 | 2700 | 17531098-17531104, 17531114-17531117, 17531123-17531125, 17531130-17531140, 17531149-17531155, 17531164-17531186, 17531194-17531254, 17531264-17531269, 17531285-17531298, 17531306-17531326, 17531336-17531345 |
| 132 | CSRP3 | 11 | 0.98119658119658 | 11 | 585 | 19207811-19207821 |
| 133 | SLC6A5 | 11 | 0.99081035923141 | 22 | 2394 | 20622797-20622799, 20622810-20622815, 20622831-20622834, 20622967-20622972, 20622975, 20622982, 20623006 |
| 134 | ANO5 | 11 | 0.99598832968636 | 11 | 2742 | 22276989, 22276992-22276996, 22277006, 22277008-22277010, 22277014 |
| 135 | FANCF | 11 | 0.99555555555556 | 5 | 1125 | 22646845-22646849 |
| 136 | PAX6 | 11 | 0.99921197793538 | 1 | 1269 | 31824339 |
| 137 | WT1 | 11 | 0.72779922779923 | 423 | 1554 | 32450043, 32450048-32450054, 32450059, 32456337-32456342, 32456484-32456891 |
| 138 | PDHX | 11 | 0.99867197875166 | 2 | 1506 | 34938265, 35016623 |
| 139 | EXT2 | 11 | 0.99953639313862 | 1 | 2157 | 44193288 |
| 140 | ALX4 | 11 | 0.94417475728155 | 69 | 1236 | 44286598-44286608, 44331150-44331173, 44331188-44331191, 44331203, 44331233, 44331238, 44331242, 44331268-44331271, 44331274-44331275, 44331278-44331283, 44331286-44331290, 44331300-44331301, 44331309, 44331313, 44331391, 44331396-44331399 |
| 141 | SLC35C1 | 11 | 0.98200757575758 | 19 | 1056 | 45827804-45827816, 45827830-45827834, 45832557 |
| 142 | PEX16 | 11 | 0.93756003842459 | 65 | 1041 | 45935429-45935430, 45935444-45935446, 45935452-45935455, 45935962, 45935981, 45935985, 45937361, 45937367-45937368, 45937373-45937377, 45939251-45939258, 45939266-45939302 |
| 143 | DDB2 | 11 | 0.97429906542056 | 33 | 1284 | 47236738, 47236765-47236796 |
| 144 | SLC39A13 | 11 | 0.99372759856631 | 7 | 1116 | 47431751-47431753, 47433930-47433933 |
| 145 | RAPSN | 11 | 0.99435028248588 | 7 | 1239 | 47460292, 47460320, 47460371, 47460417-47460418, 47463209, 47464251 |
| 146 | SERPING1 | 11 | 0.97870924817033 | 32 | 1503 | 57365744-57365766, 57365775-57365781, 57381923-57381924 |
| 147 | BEST1 | 11 | 0.98748577929465 | 22 | 1758 | 61723301, 61723318-61723321, 61725754-61725770 |
| 148 | ROM1 | 11 | 0.99621212121212 | 4 | 1056 | 62380777-62380780 |
| 149 | SLC22A12 | 11 | 0.98074608904934 | 32 | 1662 | 64366346-64366352, 64367154-64367158, 64367173-64367174, 64367271-64367272, 64367278, 64367286-64367300 |
| 150 | PYGM | 11 | 0.99762752075919 | 6 | 2529 | 64521058, 64521144, 64521401, 64527128-64527130 |
| 151 | MEN1 | 11 | 0.99891774891775 | 2 | 1848 | 64573146, 64577580 |
| 152 | RNASEH2C | 11 | 0.92929292929293 | 35 | 495 | 65487881-65487888, 65488130, 65488162-65488168, 65488178, 65488182-65488193, 65488198-65488200, 65488214, 65488219, 65488225 |
| 153 | EFEMP2 | 11 | 0.996996996997 | 4 | 1332 | 65639793-65639796 |
| 154 | CST6 | 11 | 0.96 | 18 | 450 | 65779547-65779553, 65779563, 65779668-65779671, 65779676-65779679, 65780376, 65780407 |
| 155 | SPTBN2 | 11 | 0.99470235605744 | 38 | 7173 | 66453476, 66454945-66454949, 66455339-66455342, 66457615-66457620, 66457631, 66457726, 66457731-66457732, 66468735, 66472489, 66472537-66472541, 66472552, 66472578, 66472594, 66472602, 66472615-66472616, 66472742, 66472850-66472853 |
| 156 | PC | 11 | 0.99378003958157 | 22 | 3537 | 66620009-66620013, 66620053-66620056, 66633669-66633672, 66633676, 66633680, 66633813-66633819 |
| 157 | CABP4 | 11 | 0.99154589371981 | 7 | 828 | 67225908-67225913, 67225916 |
| 158 | AIP | 11 | 0.98791540785498 | 12 | 993 | 67256817, 67257811, 67257815, 67257829, 67257836-67257838, 67258358-67258362 |
| 159 | NDUFV1 | 11 | 0.99928315412186 | 1 | 1395 | 67379927 |
| 160 | TCIRG1 | 11 | 0.97593261131167 | 60 | 2493 | 67810178, 67810261-67810262, 67810448-67810452, 67810455-67810477, 67811319-67811339, 67811343, 67811363-67811364, 67816550, 67817130, 67817150, 67817158, 67817161 |
| 161 | LRP5 | 11 | 0.97153465346535 | 138 | 4848 | 68080183-68080273, 68131217, 68131243, 68133144-68133163, 68133169-68133170, 68153805, 68207317, 68207320, 68207333-68207337, 68207347-68207354, 68207364-68207369, 68216535 |
| 162 | CPT1A | 11 | 0.99913867355728 | 2 | 2322 | 68527720-68527721 |
| 163 | IGHMBP2 | 11 | 0.9989939637827 | 3 | 2982 | 68671475-68671477 |
| 164 | DHCR7 | 11 | 0.98459383753501 | 22 | 1428 | 71146486-71146487, 71146577, 71146581-71146583, 71146606-71146613, 71146647, 71146660-71146665, 71146675 |
| 165 | LRTOMT | 11 | 0.99200913242009 | 7 | 876 | 71819776, 71819784, 71819801-71819805 |
| 166 | MYO7A | 11 | 0.99608904933815 | 26 | 6648 | 76858906-76858907, 76883858, 76912527-76912546, 76922281-76922283 |
| 167 | FZD4 | 11 | 0.99752168525403 | 4 | 1614 | 86665845, 86666070, 86666081, 86666086 |
| 168 | MTMR2 | 11 | 0.99275362318841 | 14 | 1932 | 95657077-95657082, 95657089, 95657102, 95657106-95657111 |
| 169 | TRPC6 | 11 | 0.99964234620887 | 1 | 2796 | 101454185 |
| 170 | DYNC2H1 | 11 | 0.99181151023561 | 106 | 12945 | 102991489-102991493, 102991501-102991503, 102991510-102991512, 102991515-102991523, 102991528-102991531, 103041676-103041687, 103043811-103043818, 103043833-103043835, 103043845, 103052532-103052541, 103062341, 103090653-103090666, 103191848-103191880 |
| 171 | ATM | 11 | 0.99792825209901 | 19 | 9171 | 108126981, 108188142, 108204664-108204680 |
| 172 | ALG9 | 11 | 0.97385620915033 | 48 | 1836 | 111742112-111742121, 111742137-111742138, 111742145, 111742147-111742151, 111742158-111742184, 111742196-111742198 |
| 173 | PTS | 11 | 0.96575342465753 | 15 | 438 | 112097167-112097181 |
| 174 | APOA1 | 11 | 0.96393034825871 | 29 | 804 | 116706610-116706611, 116706614-116706617, 116706747, 116706794-116706807, 116706861-116706868 |
| 175 | ROBO3 | 11 | 0.97788993030522 | 92 | 4161 | 124738899-124738903, 124739419-124739422, 124739430-124739435, 124745097-124745098, 124745899-124745904, 124745915-124745919, 124745935-124745939, 124745971-124745978, 124745998, 124746006-124746007, 124746015, 124746181-124746183, 124746255-124746259, 124746269-124746283, 124746294-124746298, 124746312, 124748635-124748636, 124748643-124748644, 124749712-124749725 |
| 176 | ACAD8 | 11 | 0.99919871794872 | 1 | 1248 | 134123515 |
| 177 | WNK1 | 12 | 0.98279479647503 | 123 | 7149 | 862738-862740, 862762, 862796-862827, 862833-862869, 862895-862903, 862923-862924, 862929-862935, 862968-862975, 862979, 862989, 863146-863150, 863263, 863300, 994497, 994797-994810 |
| 178 | CACNA2D4 | 12 | 0.99824253075571 | 6 | 3414 | 1902901-1902903, 1906634, 1906640, 2027542 |
| 179 | CACNA1C | 12 | 0.98933089468069 | 70 | 6561 | 2224481, 2224484, 2224510, 2788730, 2788736-2788737, 2788741, 2788744, 2791765, 2791768, 2794934-2794940, 2800250-2800256, 2800270-2800314, 2800360 |
| 180 | KCNA1 | 12 | 0.99596774193548 | 6 | 1488 | 5020587, 5020692-5020696 |
| 181 | VWF | 12 | 0.97749348495617 | 190 | 8442 | 6058300, 6122706-6122708, 6125338-6125344, 6125717, 6125813-6125822, 6127597-6127603, 6127637-6127661, 6128064-6128079, 6128167-6128173, 6128339-6128345, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166032-6166036, 6166080-6166081, 6166087-6166100, 6166113, 6166207-6166220, 6166225-6166227, 6166230 |
| 182 | TNFRSF1A | 12 | 0.91739766081871 | 113 | 1368 | 6438525, 6438571-6438628, 6438639-6438674, 6438684, 6438687-6438689, 6438692, 6438704-6438707, 6438711, 6438980-6438987 |
| 183 | SCNN1A | 12 | 0.99725651577503 | 6 | 2187 | 6464572-6464575, 6472713, 6472747 |
| 184 | TPI1 | 12 | 0.84666666666667 | 115 | 750 | 6976731-6976845 |
| 185 | ATN1 | 12 | 0.98488664987406 | 54 | 3573 | 7045599-7045600, 7045603-7045604, 7045607-7045610, 7045892-7045931, 7046595-7046596, 7047146-7047148, 7047151 |
| 186 | AICDA | 12 | 0.99329983249581 | 4 | 597 | 8756880-8756883 |
| 187 | ABCC9 | 12 | 0.99720430107527 | 13 | 4650 | 21991058-21991059, 22063760-22063770 |
| 188 | DNM1L | 12 | 0.99547715965626 | 10 | 2211 | 32832393-32832399, 32890854-32890856 |
| 189 | PKP2 | 12 | 0.99522673031026 | 12 | 2514 | 33049483, 33049567-33049574, 33049602, 33049664-33049665 |
| 190 | KIF21A | 12 | 0.99638989169675 | 18 | 4986 | 39726727, 39836729, 39836734, 39836739-39836741, 39836752-39836757, 39836767-39836772 |
| 191 | VDR | 12 | 0.99922118380062 | 1 | 1284 | 48251382 |
| 192 | COL2A1 | 12 | 0.98387096774194 | 72 | 4464 | 48393775-48393812, 48398067-48398100 |
| 193 | MLL2 | 12 | 0.98591549295775 | 234 | 16614 | 49420846-49420853, 49420907-49420909, 49424457-49424462, 49426117-49426118, 49426167-49426186, 49426198-49426217, 49426515, 49426629, 49426730-49426732, 49426737, 49426858, 49426879, 49426902-49426905, 49426912-49426924, 49426930, 49426950, 49427008, 49427019, 49427028, 49427035, 49427038-49427041, 49427045-49427061, 49427071, 49427076-49427081, 49427119, 49427125-49427129, 49427186-49427188, 49427198-49427203, 49427213-49427217, 49427257-49427273, 49427316-49427320, 49427656-49427659, 49427668, 49430933-49430938, 49431298-49431303, 49431311-49431312, 49431541-49431553, 49431870-49431883, 49433320, 49434066-49434068, 49434091, 49434097-49434099, 49434735, 49435196-49435198, 49435201, 49435205-49435206, 49440515-49440520, 49446172-49446178 |
| 194 | DHH | 12 | 0.9487825356843 | 61 | 1191 | 49483642-49483649, 49483658-49483659, 49483721-49483723, 49483727-49483730, 49483755, 49483761-49483764, 49483769, 49483775, 49483803, 49483845, 49483850-49483864, 49483875-49483877, 49483891, 49483897, 49483901, 49483903-49483908, 49484151, 49484159-49484164, 49488232 |
| 195 | TUBA1A | 12 | 0.8969298245614 | 47 | 456 | 49522195-49522241 |
| 196 | ACVRL1 | 12 | 0.9702380952381 | 45 | 1512 | 52307019-52307026, 52308245-52308273, 52308356-52308362, 52312884 |
| 197 | KRT81 | 12 | 0.98616600790514 | 21 | 1518 | 52680056-52680058, 52680213-52680218, 52684891-52684900, 52685184, 52685190 |
| 198 | KRT86 | 12 | 0.98973305954825 | 15 | 1461 | 52695764, 52695851-52695857, 52696053-52696059 |
| 199 | KRT6B | 12 | 0.9858407079646 | 24 | 1695 | 52844380-52844403 |
| 200 | KRT6C | 12 | 0.99941002949853 | 1 | 1695 | 52867269 |
| 201 | KRT6A | 12 | 0.98761061946903 | 21 | 1695 | 52881506, 52885475-52885481, 52885492-52885495, 52885498-52885505, 52886922 |
| 202 | KRT5 | 12 | 0.95036661026509 | 88 | 1773 | 52908800, 52908839, 52908885-52908924, 52908931-52908969, 52912895, 52912917-52912919, 52912925, 52912932, 52912935 |
| 203 | KRT2 | 12 | 0.996875 | 6 | 1920 | 53040619, 53040655-53040658, 53045777 |
| 204 | KRT1 | 12 | 0.98759689922481 | 24 | 1935 | 53069223-53069243, 53070137, 53070159-53070160 |
| 205 | KRT4 | 12 | 0.99943977591036 | 1 | 1785 | 53201146 |
| 206 | AAAS | 12 | 0.98964046313224 | 17 | 1641 | 53701403-53701413, 53701437-53701442 |
| 207 | ITGA7 | 12 | 0.99708114419148 | 10 | 3426 | 56081795, 56086679-56086681, 56088563-56088568 |
| 208 | MYO1A | 12 | 0.99904214559387 | 3 | 3132 | 57440376-57440378 |
| 209 | KIF5A | 12 | 0.99935463052598 | 2 | 3099 | 57944165, 57944168 |
| 210 | CYP27B1 | 12 | 0.99869024230517 | 2 | 1527 | 58158985-58158986 |
| 211 | TSFM | 12 | 0.99897750511247 | 1 | 978 | 58176625 |
| 212 | GNS | 12 | 0.98432790837854 | 26 | 1659 | 65141665-65141669, 65152977-65152984, 65153008-65153013, 65153019-65153025 |
| 213 | LEMD3 | 12 | 0.93347953216374 | 182 | 2736 | 65563377-65563400, 65563547-65563554, 65563607-65563609, 65563613-65563637, 65563650-65563658, 65563714-65563732, 65563753-65563757, 65563766, 65563771, 65563774, 65563797, 65563815-65563853, 65563869, 65563873, 65563887, 65563890-65563893, 65563916, 65563922, 65563938, 65563952, 65563974-65564008 |
| 214 | CEP290 | 12 | 0.99408602150538 | 44 | 7440 | 88472941-88472965, 88472986, 88481590, 88481593-88481594, 88512450, 88522774-88522787 |
| 215 | HAL | 12 | 0.97213779128673 | 55 | 1974 | 96380903-96380909, 96389496-96389541, 96389634-96389635 |
| 216 | TMPO | 12 | 0.94676258992806 | 111 | 2085 | 98909713, 98909717-98909725, 98909733-98909739, 98909750, 98909763-98909773, 98909795-98909805, 98909822-98909869, 98909879-98909880, 98909886-98909896, 98909899, 98909907-98909909, 98909919-98909924 |
| 217 | SLC25A3 | 12 | 0.99449035812672 | 6 | 1089 | 98987872-98987877 |
| 218 | SLC17A8 | 12 | 0.99774011299435 | 4 | 1770 | 100797880-100797883 |
| 219 | SYCP3 | 12 | 0.9985935302391 | 1 | 711 | 102127403 |
| 220 | UNG | 12 | 0.947983014862 | 49 | 942 | 109535552-109535600 |
| 221 | MVK | 12 | 0.99916036943745 | 1 | 1191 | 110034258 |
| 222 | TRPV4 | 12 | 0.99579510703364 | 11 | 2616 | 110221432, 110221443-110221447, 110221450, 110221457-110221460 |
| 223 | ATP2A2 | 12 | 0.96420581655481 | 112 | 3129 | 110719595-110719704, 110719711-110719712 |
| 224 | MYL2 | 12 | 0.99800399201597 | 1 | 501 | 111348961 |
| 225 | ATXN2 | 12 | 0.83384069000507 | 655 | 3942 | 112036588-112037238, 112037306-112037308, 112037311 |
| 226 | PTPN11 | 12 | 0.99214365881033 | 14 | 1782 | 112856916-112856929 |
| 227 | TBX5 | 12 | 0.98394348105331 | 25 | 1557 | 114793804-114793820, 114803970-114803977 |
| 228 | TBX3 | 12 | 0.93055555555556 | 155 | 2232 | 115109689, 115109872, 115109881, 115109903-115109906, 115109913-115109921, 115112044-115112061, 115112083-115112102, 115112208-115112211, 115112220-115112228, 115112232, 115112236, 115112250-115112256, 115112274-115112279, 115112284, 115112293, 115112300-115112301, 115112320-115112327, 115112351-115112387, 115112436-115112441, 115112448-115112465 |
| 229 | ACADS | 12 | 0.9911218724778 | 11 | 1239 | 121163694-121163699, 121163702-121163706 |
| 230 | HNF1A | 12 | 0.95569620253165 | 84 | 1896 | 121416585, 121416588, 121416591-121416624, 121416632, 121416693-121416697, 121434188-121434194, 121434352-121434378, 121437095, 121437374, 121438905-121438906, 121438917-121438920 |
| 231 | HPD | 12 | 0.98984771573604 | 12 | 1182 | 122287619-122287630 |
| 232 | EIF2B1 | 12 | 0.99019607843137 | 9 | 918 | 124116933-124116941 |
| 233 | PUS1 | 12 | 0.94626168224299 | 69 | 1284 | 132414268-132414277, 132414283-132414288, 132414310, 132414452-132414459, 132414472, 132414478-132414483, 132414485-132414491, 132414494-132414511, 132414619, 132425996-132425999, 132426004-132426009, 132426511 |
| 234 | GJB6 | 13 | 0.99745547073791 | 2 | 786 | 20797351-20797352 |
| 235 | SACS | 13 | 0.98886462882096 | 153 | 13740 | 23914166-23914167, 23949258-23949408 |
| 236 | CENPJ | 13 | 0.99975105800349 | 1 | 4017 | 25459414 |
| 237 | PDX1 | 13 | 0.86619718309859 | 114 | 852 | 28494288, 28494291-28494292, 28494307-28494308, 28494342-28494345, 28494349-28494351, 28494400, 28494411-28494415, 28494539-28494541, 28494556-28494566, 28494589, 28498412-28498415, 28498419-28498433, 28498437, 28498450-28498456, 28498513, 28498608, 28498612-28498620, 28498657-28498659, 28498670-28498677, 28498682-28498687, 28498700-28498708, 28498721, 28498742, 28498749-28498750, 28498782, 28498786-28498791, 28498797, 28498801-28498805 |
| 238 | B3GALTL | 13 | 0.95323981295925 | 70 | 1497 | 31774222-31774291 |
| 239 | BRCA2 | 13 | 0.99853758408891 | 15 | 10257 | 32915298-32915310, 32930720-32930721 |
| 240 | SPG20 | 13 | 0.99700149925037 | 6 | 2001 | 36905632-36905637 |
| 241 | FREM2 | 13 | 0.99169295478444 | 79 | 9510 | 39261570-39261574, 39261640, 39261682, 39261902-39261938, 39261951-39261967, 39262861-39262864, 39433576-39433589 |
| 242 | TNFSF11 | 13 | 0.9979035639413 | 2 | 954 | 43148492, 43148549 |
| 243 | SUCLA2 | 13 | 0.99425287356322 | 8 | 1392 | 48542801-48542808 |
| 244 | RB1 | 13 | 0.97811266594905 | 61 | 2787 | 48878091, 48878111-48878114, 48878116-48878123, 48878132, 48878140-48878185, 48939033 |
| 245 | RNASEH2B | 13 | 0.95953141640043 | 38 | 939 | 51484213-51484217, 51484220, 51484231-51484244, 51484247-51484264 |
| 246 | ATP7B | 13 | 0.99818099135971 | 8 | 4398 | 52518373-52518380 |
| 247 | CLN5 | 13 | 0.97875816993464 | 26 | 1224 | 77566133, 77566266-77566273, 77566277, 77566288-77566293, 77566300-77566302, 77566390-77566396 |
| 248 | SLITRK1 | 13 | 0.99760879961741 | 5 | 2091 | 84453800-84453801, 84453804, 84455062-84455063 |
| 249 | ZIC2 | 13 | 0.52095059412133 | 766 | 1599 | 100634319-100634806, 100634812-100634815, 100634821, 100634824-100634833, 100634842-100634847, 100634853-100634854, 100634860-100634863, 100634868-100634869, 100634872, 100634968, 100634997-100635002, 100635026-100635032, 100635148, 100635170, 100637597, 100637600, 100637603, 100637616, 100637620-100637631, 100637645-100637692, 100637699-100637865, 100637909 |
| 250 | PCCA | 13 | 0.99039780521262 | 21 | 2187 | 100741432, 100741438-100741439, 100741442-100741454, 100741460, 100741464, 100909912-100909914 |
| 251 | ERCC5 | 13 | 0.99716914366596 | 12 | 4239 | 103513977-103513979, 103515389-103515392, 103515397-103515399, 103518158, 103518679 |
| 252 | COL4A1 | 13 | 0.97604790419162 | 120 | 5010 | 110817252-110817265, 110853807, 110853822-110853824, 110853827-110853828, 110864248-110864269, 110895022, 110959291-110959307, 110959315-110959374 |
| 253 | F7 | 13 | 0.88539325842697 | 153 | 1335 | 113765004-113765120, 113765128-113765162, 113772806 |
| 254 | GRK1 | 13 | 0.96808510638298 | 54 | 1692 | 114321787-114321827, 114322044-114322050, 114325883, 114325896-114325898, 114426084-114426085 |
| 255 | TEP1 | 14 | 0.99771689497717 | 18 | 7884 | 20844388-20844390, 20851755-20851756, 20851762-20851767, 20851770, 20851774-20851775, 20851781-20851783, 20852382 |
| 256 | RPGRIP1 | 14 | 0.999481999482 | 2 | 3861 | 21769184, 21769337 |
| 257 | SLC7A7 | 14 | 0.99869791666667 | 2 | 1536 | 23282124-23282125 |
| 258 | PABPN1 | 14 | 0.61889250814332 | 351 | 921 | 23790679-23791029 |
| 259 | MYH6 | 14 | 0.99862542955326 | 8 | 5820 | 23857400, 23858211, 23858221-23858223, 23858227, 23858233-23858234 |
| 260 | MYH7 | 14 | 0.9965564738292 | 20 | 5808 | 23885258-23885260, 23885263-23885274, 23886754, 23887529-23887530, 23887536, 23887582 |
| 261 | NRL | 14 | 0.73809523809524 | 187 | 714 | 24550497-24550543, 24550552-24550562, 24550566-24550571, 24550573, 24550579-24550585, 24550588-24550589, 24550594-24550622, 24550631, 24550633, 24550638, 24550641-24550648, 24550658-24550719, 24550731-24550735, 24550757-24550762 |
| 262 | FOXG1 | 14 | 0.65646258503401 | 505 | 1470 | 29236486-29236977, 29237275, 29237281, 29237286-29237287, 29237490-29237497, 29237802 |
| 263 | COCH | 14 | 0.98185117967332 | 30 | 1653 | 31344266-31344295 |
| 264 | CFL2 | 14 | 0.9940119760479 | 3 | 501 | 35183744-35183746 |
| 265 | NKX2-1 | 14 | 0.59867330016584 | 484 | 1206 | 36986578-36986626, 36986634-36986655, 36986669-36986929, 36987027, 36987083-36987088, 36987106-36987108, 36987117-36987121, 36987124-36987126, 36988190-36988213, 36988261-36988262, 36988265-36988266, 36988333-36988340, 36988347, 36988364, 36988374-36988380, 36988383, 36988389-36988391, 36988396-36988407, 36988424, 36988430-36988455, 36989271-36989273, 36989288-36989292, 36989295-36989332 |
| 266 | FANCM | 14 | 0.9977224662437 | 14 | 6147 | 45605358-45605368, 45605374-45605376 |
| 267 | MGAT2 | 14 | 0.99479166666667 | 7 | 1344 | 50088129, 50088133-50088135, 50088141-50088143 |
| 268 | C14orf104 | 14 | 0.85759745425617 | 358 | 2514 | 50100459, 50100603-50100605, 50100683, 50100730-50100734, 50100740-50100767, 50100772-50100780, 50100801-50100828, 50100867, 50100873, 50100876-50100883, 50100894-50100915, 50100921-50100924, 50100931, 50100942-50100944, 50100949, 50100954-50100964, 50100969-50100995, 50101006-50101014, 50101023-50101050, 50101080-50101097, 50101102-50101113, 50101136, 50101232-50101275, 50101301-50101307, 50101339-50101344, 50101347-50101348, 50101351, 50101362-50101365, 50101368-50101370, 50101373-50101383, 50101407-50101412, 50101414-50101420, 50101440-50101465, 50101535, 50101538, 50101556-50101567, 50101701, 50101704, 50101707, 50101710, 50101801 |
| 269 | L2HGDH | 14 | 0.99712643678161 | 4 | 1392 | 50769620-50769623 |
| 270 | PYGL | 14 | 0.99842767295597 | 4 | 2544 | 51410892, 51410957, 51410961, 51410968 |
| 271 | GCH1 | 14 | 0.81009296148738 | 143 | 753 | 55369089, 55369127-55369131, 55369140-55369141, 55369173, 55369213-55369217, 55369233-55369238, 55369259-55369381 |
| 272 | SIX6 | 14 | 0.99865047233468 | 1 | 741 | 60976222 |
| 273 | SIX1 | 14 | 0.9672514619883 | 28 | 855 | 61115420-61115422, 61115428-61115446, 61115505, 61115531-61115533, 61115600, 61115670 |
| 274 | SYNE2 | 14 | 0.99966222736923 | 7 | 20724 | 64483285, 64516355-64516356, 64676742, 64679702, 64685228-64685229 |
| 275 | ZFYVE26 | 14 | 0.99396325459318 | 46 | 7620 | 68241753-68241762, 68241769-68241773, 68241779-68241784, 68242684-68242696, 68242718, 68244313-68244316, 68244319, 68257296, 68274210-68274213, 68274511 |
| 276 | PSEN1 | 14 | 0.99928774928775 | 1 | 1404 | 73678601 |
| 277 | VSX2 | 14 | 0.89963167587477 | 109 | 1086 | 74706349, 74706390-74706435, 74706443-74706480, 74706502, 74706603, 74706606-74706615, 74706620-74706631 |
| 278 | EIF2B2 | 14 | 0.99810606060606 | 2 | 1056 | 75471509-75471510 |
| 279 | MLH3 | 14 | 0.99701971572673 | 13 | 4362 | 75483812, 75483821-75483822, 75483826-75483831, 75515609-75515612 |
| 280 | FLVCR2 | 14 | 0.99810246679317 | 3 | 1581 | 76045387, 76045395, 76045749 |
| 281 | TGFB3 | 14 | 0.99919289749798 | 1 | 1239 | 76427399 |
| 282 | ESRRB | 14 | 0.97184020956123 | 43 | 1527 | 76964666-76964676, 76964683-76964704, 76964707-76964716 |
| 283 | POMT2 | 14 | 0.9751442521083 | 56 | 2253 | 77744807-77744813, 77745193, 77786865-77786866, 77786894-77786926, 77786938, 77786941-77786946, 77786960, 77786964-77786966, 77786973, 77787000 |
| 284 | VIPAR | 14 | 0.99932523616734 | 1 | 1482 | 77894729 |
| 285 | TSHR | 14 | 0.99738562091503 | 6 | 2295 | 81422051, 81422055-81422057, 81422061-81422062 |
| 286 | GALC | 14 | 0.96404275996113 | 74 | 2058 | 88459342, 88459370, 88459380-88459451 |
| 287 | TTC8 | 14 | 0.99741602067183 | 4 | 1548 | 89323618-89323621 |
| 288 | ATXN3 | 14 | 0.99079189686924 | 10 | 1086 | 92537343-92537346, 92537353-92537358 |
| 289 | VRK1 | 14 | 0.99916036943745 | 1 | 1191 | 97304151 |
| 290 | AMN | 14 | 0.55433186490455 | 607 | 1362 | 103395102-103395105, 103395123, 103395147-103395185, 103395194-103395230, 103395297-103395298, 103395458-103395477, 103395493-103395543, 103395562-103395571, 103395579-103395584, 103395590-103395595, 103395807-103395814, 103395817-103395820, 103395992-103395997, 103396026-103396032, 103396283-103396332, 103396365-103396387, 103396403-103396423, 103396502-103396664, 103396743-103396830, 103396913-103396916, 103396923-103396925, 103396927-103396933, 103396940-103396986 |
| 291 | INF2 | 14 | 0.87866666666667 | 455 | 3750 | 105167922-105167930, 105170258, 105173616-105173620, 105173644-105173649, 105173659-105173705, 105173717, 105173749-105173753, 105173756-105173777, 105173783-105173791, 105173839-105174130, 105174146-105174152, 105174177, 105174185-105174186, 105174248, 105174253-105174254, 105174260, 105174269, 105174286-105174324, 105175996-105175999 |
| 292 | NIPA1 | 15 | 0.81212121212121 | 186 | 990 | 23060880-23060887, 23086234-23086411 |
| 293 | UBE3A | 15 | 0.99200913242009 | 21 | 2628 | 25616251-25616257, 25616358-25616364, 25616620-25616626 |
| 294 | OCA2 | 15 | 0.99602701628923 | 10 | 2517 | 28263670-28263672, 28326913, 28326940, 28326943-28326945, 28326974, 28326977 |
| 295 | IVD | 15 | 0.98907103825137 | 14 | 1281 | 40707164-40707177 |
| 296 | CHST14 | 15 | 0.84438549955791 | 176 | 1131 | 40763413-40763514, 40763524-40763533, 40763536, 40763572-40763573, 40763576-40763580, 40763655-40763664, 40763668-40763672, 40763677-40763683, 40763686-40763694, 40763779-40763780, 40763804-40763812, 40763815-40763828 |
| 297 | CDAN1 | 15 | 0.88762214983713 | 414 | 3684 | 43017730-43017733, 43017763-43017766, 43017772-43017773, 43019912-43019914, 43021432-43021436, 43021481, 43021795-43021796, 43026506, 43028575-43028576, 43028588-43028600, 43028669-43028673, 43028688-43028699, 43028709-43028978, 43029211-43029300 |
| 298 | STRC | 15 | 0.9862987987988 | 73 | 5328 | 43897545-43897560, 43903364, 43903369, 43906411-43906422, 43908074, 43910222, 43910863-43910903 |
| 299 | STRC | 15 | 0.99664991624791 | 2 | 597 | 44002826, 44002831 |
| 300 | STRC | 15 | 0.99794871794872 | 4 | 1950 | 44007536, 44009607-44009608, 44009684 |
| 301 | SPG11 | 15 | 0.99781778505183 | 16 | 7332 | 44912487, 44955671-44955680, 44955699, 44955703-44955706 |
| 302 | DUOX2 | 15 | 0.97525285130192 | 115 | 4647 | 45403595-45403602, 45403615-45403623, 45403644-45403672, 45403696-45403742, 45403764-45403783, 45403987-45403988 |
| 303 | GATM | 15 | 0.97091194968553 | 37 | 1272 | 45668799, 45670583-45670589, 45670612-45670640 |
| 304 | FBN1 | 15 | 0.99930362116992 | 6 | 8616 | 48713755-48713760 |
| 305 | CEP152 | 15 | 0.99979859013092 | 1 | 4965 | 49036519 |
| 306 | TPM1 | 15 | 0.9953216374269 | 4 | 855 | 63336018-63336021 |
| 307 | PPIB | 15 | 0.96006144393241 | 26 | 651 | 64455105-64455128, 64455134, 64455144 |
| 308 | CLN6 | 15 | 0.91132478632479 | 83 | 936 | 68521840-68521922 |
| 309 | NR2E3 | 15 | 0.99094202898551 | 10 | 1104 | 72103141, 72103859, 72103862, 72103865-72103866, 72103870, 72103930-72103932, 72104192 |
| 310 | HEXA | 15 | 0.99874213836478 | 2 | 1590 | 72668148, 72668255 |
| 311 | HCN4 | 15 | 0.73394241417497 | 961 | 3612 | 73614834, 73614863, 73614867, 73614873-73614878, 73614885-73614886, 73614888-73614914, 73614929-73614934, 73614940, 73614971-73614977, 73614997-73615016, 73615020-73615021, 73615025-73615028, 73615086-73615087, 73615118-73615119, 73615140-73615151, 73615226, 73615274-73615278, 73615297, 73615301-73615311, 73615405-73615419, 73615510, 73615533-73615536, 73615545, 73615549, 73615564-73615568, 73615579-73615588, 73615592-73615644, 73615720-73615754, 73615769-73615776, 73615882-73615920, 73615988-73615989, 73616001, 73616031-73616053, 73616061-73616094, 73616104-73616110, 73616123-73616125, 73616152-73616171, 73616174-73616190, 73616209, 73616276-73616284, 73616458, 73617460-73617467, 73622045, 73622048, 73624537-73624547, 73660074-73660611 |
| 312 | FAH | 15 | 0.99920634920635 | 1 | 1260 | 80445455 |
| 313 | RPS17 | 15 | 0.99509803921569 | 2 | 408 | 83208849, 83208883 |
| 314 | POLG | 15 | 0.98844086021505 | 43 | 3720 | 89876612, 89876797-89876798, 89876801-89876810, 89876827-89876831, 89876833-89876840, 89876849, 89876858-89876863, 89876943-89876952 |
| 315 | MESP2 | 15 | 0.84170854271357 | 189 | 1194 | 90319726-90319732, 90319757-90319786, 90319809, 90319872, 90319877-90319888, 90319905-90319907, 90319933-90319941, 90319953-90319963, 90319966, 90319969-90320042, 90320045-90320056, 90320068, 90320072, 90320075-90320078, 90320107, 90320116-90320128, 90320132-90320134, 90320146, 90320149, 90320161, 90320177, 90320279 |
| 316 | BLM | 15 | 0.99882463563705 | 5 | 4254 | 91354490-91354494 |
| 317 | VPS33B | 15 | 0.99946062567422 | 1 | 1854 | 91565411 |
| 318 | IGF1R | 15 | 0.97417153996101 | 106 | 4104 | 99192812-99192904, 99473522-99473523, 99500550-99500554, 99500579-99500583, 99500586 |
| 319 | HBZ | 16 | 0.35664335664336 | 276 | 429 | 203891-204095, 204271-204341 |
| 320 | HBM | 16 | 0.76760563380282 | 99 | 426 | 216073-216088, 216305, 216332-216372, 216378-216415, 216431, 216434, 216452 |
| 321 | HBA2 | 16 | 0.75757575757576 | 104 | 429 | 222912-222934, 222947-222954, 222963-222997, 223156-223185, 223220-223227 |
| 322 | GNPTG | 16 | 0.96296296296296 | 34 | 918 | 1401967-1401989, 1402000, 1402003-1402008, 1402015-1402018 |
| 323 | CLCN7 | 16 | 0.93920595533499 | 147 | 2418 | 1497424, 1497434, 1497441-1497442, 1497568-1497569, 1524835-1524975 |
| 324 | IGFALS | 16 | 0.9648033126294 | 68 | 1932 | 1840607-1840611, 1840617-1840619, 1840627-1840631, 1840840, 1841130-1841131, 1841151-1841152, 1841158-1841159, 1841184-1841185, 1841457, 1841549, 1841552-1841553, 1841774, 1841828-1841830, 1842063-1842069, 1842101-1842102, 1842377-1842403, 1842432, 1843653 |
| 325 | GFER | 16 | 0.62621359223301 | 231 | 618 | 2034220-2034440, 2034460-2034468, 2035916 |
| 326 | TSC2 | 16 | 0.9983407079646 | 9 | 5424 | 2103395, 2103398, 2112558-2112561, 2121874, 2121884, 2121887 |
| 327 | PKD1 | 16 | 0.84185254027261 | 2042 | 12912 | 2139888, 2139892, 2140055, 2140062, 2140802, 2140910-2140939, 2140952-2140999, 2141063-2141175, 2141424-2141554, 2141567-2141570, 2141794-2141805, 2141815, 2141824, 2141827-2141832, 2141867-2141868, 2143048, 2147188-2147196, 2147203-2147204, 2147949, 2147968-2147985, 2149962-2149969, 2150027-2150072, 2150245-2150251, 2150470-2150484, 2150515-2150521, 2152143-2152174, 2152513-2152520, 2153290-2153307, 2153373, 2153376, 2153542-2153557, 2153592-2153598, 2153651-2153746, 2153753-2153798, 2154566-2154568, 2154578-2154643, 2155330-2155359, 2155423-2155429, 2155875-2155912, 2156018-2156025, 2156195, 2156248, 2156251, 2156265, 2156494-2156521, 2156541-2156547, 2156806-2156816, 2158253-2158276, 2158349-2158376, 2158524, 2158559-2158561, 2158595-2158624, 2158731-2158775, 2158826-2158832, 2158901-2158906, 2158910-2158911, 2158916, 2159144-2159150, 2159230, 2159233, 2159241-2159243, 2159247, 2159259-2159260, 2159394-2159409, 2159580-2159581, 2159712-2159718, 2159945-2159951, 2160451-2160475, 2160679-2160728, 2160769-2160775, 2161306, 2161317-2161322, 2161325-2161329, 2161611-2161613, 2161617, 2161624, 2161736-2161775, 2162423-2162469, 2162958-2162961, 2163172-2163185, 2163266, 2164208-2164214, 2164451, 2164588-2164594, 2164802-2164819, 2165388-2165398, 2165501-2165507, 2166037-2166043, 2166530-2166553, 2166562-2166595, 2166835-2166845, 2166891-2166922, 2166976-2166982, 2167565, 2167577, 2167580, 2167670-2167673, 2167792-2167798, 2167829-2167857, 2167871-2167877, 2167933-2167934, 2167948-2168000, 2168056-2168075, 2168124-2168199, 2168207-2168246, 2168291-2168293, 2168310-2168345, 2168352-2168414, 2168772, 2169115-2169138, 2185476-2185690 |
| 328 | ABCA3 | 16 | 0.99061583577713 | 48 | 5115 | 2328412, 2334934-2334935, 2334958-2334966, 2334973-2334977, 2334980-2334983, 2335465-2335473, 2349494-2349499, 2369650-2369661 |
| 329 | MEFV | 16 | 0.99019607843137 | 23 | 2346 | 3304509, 3304514, 3304524-3304531, 3304543, 3304638, 3304646, 3304671-3304674, 3304696-3304700, 3304740 |
| 330 | SLX4 | 16 | 0.99091734786558 | 50 | 5505 | 3632377-3632378, 3632458-3632461, 3632505-3632511, 3632522, 3632525-3632527, 3632558, 3632597-3632601, 3633272-3633278, 3633284, 3633296-3633300, 3639254-3639260, 3639266-3639267, 3647942-3647946 |
| 331 | CREBBP | 16 | 0.93246009005321 | 495 | 7329 | 3777751-3777785, 3777787, 3777796-3777803, 3777813-3777814, 3778113, 3778123, 3778127, 3778283-3778320, 3778334-3778341, 3778397-3778427, 3778440-3778464, 3778554-3778562, 3778568-3778569, 3778572-3778575, 3778578, 3778583-3778586, 3778784-3778812, 3778827-3778839, 3778895-3778897, 3778900-3778914, 3778918-3778922, 3778941-3778942, 3778945-3778947, 3778953-3778965, 3778976-3778983, 3778986-3778989, 3779013-3779022, 3779082-3779116, 3779152-3779176, 3779214, 3779217-3779237, 3779263, 3779270-3779281, 3779286-3779298, 3779343, 3779350, 3779357-3779364, 3779372-3779381, 3779403, 3779423-3779425, 3779432-3779469, 3779599, 3779767-3779769, 3929833-3929866, 3929875-3929882, 3929890, 3929916-3929917 |
| 332 | GLIS2 | 16 | 0.93396825396825 | 104 | 1575 | 4384805-4384809, 4386910-4386916, 4386985, 4386988-4386993, 4387056-4387057, 4387071-4387074, 4387114-4387143, 4387155-4387169, 4387365-4387398 |
| 333 | ALG1 | 16 | 0.93046594982079 | 97 | 1395 | 5121877, 5121913, 5128805, 5128826-5128859, 5129065-5129091, 5130959-5130975, 5131032-5131035, 5133719-5133726, 5134818, 5134880-5134882 |
| 334 | MYH11 | 16 | 0.9983164983165 | 10 | 5940 | 15811082, 15811117-15811118, 15811132-15811137, 15811153 |
| 335 | ABCC6 | 16 | 0.98714539007092 | 58 | 4512 | 16276728, 16276731-16276745, 16276749-16276751, 16313411-16313427, 16317270-16317291 |
| 336 | UMOD | 16 | 0.98647945917837 | 26 | 1923 | 20359984, 20360134-20360142, 20360152-20360160, 20360172-20360176, 20360334, 20360381 |
| 337 | OTOA | 16 | 0.99795321637427 | 7 | 3420 | 21742176-21742182 |
| 338 | COG7 | 16 | 0.99956766104626 | 1 | 2313 | 23415090 |
| 339 | PALB2 | 16 | 0.99971918000562 | 1 | 3561 | 23640588 |
| 340 | CLN3 | 16 | 0.97949886104784 | 27 | 1317 | 28497675, 28497686-28497711 |
| 341 | TUFM | 16 | 0.99122807017544 | 12 | 1368 | 28857554, 28857560-28857562, 28857573-28857580 |
| 342 | ATP2A1 | 16 | 0.99833666001331 | 5 | 3006 | 28912105, 28912144-28912147 |
| 343 | PHKG2 | 16 | 0.92219492219492 | 95 | 1221 | 30760142-30760236 |
| 344 | VKORC1 | 16 | 0.99593495934959 | 2 | 492 | 31104727, 31105955 |
| 345 | FUS | 16 | 0.99430740037951 | 9 | 1581 | 31195296, 31195307-31195313, 31195692 |
| 346 | SLC5A2 | 16 | 0.98266468548787 | 35 | 2019 | 31499712-31499715, 31499948, 31500038, 31500049-31500062, 31500065-31500078, 31501740 |
| 347 | NOD2 | 16 | 0.9919948767211 | 25 | 3123 | 50733755-50733762, 50745265-50745272, 50745393, 50745526, 50745529, 50745813-50745815, 50745819, 50745855, 50745859 |
| 348 | CYLD | 16 | 0.99965059399022 | 1 | 2862 | 50785659 |
| 349 | SALL1 | 16 | 0.98616352201258 | 55 | 3975 | 51175235-51175237, 51175249, 51175661-51175685, 51175697-51175701, 51185078-51185098 |
| 350 | MMP2 | 16 | 0.96671709531014 | 66 | 1983 | 55513407-55513415, 55513447-55513482, 55513524-55513544 |
| 351 | SLC12A3 | 16 | 0.99870675719366 | 4 | 3093 | 56899256, 56899267-56899268, 56921930 |
| 352 | COQ9 | 16 | 0.99582027168234 | 4 | 957 | 57481427, 57481430-57481432 |
| 353 | TK2 | 16 | 0.99350649350649 | 6 | 924 | 66583878-66583881, 66583886-66583887 |
| 354 | HSD11B2 | 16 | 0.7807881773399 | 267 | 1218 | 67465152-67465348, 67465372, 67465399-67465401, 67469969-67469972, 67469978-67469981, 67469992-67470001, 67470005, 67470008, 67470020-67470033, 67470043, 67470524-67470525, 67470532-67470549, 67470575, 67470666-67470669, 67470890-67470894, 67470898 |
| 355 | LCAT | 16 | 0.98866213151927 | 15 | 1323 | 67976668-67976669, 67976987-67976999 |
| 356 | CDH3 | 16 | 0.99156626506024 | 21 | 2490 | 68679566-68679571, 68679578-68679582, 68679646, 68729172-68729179, 68732167 |
| 357 | CDH1 | 16 | 0.98829747074368 | 31 | 2649 | 68771336-68771366 |
| 358 | COG8 | 16 | 0.94834148994018 | 95 | 1839 | 69364742-69364762, 69364783-69364785, 69364788, 69364794, 69364803, 69364809-69364812, 69366737-69366740, 69373079-69373101, 69373116-69373127, 69373212-69373214, 69373226-69373227, 69373230-69373237, 69373248-69373256, 69373259, 69373329-69373330 |
| 359 | HP | 16 | 0.98116298116298 | 23 | 1221 | 72093014-72093036 |
| 360 | GCSH | 16 | 0.82950191570881 | 89 | 522 | 81129740, 81129744, 81129759-81129760, 81129766, 81129770, 81129797, 81129802-81129883 |
| 361 | GAN | 16 | 0.90691192865106 | 167 | 1794 | 81348719-81348885 |
| 362 | MLYCD | 16 | 0.68960863697706 | 460 | 1482 | 83932750-83933177, 83933183-83933198, 83933201, 83933204, 83933211, 83933224-83933227, 83933238-83933241, 83933263-83933265, 83948789-83948790 |
| 363 | FOXF1 | 16 | 0.75350877192982 | 281 | 1140 | 86544176-86544241, 86544261, 86544521-86544529, 86544590, 86544594-86544611, 86544615-86544624, 86544707-86544708, 86544844-86544851, 86544855, 86544858-86544879, 86544882, 86544898-86544905, 86544912-86545005, 86545011-86545035, 86545067-86545081 |
| 364 | FOXC2 | 16 | 0.52324037184595 | 718 | 1506 | 86601020-86601026, 86601048-86601084, 86601093-86601118, 86601125-86601130, 86601134-86601136, 86601142, 86601325, 86601345-86601347, 86601365-86601367, 86601428-86601441, 86601451-86601482, 86601494-86601540, 86601567, 86601585-86601589, 86601592, 86601600-86601607, 86601613, 86601637-86601639, 86601660-86601665, 86601670, 86601675, 86601689-86602199 |
| 365 | JPH3 | 16 | 0.84557187360926 | 347 | 2247 | 87678031-87678042, 87678140-87678168, 87678316-87678319, 87723323-87723376, 87723391-87723413, 87723431-87723444, 87723471, 87723483-87723495, 87723498, 87723524-87723557, 87723596-87723607, 87723621-87723687, 87723710-87723740, 87723746-87723779, 87723965-87723970, 87723973, 87723978-87723984, 87724005-87724008 |
| 366 | CYBA | 16 | 0.81122448979592 | 111 | 588 | 88709765-88709795, 88709803-88709811, 88709822-88709828, 88709868, 88709878-88709888, 88709892-88709903, 88709926-88709927, 88709939-88709940, 88709949-88709950, 88709962-88709979, 88712585-88712590, 88712593-88712594, 88717367-88717370, 88717382, 88717386, 88717390-88717391 |
| 367 | APRT | 16 | 0.95211786372007 | 26 | 543 | 88878228-88878234, 88878289-88878307 |
| 368 | GALNS | 16 | 0.91841937539834 | 128 | 1569 | 88884453-88884458, 88884466, 88884505, 88923166-88923285 |
| 369 | SPG7 | 16 | 0.91834170854271 | 195 | 2388 | 89574826-89575008, 89598389-89598394, 89623482-89623487 |
| 370 | FANCA | 16 | 0.98305860805861 | 74 | 4368 | 89842159-89842161, 89842166-89842175, 89842192-89842197, 89842206-89842214, 89882945-89882979, 89882997, 89883013-89883014, 89883016-89883023 |
| 371 | TUBB3 | 16 | 0.92535107169254 | 101 | 1353 | 89989810-89989866, 90001689-90001719, 90001791-90001801, 90001955, 90002196 |
| 372 | PRPF8 | 17 | 0.99914383561644 | 6 | 7008 | 1577177-1577182 |
| 373 | CTNS | 17 | 0.98836242726517 | 14 | 1203 | 3560076-3560089 |
| 374 | CHRNE | 17 | 0.99122807017544 | 13 | 1482 | 4802616, 4802635-4802637, 4802764-4802769, 4806343-4806345 |
| 375 | GP1BA | 17 | 0.99010416666667 | 19 | 1920 | 4835906, 4835923, 4836233-4836238, 4837169-4837172, 4837230-4837235, 4837775 |
| 376 | ENO3 | 17 | 0.99003831417625 | 13 | 1305 | 4856174-4856185, 4858716 |
| 377 | AIPL1 | 17 | 0.99047619047619 | 11 | 1155 | 6329000-6329006, 6330003-6330006 |
| 378 | PITPNM3 | 17 | 0.89128205128205 | 318 | 2925 | 6358658-6358788, 6358794-6358834, 6358840-6358963, 6459705-6459726 |
| 379 | ACADVL | 17 | 0.97459349593496 | 50 | 1968 | 7123304-7123353 |
| 380 | CHRNB1 | 17 | 0.99601593625498 | 6 | 1506 | 7348466-7348470, 7348726 |
| 381 | MPDU1 | 17 | 0.96639784946237 | 25 | 744 | 7487253-7487264, 7490537-7490549 |
| 382 | GUCY2D | 17 | 0.83333333333333 | 552 | 3312 | 7906366-7906807, 7906821, 7906828-7906839, 7906842-7906844, 7906852, 7906858-7906872, 7906883-7906884, 7906889, 7906892-7906899, 7906912-7906932, 7906956-7906960, 7907002-7907010, 7907017, 7907083, 7907185, 7907189-7907191, 7907230, 7907233, 7907352-7907358, 7915878-7915885, 7919761-7919768, 7919845 |
| 383 | ALOX12B | 17 | 0.98433048433048 | 33 | 2106 | 7976188, 7976197-7976200, 7982721, 7982777, 7982783-7982787, 7982791-7982795, 7983106-7983108, 7984439-7984442, 7984450-7984456, 7984471, 7984475 |
| 384 | ALOXE3 | 17 | 0.95880149812734 | 88 | 2136 | 8013253-8013259, 8013273-8013275, 8013421-8013466, 8013721-8013750, 8013771-8013772 |
| 385 | HES7 | 17 | 0.3259587020649 | 457 | 678 | 8024889-8025127, 8025134-8025193, 8025199-8025233, 8025246-8025249, 8025256-8025257, 8025269-8025299, 8025303-8025340, 8025667, 8025676-8025683, 8025692-8025714, 8025729-8025744 |
| 386 | MYH8 | 17 | 0.99965600275198 | 2 | 5814 | 10302130-10302131 |
| 387 | MYH2 | 17 | 0.99313422588397 | 40 | 5826 | 10442573-10442598, 10446257-10446270 |
| 388 | MYH3 | 17 | 0.9984544049459 | 9 | 5823 | 10534928-10534935, 10534939 |
| 389 | SCO1 | 17 | 0.99668874172185 | 3 | 906 | 10600688-10600689, 10600753 |
| 390 | ELAC2 | 17 | 0.98911729141475 | 27 | 2481 | 12896189-12896197, 12898302, 12899963, 12906797-12906799, 12906810-12906819, 12921177-12921179 |
| 391 | COX10 | 17 | 0.97597597597598 | 32 | 1332 | 14095309, 14095345-14095351, 14110265, 14110454-14110476 |
| 392 | PMP22 | 17 | 0.93374741200828 | 32 | 483 | 15163967-15163993, 15164016, 15164025-15164028 |
| 393 | RAI1 | 17 | 0.96923614752666 | 176 | 5721 | 17696438, 17696448, 17696491-17696497, 17696740, 17696755, 17697097-17697104, 17697107-17697138, 17697239, 17697541, 17697611, 17697615-17697621, 17698038, 17698082-17698085, 17698088, 17698184, 17698190-17698192, 17698197, 17698208, 17698823-17698828, 17698834, 17698840-17698842, 17698875-17698880, 17699202-17699203, 17699525-17699531, 17699993-17699995, 17700573-17700574, 17700580, 17700595-17700601, 17700612-17700617, 17700923-17700970, 17701540, 17701554-17701560, 17701579-17701580, 17701586 |
| 394 | MYO15A | 17 | 0.90191635986029 | 1039 | 10593 | 18022596-18022597, 18022603-18022605, 18022608-18022628, 18023751-18023753, 18023822-18023861, 18023873, 18023879-18023921, 18023924-18023931, 18023945-18023949, 18023960, 18023975-18024688, 18024703-18024718, 18024721, 18024726-18024734, 18024742-18024747, 18024756-18024762, 18024771-18024777, 18024784-18024792, 18024800-18024803, 18024810-18024822, 18024875, 18024891, 18024894-18024900, 18024903, 18025037-18025042, 18025059, 18054824, 18057102, 18057119-18057124, 18057127, 18057131-18057155, 18057159-18057179, 18057197-18057200, 18057209-18057210, 18061090, 18061093-18061099, 18061144-18061149, 18070931-18070964 |
| 395 | ALDH3A2 | 17 | 0.99934512115259 | 1 | 1527 | 19552329 |
| 396 | UNC119 | 17 | 0.69571230982019 | 220 | 723 | 26879356-26879575 |
| 397 | NF1 | 17 | 0.98732394366197 | 108 | 8520 | 29422328-29422387, 29546063-29546094, 29556221-29556236 |
| 398 | PEX12 | 17 | 0.98518518518519 | 16 | 1080 | 33904198-33904213 |
| 399 | HNF1B | 17 | 0.9910394265233 | 15 | 1674 | 36104827-36104841 |
| 400 | TCAP | 17 | 0.99206349206349 | 4 | 504 | 37822054-37822056, 37822214 |
| 401 | KRT10 | 17 | 0.85868945868946 | 248 | 1755 | 38975098-38975104, 38975130-38975132, 38975136, 38975160-38975396 |
| 402 | KRT13 | 17 | 0.99055918663762 | 13 | 1377 | 39658738-39658741, 39658744, 39658747, 39658753-39658759 |
| 403 | KRT14 | 17 | 0.98520084566596 | 21 | 1419 | 39739499, 39739543-39739546, 39739580, 39739583, 39741304-39741309, 39742843, 39742856-39742862 |
| 404 | KRT16 | 17 | 0.93319268635724 | 95 | 1422 | 39766199, 39766265-39766281, 39768490-39768496, 39768658-39768664, 39768692-39768746, 39768765-39768772 |
| 405 | KRT17 | 17 | 0.98152424942263 | 24 | 1299 | 39776978-39776980, 39780627-39780628, 39780633, 39780637, 39780649-39780665 |
| 406 | JUP | 17 | 0.98704200178731 | 29 | 2238 | 39925817-39925845 |
| 407 | FKBP10 | 17 | 0.99714122355632 | 5 | 1749 | 39969308, 39969318, 39969359, 39969388, 39977915 |
| 408 | STAT5B | 17 | 0.99027072758037 | 23 | 2364 | 40359692, 40370275-40370278, 40371356-40371364, 40371367-40371371, 40371447-40371450 |
| 409 | STAT3 | 17 | 0.99956766104626 | 1 | 2313 | 40491372 |
| 410 | NAGLU | 17 | 0.89695340501792 | 230 | 2232 | 40688350-40688568, 40688589-40688595, 40688609-40688611, 40695114 |
| 411 | WNK4 | 17 | 0.96087888531618 | 146 | 3732 | 40932737-40932739, 40932743-40932751, 40932760-40932764, 40932791-40932793, 40932804-40932928, 40947495 |
| 412 | SOST | 17 | 0.85514018691589 | 93 | 642 | 41832756, 41832759-41832796, 41832852-41832860, 41832867-41832889, 41832899-41832915, 41832928, 41832930, 41832983-41832985 |
| 413 | NAGS | 17 | 0.87725856697819 | 197 | 1605 | 42082032-42082074, 42082081-42082123, 42082134, 42082136-42082141, 42082150-42082152, 42082166-42082167, 42082174-42082183, 42082200-42082259, 42082312-42082318, 42082322, 42082326-42082327, 42083491-42083493, 42083507-42083509, 42083544-42083547, 42083555-42083557, 42084001, 42084027-42084028, 42084033-42084035 |
| 414 | SLC4A1 | 17 | 0.9937865497076 | 17 | 2736 | 42328582-42328589, 42328592, 42328595-42328600, 42335096, 42337281 |
| 415 | GRN | 17 | 0.97081930415264 | 52 | 1782 | 42427832-42427840, 42428150-42428156, 42429102-42429104, 42429107, 42429112-42429114, 42429118-42429123, 42429569-42429570, 42429574, 42429577-42429579, 42429593, 42429728-42429731, 42429736, 42429892, 42429895, 42429898, 42429911-42429916, 42430057, 42430066 |
| 416 | ITGA2B | 17 | 0.99134615384615 | 27 | 3120 | 42452367-42452368, 42452385-42452387, 42452392-42452406, 42452415-42452421 |
| 417 | GFAP | 17 | 0.99923017705928 | 1 | 1299 | 42989121 |
| 418 | PLEKHM1 | 17 | 0.99779249448124 | 7 | 3171 | 43531632-43531638 |
| 419 | MAPT | 17 | 0.998712998713 | 3 | 2331 | 44055767, 44060774-44060775 |
| 420 | WNT3 | 17 | 0.94943820224719 | 54 | 1068 | 44846128, 44847256, 44847369-44847375, 44851042-44851043, 44851091-44851094, 44851184-44851194, 44851210-44851237 |
| 421 | ITGB3 | 17 | 0.96915927334178 | 73 | 2367 | 45331228-45331267, 45331274-45331306 |
| 422 | PNPO | 17 | 0.99745547073791 | 2 | 786 | 46019057, 46019060 |
| 423 | SGCA | 17 | 0.99914089347079 | 1 | 1164 | 48247657 |
| 424 | COL1A1 | 17 | 0.97588168373151 | 106 | 4395 | 48262892, 48263200-48263210, 48266772, 48272944, 48272949, 48272956, 48272959-48272962, 48276602-48276641, 48276669-48276688, 48276780-48276800, 48276918-48276922 |
| 425 | NOG | 17 | 0.63233190271817 | 257 | 699 | 54671585-54671600, 54671609-54671629, 54671635-54671661, 54671679-54671682, 54671706, 54671710-54671725, 54671728-54671730, 54671764-54671799, 54671823-54671917, 54672131, 54672191-54672227 |
| 426 | TRIM37 | 17 | 0.99447322970639 | 16 | 2895 | 57105901-57105905, 57105915-57105920, 57158515-57158516, 57158520-57158522 |
| 427 | AP1S2 | 17 | 0.96955128205128 | 19 | 624 | 58179917, 58180038-58180040, 58180046-58180054, 58180062-58180064, 58180079, 58180083, 58180087 |
| 428 | CA4 | 17 | 0.96698615548456 | 31 | 939 | 58227396-58227399, 58227411-58227424, 58227426, 58227429-58227430, 58227438-58227441, 58236668, 58236682-58236684, 58236692, 58236747 |
| 429 | TBX4 | 17 | 0.93406593406593 | 108 | 1638 | 59533884-59533887, 59533910-59533912, 59533919-59533928, 59533935-59533974, 59533985-59534034, 59560598 |
| 430 | ACE | 17 | 0.9191532772252 | 317 | 3921 | 61554456-61554704, 61561809-61561810, 61561844-61561848, 61568702-61568707, 61574554-61574574, 61574583-61574589, 61574597, 61574609-61574622, 61574701-61574710, 61574714-61574715 |
| 431 | SCN4A | 17 | 0.99582652876066 | 23 | 5511 | 62026111, 62026114, 62026118, 62038701-62038702, 62038725-62038726, 62038745-62038747, 62038752, 62038770-62038778, 62038789-62038791 |
| 432 | AXIN2 | 17 | 0.99763033175355 | 6 | 2532 | 63532579, 63533085, 63533450, 63533733-63533735 |
| 433 | SOX9 | 17 | 0.84901960784314 | 231 | 1530 | 70117631-70117639, 70117792, 70117942, 70118910, 70119727-70119772, 70119787-70119802, 70119928-70119929, 70119962-70119990, 70119992, 70120001-70120005, 70120015-70120018, 70120028-70120037, 70120053-70120094, 70120107-70120141, 70120229-70120236, 70120416-70120423, 70120476-70120488 |
| 434 | COG1 | 17 | 0.90553856608902 | 278 | 2943 | 71189211-71189341, 71189348-71189382, 71189391-71189445, 71189472-71189523, 71193465-71193469 |
| 435 | DNAI2 | 17 | 0.99339933993399 | 12 | 1818 | 72306208-72306219 |
| 436 | USH1G | 17 | 0.98556998556999 | 20 | 1386 | 72915877-72915880, 72915883, 72916223-72916224, 72916249, 72916473-72916479, 72916494-72916498 |
| 437 | TSEN54 | 17 | 0.88614800759013 | 180 | 1581 | 73512642-73512697, 73512827-73512855, 73512884, 73512892-73512897, 73512900-73512971, 73512984-73512985, 73517957, 73517961-73517962, 73518349-73518352, 73518368, 73519855-73519860 |
| 438 | ITGB4 | 17 | 0.95867617480344 | 226 | 5469 | 73726988, 73733689-73733694, 73733697, 73733717-73733725, 73738441-73738470, 73738770-73738778, 73738791, 73749846, 73749865, 73749873, 73749890-73749928, 73749946-73749947, 73749955-73749982, 73749988-73750030, 73750044-73750048, 73751782-73751821, 73751833-73751839, 73752851-73752852 |
| 439 | GALK1 | 17 | 0.97625106022053 | 28 | 1179 | 73761132, 73761164-73761169, 73761175-73761183, 73761185-73761187, 73761190-73761192, 73761211-73761216 |
| 440 | UNC13D | 17 | 0.98808432630614 | 39 | 3273 | 73824978-73824981, 73830757-73830760, 73830762, 73831510-73831515, 73832160, 73832292, 73832296-73832304, 73832336, 73832740-73832749, 73832775, 73836000 |
| 441 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
| 442 | GAA | 17 | 0.98286114025883 | 49 | 2859 | 78078566-78078580, 78078594-78078597, 78078699-78078715, 78078721, 78086675-78086686 |
| 443 | SGSH | 17 | 0.9403578528827 | 90 | 1509 | 78185982, 78190831-78190836, 78190849-78190853, 78194025-78194102 |
| 444 | ACTG1 | 17 | 0.9991134751773 | 1 | 1128 | 79478995 |
| 445 | FSCN2 | 17 | 0.86206896551724 | 204 | 1479 | 79495741, 79495747, 79495793-79495828, 79503788-79503815, 79503901-79503939, 79503954-79503961, 79503968-79503976, 79503998-79504065, 79504068, 79504070-79504072, 79504093-79504096, 79504100-79504105 |
| 446 | TGIF1 | 18 | 0.99917081260365 | 1 | 1206 | 3452284 |
| 447 | NDUFV2 | 18 | 0.96533333333333 | 26 | 750 | 9102762-9102787 |
| 448 | AFG3L2 | 18 | 0.9515455304929 | 116 | 2394 | 12358869, 12358872, 12376968-12377081 |
| 449 | MC2R | 18 | 0.99888143176734 | 1 | 894 | 13884865 |
| 450 | NPC1 | 18 | 0.99713317696117 | 11 | 3837 | 21166288, 21166298-21166307 |
| 451 | LAMA3 | 18 | 0.9873025394921 | 127 | 10002 | 21269648-21269664, 21269672, 21269687-21269692, 21269702-21269744, 21269750, 21269761-21269782, 21269806, 21269843, 21269853-21269860, 21269863-21269866, 21269881-21269884, 21269891, 21269900, 21269924, 21422465-21422469, 21483941-21483944, 21483947-21483953 |
| 452 | DSC3 | 18 | 0.97844667409885 | 58 | 2691 | 28622568-28622625 |
| 453 | DSC2 | 18 | 0.97450110864745 | 69 | 2706 | 28681866-28681934 |
| 454 | DSG2 | 18 | 0.98927613941019 | 36 | 3357 | 29078216-29078221, 29078223-29078252 |
| 455 | DTNA | 18 | 0.99372759856631 | 14 | 2232 | 32374111-32374124 |
| 456 | LOXHD1 | 18 | 0.97543701024714 | 163 | 6636 | 44126858-44126975, 44140048, 44140057-44140065, 44140173-44140180, 44140184, 44140246-44140258, 44140339, 44140380, 44140390-44140391, 44140402-44140406, 44140409, 44140422-44140423, 44143153 |
| 457 | MYO5B | 18 | 0.98449612403101 | 86 | 5547 | 47352944-47352980, 47373631, 47390623-47390632, 47404133-47404153, 47480729, 47721148-47721163 |
| 458 | SMAD4 | 18 | 0.95660036166365 | 72 | 1659 | 48603042-48603079, 48603085-48603118 |
| 459 | FECH | 18 | 0.98449612403101 | 20 | 1290 | 55253796-55253799, 55253803, 55253810-55253815, 55253821, 55253824-55253825, 55253839-55253844 |
| 460 | ATP8B1 | 18 | 0.99281150159744 | 27 | 3756 | 55315851, 55315857-55315861, 55328522-55328530, 55328536, 55328541, 55368506-55368515 |
| 461 | RAX | 18 | 0.71661863592699 | 295 | 1041 | 56936296-56936316, 56936336-56936341, 56936350, 56936363-56936387, 56936392-56936397, 56936421-56936424, 56936435-56936446, 56936470-56936578, 56936599, 56940160-56940173, 56940197, 56940200-56940207, 56940217-56940258, 56940266-56940276, 56940290, 56940304-56940308, 56940350-56940372, 56940377, 56940380, 56940422-56940424 |
| 462 | LMAN1 | 18 | 0.99934768427919 | 1 | 1533 | 57026361 |
| 463 | CCBE1 | 18 | 0.90827190827191 | 112 | 1221 | 57133991, 57134046-57134080, 57134086-57134122, 57364505-57364532, 57364553-57364563 |
| 464 | TNFRSF11A | 18 | 0.91734197730956 | 153 | 1851 | 59992586-59992660, 60021738-60021741, 60035961-60035972, 60052079-60052083, 60052086-60052101, 60052105-60052108, 60052133, 60052147-60052149, 60052175, 60052178, 60052185-60052192, 60052221-60052243 |
| 465 | CTDP1 | 18 | 0.8995148995149 | 290 | 2886 | 77439956-77440215, 77440227, 77440230-77440231, 77440236-77440244, 77474651-77474657, 77475095-77475102, 77496466-77496468 |
| 466 | ELANE | 19 | 0.76616915422886 | 188 | 804 | 852879-852916, 853029, 853262-853403, 856146-856151, 856160 |
| 467 | KISS1R | 19 | 0.56223893065998 | 524 | 1197 | 917521-917522, 917547, 917557-917566, 917575-917621, 917636-917639, 917644-917654, 917659, 917668-917683, 917689-917737, 918544-918560, 918567-918582, 918600-918668, 919946, 919960-919962, 919967, 919970, 919974-919975, 920023, 920046-920049, 920075-920103, 920290-920463, 920499-920504, 920542-920548, 920567-920604, 920638-920640, 920642, 920645, 920663, 920667-920668, 920700-920704, 920731 |
| 468 | STK11 | 19 | 0.9815668202765 | 24 | 1302 | 1207031, 1226594-1226599, 1226608-1226621, 1226644-1226646 |
| 469 | NDUFS7 | 19 | 0.92990654205607 | 45 | 642 | 1388535-1388579 |
| 470 | GAMT | 19 | 0.84074074074074 | 129 | 810 | 1401295-1401299, 1401304-1401307, 1401310-1401320, 1401339-1401358, 1401387-1401475 |
| 471 | RAX2 | 19 | 0.9009009009009 | 55 | 555 | 3770624-3770631, 3770636, 3770652, 3770659, 3770676, 3770685, 3770700, 3770751-3770753, 3770758, 3770761-3770794, 3770821, 3770924-3770925 |
| 472 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 473 | TUBB4 | 19 | 0.97378277153558 | 35 | 1335 | 6495432, 6495572, 6495627-6495631, 6495633, 6495641, 6495647-6495649, 6495654-6495658, 6495661-6495662, 6495666-6495670, 6502192-6502198, 6502201-6502204 |
| 474 | C3 | 19 | 0.98737980769231 | 63 | 4992 | 6707087-6707091, 6707104-6707121, 6707145-6707151, 6707222, 6707234-6707242, 6707255, 6707258, 6707261, 6709715, 6709723-6709739, 6709751-6709752 |
| 475 | INSR | 19 | 0.98023620149434 | 82 | 4149 | 7184603, 7293822-7293902 |
| 476 | MCOLN1 | 19 | 0.99082042455536 | 16 | 1743 | 7587653-7587654, 7595265-7595270, 7598504-7598511 |
| 477 | PNPLA6 | 19 | 0.99046184738956 | 38 | 3984 | 7600876, 7614890-7614897, 7615248, 7615903, 7615910-7615911, 7615916, 7615934, 7615947, 7619939-7619953, 7620626-7620632 |
| 478 | STXBP2 | 19 | 0.95959595959596 | 72 | 1782 | 7702040-7702046, 7702049-7702052, 7702055-7702072, 7706675-7706676, 7706681-7706684, 7706688, 7706693-7706695, 7706709, 7706712, 7707117-7707123, 7707911-7707934 |
| 479 | ADAMTS10 | 19 | 0.97554347826087 | 81 | 3312 | 8649820, 8649897, 8649927, 8649937-8649938, 8650023-8650033, 8650039-8650041, 8650081-8650087, 8650096-8650114, 8650118-8650122, 8650132, 8650136-8650142, 8650175-8650177, 8650393, 8650426, 8650461-8650464, 8654148, 8654187, 8660737-8660739, 8669912, 8669916, 8670105, 8670132-8670137 |
| 480 | TYK2 | 19 | 0.98260381593715 | 62 | 3564 | 10463145, 10463150, 10463634-10463643, 10463646, 10463653, 10463656, 10463759, 10464204-10464244, 10489024, 10489033-10489036 |
| 481 | DNM2 | 19 | 0.93685419058553 | 165 | 2613 | 10828919-10829079, 10939792-10939794, 10940880 |
| 482 | LDLR | 19 | 0.97677119628339 | 60 | 2583 | 11200225-11200241, 11200249-11200291 |
| 483 | PRKCSH | 19 | 0.98298676748582 | 27 | 1587 | 11546950-11546955, 11558341-11558349, 11558370, 11558376-11558382, 11558385, 11558388, 11559968-11559969 |
| 484 | MAN2B1 | 19 | 0.96805006587615 | 97 | 3036 | 12758098-12758130, 12758350-12758354, 12758363, 12758386-12758387, 12758393-12758394, 12758397, 12759062-12759071, 12759077-12759096, 12759101-12759104, 12768260-12768263, 12768286-12768292, 12768306, 12768310, 12777385-12777386, 12777396, 12777423-12777424, 12777483 |
| 485 | GCDH | 19 | 0.99772209567198 | 3 | 1317 | 13002147, 13002151, 13007101 |
| 486 | CACNA1A | 19 | 0.82382661880069 | 1325 | 7521 | 13318128, 13318161-13318867, 13319575-13319576, 13319597-13319599, 13319602-13319608, 13319617-13319625, 13319628-13319631, 13319647-13319649, 13319690-13319726, 13325383-13325386, 13409371-13409377, 13409420, 13409459-13409468, 13409475-13409485, 13409491-13409497, 13409508-13409662, 13409673, 13409676-13409680, 13409687-13409694, 13409700-13409709, 13409755, 13409758-13409759, 13409770-13409778, 13409782, 13409791, 13409807-13409815, 13409824, 13409883-13409908, 13414392-13414399, 13616746-13616747, 13616756-13616771, 13616782-13617038 |
| 487 | NOTCH3 | 19 | 0.90496698248636 | 662 | 6966 | 15271867-15271877, 15271885-15271894, 15271910-15271912, 15272007-15272013, 15272068, 15272131, 15272136, 15272146, 15272158, 15272162, 15272170, 15272173, 15272198-15272247, 15272495, 15276693, 15276711-15276713, 15276733, 15281156-15281159, 15281166-15281171, 15281187, 15281193-15281195, 15281303-15281308, 15281319-15281331, 15281348-15281358, 15281361, 15281363, 15281482-15281490, 15281511, 15281526-15281528, 15285091, 15285099, 15288340, 15288343, 15288378-15288420, 15288484-15288491, 15288514-15288563, 15288569-15288759, 15288777-15288784, 15288786-15288792, 15288795-15288867, 15288880-15288891, 15288898, 15295743, 15298798-15298800, 15299945, 15311611-15311716 |
| 488 | CYP4F22 | 19 | 0.99937343358396 | 1 | 1596 | 15636339 |
| 489 | JAK3 | 19 | 0.93866666666667 | 207 | 3375 | 17940917-17940971, 17940977-17940991, 17941314-17941316, 17941321, 17941324-17941326, 17941332-17941335, 17941352-17941358, 17941363-17941399, 17942160, 17942163, 17942203-17942209, 17945494-17945499, 17945501-17945506, 17953152, 17953156, 17953203, 17953206, 17953253-17953255, 17953279-17953283, 17953336, 17953852-17953899 |
| 490 | SLC5A5 | 19 | 0.96221532091097 | 73 | 1932 | 17983369, 17984948-17985003, 17994519-17994533, 18004667 |
| 491 | IL12RB1 | 19 | 0.99949723479135 | 1 | 1989 | 18170758 |
| 492 | COMP | 19 | 0.81750219876869 | 415 | 2274 | 18896483-18896511, 18896541-18896543, 18896546-18896547, 18896554-18896558, 18896561-18896565, 18896775-18896794, 18898411-18898435, 18899041, 18899065-18899072, 18899115-18899128, 18899226-18899233, 18899259-18899262, 18899276-18899279, 18899303-18899323, 18899405-18899406, 18899441, 18899445, 18899457-18899460, 18899470-18899487, 18899497-18899513, 18899516, 18900017-18900066, 18900074-18900089, 18900754-18900762, 18900772-18900774, 18900786-18900790, 18900793-18900824, 18900828-18900834, 18900853-18900892, 18900903-18900923, 18901660-18901698 |
| 493 | CEBPA | 19 | 0.25069637883008 | 807 | 1077 | 33792328, 33792345, 33792507-33792509, 33792519-33793320 |
| 494 | SCN1B | 19 | 0.93804213135068 | 50 | 807 | 35521725-35521764, 35524760-35524761, 35524764-35524771 |
| 495 | MAG | 19 | 0.98511430090377 | 28 | 1881 | 35790572-35790576, 35790619, 35790634-35790638, 35790641, 35790666-35790670, 35790676, 35790748-35790753, 35791128-35791130, 35791137 |
| 496 | COX6B1 | 19 | 0.96551724137931 | 9 | 261 | 36149528-36149536 |
| 497 | PRODH2 | 19 | 0.99689633767846 | 5 | 1611 | 36303320, 36303324-36303327 |
| 498 | NPHS1 | 19 | 0.9801395598497 | 74 | 3726 | 36336310-36336313, 36336326-36336327, 36336331, 36336341-36336343, 36336594, 36336598, 36336607-36336614, 36336620-36336621, 36336637, 36336642-36336643, 36336649-36336650, 36336659-36336663, 36336910-36336928, 36336931, 36337063-36337070, 36339571, 36339575-36339581, 36339592, 36339603-36339607 |
| 499 | SDHAF1 | 19 | 0.81609195402299 | 64 | 348 | 36486185-36486214, 36486229-36486234, 36486237, 36486262, 36486348-36486351, 36486359, 36486402-36486408, 36486432-36486436, 36486443-36486451 |
| 500 | WDR62 | 19 | 0.99759405074366 | 11 | 4572 | 36545998, 36546016-36546025 |
| 501 | RYR1 | 19 | 0.95905272210095 | 619 | 15117 | 38931406-38931410, 38931459-38931461, 38931468, 38931471, 38943486-38943488, 38943646, 38943652, 38954489, 38976368-38976373, 38976657-38976676, 38976698-38976716, 38976776, 38976789, 38987501-38987502, 38987508-38987510, 38987515-38987517, 38987524-38987533, 38989748-38989751, 38990346-38990347, 38990438, 38990452-38990453, 38990649, 38993169-38993173, 38993179-38993185, 38993197, 38998415-38998423, 38998428, 38998436, 39008205, 39008210-39008212, 39008216-39008218, 39008229, 39008235-39008238, 39008256, 39010001, 39013679-39013681, 39013698, 39037100, 39037107-39037128, 39055632-39055636, 39055735-39055742, 39055749-39055750, 39055759-39056178, 39056211, 39056213-39056220, 39056227-39056230, 39056290, 39056299-39056300, 39056308-39056311, 39056391-39056394, 39062697-39062698, 39068687, 39075651 |
| 502 | ACTN4 | 19 | 0.97295321637427 | 74 | 2736 | 39138413, 39138416, 39138421-39138425, 39138435-39138437, 39138482, 39138501-39138508, 39138511-39138539, 39138543, 39214351, 39214620-39214621, 39214630-39214632, 39214635, 39214646-39214650, 39214707, 39214797-39214799, 39214858-39214863, 39216471, 39216476, 39217612 |
| 503 | DLL3 | 19 | 0.87129779213786 | 239 | 1857 | 39989846-39989850, 39989996-39990004, 39993503-39993529, 39993541-39993547, 39993552-39993587, 39993603, 39993611-39993617, 39993641-39993642, 39993649-39993651, 39993654-39993658, 39993660, 39993666-39993667, 39997720, 39997791, 39997800-39997801, 39997813-39997817, 39997822, 39997826, 39997836-39997922, 39997942-39997944, 39997947-39997948, 39997952, 39997998-39998014, 39998017-39998018, 39998025-39998026, 39998072-39998073, 39998088-39998089, 39998119, 39998172-39998175 |
| 504 | PRX | 19 | 0.95918832649339 | 179 | 4386 | 40900175-40900206, 40900523-40900539, 40901323-40901328, 40903081, 40903408, 40903411, 40903694-40903700, 40909613-40909614, 40909625-40909634, 40909640-40909641, 40909644-40909647, 40909656, 40909661-40909664, 40909679-40909769 |
| 505 | TGFB1 | 19 | 0.92412617220801 | 89 | 1173 | 41837046, 41837049-41837050, 41837054, 41837061, 41837065-41837069, 41837072, 41838165-41838166, 41838170, 41838173, 41848090-41848096, 41858615, 41858631-41858632, 41858653, 41858656, 41858662, 41858692-41858695, 41858716-41858717, 41858747-41858752, 41858761-41858769, 41858873-41858876, 41858885-41858903, 41858910, 41858917, 41858920-41858921, 41858925-41858933, 41858941-41858944 |
| 506 | BCKDHA | 19 | 0.99551569506726 | 6 | 1338 | 41903788, 41903791, 41903800-41903802, 41916851 |
| 507 | ATP1A3 | 19 | 0.9336595976074 | 244 | 3678 | 42470944, 42470947, 42470964-42471004, 42471013-42471053, 42471079-42471110, 42471230-42471233, 42471323-42471378, 42471387, 42479813, 42479830-42479835, 42479839, 42480568-42480595, 42480599-42480600, 42480616-42480617, 42480623, 42480626, 42480653-42480673, 42480705-42480708 |
| 508 | ETHE1 | 19 | 0.9843137254902 | 12 | 765 | 44012161-44012167, 44031270-44031273, 44031280 |
| 509 | BCAM | 19 | 0.92315845257022 | 145 | 1887 | 45312384-45312448, 45316570-45316571, 45323964, 45323968, 45324001-45324047, 45324057-45324079, 45324173-45324178 |
| 510 | APOE | 19 | 0.68658280922432 | 299 | 954 | 45411870-45411909, 45411930-45412020, 45412031-45412055, 45412088-45412093, 45412099-45412109, 45412129-45412184, 45412193-45412226, 45412244-45412245, 45412248-45412255, 45412268, 45412282-45412284, 45412287, 45412350, 45412353-45412358, 45412365, 45412368-45412379, 45412489 |
| 511 | BLOC1S3 | 19 | 0.59770114942529 | 245 | 609 | 45682576-45682578, 45682583, 45682594-45682608, 45682611-45682615, 45682691, 45682778, 45682784-45682787, 45682795, 45682804-45682805, 45682811, 45682814-45682819, 45682828-45682991, 45683000-45683003, 45683014-45683018, 45683030-45683035, 45683044, 45683055, 45683058-45683066, 45683078-45683082, 45683087-45683096 |
| 512 | ERCC2 | 19 | 0.98904949627683 | 25 | 2283 | 45867005, 45867014, 45867051, 45867057-45867058, 45867106, 45867149-45867150, 45867283-45867288, 45873394, 45873399-45873404, 45873407, 45873429, 45873489-45873490 |
| 513 | OPA3 | 19 | 0.96132596685083 | 21 | 543 | 46032395-46032408, 46032419-46032425 |
| 514 | SIX5 | 19 | 0.74414414414414 | 568 | 2220 | 46269104-46269110, 46269312-46269313, 46270019, 46270147, 46270153, 46270159, 46270162, 46271339-46271342, 46271396-46271399, 46271455-46271462, 46271545-46271557, 46271563-46271642, 46271653-46271721, 46271727-46272102 |
| 515 | DMPK | 19 | 0.91587301587302 | 159 | 1890 | 46273769, 46273782, 46273800, 46273828, 46274246-46274266, 46274270-46274271, 46274275, 46274282-46274286, 46281860-46281862, 46285460, 46285479, 46285490-46285610 |
| 516 | FKRP | 19 | 0.68951612903226 | 462 | 1488 | 47258710-47258713, 47258724-47258728, 47258737-47258738, 47258811, 47258814, 47258823, 47258838, 47258842, 47259010-47259028, 47259038-47259062, 47259069-47259116, 47259128-47259137, 47259149, 47259152-47259157, 47259160-47259180, 47259192-47259193, 47259198, 47259202-47259209, 47259219-47259221, 47259234, 47259261, 47259270-47259271, 47259276-47259302, 47259315-47259317, 47259321-47259323, 47259341-47259377, 47259384, 47259395-47259464, 47259477-47259491, 47259497-47259513, 47259520-47259563, 47259574-47259578, 47259588, 47259593-47259594, 47259613-47259629, 47259639, 47259643-47259645, 47259653-47259660, 47259666-47259669, 47259674-47259679, 47259683, 47259719, 47259728, 47259738-47259739, 47259754-47259756, 47259834, 47260046-47260057, 47260132, 47260143-47260154 |
| 517 | CRX | 19 | 0.96777777777778 | 29 | 900 | 48342627-48342649, 48342658-48342663 |
| 518 | DBP | 19 | 0.60633946830266 | 385 | 978 | 49138837-49139155, 49139181, 49139211-49139235, 49140154-49140161, 49140188-49140219 |
| 519 | FTL | 19 | 0.98674242424242 | 7 | 528 | 49469566-49469572 |
| 520 | GYS1 | 19 | 0.99774164408311 | 5 | 2214 | 49472669, 49473870-49473873 |
| 521 | MED25 | 19 | 0.96212121212121 | 85 | 2244 | 50321620-50321622, 50321636, 50333166-50333171, 50333768-50333771, 50333775-50333777, 50333781, 50333794-50333796, 50333802-50333808, 50334095-50334099, 50334102-50334111, 50334126-50334128, 50334134-50334140, 50335405, 50335408-50335414, 50338428-50338429, 50339521-50339525, 50339539-50339555 |
| 522 | PNKP | 19 | 0.95785440613027 | 66 | 1566 | 50364865-50364866, 50364876-50364882, 50364884, 50365103, 50365119, 50365346-50365347, 50365361-50365362, 50365628-50365634, 50365651, 50365828-50365832, 50365838, 50365842-50365854, 50365865, 50365947-50365968 |
| 523 | MYH14 | 19 | 0.96236295205367 | 230 | 6111 | 50713649-50713680, 50713710, 50713713, 50713718-50713722, 50713727-50713729, 50714019, 50747535, 50753772, 50753887, 50764829-50764877, 50766584-50766585, 50770178-50770199, 50770210-50770262, 50780104-50780106, 50780111-50780144, 50780147-50780148, 50780155-50780156, 50789925-50789927, 50813003-50813016 |
| 524 | KCNC3 | 19 | 0.51407211961302 | 1105 | 2274 | 50823503-50823606, 50823935-50823941, 50824012-50824016, 50826343-50826430, 50826441-50826500, 50826546, 50826554, 50826563-50826566, 50831470-50831751, 50831761-50832066, 50832081-50832088, 50832091, 50832102-50832339 |
| 525 | KLK4 | 19 | 0.98692810457516 | 10 | 765 | 51412590-51412598, 51412666 |
| 526 | ETFB | 19 | 0.9971181556196 | 3 | 1041 | 51856413, 51857449, 51857576 |
| 527 | NLRP12 | 19 | 0.99435028248588 | 18 | 3186 | 54313623-54313624, 54313658-54313668, 54314102, 54314105, 54314387-54314389 |
| 528 | PRKCG | 19 | 0.91547277936963 | 177 | 2094 | 54385749-54385803, 54385820, 54385848, 54385851-54385855, 54385859-54385862, 54385865-54385868, 54385873-54385874, 54385890-54385918, 54392919-54392923, 54392929, 54392947-54392955, 54392967, 54392994-54392996, 54393145-54393148, 54393151, 54393158-54393168, 54393177-54393180, 54393188, 54393193, 54393198-54393204, 54393215-54393227, 54393234, 54393237-54393242, 54393249, 54401315-54401319, 54401819, 54401822 |
| 529 | PRPF31 | 19 | 0.99933333333333 | 1 | 1500 | 54631683 |
| 530 | TSEN34 | 19 | 0.85101822079314 | 139 | 933 | 54695241-54695284, 54695316-54695410 |
| 531 | NLRP7 | 19 | 0.98715478484265 | 40 | 3114 | 55445042-55445066, 55450947-55450954, 55450964-55450967, 55450976-55450978 |
| 532 | TNNT1 | 19 | 0.92141951837769 | 62 | 789 | 55652273, 55652302, 55657802-55657834, 55658049-55658075 |
| 533 | TNNI3 | 19 | 0.9688013136289 | 19 | 609 | 55667583, 55667586-55667593, 55667603, 55667617-55667622, 55667691-55667693 |
| 534 | TPO | 2 | 0.93540328336902 | 181 | 2802 | 1480858, 1480863, 1480880-1480881, 1480904-1480909, 1480922, 1480933-1481000, 1481011-1481041, 1481155, 1481164-1481171, 1481174, 1481194-1481197, 1481213-1481218, 1481225, 1481231-1481232, 1481256-1481294, 1481315-1481321, 1481375, 1488538 |
| 535 | RPS7 | 2 | 0.8974358974359 | 60 | 585 | 3623200-3623217, 3623224-3623265 |
| 536 | KLF11 | 2 | 0.97270955165692 | 42 | 1539 | 10183844-10183885 |
| 537 | LPIN1 | 2 | 0.99738121960344 | 7 | 2673 | 11911631, 11911803-11911804, 11922538, 11928573, 11955322, 11955331 |
| 538 | MYCN | 2 | 0.75627240143369 | 340 | 1395 | 16082349, 16082390-16082402, 16082407, 16082420-16082425, 16082449-16082456, 16082461-16082462, 16082553-16082595, 16082641-16082846, 16082872-16082924, 16082931-16082937 |
| 539 | MATN3 | 2 | 0.87132101300479 | 188 | 1461 | 20212205-20212392 |
| 540 | APOB | 2 | 0.99401110137306 | 82 | 13692 | 21266736-21266817 |
| 541 | POMC | 2 | 0.81592039800995 | 148 | 804 | 25384122-25384165, 25384172-25384187, 25384343, 25384358, 25384367, 25384376, 25384403-25384415, 25384425-25384495 |
| 542 | OTOF | 2 | 0.96162829496163 | 230 | 5994 | 26682960-26682962, 26684767-26684774, 26690265, 26696968-26696970, 26697383, 26697386-26697387, 26697400, 26697412-26697417, 26697420-26697422, 26699759-26699911, 26700053, 26700056-26700061, 26700103-26700109, 26700115-26700139, 26702449-26702452, 26702458-26702461, 26712607-26712608 |
| 543 | EIF2B4 | 2 | 0.97916666666667 | 34 | 1632 | 27592832-27592865 |
| 544 | C2orf71 | 2 | 0.9896560641324 | 40 | 3867 | 29293659-29293691, 29293910, 29294045-29294047, 29294050, 29294053, 29294321 |
| 545 | ALK | 2 | 0.98827884022209 | 57 | 4863 | 29451753, 29451778, 30143315, 30143410-30143451, 30143489-30143495, 30143499, 30143504-30143507 |
| 546 | XDH | 2 | 0.99975012493753 | 1 | 4002 | 31604518 |
| 547 | SRD5A2 | 2 | 0.96719160104987 | 25 | 762 | 31805706, 31805923-31805929, 31805935-31805940, 31805951-31805961 |
| 548 | SPAST | 2 | 0.80226904376013 | 366 | 1851 | 32288904-32288942, 32288963, 32288990-32289315 |
| 549 | CYP1B1 | 2 | 0.86580882352941 | 219 | 1632 | 38301934-38301939, 38301943, 38301950-38301956, 38301961-38301963, 38301965-38301973, 38301980-38301998, 38302014-38302026, 38302035-38302047, 38302051-38302058, 38302086-38302110, 38302119-38302155, 38302164-38302168, 38302176-38302184, 38302188-38302217, 38302224-38302233, 38302240, 38302248, 38302251-38302252, 38302258, 38302378, 38302386-38302389, 38302415-38302421, 38302470-38302476 |
| 550 | SOS1 | 2 | 0.99975012493753 | 1 | 4002 | 39347556 |
| 551 | ABCG5 | 2 | 0.99948875255624 | 1 | 1956 | 44058985 |
| 552 | LRPPRC | 2 | 0.99761051373955 | 10 | 4185 | 44223010, 44223013, 44223047-44223048, 44223057-44223062 |
| 553 | SIX3 | 2 | 0.82582582582583 | 174 | 999 | 45169297, 45169333-45169347, 45169357-45169374, 45169386-45169452, 45169456-45169459, 45169527, 45169535-45169536, 45169571-45169576, 45169579-45169584, 45169631, 45169634, 45169642-45169657, 45169784, 45169792, 45171739, 45171752-45171754, 45171763-45171765, 45171771-45171777, 45171786-45171795, 45171801-45171805, 45171825, 45171836, 45171840-45171842 |
| 554 | EPCAM | 2 | 0.96613756613757 | 32 | 945 | 47596645, 47596648-47596650, 47596656-47596671, 47596679, 47596681, 47596686-47596690, 47596700-47596701, 47596705, 47596709, 47601089 |
| 555 | MSH2 | 2 | 0.99857397504456 | 4 | 2805 | 47630476, 47635540, 47702408-47702409 |
| 556 | MSH6 | 2 | 0.94072985549841 | 242 | 4083 | 48010373-48010614 |
| 557 | LHCGR | 2 | 0.97333333333333 | 56 | 2100 | 48982675-48982679, 48982690-48982692, 48982695, 48982699, 48982733-48982777, 48982789 |
| 558 | NRXN1 | 2 | 0.97943502824859 | 91 | 4425 | 50149312, 50170902-50170908, 50765570-50765572, 51254766-51254768, 51254840-51254846, 51254913-51254919, 51254941-51254948, 51255060-51255063, 51255066, 51255095-51255096, 51255099, 51255114-51255117, 51255262, 51255266-51255272, 51255317, 51255320, 51255323, 51255329-51255341, 51255355-51255356, 51255385-51255401 |
| 559 | EFEMP1 | 2 | 0.98313090418354 | 25 | 1482 | 56094274, 56144947, 56144951-56144962, 56144965-56144975 |
| 560 | FANCL | 2 | 0.99024822695035 | 11 | 1128 | 58392974-58392975, 58392982-58392985, 58392997-58393001 |
| 561 | ATP6V1B1 | 2 | 0.99805447470817 | 3 | 1542 | 71163086, 71163132-71163133 |
| 562 | DYSF | 2 | 0.99481132075472 | 33 | 6360 | 71693974, 71693977-71693986, 71694023-71694038, 71753427, 71753430-71753431, 71753445-71753447 |
| 563 | SPR | 2 | 0.64631043256997 | 278 | 786 | 73114562-73114839 |
| 564 | ALMS1 | 2 | 0.99088291746641 | 114 | 12504 | 73612997-73613074, 73613087-73613097, 73613100, 73613112, 73613116, 73613245, 73613248, 73613295, 73613299, 73786119-73786128, 73827996-73828002, 73828342 |
| 565 | SLC4A5 | 2 | 0.99355594610428 | 22 | 3414 | 74466660-74466661, 74480145-74480155, 74513007-74513011, 74513016-74513019 |
| 566 | DCTN1 | 2 | 0.99661193640865 | 13 | 3837 | 74590190, 74590193, 74590481, 74593676, 74593679, 74598106-74598107, 74598122-74598127 |
| 567 | MOGS | 2 | 0.97454256165473 | 64 | 2514 | 74689008-74689009, 74690127, 74692113-74692116, 74692120-74692142, 74692144, 74692146, 74692151-74692158, 74692168, 74692171, 74692270, 74692282-74692285, 74692295-74692298, 74692344, 74692347-74692349, 74692352-74692360 |
| 568 | HTRA2 | 2 | 0.88453159041394 | 159 | 1377 | 74757134-74757146, 74757165-74757210, 74757258, 74757261, 74757266, 74757350-74757356, 74757382-74757425, 74757436-74757468, 74757513-74757517, 74757523, 74757526-74757532 |
| 569 | SUCLG1 | 2 | 0.99519692603266 | 5 | 1041 | 84686318-84686321, 84686329 |
| 570 | GGCX | 2 | 0.98550724637681 | 33 | 2277 | 85781414-85781423, 85788512-85788514, 85788519-85788536, 85788545-85788546 |
| 571 | SFTPB | 2 | 0.9869109947644 | 15 | 1146 | 85889202, 85895260-85895266, 85895270-85895276 |
| 572 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
| 573 | EIF2AK3 | 2 | 0.95344673231871 | 156 | 3351 | 88876162-88876165, 88926488-88926492, 88926502-88926503, 88926527-88926528, 88926531, 88926553, 88926560-88926564, 88926604, 88926609-88926610, 88926618-88926671, 88926674, 88926688-88926689, 88926692-88926700, 88926706-88926742, 88926749-88926771, 88926777-88926783 |
| 574 | TMEM127 | 2 | 0.91073919107392 | 64 | 717 | 96930911, 96930917, 96930968-96930971, 96930974, 96930995-96930999, 96931005-96931009, 96931023-96931027, 96931078-96931119 |
| 575 | SNRNP200 | 2 | 0.99859616284511 | 9 | 6411 | 96955086-96955094 |
| 576 | ZAP70 | 2 | 0.97204301075269 | 52 | 1860 | 98340750-98340753, 98340758-98340761, 98340767-98340769, 98340773-98340775, 98340799, 98340808-98340842, 98340854, 98340886 |
| 577 | RANBP2 | 2 | 0.97509043927649 | 241 | 9675 | 109336079-109336085, 109347317-109347341, 109357110-109357116, 109365376, 109367751-109367757, 109368104-109368111, 109371399, 109371656-109371662, 109374869-109374872, 109378557, 109382787-109382793, 109382914-109382943, 109383268-109383274, 109383315-109383321, 109383761-109383798, 109383885-109383891, 109384146-109384170, 109384284-109384320, 109384469, 109384628-109384634, 109399230-109399236 |
| 578 | MERTK | 2 | 0.97966666666667 | 61 | 3000 | 112656313-112656373 |
| 579 | PAX8 | 2 | 0.99778270509978 | 3 | 1353 | 113994285-113994287 |
| 580 | GLI2 | 2 | 0.87649653434152 | 588 | 4761 | 121555024, 121555044, 121712935, 121726320, 121726323, 121728019, 121728028, 121728037, 121728153, 121729632-121729633, 121729636-121729638, 121742257, 121745817, 121745820-121745832, 121745851-121745852, 121745903, 121745906-121745907, 121745910-121745911, 121745922-121745925, 121746030-121746034, 121746047-121746560, 121746661, 121746696-121746702, 121746810-121746815, 121746818, 121746823-121746830, 121747619, 121747622-121747626 |
| 581 | BIN1 | 2 | 0.98989898989899 | 18 | 1782 | 127808409, 127808413-127808416, 127808419-127808420, 127808779, 127811569-127811572, 127816613-127816617, 127816630 |
| 582 | PROC | 2 | 0.87734487734488 | 170 | 1386 | 128178932, 128178945, 128180493-128180517, 128180610-128180747, 128180884, 128180888, 128180944-128180946 |
| 583 | CFC1 | 2 | 0.6860119047619 | 211 | 672 | 131279068-131279080, 131279672, 131280363-131280477, 131280762-131280765, 131280774-131280781, 131280789, 131280809-131280846, 131285303-131285332, 131285378 |
| 584 | LCT | 2 | 0.99913554633472 | 5 | 5784 | 136575543, 136575555-136575558 |
| 585 | MCM6 | 2 | 0.99716139497161 | 7 | 2466 | 136633897, 136633900-136633905 |
| 586 | ZEB2 | 2 | 0.97997256515775 | 73 | 3645 | 145274845-145274917 |
| 587 | NEB | 2 | 0.99919895864624 | 16 | 19974 | 152417752, 152417806, 152432773-152432782, 152432842, 152467346-152467348 |
| 588 | CACNB4 | 2 | 0.98784388995521 | 19 | 1563 | 152955467-152955468, 152955471, 152955477-152955480, 152955498, 152955506-152955509, 152955515, 152955520-152955525 |
| 589 | ACVR1 | 2 | 0.99934640522876 | 1 | 1530 | 158617418 |
| 590 | SCN2A | 2 | 0.99069458291791 | 56 | 6018 | 166237623-166237671, 166245227-166245233 |
| 591 | SCN1A | 2 | 0.99883274970819 | 7 | 5997 | 166848838-166848844 |
| 592 | ITGA6 | 2 | 0.94444444444444 | 182 | 3276 | 173292517-173292698 |
| 593 | CHN1 | 2 | 0.99565217391304 | 6 | 1380 | 175779842, 175869636-175869640 |
| 594 | HOXD13 | 2 | 0.68023255813953 | 330 | 1032 | 176957619-176957858, 176957871-176957873, 176957882-176957884, 176957899, 176957918-176957988, 176957994-176958003, 176958131, 176958155 |
| 595 | AGPS | 2 | 0.96105209914011 | 77 | 1977 | 178257518-178257534, 178257554-178257570, 178257580-178257621, 178257642 |
| 596 | PRKRA | 2 | 0.97452229299363 | 24 | 942 | 179315693-179315710, 179315714, 179315717-179315718, 179315726, 179315756-179315757 |
| 597 | TTN | 2 | 0.99955111323917 | 45 | 100248 | 179392333-179392338, 179392350, 179392358, 179419427-179419430, 179446849-179446854, 179447811-179447814, 179447817, 179466410-179466413, 179598578-179598595 |
| 598 | CERKL | 2 | 0.99499687304565 | 8 | 1599 | 182521610-182521611, 182521614, 182521619-182521623 |
| 599 | COL3A1 | 2 | 0.9959100204499 | 18 | 4401 | 189860465-189860467, 189871663-189871676, 189872614 |
| 600 | COL5A2 | 2 | 0.99977777777778 | 1 | 4500 | 189910583 |
| 601 | SLC40A1 | 2 | 0.9988344988345 | 2 | 1716 | 190445177-190445178 |
| 602 | STAT1 | 2 | 0.994229915668 | 13 | 2253 | 191859826-191859827, 191859830, 191859879-191859880, 191859897-191859898, 191859904-191859909 |
| 603 | ALS2 | 2 | 0.9961801367109 | 19 | 4974 | 202568885-202568897, 202622410, 202622431-202622433, 202626389-202626390 |
| 604 | NDUFS1 | 2 | 0.98855311355311 | 25 | 2184 | 206997805-206997829 |
| 605 | CPS1 | 2 | 0.99911170330891 | 4 | 4503 | 211455567-211455570 |
| 606 | ABCA12 | 2 | 0.99922958397535 | 6 | 7788 | 215797408-215797412, 215797421 |
| 607 | SMARCAL1 | 2 | 0.99930191972077 | 2 | 2865 | 217297467-217297468 |
| 608 | PNKD | 2 | 0.98445595854922 | 18 | 1158 | 219204556-219204562, 219204568-219204571, 219204595-219204601 |
| 609 | WNT10A | 2 | 0.86044657097289 | 175 | 1254 | 219745719-219745721, 219745727, 219745731, 219745750-219745758, 219745767, 219745774-219745777, 219745791-219745796, 219745807-219745822, 219757588-219757589, 219757595-219757602, 219757605, 219757608-219757609, 219757612-219757620, 219757646-219757684, 219757691-219757744, 219757770-219757775, 219757814-219757817, 219757849-219757852, 219757858, 219757901-219757904 |
| 610 | DES | 2 | 0.85350318471338 | 207 | 1413 | 220283185-220283197, 220283208-220283209, 220283233-220283241, 220283244, 220283246, 220283259-220283285, 220283317-220283374, 220283387, 220283398, 220283405, 220283413-220283419, 220283423-220283425, 220283434, 220283436-220283464, 220283618, 220283624-220283627, 220283681-220283687, 220283697-220283737 |
| 611 | OBSL1 | 2 | 0.83201546301177 | 956 | 5691 | 220416257, 220416263-220416268, 220416280-220416282, 220416285, 220416291-220416292, 220416311-220416316, 220416327-220416330, 220416387-220416390, 220416407, 220416410, 220416413, 220416441, 220416445, 220416458, 220416461-220416481, 220416486-220416487, 220416495-220416496, 220416861-220416867, 220416904-220416910, 220417272-220417273, 220417278, 220417282-220417284, 220417293-220417302, 220417307-220417340, 220417346-220417419, 220417593, 220417601, 220417616-220417663, 220422250-220422259, 220435000, 220435056, 220435102, 220435236-220435278, 220435290, 220435302-220435954 |
| 612 | PAX3 | 2 | 0.99934123847167 | 1 | 1518 | 223161791 |
| 613 | COL4A3 | 2 | 0.99700777977259 | 15 | 5013 | 228029448, 228029455, 228029485-228029495, 228163419, 228163457 |
| 614 | SLC19A3 | 2 | 0.99932930918846 | 1 | 1491 | 228563977 |
| 615 | CHRND | 2 | 0.998712998713 | 2 | 1554 | 233390937, 233390940 |
| 616 | CHRNG | 2 | 0.99163449163449 | 13 | 1554 | 233404471, 233404475, 233405327, 233405331, 233409240-233409246, 233409591-233409592 |
| 617 | UGT1A1 | 2 | 0.99126092384519 | 14 | 1602 | 234668934-234668939, 234668950-234668954, 234668957-234668959 |
| 618 | COL6A3 | 2 | 0.99580448919656 | 40 | 9534 | 238244861-238244889, 238283085-238283092, 238283430, 238305378, 238305381 |
| 619 | AGXT | 2 | 0.99067005937235 | 11 | 1179 | 241808685, 241813418, 241816982-241816990 |
| 620 | D2HGDH | 2 | 0.95721583652618 | 67 | 1566 | 242674640-242674641, 242674644-242674651, 242674655, 242674657, 242674717, 242674722-242674725, 242674748, 242695424, 242707157, 242707161, 242707163-242707166, 242707177-242707182, 242707191-242707196, 242707251, 242707281-242707283, 242707319, 242707325-242707330, 242707355-242707361, 242707371-242707382 |
| 621 | C20orf54 | 20 | 0.99929078014184 | 1 | 1410 | 744371 |
| 622 | AVP | 20 | 0.24242424242424 | 375 | 495 | 3063276-3063448, 3063623-3063824 |
| 623 | PANK2 | 20 | 0.75481611208406 | 420 | 1713 | 3869789-3869821, 3869836-3869840, 3869845, 3869869-3869875, 3869895-3869902, 3869913, 3869915-3869925, 3869928, 3869936-3870021, 3870024-3870035, 3870062, 3870080-3870142, 3870145, 3870153-3870158, 3870161, 3870176, 3870194-3870375 |
| 624 | JAG1 | 20 | 0.97785069729286 | 81 | 3657 | 10654098-10654178 |
| 625 | C20orf7 | 20 | 0.99518304431599 | 5 | 1038 | 13782226, 13782229-13782232 |
| 626 | THBD | 20 | 0.79108796296296 | 361 | 1728 | 23029055, 23029123-23029145, 23029196, 23029279-23029298, 23029315, 23029318-23029320, 23029333, 23029336-23029341, 23029436, 23029452-23029471, 23029507-23029516, 23029522-23029523, 23029526-23029566, 23029574-23029581, 23029593-23029594, 23029605-23029611, 23029647-23029684, 23029688-23029689, 23029692-23029694, 23029697, 23029707-23029712, 23029725, 23029737-23029749, 23029752-23029783, 23029824-23029872, 23029880-23029897, 23030013-23030022, 23030033-23030048, 23030062-23030086 |
| 627 | SNTA1 | 20 | 0.83333333333333 | 253 | 1518 | 32031144-32031147, 32031160, 32031163, 32031166, 32031170-32031187, 32031199-32031426 |
| 628 | GSS | 20 | 0.98877192982456 | 16 | 1425 | 33539570-33539577, 33539588-33539594, 33539599 |
| 629 | GDF5 | 20 | 0.99136786188579 | 13 | 1506 | 34025113-34025120, 34025123, 34025127-34025130 |
| 630 | SAMHD1 | 20 | 0.99362041467305 | 12 | 1881 | 35579865-35579868, 35579879-35579882, 35579953-35579956 |
| 631 | ADA | 20 | 0.98901098901099 | 12 | 1092 | 43257738-43257740, 43280216-43280223, 43280227 |
| 632 | CTSA | 20 | 0.98530394121576 | 22 | 1497 | 44520235-44520254, 44520264, 44520346 |
| 633 | SLC2A10 | 20 | 0.99753997539975 | 4 | 1626 | 45338376-45338379 |
| 634 | SALL4 | 20 | 0.99810246679317 | 6 | 3162 | 50418825, 50418838, 50418841-50418844 |
| 635 | VAPB | 20 | 0.9207650273224 | 58 | 732 | 56964516-56964573 |
| 636 | GNAS | 20 | 0.96070460704607 | 29 | 738 | 57415320-57415327, 57415337-57415347, 57415356-57415358, 57415672, 57415685, 57415693-57415695, 57415801-57415802 |
| 637 | GNAS | 20 | 0.89531149646757 | 326 | 3114 | 57429091-57429112, 57429447, 57429616, 57429638-57429696, 57429718-57429763, 57429777-57429795, 57429814-57429858, 57429944-57429946, 57429955, 57429961-57429963, 57429967-57429975, 57429978, 57429988, 57429991-57429994, 57429998-57430002, 57430041-57430094, 57430103-57430144, 57430165, 57430295-57430302, 57430315 |
| 638 | COL9A3 | 20 | 0.89683698296837 | 212 | 2055 | 61448417-61448494, 61448930-61448987, 61456337-61456373, 61461750, 61461909-61461922, 61461931-61461940, 61468526-61468538, 61468556 |
| 639 | CHRNA4 | 20 | 0.95010615711253 | 94 | 1884 | 61981106, 61981155-61981157, 61981160-61981163, 61981176-61981188, 61981237-61981238, 61981245-61981254, 61981260, 61981263-61981268, 61981274-61981277, 61981425, 61981446-61981448, 61981451-61981452, 61981455, 61981631, 61981914-61981916, 61981928, 61992443-61992446, 61992450-61992451, 61992455-61992462, 61992478-61992480, 61992483-61992487, 61992491-61992496, 61992503, 61992509-61992517 |
| 640 | KCNQ2 | 20 | 0.87819778541428 | 319 | 2619 | 62038037, 62038265-62038294, 62038498, 62038582-62038584, 62103521-62103743, 62103756-62103816 |
| 641 | SOX18 | 20 | 0.13593073593074 | 998 | 1155 | 62679519-62679530, 62679541, 62679545, 62679557-62679560, 62679608-62679617, 62679631, 62679634-62679641, 62679648, 62679665-62679671, 62679721-62680315, 62680512-62680869 |
| 642 | APP | 21 | 0.97535667963684 | 57 | 2313 | 27542882-27542938 |
| 643 | BACH1 | 21 | 0.99954771596563 | 1 | 2211 | 30715021 |
| 644 | SOD1 | 21 | 0.95698924731183 | 20 | 465 | 33032094, 33032101-33032103, 33032112-33032116, 33032122-33032125, 33032135-33032140, 33032154 |
| 645 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
| 646 | RCAN1 | 21 | 0.66666666666667 | 253 | 759 | 35895900, 35987059-35987310 |
| 647 | RUNX1 | 21 | 0.91753291753292 | 119 | 1443 | 36164432-36164444, 36164446-36164459, 36164463-36164464, 36164510-36164517, 36164522-36164531, 36164557, 36164594-36164597, 36164603, 36164693-36164700, 36259265-36259267, 36259284, 36259297-36259305, 36259318-36259321, 36259323-36259325, 36259328, 36259331-36259340, 36259348-36259351, 36259371-36259393 |
| 648 | HLCS | 21 | 0.99816597890876 | 4 | 2181 | 38309290-38309293 |
| 649 | TMPRSS3 | 21 | 0.9978021978022 | 3 | 1365 | 43804085, 43815525-43815526 |
| 650 | CBS | 21 | 0.9993961352657 | 1 | 1656 | 44483156 |
| 651 | CSTB | 21 | 0.77777777777778 | 66 | 297 | 45196085-45196150 |
| 652 | AIRE | 21 | 0.87423687423687 | 206 | 1638 | 45705890-45706021, 45706498, 45706503, 45706967, 45706980-45706984, 45706987, 45706999, 45707006-45707009, 45709905, 45712889-45712893, 45712897, 45712904-45712905, 45712911-45712917, 45712999, 45713005-45713013, 45713018, 45713021-45713022, 45713040-45713046, 45713776-45713793, 45714288, 45714291-45714294, 45716274 |
| 653 | ITGB2 | 21 | 0.94848484848485 | 119 | 2310 | 46308608-46308609, 46308613, 46308625-46308649, 46308661-46308714, 46308736-46308740, 46308745, 46308749, 46308756-46308762, 46308771, 46308774, 46308780-46308781, 46308784, 46308792-46308797, 46308803, 46308810, 46309201-46309210 |
| 654 | COL18A1 | 21 | 0.94662867996201 | 281 | 5265 | 46875464-46875466, 46875476-46875481, 46875487, 46875490-46875491, 46875504-46875507, 46875684, 46876212-46876214, 46876556-46876564, 46876566-46876575, 46876589-46876591, 46876645-46876652, 46876696, 46888174, 46888186, 46888603-46888605, 46888638, 46896294, 46900716, 46906797, 46906801, 46906807, 46906812-46906813, 46906822-46906824, 46906831, 46906838-46906841, 46906868, 46911188, 46911191-46911193, 46911227-46911228, 46924414-46924434, 46925098-46925108, 46925321, 46929397-46929400, 46929460-46929461, 46929463, 46929467, 46930020-46930036, 46930052-46930095, 46930111-46930175, 46931025-46931048, 46931124-46931125, 46932102-46932110 |
| 655 | COL6A1 | 21 | 0.95238095238095 | 147 | 3087 | 47401765-47401817, 47401841-47401847, 47407532-47407537, 47407543, 47407548, 47407558, 47407560-47407561, 47410172-47410193, 47410307-47410308, 47418860, 47419602-47419606, 47421251-47421253, 47422203, 47422206-47422208, 47422302, 47423323-47423354, 47423500-47423504, 47423507 |
| 656 | COL6A2 | 21 | 0.95718954248366 | 131 | 3060 | 47531448, 47531453, 47531462, 47532002, 47532009, 47532044-47532048, 47532054-47532059, 47532165-47532171, 47532174-47532175, 47532178-47532180, 47539724, 47545522, 47545525, 47545768, 47545781-47545782, 47545819-47545823, 47545826, 47545831-47545838, 47545973, 47551919, 47551994, 47552028-47552055, 47552212, 47552216-47552217, 47552302, 47552342-47552343, 47552368-47552413 |
| 657 | COL6A2 | 21 | 0.83918128654971 | 55 | 342 | 47552212, 47552216-47552217, 47552302, 47552342-47552343, 47552368-47552413, 47552477-47552478, 47552481 |
| 658 | FTCD | 21 | 0.95756457564576 | 69 | 1626 | 47565339-47565340, 47565381, 47565451-47565457, 47565732-47565776, 47565785-47565786, 47565799-47565805, 47570137, 47571634-47571636, 47574203 |
| 659 | PCNT | 21 | 0.98142043751873 | 186 | 10011 | 47744143-47744196, 47783691, 47818012, 47818015-47818016, 47818019-47818022, 47822346, 47822354, 47831299-47831301, 47831304, 47831384, 47831387, 47831401-47831402, 47831413-47831419, 47831423-47831425, 47831450, 47831454-47831455, 47831458, 47831465, 47831469, 47831474, 47831500-47831503, 47831733-47831777, 47832885-47832906, 47836696, 47836702, 47836711, 47836714, 47851818-47851820, 47851825, 47851831-47851843, 47856008, 47858096-47858099 |
| 660 | PEX26 | 22 | 0.96514161220044 | 32 | 918 | 18561183-18561206, 18561217-18561224 |
| 661 | PRODH | 22 | 0.83194675540765 | 303 | 1803 | 18900746-18900750, 18900760-18900761, 18908875, 18908898-18908926, 18923535-18923800 |
| 662 | GP1BB | 22 | 0.14170692431562 | 533 | 621 | 19711379, 19711386, 19711400-19711930 |
| 663 | TBX1 | 22 | 0.32325268817204 | 1007 | 1488 | 19747167, 19747178, 19747185-19747186, 19747194-19747195, 19748428-19748803, 19753288-19753289, 19753293, 19753297, 19753302, 19753309-19753348, 19753425-19753525, 19753912-19754390 |
| 664 | SMARCB1 | 22 | 0.91968911917098 | 93 | 1158 | 24129357-24129449 |
| 665 | UPB1 | 22 | 0.9991341991342 | 1 | 1155 | 24919626 |
| 666 | CHEK2 | 22 | 0.94264622373651 | 101 | 1761 | 29083891-29083916, 29083948-29083965, 29085135-29085171, 29091785-29091796, 29091837-29091844 |
| 667 | NF2 | 22 | 0.99944071588367 | 1 | 1788 | 30000005 |
| 668 | TCN2 | 22 | 0.97897196261682 | 27 | 1284 | 31003319-31003324, 31003331-31003351 |
| 669 | TIMP3 | 22 | 0.98427672955975 | 10 | 636 | 33198025-33198029, 33198052-33198055, 33198097 |
| 670 | MYH9 | 22 | 0.99864014958355 | 8 | 5883 | 36681955, 36688096, 36688099, 36688264-36688267, 36697704 |
| 671 | TRIOBP | 22 | 0.97886728655959 | 150 | 7098 | 38119745, 38119749-38119757, 38119763, 38119766-38119767, 38119771, 38119798-38119804, 38119882-38119884, 38119894, 38119902, 38120041, 38120297-38120346, 38120426-38120457, 38122075-38122076, 38122105-38122113, 38122432-38122434, 38122448, 38122459, 38122462-38122463, 38129405, 38130902-38130915, 38131034, 38147798, 38161738, 38165174-38165178 |
| 672 | SOX10 | 22 | 0.93576017130621 | 90 | 1401 | 38379514, 38379544, 38379549, 38379568, 38379702-38379777, 38379780-38379789 |
| 673 | EP300 | 22 | 0.99903381642512 | 7 | 7245 | 41545938, 41546129-41546133, 41573394 |
| 674 | TNFRSF13C | 22 | 0.43963963963964 | 311 | 555 | 42322110, 42322113, 42322120-42322121, 42322130, 42322154-42322158, 42322171-42322335, 42322642-42322777 |
| 675 | CYB5R3 | 22 | 0.97682119205298 | 21 | 906 | 43045301-43045321 |
| 676 | ATXN10 | 22 | 0.9187675070028 | 116 | 1428 | 46067944-46068059 |
| 677 | TRMU | 22 | 0.96840442338073 | 40 | 1266 | 46731689, 46731707-46731743, 46751393, 46751396 |
| 678 | ALG12 | 22 | 0.99045671438309 | 14 | 1467 | 50297986-50297993, 50297998-50298000, 50307377, 50307380, 50307386 |
| 679 | MLC1 | 22 | 0.97089947089947 | 33 | 1134 | 50502507, 50502588-50502619 |
| 680 | SCO2 | 22 | 0.94257178526841 | 46 | 801 | 50962529-50962549, 50962557-50962581 |
| 681 | TYMP | 22 | 0.61352657004831 | 560 | 1449 | 50964199-50964216, 50964234-50964347, 50964430-50964570, 50964675-50964905, 50965041-50965044, 50965059-50965095, 50965114, 50965125, 50965129-50965132, 50965135-50965140, 50967637, 50967682-50967683 |
| 682 | ARSA | 22 | 0.98622047244094 | 21 | 1524 | 51063622-51063626, 51063652-51063653, 51063662-51063666, 51063821-51063823, 51063829-51063832, 51064044, 51066168 |
| 683 | SHANK3 | 22 | 0.63977879481312 | 1889 | 5244 | 51113070-51113132, 51113476-51113538, 51113564-51113570, 51113659-51113663, 51113666-51113668, 51113671-51113672, 51133331-51133334, 51133343-51133358, 51135696-51135719, 51135951-51136143, 51143504, 51143507-51143509, 51153386-51153387, 51158612, 51158619-51158626, 51158630, 51158690-51158691, 51158705-51159308, 51159318-51159365, 51159423-51159428, 51159432-51159484, 51159545-51159577, 51159588-51159648, 51159702, 51159769-51159803, 51159875, 51159882, 51159894, 51159941, 51159954, 51159957-51159959, 51159972, 51160002, 51160169-51160217, 51160228-51160255, 51160535-51160537, 51160554, 51160561-51160570, 51160615-51160616, 51160786-51160825, 51169149-51169150, 51169154, 51169160-51169164, 51169179-51169186, 51169190-51169200, 51169205, 51169211-51169216, 51169222-51169224, 51169234-51169237, 51169248, 51169260-51169269, 51169273, 51169287-51169740 |
| 684 | SUMF1 | 3 | 0.99733333333333 | 3 | 1125 | 4508775, 4508778-4508779 |
| 685 | ITPR1 | 3 | 0.99852452969384 | 12 | 8133 | 4699933-4699939, 4730269-4730273 |
| 686 | FANCD2 | 3 | 0.97554347826087 | 108 | 4416 | 10088264-10088311, 10088340-10088346, 10091150-10091156, 10107087-10107116, 10107165-10107171, 10114941-10114947, 10132053-10132054 |
| 687 | VHL | 3 | 0.95794392523364 | 27 | 642 | 10183614, 10183701-10183702, 10183721-10183731, 10183739-10183749, 10183793, 10183811 |
| 688 | WNT7A | 3 | 0.98571428571429 | 15 | 1050 | 13860584, 13860738-13860750, 13921280 |
| 689 | XPC | 3 | 0.99787460148778 | 6 | 2823 | 14220022-14220025, 14220035-14220036 |
| 690 | TGFBR2 | 3 | 0.99662731871838 | 6 | 1779 | 30648379, 30648382, 30648394, 30648413, 30648416, 30648419 |
| 691 | GLB1 | 3 | 0.96312684365782 | 75 | 2034 | 33138503-33138577 |
| 692 | CRTAP | 3 | 0.64262023217247 | 431 | 1206 | 33155570-33155979, 33155991-33156000, 33156003, 33156012, 33156032-33156040 |
| 693 | MLH1 | 3 | 0.9929546455306 | 16 | 2271 | 37067188-37067189, 37067197, 37067390, 37070378-37070389 |
| 694 | SCN5A | 3 | 0.99762268636441 | 14 | 5889 | 38597980-38597984, 38597991-38597992, 38648165-38648171 |
| 695 | ABHD5 | 3 | 0.9552380952381 | 47 | 1050 | 43732485-43732531 |
| 696 | TMIE | 3 | 0.69063180827887 | 142 | 459 | 46742860-46742963, 46742979-46743000, 46743010-46743025 |
| 697 | TMIE | 3 | 0.91932059447983 | 38 | 471 | 46742979-46743000, 46743010-46743025 |
| 698 | TREX1 | 3 | 0.99009009009009 | 11 | 1110 | 48508034, 48508048, 48508710, 48508720, 48508925-48508931 |
| 699 | COL7A1 | 3 | 0.99943406904358 | 5 | 8835 | 48612859, 48612907, 48622484, 48623626, 48632588 |
| 700 | LAMB2 | 3 | 0.99925884750787 | 4 | 5397 | 49162887-49162890 |
| 701 | GNAT1 | 3 | 0.95536562203229 | 47 | 1053 | 50231087-50231094, 50231187, 50231200, 50231281-50231284, 50232203-50232216, 50232231-50232247, 50232252, 50232263 |
| 702 | HYAL1 | 3 | 0.99923547400612 | 1 | 1308 | 50338466 |
| 703 | RFT1 | 3 | 0.99077490774908 | 15 | 1626 | 53156401, 53156408, 53156422-53156423, 53157767-53157777 |
| 704 | TKT | 3 | 0.94284188034188 | 107 | 1872 | 53289852-53289958 |
| 705 | HESX1 | 3 | 0.98745519713262 | 7 | 558 | 57233919-57233925 |
| 706 | FLNB | 3 | 0.99270072992701 | 57 | 7809 | 57994405-57994443, 58062873-58062890 |
| 707 | PDHB | 3 | 0.98055555555556 | 21 | 1080 | 58419367, 58419392-58419411 |
| 708 | ATXN7 | 3 | 0.88548273431994 | 325 | 2838 | 63898275-63898599 |
| 709 | MITF | 3 | 0.99808061420345 | 3 | 1563 | 69788750, 69788773, 69928407 |
| 710 | PROK2 | 3 | 0.94615384615385 | 21 | 390 | 71834152-71834161, 71834164, 71834167-71834176 |
| 711 | ROBO2 | 3 | 0.99951655789219 | 2 | 4137 | 77666828, 77666831 |
| 712 | GBE1 | 3 | 0.99762920815552 | 5 | 2109 | 81810613, 81810618-81810621 |
| 713 | CHMP2B | 3 | 0.98286604361371 | 11 | 642 | 87294974-87294984 |
| 714 | POU1F1 | 3 | 0.99685534591195 | 3 | 954 | 87313562-87313564 |
| 715 | PROS1 | 3 | 0.9862136878385 | 28 | 2031 | 93595834, 93595837, 93595907, 93692560-93692579, 93692584, 93692590-93692593 |
| 716 | CPOX | 3 | 0.84395604395604 | 213 | 1365 | 98311875-98311879, 98311883-98311887, 98311930, 98311933-98311940, 98311950-98311960, 98312076-98312078, 98312083, 98312124-98312140, 98312147-98312301, 98312320-98312326 |
| 717 | IQCB1 | 3 | 0.99220923761825 | 14 | 1797 | 121518147-121518160 |
| 718 | CASR | 3 | 0.99721964782206 | 9 | 3237 | 122003490, 122003496, 122003657-122003663 |
| 719 | ACAD9 | 3 | 0.9957127545552 | 8 | 1866 | 128628973-128628980 |
| 720 | GP9 | 3 | 0.97565543071161 | 13 | 534 | 128780955-128780956, 128780984-128780986, 128780989, 128780993-128780999 |
| 721 | NPHP3 | 3 | 0.93939393939394 | 242 | 3993 | 132409439-132409441, 132438560-132438561, 132438564, 132438577, 132438625, 132438637-132438673, 132440953, 132441004-132441199 |
| 722 | PCCB | 3 | 0.99506172839506 | 8 | 1620 | 135969225-135969232 |
| 723 | FOXL2 | 3 | 0.43324491600354 | 641 | 1131 | 138664449-138664451, 138664539-138665047, 138665072-138665075, 138665081, 138665084-138665106, 138665124-138665127, 138665186-138665233, 138665248, 138665294, 138665303-138665307, 138665318, 138665323, 138665339-138665342, 138665351-138665354, 138665365-138665372, 138665375, 138665380-138665382, 138665394, 138665471, 138665516-138665533 |
| 724 | MRPS22 | 3 | 0.99722991689751 | 3 | 1083 | 139074585-139074587 |
| 725 | PLOD2 | 3 | 0.99780412823891 | 5 | 2277 | 145878735-145878737, 145878744, 145878747 |
| 726 | HPS3 | 3 | 0.99734660033167 | 8 | 3015 | 148847549, 148847557-148847562, 148847572 |
| 727 | CLRN1 | 3 | 0.98283261802575 | 12 | 699 | 150659414-150659425 |
| 728 | GFM1 | 3 | 0.99955673758865 | 1 | 2256 | 158399896 |
| 729 | PLD1 | 3 | 0.99968992248062 | 1 | 3225 | 171406495 |
| 730 | GHSR | 3 | 0.99545867393279 | 5 | 1101 | 172165790, 172166083-172166085, 172166093 |
| 731 | SOX2 | 3 | 0.78930817610063 | 201 | 954 | 181430149-181430185, 181430202-181430248, 181430261, 181430265-181430275, 181430280-181430287, 181430302-181430305, 181430310, 181430313, 181430363-181430383, 181430403-181430433, 181430525-181430544, 181430675-181430692, 181431011 |
| 732 | EIF2B5 | 3 | 0.99584487534626 | 9 | 2166 | 183853284-183853289, 183853292-183853293, 183862717 |
| 733 | ALG3 | 3 | 0.97038724373576 | 39 | 1317 | 183966586-183966591, 183966595-183966606, 183966616-183966625, 183966630, 183966647-183966656 |
| 734 | CLCN2 | 3 | 0.9981460882462 | 5 | 2697 | 184064463, 184072377, 184074986-184074987, 184075429 |
| 735 | OPA1 | 3 | 0.9990157480315 | 3 | 3048 | 193365921-193365923 |
| 736 | PDE6B | 4 | 0.99688109161793 | 8 | 2565 | 619545, 652768, 657591-657596 |
| 737 | IDUA | 4 | 0.6901121304791 | 608 | 1962 | 980873-980991, 981631, 981650, 981731, 981737, 994721-994725, 995814, 995912-995914, 995919, 995939-995942, 996071-996072, 996093, 996097, 996167-996178, 996225-996269, 996520-996732, 996824-996945, 997133-997206, 997250 |
| 738 | FGFR3 | 4 | 0.92336217552534 | 186 | 2427 | 1795662-1795698, 1795708, 1795712, 1801146, 1803119-1803120, 1803123-1803124, 1803142-1803144, 1803174, 1803347-1803362, 1803365-1803376, 1803390, 1803586-1803588, 1803601, 1803750, 1806645-1806671, 1808556, 1808568-1808576, 1808583, 1808587-1808623, 1808632-1808651, 1808905-1808906, 1808909, 1808934, 1808943-1808944, 1808951, 1808978, 1808981 |
| 739 | SH3BP2 | 4 | 0.89606892837911 | 193 | 1857 | 2819951-2820117, 2822467, 2831383, 2831442-2831448, 2831461-2831462, 2831570-2831571, 2834763-2834774, 2835502 |
| 740 | HTT | 4 | 0.9685014317531 | 297 | 9429 | 3076553-3076603, 3076604-3076792, 3127343-3127349, 3182303-3182308, 3182327-3182328, 3182334-3182338, 3201604-3201607, 3213776-3213786, 3213797-3213800, 3230670, 3230682, 3234891, 3234900, 3234912-3234914, 3234919-3234920, 3234931-3234937, 3240316, 3240674 |
| 741 | DOK7 | 4 | 0.88448844884488 | 175 | 1515 | 3465103-3465156, 3465233-3465278, 3475133-3475145, 3475192-3475194, 3478110-3478115, 3494559, 3494833, 3494847-3494853, 3494856-3494867, 3494879-3494882, 3495002-3495029 |
| 742 | DOK7 | 4 | 0.91032148900169 | 53 | 591 | 3494559, 3494833, 3494847-3494853, 3494856-3494867, 3494879-3494882, 3495002-3495029 |
| 743 | MSX1 | 4 | 0.47039473684211 | 483 | 912 | 4861627-4862095, 4864507, 4864511, 4864515-4864517, 4864798-4864806 |
| 744 | EVC2 | 4 | 0.98675833969952 | 52 | 3927 | 5578125-5578132, 5578135-5578136, 5710108-5710112, 5710120-5710122, 5710125, 5710128, 5710142-5710143, 5710147-5710149, 5710171-5710179, 5710206, 5710209-5710214, 5710225-5710235 |
| 745 | EVC | 4 | 0.92984222893588 | 209 | 2979 | 5713108-5713266, 5755633-5755636, 5755639-5755640, 5785471, 5785474, 5800388, 5800391, 5800419-5800421, 5800467, 5809967-5809976, 5809983-5810008 |
| 746 | WFS1 | 4 | 0.98466142910587 | 41 | 2673 | 6303540, 6303544-6303546, 6303551, 6303878-6303910, 6303929-6303930, 6303936 |
| 747 | SLC2A9 | 4 | 0.99630314232902 | 6 | 1623 | 10020643-10020645, 10020655, 10020670, 10020675 |
| 748 | CC2D2A | 4 | 0.99732675303311 | 13 | 4863 | 15511838-15511850 |
| 749 | QDPR | 4 | 0.96734693877551 | 24 | 735 | 17513573, 17513578-17513579, 17513582-17513588, 17513659-17513662, 17513668-17513677 |
| 750 | CNGA1 | 4 | 0.9780701754386 | 50 | 2280 | 47954634-47954683 |
| 751 | SGCB | 4 | 0.96551724137931 | 33 | 957 | 52904393-52904425 |
| 752 | PDGFRA | 4 | 0.99969418960245 | 1 | 3270 | 55127469 |
| 753 | KIT | 4 | 0.98362333674514 | 48 | 2931 | 55524182-55524225, 55524234-55524237 |
| 754 | SLC4A4 | 4 | 0.99908675799087 | 3 | 3285 | 72205138-72205140 |
| 755 | COQ2 | 4 | 0.90649350649351 | 108 | 1155 | 84205713-84205718, 84205733-84205739, 84205741-84205753, 84205762-84205787, 84205793-84205796, 84205807-84205824, 84205833, 84205880, 84205884, 84205888-84205889, 84205892-84205898, 84205901-84205922 |
| 756 | CDS1 | 4 | 0.9992784992785 | 1 | 1386 | 85569758 |
| 757 | DMP1 | 4 | 0.99933065595716 | 1 | 1494 | 88583989 |
| 758 | PKD2 | 4 | 0.81699346405229 | 532 | 2907 | 88928886-88929401, 88929411-88929418, 88929435-88929437, 88929440-88929444 |
| 759 | SNCA | 4 | 0.97163120567376 | 12 | 423 | 90749311, 90756698-90756708 |
| 760 | MTTP | 4 | 0.99813780260708 | 5 | 2685 | 100529988-100529992 |
| 761 | MANBA | 4 | 0.99810606060606 | 5 | 2640 | 103681888-103681891, 103681999 |
| 762 | CISD2 | 4 | 0.93137254901961 | 28 | 408 | 103790258-103790261, 103808506-103808522, 103808569-103808575 |
| 763 | HADH | 4 | 0.99470899470899 | 5 | 945 | 108911121, 108911198, 108911205, 108911209-108911210 |
| 764 | CFI | 4 | 0.99942922374429 | 1 | 1752 | 110723124 |
| 765 | ANK2 | 4 | 0.99974734714502 | 3 | 11874 | 114161694, 114161719, 114232495 |
| 766 | BBS7 | 4 | 0.99813780260708 | 4 | 2148 | 122782768, 122782772, 122782785, 122782788 |
| 767 | MFSD8 | 4 | 0.99935773924213 | 1 | 1557 | 128859947 |
| 768 | FGB | 4 | 0.99119241192412 | 13 | 1476 | 155484240-155484252 |
| 769 | LRAT | 4 | 0.997113997114 | 2 | 693 | 155665918, 155665921 |
| 770 | CTSO | 4 | 0.95134575569358 | 47 | 966 | 156874881-156874900, 156874937-156874938, 156874950-156874972, 156874991-156874992 |
| 771 | GLRB | 4 | 0.9946452476573 | 8 | 1494 | 158041712-158041713, 158041722-158041727 |
| 772 | GK | 4 | 0.99578820697954 | 7 | 1662 | 166199426-166199432 |
| 773 | SLC25A4 | 4 | 0.87625418060201 | 111 | 897 | 186064527-186064637 |
| 774 | SDHA | 5 | 0.9328320802005 | 134 | 1995 | 218471-218481, 218490-218496, 218512-218514, 218520-218533, 236613-236619, 236646-236681, 236693-236699, 240564-240570, 251143-251149, 251500-251506, 254526-254553 |
| 775 | SLC6A19 | 5 | 0.99212598425197 | 15 | 1905 | 1208888-1208891, 1208991-1209001 |
| 776 | TERT | 5 | 0.84995586937335 | 510 | 3399 | 1280368, 1280377-1280380, 1293732, 1293739-1293747, 1293761-1293762, 1294091-1294094, 1294098, 1294105, 1294482-1294494, 1294502-1294507, 1294533-1294781, 1294886-1295104 |
| 777 | SLC6A3 | 5 | 0.99785292538916 | 4 | 1863 | 1414806-1414807, 1414811, 1414814 |
| 778 | SDHA | 5 | 0.7217125382263 | 91 | 327 | 1589386-1589390, 1593243-1593269, 1593323-1593329, 1594510-1594523, 1594532-1594569 |
| 779 | NDUFS6 | 5 | 0.984 | 6 | 375 | 1801589-1801594 |
| 780 | MTRR | 5 | 0.99586776859504 | 9 | 2178 | 7869274, 7869279, 7869290-7869296 |
| 781 | DNAH5 | 5 | 0.99473873873874 | 73 | 13875 | 13810225-13810237, 13810293-13810320, 13810323-13810325, 13810330-13810335, 13810357-13810367, 13916478, 13916489, 13916492-13916494, 13916497, 13916510, 13916513, 13916524, 13916536, 13916541, 13916545 |
| 782 | ANKH | 5 | 0.99256254225828 | 11 | 1479 | 14769282-14769286, 14769295-14769300 |
| 783 | FAM134B | 5 | 0.79384203480589 | 308 | 1494 | 16483466, 16616774-16617080 |
| 784 | SLC45A2 | 5 | 0.99058380414313 | 15 | 1593 | 33984446-33984451, 33984460-33984467, 33984478 |
| 785 | AMACR | 5 | 0.99303742384682 | 8 | 1149 | 34007891, 34007897-34007902, 34008016 |
| 786 | NIPBL | 5 | 0.99762329174094 | 20 | 8415 | 37048621-37048623, 37048626-37048633, 37048643-37048651 |
| 787 | LIFR | 5 | 0.99878567091682 | 4 | 3294 | 38510578-38510581 |
| 788 | ITGA2 | 5 | 0.9960518894529 | 14 | 3546 | 52285316-52285327, 52285338, 52285361 |
| 789 | ERCC8 | 5 | 0.99244332493703 | 9 | 1191 | 60200646-60200652, 60200664-60200665 |
| 790 | SMN2 | 5 | 0.99887005649718 | 1 | 885 | 69362949 |
| 791 | SMN2 | 5 | 0.99887005649718 | 1 | 885 | 70238373 |
| 792 | HEXB | 5 | 0.94135248354279 | 98 | 1671 | 73981086-73981105, 73981127, 73981131-73981134, 73981161-73981163, 73981210-73981212, 73981215, 73981222-73981225, 73981227, 73981230, 73981233, 73981237-73981239, 73981247, 73981251-73981252, 73981258-73981263, 73981270, 73981274-73981281, 73981321, 73981346-73981382 |
| 793 | AP3B1 | 5 | 0.99939117199391 | 2 | 3285 | 77563404, 77563407 |
| 794 | ARSB | 5 | 0.80524344569288 | 312 | 1602 | 78280760-78281071 |
| 795 | VCAN | 5 | 0.99882249043273 | 12 | 10191 | 82836710-82836711, 82836736-82836744, 82837784 |
| 796 | RASA1 | 5 | 0.94974554707379 | 158 | 3144 | 86669980-86670137 |
| 797 | MEF2C | 5 | 0.9971870604782 | 4 | 1422 | 88024429-88024432 |
| 798 | GPR98 | 5 | 0.99841446012367 | 30 | 18921 | 89854713-89854714, 89986763-89986770, 90004633, 90024565-90024572, 90144554-90144564 |
| 799 | PCSK1 | 5 | 0.99690539345712 | 7 | 2262 | 95746569-95746575 |
| 800 | WDR36 | 5 | 0.99964985994398 | 1 | 2856 | 110441841 |
| 801 | LMNB1 | 5 | 0.92788188529245 | 127 | 1761 | 126113211-126113288, 126113376, 126113382, 126113419-126113421, 126113457-126113500 |
| 802 | FBN2 | 5 | 0.99301979631537 | 61 | 8739 | 127614472, 127680104-127680109, 127782229, 127873043-127873057, 127873110, 127873132, 127873173-127873175, 127873193-127873225 |
| 803 | SLC22A5 | 5 | 0.99223416965352 | 13 | 1674 | 131705781, 131705815, 131705825, 131705842, 131705846-131705849, 131705875, 131705937-131705940 |
| 804 | TGFBI | 5 | 0.97514619883041 | 51 | 2052 | 135364764, 135364796, 135364810-135364813, 135364817-135364829, 135364839-135364870 |
| 805 | MYOT | 5 | 0.99866399465598 | 2 | 1497 | 137221780, 137221784 |
| 806 | SIL1 | 5 | 0.998556998557 | 2 | 1386 | 138283103-138283104 |
| 807 | MATR3 | 5 | 0.99646226415094 | 9 | 2544 | 138643163, 138651809-138651813, 138651819-138651821 |
| 808 | DIAPH1 | 5 | 0.98062319979052 | 74 | 3819 | 140953341-140953343, 140953396-140953400, 140953403, 140953420, 140953426-140953430, 140953438, 140953441, 140953444, 140953466-140953470, 140953476-140953479, 140953497, 140953500-140953509, 140953513-140953519, 140953530-140953532, 140953542-140953549, 140953560-140953576, 140998474 |
| 809 | POU4F3 | 5 | 0.97738446411013 | 23 | 1017 | 145719319-145719329, 145719340-145719342, 145719352-145719355, 145719752-145719754, 145719949, 145719953 |
| 810 | SPINK5 | 5 | 0.99543378995434 | 15 | 3285 | 147504345-147504359 |
| 811 | ADRB2 | 5 | 0.99919484702093 | 1 | 1242 | 148207633 |
| 812 | SH3TC2 | 5 | 0.99974140160331 | 1 | 3867 | 148384419 |
| 813 | TCOF1 | 5 | 0.99701561065197 | 13 | 4356 | 149737321, 149737346, 149737364-149737366, 149737378-149737381, 149737390-149737393 |
| 814 | ITK | 5 | 0.99570585077831 | 8 | 1863 | 156641264-156641271 |
| 815 | NIPAL4 | 5 | 0.96359743040685 | 51 | 1401 | 156887228-156887231, 156887271-156887308, 156898670-156898674, 156898680-156898683 |
| 816 | NKX2-5 | 5 | 0.92 | 78 | 975 | 172659898-172659926, 172660041-172660043, 172660052, 172661857-172661869, 172661872-172661884, 172661895-172661899, 172661902, 172661992-172662004 |
| 817 | MSX2 | 5 | 0.84825870646766 | 122 | 804 | 174151708, 174151731-174151740, 174151751-174151759, 174151762, 174151764, 174151769-174151808, 174151815, 174151818-174151826, 174151833, 174151849-174151854, 174151871-174151912, 174156212 |
| 818 | NSD1 | 5 | 0.99987640588308 | 1 | 8091 | 176687054 |
| 819 | F12 | 5 | 0.97766323024055 | 13 | 582 | 176830292-176830295, 176830305, 176830309-176830316 |
| 820 | F12 | 5 | 0.98538961038961 | 27 | 1848 | 176830292-176830295, 176830305, 176830309-176830316, 176830616, 176830936-176830938, 176830941-176830942, 176830967-176830968, 176831065, 176831081, 176831567-176831569, 176832070 |
| 821 | NHP2 | 5 | 0.99134199134199 | 4 | 462 | 177576714-177576717 |
| 822 | GRM6 | 5 | 0.8371298405467 | 429 | 2634 | 178415971, 178421454-178421461, 178421474, 178421479, 178421484-178421485, 178421488, 178421491, 178421507-178421543, 178421569-178421945 |
| 823 | SQSTM1 | 5 | 0.84504913076342 | 205 | 1323 | 179247937-179248141 |
| 824 | FLT4 | 5 | 0.96945259042033 | 125 | 4092 | 180045816, 180045894-180045896, 180045912-180045913, 180045918-180045919, 180046021-180046026, 180046036, 180046041, 180046044-180046046, 180046049, 180046052-180046053, 180046076-180046086, 180046096-180046109, 180046335-180046344, 180046724, 180048189-180048195, 180051054, 180057038, 180076488-180076545 |
| 825 | FOXC1 | 6 | 0.35860409145608 | 1066 | 1662 | 1610702-1610718, 1610738-1610784, 1610802, 1610814-1610869, 1610884-1610894, 1610999-1611057, 1611065-1611130, 1611141-1611143, 1611175, 1611188-1611195, 1611209-1611227, 1611294-1612045, 1612058-1612062, 1612084, 1612087, 1612092-1612098, 1612138-1612139, 1612142-1612150, 1612177 |
| 826 | TUBB2B | 6 | 0.89237668161435 | 144 | 1338 | 3225140-3225146, 3225237-3225284, 3225399-3225419, 3225442-3225490, 3225560-3225576, 3226409, 3227758 |
| 827 | DSP | 6 | 0.99976787372331 | 2 | 8616 | 7542163, 7542260 |
| 828 | TFAP2A | 6 | 0.99695585996956 | 4 | 1314 | 10404763, 10404767, 10410321, 10410539 |
| 829 | DTNBP1 | 6 | 0.9592803030303 | 43 | 1056 | 15533486-15533488, 15663061-15663100 |
| 830 | ATXN1 | 6 | 0.95016339869281 | 122 | 2448 | 16327486-16327487, 16327547, 16327598-16327601, 16327799-16327810, 16327827, 16327830-16327831, 16327841, 16327854-16327866, 16327873-16327945, 16327948-16327959, 16328058 |
| 831 | NHLRC1 | 6 | 0.98232323232323 | 21 | 1188 | 18122492, 18122498, 18122522, 18122526, 18122531, 18122680-18122685, 18122700, 18122707, 18122714-18122721 |
| 832 | ALDH5A1 | 6 | 0.89313904068002 | 176 | 1647 | 24495299-24495301, 24495307-24495438, 24495463-24495473, 24495477, 24495481, 24495496-24495502, 24495519-24495529, 24495540, 24495544-24495552 |
| 833 | HLA-H | 6 | 0.552 | 336 | 750 | 29855777, 29855780, 29855802-29855808, 29855814-29855826, 29855829-29855831, 29855841-29855879, 29855886, 29855891, 29855901-29855905, 29855935-29855958, 29855967-29856001, 29856262-29856290, 29856300-29856405, 29856415-29856418, 29856421, 29856426-29856427, 29856436-29856466, 29856583-29856614, 29856643 |
| 834 | TNXB | 6 | 0.94090202177294 | 114 | 1929 | 31976395, 31976398, 31976896-31976929, 31977388-31977394, 31977835-31977841, 31979402-31979409, 31979417-31979464, 31979639, 31980130-31980136 |
| 835 | CYP21A2 | 6 | 0.92674731182796 | 109 | 1488 | 32006200-32006250, 32006337, 32007846-32007852, 32008692-32008735, 32008748, 32008751-32008752, 32008763, 32008766, 32008774 |
| 836 | TNXB | 6 | 0.98523057585042 | 188 | 12729 | 32009128, 32009631-32009664, 32010123-32010129, 32010569-32010575, 32012256-32012263, 32012271-32012318, 32012984-32012990, 32013051, 32023897, 32023903, 32035494-32035497, 32036829-32036832, 32046810-32046813, 32063936-32063939, 32064108-32064133, 32064139, 32064144, 32064408-32064433, 32064525-32064527 |
| 837 | HLA-DQA1 | 6 | 0.92578125 | 57 | 768 | 32605257, 32605274, 32605295, 32609126, 32609169, 32609173, 32609181, 32609195, 32609207, 32609212-32609213, 32609216, 32609227-32609241, 32609253-32609255, 32609264, 32609271, 32609278-32609279, 32609286, 32609299, 32609312, 32610387-32610406 |
| 838 | HLA-DQB1 | 6 | 0.53689567430025 | 364 | 786 | 32628022, 32629190-32629213, 32629802, 32629844-32629908, 32629932-32629958, 32632575-32632577, 32632581-32632677, 32632695, 32632706-32632710, 32632716, 32632727-32632761, 32632769-32632775, 32632795, 32632798, 32634279-32634358, 32634370-32634384 |
| 839 | COL11A2 | 6 | 0.99443484935713 | 29 | 5211 | 33138124-33138126, 33140066-33140071, 33140359, 33140367-33140369, 33141161, 33141687-33141701 |
| 840 | SYNGAP1 | 6 | 0.90699404761905 | 375 | 4032 | 33388042-33388108, 33393575-33393680, 33400008, 33405790-33405797, 33405811-33405813, 33405822-33405823, 33410892, 33410898, 33410991-33410992, 33411485-33411504, 33411507-33411668, 33411688, 33411725 |
| 841 | FANCE | 6 | 0.91433891992551 | 138 | 1611 | 35420323-35420431, 35420447-35420467, 35420555-35420558, 35425355-35425358 |
| 842 | TULP1 | 6 | 0.96009821976673 | 65 | 1629 | 35471359-35471366, 35478652, 35479574, 35479957-35479962, 35479980-35480028 |
| 843 | MOCS1 | 6 | 0.99738356881214 | 5 | 1911 | 39874281-39874285 |
| 844 | PRPH2 | 6 | 0.98655139289145 | 14 | 1041 | 42672153-42672154, 42672159-42672169, 42672172 |
| 845 | PEX6 | 6 | 0.89908256880734 | 297 | 2943 | 42946432-42946449, 42946456-42946494, 42946514-42946526, 42946532-42946538, 42946548-42946749, 42946779-42946782, 42946792-42946805 |
| 846 | CUL7 | 6 | 0.99960761232097 | 2 | 5097 | 43008758-43008759 |
| 847 | RSPH9 | 6 | 0.88567990373045 | 95 | 831 | 43612840-43612873, 43612889-43612933, 43612967-43612970, 43612980-43612984, 43612993, 43613047-43613052 |
| 848 | RUNX2 | 6 | 0.85568326947637 | 226 | 1566 | 45390330-45390553, 45390657, 45480024 |
| 849 | MUT | 6 | 0.99955614735908 | 1 | 2253 | 49403295 |
| 850 | EYS | 6 | 0.99904610492846 | 9 | 9435 | 64940572-64940580 |
| 851 | COL9A1 | 6 | 0.99963846710051 | 1 | 2766 | 70981397 |
| 852 | RIMS1 | 6 | 0.97637330183107 | 120 | 5079 | 72889402-72889405, 72892193-72892194, 72892296-72892300, 72892303-72892304, 72892307-72892312, 72892315, 72892336-72892340, 72892349, 72892356, 72892364-72892365, 72892378, 72892391-72892438, 72892444-72892445, 72892473-72892497, 72892518-72892520, 72892547, 72892596-72892605, 73001695 |
| 853 | SLC17A5 | 6 | 0.93682795698925 | 94 | 1488 | 74363516-74363609 |
| 854 | SLC35A1 | 6 | 0.98915187376726 | 11 | 1014 | 88182722-88182729, 88182733-88182735 |
| 855 | PDSS2 | 6 | 0.99916666666667 | 1 | 1200 | 107655458 |
| 856 | SEC63 | 6 | 0.98028909329829 | 45 | 2283 | 108279090-108279095, 108279137-108279139, 108279178-108279213 |
| 857 | OSTM1 | 6 | 0.8955223880597 | 105 | 1005 | 108395574-108395591, 108395602-108395640, 108395732, 108395746-108395754, 108395758, 108395775-108395778, 108395788-108395794, 108395798-108395803, 108395809-108395810, 108395818-108395821, 108395827-108395840 |
| 858 | FIG4 | 6 | 0.9992657856094 | 2 | 2724 | 110081465-110081466 |
| 859 | RSPH4A | 6 | 0.99907019990702 | 2 | 2151 | 116938382, 116938385 |
| 860 | GJA1 | 6 | 0.99390774586597 | 7 | 1149 | 121768922-121768928 |
| 861 | LAMA2 | 6 | 0.99797073587525 | 19 | 9363 | 129204469-129204470, 129513911-129513916, 129513919-129513927, 129635883, 129635894 |
| 862 | ENPP1 | 6 | 0.92980561555076 | 195 | 2778 | 132129176-132129312, 132129359-132129377, 132171184, 132203485-132203502, 132203507, 132203510-132203511, 132203514-132203519, 132203567-132203577 |
| 863 | PEX7 | 6 | 0.92078189300412 | 77 | 972 | 137143804-137143808, 137143823-137143882, 137143898-137143903, 137143907-137143909, 137143930-137143931, 137219359 |
| 864 | PLAGL1 | 6 | 0.9985632183908 | 2 | 1392 | 144263597-144263598 |
| 865 | STX11 | 6 | 0.97685185185185 | 20 | 864 | 144507815-144507817, 144508186, 144508366, 144508372, 144508375-144508378, 144508392-144508395, 144508415, 144508426, 144508509-144508512 |
| 866 | EPM2A | 6 | 0.69779116465863 | 301 | 996 | 146056334-146056634 |
| 867 | IYD | 6 | 0.98735632183908 | 11 | 870 | 150719239-150719242, 150719253-150719258, 150719260 |
| 868 | SYNE1 | 6 | 0.99920436462832 | 21 | 26394 | 152456330-152456337, 152545704, 152545797, 152558049-152558051, 152644739-152644742, 152674772, 152774726, 152774737-152774738 |
| 869 | PARK2 | 6 | 0.99570815450644 | 6 | 1398 | 161969966, 161969972-161969974, 161969990, 161969993 |
| 870 | TBP | 6 | 0.91176470588235 | 90 | 1020 | 170871010-170871016, 170871019, 170871022-170871033, 170871038-170871040, 170871043, 170871046, 170871048-170871060, 170871064-170871082, 170871085, 170871088, 170871091, 170871094-170871105, 170871164-170871181 |
| 871 | LFNG | 7 | 0.67105263157895 | 375 | 1140 | 2559496-2559826, 2559846, 2559851, 2559868-2559895, 2564374-2564377, 2565086, 2565090, 2565098-2565105 |
| 872 | PMS2 | 7 | 0.99536500579374 | 12 | 2589 | 6029444-6029448, 6029452-6029458 |
| 873 | TWIST1 | 7 | 0.44006568144499 | 341 | 609 | 19156565-19156589, 19156599-19156601, 19156625-19156631, 19156639-19156944 |
| 874 | DNAH11 | 7 | 0.99609490126732 | 53 | 13572 | 21582894-21582896, 21582900, 21582903, 21583032-21583063, 21630915, 21630926-21630938, 21924013-21924014 |
| 875 | DFNA5 | 7 | 0.99396378269618 | 9 | 1491 | 24742429-24742437 |
| 876 | HOXA1 | 7 | 0.99603174603175 | 4 | 1008 | 27135317-27135319, 27135335 |
| 877 | HOXA13 | 7 | 0.56726649528706 | 505 | 1167 | 27239079-27239084, 27239097-27239112, 27239117-27239118, 27239137-27239146, 27239171, 27239211, 27239218, 27239223-27239247, 27239254-27239696 |
| 878 | GARS | 7 | 0.99324324324324 | 15 | 2220 | 30634564, 30634567, 30634573-30634580, 30634590, 30634594-30634597 |
| 879 | RP9 | 7 | 0.77177177177177 | 152 | 666 | 33148833-33148984 |
| 880 | GLI3 | 7 | 0.94897744043854 | 242 | 4743 | 42005057-42005061, 42005216-42005225, 42005296, 42005427-42005434, 42005473, 42005493, 42005509, 42005571-42005666, 42005712-42005713, 42005716-42005717, 42005728-42005733, 42005739-42005741, 42005808, 42005811, 42005836-42005840, 42005844-42005845, 42005851, 42005870-42005876, 42005884-42005926, 42005948-42005953, 42006026, 42006078-42006105, 42006118-42006128 |
| 881 | CCM2 | 7 | 0.97303370786517 | 36 | 1335 | 45039933-45039962, 45113127, 45113132, 45113914, 45113918-45113920 |
| 882 | DDC | 7 | 0.99168399168399 | 12 | 1443 | 50607702-50607713 |
| 883 | EGFR | 7 | 0.97522708505367 | 90 | 3633 | 55086971-55087058, 55220294, 55229232 |
| 884 | GUSB | 7 | 0.99079754601227 | 18 | 1956 | 65429367-65429379, 65446968-65446971, 65447130 |
| 885 | ASL | 7 | 0.95627240143369 | 61 | 1395 | 65553834, 65554078-65554085, 65554127-65554162, 65554278-65554283, 65554293-65554302 |
| 886 | KCTD7 | 7 | 0.83448275862069 | 144 | 870 | 66094052-66094195 |
| 887 | SBDS | 7 | 0.99070385126162 | 7 | 753 | 66456158-66456164 |
| 888 | NCF1 | 7 | 0.96121212121212 | 32 | 825 | 72640033-72640039, 72644233, 72645924-72645930, 72648734-72648750 |
| 889 | ELN | 7 | 0.96367816091954 | 79 | 2175 | 73442521-73442588, 73442595-73442599, 73466268-73466269, 73466275, 73466278, 73466282, 73466292 |
| 890 | NCF1 | 7 | 0.90281329923274 | 114 | 1173 | 74193665-74193671, 74202425-74202432, 74202916, 74202920, 74202940-74202972, 74202987-74203048, 74203416, 74203433 |
| 891 | POR | 7 | 0.96818404307391 | 65 | 2043 | 75614209, 75614212-75614213, 75614237, 75614240-75614247, 75614274, 75614437-75614487, 75614508 |
| 892 | HSPB1 | 7 | 0.89967637540453 | 62 | 618 | 75932061-75932062, 75932168-75932183, 75932189, 75932192-75932193, 75932230, 75932259-75932273, 75932279-75932287, 75932304, 75932307, 75932384-75932393, 75933485-75933488 |
| 893 | CD36 | 7 | 0.99436222692037 | 8 | 1419 | 80285954-80285961 |
| 894 | HGF | 7 | 0.98399634202103 | 35 | 2187 | 81399246-81399280 |
| 895 | ABCB4 | 7 | 0.99453125 | 21 | 3840 | 87031470-87031490 |
| 896 | AKAP9 | 7 | 0.99530876833845 | 55 | 11724 | 91609626-91609647, 91630255-91630256, 91714907-91714937 |
| 897 | PEX1 | 7 | 0.9966251298027 | 13 | 3852 | 92134129, 92157631, 92157646-92157654, 92157674-92157675 |
| 898 | COL1A2 | 7 | 0.99853694220922 | 6 | 4101 | 94049557-94049559, 94049918-94049920 |
| 899 | SGCE | 7 | 0.99631268436578 | 5 | 1356 | 94285325, 94285354-94285357 |
| 900 | SLC25A13 | 7 | 0.99261447562777 | 15 | 2031 | 95951254-95951268 |
| 901 | TFR2 | 7 | 0.97755610972569 | 54 | 2406 | 100224462-100224471, 100224518-100224525, 100225392, 100230661-100230664, 100230673-100230697, 100230703-100230706, 100230718, 100231150 |
| 902 | SLC26A5 | 7 | 0.99686800894855 | 7 | 2235 | 103033493-103033499 |
| 903 | RELN | 7 | 0.99865086248434 | 14 | 10377 | 103191627-103191629, 103191635, 103244841, 103244845-103244847, 103629732-103629733, 103629800-103629803 |
| 904 | SLC26A4 | 7 | 0.99829278702518 | 4 | 2343 | 107302101-107302103, 107302113 |
| 905 | IFRD1 | 7 | 0.99483775811209 | 7 | 1356 | 112102173-112102175, 112102184-112102187 |
| 906 | CFTR | 7 | 0.97366644159352 | 117 | 4443 | 117120174-117120176, 117188713-117188753, 117188760-117188800, 117188847-117188877, 117235072 |
| 907 | AASS | 7 | 0.99748291981302 | 7 | 2781 | 121769484, 121769487-121769492 |
| 908 | IMPDH1 | 7 | 0.87111111111111 | 232 | 1800 | 128035203-128035205, 128045825-128045919, 128049822-128049955 |
| 909 | FLNC | 7 | 0.98239178283199 | 144 | 8178 | 128470725-128470761, 128470825-128470826, 128470829, 128470852-128470899, 128471014-128471022, 128477281-128477311, 128482691-128482696, 128482699-128482706, 128482709, 128494592 |
| 910 | ATP6V0A4 | 7 | 0.99246928260008 | 19 | 2523 | 138394369-138394376, 138394381-138394387, 138394428-138394430, 138394487 |
| 911 | BRAF | 7 | 0.98392003476749 | 37 | 2301 | 140624390-140624392, 140624395, 140624404, 140624407-140624415, 140624418-140624419, 140624422, 140624468-140624474, 140624491-140624503 |
| 912 | PRSS1 | 7 | 0.89784946236559 | 76 | 744 | 142458434-142458454, 142459625-142459629, 142459664-142459682, 142459863-142459878, 142460313, 142460335, 142460339, 142460366-142460377 |
| 913 | CNTNAP2 | 7 | 0.98298298298298 | 68 | 3996 | 145813981-145813988, 145813994-145813997, 145814023, 147914475, 147914481-147914488, 148080742-148080787 |
| 914 | KCNH2 | 7 | 0.74281609195402 | 895 | 3480 | 150644115, 150644137-150644141, 150644443, 150644447-150644451, 150644460, 150644463, 150644476, 150644543-150644544, 150644555-150644558, 150644571-150644602, 150644694-150644833, 150644892, 150644925, 150644941, 150645533, 150645546-150645581, 150645594-150645604, 150648623-150648624, 150648860-150648862, 150648913, 150655148, 150655199-150655522, 150655546-150655549, 150655555-150655560, 150655563-150655565, 150671799-150672029, 150674926-150675001 |
| 915 | PRKAG2 | 7 | 0.95906432748538 | 70 | 1710 | 151329155-151329224 |
| 916 | SHH | 7 | 0.61627069834413 | 533 | 1389 | 155595594-155596080, 155596104-155596112, 155596122-155596124, 155596141-155596147, 155596150, 155596163, 155596195-155596210, 155596217-155596219, 155596303, 155596309, 155596372, 155596375, 155604813-155604814 |
| 917 | MNX1 | 7 | 0.33747927031509 | 799 | 1206 | 156798214-156798306, 156798312-156798355, 156798369-156798378, 156798387-156798397, 156798401, 156798405, 156798421-156798426, 156798437-156798447, 156798457-156798462, 156798465-156798472, 156798491-156798502, 156799217, 156799259-156799275, 156799284-156799285, 156799289, 156802373, 156802404-156802405, 156802431, 156802451-156802466, 156802471, 156802475-156802484, 156802488-156802489, 156802503-156803044 |
| 918 | CLN8 | 8 | 0.99419279907085 | 5 | 861 | 1719519, 1728665, 1728672-1728674 |
| 919 | MCPH1 | 8 | 0.99920255183413 | 2 | 2508 | 6264193-6264194 |
| 920 | GATA4 | 8 | 0.67945823927765 | 426 | 1329 | 11565822-11565836, 11565846-11565847, 11565909-11565910, 11565913-11565919, 11565949, 11565985-11566377, 11566393, 11566396-11566399, 11566401 |
| 921 | TUSC3 | 8 | 0.97134670487106 | 30 | 1047 | 15397995, 15398008-15398017, 15398023-15398041 |
| 922 | ASAH1 | 8 | 0.99915824915825 | 1 | 1188 | 17941497 |
| 923 | NEFL | 8 | 0.96078431372549 | 64 | 1632 | 24813005-24813007, 24813130-24813131, 24813140, 24813242, 24813314, 24813402-24813440, 24813656-24813668, 24813689, 24813701, 24813707, 24813747 |
| 924 | CHRNA2 | 8 | 0.99874213836478 | 2 | 1590 | 27320596, 27320610 |
| 925 | ADAM9 | 8 | 0.99715447154472 | 7 | 2460 | 38854660, 38854666, 38854671-38854673, 38854676, 38854679 |
| 926 | ANK1 | 8 | 0.97734457323498 | 129 | 5694 | 41553928, 41571716, 41581094, 41753873-41753998 |
| 927 | HGSNAT | 8 | 0.93815513626834 | 118 | 1908 | 42995640-42995757 |
| 928 | RP1 | 8 | 0.99953639313862 | 3 | 6471 | 55533915-55533917 |
| 929 | CHD7 | 8 | 0.99810985101179 | 17 | 8994 | 61654487-61654492, 61713009, 61713033, 61734594-61734596, 61749513-61749518 |
| 930 | TTPA | 8 | 0.78972520908005 | 176 | 837 | 63998405-63998580 |
| 931 | CYP7B1 | 8 | 0.92702169625247 | 111 | 1521 | 65711034-65711144 |
| 932 | TMEM70 | 8 | 0.99361430395913 | 5 | 783 | 74888517, 74888690-74888693 |
| 933 | CA2 | 8 | 0.95657726692209 | 34 | 783 | 86376311-86376344 |
| 934 | NBN | 8 | 0.99602649006623 | 9 | 2265 | 90960089, 90996755, 90996765-90996771 |
| 935 | TMEM67 | 8 | 0.99933065595716 | 2 | 2988 | 94827589-94827590 |
| 936 | GDF6 | 8 | 0.56359649122807 | 597 | 1368 | 97156806, 97156899, 97156919, 97156922, 97156985-97156987, 97156991, 97156998, 97157034-97157035, 97157100-97157103, 97157146-97157156, 97157159-97157160, 97157167-97157172, 97157181-97157182, 97157193-97157464, 97157470-97157512, 97157517-97157532, 97157535-97157581, 97157610-97157611, 97157620-97157673, 97157704-97157707, 97172656-97172691, 97172807-97172854, 97172882-97172920 |
| 937 | VPS13B | 8 | 0.99908287477072 | 11 | 11994 | 100123341-100123342, 100123366, 100494009, 100880662-100880666, 100883850, 100883856 |
| 938 | GRHL2 | 8 | 0.99946751863685 | 1 | 1878 | 102643926 |
| 939 | DPYS | 8 | 0.83076923076923 | 264 | 1560 | 105478885-105479148 |
| 940 | TRPS1 | 8 | 0.9966537966538 | 13 | 3885 | 116427278, 116427289-116427290, 116599298, 116599457, 116599461, 116631956-116631961, 116631968 |
| 941 | KIAA0196 | 8 | 0.99971264367816 | 1 | 3480 | 126044572 |
| 942 | KCNQ3 | 8 | 0.9159984726995 | 220 | 2619 | 133492490, 133492520-133492523, 133492535-133492617, 133492637-133492653, 133492665-133492779 |
| 943 | TG | 8 | 0.99867581557722 | 11 | 8307 | 133879246-133879256 |
| 944 | NDRG1 | 8 | 0.99493670886076 | 6 | 1185 | 134251154-134251156, 134274292, 134274308, 134274313 |
| 945 | CYP11B1 | 8 | 0.9537037037037 | 70 | 1512 | 143956380-143956412, 143957128-143957132, 143958572-143958602, 143961165 |
| 946 | CYP11B2 | 8 | 0.95304232804233 | 71 | 1512 | 143993946-143993994, 143994026-143994032, 143994069-143994081, 143994266, 143994702 |
| 947 | PLEC | 8 | 0.78313767342583 | 3048 | 14055 | 144990356-144990399, 144990515, 144990520-144990524, 144990528, 144990859, 144990862, 144991053-144991057, 144992084, 144992326-144992329, 144992391, 144992539, 144992591-144992597, 144992688-144992691, 144992799-144992831, 144993377, 144993402, 144993405-144993408, 144993588-144993611, 144993837, 144993853, 144993940-144993942, 144993970, 144993974, 144993992, 144994070-144994073, 144994386-144994394, 144994397-144994399, 144994405-144994408, 144994463-144994467, 144994486-144994490, 144994573, 144994585, 144994756, 144994759-144994760, 144994957-144994996, 144995032, 144995041-144995043, 144995072-144995097, 144995357-144995364, 144995448, 144995464, 144995521, 144995528, 144995598-144995599, 144995684, 144995702-144995705, 144995710-144995716, 144995802-144995836, 144995905-144995910, 144995922-144995923, 144995926-144995927, 144995960, 144995974-144995976, 144996160-144996201, 144996219-144996250, 144996252-144996259, 144996263, 144996284-144996292, 144996360, 144996363-144996394, 144996398-144996400, 144996403-144996408, 144996433-144996439, 144996508-144996523, 144996529-144996542, 144996546-144996549, 144996556-144996559, 144996563, 144996689-144996699, 144996742-144996743, 144996758-144996760, 144996786, 144996902, 144996958, 144996998-144997033, 144997060-144997072, 144997083, 144997094-144997101, 144997105-144997120, 144997125-144997133, 144997144-144997149, 144997172-144997173, 144997213, 144997217, 144997220-144997222, 144997231, 144997428-144997443, 144997447, 144997457-144997458, 144997465-144997473, 144997480, 144997483-144997490, 144997495, 144997510, 144997515, 144997519, 144997522-144997524, 144997563-144997565, 144997580, 144997604-144997605, 144997611-144997617, 144997626-144997633, 144997649, 144997656, 144997660-144997665, 144997683, 144997686, 144997722-144997723, 144997739-144997741, 144997749-144997750, 144997787, 144997825-144998032, 144998053-144998059, 144998068-144998104, 144998110-144998158, 144998166-144998408, 144998417-144998422, 144998443-144998530, 144998556-144998588, 144998594-144998674, 144998689-144998733, 144998744-144998839, 144998847-144999007, 144999029-144999088, 144999098-144999126, 144999136-144999148, 144999154-144999503, 144999509-144999515, 144999538-144999542, 144999547, 144999553-144999562, 144999589-144999596, 144999602-144999857, 144999892-144999895, 144999906-144999911, 144999917-144999918, 144999938-144999940, 144999964-144999968, 144999976-144999978, 144999985-144999990, 144999992-145000041, 145001489, 145001588, 145001594, 145001744, 145001839-145001853, 145001882-145001921, 145003276-145003277, 145003288, 145003293-145003298, 145003308, 145003311-145003312, 145003331-145003347, 145003352-145003370, 145003373, 145003376, 145003385-145003396, 145003409-145003410, 145003582-145003620, 145003628-145003642, 145003817-145003819, 145003822-145003825, 145003828-145003848, 145003856, 145003861-145003865, 145003948-145003968, 145004167, 145004218-145004219, 145004375-145004381, 145004390, 145004588-145004590, 145006150, 145006175-145006200, 145006298-145006323, 145006374, 145006397, 145006401-145006402, 145006571-145006588, 145006669, 145006692, 145006804-145006825, 145006836-145006856, 145006873-145006880, 145008176-145008178, 145008182, 145008209-145008216, 145008242-145008259, 145009044-145009092, 145024375-145024378, 145024381-145024382, 145024385, 145024483-145024485, 145024571, 145024850-145024852, 145024869, 145024873-145024874 |
| 948 | GPT | 8 | 0.8148893360161 | 276 | 1491 | 145730632, 145731231-145731310, 145731383-145731390, 145731397, 145731466-145731487, 145731495-145731514, 145731615, 145731656-145731659, 145731669-145731673, 145731678-145731708, 145731722-145731730, 145731750, 145731753-145731755, 145731776-145731778, 145731788-145731789, 145731884-145731892, 145731903-145731947, 145731983-145731987, 145731995-145732002, 145732008, 145732017, 145732021, 145732026-145732039, 145732305 |
| 949 | RECQL4 | 8 | 0.89771160738903 | 371 | 3627 | 145737094, 145737415, 145738343, 145738698-145738722, 145738745-145738753, 145738763-145738768, 145738777-145738784, 145738795-145738843, 145738955-145739002, 145739074-145739096, 145739320-145739323, 145739382-145739385, 145739391, 145739400, 145739407, 145739415, 145741656, 145741659-145741660, 145742810-145742864, 145742876-145742882, 145742888-145742892, 145742986-145743019, 145743085-145743168 |
| 950 | DOCK8 | 9 | 0.98269841269841 | 109 | 6300 | 214977-215029, 382562-382589, 382615-382631, 452030-452033, 452045-452051 |
| 951 | VLDLR | 9 | 0.97063310450038 | 77 | 2622 | 2622190-2622247, 2622253-2622271 |
| 952 | KCNV2 | 9 | 0.90903540903541 | 149 | 1638 | 2717968, 2717974-2717976, 2717987-2717994, 2718004-2718044, 2718260, 2718281, 2718323-2718346, 2718370, 2718398, 2718401-2718402, 2718409, 2718415-2718416, 2718534-2718535, 2718546-2718569, 2718729-2718738, 2718743-2718746, 2718749, 2718956-2718962, 2718967-2718968, 2718971, 2718982, 2718984-2718993, 2719046 |
| 953 | GLIS3 | 9 | 0.94951664876477 | 141 | 2793 | 3856042-3856049, 4117819-4117821, 4118024-4118069, 4118107-4118114, 4118179-4118186, 4118191-4118196, 4118201-4118203, 4118208-4118209, 4118225-4118273, 4118293, 4118297, 4118312-4118313, 4118316, 4118321-4118322, 4118325 |
| 954 | JAK2 | 9 | 0.9997057958223 | 1 | 3399 | 5077521 |
| 955 | GLDC | 9 | 0.97159647404505 | 87 | 3063 | 6645251, 6645348-6645356, 6645359, 6645363-6645365, 6645373-6645391, 6645406, 6645432-6645484 |
| 956 | CDKN2A | 9 | 0.86411889596603 | 64 | 471 | 21971157, 21971167, 21971170, 21971173-21971175, 21974760-21974776, 21974786-21974826 |
| 957 | CDKN2A | 9 | 0.92911877394636 | 37 | 522 | 21971157, 21971167, 21971170, 21971173-21971175, 21994205-21994216, 21994219-21994221, 21994252, 21994282, 21994285-21994288, 21994354-21994357, 21994360-21994361, 21994365, 21994428, 21994438, 21994442 |
| 958 | TOPORS | 9 | 0.99267049075844 | 23 | 3138 | 32550787, 32550806-32550811, 32550818, 32550950-32550964 |
| 959 | B4GALT1 | 9 | 0.89557226399332 | 125 | 1197 | 33166874, 33166906-33166907, 33166913, 33166917-33166928, 33166937-33166942, 33166947, 33167026, 33167053-33167069, 33167079-33167131, 33167137-33167167 |
| 960 | VCP | 9 | 0.99917389508468 | 2 | 2421 | 35072336-35072337 |
| 961 | FANCG | 9 | 0.99946495452113 | 1 | 1869 | 35079494 |
| 962 | NPR2 | 9 | 0.99236641221374 | 24 | 3144 | 35792406-35792412, 35792420, 35792430-35792437, 35792692, 35792739-35792745 |
| 963 | GNE | 9 | 0.9973474801061 | 6 | 2262 | 36217418, 36217429, 36217476, 36234056-36234058 |
| 964 | FXN | 9 | 0.86413902053712 | 86 | 633 | 71650699-71650700, 71650714-71650718, 71650743-71650748, 71650752, 71650757, 71650763, 71650772-71650777, 71650783, 71650786-71650793, 71650804-71650817, 71650823-71650863 |
| 965 | TMC1 | 9 | 0.99605781865966 | 9 | 2283 | 75369740, 75369757, 75369781-75369785, 75403385-75403386 |
| 966 | VPS13A | 9 | 0.99842519685039 | 15 | 9525 | 79792711, 79820229, 79841404-79841406, 79841475, 79908422-79908424, 79928926, 79931234-79931237, 79932611 |
| 967 | AUH | 9 | 0.93235294117647 | 69 | 1020 | 94124090-94124104, 94124118-94124171 |
| 968 | ROR2 | 9 | 0.9579802259887 | 119 | 2832 | 94486025, 94495605-94495645, 94712169-94712245 |
| 969 | FANCC | 9 | 0.99940369707812 | 1 | 1677 | 97912296 |
| 970 | PTCH1 | 9 | 0.9445211786372 | 241 | 4344 | 98209523-98209526, 98239920, 98239935, 98268689-98268807, 98270479-98270484, 98270506-98270510, 98270523, 98270530, 98270541-98270643 |
| 971 | FOXE1 | 9 | 0.13458110516934 | 971 | 1122 | 100616197-100617143, 100617167-100617190 |
| 972 | TGFBR1 | 9 | 0.93584656084656 | 97 | 1512 | 101867488-101867584 |
| 973 | ALG2 | 9 | 0.98161470823341 | 23 | 1251 | 101983912-101983919, 101984068, 101984088-101984091, 101984134, 101984137-101984145 |
| 974 | INVS | 9 | 0.99186991869919 | 26 | 3198 | 102988476, 103046718-103046740, 103046743-103046744 |
| 975 | ABCA1 | 9 | 0.99764220453876 | 16 | 6786 | 107556715-107556726, 107556787-107556790 |
| 976 | MUSK | 9 | 0.99310344827586 | 18 | 2610 | 113547817-113547818, 113547850-113547865 |
| 977 | DFNB31 | 9 | 0.92621145374449 | 201 | 2724 | 117266645, 117266692-117266716, 117266784, 117266787, 117266800-117266834, 117266841-117266854, 117266859, 117266862-117266874, 117266910-117266920, 117266927-117266928, 117266931-117266936, 117266939-117266945, 117266948, 117266969-117266980, 117266995-117267038, 117267050-117267061, 117267067-117267081 |
| 978 | GSN | 9 | 0.97190293742018 | 66 | 2349 | 124062166-124062229, 124062250, 124065219 |
| 979 | NR5A1 | 9 | 0.86435786435786 | 188 | 1386 | 127245146-127245155, 127245160-127245174, 127245188-127245192, 127255324-127255325, 127262457, 127262461, 127262543-127262544, 127262737-127262740, 127262780, 127265406-127265427, 127265451-127265478, 127265486-127265499, 127265573-127265600, 127265608-127265640, 127265652-127265673 |
| 980 | LMX1B | 9 | 0.71581769436997 | 318 | 1119 | 129376854-129376859, 129377662-129377848, 129455573, 129456025-129456066, 129456081-129456083, 129456087-129456091, 129458124, 129458130-129458139, 129458156-129458174, 129458199-129458242 |
| 981 | STXBP1 | 9 | 0.97902869757174 | 38 | 1812 | 130374683-130374719, 130416010 |
| 982 | ENG | 9 | 0.98684876074861 | 26 | 1977 | 130588066, 130588077, 130616582-130616605 |
| 983 | DOLK | 9 | 0.99752628324057 | 4 | 1617 | 131708924-131708927 |
| 984 | TOR1A | 9 | 0.94694694694695 | 53 | 999 | 132586187-132586188, 132586303, 132586315-132586364 |
| 985 | POMT1 | 9 | 0.99494949494949 | 11 | 2178 | 134393887-134393894, 134394816-134394818 |
| 986 | SETX | 9 | 0.99788399302962 | 17 | 8034 | 135139866, 135139869, 135139885, 135203654-135203667 |
| 987 | TTF1 | 9 | 0.99411331861663 | 16 | 2718 | 135277384-135277399 |
| 988 | CEL | 9 | 0.8075737560546 | 437 | 2271 | 135946481-135946487, 135946491-135946492, 135946505, 135946510-135946513, 135946520, 135946579, 135946644-135947064 |
| 989 | SURF1 | 9 | 0.92801771871539 | 65 | 903 | 136223129-136223132, 136223136, 136223164-136223169, 136223276-136223329 |
| 990 | ADAMTS13 | 9 | 0.95121381886088 | 209 | 4284 | 136293754-136293891, 136295059-136295097, 136295118-136295130, 136295171-136295185, 136301949, 136302009, 136302059-136302060 |
| 991 | DBH | 9 | 0.99029126213592 | 18 | 1854 | 136505002-136505008, 136522259, 136523499-136523503, 136523508-136523511, 136523527 |
| 992 | SARDH | 9 | 0.98766775480595 | 34 | 2757 | 136531943-136531951, 136535726-136535744, 136568108, 136568111, 136573412, 136573416, 136599010, 136599292 |
| 993 | COL5A1 | 9 | 0.97716150081566 | 126 | 5517 | 137534034-137534142, 137630637, 137705842-137705844, 137705851, 137705867-137705870, 137705873, 137710588-137710594 |
| 994 | LHX3 | 9 | 0.75930521091811 | 291 | 1209 | 139089294-139089339, 139089354-139089362, 139089369, 139089372-139089377, 139090569-139090570, 139090754-139090905, 139091722, 139091726, 139094792, 139094800, 139094805, 139094815-139094884 |
| 995 | INPP5E | 9 | 0.78811369509044 | 410 | 1935 | 139326359, 139326362-139326366, 139327014-139327017, 139327028, 139327037, 139327683, 139329277-139329280, 139333133-139333169, 139333201, 139333292-139333353, 139333361-139333364, 139333469-139333532, 139333592-139333641, 139333653-139333661, 139333675, 139333694, 139333708-139333871 |
| 996 | NOTCH1 | 9 | 0.94600938967136 | 414 | 7668 | 139390576-139390589, 139390826, 139390834, 139390843, 139390854-139390856, 139390916-139390925, 139390952-139390971, 139390987-139391020, 139391192-139391198, 139391279-139391292, 139391310, 139391314-139391324, 139391334-139391349, 139391398, 139391403-139391405, 139391416, 139391539-139391543, 139391547-139391551, 139391556, 139391625-139391628, 139391636, 139391778, 139391788-139391789, 139391792, 139391804-139391807, 139391817-139391819, 139391823-139391824, 139391839-139391849, 139391856-139391871, 139391894-139391907, 139391954-139391959, 139391970-139391971, 139391975-139391977, 139391990-139391997, 139395098-139395105, 139396286-139396287, 139396813-139396854, 139399205-139399209, 139399265-139399266, 139399280, 139399316, 139399951, 139399954, 139400160, 139400171, 139400183-139400185, 139400210, 139400214-139400215, 139400220-139400221, 139402688-139402723, 139403366-139403373, 139411767, 139411827, 139412373, 139417514, 139417581, 139417597, 139417608-139417610, 139440178-139440238 |
| 997 | AGPAT2 | 9 | 0.80764635603345 | 161 | 837 | 139571103, 139571106, 139581651-139581809 |
| 998 | SLC34A3 | 9 | 0.86388888888889 | 245 | 1800 | 140127692-140127693, 140127702-140127703, 140127714-140127717, 140127725-140127726, 140127735, 140127741-140127746, 140127757, 140128132-140128133, 140128154-140128157, 140128320-140128384, 140128576-140128651, 140128657-140128671, 140128692-140128695, 140128868-140128873, 140128876-140128881, 140128896-140128900, 140128915, 140130725-140130731, 140130749-140130776, 140130855-140130860, 140130867-140130868 |
| 999 | EHMT1 | 9 | 0.97125994354632 | 112 | 3897 | 140513481-140513501, 140605432-140605433, 140605438-140605475, 140729264-140729305, 140729315, 140729324-140729325, 140729328, 140729356, 140729379-140729380, 140729385-140729386 |
| 1000 | SHOX | X | 0.81114903299204 | 166 | 879 | 591766, 595453-595499, 595530-595534, 595544, 595554-595561, 605191-605192, 605197-605203, 605208, 605251-605343, 605367 |
| 1001 | KAL1 | X | 0.94713656387665 | 108 | 2043 | 8699933-8699937, 8699975-8700077 |
| 1002 | GPR143 | X | 0.94901960784314 | 65 | 1275 | 9733613-9733620, 9733664-9733720 |
| 1003 | CDKL5 | X | 0.99870675719366 | 4 | 3093 | 18646676, 18646679-18646681 |
| 1004 | SMS | X | 0.95549500454133 | 49 | 1101 | 21958943-21958991 |
| 1005 | ARX | X | 0.76613380698638 | 395 | 1689 | 25025386, 25025400-25025406, 25031277-25031280, 25031333-25031358, 25031369-25031373, 25031442-25031482, 25031492-25031499, 25031510-25031812 |
| 1006 | RPGR | X | 0.90199479618387 | 339 | 3459 | 38145329-38145337, 38145350-38145679 |
| 1007 | NYX | X | 0.55809128630705 | 639 | 1446 | 41332834-41333306, 41333317, 41333320-41333321, 41333324-41333331, 41333340-41333454, 41333496-41333507, 41333516-41333539, 41333720-41333722, 41333725 |
| 1008 | SYN1 | X | 0.81586402266289 | 390 | 2118 | 47433504-47433508, 47433511-47433516, 47433529-47433532, 47433582-47433797, 47433820-47433824, 47433834-47433839, 47433956-47433958, 47434124-47434130, 47478756-47478758, 47478771-47478772, 47478805-47478852, 47478906-47478931, 47478969-47478982, 47478986, 47478992-47478997, 47479003, 47479054-47479066, 47479104-47479127 |
| 1009 | WAS | X | 0.98873426110007 | 17 | 1509 | 48547184-48547186, 48547189-48547195, 48547206-48547210, 48547233, 48547303 |
| 1010 | SYP | X | 0.99256900212314 | 7 | 942 | 49056610-49056611, 49056621-49056625 |
| 1011 | CACNA1F | X | 0.99983147960903 | 1 | 5934 | 49087371 |
| 1012 | FOXP3 | X | 0.99614197530864 | 5 | 1296 | 49107821-49107825 |
| 1013 | FGD1 | X | 0.98613998613999 | 40 | 2886 | 54494256-54494259, 54521795-54521802, 54521825-54521852 |
| 1014 | AR | X | 0.95439739413681 | 126 | 2763 | 66765154-66765196, 66765216, 66765219-66765225, 66766204-66766232, 66766365-66766410 |
| 1015 | EDA | X | 0.99659863945578 | 4 | 1176 | 68836200-68836203 |
| 1016 | DLG3 | X | 0.99511002444988 | 12 | 2454 | 69665103, 69665160-69665163, 69665166-69665167, 69665252-69665255, 69665400 |
| 1017 | MED12 | X | 0.99540863177227 | 30 | 6534 | 70338605-70338616, 70338626-70338631, 70338695-70338698, 70338702-70338703, 70360626, 70360629, 70360635, 70360680-70360682 |
| 1018 | TAF1 | X | 0.96832101372756 | 180 | 5682 | 70586165-70586344 |
| 1019 | SLC16A2 | X | 0.96959826275787 | 56 | 1842 | 73641302-73641327, 73641335-73641341, 73641403-73641407, 73641419, 73641457-73641462, 73641466, 73641470-73641474, 73641480, 73641483-73641486 |
| 1020 | BRWD3 | X | 0.99426881124053 | 31 | 5409 | 80064940-80064970 |
| 1021 | PCDH19 | X | 0.99969751966122 | 1 | 3306 | 99663574 |
| 1022 | GPC3 | X | 0.99713138267355 | 5 | 1743 | 133119391-133119395 |
| 1023 | HPRT1 | X | 0.95890410958904 | 27 | 657 | 133594342-133594368 |
| 1024 | SLC9A6 | X | 0.997150997151 | 6 | 2106 | 135067915-135067919, 135067944 |
| 1025 | ZIC3 | X | 0.95512820512821 | 63 | 1404 | 136648985-136648987, 136649001, 136651088-136651090, 136651094, 136651100-136651154 |
| 1026 | SOX3 | X | 0.5413870246085 | 615 | 1341 | 139585885-139585889, 139585900-139585905, 139585930-139585942, 139585952-139586118, 139586136-139586524, 139586634, 139586760, 139586813-139586839, 139586848-139586850, 139586931-139586933 |
| 1027 | FAM58A | X | 0.94421768707483 | 41 | 735 | 152864462-152864480, 152864483-152864497, 152864510, 152864516-152864521 |
| 1028 | SLC6A8 | X | 0.85901467505241 | 269 | 1908 | 152954030-152954291, 152960626-152960632 |
| 1029 | ABCD1 | X | 0.98882931188561 | 25 | 2238 | 152990960-152990961, 153008473-153008486, 153008675-153008678, 153009062, 153009069, 153009075, 153009078, 153009086 |
| 1030 | MECP2 | X | 0.95858383433534 | 62 | 1497 | 153363061-153363122 |
| 1031 | OPN1LW | X | 0.99908675799087 | 1 | 1095 | 153418541 |
| 1032 | OPN1MW | X | 0.99360730593607 | 7 | 1095 | 153455595-153455601 |
| 1033 | OPN1MW | X | 0.99360730593607 | 7 | 1095 | 153492713-153492719 |
| 1034 | FLNA | X | 0.99937059415911 | 5 | 7944 | 153599566-153599568, 153599584, 153599592 |
| 1035 | EMD | X | 0.93464052287582 | 50 | 765 | 153607845-153607847, 153607872-153607875, 153607917, 153608093-153608097, 153608109-153608111, 153608121-153608154 |
| 1036 | TAZ | X | 0.98225602027883 | 14 | 789 | 153640208-153640215, 153640238-153640243 |
| 1037 | G6PD | X | 0.9957264957265 | 7 | 1638 | 153760221-153760222, 153775039, 153775042-153775045 |
| 1038 | IKBKG | X | 0.97540983606557 | 36 | 1464 | 153788622-153788641, 153792557-153792572 |
| 1039 | IKBKG | X | 0.96728016359918 | 16 | 489 | 153868355-153868370 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 5 | MYH9-R1466W | homozygous | 0.016 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 4 | PKP2-S140F | het unknown | 0.008 | Dominant pathogenic | Low clinical importance, uncertain | Implicated as causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in a dominant manner. However, it fails to segregate with disease in studied families and has also been seen in controls. It is unclear whether there is any significant enrichment for this variant in patients -- even if so, we estimate the increased risk of ARVD for a carrier of this variant to be quite low (less than .1%). |
| 4 | LPL-N318S | het unknown | 0.005 | Dominant pathogenic | Moderate clinical importance, uncertain | Also called N291S, this variant has been associated with high hypertriglyceridemia. According to data from Wright et al., carriers of this variant may be two to three times more likely to have very high triglyceride levels, although it is unknown what effect this may have on coronary heart disease. |
| 3 | CASP10-V410I | het unknown | 0.031 | Dominant protective | Low clinical importance, likely | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). |
| 3 | CASP10-L522I | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 3 | TPMT-Y240C | homozygous | 0.037 | Complex/Other pharmacogenetic | Low clinical importance, well-established | Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. |
| 3 | TPMT-A154T | homozygous | 0.031 | Recessive pharmacogenetic | Low clinical importance, likely | Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. |
| 2.5 | COL4A1-Q1334H | homozygous | 0.292 | Dominant pathogenic | Low clinical importance, likely | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. |
| 2.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SEMA4A-R713Q | het unknown | 0.062 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 2 | XYLT1-A115S | het unknown | 0.009 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.036 (benign) |
| 2 | ITGAM-R77H | het unknown | 0.095 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.048 (benign) |
| 2 | ITGAM-A859V | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | ITGAM-P1147S | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | PPARG-P12A | het unknown | 0.051 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests |
| 1.375 | PEX2-W250R | het unknown | 0.008 | Recessive pathogenic | High clinical importance, uncertain | Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause severe disorders involving defects in peroxisomes. |
| 1.375 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.25 | SP110-M523T | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.25 | SP110-L425S | het unknown | 0.875 | Unknown pathogenic | Low clinical importance, uncertain | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. |
| 1.25 | SP110-G299R | het unknown | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.25 | SP110-A206V | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.25 | SP110-W112R | het unknown | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ADD1-G460W | het unknown | 0.232 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging) |
| 1 | ADD1-S617C | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CCR5-S185Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PKD1L2-L2414F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | PKD1L2-M2313I | homozygous | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-G2257D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | PKD1L2-S2207T | het unknown | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-S2207T | het unknown | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-S2137F | homozygous | 0.870 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-L2117I | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-Y2079Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PKD1L2-A2054T | homozygous | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-Y2048S | homozygous | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-P2045L | homozygous | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-Q2035R | homozygous | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-M1866V | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-G1847R | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-Q1701H | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-S1665Y | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-K1575* | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 1 | PKD1L2-N1330D | het unknown | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | PKD1L2-N1330D | het unknown | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | PKD1L2-S1326P | het unknown | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-A863V | homozygous | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-L711P | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-P512L | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-K416Q | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-P301A | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-R252W | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-N236Shift | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 1 | PKD1L2-E221G | homozygous | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-Q220* | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 1 | PKD1L2-V183I | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-G129D | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-Q120L | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-W73R | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PKD1L2-V20A | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ELAC2-S217L | het unknown | 0.209 | Complex/Other pathogenic | Low clinical importance, uncertain | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). |
| 1 | CILP-G1166S | homozygous | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-I395T | het unknown | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | CHRNA5-D398N | het unknown | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign) |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | BMP3-Y67N | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 1 | BMP3-L205F | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.17 (benign) |
| 1 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SEBOX-L207S | het unknown | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AKAP10-I646V | het unknown | 0.434 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AKAP10-R249H | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | NEB-I6534V | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-A6277P | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-T4980I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-R4389T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-W3348C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | NEB-P2846L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-K2613N | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-P225L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ABCG8-Y54C | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 1 | ABCG8-R543S | het unknown | 0.008 | Recessive pathogenic | High clinical importance, uncertain | This variant is predicted to cause sitosterolemia (inability to break down plant sterols) in a recessive manner, although this finding lacked statistical significance. Sitosterolemia may be underdiagnosed as it has symptoms similar to hypercholesterolemia and hyperlipidemia. |
| 1 | ABCG8-V632A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PRODH2-P91R | homozygous | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests |
| 1 | TTN-R30395H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I29477T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V28135M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I26820T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I25199V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-D24019H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-E22033Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R21422H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V19783I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T18827I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-N16125D | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-A14593V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-IAPEEE10816Del | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-G9378R | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-I9278V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-T8694S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-N7559S | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-R7402C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S7181N | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-A7111E | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-E6900A | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-D6218H | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S3419N | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3261M | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-R1441P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K1201E | het unknown | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-R328C | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-D60Y | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Low clinical importance, uncertain | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. |
| 1 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | BLMH-I443V | het unknown | 0.241 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AKAP1-A18V | homozygous | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 1 | NR_027127-W61* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | NAT2-R197Q | homozygous | 0.272 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | NAT2-R268K | homozygous | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-K395E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SLCO1B1-N130D | het unknown | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | SLCO1B1-V174A | het unknown | 0.097 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | MTHFR-E429A | homozygous | 0.243 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-V1188E | het unknown | 0.086 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-C1515Y | het unknown | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AK094914-T33Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AK094914-M25Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ARMS2-A69S | homozygous | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HTATSF1-H401R | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | VDR-M1T | homozygous | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | DGKK-D1111N | homozygous | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HUS1B-D268Y | homozygous | 0.693 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HUS1B-H130Q | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 1 | NR3C1-N363S | het unknown | 0.020 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 1 | AX746964-G175Shift | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AX746964-K166I | homozygous | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MTHFD1-K134R | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MTHFD1-R653Q | homozygous | 0.320 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign) |
| 1 | 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 | ABCB1-S893A | het unknown | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | ABCB1-N21D | het unknown | 0.044 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AIM1-Q293P | homozygous | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 1 | AIM1-C1395Y | homozygous | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
| 1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TNXB-W458C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TNXB-R48P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | CDKN1A-S31R | het unknown | 0.271 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | CYP2D6-H94R | homozygous | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CYP2D6-L91M | homozygous | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CYP2D6-P34S | homozygous | 0.224 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-V168I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-G528S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-E603Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF880-N106Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF880-N140NN | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF880-R198S | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF880-N202H | homozygous | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF880-C413F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF880-K471R | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PADI6-V671I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | DPYD-M166V | het unknown | 0.050 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 1 | DPYD-R29C | het unknown | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ALG6-S306F | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | FUT2-W154* | homozygous | 0.364 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 1 | FUT2-G258S | homozygous | 0.390 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.954 (probably damaging) |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HRNR-R2761Q | homozygous | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-S799T | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G427D | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-H273Q | homozygous | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | EPHX1-Y113H | homozygous | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 1 | AMPD1-P48L | het unknown | 0.047 | Unknown benign | Low clinical importance, uncertain | Probably benign, ancestral to15173240 pathogenic Q12X mutation. |
| 1 | AMPD1-Q12* | het unknown | 0.041 | Recessive pathogenic | Low clinical importance, likely | Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly. |
| 1 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | PCSK9-R46L | het unknown | 0.011 | Unknown protective | Moderate clinical importance, likely | This variant is reported to have a dominant protective effect against coronary heart disease. Carriers of this variant have about half the risk of coronary heart disease compared to non-carriers (6.3% risk in carriers vs. 11.8% risk in non-carriers). |
| 1 | PCSK9-V474I | het unknown | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.75 | PRNP-M129V | het unknown | 0.258 | Complex/Other protective | Low clinical importance, well-established | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. |
| 0.75 | NPC1-I858V | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-M642I | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-H215R | het unknown | 0.222 | Complex/Other protective | Low clinical importance, likely | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). |
| 0.75 | KCNJ11-V337I | het unknown | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | KCNJ11-L270V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | KCNJ11-K23E | het unknown | 0.711 | Unknown protective | Low clinical importance, likely | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. |
| 0.625 | TEP1-S1195P | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | TEP1-R1055C | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | TEP1-V667Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | BRCA2-N372H | het unknown | 0.230 | Recessive pathogenic | Low clinical importance, uncertain | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. |
| 0.625 | BRCA2-V2466A | homozygous | 0.954 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | MTRR-I49M | het unknown | 0.313 | Recessive pathogenic | Low clinical importance, likely | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. |
| 0.625 | MTRR-S202L | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HGF-E304K | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-G656D | het unknown | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-L24S | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RARS2-V235M | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CASP8AP2-T1567Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CASP8AP2-S1568Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CASP8AP2-P1659S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.136 (benign) |
| 0.5 | GBP5-A119V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
| 0.5 | BCLAF1-S209C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PMS2-K541E | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PMS2-T485K | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PMS2-P470S | het unknown | Unknown benign | Low clinical importance, likely | Benign, common variant. | |
| 0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DNAH11-E34L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | homozygous | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V3715L | homozygous | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TIAM2-R332H | homozygous | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TIAM2-R973W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.959 (probably damaging) |
| 0.5 | TIAM2-S1089P | homozygous | 0.970 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GARS-P42A | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-L8741M | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-G8323A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-E4060D | het unknown | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ELN-G422S | homozygous | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ELN-G581R | het unknown | 0.048 | Unknown benign | Low clinical importance, uncertain | Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data). |
| 0.5 | NPSR1-N107I | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NPSR1-Q344R | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FANCE-S204L | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCE-A502T | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EYS-R2326Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-N1902I | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L1419S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L852P | het unknown | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-E641V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-G631S | het unknown | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-Q571R | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PPM1J-G488R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | PPM1J-V236I | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL11A1-S1547P | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-P1335L | homozygous | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PAK1IP1-G124R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | FLT4-R1146H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLT4-N149D | het unknown | 0.023 | Unknown benign | Low clinical importance, likely | Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect. |
| 0.5 | SLC34A1-T413A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | F12-A207P | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | F12-L120H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.656 (possibly damaging), 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 | ADAMTS2-P1177S | homozygous | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ADAMTS2-R827Q | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.876 (probably damaging) |
| 0.5 | ADAMTS2-V245I | het unknown | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HLA-L-I30V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-L-R38Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-L-A142V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-L-W144* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | HLA-L-C172Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NRM-R240C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.9 (probably damaging) |
| 0.5 | DNAH8-T3707M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | DNAH8-I4271V | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMED5-Q188* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | TMED5-T175I | homozygous | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.722 (possibly damaging) |
| 0.5 | PKHD1-Q4048R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | het unknown | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | homozygous | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MFN2-V705I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-Q253H | het unknown | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-R252H | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-F41Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | AX747691-Q90Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AX747691-A34T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TNXB-G2518E | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-C34Y | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Y48F | homozygous | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-E73L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-Q152H | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q152H | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q198E | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-M230V | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A3-S400A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SLC26A3-R399Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | LEPR-K109R | homozygous | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.5 | LEPR-Q223R | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ACTL7A-R395G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | DFNB31-N796K | homozygous | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | homozygous | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-A440T | homozygous | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA1-K1587R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-R219K | het unknown | 0.498 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KIAA1539-T341Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PLEC-T4044M | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-R2969H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEC-S2791P | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-H1459R | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-R706Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-A641V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-R1005Q | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-R902Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK8-A22V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-D63N | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-P97T | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-N413S | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.19 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-A597V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests |
| 0.5 | DDX58-R546Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GSN-R481C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.505 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SETX-I2587V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNKSR1-P284Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | KIAA1217-A887T | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | KIAA1217-R1627S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | PTCHD3-*768Q | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-M521T | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | PTCHD3-C407G | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | OR13A1-Y269Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TUBAL3-R250W | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | EXD3-V504M | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-E322D | homozygous | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-D287N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | EXD3-R220Q | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-A160T | het unknown | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-R20Q | homozygous | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK8-D130G | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | AK8-I5T | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BMP8B-R389H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | SNAPC4-G1342R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ENTPD2-A103V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SCRIB-V674E | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SCRIB-E466Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.935 (probably damaging) |
| 0.5 | SCRIB-P422L | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SLC30A8-R325W | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CYP4A22-R126W | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4A22-G130S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | CYP4A22-N152Y | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4A22-C231R | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4A22-L428P | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-P727L | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-G920R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOS3-D298E | homozygous | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FAAH-P129T | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 0.5 | NAA38-R11* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | LAMB1-I1547T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PON1-L55M | homozygous | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | LRP8-D46E | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RBM33-Q813R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) | |
| 0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GGH-T151I | het unknown | 0.089 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.846 (possibly damaging) |
| 0.5 | GGH-A31T | het unknown | 0.198 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | COL9A2-L335V | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM67-I604V | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FOXJ3-M595T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FOXJ3-T377P | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FOXJ3-V162A | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PPCS-S199C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | ASAH1-V246A | homozygous | 0.797 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-D124E | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-I93V | homozygous | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-V72M | homozygous | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TOE1-R341H | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SLC18A1-L392V | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | SLC18A1-I136T | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC18A1-S98T | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | SLC18A1-T4P | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUTYH-Q311H | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.017 (benign), Testable gene in GeneTests |
| 0.5 | MUTYH-V8M | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCDHB16-R202Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | PCDHB16-Q638H | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB16-A710V | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | GALNT10-R86H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | COL4A3-L141P | homozygous | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFHR2-C72Y | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | ATG16L1-T300A | homozygous | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | COL4A4-S1400P | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | homozygous | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R1767Q | het unknown | 0.491 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPS1-T344A | homozygous | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPS1-T1406N | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VIL1-R478W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CCDC108-D1234G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | CCDC108-M66L | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | CFH-V62I | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-H402Y | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-E936D | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-T3069I | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A3012P | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2988V | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2927T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMC2-T124M | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLXNB1-W656C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | PLXNB1-P435S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | GBE1-I334V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-R190G | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USP21-P91S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | SLC6A20-T199M | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | FAM129A-R34H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | AGXT-P11L | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGXT-I340M | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PASK-T1195M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PASK-V250I | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ITPR1-M769V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.59 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EFHB-A550Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | EFHB-T382I | homozygous | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EFHB-V331I | het unknown | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALS2-R1653C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALS2-V368M | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALS2-I94V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-L2647I | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | ALK-D1529E | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-K1491R | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PM20D1-N467H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PM20D1-R153W | homozygous | 0.245 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PM20D1-I149V | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | XDH-I703V | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests |
| 0.5 | XDH-I646V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | USH2A-E3411A | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-N3199D | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-T3115A | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-L2886F | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-V2562A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | het unknown | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GCKR-L446P | het unknown | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | EDARADD-M9I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OTOF-F303L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OTOF-R82C | homozygous | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAJC5G-G27S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | EIF2B4-R326G | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP2B4-S1053F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | NR_003131-R64C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NR_003131-Q17Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ABCB11-V444A | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL5A2-T1230R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM51-P251L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | GLI2-A1156S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-D1306N | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MPHOSPH10-E69A | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.668 (possibly damaging) |
| 0.5 | MPHOSPH10-E229D | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MPHOSPH10-L425M | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | MPHOSPH10-E634K | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | ALMS1-R392C | het unknown | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S524SP | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-G1414A | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-I1875V | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-I2070T | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S2111R | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R2284P | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R2826S | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-N2856S | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-T3542S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH6-H55Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) | |
| 0.5 | DNAH6-V141M | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH6-V786I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.339 (possibly damaging) | |
| 0.5 | SNRNP200-L403M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SNRNP200-M387V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IMPG2-N918D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | IMPG2-T674I | homozygous | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ERBB2IP-S274L | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ERBB2IP-L334F | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | CCDC125-R97* | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | CCDC125-V13M | homozygous | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.134 (benign) |
| 0.5 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R3564L | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-Y3105D | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL7R-S453P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RAD1-G114D | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | S100A7A-R23H | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.922 (probably damaging) |
| 0.5 | UFSP2-K103R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | TLR3-L412F | het unknown | 0.200 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | DNAH5-I4450V | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T3791I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I766L | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-G24E | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CMYA5-Y64C | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMYA5-K166R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.683 (possibly damaging) |
| 0.5 | CMYA5-G349D | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMYA5-G591D | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMYA5-F594L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CMYA5-S651R | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMYA5-V1006A | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.074 (benign) |
| 0.5 | CMYA5-F1038L | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.707 (possibly damaging) |
| 0.5 | CMYA5-A1295V | homozygous | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMYA5-I1309V | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | CMYA5-A1333V | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | CMYA5-I1380V | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMYA5-A1567E | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | CMYA5-S1599A | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.831 (possibly damaging) |
| 0.5 | CMYA5-L1669S | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | CMYA5-I1713N | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.819 (possibly damaging) |
| 0.5 | CMYA5-I1721V | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMYA5-A1875V | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.143 (benign) |
| 0.5 | CMYA5-D1917G | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | CMYA5-S1920G | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMYA5-V2262L | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | CMYA5-T2693I | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMYA5-R2708H | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMYA5-K2906N | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMYA5-H3358Q | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VCAN-K1516R | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-R1826H | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-F2301Y | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-D2937Y | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGT-M268T | homozygous | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDHB10-T213R | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.885 (probably damaging) |
| 0.5 | PCDHB10-D446N | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | PCDHB10-A467G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.035 (benign) |
| 0.5 | SPINK5-Q267R | het unknown | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-A335V | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-S368N | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-K420E | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-G655D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-R711Q | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-T689S | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IGSF3-V920M | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | SEC22B-T81K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R107Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-C129R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R131* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SEC22B-H189R | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GPR98-L1093F | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N1985D | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-P1987L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L2004F | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-Y2232C | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2345S | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-R2733L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-S2764L | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-G3248D | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | homozygous | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-M3526T | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3867K | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERAP2-K392N | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ERAP2-N501Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FBN2-V965I | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A4-I306T | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SLC22A4-L503F | het unknown | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ADAM29-R530C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NES-P1275L | het unknown | 0.737 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NES-R1133S | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | NES-P1101L | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | NES-V815I | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.055 (benign) |
| 0.5 | HTT-Y2309H | het unknown | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-V2786I | het unknown | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CROCC-Q302E | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | CROCC-D463Y | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | CROCC-D586H | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | CROCC-R691H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.873 (probably damaging) |
| 0.5 | CROCC-R903S | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | EVC-Y258H | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T372M | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | EIF2B5-I587V | homozygous | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATR-V959M | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ATR-K764E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.741 (possibly damaging) |
| 0.5 | ATR-V316I | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | ATR-M211T | homozygous | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RAB7A-E116K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A6-A370T | homozygous | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.86 (probably damaging) |
| 0.5 | COL6A6-Y1655C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | NPHP3-P965L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.563 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CEP63-Q185H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CEP63-S651L | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.027 (benign) |
| 0.5 | WFS1-V333I | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFS1-R456H | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFS1-R611H | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FRYL-I586V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.85 (probably damaging) |
| 0.5 | IL6R-D358A | het unknown | 0.266 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.911 (probably damaging) |
| 0.5 | ALDH4A1-P16L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | BANK1-W40C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HADH-L86P | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDHA2-R286P | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | RUSC1-M470T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | IGFBP7-T188P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
| 0.5 | UGT2B7-Y268H | homozygous | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CHAT-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BTC-R146Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | QSOX2-R524W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.866 (probably damaging) |
| 0.5 | QSOX2-K126E | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TJP1-R1083C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | PER1-A962P | homozygous | 0.709 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.212 (possibly damaging) |
| 0.5 | PER1-P859S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | MYH13-D1614H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | MYH8-A636V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FLII-F20L | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MYH1-R1272W | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | ENO3-N71S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ENO3-V85A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTNS-P380A | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TK2-P33A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TK2-K30R | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NQO1-P187S | het unknown | 0.283 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.215 (possibly damaging) |
| 0.5 | LRRC50-Q307E | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-K393R | homozygous | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-P502L | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L633S | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L659P | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-S675T | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-T1328A | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-S1088F | het unknown | 0.036 | Unknown benign | Low clinical importance, uncertain | Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic. |
| 0.5 | FANCA-G809D | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-P643A | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-A412V | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-T266A | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYBA-Y72H | het unknown | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | JUP-M697L | homozygous | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ETV4-R437C | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TSEN54-V190M | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-K347N | het unknown | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-Q389P | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-A437V | het unknown | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGB4-L1779P | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPT9-P145L | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-H199R | homozygous | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-R223H | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-V780I | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAI2-A558T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COG1-N392S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CD300LG-A231Shift | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | COL1A1-T1075A | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MPO-M519Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SCN4A-N1376D | het unknown | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRIP1-S919P | homozygous | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RBL2-R116G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | RBL2-Y210C | homozygous | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.125 (benign) |
| 0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SALL1-S143T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ELL3-W140R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | WDR76-S153A | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WDR76-M621T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | SPG11-F463S | homozygous | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | GATM-Q110H | homozygous | 0.651 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | STRC-R1521Q | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDAN1-R1065Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRPM1-D1370Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests |
| 0.5 | TRPM1-P399T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRPM1-M1T | homozygous | 0.898 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DISP2-P47A | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DISP2-C56S | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DISP2-Y375F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.882 (probably damaging) |
| 0.5 | ZFYVE19-R48Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZFYVE19-S376A | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PLA2G4D-R807Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | PLA2G4D-R783Q | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | PLA2G4D-K639Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-Y627C | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-R601H | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PLA2G4D-R573W | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-P10T | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.11 (benign) |
| 0.5 | MGA-P628Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MGA-T716S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MGA-P1523A | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DMXL2-S1288P | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DMXL2-R650Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | DMXL2-T497M | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | CDH23-N1349D | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-T1996S | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-H632Q | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNRC6A-Q1112H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SPN-V269A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.929 (probably damaging) |
| 0.5 | SH2B1-T484A | het unknown | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TPSG1-F288L | het unknown | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPSG1-T239I | homozygous | 0.878 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | TPSG1-T75K | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | WDR90-P250L | het unknown | 0.388 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | WDR90-V537A | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
| 0.5 | WDR90-H899Q | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | WDR90-P1001T | het unknown | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.5 | WDR90-R1492H | het unknown | 0.890 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | WDR90-R1600W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | BBS4-I354T | homozygous | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TBC1D21-R83Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | ADAMTSL3-L290V | het unknown | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-V661L | het unknown | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | VPS33B-G514S | het unknown | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | VPS33B-R389Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | BLM-P868L | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.595 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BLM-V1321I | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSG2-V392I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.024 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNE1-S38G | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CBR3-C4Y | homozygous | 0.391 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.5 | COL6A2-S399N | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GNB1L-C70R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | GNB1L-R37H | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FTCD-A438V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NRIP1-R448G | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TPTE-K386E | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPTE-R229* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | TPTE-R195Q | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | C20orf54-P267L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C20orf54-I74M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | NINL-R1276C | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | NINL-WE958Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SNX21-A154T | homozygous | 0.331 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | SNX21-H179P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | BIRC7-R60W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SALL4-L507R | het unknown | 0.328 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_027052-R29H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027052-T53Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_027052-Y63N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027052-Q90* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | het unknown | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSE-G424S | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KAL1-V534I | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R1745H | homozygous | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XIAP-Q423P | homozygous | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASMTL-H528R | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ASMTL-V458M | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.098 (benign) |
| 0.5 | ASMTL-G434S | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ASMTL-Y364H | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.5 | ASMTL-S228P | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | ARSA-T391S | homozygous | 0.423 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC5A4-A46T | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SLC5A4-T4M | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
| 0.5 | CDC42EP1-R97Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TRIOBP-S217N | homozygous | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-S540Del | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRIOBP-N863K | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-P1030R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-F1187L | homozygous | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.5 | TAB1-T446I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
| 0.5 | MICALL1-R285W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MICALL1-A519S | homozygous | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICALL1-H685R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZIM3-K438* | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ZIM3-I379V | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.651 (possibly damaging) |
| 0.5 | ZIM3-N157D | homozygous | 0.757 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZIM3-L69M | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.05 (benign) |
| 0.5 | MAN2B1-N413S | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-R337Q | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-T312I | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-L278V | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GADD45GIP1-K127R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.865 (probably damaging) |
| 0.5 | NOTCH3-A2223V | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH3-H1133Q | het unknown | 0.008 | Unknown benign | Low clinical importance, uncertain | Probably benign. |
| 0.5 | ZNF781-T97M | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | LSR-R519RR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | LSR-E645Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.877 (probably damaging) |
| 0.5 | TSPAN16-S233Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TYK2-G363S | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TYK2-V362F | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PRTN3-R249H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | ELANE-A224T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.05 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ELANE-S225P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR108-T241M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | GPR108-Q36R | homozygous | 0.870 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF177-D94G | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | ZNF177-T112M | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-T134S | het unknown | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RYR1-E3583Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.583 (possibly damaging), Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DLL3-L142Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DLL3-L218P | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KLK13-H109Y | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | ZNF813-S146L | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.07 (benign) |
| 0.5 | ZNF813-K446Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NLRP12-F402L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests |
| 0.5 | NLRP8-P25L | het unknown | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.793 (possibly damaging) |
| 0.5 | NLRP8-V116L | het unknown | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NLRP8-V782A | het unknown | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NLRP8-N877K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.929 (probably damaging) |
| 0.5 | NLRP8-K937R | het unknown | 0.521 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | NLRP8-*1049Y | het unknown | 0.664 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NLRP2-T221M | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MED25-Q671P | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.508 (possibly damaging), Testable gene in GeneTests |
| 0.5 | DHDH-D38A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.938 (probably damaging) |
| 0.5 | ZNF546-P664H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FCGBP-P4788S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FCGBP-G4506R | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.051 (benign) |
| 0.5 | FCGBP-H3668R | homozygous | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FCGBP-S1961P | homozygous | 0.875 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FCGBP-P1436L | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.325 (possibly damaging) |
| 0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CEACAM1-G436V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ZC3H4-P1109L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) | |
| 0.5 | ZNF224-M118V | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-T177M | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | GLIS2-V126I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PABPC3-K231E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.712 (possibly damaging) |
| 0.5 | PABPC3-K312Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PABPC3-E345* | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PABPC3-R469Q | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | PABPC3-R475C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GNB3-G272S | het unknown | 0.027 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.184 (benign) |
| 0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NM_001080841-V80A | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001080841-R85C | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001080841-R102* | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | VWF-T1381A | het unknown | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DCP1B-N195D | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.859 (probably damaging) |
| 0.5 | ZNF202-K259E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.948 (probably damaging) |
| 0.5 | ZNF202-V154A | het unknown | 0.669 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L878R | homozygous | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-V361L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WNK1-T665I | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-M1808I | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-I723V | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLL2-P2557L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SDS-K21T | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SACS-N232K | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CENPJ-S879A | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CENPJ-P85T | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SH2B3-W262R | het unknown | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HSP90B1-P321L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | KRT6B-Y497C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT1-K633R | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT1-G581L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT1-R38H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | BBS10-P539L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GNPTAB-Y477D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.813 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GNPTAB-I167N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-S707P | het unknown | 0.006 | Unknown benign | Low clinical importance, uncertain | Probably not pathogenic, several papers conclude it is not associated with breast cancer. |
| 0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1377-G238C | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1377-H308L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | KIAA1377-S1077N | homozygous | 0.987 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BAG3-C151R | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BAG3-P407L | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TACC2-E1916K | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | TACC2-V2197A | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TACC2-A2210V | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TACC2-L2261H | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | TACC2-A2754T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | TRIM22-D155N | homozygous | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | TRIM22-R242T | homozygous | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TRIM22-R321K | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | HABP2-T50M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ZDHHC6-D41N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | ANXA11-R230C | het unknown | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NOC3L-P444R | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.061 (benign) |
| 0.5 | NOC3L-E45G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | FAM178A-R388C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FAM178A-S541Y | het unknown | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.442 (possibly damaging) |
| 0.5 | COL17A1-M703V | het unknown | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF215-F301L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | ZNF215-V323L | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SCUBE2-H712Q | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SCUBE2-T285M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | STX5-R333W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | STX5-R121C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NUDT22-T129R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | NUDT22-Q260R | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NUDT22-L263P | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EXT2-S237L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC8-V1572I | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC8-A1369S | het unknown | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | het unknown | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-K457N | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-D463N | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NELL1-R82Q | homozygous | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NELL1-G796R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | QSER1-V385I | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | QSER1-N501T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | QSER1-N1018S | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-S112A | homozygous | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
| 0.5 | TNFSF11-P36R | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.976 (probably damaging), Testable gene in GeneTests |
| 0.5 | MRPS31-T241M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.874 (probably damaging) |
| 0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-D248N | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-R184C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE2-M1969T | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | het unknown | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | het unknown | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-N3130S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | het unknown | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | het unknown | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-N3982H | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-P4912A | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | B3GALTL-E370K | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-H49Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_028064-H41Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ESR2-R221G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | MLH3-P844L | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-N826D | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-E624Q | het unknown | 0.016 | Unknown benign | Low clinical importance, uncertain | Probably benign, follow-up studies have failed to support any link with colorectal cancer and the protein function is identical to wildtype. |
| 0.5 | GPC6-R555K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 0.5 | SERPINA12-L203P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
| 0.5 | MYH6-A1130T | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-V1101A | homozygous | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-G56R | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KTN1-E620A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | RAD51L1-K243R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | AHNAK2-E2503A | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.5 | AHNAK2-L2146V | homozygous | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.5 | AHNAK2-E1856D | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-G1404E | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | AHNAK2-M1298I | homozygous | 0.830 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 0.5 | MDP1-G153W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | HEATR4-R191C | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.375 | CPN2-V536M | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests |
| 0.375 | CPN2-Q509R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | CPN2-A305T | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | FMO3-E158K | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-V257M | het unknown | 0.092 | Unknown benign | Low clinical importance, uncertain | This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism. |
| 0.25 | FMO3-E308G | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | USH1C-E819D | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIB3-Q84R | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | FMO2-D36G | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMO2-S195L | het unknown | 0.465 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | GPT-H14N | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | APC-V1822D | het unknown | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TG-S734A | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-M1028V | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | TG-D1312G | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-W2501R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.25 | TG-R2530Q | het unknown | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | RNF39-A304E | het unknown | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RNF39-A245T | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RNF39-S203P | het unknown | 0.223 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SIX5-V693M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SIX5-P635S | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LAMB3-M852L | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MICA-R29P | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-L145V | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-G198S | homozygous | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-T204R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MICA-I236T | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-R274Q | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | RYR2-Q2958R | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CYP2B6-Q172H | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign) |
| 0.25 | DMPK-L423V | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALX4-R35T | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TSEN15-G19D | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.25 | TSEN15-Q59H | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.961 (probably damaging) |
| 0.25 | FPR1-E346A | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-N192K | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-I11T | het unknown | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | DNAI1-V335I | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SNX31-D428G | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX31-M380Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SNX31-Q309R | homozygous | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.25 | SNX31-D73H | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.312 (possibly damaging) |
| 0.25 | CFHR1-L159V | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-E175Q | het unknown | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PHF2-A989Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PHF2-ST997TP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MKKS-G532V | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MKKS-R517C | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SHANK3-I245T | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CUBN-S2717W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CUBN-S1935G | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CUBN-P1559S | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CUBN-S1401A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | CUBN-P389T | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CUBN-F253S | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SERPINA1-E400D | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (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 | SPATA7-D2N | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-V74M | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PINK1-N521T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDA-K27Q | het unknown | 0.190 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | ERCC6-Q1413R | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-R1230P | het unknown | 0.031 | Unknown benign | Low clinical importance, uncertain | Probably benign. |
| 0.25 | ERCC6-R1213G | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-M1097V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-G399D | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BMPR1A-P2T | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PDE6C-S270T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PTF1A-S263P | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | XRCC3-T241M | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.188 (benign) |
| 0.25 | TSC1-M322T | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPT2-V368I | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-P1158L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-C1072S | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-I816L | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-G765E | het unknown | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATXN1-P753S | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMP9-Q279R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MMP9-R574P | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SBF2-Q1216E | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ROR2-V819I | het unknown | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DBT-S384G | het unknown | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SMPD1-G508R | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-G355R | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-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 | KNDC1-E436G | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KNDC1-V806D | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.25 | KNDC1-S1018Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | COL6A1-R850H | het unknown | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A1-S890L | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC19A1-H27R | het unknown | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.25 | 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 | COL18A1-T379M | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 0.25 | SFTPC-T138N | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SFTPC-S186N | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TXNDC3-R43K | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TXNDC3-C208R | het unknown | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TXNDC3-I493T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLG-D472N | het unknown | 0.151 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | UGT2B15-A398V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | UGT2B15-Y85D | het unknown | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MST1R-R1335G | homozygous | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | MST1R-S1195G | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MST1R-Q523R | homozygous | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | MST1R-L398Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ATXN7-V862M | het unknown | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCDC66-D5Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CCDC66-LQ328P* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation | |
| 0.25 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CCDC66-E592Q | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.082 (benign) |
| 0.25 | CCDC66-S606SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CCDC66-S606SP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ERBB2-I655V | het unknown | 0.121 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.18 (benign) |
| 0.25 | MLH1-I219V | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BBS9-A455T | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNA2-T125A | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BC033456-K101E | homozygous | 0.969 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BC033456-Q54Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MUT-I671V | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-R532H | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-A94T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-C63Y | het unknown | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | XPC-Q939K | het unknown | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GPR56-S281R | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GUCY2D-L782H | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLDN16-R55Shift | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.25 | OPA1-S158N | het unknown | 0.482 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CRIPAK-C27Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CRIPAK-A44T | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CRIPAK-H95R | het unknown | 0.763 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | CRIPAK-M286T | het unknown | 0.571 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | CRIPAK-S288G | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DOK7-H113P | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOK7-T137I | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C16orf85-E145D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C16orf85-R98Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C16orf85-P25R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | COL9A1-Q621R | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LMBRD1-D469E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HGD-Q80H | het unknown | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DRD3-G9S | het unknown | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MPDU1-A229T | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NLRP1-M1184V | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NLRP1-V1059M | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | NLRP1-L155H | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign) |
| 0.25 | DDX51-K637* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | DDX51-Q295R | homozygous | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.674 (possibly damaging) |
| 0.25 | EYA4-G277S | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6C-R182Q | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOK7-R38G | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOK7-R38G | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCI-A86V | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCI-C742S | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SULT1C4-D5E | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | GNA15-L81Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GNA15-L81Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GNA15-Y147C | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SCN1A-A1056T | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C2orf83-W141* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C2orf83-E104Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C2orf83-S45L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SLC28A1-V189I | het unknown | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SLC28A1-Q237K | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A1-D521N | het unknown | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TIRAP-G173Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TIRAP-C174S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GHR-I544L | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | MYO7A-S1666C | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-L1954I | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ANKRD27-S657G | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.11 (benign) |
| 0.25 | ANKRD27-S647Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ALG9-V289I | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1-K192E | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1-A547S | het unknown | 0.164 | Complex/Other benign | Low clinical importance, uncertain | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. |
| 0.25 | RPGRIP1-E1033Q | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DPAGT1-I393V | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TAP2-*703Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TAP2-T665A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRP2-I4210L | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | LRP2-K4094E | het unknown | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | COL1A2-P549A | het unknown | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-V1140A | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-R952K | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-K832R | het unknown | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-V456L | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-S406A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CELA1-Q243R | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-R44W | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-Q10H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 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 | GLI3-T183A | het unknown | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SUCLA2-S199T | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LITAF-I92V | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PON2-S311C | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PON2-A148G | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | FRZB-R324G | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | CFTR-V470M | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | POLA2-G583R | het unknown | 0.118 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.024 (benign) |
| 0.25 | COL11A2-E276K | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | C17orf55-V50L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C17orf55-A49Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TULP1-K261N | het unknown | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0 | H6PD-R453Q | het unknown | 0.407 | Recessive pathogenic | Low clinical importance, uncertain | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). |
| 0 | TGM1-A700P | het unknown | 0.008 | Recessive pathogenic | Moderate clinical importance, uncertain | Unreported, predicted to be damaging. Other recessive missense mutations in this gene are reported to cause ichthyosis. |
| 0 | PAH-V245A | het unknown | 0.008 | Recessive pathogenic | Low clinical importance, uncertain | This variant was found in combination with some other PAH variants in a few Danish cases of hyperphenylalaninemia. The mildly elevated phenylalanine levels of these cases are generally considered benign, dietary intervention is not usually recommended. |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,779,274,293 bases (97.2% of callable positions, 90.2% of total positions)
Coding region coverage: 31,971,823 bases (96.1% of all genes, 97.2% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY