Variant report for hu04FD18
- Data source: CGI sample GS00253-DNA_F01_200_37
- This report: evidence.pgp-hms.org/genomes?b516ab4dda0759b6415202fd2e95d3c46ffdd2ed
- Person ID: hu04FD18
- public profile: my.pgp-hms.org/profile/hu04FD18
- Download: source data, dbSNP and nsSNP report (136 MB)
- Processing status: processing
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | MYL2-A13T | High | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.000185908 | This rare variant is reported to cause late-onset familial hypertrophic cardiomyopathy. The variant has been found in five affected Caucasian individuals (in four families), but affected non-carriers and unaffected carriers have also been observed. No statistically significant enrichment of this variant in cases vs. controls has been shown. This variant is reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/14064/) with conflicting interpretations: two sources classify it as pathogenic, three as "uncertain significance", and one as "likely benign". | 1 |
| 2 | PEX26-Y109H | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.00288158 | Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause severe disorders involving peroxisome dysfunction (neonatal adrenoleukodystrophy, infantile refsum disease, and Zellweger syndrome). | 1 |
| 3 | STXBP2-R190C | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.000297265 | Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause familial hemophagocytic lymphohistiocytosis (a severe disorder that manifests in childhood). | 1 |
| 4 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.152073 | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. | 1 |
| 5 | LDLR-V827I | Moderate | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.000371816 | LabCorps has reported this as a "likely pathogenic" in ClinVar: http://www.ncbi.nlm.nih.gov/clinvar/RCV000030135/ Other missense variants in this gene are reported to cause familial hypercholesterolemia in a dominant manner. However, according to ExAC allele frequency data this variant is carried by 1 in 400 with European descent -- roughly equal to the prevalence of the disease. This seems to contradict the reported effect: if this variant *were* a significant cause of the disease, we would expect it to account for a large fraction of cases and be well-established in literature -- but this does not appear to be the case. | 1 |
| 6 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Homozygous | 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 |
| 7 | MBL2-R52C | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.048615 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C). | 1 |
| 8 | RPGRIP1L-A229T | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0561443 | This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare. | 1 |
| 9 | APOA5-S19W | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0646151 | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. | 1 |
| 10 | rs5186 | Low | Likely | Likely pathogenic Unknown, Homozygous | 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 |
| 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 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 13 | 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 |
| 14 | 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 |
| 15 | 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 |
| 16 | CCR5-S185Shift | Low | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 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 |
| 17 | MTR-D919G | Low | Uncertain | Uncertain protective Complex/Other, Heterozygous | 0.217234 | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. | 1 |
| 18 | GABRD-R220H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0161891 | Probably benign, one report hypothesized this variant was associated with epilepsy, but a follow-up investigation failed to establish any statistically significant difference for this variant's incidence in control vs. affected populations. | 1 |
| 19 | PKHD1-V3960I | Low | Likely | Likely benign Unknown, Heterozygous | 0.0128277 | Probably benign, reported as a nonpathogenic polymorphism found in controls. | 1 |
| 20 | PKHD1-I3905N | Low | Likely | Likely benign Unknown, Heterozygous | 0.048615 | Presumed benign, allele frequency contradicts severe pathogenic effect. | 1 |
| 21 | FANCI-P55L | Low | Likely | Likely benign Unknown, Heterozygous | 0.0507529 | Probably benign. | 1 |
| 22 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 23 | 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 |
| 24 | 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 |
| 25 | NOTCH3-P496L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.015625 | Presumed benign, seen in two healthy PGP participants. | 1 |
| 26 | PCCA-I475V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0377394 | Reported as a polymorphism, tentatively presumed benign. | 1 |
| 27 | SEPT9-R355W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.000576147 | Rare, tentatively classified as benign. Other missense variants in this gene are reported to cause familial neuralgic amyotrophy in a dominant manner, but this was seen in a PGP participant who has not reported a family history of the disease. | 1 |
| 28 | VCAN-T689A | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00644137 | Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect. | 1 |
| 29 | ABCB11-R698H | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00542169 | Rare, classified as nonpathogenic in most reports (although Polyphen 2 predicts damaging effect). Other recessive variants in this gene cause intrahepatic cholestasis in a recessive manner. | 1 |
| 30 | RNASEH2B-I309Shift | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0234375 | This variant is predicted to be highly disruptive. Although other disruptive variants in this gene are reported to cause Aicardi-Goutieres syndrome in a recessive manner (a rare, fatal childhood disease), those variants were upstream of this position, and this variant is too common to be consistent with causing that disease (2% allele frequency). Based on this, it is tentatively evaluated as benign. | 1 |
| 31 | 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 |
| 32 | DSP-E1833V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00929541 | Reported to be benign with 1.5% allele frequency, although predicted to have damaging effect by Polyphen 2. | 1 |
| 33 | OTOF-R773C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0161654 | Presumed benign. Seen in 2.4% of randomly chosen chromosomes, contradicting a severe pathogenic hypothesis. | 1 |
| 34 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 35 | HR-T1022A | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.0969511 | Probably benign. One study implicated it in causing alopecia universalis, but a later report noted the variant has an allele frequency inconsistent with the rarity of that disease. | 1 |
| 36 | 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 |
| 37 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 38 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 39 | MAPT-R370W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155549 | Probably benign. | 1 |
| 40 | KRT85-R78H | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.042466 | Presumed benign. Although this variant was implicated in causing ectodermal dysplasia in a recessive manner in two Pakistani families (one of which was large and consanguineous), GET-Evidence reports that the variant has been seen in 5 out of 114 random control chromosomes. This strongly contradicts a severe pathogenic effect. | 1 |
| 41 | SPTA1-A970D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0373134 | This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral. | 1 |
| 42 | PHYH-P29S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155326 | Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis. | 1 |
| 43 | TYR-S192Y | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.270682 | This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3). | 1 |
| 44 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
| 45 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
| 46 | FLG-R3530S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.108849 | Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause ichthyosis vulgaris in a recessive manner. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 31469988 / 33282720 = 94.55%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.76392961876833 | 1449 | 6138 | 955553-955753, 976047, 976056, 976080, 976090-976091, 976107-976112, 976125-976129, 976188-976260, 976553-976777, 976871-976888, 976891-976899, 976907-976920, 976936-976958, 977006, 977009, 977396, 977411, 977429, 978687-978714, 978742-978747, 978750, 978758-978761, 978766-978777, 979377-979387, 979396, 981635, 981799-981842, 981857-981867, 981886-981897, 981903-981931, 981935-981936, 981944-981953, 981960-981967, 981971-981979, 981986-981995, 982001-982008, 982017-982025, 982081-982085, 982200-982230, 982243-982285, 982324, 983219, 983409-983439, 983450, 983454-983456, 983469, 983495-983745, 984278-984282, 984347, 984415-984439, 984626-984692, 984946-984958, 985018, 985112-985114, 985160-985169, 985174, 985330-985342, 985359-985406, 985620-985626, 985630, 985633, 985636-985643, 985673, 985682, 985686, 985693-985696, 986180-986185, 986191-986200, 986714-986717, 986833-986835, 986843-986849, 986852, 986860-986868, 986883-986884, 986889, 986914, 986951-986955, 986964, 986968-986971, 987010-987011, 987146, 990241, 990245-990251, 990260, 990280-990282, 990302 |
| 2 | GABRD | 1 | 0.92200147167035 | 106 | 1359 | 1950863-1950930, 1957037-1957038, 1959657-1959679, 1959693-1959694, 1960553-1960555, 1960558, 1961507-1961509, 1961591-1961594 |
| 3 | PEX10 | 1 | 0.84199796126402 | 155 | 981 | 2337270-2337273, 2337923-2337938, 2337941-2337946, 2338255, 2338280, 2339992-2339994, 2340000-2340001, 2340004-2340012, 2340124, 2340186-2340194, 2340200-2340201, 2340214-2340215, 2343843-2343941 |
| 4 | NPHP4 | 1 | 0.9778089231488 | 95 | 4281 | 5923972, 5923975-5923978, 5923981, 5925258, 5925261-5925264, 5927107, 5927123-5927125, 5935113, 5935123-5935131, 5935139-5935140, 5935147, 5935151-5935158, 5937250, 5937255-5937269, 5937275-5937276, 5964732-5964772 |
| 5 | ESPN | 1 | 0.53060428849903 | 1204 | 2565 | 6485016-6485226, 6485234-6485267, 6485276-6485294, 6488319-6488341, 6488378-6488384, 6488479, 6500346-6500358, 6500363-6500370, 6500385, 6500393-6500404, 6500411-6500416, 6500425-6500458, 6500463-6500468, 6500480-6500500, 6500686-6500868, 6501020, 6501023-6501024, 6501027, 6501030-6501034, 6501044-6501046, 6501075-6501103, 6505735, 6505776-6505820, 6505841-6505879, 6505888-6505937, 6508701-6508733, 6508741-6508781, 6508794-6508796, 6508804-6508806, 6508812, 6508818-6508832, 6508844-6509056, 6509064-6509128, 6511797-6511808, 6511907-6511933, 6512106-6512133, 6520078-6520080, 6520087, 6520128, 6520150-6520151, 6520154 |
| 6 | PLEKHG5 | 1 | 0.8469739730323 | 488 | 3189 | 6528064, 6528172, 6529710-6529718, 6530339-6530340, 6530343-6530347, 6530625-6530664, 6530809, 6530823-6530865, 6530872-6530886, 6531110-6531120, 6531133-6531134, 6531561-6531566, 6531590-6531601, 6532636-6532637, 6532640-6532647, 6532653, 6533411-6533418, 6534073-6534224, 6534511-6534647, 6537658-6537685, 6557380-6557383 |
| 7 | KIF1B | 1 | 0.99322416713721 | 36 | 5313 | 10355737, 10355762, 10357005, 10357021, 10357024, 10357042-10357043, 10381806, 10381823, 10407846-10407847, 10421770, 10425559-10425561, 10425571-10425587, 10425590-10425591, 10425595-10425596 |
| 8 | PEX14 | 1 | 0.92151675485009 | 89 | 1134 | 10535053-10535057, 10659331-10659357, 10659367, 10684434-10684454, 10684461-10684494, 10689689 |
| 9 | TARDBP | 1 | 0.99036144578313 | 12 | 1245 | 11082499-11082506, 11082528-11082531 |
| 10 | MTHFR | 1 | 0.99949264332826 | 1 | 1971 | 11861408 |
| 11 | PLOD1 | 1 | 0.97664835164835 | 51 | 2184 | 11994837-11994885, 11994897, 11994909 |
| 12 | CTRC | 1 | 0.99876084262701 | 1 | 807 | 15771142 |
| 13 | CLCNKA | 1 | 0.93410852713178 | 136 | 2064 | 16349154-16349155, 16349158, 16349162-16349163, 16349182-16349183, 16349186, 16351272-16351278, 16353031-16353058, 16353078-16353092, 16353095-16353103, 16353192-16353194, 16353216-16353246, 16353254-16353270, 16353930, 16356957-16356958, 16357005-16357007, 16358726-16358729, 16358732, 16358738-16358743, 16358939 |
| 14 | CLCNKB | 1 | 0.98837209302326 | 24 | 2064 | 16373044-16373050, 16378741, 16378851-16378857, 16383002, 16383398-16383405 |
| 15 | ATP13A2 | 1 | 0.97262207169066 | 97 | 3543 | 17312732-17312735, 17313312-17313327, 17313580-17313622, 17313634-17313645, 17313654, 17322592, 17322607, 17322610, 17322617, 17323655, 17326553, 17326559-17326571, 17332049, 17332254 |
| 16 | SDHB | 1 | 0.9988137603796 | 1 | 843 | 17380485 |
| 17 | ALDH4A1 | 1 | 0.98640661938534 | 23 | 1692 | 19202926, 19203941-19203951, 19203974, 19204018-19204024, 19228970, 19228973, 19229017 |
| 18 | PINK1 | 1 | 0.77147766323024 | 399 | 1746 | 20960042-20960428, 20964418-20964429 |
| 19 | ALPL | 1 | 0.98349206349206 | 26 | 1575 | 21903890-21903891, 21903894, 21903899-21903914, 21904080-21904086 |
| 20 | HSPG2 | 1 | 0.98140558591378 | 245 | 13176 | 22149813-22149819, 22149829-22149885, 22149935, 22150142, 22157546-22157547, 22165421-22165426, 22165435, 22175171-22175176, 22175189, 22178073-22178080, 22179438-22179440, 22181127, 22181402-22181414, 22181851, 22181855, 22182052-22182055, 22183834, 22186480, 22191441-22191446, 22191450, 22191453-22191454, 22191554-22191556, 22199131, 22199135, 22199137-22199148, 22199155-22199158, 22199490-22199494, 22199503-22199528, 22202482-22202485, 22211163, 22213787, 22263648-22263710 |
| 21 | WNT4 | 1 | 0.91193181818182 | 93 | 1056 | 22446545, 22446733-22446744, 22446872, 22446883, 22446937, 22469339-22469415 |
| 22 | GALE | 1 | 0.97516714422159 | 26 | 1047 | 24122660-24122683, 24125461, 24125464 |
| 23 | HMGCL | 1 | 0.99897750511247 | 1 | 978 | 24134721 |
| 24 | FUCA1 | 1 | 0.90935046395432 | 127 | 1401 | 24194392, 24194441-24194453, 24194489-24194535, 24194545-24194566, 24194615-24194644, 24194685-24194688, 24194691, 24194694-24194696, 24194699-24194704 |
| 25 | LDLRAP1 | 1 | 0.89967637540453 | 93 | 927 | 25870190-25870277, 25880524-25880527, 25893476 |
| 26 | SEPN1 | 1 | 0.88968824940048 | 184 | 1668 | 26126722-26126904, 26139278 |
| 27 | YARS | 1 | 0.99873976055451 | 2 | 1587 | 33246711, 33246714 |
| 28 | HPCA | 1 | 0.83505154639175 | 96 | 582 | 33359165-33359204, 33359398, 33359409-33359463 |
| 29 | GJB4 | 1 | 0.99500624219725 | 4 | 801 | 35227353-35227354, 35227521, 35227530 |
| 30 | ZMPSTE24 | 1 | 0.99579831932773 | 6 | 1428 | 40751603-40751608 |
| 31 | COL9A2 | 1 | 0.96618357487923 | 70 | 2070 | 40768389-40768400, 40768407-40768411, 40769251, 40769490-40769491, 40777344, 40777352, 40777358, 40781280, 40781282-40781290, 40781293-40781305, 40781311-40781312, 40782806, 40782835-40782836, 40782851-40782869 |
| 32 | KCNQ4 | 1 | 0.82040229885057 | 375 | 2088 | 41249766-41249997, 41250028-41250034, 41250041-41250058, 41284177-41284178, 41284189-41284194, 41284209, 41284219, 41284249-41284276, 41284286-41284296, 41284307-41284309, 41284314-41284326, 41284333-41284352, 41285090, 41289816, 41296779, 41298737, 41303361-41303362, 41303365-41303367, 41303407-41303414, 41304045-41304052, 41304058, 41304063, 41304133-41304134, 41304162-41304163, 41304168-41304169 |
| 33 | CLDN19 | 1 | 0.99851851851852 | 1 | 675 | 43201667 |
| 34 | LEPRE1 | 1 | 0.89371325192221 | 235 | 2211 | 43212416-43212419, 43212424-43212425, 43212431-43212437, 43232182, 43232251-43232280, 43232287-43232288, 43232301, 43232304-43232306, 43232316-43232474, 43232482-43232485, 43232494-43232510, 43232515, 43232518, 43232589-43232590, 43232598 |
| 35 | SLC2A1 | 1 | 0.98444895199459 | 23 | 1479 | 43394623-43394624, 43394628-43394629, 43395678, 43424305-43424322 |
| 36 | MPL | 1 | 0.96960167714885 | 58 | 1908 | 43805710-43805713, 43806159, 43814527-43814535, 43814539-43814542, 43814553, 43814561, 43814666, 43814951, 43814969-43815000, 43815007-43815008, 43815011-43815012 |
| 37 | MUTYH | 1 | 0.98024219247929 | 31 | 1569 | 45797157-45797159, 45797172, 45797191-45797214, 45799192, 45799195-45799196 |
| 38 | MMACHC | 1 | 0.98704358068316 | 11 | 849 | 45966026, 45973989, 45974506-45974507, 45974828-45974833, 45974838 |
| 39 | POMGNT1 | 1 | 0.99899142713061 | 2 | 1983 | 46660260, 46660263 |
| 40 | STIL | 1 | 0.99663822084303 | 13 | 3867 | 47735425-47735426, 47735429, 47759163, 47759173-47759180, 47759184 |
| 41 | ORC1 | 1 | 0.99651972157773 | 9 | 2586 | 52851529, 52851539-52851540, 52851547-52851552 |
| 42 | CPT2 | 1 | 0.9742033383915 | 51 | 1977 | 53662616-53662643, 53662697-53662705, 53676718-53676729, 53679071, 53679074 |
| 43 | DHCR24 | 1 | 0.85041908446164 | 232 | 1551 | 55340835, 55352562-55352792 |
| 44 | PCSK9 | 1 | 0.93265993265993 | 140 | 2079 | 55505526-55505532, 55505539, 55505541-55505548, 55505554-55505590, 55505593, 55505708, 55509541, 55509590-55509592, 55509595, 55521713-55521718, 55521724, 55521759-55521762, 55521765-55521792, 55521795-55521801, 55524207-55524212, 55524221-55524229, 55524240-55524249, 55524257-55524261, 55529178, 55529181, 55529187, 55529192 |
| 45 | ALG6 | 1 | 0.99346405228758 | 10 | 1530 | 63894656, 63894666, 63894675-63894681, 63894723 |
| 46 | LEPR | 1 | 0.99857061177816 | 5 | 3498 | 66036336-66036340 |
| 47 | CTH | 1 | 0.9991789819376 | 1 | 1218 | 70877229 |
| 48 | GLMN | 1 | 0.99831932773109 | 3 | 1785 | 92731985-92731986, 92755784 |
| 49 | RPL5 | 1 | 0.99552572706935 | 4 | 894 | 93300433-93300434, 93307376, 93307379 |
| 50 | ABCA4 | 1 | 0.99472295514512 | 36 | 6822 | 94461674-94461683, 94461694-94461699, 94467419-94467427, 94467438-94467440, 94473845, 94497411, 94544156-94544160, 94577096 |
| 51 | DPYD | 1 | 0.9990253411306 | 3 | 3078 | 97848017, 97915705, 97915718 |
| 52 | AGL | 1 | 0.99369428136551 | 29 | 4599 | 100330089-100330092, 100347182, 100376270-100376277, 100378024-100378039 |
| 53 | COL11A1 | 1 | 0.95180502107385 | 263 | 5457 | 103363682-103363725, 103364222-103364322, 103364497-103364505, 103364516, 103364533, 103364538, 103381233, 103405902-103405904, 103412422, 103412432-103412439, 103427458, 103431074-103431078, 103435793-103435808, 103435818-103435828, 103440428, 103449709-103449719, 103453189, 103453203, 103453210-103453212, 103470164, 103470179, 103471642, 103471818-103471845, 103471855, 103471860-103471866, 103484374, 103496725-103496727 |
| 54 | GSTM1 | 1 | 0.15677321156773 | 554 | 657 | 110230496-110230531, 110230792-110230867, 110231295-110231359, 110231670-110231673, 110231687-110231751, 110231847-110231947, 110232893-110232942, 110232952-110232988, 110233076-110233186, 110235898-110235901, 110235907, 110235910-110235912, 110235917 |
| 55 | NRAS | 1 | 0.99649122807018 | 2 | 570 | 115256505-115256506 |
| 56 | NGF | 1 | 0.96005509641873 | 29 | 726 | 115828707-115828713, 115828800-115828803, 115829005-115829022 |
| 57 | VANGL1 | 1 | 0.99809523809524 | 3 | 1575 | 116226668, 116226677-116226678 |
| 58 | HMGCS2 | 1 | 0.99541584806811 | 7 | 1527 | 120299913-120299919 |
| 59 | NOTCH2 | 1 | 0.96736785329018 | 242 | 7416 | 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539955, 120547962-120547968, 120548022-120548058, 120572544-120572575, 120572609-120572610, 120611961-120612017 |
| 60 | HFE2 | 1 | 0.99219359875098 | 10 | 1281 | 145415571, 145415577-145415583, 145415598, 145415692 |
| 61 | PRPF3 | 1 | 0.9990253411306 | 2 | 2052 | 150315907, 150315914 |
| 62 | FLG | 1 | 0.93205317577548 | 828 | 12186 | 152276100-152276115, 152276279-152276299, 152276383-152276389, 152276456-152276493, 152276523-152276563, 152276580-152276644, 152276671, 152276696-152276729, 152276801, 152276868-152276910, 152277011-152277058, 152277082-152277093, 152277162-152277171, 152277226-152277259, 152277345, 152277392-152277441, 152277453-152277473, 152277713-152277721, 152277881-152277887, 152278043-152278052, 152278431-152278437, 152278552-152278558, 152278689, 152278853-152278859, 152279016-152279022, 152279382-152279409, 152279524-152279530, 152279729, 152279744, 152279760, 152280029-152280036, 152280170, 152280180-152280182, 152280185-152280186, 152280347, 152280372, 152280444-152280474, 152280556-152280576, 152280594-152280617, 152280643-152280649, 152280733-152280762, 152280782, 152280788, 152280864, 152280900, 152281039, 152281479, 152281687-152281734, 152281945-152281951, 152283261-152283262, 152283407-152283433, 152283962, 152283966, 152283975, 152284149-152284175, 152284199-152284211, 152284374-152284380, 152284546-152284552, 152285137, 152285806-152285812, 152285998-152286005 |
| 63 | CHRNB2 | 1 | 0.97084161696488 | 44 | 1509 | 154540522-154540523, 154540532-154540534, 154540542-154540550, 154540552-154540560, 154540567, 154543835-154543836, 154544300-154544301, 154544384-154544385, 154544392-154544394, 154544399-154544402, 154544408-154544413, 154544419 |
| 64 | GBA | 1 | 0.99627560521415 | 6 | 1611 | 155206154-155206159 |
| 65 | PKLR | 1 | 0.98666666666667 | 23 | 1725 | 155264338-155264342, 155264420, 155264424, 155264434, 155269977-155269984, 155269996, 155269999-155270003, 155270007 |
| 66 | LMNA | 1 | 0.95943562610229 | 23 | 567 | 156105053, 156105740-156105743, 156105764-156105769, 156106134-156106145 |
| 67 | LMNA | 1 | 0.96541353383459 | 69 | 1995 | 156084729-156084770, 156085003, 156105053, 156105740-156105743, 156105764-156105769, 156106134-156106145, 156108331, 156108349, 156108355 |
| 68 | SEMA4A | 1 | 0.98731408573928 | 29 | 2286 | 156124399-156124401, 156124409-156124410, 156124426-156124440, 156131137, 156131146, 156131149-156131151, 156131214-156131215, 156146535-156146536 |
| 69 | NTRK1 | 1 | 0.92722710163112 | 174 | 2391 | 156830727-156830874, 156837936, 156837946, 156843449-156843458, 156843588, 156843592, 156843684-156843692, 156848988, 156851330-156851331 |
| 70 | PPOX | 1 | 0.99930264993026 | 1 | 1434 | 161136715 |
| 71 | NDUFS2 | 1 | 0.9992816091954 | 1 | 1392 | 161172233 |
| 72 | MPZ | 1 | 0.92020592020592 | 62 | 777 | 161275726-161275745, 161275754-161275767, 161275898-161275925 |
| 73 | DDR2 | 1 | 0.99883177570093 | 3 | 2568 | 162688893, 162749959-162749960 |
| 74 | TBX19 | 1 | 0.98960653303638 | 14 | 1347 | 168262435-168262441, 168274313-168274316, 168274323-168274325 |
| 75 | SLC19A2 | 1 | 0.95917001338688 | 61 | 1494 | 169454825-169454850, 169454859-169454893 |
| 76 | F5 | 1 | 0.99550561797753 | 30 | 6675 | 169499047-169499050, 169510325-169510343, 169515805-169515811 |
| 77 | MYOC | 1 | 0.9960396039604 | 6 | 1515 | 171621478, 171621697-171621700, 171621703 |
| 78 | FASLG | 1 | 0.99881796690307 | 1 | 846 | 172628350 |
| 79 | SERPINC1 | 1 | 0.98781362007168 | 17 | 1395 | 173881093-173881109 |
| 80 | NPHS2 | 1 | 0.85850694444444 | 163 | 1152 | 179544818-179544824, 179544829, 179544845-179544999 |
| 81 | LHX4 | 1 | 0.99573742540494 | 5 | 1173 | 180199669, 180199690, 180199693-180199695 |
| 82 | RNASEL | 1 | 0.99685534591195 | 7 | 2226 | 182554685, 182555136-182555137, 182555894-182555897 |
| 83 | LAMC2 | 1 | 0.99972082635399 | 1 | 3582 | 183155531 |
| 84 | HMCN1 | 1 | 0.99562337355098 | 74 | 16908 | 185897745-185897752, 185897757-185897763, 185958658-185958687, 185987444, 185987447, 186037009, 186037088-186037092, 186077725-186077729, 186084059, 186114885-186114896, 186135347-186135349 |
| 85 | CFH | 1 | 0.98782467532468 | 45 | 3696 | 196658700-196658703, 196658707, 196658726-196658737, 196659193-196659217, 196695942, 196706067, 196706790 |
| 86 | CFHR1 | 1 | 0.99093655589124 | 9 | 993 | 196794735-196794741, 196797238, 196797244 |
| 87 | CFHR5 | 1 | 0.99883040935673 | 2 | 1710 | 196953134, 196953137 |
| 88 | ASPM | 1 | 0.99223691776883 | 81 | 10434 | 197057407, 197062239-197062241, 197069685-197069686, 197069694-197069709, 197069712-197069715, 197069719-197069725, 197069728, 197069916, 197070369-197070378, 197074265, 197097766-197097780, 197111823, 197115490, 197115495-197115510, 197115513, 197115567 |
| 89 | CACNA1S | 1 | 0.99875489149769 | 7 | 5622 | 201009811, 201038651, 201047075, 201081365-201081366, 201081377, 201081387 |
| 90 | PKP1 | 1 | 0.99724896836314 | 6 | 2181 | 201286771, 201286805-201286809 |
| 91 | TNNT2 | 1 | 0.98536036036036 | 13 | 888 | 201333468-201333475, 201333481-201333484, 201333497 |
| 92 | CHIT1 | 1 | 0.99857244825125 | 2 | 1401 | 203191332-203191333 |
| 93 | LAMB3 | 1 | 0.9951690821256 | 17 | 3519 | 209797022, 209799162, 209800780-209800791, 209805941-209805943 |
| 94 | IRF6 | 1 | 0.99928774928775 | 1 | 1404 | 209974729 |
| 95 | RD3 | 1 | 0.99829931972789 | 1 | 588 | 211652653 |
| 96 | USH2A | 1 | 0.9962841950157 | 58 | 15609 | 215823956, 215823959-215823960, 215914842-215914843, 215916519-215916530, 215916559-215916562, 215916566-215916567, 215916570, 215916584-215916587, 215916597-215916602, 215916606-215916608, 215916637, 215916663, 216051183, 216061806-216061807, 216061857-216061859, 216251498, 216363579, 216496863, 216496872, 216496893, 216496897, 216595471-216595477 |
| 97 | LBR | 1 | 0.9978354978355 | 4 | 1848 | 225600159-225600161, 225607468 |
| 98 | PSEN2 | 1 | 0.97327394209354 | 36 | 1347 | 227071432, 227071475-227071502, 227071522-227071528 |
| 99 | ADCK3 | 1 | 0.99588477366255 | 8 | 1944 | 227152821, 227152826, 227169787-227169790, 227171802-227171803 |
| 100 | GJC2 | 1 | 0.19848484848485 | 1058 | 1320 | 228345460-228345488, 228345508-228345547, 228345557-228345765, 228345783-228345884, 228345899-228345960, 228345971, 228345985, 228345990, 228346002-228346183, 228346186-228346190, 228346211, 228346214, 228346217, 228346229-228346263, 228346277-228346302, 228346331-228346667, 228346684-228346688, 228346692-228346696, 228346702, 228346709-228346713, 228346725-228346728, 228346747-228346751 |
| 101 | ACTA1 | 1 | 0.88095238095238 | 135 | 1134 | 229567547, 229567562, 229567805-229567811, 229567827-229567879, 229567885-229567932, 229568017-229568021, 229568033, 229568058-229568060, 229568082, 229568086, 229568400-229568411, 229568797-229568798 |
| 102 | AGT | 1 | 0.99588477366255 | 6 | 1458 | 230845788-230845789, 230845983, 230846010-230846012 |
| 103 | LYST | 1 | 0.99228476240575 | 88 | 11406 | 235866137-235866143, 235875433, 235897870-235897873, 235897876, 235897930-235897959, 235907454-235907457, 235922371, 235922374-235922375, 235933528-235933547, 235969054, 235969196, 235972449, 235973059-235973071, 235973697-235973698 |
| 104 | EDARADD | 1 | 0.98611111111111 | 9 | 648 | 236645922-236645930 |
| 105 | ACTN2 | 1 | 0.94487895716946 | 148 | 2685 | 236849974-236850099, 236908038-236908040, 236917287-236917305 |
| 106 | MTR | 1 | 0.98894154818325 | 42 | 3798 | 236959021, 236959026, 236959032, 237013678-237013680, 237024542-237024554, 237057692-237057699, 237058737-237058748, 237060942-237060944 |
| 107 | RYR2 | 1 | 0.98879495437466 | 167 | 14904 | 237205822-237205869, 237729869, 237729873-237729883, 237791285-237791286, 237796897, 237801755-237801756, 237821247-237821281, 237821288-237821322, 237872307-237872309, 237881770, 237881776, 237881779-237881784, 237881787-237881805, 237942010-237942011 |
| 108 | FH | 1 | 0.99347684279191 | 10 | 1533 | 241669378, 241672049-241672051, 241672054, 241672061, 241676923, 241682952-241682954 |
| 109 | NLRP3 | 1 | 0.99646415943427 | 11 | 3111 | 247582130, 247582227, 247582248, 247588135, 247597485-247597491 |
| 110 | NET1 | 10 | 0.9463986599665 | 96 | 1791 | 5454682-5454736, 5454747-5454783, 5497022-5497025 |
| 111 | GATA3 | 10 | 0.90337078651685 | 129 | 1335 | 8097640-8097682, 8097700-8097731, 8097789-8097802, 8097825-8097851, 8100716, 8100719-8100720, 8100724-8100733 |
| 112 | OPTN | 10 | 0.96828143021915 | 55 | 1734 | 13151181-13151227, 13151242-13151248, 13174135 |
| 113 | PHYH | 10 | 0.96165191740413 | 39 | 1017 | 13341968-13341988, 13342019-13342027, 13342032, 13342035-13342042 |
| 114 | DCLRE1C | 10 | 0.999518999519 | 1 | 2079 | 14981850 |
| 115 | CUBN | 10 | 0.99448123620309 | 60 | 10872 | 16882348, 16882375, 16990544-16990549, 17032474-17032475, 17088057-17088083, 17142022, 17142032-17142042, 17142049, 17142061, 17142064, 17142090-17142096, 17151705 |
| 116 | PTF1A | 10 | 0.27760891590679 | 713 | 987 | 23481460-23481627, 23481641-23482168, 23482235-23482243, 23482759-23482764, 23482768, 23482775 |
| 117 | MYO3A | 10 | 0.99896928468357 | 5 | 4851 | 26241043, 26446284-26446286, 26491930 |
| 118 | PDSS1 | 10 | 0.91746794871795 | 103 | 1248 | 26986661-26986748, 26986756-26986768, 26994247, 26994292 |
| 119 | MASTL | 10 | 0.99924156238149 | 2 | 2637 | 27448598, 27459764 |
| 120 | RET | 10 | 0.97369207772795 | 88 | 3345 | 43572707-43572779, 43595968-43595970, 43596117-43596124, 43600572, 43600599-43600601 |
| 121 | ERCC6 | 10 | 0.9859437751004 | 63 | 4482 | 50669539-50669553, 50681012, 50732787, 50740796-50740841 |
| 122 | CHAT | 10 | 0.91099243435692 | 200 | 2247 | 50822268-50822433, 50822451-50822453, 50822457-50822463, 50822473-50822483, 50822486-50822487, 50822490, 50822498-50822500, 50822507, 50827810-50827811, 50835781, 50857576, 50857603, 50872823 |
| 123 | MBL2 | 10 | 0.98259705488621 | 13 | 747 | 54529037-54529048, 54531310 |
| 124 | PCDH15 | 10 | 0.98828323993887 | 69 | 5889 | 55587177-55587178, 55587190, 55587193-55587194, 55587200-55587201, 55587235-55587274, 55826517-55826523, 55955477-55955478, 55955481-55955482, 56129003, 56138630, 56138633-56138634, 56138638, 56138659-56138664 |
| 125 | EGR2 | 10 | 0.97763801537386 | 32 | 1431 | 64573004-64573007, 64573016, 64573475-64573483, 64573486-64573503 |
| 126 | PRF1 | 10 | 0.99220623501199 | 13 | 1668 | 72358428, 72358431, 72360371-72360378, 72360399-72360401 |
| 127 | PCBD1 | 10 | 0.99047619047619 | 3 | 315 | 72648288-72648290 |
| 128 | SLC29A3 | 10 | 0.9859943977591 | 20 | 1428 | 73079067, 73111477-73111495 |
| 129 | CDH23 | 10 | 0.99114956245028 | 89 | 10056 | 73375296-73375298, 73464764-73464799, 73501465-73501471, 73537497-73537526, 73565727, 73565739, 73565750-73565754, 73565966, 73566036-73566037, 73573104, 73574845, 73574848 |
| 130 | PSAP | 10 | 0.99619047619048 | 6 | 1575 | 73587854-73587859 |
| 131 | VCL | 10 | 0.96886930983847 | 106 | 3405 | 75757966-75757968, 75758001-75758066, 75758091-75758096, 75758100-75758101, 75758116-75758117, 75758119-75758133, 75854085, 75854115-75854121, 75860845, 75864931, 75873964, 75873968 |
| 132 | MAT1A | 10 | 0.99326599326599 | 8 | 1188 | 82043774, 82043788-82043794 |
| 133 | LDB3 | 10 | 0.97527472527473 | 54 | 2184 | 88476139-88476143, 88476147-88476169, 88476177-88476179, 88476194, 88476234-88476244, 88476268-88476270, 88476274, 88476283-88476287, 88476409, 88476492 |
| 134 | GLUD1 | 10 | 0.7298747763864 | 453 | 1677 | 88834319, 88836362-88836368, 88854082-88854526 |
| 135 | LIPA | 10 | 0.98916666666667 | 13 | 1200 | 90974617-90974619, 90974622, 90988075-90988080, 90988095, 91007339, 91007347 |
| 136 | ANKRD1 | 10 | 0.98333333333333 | 16 | 960 | 92675622-92675625, 92675629, 92675633-92675634, 92678656, 92678699, 92678939, 92678945, 92679016-92679020 |
| 137 | PLCE1 | 10 | 0.99956578376031 | 3 | 6909 | 95987135, 96022320, 96076372 |
| 138 | ZFYVE27 | 10 | 0.99595469255663 | 5 | 1236 | 99504529, 99512831-99512832, 99512835, 99512853 |
| 139 | HPS1 | 10 | 0.97815764482431 | 46 | 2106 | 100177362-100177399, 100183547, 100183561-100183566, 100190940 |
| 140 | ABCC2 | 10 | 0.9997843898232 | 1 | 4638 | 101559124 |
| 141 | PAX2 | 10 | 0.98152424942263 | 24 | 1299 | 102587333-102587334, 102587339-102587360 |
| 142 | C10orf2 | 10 | 0.99951338199513 | 1 | 2055 | 102749423 |
| 143 | FBXW4 | 10 | 0.84665052461663 | 190 | 1239 | 103371136, 103371456-103371458, 103454142-103454143, 103454146, 103454149-103454155, 103454158-103454187, 103454193-103454196, 103454207-103454273, 103454293-103454348, 103454367-103454385 |
| 144 | HPS6 | 10 | 0.77920962199313 | 514 | 2328 | 103825232-103825596, 103825616, 103825621, 103825637, 103825641, 103825645, 103825648-103825657, 103825666-103825668, 103825715, 103825744, 103825759-103825799, 103825807, 103825810-103825823, 103825841, 103825858, 103826044, 103826065-103826072, 103826157, 103826545, 103826557, 103826664-103826668, 103826782, 103826981-103827027, 103827415, 103827433-103827434, 103827445-103827446, 103827449 |
| 145 | SUFU | 10 | 0.90378006872852 | 140 | 1455 | 104263910-104264011, 104264026-104264060, 104309791-104309793 |
| 146 | COL17A1 | 10 | 0.98776145972408 | 55 | 4494 | 105795283-105795303, 105798182-105798188, 105816790-105816793, 105816810-105816823, 105816833-105816839, 105816916, 105833000 |
| 147 | HABP2 | 10 | 0.99643493761141 | 6 | 1683 | 115341864-115341868, 115341889 |
| 148 | EMX2 | 10 | 0.59420289855072 | 308 | 759 | 119302779-119302984, 119302993-119303004, 119303014-119303056, 119303064-119303072, 119303083-119303120 |
| 149 | BAG3 | 10 | 0.87789351851852 | 211 | 1728 | 121411188-121411367, 121436733-121436763 |
| 150 | FGFR2 | 10 | 0.99918798213561 | 2 | 2463 | 123274681-123274682 |
| 151 | ARMS2 | 10 | 0.99382716049383 | 2 | 324 | 124214498, 124214511 |
| 152 | HTRA1 | 10 | 0.72072072072072 | 403 | 1443 | 124221169-124221528, 124221544-124221550, 124221564-124221567, 124221572-124221578, 124221582, 124221586, 124221600-124221605, 124221620-124221621, 124221625-124221632, 124266231-124266237 |
| 153 | ACADSB | 10 | 0.97690531177829 | 30 | 1299 | 124768577-124768587, 124800745-124800746, 124800840-124800841, 124800843, 124800853, 124810579-124810585, 124810599-124810600, 124810605, 124810608-124810610 |
| 154 | OAT | 10 | 0.99848484848485 | 2 | 1320 | 126097198, 126097443 |
| 155 | UROS | 10 | 0.97994987468672 | 16 | 798 | 127477438-127477450, 127477454-127477455, 127477458 |
| 156 | TALDO1 | 11 | 0.87475345167653 | 127 | 1014 | 747482-747578, 755970-755976, 758965-758977, 763391-763392, 763396, 763399-763401, 763406-763409 |
| 157 | SLC25A22 | 11 | 0.8343621399177 | 161 | 972 | 791915-791924, 791932-791936, 792053-792059, 792329-792330, 792594-792602, 792611-792697, 792705-792708, 792714, 792717-792718, 792870-792875, 792879-792880, 792898-792902, 792936, 792941, 792953, 792962, 792965, 794794, 794799-794807, 794891-794895, 794901 |
| 158 | PNPLA2 | 11 | 0.68778877887789 | 473 | 1515 | 819719-819905, 822017, 823555, 823734-823743, 823775-823778, 823809, 823844-823850, 823998-824012, 824014-824017, 824021-824032, 824094-824114, 824314-824319, 824330-824334, 824337-824338, 824348-824351, 824372-824382, 824410-824420, 824430-824435, 824544-824593, 824602-824685, 824719-824733, 824737, 824766, 824797-824799, 824805-824806, 824810, 824813, 824818, 824821-824826 |
| 159 | CTSD | 11 | 0.87328490718321 | 157 | 1239 | 1775035-1775044, 1775065-1775075, 1775224-1775253, 1775328-1775355, 1775361-1775368, 1780201, 1780217, 1785022-1785089 |
| 160 | TNNI2 | 11 | 0.85063752276867 | 82 | 549 | 1861647-1861674, 1861834-1861842, 1861884, 1862070-1862086, 1862101-1862106, 1862112-1862113, 1862133, 1862138, 1862312, 1862330, 1862333-1862344, 1862362, 1862367, 1862372 |
| 161 | H19 | 11 | 0.8562091503268 | 154 | 1071 | 2017360, 2017400-2017403, 2017522, 2017525-2017527, 2017610, 2017642, 2017748-2017770, 2017782-2017813, 2017820-2017831, 2017841-2017849, 2017853-2017854, 2017996, 2018065-2018100, 2018111-2018130, 2018168, 2018336, 2018344-2018345, 2018357, 2018361-2018363 |
| 162 | IGF2 | 11 | 0.74402250351617 | 182 | 711 | 2154226, 2154229, 2154251, 2154254, 2154262, 2154265, 2154270, 2154323, 2154326, 2154340, 2154354, 2154363, 2154374-2154381, 2161365-2161526 |
| 163 | TH | 11 | 0.83746031746032 | 256 | 1575 | 2187710-2187779, 2187863-2187867, 2187876-2187882, 2187902-2187911, 2187941-2187944, 2187956-2187983, 2187991-2187996, 2188131-2188134, 2188159-2188160, 2189739, 2190909, 2190994-2191050, 2191061, 2191920-2191977, 2191993-2191994 |
| 164 | KCNQ1 | 11 | 0.84884293451502 | 307 | 2031 | 2466329-2466581, 2466591-2466602, 2466607-2466629, 2466638-2466644, 2466646, 2466649, 2466652-2466654, 2466667, 2593332-2593334, 2869108, 2869135-2869136 |
| 165 | CDKN1C | 11 | 0.29127234490011 | 674 | 951 | 2905266-2905306, 2905900-2906356, 2906363-2906365, 2906380-2906388, 2906391-2906447, 2906450-2906451, 2906470-2906474, 2906480-2906483, 2906485-2906490, 2906502, 2906505, 2906508, 2906511-2906516, 2906555-2906596, 2906606-2906642, 2906662, 2906709 |
| 166 | HBD | 11 | 0.9481981981982 | 23 | 444 | 5254262-5254271, 5255646-5255658 |
| 167 | SMPD1 | 11 | 0.9789029535865 | 40 | 1896 | 6411871, 6411876, 6411888, 6411911, 6411914-6411915, 6411928-6411936, 6411951, 6411954-6411960, 6412744, 6412748-6412749, 6412762, 6412890-6412893, 6412984-6412988, 6413219-6413221, 6413224 |
| 168 | SBF2 | 11 | 0.98414414414414 | 88 | 5550 | 9838388-9838392, 9838398-9838400, 9838403-9838408, 10013962-10013980, 10315562-10315616 |
| 169 | KCNJ11 | 11 | 0.99914748508099 | 1 | 1173 | 17409326 |
| 170 | ABCC8 | 11 | 0.98314369995786 | 80 | 4746 | 17419278, 17452436-17452441, 17485062-17485066, 17498176-17498179, 17498190, 17498194, 17498231-17498239, 17498250-17498253, 17498275-17498323 |
| 171 | USH1C | 11 | 0.92111111111111 | 213 | 2700 | 17531106-17531113, 17531116, 17531119, 17531123-17531133, 17531139-17531140, 17531151-17531216, 17531225-17531345, 17548772-17548774 |
| 172 | LDHA | 11 | 0.95795795795796 | 42 | 999 | 18418442, 18422424-18422464 |
| 173 | SLC6A5 | 11 | 0.98245614035088 | 42 | 2394 | 20622734, 20622758, 20622798, 20622816-20622817, 20622868-20622869, 20622932-20622933, 20623003, 20623016-20623017, 20623023, 20623026-20623046, 20629187-20629194 |
| 174 | ANO5 | 11 | 0.98103574033552 | 52 | 2742 | 22276984-22276985, 22276992, 22277003-22277040, 22277058-22277068 |
| 175 | FANCF | 11 | 0.97866666666667 | 24 | 1125 | 22646761-22646764, 22646782-22646786, 22646824, 22646834-22646836, 22646844-22646851, 22647243-22647245 |
| 176 | PAX6 | 11 | 0.95902285263987 | 52 | 1269 | 31811482-31811487, 31824288, 31824323-31824360, 31824376-31824382 |
| 177 | WT1 | 11 | 0.75289575289575 | 384 | 1554 | 32449519, 32449522-32449523, 32456344-32456346, 32456355, 32456363, 32456373-32456376, 32456449-32456460, 32456463, 32456503-32456522, 32456531-32456536, 32456546-32456601, 32456615-32456891 |
| 178 | PDHX | 11 | 0.9867197875166 | 20 | 1506 | 34938207, 34938210, 34938218-34938223, 35013884-35013895 |
| 179 | RAG1 | 11 | 0.9977650063857 | 7 | 3132 | 36594924, 36594936, 36595071, 36596339-36596342 |
| 180 | RAG2 | 11 | 0.99494949494949 | 8 | 1584 | 36614150-36614157 |
| 181 | ALX4 | 11 | 0.81715210355987 | 226 | 1236 | 44286435, 44331147-44331183, 44331228-44331261, 44331268-44331317, 44331360-44331413, 44331540-44331574, 44331587-44331601 |
| 182 | SLC35C1 | 11 | 0.96875 | 33 | 1056 | 45827424, 45827428-45827433, 45827614, 45827627-45827629, 45827808, 45827812, 45827824, 45827840-45827852, 45827861-45827866 |
| 183 | PEX16 | 11 | 0.95100864553314 | 51 | 1041 | 45932483-45932513, 45935428-45935436, 45939279-45939289 |
| 184 | F2 | 11 | 0.99732477260567 | 5 | 1869 | 46745002-46745005, 46745012 |
| 185 | DDB2 | 11 | 0.96573208722741 | 44 | 1284 | 47236765-47236808 |
| 186 | MADD | 11 | 0.99271844660194 | 36 | 4944 | 47307086-47307116, 47311452-47311456 |
| 187 | MYBPC3 | 11 | 0.99686274509804 | 12 | 3825 | 47365152-47365159, 47371574-47371577 |
| 188 | SLC39A13 | 11 | 0.98118279569892 | 21 | 1116 | 47431757, 47431761, 47431775, 47433911, 47433916-47433930, 47433936, 47433939 |
| 189 | RAPSN | 11 | 0.96529459241324 | 43 | 1239 | 47460359, 47460370, 47460406-47460408, 47460411-47460418, 47460422-47460429, 47460449-47460455, 47464266, 47464269-47464275, 47464279, 47464291-47464294, 47469520, 47469524 |
| 190 | NDUFS3 | 11 | 0.99874213836478 | 1 | 795 | 47600867 |
| 191 | SERPING1 | 11 | 0.96606786427146 | 51 | 1503 | 57365744-57365794 |
| 192 | BEST1 | 11 | 0.96700796359499 | 58 | 1758 | 61719339, 61719370, 61723219, 61723226-61723229, 61723251-61723283, 61723301-61723318 |
| 193 | ROM1 | 11 | 0.93939393939394 | 64 | 1056 | 62380754-62380803, 62380821-62380830, 62381052, 62381084, 62381087-62381088 |
| 194 | SLC22A12 | 11 | 0.97533092659446 | 41 | 1662 | 64367161-64367173, 64367248-64367251, 64367254-64367257, 64367261, 64367270-64367281, 64367304-64367309, 64367360 |
| 195 | PYGM | 11 | 0.99248714907078 | 19 | 2529 | 64521044, 64521058, 64521112, 64521131, 64527141-64527149, 64527155, 64527158-64527160, 64527163-64527164 |
| 196 | MEN1 | 11 | 0.99404761904762 | 11 | 1848 | 64572127, 64572185, 64572189, 64573154, 64577526-64577532 |
| 197 | RNASEH2C | 11 | 0.93333333333333 | 33 | 495 | 65487854-65487858, 65487862, 65487867-65487872, 65488099, 65488106, 65488174, 65488177, 65488183, 65488189-65488196, 65488217-65488223, 65488227 |
| 198 | EFEMP2 | 11 | 0.97972972972973 | 27 | 1332 | 65639794-65639820 |
| 199 | CST6 | 11 | 0.83777777777778 | 73 | 450 | 65779516-65779532, 65779541-65779547, 65779560, 65779567-65779572, 65779585-65779590, 65779598, 65779630, 65779649-65779680, 65779749, 65780418 |
| 200 | SPTBN2 | 11 | 0.97797295413356 | 158 | 7173 | 66453345-66453349, 66453358, 66453362, 66453373-66453375, 66453478, 66453481, 66455057, 66455339-66455344, 66455349-66455365, 66455731-66455734, 66457709-66457710, 66457715-66457724, 66457730-66457734, 66458814, 66458834-66458840, 66458845, 66458859-66458869, 66458876, 66458879-66458880, 66460477, 66460745-66460747, 66468221, 66468305-66468312, 66468708-66468729, 66468740-66468748, 66472069-66472073, 66472517-66472527, 66472583-66472584, 66472603, 66472609-66472614, 66472621, 66472761, 66472847-66472850, 66473305, 66475127, 66475737 |
| 201 | PC | 11 | 0.98020921685044 | 70 | 3537 | 66618274-66618275, 66618375-66618383, 66620049, 66620098, 66633668-66633671, 66633675, 66633689-66633698, 66633701, 66633757-66633769, 66633814-66633818, 66639158-66639180 |
| 202 | CABP4 | 11 | 0.993961352657 | 5 | 828 | 67225898-67225899, 67225904, 67225912, 67225916 |
| 203 | AIP | 11 | 0.95568982880161 | 44 | 993 | 67256809-67256824, 67257559-67257578, 67257799, 67257815, 67257820, 67257823, 67257835, 67257841-67257842, 67258355 |
| 204 | NDUFS8 | 11 | 0.98736176935229 | 8 | 633 | 67800724-67800731 |
| 205 | TCIRG1 | 11 | 0.9851584436422 | 37 | 2493 | 67808828, 67810131, 67810170, 67810245-67810250, 67810256, 67810933-67810935, 67810948, 67810952, 67810960-67810964, 67811118-67811120, 67811652, 67816557-67816563, 67816567, 67817143, 67817235, 67817238-67817240 |
| 206 | LRP5 | 11 | 0.97215346534653 | 135 | 4848 | 68080183-68080273, 68115694-68115699, 68115706, 68131218-68131219, 68131222, 68131332, 68131335-68131339, 68133136-68133138, 68133141, 68133164-68133170, 68181438-68181440, 68192690, 68207296, 68207339-68207340, 68207343-68207351, 68216527 |
| 207 | CPT1A | 11 | 0.98966408268734 | 24 | 2322 | 68527706, 68527722-68527726, 68527729-68527730, 68527738, 68527750-68527751, 68527754-68527758, 68552324, 68571473-68571479 |
| 208 | IGHMBP2 | 11 | 0.99362843729041 | 19 | 2982 | 68671477, 68678914, 68682409, 68682433, 68682453-68682455, 68704341, 68704528-68704535, 68704538-68704540 |
| 209 | DHCR7 | 11 | 0.96988795518207 | 43 | 1428 | 71146431-71146437, 71146478, 71146484-71146486, 71146571-71146572, 71146577-71146584, 71146663-71146672, 71146677, 71146778, 71146785-71146789, 71146830-71146833, 71146838 |
| 210 | LRTOMT | 11 | 0.98287671232877 | 15 | 876 | 71819749-71819752, 71819772-71819775, 71819780, 71819784, 71819802-71819806 |
| 211 | MYO7A | 11 | 0.99939831528279 | 4 | 6648 | 76858910, 76922282-76922283, 76922295 |
| 212 | ALG8 | 11 | 0.99873497786211 | 2 | 1581 | 77812239-77812240 |
| 213 | FZD4 | 11 | 0.96778190830235 | 52 | 1614 | 86665850, 86665904-86665907, 86665918-86665927, 86666020-86666029, 86666032, 86666081, 86666089-86666091, 86666094-86666114, 86666122 |
| 214 | TYR | 11 | 0.9937106918239 | 10 | 1590 | 88911146, 88961096-88961097, 89028407, 89028410-89028415 |
| 215 | MTMR2 | 11 | 0.99327122153209 | 13 | 1932 | 95657054-95657055, 95657087-95657094, 95657097, 95657105, 95657111 |
| 216 | TRPC6 | 11 | 0.99141630901288 | 24 | 2796 | 101375316-101375319, 101454158, 101454170-101454180, 101454184-101454186, 101454189-101454192, 101454218 |
| 217 | DYNC2H1 | 11 | 0.98308227114716 | 219 | 12945 | 102991473, 102991476, 102991480, 102991497, 102991501-102991504, 102991509-102991511, 102991515-102991519, 102991675, 103029524, 103033871-103033876, 103040887-103040902, 103040972-103040980, 103043818-103043830, 103043841, 103043897-103043901, 103043903-103043905, 103043920-103043931, 103044024-103044026, 103052517-103052518, 103052537-103052540, 103057089, 103062255-103062291, 103062304-103062315, 103062979, 103062988, 103070104, 103070107-103070109, 103082532-103082559, 103092814-103092822, 103106437, 103106452-103106465, 103106475, 103107159, 103107201-103107208, 103126924, 103130682-103130685, 103157043-103157045, 103157112 |
| 218 | ACAT1 | 11 | 0.99610591900312 | 5 | 1284 | 107992346, 107992359, 107992363, 108014714, 108014717 |
| 219 | ATM | 11 | 0.99225820521208 | 71 | 9171 | 108123576, 108124622-108124634, 108124746, 108124749-108124751, 108124766, 108126974, 108127009, 108188175-108188183, 108196071, 108196194-108196231, 108202640, 108224542 |
| 220 | RDX | 11 | 0.99885844748858 | 2 | 1752 | 110106886, 110108292 |
| 221 | ALG9 | 11 | 0.94880174291939 | 94 | 1836 | 111742079-111742093, 111742100-111742145, 111742147-111742167, 111742171-111742172, 111742177, 111742181-111742187, 111742192-111742193 |
| 222 | DLAT | 11 | 0.99279835390947 | 14 | 1944 | 111896401-111896403, 111899609-111899613, 111909975-111909980 |
| 223 | SDHD | 11 | 0.99791666666667 | 1 | 480 | 111959622 |
| 224 | PTS | 11 | 0.99771689497717 | 1 | 438 | 112097168 |
| 225 | APOA1 | 11 | 0.88930348258706 | 89 | 804 | 116706604-116706617, 116706733-116706756, 116706771-116706812, 116706889-116706895, 116707066, 116707070 |
| 226 | FXYD2 | 11 | 0.9634703196347 | 16 | 438 | 117693250-117693252, 117693257-117693269 |
| 227 | SCN4B | 11 | 0.99854439592431 | 1 | 687 | 118023362 |
| 228 | SLC37A4 | 11 | 0.99906367041199 | 1 | 1068 | 118897793 |
| 229 | DPAGT1 | 11 | 0.99674001629992 | 4 | 1227 | 118971359-118971362 |
| 230 | TECTA | 11 | 0.99984532095901 | 1 | 6465 | 121016764 |
| 231 | ROBO3 | 11 | 0.9577024753665 | 176 | 4161 | 124735617, 124738748-124738750, 124738871-124738876, 124738928-124738936, 124742837, 124744750-124744751, 124745547, 124745553, 124745573, 124745907-124745952, 124745969-124745970, 124745974, 124745982-124745983, 124745998-124746000, 124746198, 124746211-124746222, 124746238-124746283, 124746291-124746322, 124749153-124749157, 124749437 |
| 232 | ACAD8 | 11 | 0.98878205128205 | 14 | 1248 | 134123508, 134123520, 134123527-134123528, 134123548-134123551, 134123553, 134123555, 134123558, 134123568-134123569, 134123580 |
| 233 | WNK1 | 12 | 0.97845852566793 | 154 | 7149 | 862736-862739, 862746-862747, 862787-862794, 862817-862904, 862924-862935, 862954-862956, 862965-862966, 862985-862990, 863152, 863263, 968501, 968516-968517, 968520-968523, 988977-988979, 988983, 990912, 994326-994333, 994408, 994757-994759, 995196-995197, 1017844 |
| 234 | CACNA2D4 | 12 | 0.99238429994142 | 26 | 3414 | 1906584, 1906659, 1906662, 1906679-1906681, 1909211-1909217, 1994225-1994231, 2027540, 2027545-2027546, 2027551-2027553 |
| 235 | CACNA1C | 12 | 0.98719707361683 | 84 | 6561 | 2162734-2162740, 2224474, 2224478-2224479, 2622084-2622090, 2760881, 2760884, 2788665, 2791770, 2791827, 2791841, 2794934-2794940, 2797847-2797850, 2797893-2797899, 2797921-2797922, 2797944, 2800169, 2800267, 2800277-2800314 |
| 236 | KCNA1 | 12 | 0.94758064516129 | 78 | 1488 | 5020546-5020562, 5020577, 5020580, 5020585-5020586, 5020592-5020595, 5020621-5020629, 5020634-5020635, 5020647, 5020686-5020687, 5020691-5020696, 5020710, 5020713, 5020727-5020731, 5020737, 5020839-5020863 |
| 237 | VWF | 12 | 0.97950722577588 | 173 | 8442 | 6103119, 6122701-6122702, 6122714, 6122721-6122723, 6127940-6127946, 6128784-6128790, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6155909-6155911, 6155914, 6166023-6166043, 6166049, 6166052, 6166055, 6166074-6166122, 6166164, 6166171, 6166185, 6166197, 6166213, 6166231, 6166236-6166238 |
| 238 | TNFRSF1A | 12 | 0.87280701754386 | 174 | 1368 | 6438516-6438520, 6438545, 6438572-6438574, 6438578-6438580, 6438595-6438651, 6438666-6438691, 6438700-6438748, 6438764-6438788, 6450950-6450954 |
| 239 | SCNN1A | 12 | 0.95061728395062 | 108 | 2187 | 6457045, 6457054, 6457077, 6472610-6472633, 6472644-6472654, 6472681, 6472687, 6472700, 6472705-6472712, 6472732-6472755, 6472768-6472779, 6483822-6483830, 6483835-6483839, 6483846-6483852, 6483855-6483856 |
| 240 | TPI1 | 12 | 0.84666666666667 | 115 | 750 | 6976731-6976845 |
| 241 | ATN1 | 12 | 0.94094598376714 | 211 | 3573 | 7043376-7043378, 7043381, 7043385, 7043432, 7045597-7045623, 7045888-7045942, 7045953-7045978, 7046367-7046370, 7046404-7046419, 7046517, 7046520, 7046531, 7046596-7046602, 7046607, 7046611, 7046712-7046714, 7046718-7046719, 7046722-7046724, 7047132-7047148, 7048049-7048051, 7050631-7050667 |
| 242 | AICDA | 12 | 0.9715242881072 | 17 | 597 | 8756880-8756887, 8756909-8756912, 8757853-8757856, 8757882 |
| 243 | GYS2 | 12 | 0.99952651515152 | 1 | 2112 | 21712059 |
| 244 | ABCC9 | 12 | 0.99118279569892 | 41 | 4650 | 21971140-21971178, 22015920, 22025609 |
| 245 | KRAS | 12 | 0.99824561403509 | 1 | 570 | 25380257 |
| 246 | DNM1L | 12 | 0.98326549072818 | 37 | 2211 | 32832348-32832362, 32832371, 32832382, 32832396-32832399, 32861120-32861131, 32886734, 32890840-32890841, 32890851 |
| 247 | PKP2 | 12 | 0.97573587907717 | 61 | 2514 | 33049443-33049462, 33049465, 33049473-33049481, 33049531-33049535, 33049539, 33049550-33049554, 33049560, 33049564, 33049597, 33049649-33049665 |
| 248 | KIF21A | 12 | 0.98856799037304 | 57 | 4986 | 39703511-39703514, 39726731, 39726735, 39726749-39726750, 39726753, 39726756, 39726760-39726761, 39761779, 39836729-39836772 |
| 249 | LRRK2 | 12 | 0.99551687763713 | 34 | 7584 | 40619053-40619057, 40643700-40643702, 40643705-40643706, 40643715, 40646756-40646763, 40693001-40693007, 40717049-40717050, 40717056, 40717060-40717061, 40717064, 40745465-40745466 |
| 250 | VDR | 12 | 0.99376947040498 | 8 | 1284 | 48238708-48238714, 48238736 |
| 251 | COL2A1 | 12 | 0.99036738351254 | 43 | 4464 | 48371170, 48372464-48372466, 48373317-48373318, 48377511, 48380224, 48383550, 48393838, 48398062-48398091, 48398102-48398104 |
| 252 | PFKM | 12 | 0.99701237729407 | 7 | 2343 | 48534548-48534554 |
| 253 | MLL2 | 12 | 0.95889009269291 | 683 | 16614 | 49420434-49420435, 49420771-49420778, 49420781-49420790, 49421099, 49424117-49424122, 49425137, 49425776, 49425780, 49425796, 49426465, 49426495, 49426558-49426595, 49426641, 49426644-49426645, 49426677-49426806, 49426868-49426884, 49426906-49426916, 49426927-49426937, 49426967, 49427021-49427062, 49427075-49427079, 49427116-49427144, 49427180-49427228, 49427247-49427269, 49427272-49427276, 49427298-49427304, 49427307-49427308, 49427314-49427319, 49427419, 49427423, 49427508-49427533, 49427586-49427589, 49427597, 49427612, 49427639, 49427642-49427643, 49427674-49427676, 49430992-49431002, 49431287-49431355, 49431513-49431553, 49431740-49431741, 49431837-49431839, 49431844-49431845, 49431855, 49431858, 49431862-49431867, 49433270, 49433273-49433276, 49433317, 49433378-49433381, 49433395, 49434038-49434045, 49434050-49434052, 49434082-49434084, 49434087-49434089, 49434095-49434099, 49434111-49434115, 49434517-49434519, 49434942-49434943, 49434994, 49435072-49435118, 49435151, 49436064-49436065, 49448195 |
| 254 | DHH | 12 | 0.83543240973971 | 196 | 1191 | 49483642-49483679, 49483728-49483731, 49483735-49483737, 49483757-49483770, 49483772, 49483793-49483794, 49483802, 49483807, 49483815-49483819, 49483839-49483848, 49483854-49483859, 49483868-49483920, 49483925, 49483931-49483932, 49483950-49483951, 49483957, 49483979-49483988, 49484126, 49484135-49484142, 49488105, 49488189-49488219, 49488238 |
| 255 | TUBA1A | 12 | 0.83333333333333 | 76 | 456 | 49522235-49522266, 49522308-49522314, 49522572-49522608 |
| 256 | AQP2 | 12 | 0.9718137254902 | 23 | 816 | 50349277-50349299 |
| 257 | ACVRL1 | 12 | 0.93650793650794 | 96 | 1512 | 52307025-52307034, 52307414-52307420, 52307430, 52307444-52307449, 52307452, 52307455-52307459, 52307480-52307484, 52308236, 52308250, 52308262-52308295, 52308363, 52309143, 52312877-52312899 |
| 258 | KRT81 | 12 | 0.95256916996047 | 72 | 1518 | 52680194, 52680197, 52684012-52684029, 52684899-52684906, 52685067-52685087, 52685168-52685174, 52685177, 52685183-52685193, 52685199, 52685246-52685248 |
| 259 | KRT86 | 12 | 0.96988364134155 | 44 | 1461 | 52695754, 52695787, 52695880, 52696044-52696051, 52696925-52696934, 52697086, 52699030-52699036, 52699885, 52699888, 52702345-52702351, 52702364-52702369 |
| 260 | KRT83 | 12 | 0.97705802968961 | 34 | 1482 | 52708597-52708598, 52709816-52709822, 52709849-52709852, 52709880, 52713096-52713100, 52713114-52713116, 52713123-52713128, 52714914-52714917, 52714923, 52715034 |
| 261 | KRT6B | 12 | 0.96047197640118 | 67 | 1695 | 52842733, 52844243, 52844246, 52844265, 52845397-52845410, 52845528-52845534, 52845597-52845605, 52845662-52845686, 52845797-52845804 |
| 262 | KRT6C | 12 | 0.88731563421829 | 191 | 1695 | 52862863, 52862866, 52863211-52863213, 52863533-52863539, 52864945-52864951, 52865915-52865928, 52866012-52866013, 52866016, 52866019, 52866022-52866031, 52866060, 52867102-52867129, 52867147-52867193, 52867257-52867267, 52867321-52867345, 52867456-52867487 |
| 263 | KRT6A | 12 | 0.98289085545723 | 29 | 1695 | 52881508-52881511, 52882206-52882207, 52882210, 52886553-52886559, 52886601, 52886772-52886778, 52886908-52886914 |
| 264 | KRT5 | 12 | 0.94472645234067 | 98 | 1773 | 52908735-52908736, 52908768, 52908826-52908849, 52908869-52908908, 52908919-52908923, 52908926-52908929, 52908939, 52908942, 52908945-52908949, 52908965, 52908968, 52908993-52908996, 52912893, 52912900-52912902, 52912905-52912906, 52912915, 52912929-52912930 |
| 265 | KRT2 | 12 | 0.99739583333333 | 5 | 1920 | 53039080, 53040621, 53040626, 53040645, 53045860 |
| 266 | KRT1 | 12 | 0.98036175710594 | 38 | 1935 | 53069223-53069243, 53070145, 53070148-53070163 |
| 267 | ITGA7 | 12 | 0.99153531815528 | 29 | 3426 | 56078899, 56082675, 56086670, 56086694-56086700, 56086706-56086714, 56088562-56088570, 56101462 |
| 268 | RDH5 | 12 | 0.98537095088819 | 14 | 957 | 56114969-56114970, 56115172-56115181, 56117768-56117769 |
| 269 | SUOX | 12 | 0.98901098901099 | 18 | 1638 | 56396006-56396022, 56397719 |
| 270 | MYO1A | 12 | 0.99872286079183 | 4 | 3132 | 57431768, 57431788, 57431802-57431803 |
| 271 | KIF5A | 12 | 0.99257825104873 | 23 | 3099 | 57944056-57944061, 57944065-57944074, 57944088-57944090, 57944097, 57944165-57944167 |
| 272 | CYP27B1 | 12 | 0.99214145383104 | 12 | 1527 | 58158187-58158194, 58159152, 58159209-58159210, 58159813 |
| 273 | TSFM | 12 | 0.9918200408998 | 8 | 978 | 58176592-58176593, 58176595, 58176627-58176628, 58176631, 58190180, 58190297 |
| 274 | GNS | 12 | 0.96986136226643 | 50 | 1659 | 65138589-65138597, 65141671-65141672, 65152965-65152972, 65152982-65152990, 65153004-65153025 |
| 275 | LEMD3 | 12 | 0.88011695906433 | 328 | 2736 | 65563384, 65563390, 65563397-65563401, 65563404, 65563407-65563408, 65563422-65563440, 65563464-65563489, 65563503, 65563508-65563515, 65563521-65563524, 65563585, 65563605, 65563609, 65563612-65563635, 65563640, 65563651-65563677, 65563723, 65563726-65563728, 65563738-65563795, 65563804, 65563819-65563823, 65563833-65563849, 65563862-65563924, 65563935, 65563966-65563974, 65563980-65563981, 65563985-65563987, 65564080, 65564373-65564376, 65609789, 65612364-65612399 |
| 276 | BBS10 | 12 | 0.99953959484346 | 1 | 2172 | 76742081 |
| 277 | CEP290 | 12 | 0.98978494623656 | 76 | 7440 | 88465627, 88471592, 88472953-88472964, 88472967, 88472970-88472971, 88472996, 88481557-88481565, 88505498-88505508, 88512308-88512315, 88519062, 88519077-88519080, 88520130, 88522723, 88533281, 88534988-88535009 |
| 278 | HAL | 12 | 0.97467071935157 | 50 | 1974 | 96380872-96380911, 96380958, 96380961, 96389504, 96389627-96389633 |
| 279 | TMPO | 12 | 0.94340527577938 | 118 | 2085 | 98909688-98909691, 98909709, 98909722-98909751, 98909755, 98909761-98909768, 98909771, 98909786-98909787, 98909790-98909809, 98909848-98909850, 98909854-98909866, 98909886-98909901, 98909909-98909924, 98928014-98928016 |
| 280 | SLC25A3 | 12 | 0.99724517906336 | 3 | 1089 | 98987869-98987871 |
| 281 | SLC17A8 | 12 | 0.99435028248588 | 10 | 1770 | 100774560-100774567, 100774573, 100797880 |
| 282 | PAH | 12 | 0.97350993377483 | 36 | 1359 | 103288614-103288649 |
| 283 | UNG | 12 | 0.9171974522293 | 78 | 942 | 109535524-109535577, 109535599-109535616, 109536345, 109536355-109536359 |
| 284 | MMAB | 12 | 0.99867197875166 | 1 | 753 | 110011214 |
| 285 | TRPV4 | 12 | 0.99579510703364 | 11 | 2616 | 110238474-110238481, 110252385-110252387 |
| 286 | ATP2A2 | 12 | 0.9622882710131 | 118 | 3129 | 110719595-110719712 |
| 287 | ATXN2 | 12 | 0.82115677321157 | 705 | 3942 | 111908362-111908366, 111908509, 112036588-112037250, 112037258-112037284, 112037306-112037314 |
| 288 | PTPN11 | 12 | 0.98484848484848 | 27 | 1782 | 112856916-112856929, 112891105-112891111, 112893775, 112893784-112893788 |
| 289 | TBX5 | 12 | 0.96146435452794 | 60 | 1557 | 114793487, 114793490, 114804012-114804023, 114804115-114804117, 114804120-114804126, 114804137-114804151, 114841604, 114841678-114841697 |
| 290 | TBX3 | 12 | 0.86379928315412 | 304 | 2232 | 115109669-115109689, 115109851-115109854, 115109881, 115109883, 115109892-115109893, 115109902-115109905, 115110043, 115111974-115111982, 115111990-115111997, 115112010, 115112027-115112062, 115112076-115112078, 115112085-115112095, 115112099-115112104, 115112108, 115112142, 115112147-115112152, 115112225-115112227, 115112232-115112253, 115112275, 115112296, 115112299-115112303, 115112318-115112330, 115112353-115112403, 115112442-115112444, 115112449-115112458, 115112464, 115112469-115112473, 115112505, 115112515-115112516, 115112536-115112573, 115112583-115112613, 115118773 |
| 291 | ACADS | 12 | 0.98950766747377 | 13 | 1239 | 121163710-121163715, 121163717, 121163721-121163725, 121176674 |
| 292 | HNF1A | 12 | 0.96571729957806 | 65 | 1896 | 121416589, 121416598, 121416606-121416607, 121416615-121416617, 121416622, 121416771, 121434153-121434177, 121434453, 121435284, 121437286-121437312, 121437382, 121437411 |
| 293 | ATP6V0A2 | 12 | 0.99260987942435 | 19 | 2571 | 124197138-124197152, 124197167-124197170 |
| 294 | PUS1 | 12 | 0.86682242990654 | 171 | 1284 | 132414268-132414341, 132414452-132414533, 132425993-132425999, 132426003-132426004, 132426007-132426009, 132426015-132426017 |
| 295 | GJB6 | 13 | 0.99618320610687 | 3 | 786 | 20797346-20797348 |
| 296 | SGCG | 13 | 0.99200913242009 | 7 | 876 | 23777836-23777842 |
| 297 | SACS | 13 | 0.98901018922853 | 151 | 13740 | 23949258-23949408 |
| 298 | CENPJ | 13 | 0.99651481204879 | 14 | 4017 | 25457481-25457486, 25480462-25480469 |
| 299 | PDX1 | 13 | 0.56338028169014 | 372 | 852 | 28494306-28494308, 28494312, 28494316, 28494351, 28494357-28494359, 28494367-28494371, 28494398-28494421, 28494428-28494463, 28494477-28494514, 28494535-28494571, 28494635, 28498393-28498414, 28498420-28498440, 28498503-28498535, 28498578, 28498603-28498662, 28498671-28498735, 28498760-28498767, 28498781-28498782, 28498786-28498791, 28498800-28498802, 28498808 |
| 300 | B3GALTL | 13 | 0.95323981295925 | 70 | 1497 | 31774222-31774291 |
| 301 | BRCA2 | 13 | 0.99941503363557 | 6 | 10257 | 32912353-32912356, 32912360, 32971138 |
| 302 | SPG20 | 13 | 0.99800099950025 | 4 | 2001 | 36909962-36909965 |
| 303 | FREM2 | 13 | 0.99621451104101 | 36 | 9510 | 39261576-39261580, 39261585, 39261609-39261615, 39261630-39261633, 39261637-39261644, 39261709, 39261909-39261913, 39261919, 39261935, 39261942, 39261952, 39261958 |
| 304 | SLC25A15 | 13 | 0.99889624724062 | 1 | 906 | 41373403 |
| 305 | TNFSF11 | 13 | 0.96540880503145 | 33 | 954 | 43148449-43148450, 43148455, 43148472-43148473, 43148490-43148508, 43148531-43148533, 43148540-43148541, 43148555-43148556, 43148565-43148566 |
| 306 | SUCLA2 | 13 | 0.96192528735632 | 53 | 1392 | 48547467, 48547513-48547517, 48570984-48571026, 48571048, 48571061-48571062, 48575345 |
| 307 | RB1 | 13 | 0.95191962683889 | 134 | 2787 | 48878059-48878185, 48947583-48947589 |
| 308 | RNASEH2B | 13 | 0.93184238551651 | 64 | 939 | 51484213-51484276 |
| 309 | ATP7B | 13 | 0.99909049567985 | 4 | 4398 | 52518287-52518288, 52518291, 52518380 |
| 310 | CLN5 | 13 | 0.9281045751634 | 88 | 1224 | 77566095-77566114, 77566126-77566135, 77566158, 77566192-77566194, 77566262-77566268, 77566274-77566316, 77566334-77566336, 77566405 |
| 311 | EDNRB | 13 | 0.99849510910459 | 2 | 1329 | 78492678-78492679 |
| 312 | SLITRK1 | 13 | 0.99760879961741 | 5 | 2091 | 84454002-84454004, 84454007-84454008 |
| 313 | ZIC2 | 13 | 0.47592245153221 | 838 | 1599 | 100634319-100634830, 100634865, 100634875, 100634927, 100635001-100635049, 100635058-100635064, 100635196, 100637344-100637345, 100637348, 100637577-100637604, 100637615-100637657, 100637671-100637677, 100637697-100637868, 100637887-100637889, 100637892, 100637896, 100637902-100637909 |
| 314 | PCCA | 13 | 0.96936442615455 | 67 | 2187 | 100741375-100741390, 100741396-100741401, 100741430-100741467, 100861598, 100909872-100909873, 100909912-100909915 |
| 315 | ERCC5 | 13 | 0.99056381221986 | 40 | 4239 | 103510668, 103514595-103514597, 103514601, 103515167-103515185, 103515391-103515393, 103515396-103515399, 103518146-103518147, 103518695-103518701 |
| 316 | COL4A1 | 13 | 0.98522954091816 | 74 | 5010 | 110804834, 110817250-110817251, 110822905, 110864246-110864250, 110864254-110864255, 110864258, 110959313-110959374 |
| 317 | F7 | 13 | 0.86591760299625 | 179 | 1335 | 113765004-113765164, 113770006-113770008, 113772948-113772951, 113772961-113772966, 113772982-113772983, 113773037, 113773313, 113773316 |
| 318 | F10 | 13 | 0.98364008179959 | 24 | 1467 | 113777170-113777190, 113798228, 113798231-113798232 |
| 319 | GRK1 | 13 | 0.98463356973995 | 26 | 1692 | 114321810-114321811, 114321936, 114322133-114322135, 114322148, 114325862-114325872, 114325883-114325886, 114325894, 114325897, 114325970-114325971 |
| 320 | TEP1 | 14 | 0.99594114662608 | 32 | 7884 | 20840929-20840931, 20850148-20850149, 20850473, 20851743, 20851763-20851786, 20854726 |
| 321 | RPGRIP1 | 14 | 0.996632996633 | 13 | 3861 | 21769150-21769157, 21769160-21769164 |
| 322 | SLC7A7 | 14 | 0.98828125 | 18 | 1536 | 23282110-23282114, 23282126-23282138 |
| 323 | PABPN1 | 14 | 0.61889250814332 | 351 | 921 | 23790679-23791029 |
| 324 | MYH6 | 14 | 0.99742268041237 | 15 | 5820 | 23855240, 23855248, 23858212-23858213, 23858216-23858217, 23858231, 23858234, 23858237-23858238, 23858250-23858254 |
| 325 | MYH7 | 14 | 0.98433195592287 | 91 | 5808 | 23883283-23883288, 23884634-23884637, 23884947-23884949, 23885516-23885518, 23886744-23886765, 23886887-23886889, 23887510-23887516, 23887527-23887539, 23887542, 23887562-23887584, 23887588-23887589, 23897829, 23898490-23898492 |
| 326 | NRL | 14 | 0.71848739495798 | 201 | 714 | 24550502, 24550515, 24550554-24550594, 24550611-24550620, 24550627-24550704, 24550706-24550775 |
| 327 | PCK2 | 14 | 0.99739989599584 | 5 | 1923 | 24566298, 24566306, 24566309, 24568261-24568262 |
| 328 | TINF2 | 14 | 0.99262536873156 | 10 | 1356 | 24711491-24711498, 24711502-24711503 |
| 329 | TGM1 | 14 | 0.9959250203749 | 10 | 2454 | 24727502, 24727508-24727510, 24727520-24727523, 24727528, 24727531 |
| 330 | FOXG1 | 14 | 0.66190476190476 | 497 | 1470 | 29236486-29236971, 29237085, 29237262, 29237320, 29237334-29237335, 29237341, 29237607-29237608, 29237628, 29237636-29237637 |
| 331 | COCH | 14 | 0.99637023593466 | 6 | 1653 | 31344262-31344267 |
| 332 | CFL2 | 14 | 0.9940119760479 | 3 | 501 | 35183744-35183746 |
| 333 | NKX2-1 | 14 | 0.50580431177446 | 596 | 1206 | 36986521, 36986531, 36986545, 36986578-36986595, 36986602-36986622, 36986629-36986637, 36986661-36986786, 36986801-36986802, 36986808, 36986814-36986843, 36986862-36986864, 36986866, 36986875-36986893, 36986897-36986900, 36986915-36986922, 36986963-36986999, 36987015-36987037, 36987057-36987098, 36987118-36987158, 36988190-36988231, 36988240-36988246, 36988269-36988287, 36988290-36988291, 36988296-36988303, 36988325, 36988345-36988349, 36988368-36988409, 36988415-36988430, 36988439, 36988444, 36988456, 36988462-36988464, 36989258-36989291, 36989303-36989328 |
| 334 | PAX9 | 14 | 0.9990253411306 | 1 | 1026 | 37132418 |
| 335 | FANCM | 14 | 0.9977224662437 | 14 | 6147 | 45605364, 45605367-45605374, 45605380, 45650858, 45667872, 45667889, 45667980 |
| 336 | C14orf104 | 14 | 0.81105807478123 | 475 | 2514 | 50100604, 50100610, 50100615, 50100624, 50100679, 50100683, 50100691-50100699, 50100717-50100726, 50100747-50100758, 50100774-50100776, 50100780-50100849, 50100872-50100933, 50100936, 50100940-50100943, 50100955, 50100957-50100962, 50100970-50100972, 50100979-50100984, 50100993, 50101007-50101011, 50101020-50101062, 50101083-50101088, 50101094, 50101097-50101123, 50101138, 50101142-50101146, 50101149-50101152, 50101164, 50101169, 50101214, 50101217-50101227, 50101238, 50101252-50101255, 50101258, 50101266-50101269, 50101330-50101374, 50101377-50101388, 50101394, 50101407, 50101415-50101416, 50101457-50101467, 50101481-50101490, 50101519, 50101529-50101586, 50101607-50101622, 50101682, 50101743-50101749 |
| 337 | L2HGDH | 14 | 0.98922413793103 | 15 | 1392 | 50778780-50778794 |
| 338 | ATL1 | 14 | 0.99759326113117 | 4 | 1662 | 51098965-51098968 |
| 339 | PYGL | 14 | 0.99213836477987 | 20 | 2544 | 51410933-51410942, 51410946-51410954, 51410982 |
| 340 | GCH1 | 14 | 0.67729083665339 | 243 | 753 | 55369086-55369118, 55369131-55369157, 55369199-55369381 |
| 341 | OTX2 | 14 | 0.99888143176734 | 1 | 894 | 57268889 |
| 342 | SIX6 | 14 | 0.9608636977058 | 29 | 741 | 60976377-60976383, 60976533, 60977828-60977844, 60977864-60977866, 60977871 |
| 343 | SIX1 | 14 | 0.90526315789474 | 81 | 855 | 61115425-61115439, 61115500, 61115503-61115505, 61115560, 61115563-61115568, 61115576-61115585, 61115591-61115593, 61115611, 61115725-61115751, 61115790-61115803 |
| 344 | SYNE2 | 14 | 0.99565720903301 | 90 | 20724 | 64483265-64483277, 64483280-64483282, 64518487, 64518608-64518611, 64518615-64518624, 64518635, 64634288-64634290, 64676688, 64676759, 64676763, 64676773, 64676782-64676802, 64676811-64676820, 64676823-64676828, 64692049-64692060, 64692111-64692112 |
| 345 | ZFYVE26 | 14 | 0.98871391076115 | 86 | 7620 | 68215259-68215261, 68215298-68215304, 68241751-68241755, 68242683-68242693, 68274188-68274215, 68274493-68274508, 68274547-68274561, 68282649 |
| 346 | PSEN1 | 14 | 0.99928774928775 | 1 | 1404 | 73678579 |
| 347 | VSX2 | 14 | 0.83333333333333 | 181 | 1086 | 74706289-74706290, 74706311-74706345, 74706370-74706397, 74706408-74706409, 74706412, 74706415-74706467, 74706473-74706475, 74706524-74706571, 74706598, 74706616-74706618, 74726313-74726315, 74726318-74726319 |
| 348 | EIF2B2 | 14 | 0.98768939393939 | 13 | 1056 | 75471519, 75471533, 75471537-75471539, 75471544-75471549, 75471555, 75471596 |
| 349 | MLH3 | 14 | 0.99954149472719 | 2 | 4362 | 75506614, 75506682 |
| 350 | FLVCR2 | 14 | 0.98798228969007 | 19 | 1581 | 76045449, 76045497-76045514 |
| 351 | TGFB3 | 14 | 0.99919289749798 | 1 | 1239 | 76447202 |
| 352 | ESRRB | 14 | 0.9456450556647 | 83 | 1527 | 76905767-76905773, 76905808-76905809, 76957954-76957960, 76964608, 76964653-76964687, 76964690-76964701, 76964704-76964705, 76964707-76964723 |
| 353 | POMT2 | 14 | 0.94496227252552 | 124 | 2253 | 77745191-77745193, 77786799-77786837, 77786847, 77786856, 77786861, 77786864-77786865, 77786868-77786878, 77786888, 77786895-77786897, 77786909-77786912, 77786919, 77786936, 77786963-77787008, 77787014-77787023 |
| 354 | GALC | 14 | 0.94169096209913 | 120 | 2058 | 88459332-88459347, 88459355, 88459358-88459389, 88459395-88459435, 88459441-88459445, 88459451-88459475 |
| 355 | SPATA7 | 14 | 0.99 | 18 | 1800 | 88903911, 88903914-88903917, 88903923, 88904718-88904729 |
| 356 | TTC8 | 14 | 0.9625322997416 | 58 | 1548 | 89337918, 89343661-89343694, 89343704-89343726 |
| 357 | FBLN5 | 14 | 0.9977728285078 | 3 | 1347 | 92349402-92349404 |
| 358 | ATXN3 | 14 | 0.98250460405157 | 19 | 1086 | 92537351-92537367, 92537377-92537378 |
| 359 | VRK1 | 14 | 0.9983207388749 | 2 | 1191 | 97304107, 97304115 |
| 360 | AMN | 14 | 0.47650513950073 | 713 | 1362 | 103390107, 103390118, 103390140-103390156, 103394823-103394824, 103394828-103394834, 103395121-103395129, 103395153-103395187, 103395215, 103395234-103395236, 103395239-103395255, 103395259, 103395262-103395265, 103395288-103395291, 103395458-103395460, 103395471-103395472, 103395490-103395595, 103395765-103395807, 103395823-103395841, 103396004-103396054, 103396273-103396275, 103396289-103396290, 103396297, 103396317-103396335, 103396377-103396411, 103396421-103396423, 103396502-103396664, 103396743-103396824, 103396830, 103396913-103396957, 103396970-103396980, 103396988-103396994, 103397003-103397017 |
| 361 | INF2 | 14 | 0.8168 | 687 | 3750 | 105167704, 105167721, 105167863, 105167920-105167922, 105167934-105167937, 105167964-105168005, 105168011-105168019, 105169651-105169653, 105169756-105169758, 105170253-105170273, 105172500-105172501, 105173288, 105173596-105173606, 105173611-105173620, 105173640, 105173644-105173650, 105173658-105173735, 105173750-105173752, 105173756-105173778, 105173789-105173794, 105173809-105173811, 105173856-105174158, 105174165, 105174167, 105174176, 105174179, 105174186-105174189, 105174201-105174249, 105174265-105174306, 105174830, 105174896, 105175980-105175985, 105175998, 105176009-105176015, 105177489, 105177496-105177497, 105177500-105177504, 105177507, 105178029-105178031, 105179594-105179617 |
| 362 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 363 | SNRPN | 15 | 0.99170124481328 | 6 | 723 | 25222094, 25222098, 25222102-25222104, 25222964 |
| 364 | UBE3A | 15 | 0.99657534246575 | 9 | 2628 | 25584324, 25584327, 25616679-25616685 |
| 365 | OCA2 | 15 | 0.99205403257847 | 20 | 2517 | 28202758, 28202798-28202803, 28234774-28234775, 28234778, 28273134, 28326952, 28326972-28326978, 28326982 |
| 366 | TRPM1 | 15 | 0.99688279301746 | 15 | 4812 | 31295267, 31320556-31320560, 31320563, 31320629-31320633, 31320637, 31342651-31342652 |
| 367 | SLC12A6 | 15 | 0.99797277729511 | 7 | 3453 | 34527481-34527484, 34532910-34532911, 34549858 |
| 368 | ACTC1 | 15 | 0.99911816578483 | 1 | 1134 | 35086925 |
| 369 | SPRED1 | 15 | 0.99700374531835 | 4 | 1335 | 38614523-38614526 |
| 370 | IVD | 15 | 0.98907103825137 | 14 | 1281 | 40698080-40698088, 40699921-40699925 |
| 371 | CHST14 | 15 | 0.7763041556145 | 253 | 1131 | 40763413-40763589, 40763630-40763637, 40763640-40763641, 40763644, 40763665-40763669, 40763682-40763702, 40763783-40763784, 40763795-40763827, 40763829-40763830, 40763998, 40764157 |
| 372 | CAPN3 | 15 | 0.99918300653595 | 2 | 2448 | 42652047, 42652077 |
| 373 | CDAN1 | 15 | 0.86889250814332 | 483 | 3684 | 43019896, 43019899, 43021302, 43021307, 43021434, 43021438-43021441, 43021450-43021451, 43021508-43021510, 43023513-43023516, 43024009-43024010, 43026451, 43026468-43026470, 43026475, 43026483, 43026494-43026507, 43027824, 43028511, 43028531, 43028539, 43028571-43028599, 43028605, 43028608-43028613, 43028624-43028627, 43028670-43028978, 43029211-43029300 |
| 374 | TTBK2 | 15 | 0.99491298527443 | 19 | 3735 | 43067425-43067431, 43067434, 43067445, 43067448-43067449, 43067845-43067850, 43103894, 43103909 |
| 375 | STRC | 15 | 0.92492492492492 | 400 | 5328 | 43896211-43896259, 43896296-43896329, 43900150-43900156, 43905049-43905084, 43905277, 43905308-43905309, 43905325-43905358, 43907745-43907751, 43908047-43908082, 43908117, 43908184-43908186, 43908559-43908561, 43909898-43909946, 43910076-43910081, 43910178-43910227, 43910420-43910443, 43910863-43910920 |
| 376 | STRC | 15 | 0.93132328308208 | 41 | 597 | 44004765-44004766, 44004770-44004773, 44004787-44004821 |
| 377 | STRC | 15 | 0.92615384615385 | 144 | 1950 | 44007207-44007213, 44007509-44007544, 44007579, 44007646-44007648, 44008021-44008023, 44008196, 44009360-44009408, 44009590, 44009603-44009608, 44009611-44009613, 44009638-44009644, 44009651-44009659, 44009672-44009689 |
| 378 | SPG11 | 15 | 0.99386252045827 | 45 | 7332 | 44858465-44858466, 44888989, 44903156, 44912476-44912487, 44914518, 44955637-44955645, 44955664, 44955671, 44955674, 44955688-44955692, 44955696, 44955700-44955704, 44955709, 44955713, 44955719-44955721 |
| 379 | DUOX2 | 15 | 0.94340434689047 | 263 | 4647 | 45393014, 45398344-45398372, 45398396, 45398399-45398400, 45399051-45399064, 45401049, 45401052-45401061, 45401072-45401080, 45401097-45401099, 45403336-45403340, 45403354, 45403357, 45403366, 45403584-45403667, 45403673-45403738, 45403768-45403783, 45403989, 45404023-45404024, 45404040-45404041, 45404801-45404803, 45404811-45404821 |
| 380 | GATM | 15 | 0.95361635220126 | 59 | 1272 | 45670583-45670588, 45670599-45670651 |
| 381 | FBN1 | 15 | 0.99709842154132 | 25 | 8616 | 48719848, 48737701, 48766783, 48791182, 48791191-48791202, 48936954-48936962 |
| 382 | CEP152 | 15 | 0.99577039274924 | 21 | 4965 | 49036516-49036522, 49044619-49044628, 49076170, 49076239-49076241 |
| 383 | TPM1 | 15 | 0.99415204678363 | 5 | 855 | 63335034, 63336020-63336022, 63336028 |
| 384 | PPIB | 15 | 0.9247311827957 | 49 | 651 | 64455100-64455105, 64455113-64455118, 64455120, 64455136-64455138, 64455142-64455162, 64455166-64455177 |
| 385 | CLN6 | 15 | 0.90064102564103 | 93 | 936 | 68500480-68500485, 68504088-68504089, 68504092-68504093, 68521840-68521922 |
| 386 | NR2E3 | 15 | 0.88677536231884 | 125 | 1104 | 72103840-72103841, 72103854-72103856, 72103861-72103868, 72103897-72103938, 72104140-72104155, 72104162-72104195, 72104739-72104749, 72104757-72104760, 72105818-72105822 |
| 387 | BBS4 | 15 | 0.99935897435897 | 1 | 1560 | 73029864 |
| 388 | HCN4 | 15 | 0.65088593576966 | 1261 | 3612 | 73614822-73614837, 73614843-73614934, 73614981, 73615016, 73615023-73615036, 73615039, 73615060-73615065, 73615068, 73615072, 73615079-73615089, 73615115-73615121, 73615135-73615179, 73615198-73615310, 73615366-73615369, 73615391-73615425, 73615477-73615503, 73615509, 73615512-73615519, 73615527-73615565, 73615571-73615625, 73615633-73615640, 73615646, 73615648-73615650, 73615715-73615752, 73615797-73615799, 73615873-73615922, 73615978, 73616060-73616068, 73616074-73616078, 73616080-73616081, 73616093, 73616103-73616108, 73616121-73616213, 73616221-73616227, 73616234, 73616237-73616238, 73616242, 73616251, 73616275, 73616281, 73616568-73616569, 73616574-73616575, 73624534-73624535, 73660001, 73660005-73660007, 73660025, 73660074-73660611 |
| 389 | PSTPIP1 | 15 | 0.99840127897682 | 2 | 1251 | 77325272-77325273 |
| 390 | RPS17 | 15 | 0.97058823529412 | 12 | 408 | 82824436-82824447 |
| 391 | RPS17 | 15 | 0.97058823529412 | 12 | 408 | 83208779-83208790 |
| 392 | FANCI | 15 | 0.99774266365688 | 9 | 3987 | 89835919-89835925, 89836211, 89836220 |
| 393 | POLG | 15 | 0.97043010752688 | 110 | 3720 | 89876605-89876631, 89876673-89876681, 89876693, 89876786, 89876792, 89876810-89876842, 89876845, 89876848-89876849, 89876851-89876859, 89876908-89876910, 89876914, 89876921-89876934, 89876945-89876952 |
| 394 | MESP2 | 15 | 0.70854271356784 | 348 | 1194 | 90319609, 90319644-90319646, 90319761, 90319780-90319781, 90319794-90319796, 90319829-90320112, 90320118-90320144, 90320146, 90320149, 90320242-90320243, 90320253-90320258, 90320360-90320366, 90320385-90320391, 90320431-90320433 |
| 395 | BLM | 15 | 0.99929478138223 | 3 | 4254 | 91337492, 91337498, 91354503 |
| 396 | IGF1R | 15 | 0.97270955165692 | 112 | 4104 | 99192811-99192904, 99250834, 99473521-99473534, 99500551-99500553 |
| 397 | HBZ | 16 | 0.32634032634033 | 289 | 429 | 202990-202993, 203891-204095, 204271-204348, 204397-204398 |
| 398 | HBM | 16 | 0.76525821596244 | 100 | 426 | 216012-216046, 216064-216070, 216306-216315, 216333-216342, 216356-216381, 216392, 216398, 216401-216407, 216411-216412, 216605 |
| 399 | HBA2 | 16 | 0.75757575757576 | 104 | 429 | 222912-222977, 223192-223229 |
| 400 | GNPTG | 16 | 0.94226579520697 | 53 | 918 | 1401967-1402018, 1412282 |
| 401 | CLCN7 | 16 | 0.93052109181141 | 168 | 2418 | 1497039, 1497048, 1497052, 1497075-1497076, 1497080-1497087, 1497555-1497557, 1500610-1500614, 1500619-1500620, 1500624-1500625, 1500634, 1509181, 1524835-1524975 |
| 402 | IGFALS | 16 | 0.9472049689441 | 102 | 1932 | 1840631-1840634, 1840645, 1840766-1840769, 1840853, 1840972, 1841001, 1841019, 1841033, 1841115-1841119, 1841152-1841154, 1841210-1841214, 1841232-1841233, 1841239-1841246, 1841250, 1841266, 1841270-1841274, 1841550, 1841795, 1841826-1841847, 1841925-1841928, 1842064-1842072, 1842074, 1842078-1842081, 1842083-1842087, 1842090-1842092, 1842095-1842096, 1842319, 1842322, 1842415, 1842419-1842421 |
| 403 | GFER | 16 | 0.61003236245955 | 241 | 618 | 2034220-2034371, 2034385-2034389, 2034392-2034396, 2034399-2034477 |
| 404 | TSC2 | 16 | 0.98045722713864 | 106 | 5424 | 2103371, 2103381-2103404, 2103408-2103409, 2103415-2103416, 2104409-2104411, 2106645-2106646, 2114381-2114385, 2121851-2121870, 2121878-2121884, 2124361-2124363, 2124366-2124373, 2129342, 2129425, 2130205-2130207, 2133696-2133697, 2133701, 2133797-2133817 |
| 405 | PKD1 | 16 | 0.80405824039653 | 2530 | 12912 | 2139836-2139839, 2139842-2139843, 2139847, 2139874, 2139881, 2139884, 2139907-2139920, 2139926, 2140056, 2140060-2140062, 2140089-2140095, 2140677-2140682, 2140762, 2140791-2140804, 2140895, 2140898-2140900, 2140904, 2140914-2140915, 2140925-2140947, 2140968-2141043, 2141050-2141175, 2141424-2141542, 2141788, 2141801-2141807, 2141816-2141826, 2142128, 2142131, 2142134-2142137, 2147196-2147200, 2147202, 2147221, 2147224-2147229, 2147240-2147242, 2147400, 2147411-2147415, 2147476, 2147940-2147954, 2149666-2149676, 2149862, 2149876, 2149964-2149965, 2150019-2150025, 2150036-2150072, 2150245-2150251, 2150308-2150310, 2150470-2150484, 2150515-2150521, 2152106-2152132, 2152168-2152174, 2152484-2152490, 2153267-2153268, 2153276-2153326, 2153350-2153398, 2153489-2153495, 2153592-2153598, 2153636, 2153655-2153744, 2153753-2153800, 2153834, 2153839, 2153848-2153885, 2154571-2154577, 2154580, 2154594, 2154599-2154643, 2155333-2155367, 2155426, 2156139, 2156251-2156283, 2156427-2156433, 2156459, 2156466, 2156472, 2156477, 2156494-2156533, 2156541-2156547, 2156597, 2156660-2156671, 2156806-2156824, 2158294, 2158304, 2158317, 2158350-2158356, 2158380-2158395, 2158402, 2158405, 2158509-2158546, 2158562-2158566, 2158570-2158572, 2158681, 2158695-2158731, 2158752, 2158763, 2158890-2158926, 2158933, 2158936-2158938, 2158943, 2159043-2159047, 2159093-2159117, 2159170-2159186, 2159226-2159261, 2159435-2159471, 2159580-2159581, 2159642, 2159645-2159652, 2159657, 2159709-2159735, 2159960-2159966, 2160404, 2160718-2160724, 2160753-2160775, 2161233-2161237, 2161241, 2161306-2161334, 2161466-2161475, 2161752-2161753, 2161764-2161765, 2161794-2161837, 2162426, 2163171-2163185, 2164171-2164178, 2164406, 2164461-2164469, 2164472-2164473, 2164476-2164477, 2164700-2164706, 2164805-2164819, 2164914, 2165993-2166000, 2166002, 2166014-2166015, 2166021-2166025, 2166033-2166043, 2166530-2166536, 2166552-2166595, 2166834-2166845, 2166862, 2166915-2166938, 2166975-2167001, 2167589-2167638, 2167671, 2167829-2167856, 2167871-2167881, 2167899-2168003, 2168028-2168075, 2168140-2168221, 2168230-2168260, 2168279, 2168284, 2168287-2168288, 2168306-2168442, 2168701-2168725, 2169115, 2169349-2169379, 2185476-2185690 |
| 406 | ABCA3 | 16 | 0.99217986314761 | 40 | 5115 | 2328409-2328413, 2328422-2328433, 2334332, 2334355-2334358, 2335446-2335448, 2338050-2338051, 2338071, 2338077, 2338082-2338083, 2338118, 2367762, 2369655, 2369658-2369662, 2369666 |
| 407 | MEFV | 16 | 0.93904518329071 | 143 | 2346 | 3304209, 3304283-3304284, 3304403-3304412, 3304433-3304453, 3304457, 3304500-3304533, 3304552, 3304555-3304557, 3304582, 3304610-3304636, 3304646-3304649, 3304654, 3304669-3304680, 3304683-3304686, 3304703-3304704, 3304719-3304721, 3304723-3304726, 3304733-3304736, 3304751-3304757, 3304762 |
| 408 | SLX4 | 16 | 0.98019981834696 | 109 | 5505 | 3632380-3632384, 3632395-3632398, 3632497, 3632503, 3632507, 3632535-3632554, 3632573-3632621, 3639254, 3639787-3639790, 3639797-3639798, 3639804, 3639809, 3639814-3639819, 3639825, 3642814-3642820, 3642824, 3647910, 3647918-3647920 |
| 409 | CREBBP | 16 | 0.91240278346296 | 642 | 7329 | 3777719-3777766, 3778305-3778311, 3778403-3778411, 3778420-3778430, 3778434-3778454, 3778457-3778458, 3778464-3778467, 3778563-3778600, 3778630, 3778633-3778638, 3778650, 3778683-3778689, 3778780-3778791, 3778794-3778795, 3778804-3778814, 3778850-3778852, 3778881, 3778899, 3778920-3778983, 3778991-3779026, 3779055, 3779076-3779083, 3779101-3779116, 3779166, 3779176-3779182, 3779186, 3779205-3779209, 3779223-3779229, 3779238-3779306, 3779320-3779354, 3779381-3779387, 3779401-3779402, 3779407, 3779410-3779416, 3779435-3779444, 3779452, 3779455-3779458, 3779464-3779480, 3779485-3779497, 3779533-3779544, 3779626-3779628, 3779711-3779716, 3779758-3779774, 3820578, 3820586-3820594, 3831230, 3900797, 3900801-3900810, 3929833-3929917 |
| 410 | GLIS2 | 16 | 0.89650793650794 | 163 | 1575 | 4384859-4384861, 4384865, 4384953, 4384968, 4386732-4386734, 4386738, 4386814, 4386818, 4386821-4386823, 4386839, 4386946-4386948, 4386951-4386952, 4386957, 4386960, 4386963, 4386984, 4386999-4387001, 4387034-4387041, 4387044, 4387062, 4387067, 4387071-4387076, 4387088, 4387098-4387106, 4387120-4387145, 4387161-4387206, 4387218-4387224, 4387362-4387364, 4387368-4387377, 4387388-4387401, 4387466, 4387484 |
| 411 | ALG1 | 16 | 0.89749103942652 | 143 | 1395 | 5121851-5121864, 5121895, 5122008, 5128817, 5128830-5128836, 5128842-5128844, 5128860-5128865, 5130969-5130999, 5131013-5131052, 5134802-5134833, 5134876-5134882 |
| 412 | ABAT | 16 | 0.99268130405855 | 11 | 1503 | 8870304, 8870309-8870310, 8875169-8875176 |
| 413 | PMM2 | 16 | 0.99460188933873 | 4 | 741 | 8891740, 8891751-8891752, 8891762 |
| 414 | MYH11 | 16 | 0.9979797979798 | 12 | 5940 | 15811128-15811135, 15811145, 15811165-15811166, 15811186 |
| 415 | ABCC6 | 16 | 0.97960992907801 | 92 | 4512 | 16251652-16251653, 16251656, 16253433-16253440, 16255351-16255353, 16259518, 16263541-16263558, 16276750-16276753, 16302586, 16313421, 16313509-16313515, 16313789-16313795, 16315525-16315533, 16315637, 16315654, 16315659, 16317265-16317291 |
| 416 | UMOD | 16 | 0.96619864794592 | 65 | 1923 | 20344675, 20359571-20359576, 20359779-20359784, 20359811-20359817, 20359853-20359888, 20359986, 20359990-20359993, 20360123, 20360138, 20360141, 20360193 |
| 417 | OTOA | 16 | 0.99883040935673 | 4 | 3420 | 21696600, 21747633, 21747639, 21747697 |
| 418 | SCNN1G | 16 | 0.98923076923077 | 21 | 1950 | 23197690-23197710 |
| 419 | SCNN1B | 16 | 0.98491939677587 | 29 | 1923 | 23359945-23359948, 23359981-23359997, 23391891, 23391895-23391899, 23391915, 23391924 |
| 420 | COG7 | 16 | 0.99956766104626 | 1 | 2313 | 23415113 |
| 421 | PALB2 | 16 | 0.99943836001123 | 2 | 3561 | 23640585, 23647642 |
| 422 | CLN3 | 16 | 0.96735003796507 | 43 | 1317 | 28493461-28493463, 28493467, 28495342-28495349, 28497668-28497674, 28497685-28497708 |
| 423 | TUFM | 16 | 0.98611111111111 | 19 | 1368 | 28857410-28857414, 28857421, 28857555-28857563, 28857587-28857590 |
| 424 | ATP2A1 | 16 | 0.97737857618097 | 68 | 3006 | 28911946-28911952, 28911967-28911968, 28912009, 28912012, 28912022-28912025, 28912090-28912096, 28912110-28912113, 28912142-28912143, 28912151-28912157, 28912164, 28912168-28912169, 28914373, 28914644, 28914693-28914716, 28914757-28914760 |
| 425 | CD19 | 16 | 0.99700777977259 | 5 | 1671 | 28943769, 28943772-28943774, 28948368 |
| 426 | PHKG2 | 16 | 0.9033579033579 | 118 | 1221 | 30760142-30760236, 30764722-30764738, 30768329-30768334 |
| 427 | VKORC1 | 16 | 0.99390243902439 | 3 | 492 | 31104735-31104736, 31105975 |
| 428 | FUS | 16 | 0.94876660341556 | 81 | 1581 | 31195269-31195272, 31195276, 31195279, 31195282, 31195300-31195303, 31195313-31195321, 31195585, 31195685-31195717, 31196406-31196413, 31196426-31196441, 31202355-31202357 |
| 429 | SLC5A2 | 16 | 0.94452699356117 | 112 | 2019 | 31499943-31499961, 31500028-31500044, 31500047, 31500051-31500056, 31500071-31500093, 31500315, 31500318, 31500444-31500477, 31501435-31501440, 31501750, 31501767-31501769 |
| 430 | PHKB | 16 | 0.99908592321755 | 3 | 3282 | 47533776, 47545619-47545620 |
| 431 | NOD2 | 16 | 0.97726544988793 | 71 | 3123 | 50733453-50733457, 50744747-50744748, 50745066, 50745097, 50745222-50745230, 50745805-50745807, 50745844-50745893 |
| 432 | CYLD | 16 | 0.99720475192173 | 8 | 2862 | 50785702-50785704, 50785741-50785742, 50825511, 50826564, 50826567 |
| 433 | SALL1 | 16 | 0.95522012578616 | 178 | 3975 | 51175406-51175454, 51175640-51175734, 51185077-51185086, 51185093-51185116 |
| 434 | RPGRIP1L | 16 | 0.98885511651469 | 44 | 3948 | 53672228-53672230, 53672249, 53672253, 53672298-53672307, 53672318-53672323, 53679672-53679679, 53682884-53682890, 53691440, 53691443-53691449 |
| 435 | MMP2 | 16 | 0.95663136661624 | 86 | 1983 | 55513399-55513401, 55513418-55513466, 55513473-55513484, 55513493, 55513522-55513539, 55525741, 55530869, 55530879 |
| 436 | SLC12A3 | 16 | 0.97704494018752 | 71 | 3093 | 56899184-56899228, 56899259-56899269, 56901096-56901107, 56913504, 56921856, 56921928 |
| 437 | COQ9 | 16 | 0.95506792058516 | 43 | 957 | 57481418, 57481427-57481467, 57485060 |
| 438 | GPR56 | 16 | 0.99709302325581 | 6 | 2064 | 57687231, 57689439-57689442, 57689883 |
| 439 | CNGB1 | 16 | 0.98189563365282 | 68 | 3756 | 57918178-57918206, 57918212-57918246, 57931438, 57957198, 57957201-57957202 |
| 440 | TK2 | 16 | 0.93831168831169 | 57 | 924 | 66583841-66583881, 66583903, 66583906, 66583912, 66584032, 66584041-66584046, 66584058-66584063 |
| 441 | HSD11B2 | 16 | 0.69211822660099 | 375 | 1218 | 67465152-67465348, 67465360-67465367, 67465372, 67465377-67465382, 67465385-67465387, 67465396-67465402, 67469971-67470045, 67470225-67470234, 67470254-67470261, 67470272-67470281, 67470289, 67470501-67470507, 67470510-67470511, 67470515-67470543, 67470677, 67470680-67470681, 67470685-67470689, 67470898, 67470901, 67470905 |
| 442 | LCAT | 16 | 0.94179894179894 | 77 | 1323 | 67973979, 67976473-67976488, 67976874-67976879, 67976975, 67976992, 67976995-67977023, 67977032-67977036, 67977047-67977062, 67977988-67977989 |
| 443 | CDH3 | 16 | 0.97791164658635 | 55 | 2490 | 68679550-68679591, 68679630-68679634, 68732153-68732160 |
| 444 | CDH1 | 16 | 0.98678746696867 | 35 | 2649 | 68771334-68771366, 68772299, 68857470 |
| 445 | COG8 | 16 | 0.89178901576944 | 199 | 1839 | 69364751, 69364761, 69364764-69364772, 69364775, 69364791-69364809, 69364816, 69364830-69364835, 69364841, 69364845-69364853, 69364859-69364864, 69366733, 69368596-69368600, 69373083-69373087, 69373112-69373128, 69373131-69373132, 69373136-69373141, 69373152, 69373160, 69373166-69373193, 69373207, 69373212, 69373217-69373221, 69373227-69373249, 69373257, 69373262, 69373265-69373266, 69373269, 69373272-69373278, 69373306-69373339, 69373406, 69373411, 69373414 |
| 446 | AARS | 16 | 0.99931200550396 | 2 | 2907 | 70303656, 70303660 |
| 447 | HP | 16 | 0.98525798525799 | 18 | 1221 | 72091295, 72091307-72091308, 72091311, 72092166-72092179 |
| 448 | GCSH | 16 | 0.79501915708812 | 107 | 522 | 81129740-81129742, 81129747, 81129751, 81129757-81129767, 81129773-81129774, 81129776-81129778, 81129796-81129797, 81129800-81129883 |
| 449 | GAN | 16 | 0.90078037904125 | 178 | 1794 | 81348719-81348885, 81388115-81388116, 81388219-81388220, 81388228-81388232, 81388259-81388260 |
| 450 | MLYCD | 16 | 0.6774628879892 | 478 | 1482 | 83932750-83933225, 83933244, 83933247 |
| 451 | LRRC50 | 16 | 0.96786042240588 | 70 | 2178 | 84179067, 84179080-84179115, 84179142-84179169, 84199430-84199431, 84199434, 84199442-84199443 |
| 452 | FOXF1 | 16 | 0.66666666666667 | 380 | 1140 | 86544176-86544263, 86544280, 86544290-86544291, 86544390, 86544395-86544396, 86544416-86544419, 86544489-86544494, 86544498, 86544502-86544527, 86544559-86544565, 86544572-86544611, 86544619, 86544622-86544623, 86544626, 86544647-86544648, 86544675, 86544683-86544685, 86544696-86544706, 86544735-86544738, 86544747-86544748, 86544792, 86544854-86544891, 86544908-86544958, 86544964-86544994, 86545012-86545049, 86545081-86545096 |
| 453 | FOXC2 | 16 | 0.5066401062417 | 743 | 1506 | 86601063, 86601066-86601071, 86601076-86601079, 86601081, 86601089-86601091, 86601102-86601107, 86601114-86601136, 86601142, 86601149, 86601315-86601348, 86601438-86601451, 86601462-86601470, 86601509, 86601521-86601527, 86601535, 86601545-86601546, 86601562, 86601565, 86601591-86601607, 86601617-86601624, 86601638, 86601641-86601662, 86601672, 86601680, 86601697-86602204, 86602272-86602280, 86602288, 86602292-86602293, 86602343-86602378, 86602412-86602432 |
| 454 | JPH3 | 16 | 0.75567423230975 | 549 | 2247 | 87636799-87636835, 87636852-87636893, 87636911, 87636926-87636928, 87637115-87637120, 87678012-87678037, 87678132-87678139, 87678290, 87678293-87678300, 87678588-87678589, 87678592-87678594, 87723255-87723303, 87723324-87723370, 87723375, 87723381-87723383, 87723390, 87723395-87723402, 87723418-87723464, 87723467-87723472, 87723483-87723493, 87723496-87723498, 87723503-87723510, 87723523, 87723527, 87723535-87723598, 87723614-87723618, 87723658-87723690, 87723696-87723770, 87723918, 87723968-87724015 |
| 455 | CYBA | 16 | 0.67176870748299 | 193 | 588 | 88709772-88709777, 88709785-88709787, 88709798-88709801, 88709810, 88709814-88709816, 88709820-88709829, 88709837, 88709840, 88709852-88709853, 88709862-88709979, 88712567-88712585, 88717374-88717390, 88717394, 88717400-88717406 |
| 456 | APRT | 16 | 0.85451197053407 | 79 | 543 | 88877980, 88877983-88877984, 88878009-88878021, 88878232-88878246, 88878254-88878301 |
| 457 | GALNS | 16 | 0.90949649458254 | 142 | 1569 | 88884430-88884441, 88884482, 88884500-88884505, 88889014, 88901640-88901641, 88923166-88923285 |
| 458 | SPG7 | 16 | 0.91331658291457 | 207 | 2388 | 89574826-89575008, 89598353-89598374, 89623484-89623485 |
| 459 | FANCA | 16 | 0.96932234432234 | 134 | 4368 | 89805051, 89813074-89813080, 89836321-89836325, 89836328, 89836347-89836352, 89836361-89836363, 89839757-89839761, 89842163-89842173, 89842180-89842193, 89842206, 89842214, 89882945-89883023 |
| 460 | TUBB3 | 16 | 0.91648189209165 | 113 | 1353 | 89989810-89989866, 90001286, 90001544, 90001561, 90001702, 90001781-90001819, 90001973, 90002033-90002040, 90002052, 90002066, 90002074, 90002194 |
| 461 | PRPF8 | 17 | 0.99985730593607 | 1 | 7008 | 1587832 |
| 462 | CTNS | 17 | 0.97007481296758 | 36 | 1203 | 3559800-3559801, 3559995-3560028 |
| 463 | CHRNE | 17 | 0.95614035087719 | 65 | 1482 | 4802367-4802385, 4802574-4802610, 4802634, 4802667, 4802670-4802672, 4806340, 4806347-4806349 |
| 464 | GP1BA | 17 | 0.95885416666667 | 79 | 1920 | 4835900-4835909, 4835915, 4835928-4835932, 4835939-4835940, 4835943, 4835946, 4836235-4836243, 4837169-4837172, 4837213-4837230, 4837243, 4837253-4837260, 4837456, 4837461, 4837469, 4837474, 4837548, 4837551, 4837554, 4837737-4837744, 4837779-4837780, 4837785, 4837791 |
| 465 | ENO3 | 17 | 0.99770114942529 | 3 | 1305 | 4858702, 4858705-4858706 |
| 466 | AIPL1 | 17 | 0.9991341991342 | 1 | 1155 | 6329060 |
| 467 | PITPNM3 | 17 | 0.92376068376068 | 223 | 2925 | 6358658-6358682, 6358700-6358728, 6358731-6358742, 6358757, 6358763-6358767, 6358778-6358786, 6358789, 6358807-6358864, 6358869-6358879, 6358882-6358883, 6358890, 6358893, 6358908-6358950, 6380483, 6381302-6381303, 6459705-6459726 |
| 468 | ACADVL | 17 | 0.97357723577236 | 52 | 1968 | 7123304-7123323, 7123331-7123348, 7123455-7123458, 7127804-7127812, 7127817 |
| 469 | CHRNB1 | 17 | 0.99269588313413 | 11 | 1506 | 7348491-7348501 |
| 470 | TP53 | 17 | 0.99915397631134 | 1 | 1182 | 7579472 |
| 471 | GUCY2D | 17 | 0.8143115942029 | 615 | 3312 | 7906366-7906809, 7906820-7906845, 7906866-7906916, 7906947-7906962, 7906986-7906987, 7907000-7907001, 7907046, 7907055, 7907170-7907183, 7907195, 7907204, 7907278-7907326, 7915527, 7915539, 7919608, 7919806-7919809 |
| 472 | ALOX12B | 17 | 0.98860398860399 | 24 | 2106 | 7976497, 7976500, 7976510, 7976513, 7976520-7976521, 7976622, 7982714-7982723, 7982773, 7984290-7984294, 7984481 |
| 473 | ALOXE3 | 17 | 0.95131086142322 | 104 | 2136 | 8013240-8013297, 8013434, 8013581-8013591, 8013713-8013714, 8013717, 8013726, 8013730-8013731, 8013739, 8013742-8013751, 8013758-8013766, 8013770-8013777 |
| 474 | HES7 | 17 | 0.17994100294985 | 556 | 678 | 8024889-8025340, 8025661-8025744, 8026374-8026383, 8026407-8026410, 8026416-8026421 |
| 475 | MYH8 | 17 | 0.99122807017544 | 51 | 5814 | 10293855, 10293860, 10300288, 10301911-10301931, 10301943-10301945, 10302129-10302134, 10302142-10302144, 10302147-10302161 |
| 476 | MYH2 | 17 | 0.99828355647099 | 10 | 5826 | 10426878, 10429104, 10431092-10431099 |
| 477 | MYH3 | 17 | 0.99536321483771 | 27 | 5823 | 10534928, 10541419-10541439, 10541639, 10549246-10549249 |
| 478 | SCO1 | 17 | 0.98454746136865 | 14 | 906 | 10600687, 10600692, 10600697-10600701, 10600711-10600717 |
| 479 | ELAC2 | 17 | 0.97581620314389 | 60 | 2481 | 12896189-12896194, 12899037-12899038, 12899916-12899932, 12899966, 12921147, 12921150, 12921153-12921161, 12921167, 12921170-12921172, 12921174-12921175, 12921183, 12921233-12921248 |
| 480 | COX10 | 17 | 0.99249249249249 | 10 | 1332 | 14095306-14095312, 14110514-14110516 |
| 481 | PMP22 | 17 | 0.92339544513458 | 37 | 483 | 15163967-15163973, 15163987-15164016 |
| 482 | TNFRSF13B | 17 | 0.99886621315193 | 1 | 882 | 16852281 |
| 483 | FLCN | 17 | 0.99195402298851 | 14 | 1740 | 17118579, 17118589, 17118597, 17118601-17118604, 17125860-17125866 |
| 484 | RAI1 | 17 | 0.93987065198392 | 344 | 5721 | 17696313, 17696351, 17696376-17696424, 17696451-17696459, 17696472-17696481, 17696544, 17696712-17696713, 17696731-17696737, 17696755, 17696786-17696820, 17696971, 17697037, 17697040-17697041, 17697099, 17697113-17697137, 17697139-17697141, 17697148, 17697232, 17697374-17697421, 17697499, 17697502-17697503, 17697617, 17697629, 17697735-17697736, 17697874, 17698064, 17698790-17698797, 17698812-17698814, 17698821-17698824, 17698828-17698829, 17698834-17698835, 17698838-17698846, 17698854-17698886, 17699197-17699200, 17699390-17699391, 17699395, 17699522-17699529, 17699548-17699551, 17699554-17699555, 17699620, 17699667, 17699673, 17699983-17699988, 17699993-17699995, 17700003-17700006, 17700014, 17700645-17700650, 17700798-17700799, 17700941-17700944, 17700948-17700956, 17701278, 17701529-17701530, 17701533, 17701538-17701547, 17701550, 17701554 |
| 485 | ATPAF2 | 17 | 0.99655172413793 | 3 | 870 | 17942302, 17942309-17942310 |
| 486 | MYO15A | 17 | 0.88718965354479 | 1195 | 10593 | 18022467-18022485, 18022594, 18022598-18022600, 18022677-18022681, 18023480-18023486, 18023725, 18023728-18023733, 18023736, 18023743-18023750, 18023756, 18023759-18023766, 18023782-18023785, 18023805-18023808, 18023830, 18023833-18023839, 18023863, 18023877-18023917, 18023990-18024690, 18024711-18024714, 18024724-18024750, 18024765-18024803, 18024809-18024820, 18024844-18024845, 18024860, 18024879-18024885, 18024896, 18024902-18024913, 18024920, 18024924-18024939, 18024942, 18025046, 18025062-18025063, 18025067, 18025075, 18025080-18025082, 18035778, 18046880-18046883, 18049343-18049344, 18049355-18049356, 18051432-18051437, 18052633, 18052824, 18054827, 18057096-18057210, 18061088-18061098, 18061110-18061143, 18061152, 18061155-18061166, 18061176-18061181, 18061882, 18062650-18062655, 18070933-18070965, 18070973-18070975, 18071012-18071016 |
| 487 | ALDH3A2 | 17 | 0.99934512115259 | 1 | 1527 | 19552298 |
| 488 | UNC119 | 17 | 0.69571230982019 | 220 | 723 | 26879356-26879575 |
| 489 | NEK8 | 17 | 0.996632996633 | 7 | 2079 | 27067530, 27067876-27067879, 27067966-27067967 |
| 490 | SLC6A4 | 17 | 0.99313259376651 | 13 | 1893 | 28543171, 28543176, 28543192-28543193, 28543198, 28543201-28543207, 28548942 |
| 491 | NF1 | 17 | 0.99201877934272 | 68 | 8520 | 29422328-29422387, 29553499-29553500, 29559091, 29586146-29586147, 29654543-29654544, 29679314 |
| 492 | PEX12 | 17 | 0.9962962962963 | 4 | 1080 | 33904918-33904921 |
| 493 | HNF1B | 17 | 0.9647550776583 | 59 | 1674 | 36061028, 36061031-36061032, 36061037-36061058, 36061064, 36104658, 36104711, 36104722, 36104759, 36104764, 36104767, 36104811, 36104817-36104834, 36104843, 36104845-36104851 |
| 494 | TCAP | 17 | 0.94246031746032 | 29 | 504 | 37822032, 37822036-37822047, 37822050-37822053, 37822092, 37822121, 37822138-37822143, 37822166, 37822210-37822212 |
| 495 | KRT10 | 17 | 0.83019943019943 | 298 | 1755 | 38975089-38975372, 38975384-38975390, 38975395-38975400, 38978775 |
| 496 | KRT13 | 17 | 0.99419026870007 | 8 | 1377 | 39658746-39658749, 39658760-39658763 |
| 497 | KRT9 | 17 | 0.99626068376068 | 7 | 1872 | 39728071-39728077 |
| 498 | KRT14 | 17 | 0.97181113460183 | 40 | 1419 | 39739499, 39739595-39739619, 39742623-39742626, 39742856, 39742963-39742964, 39743001-39743007 |
| 499 | KRT16 | 17 | 0.95147679324895 | 69 | 1422 | 39766187-39766190, 39766265-39766281, 39768424-39768430, 39768490-39768496, 39768714-39768746, 39768848 |
| 500 | KRT17 | 17 | 0.88375673595073 | 151 | 1299 | 39776932-39776933, 39776957-39776962, 39776969-39776970, 39776982-39776983, 39776991-39776995, 39777014-39777018, 39780373-39780420, 39780508-39780555, 39780608-39780627, 39780749-39780761 |
| 501 | JUP | 17 | 0.98614834673816 | 31 | 2238 | 39915038-39915058, 39919242, 39925358-39925359, 39925363, 39925381-39925382, 39925716, 39925719, 39925839, 39928012 |
| 502 | FKBP10 | 17 | 0.99542595769011 | 8 | 1749 | 39969296-39969300, 39974696-39974697, 39975483 |
| 503 | STAT5B | 17 | 0.96489001692047 | 83 | 2364 | 40370268-40370290, 40371384, 40371433-40371471, 40371740-40371746, 40371799-40371809, 40384121, 40384125 |
| 504 | STAT3 | 17 | 0.99654128837008 | 8 | 2313 | 40474335, 40474356-40474359, 40489798, 40489822, 40491372 |
| 505 | NAGLU | 17 | 0.87679211469534 | 275 | 2232 | 40688292-40688311, 40688316-40688319, 40688331-40688560, 40688610-40688618, 40688639, 40695544, 40695547-40695548, 40695645-40695648, 40695651, 40695656-40695658 |
| 506 | WNK4 | 17 | 0.96650589496249 | 125 | 3732 | 40932737-40932754, 40932762, 40932781-40932783, 40932786-40932791, 40932807, 40932812-40932817, 40932820, 40932823-40932828, 40932830-40932849, 40932853-40932856, 40932878-40932890, 40932910, 40932913-40932919, 40933082-40933088, 40937364-40937372, 40937377-40937395, 40947520, 40947524, 40947531 |
| 507 | BRCA1 | 17 | 0.99982316534041 | 1 | 5655 | 41223194 |
| 508 | SOST | 17 | 0.74922118380062 | 161 | 642 | 41832751, 41832754, 41832757-41832767, 41832772-41832773, 41832776-41832827, 41832831-41832840, 41832850, 41832856-41832873, 41832880, 41832883-41832890, 41832894-41832900, 41832906, 41832914-41832922, 41832924-41832930, 41832932-41832935, 41832954-41832966, 41833026, 41833030, 41833058-41833066, 41833114-41833117 |
| 509 | NAGS | 17 | 0.87663551401869 | 198 | 1605 | 42082032-42082039, 42082042-42082043, 42082061-42082064, 42082068-42082072, 42082088, 42082093, 42082110-42082174, 42082185-42082191, 42082198-42082243, 42082257, 42082320-42082322, 42083211, 42083213-42083214, 42083217, 42083220-42083221, 42083240, 42083250, 42083259, 42083400, 42083409, 42083412, 42083482, 42083492, 42083523-42083533, 42083582-42083594, 42083986-42083988, 42083992, 42083999, 42084002-42084008, 42084024-42084026, 42084029, 42084786 |
| 510 | SLC4A1 | 17 | 0.99013157894737 | 27 | 2736 | 42334899-42334907, 42335090-42335096, 42335106, 42335110-42335115, 42335122, 42336682-42336684 |
| 511 | GRN | 17 | 0.88271604938272 | 209 | 1782 | 42426567-42426569, 42427070-42427071, 42427829-42427832, 42427843, 42427847-42427850, 42428097-42428098, 42428794, 42428798, 42429118-42429122, 42429133-42429140, 42429144, 42429385-42429426, 42429564, 42429572-42429578, 42429582, 42429717-42429748, 42429799, 42429890-42429907, 42429916-42429939, 42430046-42430095, 42430115 |
| 512 | ITGA2B | 17 | 0.96057692307692 | 123 | 3120 | 42452038, 42452042-42452055, 42452366-42452391, 42452407-42452425, 42452433-42452464, 42453705-42453711, 42457494, 42463206-42463228 |
| 513 | GFAP | 17 | 0.95458044649731 | 59 | 1299 | 42988604-42988613, 42989125, 42989129, 42992469-42992506, 42992516-42992520, 42992523, 42992536, 42992543-42992544 |
| 514 | PLEKHM1 | 17 | 0.99022390413119 | 31 | 3171 | 43531275-43531279, 43531299, 43531328-43531340, 43552520, 43552536-43552537, 43552713-43552720, 43555449 |
| 515 | MAPT | 17 | 0.99313599313599 | 16 | 2331 | 44055785-44055790, 44060705-44060711, 44060917, 44061163, 44061173 |
| 516 | WNT3 | 17 | 0.95318352059925 | 50 | 1068 | 44847254-44847258, 44847403-44847405, 44851087, 44851093-44851097, 44851111-44851114, 44851125-44851129, 44851170, 44851197-44851220, 44851261, 44895928 |
| 517 | ITGB3 | 17 | 0.97169412758766 | 67 | 2367 | 45331228-45331293, 45369796 |
| 518 | PNPO | 17 | 0.98091603053435 | 15 | 786 | 46019054-46019064, 46019075-46019078 |
| 519 | SGCA | 17 | 0.99914089347079 | 1 | 1164 | 48247698 |
| 520 | COL1A1 | 17 | 0.97246871444824 | 121 | 4395 | 48263204-48263217, 48265936-48265939, 48265947-48265954, 48267058, 48267941, 48271712, 48271777-48271782, 48272623, 48272626-48272630, 48272644, 48276596, 48276628-48276629, 48276645, 48276664, 48276779-48276814, 48276917-48276941, 48276947-48276951, 48277146, 48278824-48278830 |
| 521 | NOG | 17 | 0.44635193133047 | 387 | 699 | 54671585-54671934, 54672045-54672056, 54672089, 54672092-54672095, 54672127, 54672202-54672205, 54672208-54672210, 54672215-54672224, 54672230-54672231 |
| 522 | MKS1 | 17 | 0.99940476190476 | 1 | 1680 | 56292120 |
| 523 | TRIM37 | 17 | 0.98756476683938 | 36 | 2895 | 57089704-57089708, 57105920-57105927, 57105932, 57105935, 57119210, 57119213, 57134314, 57158519, 57158522-57158525, 57165660-57165671, 57168696 |
| 524 | AP1S2 | 17 | 0.95192307692308 | 30 | 624 | 58179773, 58180030, 58180035-58180038, 58180052-58180053, 58180058-58180062, 58180065-58180067, 58180078-58180079, 58180102-58180113 |
| 525 | CA4 | 17 | 0.92864749733759 | 67 | 939 | 58227396-58227414, 58227426-58227427, 58227432-58227434, 58236667-58236668, 58236671-58236674, 58236677-58236688, 58236691, 58236694-58236696, 58236699-58236700, 58236703-58236717, 58236737-58236740 |
| 526 | TBX4 | 17 | 0.94261294261294 | 94 | 1638 | 59533889-59533902, 59533911-59533922, 59533926, 59533941-59533965, 59533973, 59533988-59533993, 59534003-59534037 |
| 527 | BRIP1 | 17 | 0.99093333333333 | 34 | 3750 | 59763488-59763505, 59821927-59821930, 59821934, 59853837, 59878826-59878835 |
| 528 | ACE | 17 | 0.90155572558021 | 386 | 3921 | 61554456-61554704, 61555456-61555459, 61559936, 61561819-61561822, 61566151, 61570954-61570955, 61574527-61574596, 61574605-61574621, 61574641-61574657, 61574668-61574680, 61574691-61574696, 61574700, 61574703 |
| 529 | TACO1 | 17 | 0.9675615212528 | 29 | 894 | 61678462-61678488, 61678579, 61678598 |
| 530 | SCN4A | 17 | 0.98911268372346 | 60 | 5511 | 62019224, 62019227-62019228, 62019254-62019265, 62019271, 62020186-62020191, 62022151-62022153, 62025328, 62026111, 62038554, 62038740-62038742, 62038752, 62038756, 62038762, 62038765-62038770, 62038777-62038783, 62038788, 62041046-62041048, 62041051-62041059 |
| 531 | AXIN2 | 17 | 0.93364928909953 | 168 | 2532 | 63532487-63532495, 63533095-63533111, 63533120-63533128, 63533136, 63533141, 63533155, 63533510-63533521, 63533527-63533533, 63533562, 63533673, 63533676-63533697, 63533768, 63533785, 63533789, 63533801, 63533812-63533814, 63533888-63533937, 63534336-63534362, 63545644-63545645, 63545648 |
| 532 | SOX9 | 17 | 0.79477124183007 | 314 | 1530 | 70117621-70117637, 70117815-70117861, 70118867, 70118879-70118882, 70119736-70119741, 70119747-70119748, 70119765, 70119777, 70119800-70119804, 70119816-70119819, 70119823, 70119861, 70119864, 70119930, 70119936, 70119955-70120166, 70120221, 70120224-70120225, 70120231-70120235, 70120365 |
| 533 | COG1 | 17 | 0.89874277947672 | 298 | 2943 | 71189209-71189453, 71189469-71189501, 71189523, 71199250-71199260, 71199263-71199264, 71199267-71199272 |
| 534 | DNAI2 | 17 | 0.97964796479648 | 37 | 1818 | 72301421, 72306210-72306245 |
| 535 | USH1G | 17 | 0.98412698412698 | 22 | 1386 | 72915566, 72915569-72915574, 72915751, 72916132, 72916188, 72916488, 72916493-72916496, 72919009-72919014, 72919059 |
| 536 | TSEN54 | 17 | 0.80518659076534 | 308 | 1581 | 73512642-73512697, 73512827-73512987, 73513091, 73513105, 73513110, 73513128-73513131, 73517922-73517936, 73517968-73517990, 73518146-73518169, 73518284, 73518287-73518289, 73518294, 73518341-73518352, 73518355-73518358, 73518414 |
| 537 | ITGB4 | 17 | 0.93161455476321 | 374 | 5469 | 73723520, 73723531, 73723781-73723786, 73726411, 73726976, 73726986-73726988, 73733414-73733415, 73733715-73733725, 73738457, 73738705-73738731, 73738738-73738816, 73744942, 73749866-73750055, 73750744-73750759, 73751782-73751806, 73752862, 73753025, 73753051-73753054, 73753064-73753065, 73753089 |
| 538 | GALK1 | 17 | 0.83545377438507 | 194 | 1179 | 73754326, 73754586-73754632, 73759181-73759189, 73759207-73759230, 73761055, 73761058, 73761107-73761217 |
| 539 | UNC13D | 17 | 0.95814237702414 | 137 | 3273 | 73824146-73824153, 73825045-73825049, 73825051-73825052, 73826463-73826466, 73826490, 73826714, 73826730, 73827382-73827390, 73831104, 73831504-73831507, 73831606-73831607, 73831977-73831980, 73831987, 73832172, 73832281-73832289, 73832505-73832507, 73832737, 73832749-73832757, 73832965-73832967, 73832974-73832992, 73836101-73836104, 73839111-73839147, 73839259-73839264, 73839268, 73840387 |
| 540 | ACOX1 | 17 | 0.99697428139183 | 6 | 1983 | 73956430-73956435 |
| 541 | SEPT9 | 17 | 0.9068710959682 | 164 | 1761 | 75398344-75398347, 75398369-75398373, 75398432, 75398753, 75484855-75484871, 75494605-75494740 |
| 542 | GAA | 17 | 0.98216159496327 | 51 | 2859 | 78078555, 78078559, 78078562-78078574, 78078709, 78078718-78078719, 78081599-78081605, 78083768, 78086446, 78086675-78086691, 78090853, 78092027-78092030, 78092035, 78092039 |
| 543 | SGSH | 17 | 0.9635520212061 | 55 | 1509 | 78185946-78185947, 78194026, 78194036, 78194046-78194083, 78194086-78194088, 78194092-78194100, 78194103 |
| 544 | ACTG1 | 17 | 0.99202127659574 | 9 | 1128 | 79477716, 79478301, 79478502-79478504, 79478509-79478511, 79479343 |
| 545 | FSCN2 | 17 | 0.80054090601758 | 295 | 1479 | 79495720-79495761, 79495776, 79495784, 79495840, 79495877, 79495890, 79495902, 79495912, 79495995-79496010, 79496192-79496198, 79496226-79496231, 79496237-79496239, 79496362, 79496367, 79496373, 79503194, 79503648-79503654, 79503660, 79503702-79503704, 79503788, 79503792-79503795, 79503901-79504093, 79504104 |
| 546 | LPIN2 | 18 | 0.99851356373096 | 4 | 2691 | 2939537-2939540 |
| 547 | TGIF1 | 18 | 0.98175787728027 | 22 | 1206 | 3452215, 3452223, 3452248-3452267 |
| 548 | NDUFV2 | 18 | 0.96 | 30 | 750 | 9102746-9102772, 9102794-9102795, 9119528 |
| 549 | AFG3L2 | 18 | 0.95196324143693 | 115 | 2394 | 12358877, 12376968-12377081 |
| 550 | NPC1 | 18 | 0.99113891060725 | 34 | 3837 | 21123438-21123439, 21123477-21123478, 21166278-21166307 |
| 551 | LAMA3 | 18 | 0.98440311937612 | 156 | 10002 | 21269648-21269776, 21269828-21269830, 21269861-21269872, 21269879, 21269886, 21269891, 21269907-21269909, 21269920, 21338410, 21422483, 21426420, 21483937-21483938 |
| 552 | DSC3 | 18 | 0.97881828316611 | 57 | 2691 | 28574191, 28574194, 28574263-28574264, 28622561-28622562, 28622567-28622568, 28622571, 28622579-28622626 |
| 553 | DSC2 | 18 | 0.97450110864745 | 69 | 2706 | 28681866-28681934 |
| 554 | DSG2 | 18 | 0.98659517426273 | 45 | 3357 | 29078215-29078257, 29121165, 29122746 |
| 555 | LOXHD1 | 18 | 0.95675105485232 | 287 | 6636 | 44057589, 44104530-44104536, 44104553, 44121894, 44126858-44127021, 44140061, 44140065-44140070, 44140086, 44140215, 44140219, 44140230-44140236, 44140267-44140276, 44140280-44140283, 44140287-44140345, 44140367-44140373, 44140390, 44140396-44140409, 44140413 |
| 556 | MYO5B | 18 | 0.99675500270416 | 18 | 5547 | 47373571, 47373574-47373575, 47373580, 47390526-47390530, 47500835-47500836, 47721144-47721147, 47721150, 47721156, 47721163 |
| 557 | SMAD4 | 18 | 0.98673899939723 | 22 | 1659 | 48593462-48593472, 48603065-48603073, 48603076, 48603108 |
| 558 | TCF4 | 18 | 0.99007936507937 | 20 | 2016 | 52901881-52901888, 52942973, 53254311-53254321 |
| 559 | FECH | 18 | 0.92093023255814 | 102 | 1290 | 55247348-55247382, 55253786-55253852 |
| 560 | ATP8B1 | 18 | 0.97470713525027 | 95 | 3756 | 55315749-55315752, 55315756-55315781, 55315784-55315785, 55315828-55315834, 55315844-55315883, 55328520-55328529, 55328544, 55328553-55328557 |
| 561 | RAX | 18 | 0.59269932756964 | 424 | 1041 | 56936249, 56936252, 56936256, 56936291-56936307, 56936324, 56936341-56936345, 56936367-56936420, 56936431-56936620, 56939809, 56940152-56940190, 56940199-56940220, 56940224-56940231, 56940237-56940288, 56940295-56940303, 56940310-56940312, 56940343-56940353, 56940359-56940360, 56940366, 56940400-56940403, 56940406, 56940409 |
| 562 | LMAN1 | 18 | 0.98695368558382 | 20 | 1533 | 57026419-57026421, 57026424-57026440 |
| 563 | CCBE1 | 18 | 0.95331695331695 | 57 | 1221 | 57134034-57134065, 57134098-57134103, 57364508, 57364530-57364535, 57364541, 57364552-57364559, 57364566-57364568 |
| 564 | TNFRSF11A | 18 | 0.90005402485143 | 185 | 1851 | 59992586-59992660, 60021744-60021751, 60021754, 60051984-60052002, 60052038-60052039, 60052043-60052044, 60052064-60052067, 60052079-60052083, 60052093-60052101, 60052141-60052146, 60052149, 60052152-60052154, 60052161, 60052167-60052177, 60052187-60052192, 60052207, 60052212-60052224, 60052227, 60052231-60052239, 60052255, 60052259-60052265 |
| 565 | CTDP1 | 18 | 0.87699237699238 | 355 | 2886 | 77439948-77440261, 77456018, 77456023-77456028, 77457975, 77474629, 77474640-77474642, 77474776-77474784, 77475020, 77475023-77475024, 77478007-77478016, 77513708, 77513721-77513722, 77513735, 77513739-77513741 |
| 566 | ELANE | 19 | 0.68283582089552 | 255 | 804 | 852877-852910, 852928-852969, 853015-853032, 853262-853403, 856146-856164 |
| 567 | KISS1R | 19 | 0.39181286549708 | 728 | 1197 | 917503-917505, 917534, 917541-917561, 917573-917582, 917586, 917588-917660, 917665-917674, 917684-917686, 917713-917723, 917730-917746, 918544-918550, 918554, 918560-918567, 918572-918573, 918584-918606, 918609-918613, 918619, 918630-918633, 918647-918668, 919490-919491, 919894-919934, 919956-920003, 920013-920055, 920063-920106, 920290-920473, 920485-920534, 920556-920563, 920569-920578, 920580-920583, 920586-920604, 920615-920617, 920624, 920627-920632, 920638-920649, 920674-920676, 920679-920680, 920684, 920704-920705, 920711-920717, 920724, 920727-920740 |
| 568 | STK11 | 19 | 0.95391705069124 | 60 | 1302 | 1219392-1219394, 1219411-1219412, 1220395, 1220412-1220416, 1220427, 1221323, 1226582-1226614, 1226620-1226622, 1226624, 1226629-1226636, 1226645-1226646 |
| 569 | NDUFS7 | 19 | 0.96105919003115 | 25 | 642 | 1387842-1387846, 1388541, 1388571-1388574, 1388577-1388578, 1388581, 1390903, 1391146-1391147, 1395398, 1395401, 1395404, 1395482-1395487 |
| 570 | GAMT | 19 | 0.85185185185185 | 120 | 810 | 1398815, 1401301-1401332, 1401373-1401381, 1401398-1401475 |
| 571 | RAX2 | 19 | 0.76576576576577 | 130 | 555 | 3770619-3770638, 3770642-3770652, 3770663-3770668, 3770685-3770714, 3770724-3770730, 3770733, 3770747-3770784, 3770790-3770791, 3770796-3770799, 3770802-3770808, 3770912, 3770919, 3770922, 3770926 |
| 572 | MAP2K2 | 19 | 0.91853699085619 | 98 | 1203 | 4090598, 4099200, 4099206, 4102377-4102379, 4123781-4123872 |
| 573 | NDUFA11 | 19 | 0.99765258215962 | 1 | 426 | 5896999 |
| 574 | TUBB4 | 19 | 0.94082397003745 | 79 | 1335 | 6495419-6495437, 6495459-6495460, 6495489, 6495495, 6495502, 6495562-6495572, 6495577, 6495587-6495591, 6495594, 6495601, 6495629-6495636, 6495646, 6495654-6495661, 6495668-6495682, 6502199-6502201, 6502207 |
| 575 | C3 | 19 | 0.97255608974359 | 137 | 4992 | 6693487, 6707087-6707119, 6707122-6707124, 6707127, 6707172-6707178, 6707201-6707208, 6707212, 6707229-6707238, 6707242, 6707257, 6707260, 6707265, 6707282-6707284, 6707502-6707512, 6707534, 6707811-6707832, 6709698, 6709774-6709776, 6713519-6713520, 6718361-6718362, 6718373-6718378, 6719222, 6720556-6720558, 6720568-6720573, 6720580-6720587 |
| 576 | INSR | 19 | 0.98168233309231 | 76 | 4149 | 7142840, 7166280, 7168049, 7293803-7293804, 7293809, 7293815-7293820, 7293825-7293826, 7293841-7293902 |
| 577 | MCOLN1 | 19 | 0.98795180722892 | 21 | 1743 | 7587659, 7587662-7587667, 7589876, 7593571-7593575, 7594518, 7595263-7595268, 7598418 |
| 578 | PNPLA6 | 19 | 0.96084337349398 | 156 | 3984 | 7605853, 7606526-7606527, 7606546, 7615880-7615881, 7615897-7615904, 7615915-7615920, 7615925-7615969, 7616293-7616299, 7616309, 7619119-7619121, 7619578-7619584, 7619853, 7619856, 7620167-7620176, 7620179-7620180, 7620184-7620188, 7620198, 7620240, 7620595-7620620, 7622062-7622065, 7622122-7622128, 7623817-7623820, 7623833-7623840, 7623845, 7626159, 7626176 |
| 579 | STXBP2 | 19 | 0.94163860830528 | 104 | 1782 | 7702037, 7702042-7702048, 7703949-7703960, 7706645, 7706649-7706658, 7706677-7706685, 7706949, 7706952, 7706963, 7706967, 7706970, 7706978, 7706995, 7706999, 7707089-7707113, 7707117-7707119, 7707365-7707371, 7707390-7707399, 7707917-7707919, 7707922-7707924, 7708075, 7711153, 7711156, 7711160, 7712294 |
| 580 | ADAMTS10 | 19 | 0.90609903381643 | 311 | 3312 | 8645785-8645786, 8649870-8649871, 8649875-8649878, 8649888-8649938, 8650016-8650030, 8650054-8650114, 8650131-8650142, 8650178, 8650181-8650182, 8650396, 8650437-8650447, 8650458-8650505, 8651552, 8651576-8651577, 8654170-8654174, 8654213, 8654229-8654233, 8654378-8654410, 8654431-8654469, 8656886, 8660714-8660716, 8669930-8669931, 8669936, 8669962-8669965, 8669975, 8670006, 8670021-8670022 |
| 581 | TYK2 | 19 | 0.94837261503928 | 184 | 3564 | 10463110-10463128, 10463146-10463154, 10463624-10463627, 10463644-10463645, 10463653, 10463660, 10463663, 10463710, 10463726-10463774, 10464212-10464220, 10464232, 10464241, 10464244-10464257, 10468451-10468453, 10468457-10468459, 10472584, 10472607-10472609, 10473041-10473043, 10475330-10475349, 10475695, 10476277-10476279, 10476289, 10476365-10476368, 10476377-10476382, 10489017-10489023, 10489032-10489048 |
| 582 | DNM2 | 19 | 0.93417527745886 | 172 | 2613 | 10828919-10829079, 10939940, 10940866, 10940902-10940910 |
| 583 | LDLR | 19 | 0.99380565234224 | 16 | 2583 | 11200225-11200234, 11200272, 11200275-11200276, 11222215, 11224235, 11233941 |
| 584 | PRKCSH | 19 | 0.97038437303088 | 47 | 1587 | 11557127-11557130, 11557133-11557134, 11557139-11557144, 11557152-11557165, 11558341-11558346, 11558352-11558353, 11558359-11558367, 11558512-11558514, 11558519 |
| 585 | MAN2B1 | 19 | 0.95092226613966 | 149 | 3036 | 12758062, 12758088-12758091, 12758329-12758330, 12758342-12758351, 12758363-12758364, 12758369-12758391, 12758396-12758397, 12758399-12758405, 12759003-12759005, 12759022, 12759025-12759026, 12759087-12759099, 12759144, 12760233-12760242, 12760787-12760788, 12767784, 12767842-12767844, 12767850-12767853, 12767867-12767870, 12768269, 12768272-12768279, 12768288-12768303, 12768941, 12775799, 12777427-12777446, 12777453-12777459 |
| 586 | RNASEH2A | 19 | 0.99888888888889 | 1 | 900 | 12917609 |
| 587 | GCDH | 19 | 0.99392558845862 | 8 | 1317 | 13002139-13002143, 13002154, 13002157-13002158 |
| 588 | CACNA1A | 19 | 0.78380534503391 | 1626 | 7521 | 13318127-13318867, 13319570-13319648, 13319654-13319658, 13319684-13319689, 13319693, 13319703, 13319716-13319718, 13325355-13325392, 13409409-13409432, 13409455-13409738, 13409747-13409788, 13409807-13409910, 13409926, 13410015-13410016, 13441080-13441081, 13616746-13617038 |
| 589 | NOTCH3 | 19 | 0.86721217341372 | 925 | 6966 | 15271568-15271601, 15271660-15271695, 15271870-15271913, 15271978-15271981, 15271984-15271988, 15272007, 15272039-15272048, 15272068-15272071, 15272096-15272118, 15272172-15272176, 15272179, 15272191-15272257, 15272369, 15272469-15272477, 15272499, 15276684-15276689, 15280914-15280922, 15281154-15281201, 15281220-15281265, 15281318-15281320, 15281324-15281341, 15281348-15281358, 15281487-15281501, 15285052, 15285056-15285059, 15285071, 15285083-15285093, 15288352-15288353, 15288415, 15288418, 15288485, 15288523-15288529, 15288546-15288901, 15295731-15295737, 15296130, 15296139-15296141, 15296156, 15296163, 15298797, 15299818, 15300136, 15302556-15302558, 15303047-15303049, 15303073, 15311601-15311716 |
| 590 | CYP4F22 | 19 | 0.99937343358396 | 1 | 1596 | 15651463 |
| 591 | JAK3 | 19 | 0.936 | 216 | 3375 | 17940924-17940926, 17940935-17940957, 17940963, 17940966-17940967, 17941020-17941023, 17941025, 17941312, 17941331-17941333, 17941344-17941397, 17942208-17942209, 17942588-17942597, 17945463-17945464, 17945476-17945481, 17945486-17945488, 17945491-17945496, 17953143-17953187, 17953200-17953211, 17953232-17953233, 17953241, 17953256-17953259, 17953301, 17953307-17953317, 17953321, 17953328-17953333, 17953356, 17953846, 17953852-17953854, 17954284-17954290 |
| 592 | SLC5A5 | 19 | 0.95548654244306 | 86 | 1932 | 17983250-17983255, 17983292-17983293, 17983298-17983300, 17983345, 17984949-17984959, 17984976-17984977, 17984987-17984989, 17984991-17984998, 17985002-17985005, 17986859-17986861, 17994518-17994529, 17994659-17994682, 17994704-17994707, 17999218-17999220 |
| 593 | IL12RB1 | 19 | 0.99547511312217 | 9 | 1989 | 18177453, 18177456-18177457, 18177472, 18179322, 18179328, 18179334, 18183070, 18197572 |
| 594 | COMP | 19 | 0.77396657871592 | 514 | 2274 | 18896483-18896491, 18896496-18896499, 18896504-18896505, 18896508, 18896511-18896551, 18896554-18896555, 18896559, 18896562-18896569, 18896574, 18896846-18896848, 18898336-18898339, 18899031-18899073, 18899222-18899264, 18899275-18899306, 18899312-18899317, 18899401-18899422, 18899433-18899440, 18899455, 18899461-18899490, 18899493-18899499, 18899504, 18899510-18899516, 18899527-18899534, 18899648-18899649, 18899692-18899704, 18899982, 18899985-18899986, 18900006, 18900012-18900013, 18900018-18900036, 18900059-18900061, 18900078-18900103, 18900751-18900825, 18900831-18900898, 18900916-18900923, 18901659-18901666, 18901669, 18901691 |
| 595 | CEBPA | 19 | 0.24512534818942 | 813 | 1077 | 33792244, 33792255, 33792353-33792354, 33792364, 33792376, 33792380, 33792451-33792452, 33792464, 33792506-33792529, 33792533-33792545, 33792555-33793320 |
| 596 | SCN1B | 19 | 0.93804213135068 | 50 | 807 | 35521725-35521764, 35524786-35524795 |
| 597 | HAMP | 19 | 0.96862745098039 | 8 | 255 | 35775850-35775857 |
| 598 | MAG | 19 | 0.95215311004785 | 90 | 1881 | 35790494-35790496, 35790500, 35790555-35790560, 35790574, 35790617-35790656, 35790659, 35790737-35790743, 35791081-35791091, 35791103-35791110, 35791116, 35791137-35791142, 35793502-35793506 |
| 599 | PRODH2 | 19 | 0.96585971446307 | 55 | 1611 | 36291007-36291008, 36291013, 36297663-36297664, 36297943, 36297955, 36297966, 36303099-36303105, 36303302-36303303, 36303312-36303338, 36303350-36303355, 36303358-36303362 |
| 600 | NPHS1 | 19 | 0.95679012345679 | 161 | 3726 | 36322655, 36336314, 36336319, 36336326, 36336393-36336397, 36336400-36336413, 36336419-36336420, 36336423, 36336571, 36336577-36336594, 36336601, 36336605-36336609, 36336623, 36336633-36336639, 36336650-36336700, 36336913-36336917, 36337046-36337047, 36337050-36337051, 36337055, 36337059-36337069, 36337093, 36339570, 36339573-36339590, 36339601, 36341971-36341977, 36342285-36342286 |
| 601 | TYROBP | 19 | 0.98525073746313 | 5 | 339 | 36398356, 36398359, 36399112, 36399116, 36399123 |
| 602 | SDHAF1 | 19 | 0.3448275862069 | 228 | 348 | 36486177-36486302, 36486337-36486432, 36486445, 36486448-36486452 |
| 603 | WDR62 | 19 | 0.99081364829396 | 42 | 4572 | 36546023, 36546027-36546029, 36580185-36580191, 36591702, 36592180-36592198, 36595725, 36595864, 36595869-36595876, 36595926 |
| 604 | RYR1 | 19 | 0.9329893497387 | 1013 | 15117 | 38931403-38931445, 38931455-38931495, 38935312-38935315, 38942476, 38943492, 38943497-38943500, 38943642, 38943651-38943653, 38951159, 38956792, 38956803, 38964185, 38964327-38964333, 38964338, 38964354, 38964357, 38976354-38976356, 38976368-38976371, 38976411-38976418, 38976658-38976660, 38976670-38976681, 38976691-38976726, 38976745-38976776, 38980901-38980904, 38985101, 38987505-38987514, 38987524-38987533, 38990415, 38990420-38990421, 38993147-38993151, 38993159-38993217, 38993224-38993265, 38997186, 38997478, 38997481-38997482, 38997487-38997498, 38997501, 38997590, 38998378-38998380, 38998392-38998442, 38998452, 39002725, 39008212, 39008234, 39013668-39013678, 39013697, 39013861, 39013864-39013865, 39019604-39019606, 39037100-39037132, 39037136-39037140, 39037143, 39037163-39037166, 39055717, 39055730-39056185, 39056204-39056215, 39056220, 39056261-39056262, 39056267-39056315, 39056357-39056358, 39056362-39056363, 39056394, 39062751-39062752, 39062858, 39063817-39063818, 39068686 |
| 605 | ACTN4 | 19 | 0.90679824561404 | 255 | 2736 | 39138396, 39138410-39138460, 39138468-39138470, 39138477-39138479, 39138483-39138485, 39138497, 39138502-39138507, 39138510, 39138513-39138547, 39214254, 39214262, 39214340-39214362, 39214596-39214602, 39214606-39214608, 39214632-39214636, 39214658-39214661, 39214676-39214677, 39214683-39214684, 39214695, 39214703, 39214797-39214803, 39214813-39214835, 39214847-39214865, 39214879-39214883, 39214889, 39215081, 39215084-39215085, 39216452-39216458, 39216478-39216509, 39218596, 39219736-39219738 |
| 606 | DLL3 | 19 | 0.73397953688745 | 494 | 1857 | 39989617-39989620, 39989847-39989854, 39989896, 39993459-39993675, 39997720, 39997771-39997780, 39997786-39997796, 39997804-39997889, 39997896, 39997902, 39997908-39997918, 39997935-39997936, 39997942-39997955, 39997966-39997969, 39997977-39998023, 39998055, 39998065-39998067, 39998076-39998120, 39998142-39998160, 39998184-39998191 |
| 607 | PRX | 19 | 0.95827633378933 | 183 | 4386 | 40900672, 40900717, 40900967-40900993, 40901131-40901135, 40901140, 40901304-40901347, 40903412-40903415, 40903419, 40903473, 40909614-40909620, 40909654, 40909675-40909708, 40909714-40909769 |
| 608 | TGFB1 | 19 | 0.84569479965899 | 181 | 1173 | 41836960-41836961, 41837005-41837088, 41837099-41837115, 41854247-41854263, 41854266-41854272, 41858605, 41858665, 41858721, 41858731, 41858751, 41858754, 41858771, 41858868-41858871, 41858876, 41858899-41858940 |
| 609 | BCKDHA | 19 | 0.9813153961136 | 25 | 1338 | 41916551-41916555, 41916561-41916565, 41928240-41928247, 41928905-41928907, 41929070-41929073 |
| 610 | RPS19 | 19 | 0.99771689497717 | 1 | 438 | 42373206 |
| 611 | ATP1A3 | 19 | 0.90918977705275 | 334 | 3678 | 42470785-42470796, 42470810-42470811, 42470950-42470964, 42470996-42471028, 42471035-42471073, 42471095-42471124, 42471181-42471184, 42471191-42471209, 42471298-42471343, 42471352-42471392, 42480568-42480588, 42480602-42480661, 42480665-42480675, 42489326 |
| 612 | ETHE1 | 19 | 0.95816993464052 | 32 | 765 | 44030365, 44030369, 44031249-44031263, 44031287, 44031316-44031329 |
| 613 | BCAM | 19 | 0 | 1887 | 1887 | 45312382-45312463, 45314482-45314603, 45315420-45315648, 45315735-45315805, 45316507-45316603, 45316695-45316877, 45317409-45317545, 45317861-45318017, 45321779-45321894, 45321998-45322139, 45322313-45322449, 45322603-45322747, 45322839-45322983, 45323962-45324079, 45324173-45324178 |
| 614 | APOE | 19 | 0 | 954 | 954 | 45409882-45409924, 45411017-45411209, 45411790-45412507 |
| 615 | APOC2 | 19 | 0 | 306 | 306 | 45451736-45451790, 45451958-45452117, 45452416-45452506 |
| 616 | BLOC1S3 | 19 | 0 | 609 | 609 | 45682555-45683163 |
| 617 | ERCC2 | 19 | 0 | 2283 | 2283 | 45854887-45854979, 45855467-45855610, 45855764-45855907, 45856004-45856074, 45856341-45856413, 45856500-45856592, 45857988-45858109, 45858923-45858986, 45860528-45860629, 45860732-45860801, 45860888-45860957, 45864782-45864900, 45867001-45867169, 45867244-45867377, 45867493-45867589, 45867682-45867805, 45868096-45868212, 45868300-45868416, 45871888-45872001, 45872188-45872250, 45872328-45872405, 45873391-45873490, 45873794-45873798 |
| 618 | OPA3 | 19 | 0 | 543 | 543 | 46032314-46032714, 46087881-46088022 |
| 619 | SIX5 | 19 | 0 | 2220 | 2220 | 46268759-46269369, 46269608-46270413, 46271300-46272102 |
| 620 | DMPK | 19 | 0 | 1890 | 1890 | 46273746-46273898, 46274229-46274318, 46274608-46274654, 46274826-46274923, 46275029-46275186, 46275899-46276010, 46278207-46278292, 46280585-46280848, 46280925-46281131, 46281385-46281478, 46281751-46281899, 46282522-46282617, 46282697-46282780, 46283036-46283127, 46285451-46285610 |
| 621 | FKRP | 19 | 0.47782258064516 | 777 | 1488 | 47258726, 47258729, 47258739-47258741, 47258790-47258825, 47258839-47258845, 47259025-47259229, 47259239-47259545, 47259554-47259558, 47259589-47259684, 47259704-47259789, 47259827-47259833, 47260050, 47260053-47260060, 47260129-47260132, 47260170-47260179 |
| 622 | CRX | 19 | 0.97444444444444 | 23 | 900 | 48342620-48342621, 48342631-48342643, 48342658, 48342669-48342675 |
| 623 | DBP | 19 | 0.64212678936605 | 350 | 978 | 49138837-49139154, 49139173, 49139241, 49139244, 49140180-49140208 |
| 624 | BCAT2 | 19 | 0.98812553011026 | 14 | 1179 | 49299887, 49303446, 49303452-49303461, 49303464, 49303470 |
| 625 | GYS1 | 19 | 0.99819331526649 | 4 | 2214 | 49473884, 49473887-49473889 |
| 626 | MED25 | 19 | 0.92914438502674 | 159 | 2244 | 50321622, 50321625-50321626, 50333148, 50333152-50333155, 50333162-50333168, 50333185, 50333426-50333427, 50333441-50333446, 50333768-50333808, 50333815-50333825, 50334021-50334028, 50334048-50334064, 50334103-50334109, 50334114, 50334120, 50334125-50334143, 50335407, 50338799-50338800, 50338850-50338862, 50339510-50339514, 50339525-50339526, 50339548, 50340118-50340123 |
| 627 | PNKP | 19 | 0.94125159642401 | 92 | 1566 | 50364520, 50364912-50364922, 50364926-50364928, 50365033, 50365042-50365045, 50365523, 50365628-50365651, 50365835-50365839, 50365843-50365865, 50365954-50365960, 50368397-50368408 |
| 628 | MYH14 | 19 | 0.9720176730486 | 171 | 6111 | 50713648-50713657, 50713660-50713672, 50713676, 50713700-50713706, 50713716-50713718, 50713895, 50713948-50713952, 50714015-50714016, 50728842-50728844, 50733785-50733788, 50735271, 50747517, 50762418, 50764738-50764739, 50764743, 50764864-50764875, 50766613, 50770214-50770237, 50770249, 50770255-50770265, 50775951, 50779280-50779283, 50779286, 50780073, 50780082-50780105, 50780125-50780132, 50780135, 50781456-50781458, 50784918, 50795632-50795643, 50804977, 50804998, 50805012, 50812925, 50812942, 50813005-50813010 |
| 629 | KCNC3 | 19 | 0.50395778364116 | 1128 | 2274 | 50823503-50823598, 50823854-50823858, 50824009, 50824015-50824016, 50826267-50826299, 50826308-50826314, 50826327-50826369, 50826405, 50826408-50826413, 50826418, 50826431-50826432, 50826436-50826467, 50826499, 50826557-50826571, 50826632, 50826635-50826639, 50826645-50826651, 50831470-50832339 |
| 630 | KLK4 | 19 | 0.94640522875817 | 41 | 765 | 51412019, 51412031, 51412522, 51412597-51412599, 51412602, 51412607-51412629, 51412646-51412650, 51412653, 51412666-51412670 |
| 631 | ETFB | 19 | 0.9971181556196 | 3 | 1041 | 51856436, 51857420, 51857425 |
| 632 | NLRP12 | 19 | 0.96453232893911 | 113 | 3186 | 54297304, 54299156, 54313210, 54313627-54313678, 54313696-54313704, 54313982-54313987, 54313990, 54314081-54314105, 54314410-54314416, 54314422, 54314426-54314434 |
| 633 | PRKCG | 19 | 0.75883476599809 | 505 | 2094 | 54385749-54385909, 54385918, 54387473-54387474, 54392898-54393002, 54393140-54393271, 54401836, 54403993, 54409644-54409654, 54409969-54410015, 54410031-54410074 |
| 634 | PRPF31 | 19 | 0.97533333333333 | 37 | 1500 | 54627134-54627136, 54627141, 54627160, 54627878-54627905, 54631567-54631568, 54631572-54631573 |
| 635 | TSEN34 | 19 | 0.88853161843516 | 104 | 933 | 54695234-54695241, 54695246, 54695261, 54695273-54695301, 54695305-54695310, 54695314, 54695328-54695331, 54695334-54695375, 54695395-54695396, 54695400-54695402, 54697067-54697073 |
| 636 | NLRP7 | 19 | 0.9771997430957 | 71 | 3114 | 55435109-55435123, 55441995, 55450941-55450974, 55451200-55451216, 55453035-55453038 |
| 637 | TNNT1 | 19 | 0.92522179974651 | 59 | 789 | 55648531-55648540, 55648543, 55648554, 55648569-55648573, 55648580, 55649352, 55652253-55652254, 55652265-55652282, 55652289, 55652295, 55652300-55652301, 55652303-55652307, 55652321, 55652324, 55652658, 55657827, 55658383-55658389 |
| 638 | TNNI3 | 19 | 0.78653530377668 | 130 | 609 | 55665458-55665498, 55667579-55667650, 55667684-55667700 |
| 639 | TPO | 2 | 0.89221984296931 | 302 | 2802 | 1480858-1480862, 1480866, 1480871, 1480875-1480912, 1480918-1480927, 1480935-1480940, 1480950-1480978, 1480983, 1480989-1480994, 1481002-1481013, 1481017, 1481060-1481061, 1481074-1481075, 1481094-1481098, 1481102-1481108, 1481117, 1481119-1481125, 1481143, 1481155, 1481165-1481228, 1481231-1481236, 1481243, 1481247-1481256, 1481262-1481266, 1481273-1481279, 1481321-1481376, 1488536-1488539, 1488542-1488543, 1488551-1488555, 1488563, 1507766-1507767, 1507773-1507775 |
| 640 | RPS7 | 2 | 0.87692307692308 | 72 | 585 | 3623200-3623271 |
| 641 | KLF11 | 2 | 0.97141000649773 | 44 | 1539 | 10183844-10183885, 10188188, 10188460 |
| 642 | LPIN1 | 2 | 0.99027310138421 | 26 | 2673 | 11911733-11911752, 11919750, 11955325, 11955327-11955330 |
| 643 | MYCN | 2 | 0.71254480286738 | 401 | 1395 | 16082187-16082194, 16082306, 16082388-16082392, 16082400, 16082404, 16082411-16082422, 16082428-16082431, 16082467-16082487, 16082492, 16082554-16082895, 16082907, 16082910, 16082915, 16082925, 16086077 |
| 644 | MATN3 | 2 | 0.84531143052704 | 226 | 1461 | 20203027, 20203030-20203032, 20203035-20203044, 20212174-20212249, 20212257-20212392 |
| 645 | APOB | 2 | 0.99393806602396 | 83 | 13692 | 21263855, 21266736-21266817 |
| 646 | POMC | 2 | 0.84701492537313 | 123 | 804 | 25384125-25384127, 25384131, 25384140-25384159, 25384186-25384187, 25384235-25384255, 25384260-25384267, 25384319, 25384342, 25384381-25384384, 25384397-25384406, 25384409-25384410, 25384417-25384419, 25384429-25384435, 25384438, 25384444, 25384453-25384482, 25384507, 25384531-25384536, 25384598 |
| 647 | HADHA | 2 | 0.99650959860384 | 8 | 2292 | 26417978-26417981, 26417986-26417989 |
| 648 | OTOF | 2 | 0.95228561895229 | 286 | 5994 | 26685046-26685049, 26689673, 26689694, 26689697, 26696881-26696883, 26696892-26696895, 26696963-26696970, 26697381-26697391, 26697395-26697412, 26697415-26697420, 26697423, 26699052-26699055, 26699121, 26699759-26699911, 26700040-26700057, 26700102-26700145, 26700525-26700526, 26702342, 26703755, 26712138, 26712606-26712608 |
| 649 | EIF2B4 | 2 | 0.99816176470588 | 3 | 1632 | 27592858-27592860 |
| 650 | C2orf71 | 2 | 0.98913886733902 | 42 | 3867 | 29293522, 29293612, 29293641-29293642, 29293652-29293657, 29293660-29293663, 29293668, 29293680-29293682, 29294016-29294022, 29294025-29294027, 29294047-29294054, 29294093, 29294099-29294103 |
| 651 | ALK | 2 | 0.96956611145384 | 148 | 4863 | 29420426-29420427, 29420438-29420439, 29451754-29451760, 29451763, 29451777-29451778, 29451782-29451793, 29462685-29462691, 29754867-29754872, 29754888-29754895, 30143236-30143268, 30143313, 30143385-30143400, 30143405-30143409, 30143419-30143429, 30143435-30143436, 30143440-30143459, 30143466-30143472, 30143499, 30143509, 30143522-30143525 |
| 652 | SRD5A2 | 2 | 0.96325459317585 | 28 | 762 | 31805752-31805753, 31805761, 31805764, 31805776-31805778, 31805817, 31805820-31805835, 31805930, 31805952-31805954 |
| 653 | SPAST | 2 | 0.81901674770394 | 335 | 1851 | 32288944-32288951, 32288976, 32288991-32289315, 32323917 |
| 654 | CYP1B1 | 2 | 0.82107843137255 | 292 | 1632 | 38301858-38301877, 38301903, 38301921, 38301929, 38301980-38302070, 38302077-38302104, 38302145-38302151, 38302162-38302173, 38302181-38302184, 38302191-38302213, 38302226, 38302235-38302237, 38302240, 38302257, 38302261, 38302305-38302335, 38302347-38302355, 38302366-38302407, 38302415-38302429 |
| 655 | SOS1 | 2 | 0.99350324837581 | 26 | 4002 | 39347524-39347527, 39347532-39347538, 39347549-39347563 |
| 656 | ABCG5 | 2 | 0.95552147239264 | 87 | 1956 | 44058918-44058942, 44058949-44058996, 44059086-44059088, 44059102-44059105, 44059111, 44059119, 44059131, 44059201, 44059205, 44059218, 44065752 |
| 657 | ABCG8 | 2 | 0.99851632047478 | 3 | 2022 | 44073354-44073356 |
| 658 | LRPPRC | 2 | 0.98757467144564 | 52 | 4185 | 44222948, 44222952-44222971, 44222974-44222975, 44222987-44222992, 44223017, 44223020, 44223030-44223031, 44223039-44223044, 44223053, 44223055-44223056, 44223061, 44223076-44223083, 44223086 |
| 659 | SIX3 | 2 | 0.75675675675676 | 243 | 999 | 45169263-45169265, 45169271, 45169281, 45169302-45169320, 45169322, 45169331-45169336, 45169341-45169390, 45169396, 45169403, 45169407, 45169413-45169418, 45169424-45169444, 45169447-45169449, 45169453, 45169456-45169460, 45169500-45169507, 45169513-45169517, 45169534-45169543, 45169568-45169580, 45169589-45169591, 45169596-45169602, 45169633-45169661, 45169678, 45169681, 45170030, 45170035, 45170042, 45171738-45171742, 45171751-45171753, 45171767-45171782, 45171793-45171802, 45171833-45171836, 45171840-45171844 |
| 660 | EPCAM | 2 | 0.96931216931217 | 29 | 945 | 47596645-47596660, 47596671-47596674, 47596678, 47596680-47596682, 47596684, 47596687-47596688, 47596701-47596702 |
| 661 | MSH2 | 2 | 0.99393939393939 | 17 | 2805 | 47630457, 47630468, 47630480-47630483, 47639558-47639560, 47639564-47639565, 47639604-47639607, 47639639, 47703610 |
| 662 | MSH6 | 2 | 0.93632133235366 | 260 | 4083 | 48010373-48010632 |
| 663 | LHCGR | 2 | 0.9447619047619 | 116 | 2100 | 48982675-48982697, 48982718-48982810 |
| 664 | NRXN1 | 2 | 0.95254237288136 | 210 | 4425 | 50149133-50149134, 50149143, 50149343-50149346, 50149352, 50149364-50149365, 51254640-51254647, 51254689, 51254759-51254765, 51254769-51254778, 51254825-51254826, 51254898-51254947, 51255064, 51255067, 51255072, 51255077, 51255091, 51255108-51255110, 51255127-51255137, 51255142, 51255147, 51255155, 51255158-51255162, 51255263, 51255271-51255274, 51255284-51255324, 51255340-51255353, 51255357-51255365, 51255382-51255383, 51255388-51255411 |
| 665 | EFEMP1 | 2 | 0.99257759784076 | 11 | 1482 | 56102119-56102125, 56103838, 56144973-56144975 |
| 666 | FANCL | 2 | 0.98936170212766 | 12 | 1128 | 58390001-58390012 |
| 667 | ATP6V1B1 | 2 | 0.9935149156939 | 10 | 1542 | 71163094-71163101, 71163106, 71187182 |
| 668 | DYSF | 2 | 0.99308176100629 | 44 | 6360 | 71693973, 71693982-71694000, 71694018, 71694022, 71694026-71694027, 71753434-71753443, 71753455-71753464 |
| 669 | SPR | 2 | 0.63486005089059 | 287 | 786 | 73114562-73114848 |
| 670 | ALMS1 | 2 | 0.99088291746641 | 114 | 12504 | 73612997-73613062, 73613071-73613074, 73613086-73613088, 73613091, 73613095, 73613102-73613109, 73613115, 73613119, 73613244-73613245, 73613251-73613252, 73613255-73613266, 73613283, 73613295-73613300, 73676170, 73786106, 73786113-73786116 |
| 671 | SLC4A5 | 2 | 0.99736379613357 | 9 | 3414 | 74460602-74460605, 74513016-74513020 |
| 672 | DCTN1 | 2 | 0.99166015115976 | 32 | 3837 | 74590479, 74590487-74590491, 74590494-74590495, 74590515-74590519, 74590528-74590531, 74593679-74593681, 74595178, 74598129, 74598777, 74598783-74598785, 74605338-74605339, 74605348-74605351 |
| 673 | MOGS | 2 | 0.96340493237868 | 92 | 2514 | 74688818-74688826, 74688926-74688927, 74692104-74692113, 74692120-74692145, 74692153-74692160, 74692163-74692168, 74692171-74692175, 74692191, 74692194, 74692263-74692264, 74692267-74692273, 74692291, 74692297, 74692300, 74692349, 74692352-74692362 |
| 674 | HTRA2 | 2 | 0.90268700072622 | 134 | 1377 | 74757134-74757145, 74757150, 74757156-74757163, 74757166-74757168, 74757220, 74757235-74757237, 74757240-74757243, 74757246, 74757249, 74757275, 74757293-74757299, 74757304, 74757307-74757308, 74757336-74757339, 74757346-74757355, 74757360-74757375, 74757379, 74757393, 74757397-74757405, 74757415, 74757419, 74757428-74757447, 74757451, 74757456, 74757463, 74757471-74757476, 74757525-74757528, 74757537-74757538, 74757541-74757548, 74757554-74757555, 74757559 |
| 675 | SUCLG1 | 2 | 0.95389048991354 | 48 | 1041 | 84668454, 84686297-84686315, 84686326-84686348, 84686389-84686393 |
| 676 | GGCX | 2 | 0.99385155906895 | 14 | 2277 | 85788518, 85788521-85788523, 85788528-85788531, 85788542-85788547 |
| 677 | SFTPB | 2 | 0.9738219895288 | 30 | 1146 | 85889232, 85890492-85890495, 85890501-85890506, 85890511, 85890529-85890538, 85890563, 85890828, 85890850, 85895269-85895273 |
| 678 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
| 679 | EIF2AK3 | 2 | 0.93912264995524 | 204 | 3351 | 88926549-88926592, 88926602-88926712, 88926732-88926741, 88926747-88926785 |
| 680 | RPIA | 2 | 0.98611111111111 | 13 | 936 | 88991251, 88991254-88991258, 88991266, 88991288-88991292, 88991460 |
| 681 | TMEM127 | 2 | 0.82287308228731 | 127 | 717 | 96930878-96930909, 96930920-96930925, 96930932-96930937, 96930989-96931001, 96931019-96931054, 96931086-96931119 |
| 682 | ZAP70 | 2 | 0.94731182795699 | 98 | 1860 | 98340547-98340592, 98340628-98340633, 98340719-98340722, 98340735-98340739, 98340765-98340768, 98340804-98340818, 98340826, 98340829, 98340841-98340845, 98340860, 98340875-98340879, 98341651, 98341659, 98354033, 98354036, 98354040 |
| 683 | RANBP2 | 2 | 0.97612403100775 | 231 | 9675 | 109336063-109336073, 109336081-109336124, 109347317-109347323, 109347919, 109352111-109352120, 109357110-109357116, 109368104-109368110, 109368327-109368349, 109371388, 109371656-109371662, 109378578-109378580, 109382787-109382793, 109383268-109383274, 109383295-109383321, 109383354-109383360, 109383792-109383814, 109383992-109384010, 109384466-109384474, 109397751-109397752, 109397756, 109397761, 109397764, 109397772-109397776, 109397788 |
| 684 | NPHP1 | 2 | 0.99754178957719 | 5 | 2034 | 110917720, 110917726, 110917734, 110917739, 110917743 |
| 685 | MERTK | 2 | 0.97266666666667 | 82 | 3000 | 112656313-112656373, 112786220-112786240 |
| 686 | GLI2 | 2 | 0.82902751522789 | 814 | 4761 | 121555005-121555044, 121709010-121709011, 121726309-121726310, 121726351-121726353, 121726357, 121726452-121726456, 121726463, 121728016-121728025, 121728139-121728149, 121729585-121729591, 121729603-121729626, 121729629-121729632, 121745820-121745835, 121745842, 121745846-121745847, 121745910-121745912, 121745987-121746005, 121746013, 121746019-121746020, 121746022-121746062, 121746070-121746576, 121746585, 121746631-121746676, 121746703-121746713, 121746736, 121746796-121746804, 121746817-121746833, 121747042, 121747045, 121747056, 121747059, 121747370-121747385, 121747405-121747406, 121747509, 121747607-121747609, 121747624 |
| 687 | BIN1 | 2 | 0.98260381593715 | 31 | 1782 | 127808406-127808408, 127808414, 127808420, 127808773-127808790, 127811555, 127815063-127815069 |
| 688 | PROC | 2 | 0.79076479076479 | 290 | 1386 | 128178867-128178877, 128178897-128178899, 128178907-128178911, 128178936-128178957, 128180493-128180517, 128180610-128180747, 128180850-128180894, 128180921-128180961 |
| 689 | CFC1 | 2 | 0.70535714285714 | 198 | 672 | 131279059-131279060, 131279066, 131279622, 131279688, 131280363-131280477, 131280773-131280775, 131280782-131280786, 131280792, 131280798-131280799, 131280804, 131280834, 131280842, 131285300-131285322, 131285343, 131285346, 131285365, 131285370, 131285393-131285429 |
| 690 | RAB3GAP1 | 2 | 0.9949083503055 | 15 | 2946 | 135815590, 135815594-135815595, 135920130-135920138, 135920155, 135922168, 135922180 |
| 691 | LCT | 2 | 0.99861687413555 | 8 | 5784 | 136562349, 136567541-136567544, 136567548, 136590746-136590747 |
| 692 | MCM6 | 2 | 0.99270072992701 | 18 | 2466 | 136615478-136615480, 136633880, 136633884, 136633896-136633906, 136633915, 136633918 |
| 693 | ZEB2 | 2 | 0.97942386831276 | 75 | 3645 | 145147382, 145147385, 145274845-145274917 |
| 694 | MMADHC | 2 | 0.98877665544332 | 10 | 891 | 150438656-150438665 |
| 695 | NEB | 2 | 0.99724642034645 | 55 | 19974 | 152417767, 152432729-152432736, 152432754-152432760, 152432771-152432775, 152432840-152432868, 152497149-152497152, 152521045 |
| 696 | CACNB4 | 2 | 0.9616122840691 | 60 | 1563 | 152698468, 152954920, 152955468-152955525 |
| 697 | ACVR1 | 2 | 0.99803921568627 | 3 | 1530 | 158622674-158622676 |
| 698 | SCN2A | 2 | 0.99385177799934 | 37 | 6018 | 166170575, 166171984, 166172005-166172006, 166210830, 166211159-166211166, 166221685, 166223855-166223861, 166231387, 166237670, 166245227-166245233, 166245280-166245284, 166245292-166245293 |
| 699 | GALNT3 | 2 | 0.99894847528917 | 2 | 1902 | 166627132, 166627149 |
| 700 | SCN1A | 2 | 0.99049524762381 | 57 | 5997 | 166848784-166848829, 166848838-166848844, 166896067, 166901770, 166903292, 166903295 |
| 701 | SCN9A | 2 | 0.99578699022582 | 25 | 5934 | 167083168, 167084222, 167089914-167089920, 167133744, 167134692, 167138231-167138234, 167168093, 167168100-167168104, 167168127-167168130 |
| 702 | ABCB11 | 2 | 0.99218356026223 | 31 | 3966 | 169788923-169788953 |
| 703 | SLC25A12 | 2 | 0.99901816396662 | 2 | 2037 | 172750716-172750717 |
| 704 | ITGA6 | 2 | 0.94444444444444 | 182 | 3276 | 173292517-173292698 |
| 705 | CHN1 | 2 | 0.98623188405797 | 19 | 1380 | 175869622-175869640 |
| 706 | HOXD13 | 2 | 0.63856589147287 | 373 | 1032 | 176957619-176957923, 176957931-176957938, 176957945-176957948, 176957954-176957959, 176957963-176957965, 176957969-176957976, 176957980-176957982, 176957984-176957996, 176958001-176958022, 176958081 |
| 707 | AGPS | 2 | 0.97268588770865 | 54 | 1977 | 178257552-178257560, 178257565, 178257577, 178257580-178257582, 178257586-178257591, 178257594-178257596, 178257603-178257612, 178257621, 178257624-178257625, 178257637-178257647, 178257702-178257704, 178257707-178257708, 178285067, 178362484 |
| 708 | PRKRA | 2 | 0.94055201698514 | 56 | 942 | 179315693-179315741, 179315751-179315757 |
| 709 | TTN | 2 | 0.99874311706967 | 126 | 100248 | 179392337-179392341, 179392347, 179392350-179392352, 179392357-179392365, 179392371-179392375, 179404988-179404995, 179407027, 179415838-179415840, 179415858, 179415861, 179422749, 179425471-179425475, 179430997, 179447772-179447773, 179447777, 179447782-179447785, 179467228, 179469782-179469783, 179497649-179497651, 179514899-179514900, 179514907-179514908, 179516187-179516190, 179516195, 179516198, 179545859-179545862, 179560916-179560917, 179563640-179563641, 179565865-179565883, 179580247, 179583899-179583910, 179597393-179597396, 179597750, 179597768, 179634497, 179648826-179648827, 179659928, 179664635-179664637, 179665137, 179665141-179665143, 179666877, 179666883 |
| 710 | CERKL | 2 | 0.99874921826141 | 2 | 1599 | 182521496, 182521499 |
| 711 | NEUROD1 | 2 | 0.99253034547152 | 8 | 1071 | 182542535-182542542 |
| 712 | COL3A1 | 2 | 0.97386957509657 | 115 | 4401 | 189850463-189850465, 189854122, 189856422-189856433, 189856932, 189860419, 189860431, 189860436, 189860445-189860449, 189860455-189860457, 189860468, 189860851-189860885, 189861170-189861201, 189867057, 189871670-189871675, 189871682-189871683, 189872279, 189872612-189872619, 189872624 |
| 713 | COL5A2 | 2 | 0.99111111111111 | 40 | 4500 | 189904026, 189909957-189909958, 189916076-189916080, 189916900-189916927, 189918200, 189932786, 189932801-189932802 |
| 714 | SLC40A1 | 2 | 0.99941724941725 | 1 | 1716 | 190436511 |
| 715 | PMS1 | 2 | 0.99821364773133 | 5 | 2799 | 190718789-190718790, 190719109-190719111 |
| 716 | MSTN | 2 | 0.9991134751773 | 1 | 1128 | 190927000 |
| 717 | STAT1 | 2 | 0.97248113626276 | 62 | 2253 | 191843607-191843609, 191843621, 191843657-191843658, 191843668-191843671, 191847172, 191848414, 191859787-191859791, 191859794, 191859798-191859801, 191859827-191859828, 191859889-191859890, 191859895, 191859898-191859906, 191859911-191859923, 191862598-191862600, 191862614-191862619, 191862624-191862625, 191862628, 191862638 |
| 718 | CASP10 | 2 | 0.9993626513703 | 1 | 1569 | 202068454 |
| 719 | ALS2 | 2 | 0.98693204664254 | 65 | 4974 | 202569866, 202569870, 202569873-202569878, 202569884-202569896, 202569899, 202626268-202626276, 202626297-202626298, 202626360-202626391 |
| 720 | BMPR2 | 2 | 0.99807507218479 | 6 | 3117 | 203424593-203424597, 203424601 |
| 721 | NDUFS1 | 2 | 0.99862637362637 | 3 | 2184 | 206992586-206992587, 206992596 |
| 722 | FASTKD2 | 2 | 0.9957805907173 | 9 | 2133 | 207632014, 207652757-207652764 |
| 723 | ACADL | 2 | 0.99303944315545 | 9 | 1293 | 211089913, 211089919, 211089929-211089930, 211089934-211089938 |
| 724 | CPS1 | 2 | 0.99977792582723 | 1 | 4503 | 211455621 |
| 725 | ABCA12 | 2 | 0.99576271186441 | 33 | 7788 | 215797388, 215798889, 215809748-215809749, 215854183-215854187, 215854286-215854293, 215854323, 215854327-215854332, 215854338-215854345, 215880285 |
| 726 | SMARCAL1 | 2 | 0.99965095986038 | 1 | 2865 | 217285107 |
| 727 | PNKD | 2 | 0.93091537132988 | 80 | 1158 | 219204506-219204538, 219204554-219204599, 219204848 |
| 728 | BCS1L | 2 | 0.99920634920635 | 1 | 1260 | 219525792 |
| 729 | CYP27A1 | 2 | 0.99498746867168 | 8 | 1596 | 219646918, 219646937-219646943 |
| 730 | WNT10A | 2 | 0.792663476874 | 260 | 1254 | 219745718-219745730, 219745741-219745774, 219745789-219745825, 219757537-219757559, 219757563, 219757602, 219757606, 219757619-219757623, 219757663-219757683, 219757690-219757699, 219757702, 219757705-219757712, 219757718-219757740, 219757760-219757796, 219757815-219757818, 219757839, 219757863-219757865, 219757868, 219757874-219757878, 219757892-219757893, 219757896-219757920, 219757923, 219757927-219757929 |
| 731 | DES | 2 | 0.83864118895966 | 228 | 1413 | 220283185-220283203, 220283215-220283231, 220283241-220283251, 220283257-220283261, 220283265-220283266, 220283271-220283278, 220283285, 220283332, 220283336-220283339, 220283357-220283376, 220283387-220283391, 220283394, 220283398-220283406, 220283409-220283426, 220283432-220283434, 220283439-220283451, 220283582-220283630, 220283696-220283729, 220285275-220285279, 220285301-220285302, 220285309 |
| 732 | OBSL1 | 2 | 0.81163240203831 | 1072 | 5691 | 220416254-220416257, 220416261-220416270, 220416280-220416282, 220416292-220416301, 220416311, 220416323-220416335, 220416356-220416374, 220416390-220416421, 220416432-220416442, 220416461-220416499, 220416844-220416887, 220416902-220416912, 220417273-220417278, 220417282-220417285, 220417287-220417311, 220417315, 220417318-220417319, 220417322-220417329, 220417332, 220417353-220417365, 220417368-220417380, 220417382-220417391, 220417401-220417419, 220417604-220417641, 220417652-220417656, 220417660, 220417664, 220417670, 220417718-220417719, 220417732-220417739, 220417741-220417742, 220418383, 220422627-220422628, 220432171, 220432926-220432927, 220435043-220435045, 220435057-220435059, 220435070-220435072, 220435075-220435080, 220435128-220435135, 220435140, 220435223-220435227, 220435232, 220435236-220435241, 220435244-220435255, 220435266-220435267, 220435271, 220435297-220435954 |
| 733 | PAX3 | 2 | 0.99604743083004 | 6 | 1518 | 223163270-223163273, 223163288-223163289 |
| 734 | COL4A4 | 2 | 0.99526066350711 | 24 | 5064 | 227875101, 227896871-227896874, 227896883, 227896886, 227942712, 227968715, 227984625-227984626, 227984645-227984655, 227985834, 227985837 |
| 735 | COL4A3 | 2 | 0.98144823459007 | 93 | 5013 | 228029443-228029475, 228029515, 228029522, 228029528, 228120742-228120751, 228134638, 228155580-228155586, 228162398-228162404, 228162407-228162410, 228162425, 228162428, 228162432-228162440, 228163443, 228163456-228163458, 228163477, 228163484-228163492, 228168802-228168804 |
| 736 | SLC19A3 | 2 | 0.98859825620389 | 17 | 1491 | 228563958, 228563961-228563972, 228564058, 228564083-228564085 |
| 737 | CHRND | 2 | 0.99163449163449 | 13 | 1554 | 233390930, 233390937-233390946, 233390956, 233394677 |
| 738 | CHRNG | 2 | 0.97490347490347 | 39 | 1554 | 233404464-233404485, 233404493-233404495, 233405312-233405314, 233405318-233405320, 233405325-233405327, 233409537-233409539, 233409594, 233409612 |
| 739 | SAG | 2 | 0.9991789819376 | 1 | 1218 | 234243645 |
| 740 | UGT1A1 | 2 | 0.98689138576779 | 21 | 1602 | 234668951-234668954, 234668958-234668959, 234668963-234668977 |
| 741 | COL6A3 | 2 | 0.98919655968114 | 103 | 9534 | 238244868-238244879, 238244890-238244891, 238249281-238249284, 238257256, 238280446-238280456, 238280459, 238283092-238283109, 238283112-238283114, 238283117, 238283327, 238283427-238283432, 238283440-238283455, 238285540-238285543, 238287502-238287509, 238287546-238287548, 238287554, 238287558-238287566, 238303252, 238303548 |
| 742 | AGXT | 2 | 0.98642917726887 | 16 | 1179 | 241808360, 241808363-241808369, 241808372-241808373, 241808389-241808390, 241818131-241818134 |
| 743 | D2HGDH | 2 | 0.77394636015326 | 354 | 1566 | 242674640-242674687, 242674695-242674722, 242674731-242674765, 242674779-242674793, 242674851-242674855, 242674861-242674869, 242689588-242689598, 242689677, 242695425-242695426, 242707153-242707188, 242707208-242707248, 242707262-242707384 |
| 744 | C20orf54 | 20 | 0.98297872340426 | 24 | 1410 | 744353-744374, 745976, 746195 |
| 745 | IDH3B | 20 | 0.99913644214162 | 1 | 1158 | 2644577 |
| 746 | AVP | 20 | 0.24242424242424 | 375 | 495 | 3063276-3063448, 3063623-3063824 |
| 747 | PANK2 | 20 | 0.71862230005838 | 482 | 1713 | 3869763-3869768, 3869792-3869793, 3869795-3869798, 3869819-3869830, 3869839-3870043, 3870078-3870109, 3870124-3870129, 3870133, 3870137-3870142, 3870150, 3870156-3870177, 3870182-3870202, 3870212-3870375 |
| 748 | PRNP | 20 | 0.99737532808399 | 2 | 762 | 4680091-4680092 |
| 749 | PROKR2 | 20 | 0.99479166666667 | 6 | 1152 | 5283045-5283050 |
| 750 | FERMT1 | 20 | 0.99754178957719 | 5 | 2034 | 6088233-6088237 |
| 751 | JAG1 | 20 | 0.97074104457205 | 107 | 3657 | 10653450-10653458, 10653468-10653476, 10653545, 10653560-10653561, 10653570-10653575, 10653635-10653636, 10653643, 10654102-10654178 |
| 752 | C20orf7 | 20 | 0.99036608863198 | 10 | 1038 | 13782166, 13782175, 13782201-13782204, 13782228-13782231 |
| 753 | THBD | 20 | 0.80381944444444 | 339 | 1728 | 23028428-23028439, 23028449-23028452, 23028632-23028633, 23028639-23028643, 23028648, 23028654-23028658, 23028661-23028663, 23028666-23028667, 23028960-23028961, 23028966, 23028969, 23029062, 23029076-23029080, 23029264-23029277, 23029285-23029292, 23029305-23029306, 23029311-23029328, 23029335, 23029368, 23029377, 23029462-23029481, 23029496-23029499, 23029503-23029508, 23029517-23029537, 23029542-23029544, 23029560-23029566, 23029577-23029606, 23029648-23029655, 23029670-23029674, 23029698, 23029701-23029702, 23029705-23029715, 23029717-23029718, 23029720-23029737, 23029748-23029753, 23029761-23029790, 23029798-23029804, 23029814-23029841, 23029873-23029894, 23029897, 23029904-23029907, 23030035, 23030038-23030039, 23030045-23030054, 23030088 |
| 754 | SNTA1 | 20 | 0.80632411067194 | 294 | 1518 | 32031133-32031426 |
| 755 | GSS | 20 | 0.99929824561404 | 1 | 1425 | 33539592 |
| 756 | GDF5 | 20 | 0.97078353253652 | 44 | 1506 | 34021839, 34022088, 34022427-34022428, 34022438-34022439, 34025099-34025101, 34025109-34025129, 34025151, 34025180-34025183, 34025264-34025265, 34025451-34025457 |
| 757 | SAMHD1 | 20 | 0.97129186602871 | 54 | 1881 | 35547866, 35547869, 35579843-35579866, 35579870-35579879, 35579886, 35579897-35579902, 35579909-35579915, 35579932, 35579953, 35579966-35579967 |
| 758 | HNF4A | 20 | 0.99087719298246 | 13 | 1425 | 43052762-43052766, 43052772-43052779 |
| 759 | ADA | 20 | 0.93315018315018 | 73 | 1092 | 43257735-43257774, 43280216-43280248 |
| 760 | CTSA | 20 | 0.97595190380762 | 36 | 1497 | 44520231-44520234, 44520237-44520257, 44520260-44520265, 44520332, 44523633-44523634, 44523637, 44523643 |
| 761 | SLC2A10 | 20 | 0.99507995079951 | 8 | 1626 | 45338376-45338379, 45354187, 45354190, 45354301, 45358003 |
| 762 | SALL4 | 20 | 0.97058823529412 | 93 | 3162 | 50408028-50408066, 50408346-50408354, 50408357-50408359, 50408362-50408363, 50408824, 50418821, 50418840-50418848, 50418850, 50418857-50418862, 50418871-50418877, 50418888-50418889, 50418901, 50418906, 50418918, 50418931-50418934, 50418941-50418946 |
| 763 | VAPB | 20 | 0.9207650273224 | 58 | 732 | 56964516-56964573 |
| 764 | GNAS | 20 | 0.86449864498645 | 100 | 738 | 57415187-57415189, 57415192-57415193, 57415230-57415237, 57415320-57415345, 57415353-57415371, 57415643-57415682, 57415703-57415704 |
| 765 | GNAS | 20 | 0.8538856775851 | 455 | 3114 | 57428712-57428714, 57428718-57428720, 57428908-57428911, 57428919-57428931, 57429085-57429096, 57429101, 57429107-57429115, 57429152-57429160, 57429367, 57429447-57429448, 57429454-57429470, 57429481-57429504, 57429526, 57429531, 57429540, 57429614-57429693, 57429714-57429731, 57429748-57429782, 57429797-57429821, 57429827-57429873, 57429906-57429915, 57429926-57429931, 57429940-57429948, 57429967-57429977, 57429998-57430003, 57430047-57430092, 57430098, 57430102-57430105, 57430108-57430123, 57430162-57430180, 57430284, 57430293, 57430303, 57430308, 57430372-57430388 |
| 766 | COL9A3 | 20 | 0.8992700729927 | 207 | 2055 | 61448417-61448494, 61448940-61448987, 61456334-61456362, 61457210, 61458633-61458635, 61461712, 61461736, 61461918, 61461921-61461933, 61468555, 61468560-61468589, 61468597 |
| 767 | CHRNA4 | 20 | 0.93259023354565 | 127 | 1884 | 61981075, 61981235, 61981239-61981245, 61981516-61981517, 61981566, 61981575, 61981592-61981601, 61981627-61981630, 61981645-61981646, 61981649, 61981654-61981660, 61981672-61981679, 61981682, 61981904, 61987409-61987416, 61987422-61987427, 61990939, 61992443-61992450, 61992461-61992517 |
| 768 | KCNQ2 | 20 | 0.81137838869798 | 494 | 2619 | 62038066-62038068, 62038142-62038191, 62038203-62038240, 62038258-62038261, 62038287-62038298, 62038344-62038373, 62038413-62038416, 62038470-62038473, 62038476-62038478, 62038496-62038505, 62038508, 62038511, 62038522-62038527, 62038531, 62038544, 62044881-62044888, 62046408, 62046421-62046422, 62059765-62059769, 62059785-62059788, 62076650-62076655, 62076661, 62076664, 62076677, 62078176, 62103521-62103816 |
| 769 | SOX18 | 20 | 0.075324675324675 | 1068 | 1155 | 62679536-62679575, 62679607-62679637, 62679655-62679698, 62679721-62680315, 62680512-62680869 |
| 770 | APP | 21 | 0.97795071335927 | 51 | 2313 | 27394188-27394194, 27394200, 27542885-27542924, 27542936-27542938 |
| 771 | BACH1 | 21 | 0.97421981004071 | 57 | 2211 | 30693731-30693737, 30698392-30698395, 30714725, 30714997-30715037, 30715068-30715070, 30715132 |
| 772 | SOD1 | 21 | 0.98064516129032 | 9 | 465 | 33032119, 33032147-33032154 |
| 773 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
| 774 | RCAN1 | 21 | 0.65217391304348 | 264 | 759 | 35895948-35895959, 35987059-35987310 |
| 775 | RUNX1 | 21 | 0.86625086625087 | 193 | 1443 | 36164447-36164448, 36164467, 36164471-36164477, 36164505, 36164510, 36164515, 36164518-36164525, 36164552, 36164564-36164588, 36164595-36164597, 36164607-36164614, 36259222-36259234, 36259239-36259241, 36259244-36259249, 36259257-36259259, 36259284-36259393 |
| 776 | CLDN14 | 21 | 0.99722222222222 | 2 | 720 | 37833553-37833554 |
| 777 | CBS | 21 | 0.9993961352657 | 1 | 1656 | 44483156 |
| 778 | CSTB | 21 | 0.77777777777778 | 66 | 297 | 45196085-45196150 |
| 779 | AIRE | 21 | 0.76129426129426 | 391 | 1638 | 45705890-45706021, 45706450, 45706511-45706514, 45706955-45706958, 45706977-45706983, 45706990-45706993, 45707001-45707011, 45707466-45707467, 45709903-45709914, 45709918-45709933, 45712876-45712924, 45712932-45712933, 45712943-45712950, 45712954-45712961, 45712971-45712978, 45712986, 45712989-45712991, 45712997-45712998, 45713001-45713002, 45713024, 45713030, 45713033-45713034, 45713040, 45713043-45713058, 45713688-45713694, 45713736-45713763, 45713770, 45713774-45713778, 45713786-45713793, 45714284-45714298, 45714306, 45714322-45714323, 45714338-45714348, 45714354, 45714358, 45714361-45714362, 45714374-45714384, 45716292 |
| 780 | ITGB2 | 21 | 0.94025974025974 | 138 | 2310 | 46306753-46306758, 46306766-46306769, 46308608-46308622, 46308627-46308653, 46308656-46308657, 46308660-46308727, 46308748-46308753, 46308757-46308760, 46308775-46308777, 46308781-46308783 |
| 781 | COL18A1 | 21 | 0.89439696106363 | 556 | 5265 | 46875445-46875450, 46875456, 46875459, 46875476-46875485, 46875491-46875504, 46875506-46875511, 46875591, 46875831-46875877, 46876173, 46876193-46876194, 46876197-46876199, 46876282, 46876306, 46876349-46876352, 46876362-46876366, 46876379-46876395, 46876416-46876419, 46876426, 46876430-46876434, 46876438, 46876469-46876487, 46876517, 46876529-46876560, 46876613-46876619, 46876645, 46876659-46876668, 46876673-46876675, 46876702-46876705, 46876709, 46888202, 46888216, 46888225, 46888228, 46898264, 46899850-46899866, 46900641-46900645, 46900650, 46900655, 46900661-46900663, 46900679-46900705, 46906777-46906802, 46906820, 46906824, 46909405-46909407, 46911170, 46911176-46911180, 46911183, 46911189-46911192, 46911220-46911223, 46916422-46916433, 46924426-46924434, 46925110-46925126, 46925153-46925154, 46925159, 46925294-46925300, 46925305-46925306, 46925762, 46925770, 46925778, 46929430-46929470, 46929484-46929515, 46929997-46930004, 46930017-46930018, 46930027, 46930045-46930047, 46930054, 46930057, 46930064, 46930069-46930082, 46930094-46930115, 46930137-46930175, 46931031, 46931038, 46931041, 46931085-46931089, 46931132, 46931137, 46932186-46932187, 46932198-46932209 |
| 782 | COL6A1 | 21 | 0.91026886945254 | 277 | 3087 | 47401765-47401829, 47401841, 47401844, 47406505-47406507, 47407524-47407526, 47407529, 47407547-47407552, 47410175-47410196, 47410305, 47410325-47410336, 47418827-47418830, 47418834-47418845, 47418848-47418849, 47419575-47419596, 47419598-47419600, 47419603-47419606, 47420673-47420681, 47421256-47421260, 47421270, 47422171-47422215, 47422299-47422304, 47422315, 47423328-47423337, 47423346, 47423349, 47423354-47423355, 47423421, 47423432-47423438, 47423441-47423455, 47423485, 47423507, 47423636, 47423906-47423913 |
| 783 | COL6A2 | 21 | 0.94313725490196 | 174 | 3060 | 47531438, 47531453-47531460, 47531465-47531466, 47531896-47531902, 47531911-47531913, 47531941, 47531967-47531971, 47532289, 47532294, 47539745-47539764, 47545421, 47545754, 47545824, 47545829-47545830, 47545889, 47545927, 47545962, 47545969, 47551914, 47551917-47551924, 47551988-47551992, 47552003-47552040, 47552051-47552058, 47552199-47552200, 47552204, 47552327, 47552330-47552360, 47552369-47552376, 47552379, 47552382-47552384, 47552458-47552466 |
| 784 | COL6A2 | 21 | 0.7280701754386 | 93 | 342 | 47552199-47552200, 47552204, 47552327, 47552330-47552360, 47552369-47552376, 47552379, 47552382-47552384, 47552458-47552466, 47552474-47552510 |
| 785 | FTCD | 21 | 0.90036900369004 | 162 | 1626 | 47565336-47565339, 47565345-47565347, 47565351, 47565375-47565377, 47565381-47565389, 47565413-47565430, 47565434-47565444, 47565447, 47565451-47565454, 47565491-47565492, 47565732-47565775, 47565794-47565801, 47565840-47565842, 47566206-47566208, 47570132, 47571479-47571488, 47571614, 47571859-47571866, 47574133-47574147, 47574194-47574206 |
| 786 | PCNT | 21 | 0.95035460992908 | 497 | 10011 | 47744143-47744156, 47744158-47744196, 47766793-47766796, 47766805-47766808, 47783688-47783693, 47783703-47783705, 47783759-47783766, 47783800-47783801, 47786593-47786595, 47786661, 47786673, 47811194-47811198, 47817982-47817983, 47817988-47817989, 47817996-47818000, 47818009, 47818019, 47818034-47818039, 47818152, 47822340-47822364, 47831309-47831359, 47831381-47831423, 47831443-47831486, 47831667, 47831723-47831734, 47831756-47831782, 47831927-47831933, 47832834-47832859, 47832870-47832904, 47836134, 47836715-47836717, 47848345-47848385, 47850557-47850571, 47851544-47851550, 47851665-47851668, 47851715-47851716, 47851837-47851842, 47851957, 47855979, 47858080-47858082, 47858093-47858099, 47859996-47860010, 47862485-47862486, 47863828-47863833, 47863839, 47863842-47863844 |
| 787 | PEX26 | 22 | 0.94880174291939 | 47 | 918 | 18561182-18561188, 18561201-18561207, 18561211-18561233, 18561238, 18561243-18561245, 18566324-18566329 |
| 788 | PRODH | 22 | 0.83971159179146 | 289 | 1803 | 18904414, 18907304, 18908875, 18908898-18908907, 18908918-18908920, 18923528-18923800 |
| 789 | GP1BB | 22 | 0.085346215780998 | 568 | 621 | 19711377-19711944 |
| 790 | TBX1 | 22 | 0.33602150537634 | 988 | 1488 | 19747168-19747181, 19748428-19748803, 19753293-19753298, 19753306-19753307, 19753323-19753332, 19753337, 19753426-19753525, 19753912-19754390 |
| 791 | SMARCB1 | 22 | 0.91796200345423 | 95 | 1158 | 24129357-24129449, 24175827, 24175830 |
| 792 | HPS4 | 22 | 0.97585227272727 | 51 | 2112 | 26849224-26849227, 26849230-26849236, 26849264, 26849285, 26849290-26849292, 26859917-26859948, 26860321-26860322, 26860326 |
| 793 | CHEK2 | 22 | 0.90573537762635 | 166 | 1761 | 29083905-29083923, 29083948-29083965, 29085160-29085197, 29091139-29091179, 29091737-29091764, 29091837-29091844, 29130654-29130664, 29130675-29130676, 29130683 |
| 794 | NF2 | 22 | 0.99552572706935 | 8 | 1788 | 30057204-30057211 |
| 795 | TCN2 | 22 | 0.98052959501558 | 25 | 1284 | 31003319-31003343 |
| 796 | DRG1 | 22 | 0.9945652173913 | 6 | 1104 | 31816398-31816403 |
| 797 | SLC5A1 | 22 | 0.97644110275689 | 47 | 1995 | 32464550-32464553, 32495193-32495235 |
| 798 | TIMP3 | 22 | 0.93710691823899 | 40 | 636 | 33197988, 33198041-33198042, 33198047, 33198051-33198082, 33198085, 33253333-33253335 |
| 799 | LARGE | 22 | 0.99867899603699 | 3 | 2271 | 33673195-33673197 |
| 800 | MYH9 | 22 | 0.99303076661567 | 41 | 5883 | 36681987-36681989, 36684900, 36685236-36685237, 36688085-36688103, 36688106-36688108, 36688111-36688116, 36689827, 36697069-36697070, 36712683, 36718554, 36718559, 36745190 |
| 801 | TRIOBP | 22 | 0.95914342068188 | 290 | 7098 | 38109236-38109242, 38109248-38109256, 38109279, 38109286, 38119742-38119774, 38119798-38119804, 38119856-38119862, 38119883-38119921, 38120031-38120052, 38120150-38120156, 38120193-38120199, 38120297-38120303, 38120394-38120432, 38120480-38120486, 38121751, 38121755, 38121766-38121771, 38121778-38121781, 38122039, 38122047-38122049, 38122054, 38122067-38122070, 38122073, 38122332, 38122433, 38122436, 38122440, 38122447-38122449, 38122452, 38129411, 38129414-38129419, 38130683, 38130700, 38130906, 38136937-38136948, 38147835, 38153914-38153917, 38153928-38153935, 38153941-38153949, 38154093, 38161735-38161736, 38161762, 38161774-38161789, 38165164, 38165173, 38165179 |
| 802 | SOX10 | 22 | 0.86509635974304 | 189 | 1401 | 38369822, 38369929-38369934, 38369937-38369939, 38369944-38369953, 38379372, 38379441, 38379491-38379501, 38379549-38379550, 38379638-38379791 |
| 803 | PLA2G6 | 22 | 0.99876084262701 | 3 | 2421 | 38528928-38528929, 38565241 |
| 804 | ADSL | 22 | 0.99518900343643 | 7 | 1455 | 40760321-40760327 |
| 805 | EP300 | 22 | 0.99240855762595 | 55 | 7245 | 41489061-41489062, 41513389-41513396, 41533704-41533711, 41536182, 41546126, 41546130-41546135, 41572419-41572420, 41573219-41573224, 41573387-41573389, 41573406, 41573413, 41573423-41573426, 41573772, 41574053, 41574058, 41574185, 41574190, 41574197-41574200, 41574207-41574209 |
| 806 | TNFRSF13C | 22 | 0.44684684684685 | 307 | 555 | 42322118, 42322129-42322135, 42322145-42322148, 42322157-42322175, 42322196-42322335, 42322642-42322777 |
| 807 | CYB5R3 | 22 | 0.97461368653422 | 23 | 906 | 43015795, 43015800, 43045301-43045321 |
| 808 | ATXN10 | 22 | 0.92296918767507 | 110 | 1428 | 46067944-46068002, 46068010-46068059, 46136356 |
| 809 | TRMU | 22 | 0.96445497630332 | 45 | 1266 | 46731683-46731684, 46731687, 46731691-46731708, 46731722-46731743, 46746277, 46751383 |
| 810 | ALG12 | 22 | 0.9918200408998 | 12 | 1467 | 50303728, 50303731, 50307368-50307371, 50307378, 50307382-50307385, 50307388 |
| 811 | MLC1 | 22 | 0.95590828924162 | 50 | 1134 | 50502470-50502472, 50502491, 50502495, 50502567-50502568, 50502579-50502620, 50523205 |
| 812 | SCO2 | 22 | 0.99875156054931 | 1 | 801 | 50962680 |
| 813 | TYMP | 22 | 0.59903381642512 | 581 | 1449 | 50964199-50964347, 50964430-50964570, 50964675-50964883, 50964896-50964899, 50964904-50964905, 50965014-50965015, 50965022, 50965034, 50965037, 50965041, 50965045, 50965067-50965070, 50965073-50965075, 50965080-50965098, 50965122, 50965126-50965132, 50965143-50965146, 50965152-50965160, 50965163, 50967642-50967647, 50967665-50967675, 50967932, 50968109-50968110, 50968125 |
| 814 | ARSA | 22 | 0.91207349081365 | 134 | 1524 | 51063653, 51063656, 51063661-51063665, 51063667-51063668, 51063683, 51063686-51063693, 51063755, 51063776-51063780, 51063788, 51063793-51063796, 51063805, 51063820-51063849, 51063853-51063855, 51064039, 51064068, 51064095-51064102, 51064105-51064109, 51064384, 51064390-51064391, 51064445-51064481, 51065150, 51065153, 51065306, 51065337, 51065433, 51065448, 51065747-51065749, 51066181, 51066185, 51066188, 51066193-51066196 |
| 815 | SHANK3 | 22 | 0.63806254767353 | 1898 | 5244 | 51113070-51113132, 51113476-51113520, 51113563-51113608, 51113642-51113651, 51113658-51113661, 51133354-51133357, 51133366, 51133371, 51133374, 51135673-51135680, 51135690-51135719, 51135951-51136143, 51143195, 51143220-51143222, 51143229, 51158612-51158614, 51158622-51158631, 51158637, 51158703-51158704, 51158708-51158716, 51158724-51159347, 51159353-51159360, 51159375-51159378, 51159434-51159444, 51159448-51159470, 51159478-51159481, 51159493-51159496, 51159582-51159635, 51159674-51159675, 51159679-51159680, 51159687-51159693, 51159702-51159709, 51159754, 51159768, 51159771-51159773, 51159785, 51159796-51159802, 51159811, 51159872-51159876, 51159923-51159927, 51159936-51159940, 51159943-51159944, 51159948-51159960, 51159994-51160004, 51160015-51160062, 51160189-51160196, 51160227-51160236, 51160239, 51160285-51160286, 51160289-51160299, 51160302, 51160348-51160354, 51160549-51160555, 51160561-51160569, 51160575, 51160578-51160584, 51160605-51160606, 51160807, 51160822-51160824, 51160853, 51160856-51160862, 51169149-51169150, 51169162-51169167, 51169192-51169195, 51169201-51169229, 51169252-51169740 |
| 816 | SUMF1 | 3 | 0.96266666666667 | 42 | 1125 | 4458884, 4508698-4508724, 4508742, 4508775-4508776, 4508854-4508857, 4508867-4508873 |
| 817 | ITPR1 | 3 | 0.99766383868191 | 19 | 8133 | 4687362, 4706899-4706903, 4726842-4726845, 4726850-4726852, 4776874-4776879 |
| 818 | FANCD2 | 3 | 0.97803442028986 | 97 | 4416 | 10085197-10085216, 10085533-10085548, 10088340-10088346, 10091150-10091156, 10107078-10107093, 10114941-10114949, 10132048-10132069 |
| 819 | VHL | 3 | 0.85202492211838 | 95 | 642 | 10183668-10183673, 10183700-10183742, 10183775-10183820 |
| 820 | RAF1 | 3 | 0.99743194658449 | 5 | 1947 | 12660118-12660122 |
| 821 | WNT7A | 3 | 0.98952380952381 | 11 | 1050 | 13860452, 13860618, 13860762-13860766, 13896255, 13896258-13896260 |
| 822 | XPC | 3 | 0.99326957137797 | 19 | 2823 | 14220011-14220013, 14220022, 14220032, 14220035-14220042, 14220052-14220057 |
| 823 | TGFBR2 | 3 | 0.96627318718381 | 60 | 1779 | 30648376-30648379, 30648392-30648405, 30648408, 30648426-30648466 |
| 824 | GLB1 | 3 | 0.95673549655851 | 88 | 2034 | 33099673-33099685, 33138503-33138577 |
| 825 | CRTAP | 3 | 0.61359867330017 | 466 | 1206 | 33155570-33156028, 33156034-33156040 |
| 826 | MLH1 | 3 | 0.99911933069133 | 2 | 2271 | 37067198, 37067408 |
| 827 | SCN5A | 3 | 0.9988113431822 | 7 | 5889 | 38592053, 38592059-38592062, 38622735, 38645408 |
| 828 | ABHD5 | 3 | 0.9552380952381 | 47 | 1050 | 43732485-43732531 |
| 829 | TMIE | 3 | 0.61873638344227 | 175 | 459 | 46742860-46743030, 46743041-46743044 |
| 830 | TMIE | 3 | 0.87898089171975 | 57 | 471 | 46742978-46743030, 46743041-46743044 |
| 831 | TREX1 | 3 | 0.98918918918919 | 12 | 1110 | 48508033-48508039, 48508087, 48508436, 48508447, 48508915-48508916 |
| 832 | COL7A1 | 3 | 0.98992642897566 | 89 | 8835 | 48602252, 48602631, 48607336-48607337, 48607343, 48612505-48612532, 48612779-48612787, 48612909-48612910, 48612916, 48612927, 48627035-48627043, 48627119-48627124, 48627135-48627151, 48629661-48629663, 48629669-48629671, 48629674-48629675, 48629678-48629680 |
| 833 | LAMB2 | 3 | 0.99592366129331 | 22 | 5397 | 49160369-49160370, 49162019, 49162712, 49162725, 49162880, 49162895, 49163236, 49166132, 49170017, 49170023-49170033, 49170047 |
| 834 | GNAT1 | 3 | 0.85849952516619 | 149 | 1053 | 50231077, 50231186-50231212, 50231235-50231283, 50231605-50231650, 50232198-50232199, 50232217-50232228, 50232237-50232244, 50232294-50232296, 50232337 |
| 835 | HYAL1 | 3 | 0.99694189602446 | 4 | 1308 | 50338455, 50338465, 50338468, 50338505 |
| 836 | RFT1 | 3 | 0.97109471094711 | 47 | 1626 | 53138090, 53156417-53156441, 53156454, 53156533-53156534, 53156543-53156548, 53157761-53157766, 53157772-53157777 |
| 837 | TKT | 3 | 0.93162393162393 | 128 | 1872 | 53262107-53262116, 53263083, 53275222-53275231, 53289852-53289958 |
| 838 | HESX1 | 3 | 0.9910394265233 | 5 | 558 | 57232225-57232226, 57232230, 57232237-57232238 |
| 839 | FLNB | 3 | 0.99564604943014 | 34 | 7809 | 57994361, 57994369, 57994372, 57994413, 57994416, 57994440-57994446, 57994470-57994476, 58109155, 58116555-58116563, 58116585-58116588, 58134054 |
| 840 | PDHB | 3 | 0.99814814814815 | 2 | 1080 | 58415445, 58419406 |
| 841 | ATXN7 | 3 | 0.87702607470049 | 349 | 2838 | 63898275-63898599, 63967981-63967991, 63968669-63968677, 63981832-63981835 |
| 842 | MITF | 3 | 0.98400511836212 | 25 | 1563 | 69788749-69788751, 69788760-69788774, 69788835, 69928423, 69998292, 69998296-69998299 |
| 843 | PROK2 | 3 | 0.92307692307692 | 30 | 390 | 71834142-71834166, 71834169, 71834172, 71834175-71834177 |
| 844 | ROBO2 | 3 | 0.99903311578438 | 4 | 4137 | 77637972, 77637988, 77651568, 77684124 |
| 845 | GBE1 | 3 | 0.99762920815552 | 5 | 2109 | 81754648, 81810605-81810607, 81810621 |
| 846 | PROS1 | 3 | 0.9891678975874 | 22 | 2031 | 93595861, 93595905, 93595944, 93629514, 93646238-93646244, 93692558-93692563, 93692587-93692591 |
| 847 | ARL13B | 3 | 0.998445998446 | 2 | 1287 | 93761994, 93762013 |
| 848 | CPOX | 3 | 0.86300366300366 | 187 | 1365 | 98311860-98311865, 98311886, 98311889, 98311945-98311968, 98311979-98311983, 98312080, 98312097, 98312104-98312121, 98312133-98312139, 98312145-98312251, 98312256-98312261, 98312271, 98312273-98312280, 98312308 |
| 849 | IQCB1 | 3 | 0.99888703394546 | 2 | 1797 | 121547317-121547318 |
| 850 | CASR | 3 | 0.99104108742663 | 29 | 3237 | 121976194-121976202, 122003454-122003464, 122003516, 122003605-122003607, 122003640-122003644 |
| 851 | RAB7A | 3 | 0.99839743589744 | 1 | 624 | 128525259 |
| 852 | GP9 | 3 | 0.84082397003745 | 85 | 534 | 128780710, 128780717-128780719, 128780892-128780894, 128780898-128780900, 128780903, 128780906, 128780909, 128780955-128780963, 128780968, 128780974-128780978, 128781012-128781061, 128781080-128781086 |
| 853 | RHO | 3 | 0.99522445081184 | 5 | 1047 | 129251379-129251383 |
| 854 | ATP2C1 | 3 | 0.99964912280702 | 1 | 2850 | 130716544 |
| 855 | NPHP3 | 3 | 0.93137991485099 | 274 | 3993 | 132438556-132438560, 132438564-132438565, 132438614-132438637, 132438645-132438656, 132438662-132438668, 132440849, 132440977-132441199 |
| 856 | PCCB | 3 | 0.9962962962963 | 6 | 1620 | 135969358, 135969364-135969365, 135969369, 135969371, 135969387 |
| 857 | FOXL2 | 3 | 0.34924845269673 | 736 | 1131 | 138664456, 138664540, 138664560-138664567, 138664577-138664582, 138664592-138664596, 138664602-138665068, 138665084-138665161, 138665175, 138665184-138665195, 138665201-138665224, 138665251-138665252, 138665261-138665262, 138665278-138665284, 138665287-138665288, 138665334-138665371, 138665380-138665407, 138665417-138665454, 138665465-138665472, 138665512, 138665520-138665521, 138665524-138665527, 138665564 |
| 858 | PLOD2 | 3 | 0.97189284145806 | 64 | 2277 | 145795690-145795702, 145799628, 145803055, 145804622-145804629, 145809597-145809611, 145828162, 145878734-145878758 |
| 859 | HPS3 | 3 | 0.98905472636816 | 33 | 3015 | 148847545-148847557, 148847564, 148847574, 148847579-148847585, 148847696-148847697, 148885762-148885770 |
| 860 | GFM1 | 3 | 0.9991134751773 | 2 | 2256 | 158399924, 158399928 |
| 861 | IFT80 | 3 | 0.99656357388316 | 8 | 2328 | 160075337-160075340, 160099325, 160099478-160099480 |
| 862 | BCHE | 3 | 0.99226091763405 | 14 | 1809 | 165503951-165503964 |
| 863 | SLC2A2 | 3 | 0.99428571428571 | 9 | 1575 | 170715733-170715734, 170716883, 170716891-170716893, 170720418, 170732436-170732437 |
| 864 | GHSR | 3 | 0.98001816530427 | 22 | 1101 | 172165788, 172165791, 172166079, 172166082-172166091, 172166102-172166107, 172166111, 172166116-172166117 |
| 865 | DNAJC19 | 3 | 0.99145299145299 | 3 | 351 | 180704769-180704771 |
| 866 | SOX2 | 3 | 0.84067085953878 | 152 | 954 | 181430159-181430161, 181430174, 181430183-181430185, 181430189-181430190, 181430202-181430208, 181430214-181430219, 181430225-181430230, 181430239-181430281, 181430294-181430295, 181430315, 181430357-181430363, 181430370, 181430374-181430377, 181430408-181430419, 181430426-181430445, 181430532-181430550, 181430570-181430572, 181430711, 181430805-181430809, 181430942-181430947 |
| 867 | MCCC1 | 3 | 0.99449035812672 | 12 | 2178 | 182759363-182759371, 182817217-182817218, 182817221 |
| 868 | KLHL6 | 3 | 0.997320471597 | 5 | 1866 | 183211985, 183245660-183245663 |
| 869 | EIF2B5 | 3 | 0.99953831948292 | 1 | 2166 | 183860306 |
| 870 | ALG3 | 3 | 0.98709187547456 | 17 | 1317 | 183966608-183966619, 183966624-183966625, 183966633-183966634, 183966669 |
| 871 | CLCN2 | 3 | 0.99666295884316 | 9 | 2697 | 184064482, 184064496, 184064506, 184072096, 184072351, 184072355-184072356, 184072359, 184079219 |
| 872 | TP63 | 3 | 0.99804209495839 | 4 | 2043 | 189526281, 189526284-189526286 |
| 873 | CCDC50 | 3 | 0.99861973775017 | 2 | 1449 | 191047495, 191075874 |
| 874 | OPA1 | 3 | 0.999343832021 | 2 | 3048 | 193355004, 193363383 |
| 875 | CPN2 | 3 | 0.9993894993895 | 1 | 1638 | 194062241 |
| 876 | PDE6B | 4 | 0.98440545808967 | 40 | 2565 | 619764, 650673, 656931-656937, 657577-657603, 657974-657977 |
| 877 | IDUA | 4 | 0.58103975535168 | 822 | 1962 | 980873-981005, 981637-981668, 981717, 994414, 995527-995535, 995794-995824, 995845-995879, 995897-995922, 996060, 996065-996074, 996093, 996165-996167, 996174-996196, 996215-996273, 996520-996732, 996824-996945, 997133-997206, 997338, 997348-997356, 997875-997900, 998099-998103, 998118, 998155-998158, 998178-998179 |
| 878 | FGFR3 | 4 | 0.83436341161928 | 402 | 2427 | 1795662-1795691, 1795705-1795711, 1795725-1795760, 1801018, 1803108-1803120, 1803130-1803134, 1803137-1803139, 1803142, 1803145-1803149, 1803211-1803244, 1803357, 1803443, 1803449, 1803452, 1803456, 1803465-1803470, 1803562-1803576, 1803592-1803599, 1803668, 1803701-1803729, 1804671, 1804673-1804675, 1804751, 1806651-1806666, 1806686-1806690, 1807095, 1807662, 1808560-1808568, 1808590-1808594, 1808602-1808607, 1808612-1808661, 1808843-1808850, 1808871-1808933, 1808939-1808944, 1808962-1808989 |
| 879 | SH3BP2 | 4 | 0.89122240172321 | 202 | 1857 | 2819951-2820117, 2822464, 2831345-2831363, 2831373-2831382, 2831503, 2831566, 2831570, 2831793, 2834728 |
| 880 | HTT | 4 | 0.95672923958002 | 408 | 9429 | 3076553-3076603, 3076604-3076780, 3076787-3076815, 3117903-3117909, 3123037, 3123078-3123080, 3129080-3129081, 3149809, 3201591-3201592, 3211607, 3213773-3213821, 3215751, 3215754, 3227415, 3227419, 3234893-3234926, 3234949-3234960, 3240279, 3240323-3240324, 3240545-3240546, 3240567-3240576, 3240666-3240679, 3241601-3241604, 3241699, 3241781 |
| 881 | DOK7 | 4 | 0.8957095709571 | 158 | 1515 | 3465103-3465156, 3465233-3465278, 3475166, 3475168-3475169, 3478075-3478080, 3478168-3478169, 3478172-3478176, 3478189, 3478204, 3478223, 3494675-3494681, 3494774-3494780, 3494789-3494790, 3494835, 3494840, 3494846-3494853, 3494863-3494867, 3494920, 3495149-3495155 |
| 882 | DOK7 | 4 | 0.94585448392555 | 32 | 591 | 3494675-3494681, 3494774-3494780, 3494789-3494790, 3494835, 3494840, 3494846-3494853, 3494863-3494867, 3494920 |
| 883 | MSX1 | 4 | 0.64583333333333 | 323 | 912 | 4861627-4861904, 4861921, 4861924-4861931, 4861945-4861951, 4861954-4861960, 4861964-4861966, 4862081, 4864509-4864519, 4864796, 4864812-4864817 |
| 884 | EVC2 | 4 | 0.97020626432391 | 117 | 3927 | 5570267-5570269, 5570275, 5570280, 5578077-5578082, 5578087, 5578096, 5578101-5578114, 5620246-5620255, 5642489-5642495, 5710063, 5710069-5710075, 5710086, 5710092-5710100, 5710106-5710110, 5710112-5710113, 5710120, 5710124, 5710126-5710127, 5710135-5710161, 5710206-5710214, 5710218-5710224, 5710234 |
| 885 | EVC | 4 | 0.92514266532393 | 223 | 2979 | 5713108-5713262, 5754731-5754733, 5754773-5754774, 5754777, 5755595-5755599, 5755636-5755639, 5795412, 5795418, 5798937, 5800377-5800381, 5800384-5800392, 5800451, 5800464-5800465, 5809964-5809987, 5810002-5810010 |
| 886 | WFS1 | 4 | 0.98316498316498 | 45 | 2673 | 6290815, 6302667, 6302670-6302671, 6303350, 6303444, 6303447, 6303522-6303523, 6303527, 6303546-6303551, 6303554, 6303574-6303578, 6303592, 6303596, 6303876-6303894, 6304154-6304155 |
| 887 | SLC2A9 | 4 | 0.99938385705484 | 1 | 1623 | 9909923 |
| 888 | CC2D2A | 4 | 0.99917746247173 | 4 | 4863 | 15482334, 15556784-15556785, 15591206 |
| 889 | PROM1 | 4 | 0.99153194765204 | 22 | 2598 | 15985941, 15995676-15995691, 16034983, 16077502-16077503, 16077512-16077513 |
| 890 | QDPR | 4 | 0.82721088435374 | 127 | 735 | 17493887-17493908, 17513573-17513677 |
| 891 | CNGA1 | 4 | 0.96535087719298 | 79 | 2280 | 47954600-47954614, 47954624, 47954627-47954632, 47954647-47954653, 47954662-47954664, 47954677, 47954687-47954702, 47972928, 47973052-47973080 |
| 892 | SGCB | 4 | 0.9644723092999 | 34 | 957 | 52895855, 52904393-52904425 |
| 893 | KIT | 4 | 0.98328215626066 | 49 | 2931 | 55524182-55524195, 55524203-55524209, 55524228-55524248, 55575664-55575670 |
| 894 | SLC4A4 | 4 | 0.99786910197869 | 7 | 3285 | 72205133-72205135, 72352727-72352729, 72352734 |
| 895 | COQ2 | 4 | 0.9047619047619 | 110 | 1155 | 84205697, 84205715-84205720, 84205739-84205742, 84205757-84205770, 84205776, 84205779-84205790, 84205802-84205807, 84205810-84205815, 84205827, 84205831, 84205834, 84205837-84205847, 84205853-84205855, 84205863, 84205866, 84205872, 84205878-84205882, 84205895-84205899, 84205902-84205903, 84205908-84205931, 84205953-84205956 |
| 896 | CDS1 | 4 | 0.97330447330447 | 37 | 1386 | 85504585, 85504605, 85504608, 85504616-85504618, 85504622, 85504632-85504637, 85555061, 85555077, 85556475, 85556495, 85560092, 85560096-85560103, 85560113-85560123 |
| 897 | PKD2 | 4 | 0.81355349157207 | 542 | 2907 | 88928886-88929412, 88929429-88929435, 88929471-88929475, 88929478-88929479, 88983127 |
| 898 | SNCA | 4 | 0.97163120567376 | 12 | 423 | 90749319-90749322, 90749333, 90756698, 90756701-90756702, 90756705-90756708 |
| 899 | MTTP | 4 | 0.99813780260708 | 5 | 2685 | 100530033, 100530036, 100530043-100530045 |
| 900 | MANBA | 4 | 0.9905303030303 | 25 | 2640 | 103610752-103610758, 103610841, 103611791-103611797, 103645109-103645111, 103681970-103681974, 103681999, 103682041 |
| 901 | CISD2 | 4 | 0.93872549019608 | 25 | 408 | 103790265, 103808506-103808522, 103808569-103808575 |
| 902 | TACR3 | 4 | 0.98354792560801 | 23 | 1398 | 104512651-104512656, 104512694-104512696, 104512720-104512721, 104640573-104640580, 104640715, 104640718-104640720 |
| 903 | HADH | 4 | 0.99470899470899 | 5 | 945 | 108911144-108911147, 108911173 |
| 904 | CFI | 4 | 0.99942922374429 | 1 | 1752 | 110673646 |
| 905 | GAR1 | 4 | 0.99847094801223 | 1 | 654 | 110745150 |
| 906 | PITX2 | 4 | 0.99692307692308 | 3 | 975 | 111542390, 111542397-111542398 |
| 907 | ANK2 | 4 | 0.99932625905339 | 8 | 11874 | 114171017, 114213601, 114213604-114213605, 114213630, 114213633, 114254278, 114263054 |
| 908 | BBS7 | 4 | 0.98975791433892 | 22 | 2148 | 122754438-122754445, 122766722-122766732, 122775873-122775874, 122775898 |
| 909 | MFSD8 | 4 | 0.99357739242132 | 10 | 1557 | 128859949-128859951, 128878663-128878669 |
| 910 | NR3C2 | 4 | 0.99729272419628 | 8 | 2955 | 149002506, 149075965-149075970, 149357475 |
| 911 | LRAT | 4 | 0.998556998557 | 1 | 693 | 155665948 |
| 912 | CTSO | 4 | 0.9223602484472 | 75 | 966 | 156849499, 156860583-156860584, 156863570, 156874865-156874909, 156874964-156874967, 156874978-156874999 |
| 913 | GLRB | 4 | 0.97991967871486 | 30 | 1494 | 158041713-158041717, 158041720-158041730, 158041738, 158041805-158041814, 158060022, 158073914-158073915 |
| 914 | ETFDH | 4 | 0.99892125134844 | 2 | 1854 | 159603405-159603406 |
| 915 | GK | 4 | 0.93682310469314 | 105 | 1662 | 166199162-166199168, 166199358-166199393, 166199423-166199432, 166199558-166199569, 166199584-166199609, 166200115-166200121, 166200757-166200763 |
| 916 | SLC25A4 | 4 | 0.87513935340022 | 112 | 897 | 186064527-186064637, 186067979 |
| 917 | F11 | 4 | 0.9989350372737 | 2 | 1878 | 187208838-187208839 |
| 918 | SDHA | 5 | 0.92280701754386 | 154 | 1995 | 218471-218533, 223682-223683, 228432-228438, 236584-236590, 236676-236678, 236681, 251108-251149, 251500-251506, 254526-254532, 254571-254577, 256469-256475, 256514 |
| 919 | SLC6A19 | 5 | 0.98792650918635 | 23 | 1905 | 1208964, 1208995-1209001, 1213636-1213637, 1213640-1213646, 1213654, 1213665, 1213668, 1214084, 1219682, 1219685 |
| 920 | TERT | 5 | 0.79435127978817 | 699 | 3399 | 1254594, 1264573, 1279524, 1280379-1280380, 1280384, 1293604-1293607, 1293714, 1293717, 1293732-1293767, 1293783-1293805, 1294046-1294065, 1294083-1294127, 1294217-1294254, 1294278-1294279, 1294358, 1294361-1294362, 1294366-1294368, 1294418-1294438, 1294451, 1294458, 1294466-1294470, 1294478-1294518, 1294553-1294781, 1294886-1295104 |
| 921 | SLC6A3 | 5 | 0.99731615673645 | 5 | 1863 | 1414811, 1414881-1414883, 1414886 |
| 922 | SDHA | 5 | 0.79510703363914 | 67 | 327 | 1593352-1593358, 1594510-1594569 |
| 923 | NDUFS6 | 5 | 0.98133333333333 | 7 | 375 | 1801532-1801537, 1801581 |
| 924 | MTRR | 5 | 0.99586776859504 | 9 | 2178 | 7869287-7869289, 7869294, 7869301, 7883293-7883296 |
| 925 | DNAH5 | 5 | 0.98904504504505 | 152 | 13875 | 13719022-13719025, 13810190-13810198, 13810207-13810248, 13810272-13810276, 13810285, 13810306, 13810320-13810325, 13810351-13810353, 13810356-13810357, 13811896, 13830835, 13841146-13841148, 13894894, 13894914-13894920, 13901461-13901465, 13916462-13916510, 13916546-13916548, 13919289, 13919292, 13919436-13919441, 13922307 |
| 926 | ANKH | 5 | 0.99323867478026 | 10 | 1479 | 14749298, 14758614, 14871461-14871467, 14871480 |
| 927 | FAM134B | 5 | 0.78982597054886 | 314 | 1494 | 16616767-16617080 |
| 928 | SLC45A2 | 5 | 0.99058380414313 | 15 | 1593 | 33984429-33984442, 33984445 |
| 929 | AMACR | 5 | 0.93733681462141 | 72 | 1149 | 33998751-33998755, 33998768, 34007886, 34007904, 34007908, 34007916-34007920, 34007926-34007952, 34007985-34008014, 34008100 |
| 930 | NIPBL | 5 | 0.99132501485443 | 73 | 8415 | 37036481-37036486, 37036491, 37036510, 37036523-37036524, 37036540-37036544, 37036547-37036582, 37044781, 37044803, 37048626, 37048661, 37048666-37048669, 37048705, 37048708-37048710, 37048736, 37048755-37048761, 37064020, 37064789 |
| 931 | LIFR | 5 | 0.99787492410443 | 7 | 3294 | 38484957, 38506140-38506144, 38506147 |
| 932 | OXCT1 | 5 | 0.99936020473448 | 1 | 1563 | 41853630 |
| 933 | GHR | 5 | 0.99895670318206 | 2 | 1917 | 42695072, 42695075 |
| 934 | FGF10 | 5 | 0.98564593301435 | 9 | 627 | 44388469, 44388472-44388473, 44388483, 44388486, 44388492, 44388504, 44388507, 44388510 |
| 935 | ITGA2 | 5 | 0.98420755781162 | 56 | 3546 | 52285301-52285351, 52351906, 52351910, 52379173, 52386426, 52386429 |
| 936 | MOCS2 | 5 | 0.99625468164794 | 1 | 267 | 52405549 |
| 937 | ERCC8 | 5 | 0.96137699412259 | 46 | 1191 | 60170454, 60170457-60170458, 60186755, 60200640, 60200667-60200669, 60200673-60200676, 60200683-60200691, 60217909-60217915, 60224783-60224786, 60240797-60240798, 60240801-60240806, 60240817, 60240820, 60240827-60240830 |
| 938 | SMN2 | 5 | 0.93333333333333 | 59 | 885 | 69345513-69345517, 69362945-69362961, 69372350-69372374, 69372387-69372398 |
| 939 | SMN2 | 5 | 0.96158192090395 | 34 | 885 | 70220931-70220935, 70238369-70238385, 70247807-70247818 |
| 940 | HEXB | 5 | 0.92100538599641 | 132 | 1671 | 73981088-73981154, 73981213-73981219, 73981223, 73981226, 73981229-73981245, 73981250-73981255, 73981263, 73981268-73981274, 73981280-73981283, 73981296-73981303, 73981349, 73981373-73981384 |
| 941 | AP3B1 | 5 | 0.9923896499239 | 25 | 3285 | 77411987-77411990, 77412005-77412007, 77412017-77412018, 77412027, 77524014, 77536752, 77536758-77536760, 77563404-77563410, 77563414-77563416 |
| 942 | ARSB | 5 | 0.80524344569288 | 312 | 1602 | 78280760-78281071 |
| 943 | VCAN | 5 | 0.99764498086547 | 24 | 10191 | 82834296-82834310, 82834318-82834320, 82834323-82834325, 82836426-82836428 |
| 944 | RASA1 | 5 | 0.93956743002545 | 190 | 3144 | 86564526-86564556, 86669980-86670137, 86672298 |
| 945 | MEF2C | 5 | 0.99085794655415 | 13 | 1422 | 88057107-88057110, 88057118-88057126 |
| 946 | GPR98 | 5 | 0.99408065112838 | 112 | 18921 | 89854713-89854716, 89854720, 89914972-89914974, 89914978-89914980, 89918426, 89925073-89925075, 89925149-89925155, 89933617-89933620, 89933623-89933624, 89981632, 89981680, 89981684, 90024548, 90059209-90059213, 90070037-90070039, 90079109, 90124929-90124935, 90144493-90144501, 90144554-90144561, 90144571-90144614, 90144619-90144620, 90149963 |
| 947 | PCSK1 | 5 | 0.99823165340407 | 4 | 2262 | 95743984, 95743996-95743997, 95764951 |
| 948 | WDR36 | 5 | 0.98494397759104 | 43 | 2856 | 110432795-110432796, 110436416, 110436419, 110441763, 110448773-110448781, 110448830-110448843, 110454711-110454722, 110459618-110459620 |
| 949 | APC | 5 | 0.99882794186592 | 10 | 8532 | 112111326, 112128188, 112157597-112157601, 112157624-112157625, 112177265 |
| 950 | HSD17B4 | 5 | 0.98959746720941 | 23 | 2211 | 118809615-118809619, 118809628-118809632, 118814572-118814576, 118814584, 118835207, 118861664-118861665, 118861688, 118861713-118861715 |
| 951 | HSD17B4 | 5 | 0.97872340425532 | 6 | 282 | 118861664-118861665, 118861688, 118861713-118861715 |
| 952 | ALDH7A1 | 5 | 0.99506172839506 | 8 | 1620 | 125890006-125890009, 125930802-125930805 |
| 953 | LMNB1 | 5 | 0.87507098239637 | 220 | 1761 | 126113201-126113205, 126113213-126113216, 126113225-126113226, 126113230, 126113238-126113274, 126113280, 126113285-126113311, 126113313-126113314, 126113367-126113413, 126113419-126113503, 126113552-126113559, 126168441 |
| 954 | FBN2 | 5 | 0.98249227600412 | 153 | 8739 | 127597446, 127597449, 127614412, 127614472, 127626478, 127626488-127626493, 127645688, 127654572, 127654610, 127654619-127654622, 127654671, 127700354-127700361, 127702098, 127702108, 127713482-127713488, 127728965-127728966, 127873046-127873080, 127873091-127873120, 127873143-127873144, 127873148, 127873151-127873152, 127873166-127873193, 127873200-127873216 |
| 955 | SLC22A5 | 5 | 0.9468339307049 | 89 | 1674 | 131705665-131705678, 131705699, 131705717, 131705782-131705831, 131705844-131705845, 131705885-131705891, 131705896, 131705902-131705903, 131705917-131705919, 131705923, 131705927-131705929, 131705936, 131705946, 131705949-131705950 |
| 956 | TGFBI | 5 | 0.95808966861598 | 86 | 2052 | 135364745, 135364756-135364757, 135364767-135364777, 135364807-135364878 |
| 957 | MYOT | 5 | 0.95457581830327 | 68 | 1497 | 137206560, 137221768-137221820, 137221837-137221840, 137221855, 137221867-137221872, 137222933-137222935 |
| 958 | SIL1 | 5 | 0.99422799422799 | 8 | 1386 | 138282877, 138282918-138282920, 138463507-138463510 |
| 959 | MATR3 | 5 | 0.99764150943396 | 6 | 2544 | 138643149-138643152, 138643174, 138651872 |
| 960 | SRA1 | 5 | 0.9887482419128 | 8 | 711 | 139930465, 139930470, 139930494-139930496, 139936797-139936799 |
| 961 | NDUFA2 | 5 | 0.97666666666667 | 7 | 300 | 140025247-140025253 |
| 962 | DIAPH1 | 5 | 0.94867766431003 | 196 | 3819 | 140953143-140953176, 140953242, 140953245, 140953249, 140953305-140953329, 140953339-140953342, 140953350, 140953364-140953371, 140953415-140953458, 140953473, 140953477, 140953489-140953490, 140953501-140953504, 140953507-140953518, 140953531, 140953541-140953544, 140953551-140953552, 140953555-140953568, 140953571-140953572, 140953575-140953578, 140954591-140954602, 140998390, 140998416-140998418, 140998421-140998423, 140998426-140998431, 140998468-140998472 |
| 963 | POU4F3 | 5 | 0.96656833824975 | 34 | 1017 | 145718770-145718773, 145719149-145719153, 145719295, 145719320-145719323, 145719328-145719335, 145719346-145719349, 145719577-145719579, 145719650-145719654 |
| 964 | PPP2R2B | 5 | 0.996996996997 | 4 | 1332 | 146077673-146077676 |
| 965 | SPINK5 | 5 | 0.99969558599696 | 1 | 3285 | 147466082 |
| 966 | SH3TC2 | 5 | 0.99844840961986 | 6 | 3867 | 148384420-148384421, 148384427, 148407391, 148407409-148407410 |
| 967 | PDE6A | 5 | 0.99728997289973 | 7 | 2583 | 149240493-149240498, 149274778 |
| 968 | TCOF1 | 5 | 0.98737373737374 | 55 | 4356 | 149737310-149737314, 149737322-149737329, 149737360, 149737385, 149737388-149737395, 149737405-149737415, 149748355, 149751763, 149751777, 149754322-149754332, 149755449-149755453, 149755777, 149755800 |
| 969 | GLRA1 | 5 | 0.97161572052402 | 39 | 1374 | 151239520-151239532, 151266315-151266326, 151304059-151304072 |
| 970 | ITK | 5 | 0.99785292538916 | 4 | 1863 | 156679629, 156679632-156679634 |
| 971 | NIPAL4 | 5 | 0.90149892933619 | 138 | 1401 | 156887212-156887230, 156887247-156887365 |
| 972 | GABRA1 | 5 | 0.99927060539752 | 1 | 1371 | 161324199 |
| 973 | NKX2-5 | 5 | 0.90564102564103 | 92 | 975 | 172659705, 172659919-172659921, 172660041-172660042, 172660054, 172660122-172660124, 172660127-172660132, 172660142-172660147, 172660149, 172660151-172660157, 172661839, 172661856-172661895, 172661898, 172661905-172661906, 172661986, 172661989, 172662003-172662015, 172662022-172662024 |
| 974 | MSX2 | 5 | 0.7363184079602 | 212 | 804 | 174151700-174151911 |
| 975 | NSD1 | 5 | 0.9987640588308 | 10 | 8091 | 176694571, 176694575, 176709577-176709582, 176719082, 176719085 |
| 976 | F12 | 5 | 0.9914089347079 | 5 | 582 | 176830282, 176830311, 176830317-176830319 |
| 977 | F12 | 5 | 0.96807359307359 | 59 | 1848 | 176830282, 176830311, 176830317-176830319, 176830528-176830561, 176830615-176830618, 176830993-176830999, 176831065-176831068, 176831077-176831081 |
| 978 | PROP1 | 5 | 0.99706314243759 | 2 | 681 | 177422876, 177422881 |
| 979 | NHP2 | 5 | 0.995670995671 | 2 | 462 | 177580759, 177580768 |
| 980 | GRM6 | 5 | 0.81169324221716 | 496 | 2634 | 178413323, 178413517-178413519, 178413542-178413547, 178413692-178413695, 178413885, 178413891-178413893, 178415951-178415954, 178416025-178416038, 178417632-178417635, 178417638-178417643, 178421452, 178421461, 178421483-178421485, 178421501-178421945 |
| 981 | SQSTM1 | 5 | 0.83219954648526 | 222 | 1323 | 179247937-179248141, 179260127-179260133, 179260142-179260145, 179260190-179260192, 179260195-179260197 |
| 982 | FLT4 | 5 | 0.91471163245357 | 349 | 4092 | 180038332-180038334, 180038339, 180038348-180038350, 180045770-180045789, 180045803-180045822, 180045825-180045829, 180045832-180045836, 180045847-180045850, 180045854, 180045868-180045871, 180045885-180045892, 180045908, 180045914-180045919, 180046021-180046109, 180046320-180046361, 180046740-180046744, 180046747, 180046750, 180047957, 180048145-180048158, 180048748, 180048760, 180050971-180050972, 180050983-180050987, 180051003, 180051042-180051046, 180051052, 180056696-180056720, 180057023-180057024, 180057027-180057032, 180057043-180057046, 180057102-180057105, 180076488-180076545 |
| 983 | FOXC1 | 6 | 0.27557160048135 | 1204 | 1662 | 1610681-1610807, 1610821-1610827, 1610832, 1610836-1610847, 1610856-1610861, 1610863-1610865, 1610871-1610883, 1610889-1610892, 1610897, 1610910, 1610960-1610961, 1610965, 1610970, 1610988-1611111, 1611128-1611150, 1611180-1611214, 1611262-1612068, 1612093-1612097, 1612115, 1612129-1612135, 1612146-1612168 |
| 984 | TUBB2B | 6 | 0.9372197309417 | 84 | 1338 | 3225038, 3225124, 3225155, 3225264, 3225271, 3225388, 3225442-3225495, 3225562-3225583, 3227721-3227722 |
| 985 | DSP | 6 | 0.99187558031569 | 70 | 8616 | 7542207-7542253, 7564001, 7564004-7564006, 7564018, 7581006, 7583602-7583610, 7586051-7586058 |
| 986 | TFAP2A | 6 | 0.98630136986301 | 18 | 1314 | 10398772, 10404755-10404756, 10404759-10404760, 10404765-10404767, 10410292, 10410341-10410344, 10410529, 10410541-10410542, 10410546, 10410549 |
| 987 | DTNBP1 | 6 | 0.95833333333333 | 44 | 1056 | 15533471, 15615587, 15663045-15663048, 15663061-15663070, 15663073-15663100 |
| 988 | ATXN1 | 6 | 0.95506535947712 | 110 | 2448 | 16306666-16306667, 16306669, 16306678-16306681, 16307051-16307065, 16327600, 16327829-16327831, 16327835, 16327859-16327860, 16327871-16327933, 16327936-16327953 |
| 989 | NHLRC1 | 6 | 0.91750841750842 | 98 | 1188 | 18122465, 18122545-18122547, 18122553, 18122666-18122677, 18122689-18122699, 18122712-18122736, 18122788-18122818, 18122824-18122837 |
| 990 | ALDH5A1 | 6 | 0.89192471159684 | 178 | 1647 | 24495266, 24495312-24495318, 24495325-24495420, 24495435-24495436, 24495441-24495470, 24495475, 24495480, 24495499-24495537, 24495558 |
| 991 | HLA-H | 6 | 0.83066666666667 | 127 | 750 | 29855846-29855850, 29855858, 29855861-29855880, 29855893-29855895, 29855901, 29855928, 29855940, 29855960-29855998, 29856273-29856279, 29856356-29856357, 29856361-29856362, 29856371, 29856421, 29856424-29856427, 29856433, 29856436, 29856439, 29856442-29856445, 29856453, 29856456, 29856481-29856508, 29856643, 29856686 |
| 992 | NEU1 | 6 | 0.99679487179487 | 4 | 1248 | 31829822-31829825 |
| 993 | TNXB | 6 | 0.92586832555728 | 143 | 1929 | 31976392-31976394, 31976916, 31976926, 31977142-31977170, 31977388-31977394, 31977525-31977555, 31977994-31978001, 31978498-31978517, 31979428-31979461, 31979476-31979482, 31979963, 31980000 |
| 994 | CYP21A2 | 6 | 0.88440860215054 | 172 | 1488 | 32006202-32006254, 32006317, 32006337, 32007404-32007410, 32007787-32007793, 32007843-32007849, 32007887, 32007956-32007970, 32008183-32008201, 32008448-32008454, 32008689-32008725, 32008749, 32008752, 32008893-32008907 |
| 995 | TNXB | 6 | 0.9860947442847 | 177 | 12729 | 32009648-32009664, 32009877-32009905, 32010123-32010129, 32010269-32010289, 32010728-32010735, 32011232-32011251, 32012300-32012336, 32012814-32012820, 32035476, 32035488, 32035492-32035495, 32040018, 32040023, 32040034-32040037, 32040046-32040050, 32056665, 32063954, 32064146, 32064149, 32064320, 32064330-32064332, 32064487, 32064503, 32064651-32064654 |
| 996 | HLA-DQA1 | 6 | 0.97265625 | 21 | 768 | 32610387-32610406, 32610436 |
| 997 | HLA-DQB1 | 6 | 0.78625954198473 | 168 | 786 | 32629224-32629234, 32629847, 32629859, 32629963, 32632575-32632651, 32632657-32632669, 32632688-32632742, 32632745, 32632748-32632752, 32632756, 32632818, 32632832 |
| 998 | COL11A2 | 6 | 0.95874112454423 | 215 | 5211 | 33132663-33132676, 33135221-33135232, 33135243-33135248, 33135254-33135255, 33137222-33137226, 33138113, 33138124-33138126, 33138132-33138135, 33138146-33138156, 33138334-33138337, 33139283, 33139520-33139529, 33139540, 33139544-33139553, 33139562-33139567, 33139570, 33139837, 33139843, 33140066-33140089, 33140112, 33140117-33140121, 33140130-33140151, 33140154-33140155, 33140334, 33140356, 33140358-33140367, 33140372-33140383, 33141657, 33141660, 33141680-33141703, 33159968, 33159977-33159979, 33159984-33159995, 33159998, 33160001 |
| 999 | SYNGAP1 | 6 | 0.87772817460317 | 493 | 4032 | 33388042-33388108, 33393575-33393680, 33399987-33400024, 33400547, 33400560, 33405795, 33405819-33405824, 33405829, 33408559-33408562, 33409062, 33409068, 33409071-33409072, 33409149, 33409465-33409472, 33410937-33410938, 33410959, 33410966-33410967, 33410970, 33410977, 33410982-33410988, 33411172-33411178, 33411203, 33411279-33411280, 33411432, 33411446, 33411473-33411698, 33411718, 33411722, 33419626 |
| 1000 | FANCE | 6 | 0.88019863438858 | 193 | 1611 | 35420323-35420431, 35420437-35420450, 35420461-35420509, 35420545-35420546, 35420555-35420563, 35420570, 35425343-35425350, 35425356 |
| 1001 | TULP1 | 6 | 0.94597912829957 | 88 | 1629 | 35473887, 35479497-35479532, 35479571-35479580, 35479964-35479973, 35479981, 35479998-35480005, 35480013-35480026, 35480029-35480032, 35480035-35480038 |
| 1002 | MOCS1 | 6 | 0.97488226059655 | 48 | 1911 | 39874259-39874296, 39874745, 39877624-39877632 |
| 1003 | TREM2 | 6 | 0.998556998557 | 1 | 693 | 41129181 |
| 1004 | GUCA1A | 6 | 0.996699669967 | 2 | 606 | 42146981-42146982 |
| 1005 | PRPH2 | 6 | 0.98270893371758 | 18 | 1041 | 42672153, 42672156, 42672163-42672167, 42672171-42672177, 42672180-42672183 |
| 1006 | PEX6 | 6 | 0.91199456337071 | 259 | 2943 | 42936672-42936673, 42936679, 42936697, 42946353, 42946358, 42946368, 42946388-42946389, 42946395, 42946432-42946433, 42946443-42946448, 42946457-42946459, 42946469-42946470, 42946477-42946485, 42946489-42946491, 42946532-42946741, 42946789, 42946812-42946820, 42946827-42946828, 42946831-42946832 |
| 1007 | CUL7 | 6 | 0.98999411418481 | 51 | 5097 | 43005654-43005658, 43005668-43005677, 43008803-43008805, 43008808, 43013007, 43013010, 43013326-43013329, 43016196-43016213, 43018948-43018955 |
| 1008 | RSPH9 | 6 | 0.90373044524669 | 80 | 831 | 43612840, 43612845-43612849, 43612851-43612855, 43612864-43612869, 43612873, 43612876-43612877, 43612886-43612887, 43612892-43612904, 43612907, 43612912-43612926, 43612958-43612965, 43612969, 43612973-43612981, 43613046, 43613049, 43613052, 43613058-43613060, 43618166, 43638573-43638576 |
| 1009 | RUNX2 | 6 | 0.86781609195402 | 207 | 1566 | 45390330-45390534, 45480049, 45480052 |
| 1010 | CD2AP | 6 | 0.99895833333333 | 2 | 1920 | 47563644, 47563648 |
| 1011 | MUT | 6 | 0.98135818908123 | 42 | 2253 | 49403282, 49409638-49409643, 49409646-49409648, 49409683-49409684, 49419397, 49419414, 49421320-49421333, 49421382, 49423938-49423950 |
| 1012 | PKHD1 | 6 | 0.99312883435583 | 84 | 12225 | 51484087-51484091, 51497426-51497463, 51768835, 51929789-51929828 |
| 1013 | EYS | 6 | 0.99915209326974 | 8 | 9435 | 66005970, 66044950, 66063510, 66200542-66200543, 66204615, 66204786, 66204789 |
| 1014 | LMBRD1 | 6 | 0.97720271102896 | 37 | 1623 | 70407455-70407456, 70423548, 70447840, 70506727-70506733, 70506748-70506773 |
| 1015 | COL9A1 | 6 | 0.98590021691974 | 39 | 2766 | 70972947-70972965, 70981381, 70981385-70981391, 70990533-70990534, 70990707-70990716 |
| 1016 | RIMS1 | 6 | 0.94703681827131 | 269 | 5079 | 72596735-72596737, 72596745, 72678686, 72678697, 72678703, 72678710-72678718, 72806837, 72892042, 72892052, 72892073-72892099, 72892120-72892147, 72892187-72892193, 72892257, 72892261, 72892289-72892292, 72892296, 72892299, 72892308-72892316, 72892323-72892331, 72892333-72892367, 72892370, 72892377, 72892382, 72892388-72892396, 72892404-72892452, 72892484, 72892489, 72892496, 72892510-72892524, 72892527, 72892588-72892592, 72892597-72892598, 72892612, 72892771, 72892781, 72892788, 72892791-72892799, 72945341, 72945426, 72945429, 72974692-72974699, 73001688-73001691, 73023315, 73108747-73108748, 73108755, 73108758-73108762, 73108775-73108776, 73108787 |
| 1017 | SLC17A5 | 6 | 0.93615591397849 | 95 | 1488 | 74331651, 74363516-74363609 |
| 1018 | MYO6 | 6 | 0.99585277345775 | 16 | 3858 | 76558139-76558153, 76602406 |
| 1019 | LCA5 | 6 | 0.99474689589303 | 11 | 2094 | 80196875, 80196932, 80196966, 80203435-80203442 |
| 1020 | ELOVL4 | 6 | 0.99047619047619 | 9 | 945 | 80656915-80656921, 80656986-80656987 |
| 1021 | BCKDHB | 6 | 0.97455470737913 | 30 | 1179 | 80816493-80816514, 80881055-80881062 |
| 1022 | SLC35A1 | 6 | 0.99802761341223 | 2 | 1014 | 88182729, 88182732 |
| 1023 | NDUFAF4 | 6 | 0.85984848484848 | 74 | 528 | 97338980-97339015, 97339028-97339064, 97339078 |
| 1024 | SIM1 | 6 | 0.98956975228162 | 24 | 2301 | 100868712-100868715, 100868725-100868730, 100896034-100896039, 100897488, 100897501-100897507 |
| 1025 | PDSS2 | 6 | 0.99916666666667 | 1 | 1200 | 107780311 |
| 1026 | SEC63 | 6 | 0.96276828734122 | 85 | 2283 | 108230154, 108243102, 108279091-108279098, 108279128-108279197, 108279209-108279213 |
| 1027 | OSTM1 | 6 | 0.93034825870647 | 70 | 1005 | 108366024-108366025, 108375789, 108395566-108395567, 108395600, 108395607, 108395669, 108395755-108395757, 108395762-108395768, 108395775-108395804, 108395810-108395818, 108395830, 108395835-108395843, 108395847, 108395854-108395855 |
| 1028 | FIG4 | 6 | 0.9996328928047 | 1 | 2724 | 110053884 |
| 1029 | WISP3 | 6 | 0.99910634495085 | 1 | 1119 | 112389585 |
| 1030 | COL10A1 | 6 | 0.9995105237396 | 1 | 2043 | 116442288 |
| 1031 | RSPH4A | 6 | 0.97164109716411 | 61 | 2151 | 116937976-116938012, 116938364-116938379, 116938387-116938389, 116938392, 116938403-116938406 |
| 1032 | GJA1 | 6 | 0.98868581375109 | 13 | 1149 | 121769097, 121769100-121769104, 121769107, 121769110, 121769113, 121769116-121769119 |
| 1033 | LAMA2 | 6 | 0.98889244900139 | 104 | 9363 | 129204396, 129204399, 129513887-129513888, 129513937-129513940, 129513943-129513944, 129513972, 129635852, 129635864, 129635875-129635881, 129635906-129635943, 129670499, 129670506-129670507, 129670524-129670526, 129670529, 129674442-129674452, 129674457, 129674462-129674472, 129704305-129704308, 129824395-129824406 |
| 1034 | ARG1 | 6 | 0.98658410732714 | 13 | 969 | 131904292-131904304 |
| 1035 | ENPP1 | 6 | 0.92656587473002 | 204 | 2778 | 132129176-132129278, 132129306-132129315, 132129320-132129325, 132129348-132129354, 132129364-132129369, 132129372, 132171210, 132203485-132203490, 132203497, 132203510-132203548, 132203554-132203568, 132207702-132207710 |
| 1036 | EYA4 | 6 | 0.99583333333333 | 8 | 1920 | 133767820-133767825, 133783602-133783603 |
| 1037 | AHI1 | 6 | 0.99972152603732 | 1 | 3591 | 135759579 |
| 1038 | PEX7 | 6 | 0.88271604938272 | 114 | 972 | 137143804-137143916, 137143928 |
| 1039 | IFNGR1 | 6 | 0.99591836734694 | 6 | 1470 | 137519703-137519706, 137524716-137524717 |
| 1040 | PEX3 | 6 | 0.99643493761141 | 4 | 1122 | 143792122-143792123, 143792126, 143792586 |
| 1041 | PLAGL1 | 6 | 0.9985632183908 | 2 | 1392 | 144263606-144263607 |
| 1042 | STX11 | 6 | 0.88657407407407 | 98 | 864 | 144507806-144507813, 144507824-144507846, 144507966-144507976, 144507995, 144507998-144508000, 144508014, 144508103, 144508365-144508374, 144508377-144508380, 144508396-144508402, 144508600-144508628 |
| 1043 | EPM2A | 6 | 0.69678714859438 | 302 | 996 | 145956386, 146056334-146056634 |
| 1044 | IYD | 6 | 0.97931034482759 | 18 | 870 | 150719235-150719237, 150719245, 150719253, 150719258-150719263, 150719308-150719309, 150719312-150719314, 150719319-150719320 |
| 1045 | SYNE1 | 6 | 0.99443055239827 | 147 | 26394 | 152454416, 152454556-152454565, 152454568, 152454572-152454573, 152457789-152457790, 152461139-152461141, 152461146-152461152, 152461155-152461156, 152461161-152461164, 152461167-152461175, 152462391-152462404, 152532674, 152532692, 152532698, 152545714-152545716, 152545779-152545782, 152545786, 152545795-152545799, 152558023, 152558026, 152558036-152558040, 152603082-152603084, 152630985, 152631574, 152644670, 152644704-152644705, 152644724, 152644728-152644736, 152644758-152644765, 152665286-152665292, 152665297-152665304, 152702444-152702449, 152702455, 152712418-152712423, 152720766-152720769, 152725429-152725431, 152725441-152725446, 152728188, 152749498 |
| 1046 | PARK2 | 6 | 0.98283261802575 | 24 | 1398 | 161969935-161969938, 161969945, 161969948-161969952, 161969967, 161969972-161969976, 162683595, 163148694-163148700 |
| 1047 | TBP | 6 | 0.90392156862745 | 98 | 1020 | 170871010-170871013, 170871021-170871024, 170871032-170871108, 170871113-170871118, 170871129-170871135 |
| 1048 | LFNG | 7 | 0.67894736842105 | 366 | 1140 | 2559496-2559850, 2559880-2559881, 2559886, 2559908, 2564357, 2564898-2564899, 2565092, 2565983, 2565993, 2566014 |
| 1049 | PMS2 | 7 | 0.98261877172654 | 45 | 2589 | 6013084, 6013150-6013157, 6022477, 6022485-6022486, 6026988, 6029443-6029450, 6036985-6036986, 6043603-6043624 |
| 1050 | TWIST1 | 7 | 0.35960591133005 | 390 | 609 | 19156555-19156944 |
| 1051 | DNAH11 | 7 | 0.99358974358974 | 87 | 13572 | 21582926, 21583030, 21583039, 21583201-21583214, 21630907-21630916, 21630922-21630930, 21630938, 21630944-21630948, 21630951, 21882308-21882322, 21894018-21894046 |
| 1052 | DFNA5 | 7 | 0.98859825620389 | 17 | 1491 | 24742427-24742428, 24742431-24742440, 24758791, 24758795, 24758800-24758801, 24758818 |
| 1053 | HOXA1 | 7 | 0.98809523809524 | 12 | 1008 | 27135314-27135321, 27135344, 27135397, 27135401-27135402 |
| 1054 | HOXA13 | 7 | 0.51756640959726 | 563 | 1167 | 27238888-27238918, 27238922-27238926, 27239030-27239031, 27239087, 27239102-27239115, 27239187-27239696 |
| 1055 | GARS | 7 | 0.96396396396396 | 80 | 2220 | 30634570-30634602, 30634661, 30634679-30634724 |
| 1056 | RP9 | 7 | 0.77177177177177 | 152 | 666 | 33148833-33148984 |
| 1057 | BBS9 | 7 | 0.99774774774775 | 6 | 2664 | 33296922, 33303926-33303929, 33303950 |
| 1058 | GLI3 | 7 | 0.92620704195657 | 350 | 4743 | 42004485, 42004652, 42004788-42004815, 42004891-42004896, 42005077-42005083, 42005103-42005129, 42005222-42005244, 42005250, 42005256, 42005265-42005266, 42005320, 42005511, 42005515-42005522, 42005528-42005533, 42005544-42005550, 42005556-42005636, 42005640-42005642, 42005651-42005653, 42005658-42005659, 42005678-42005680, 42005683, 42005687-42005688, 42005710, 42005729-42005731, 42005771-42005802, 42005848, 42005853, 42005876, 42005880, 42005888, 42005898-42005900, 42005925, 42005938-42005962, 42006045-42006093, 42006217, 42007472-42007480, 42187896-42187901 |
| 1059 | GCK | 7 | 0.99214846538187 | 11 | 1401 | 44185191, 44185212, 44185215-44185216, 44186080-44186084, 44186096, 44192915 |
| 1060 | CCM2 | 7 | 0.95880149812734 | 55 | 1335 | 45039933-45039962, 45077978, 45113137-45113152, 45113157, 45113160, 45113911, 45113915-45113918, 45113922 |
| 1061 | DDC | 7 | 0.999306999307 | 1 | 1443 | 50597001 |
| 1062 | GRB10 | 7 | 0.99775910364146 | 4 | 1785 | 50663155-50663156, 50673029, 50771532 |
| 1063 | EGFR | 7 | 0.96421690063309 | 130 | 3633 | 55086971-55087058, 55214314-55214320, 55214348, 55214369, 55214381, 55220265, 55220279, 55220282, 55220286-55220291, 55229240-55229262 |
| 1064 | GUSB | 7 | 0.99028629856851 | 19 | 1956 | 65446967, 65446970-65446973, 65446998, 65447018, 65447033, 65447060, 65447067-65447069, 65447132, 65447136, 65447139-65447140, 65447150, 65447169-65447170 |
| 1065 | ASL | 7 | 0.90035842293907 | 139 | 1395 | 65551807-65551808, 65553846, 65553886, 65553891, 65554078-65554142, 65554151-65554156, 65554161-65554162, 65554263-65554297, 65554320-65554322, 65557829-65557851 |
| 1066 | KCTD7 | 7 | 0.83448275862069 | 144 | 870 | 66094052-66094195 |
| 1067 | SBDS | 7 | 0.9933598937583 | 5 | 753 | 66460277-66460281 |
| 1068 | NCF1 | 7 | 0.93090909090909 | 57 | 825 | 72640033-72640040, 72643704-72643710, 72645924-72645930, 72648716-72648750 |
| 1069 | ELN | 7 | 0.96873563218391 | 68 | 2175 | 73442525-73442568, 73442586, 73457004-73457006, 73466266-73466271, 73466283-73466285, 73466288-73466290, 73477672-73477674, 73477677, 73480275-73480278 |
| 1070 | NCF1 | 7 | 0.79539641943734 | 240 | 1173 | 74191613-74191619, 74193642, 74193645, 74193668, 74197911-74197917, 74202396-74202432, 74202903, 74202917-74202943, 74202954-74203048, 74203383-74203444, 74203504 |
| 1071 | POR | 7 | 0.93881546744983 | 125 | 2043 | 75610447-75610453, 75614153, 75614209-75614214, 75614231, 75614237-75614244, 75614247, 75614252-75614265, 75614276, 75614421-75614430, 75614434-75614459, 75614465-75614487, 75614505-75614525, 75614999-75615003, 75615156 |
| 1072 | HSPB1 | 7 | 0.86893203883495 | 81 | 618 | 75932061, 75932065, 75932080, 75932170-75932174, 75932194, 75932203-75932204, 75932232-75932234, 75932276-75932327, 75932336, 75932340, 75932345, 75932359-75932366, 75932391-75932393, 75933441 |
| 1073 | CD36 | 7 | 0.99859055673009 | 2 | 1419 | 80285976-80285977 |
| 1074 | HGF | 7 | 0.98353909465021 | 36 | 2187 | 81399248-81399250, 81399255-81399287 |
| 1075 | ABCB4 | 7 | 0.99479166666667 | 20 | 3840 | 87031470-87031482, 87037419-87037425 |
| 1076 | AKAP9 | 7 | 0.99368816103719 | 74 | 11724 | 91609604, 91609611, 91609618, 91609625, 91609629-91609633, 91609636-91609638, 91625102, 91630241-91630268, 91674405, 91691761-91691762, 91694640, 91700260, 91706245, 91706289, 91712683-91712686, 91714911-91714912, 91714915-91714918, 91714924, 91722435-91722437, 91732046-91732049, 91732086-91732093 |
| 1077 | KRIT1 | 7 | 0.99864314789688 | 3 | 2211 | 91844042-91844043, 91852217 |
| 1078 | PEX1 | 7 | 0.98494288681205 | 58 | 3852 | 92122373, 92140308-92140320, 92148335, 92157621-92157631, 92157645-92157675, 92157731 |
| 1079 | COL1A2 | 7 | 0.97317727383565 | 110 | 4101 | 94030908, 94030914, 94030916-94030932, 94033911-94033912, 94037167, 94040400, 94047066, 94049548, 94049563, 94049566, 94049715-94049719, 94050338, 94052379, 94056500-94056505, 94056572-94056607, 94058562-94058570, 94058581-94058591, 94058705-94058707, 94058711, 94058716, 94058719-94058723, 94058739-94058742 |
| 1080 | SGCE | 7 | 0.98377581120944 | 22 | 1356 | 94230055-94230060, 94248130, 94252652-94252654, 94252658-94252659, 94252663, 94285303-94285305, 94285402-94285407 |
| 1081 | SLC25A13 | 7 | 0.97144263909404 | 58 | 2031 | 95750998, 95751009-95751011, 95751287-95751306, 95799357-95799370, 95820472-95820476, 95951254-95951268 |
| 1082 | TFR2 | 7 | 0.9592684954281 | 98 | 2406 | 100218664-100218667, 100218691, 100224508-100224526, 100224941, 100224944, 100224953, 100225860-100225863, 100228637, 100230665-100230669, 100230690-100230695, 100230699, 100230710-100230711, 100230714, 100230717, 100230720-100230726, 100230902-100230914, 100231047-100231072, 100238659-100238661, 100239122 |
| 1083 | SLC26A5 | 7 | 0.99642058165548 | 8 | 2235 | 103017276, 103017281, 103017290-103017295 |
| 1084 | RELN | 7 | 0.99383251421413 | 64 | 10377 | 103191590-103191592, 103191622-103191631, 103191653-103191656, 103191662, 103191669-103191675, 103234799, 103234803, 103234808-103234809, 103244837-103244848, 103629696, 103629699, 103629734, 103629740-103629745, 103629748-103629750, 103629775-103629781, 103629800-103629803 |
| 1085 | SLC26A4 | 7 | 0.97012377294067 | 70 | 2343 | 107302087-107302124, 107302135-107302141, 107323647-107323662, 107323700, 107323950, 107323960, 107323964, 107323976-107323977, 107329499, 107329504, 107329507 |
| 1086 | SLC26A3 | 7 | 0.99477124183007 | 12 | 2295 | 107408283-107408290, 107414419, 107432347, 107432361, 107432372 |
| 1087 | IFRD1 | 7 | 0.96165191740413 | 52 | 1356 | 112090786, 112090792-112090797, 112090812-112090817, 112090821-112090837, 112102133, 112102150-112102169, 112102172 |
| 1088 | MET | 7 | 0.99640546369518 | 15 | 4173 | 116397802-116397816 |
| 1089 | CFTR | 7 | 0.97681746567634 | 103 | 4443 | 117144320, 117144344-117144345, 117188713-117188753, 117188760-117188800, 117188841-117188853, 117234997, 117235048-117235050, 117251787 |
| 1090 | AASS | 7 | 0.99280834232291 | 20 | 2781 | 121758466-121758469, 121769523-121769538 |
| 1091 | IMPDH1 | 7 | 0.86388888888889 | 245 | 1800 | 128045821-128045919, 128049810-128049955 |
| 1092 | FLNC | 7 | 0.96906334067009 | 253 | 8178 | 128470692-128470725, 128470774-128470798, 128470813-128470828, 128470838, 128470841, 128470847-128470857, 128470868-128470881, 128470892-128470939, 128471004-128471025, 128475521, 128477257-128477274, 128477281-128477311, 128477561, 128477599, 128482639-128482640, 128482676-128482677, 128482683-128482688, 128482692, 128482741, 128488663, 128488672, 128488687-128488690, 128492772, 128498187-128498193, 128498432-128498434 |
| 1093 | ATP6V0A4 | 7 | 0.95323028141102 | 118 | 2523 | 138394371-138394379, 138394382, 138394387, 138394390-138394391, 138394397, 138394430-138394463, 138394477-138394521, 138437370-138437390, 138437425-138437428 |
| 1094 | BRAF | 7 | 0.95393307257714 | 106 | 2301 | 140434541, 140434567-140434570, 140494199, 140624379-140624436, 140624462-140624503 |
| 1095 | PRSS1 | 7 | 0.85752688172043 | 106 | 744 | 142458434-142458454, 142459625-142459629, 142459664-142459682, 142459868-142459878, 142460313, 142460335, 142460339, 142460366-142460397, 142460733-142460747 |
| 1096 | CLCN1 | 7 | 0.98887765419616 | 33 | 2967 | 143017807, 143020435-143020436, 143042687-143042703, 143042753, 143043308, 143043319, 143043324, 143043327, 143043331-143043333, 143043336-143043340 |
| 1097 | CNTNAP2 | 7 | 0.97322322322322 | 107 | 3996 | 145813969-145814010, 145814023-145814033, 146741005-146741016, 146741019-146741020, 147869355-147869357, 147914465-147914501 |
| 1098 | KCNH2 | 7 | 0.69597701149425 | 1058 | 3480 | 150643974-150643980, 150644044, 150644072, 150644086, 150644127-150644142, 150644416-150644436, 150644460-150644472, 150644478, 150644482, 150644490-150644491, 150644496-150644500, 150644528-150644602, 150644694-150644834, 150644849, 150644901-150644942, 150645534, 150645537-150645542, 150645545, 150645556, 150645591-150645599, 150645603, 150648140, 150648664-150648666, 150648685-150648689, 150648843, 150648876-150648923, 150654411, 150654543, 150655161-150655163, 150655167-150655169, 150655177, 150655180-150655188, 150655209-150655560, 150671823-150672029, 150674926-150675001 |
| 1099 | PRKAG2 | 7 | 0.95789473684211 | 72 | 1710 | 151329155-151329224, 151573615, 151573627 |
| 1100 | SHH | 7 | 0.58243340532757 | 580 | 1389 | 155595594-155596067, 155596073-155596119, 155596151-155596159, 155596179, 155596185, 155596189-155596191, 155596198-155596203, 155596206-155596207, 155596212-155596228, 155596239, 155596301-155596317, 155596344, 155596357 |
| 1101 | MNX1 | 7 | 0.18242122719735 | 986 | 1206 | 156798214-156798456, 156798466-156798506, 156798540-156798567, 156799202-156799218, 156799249-156799294, 156799304-156799325, 156802387-156802390, 156802393, 156802396-156802397, 156802403-156802408, 156802413-156802432, 156802454-156802463, 156802473, 156802485, 156802488-156802493, 156802507-156803044 |
| 1102 | MCPH1 | 8 | 0.99760765550239 | 6 | 2508 | 6264206-6264210, 6299598 |
| 1103 | GATA4 | 8 | 0.62904439428141 | 493 | 1329 | 11565835-11565838, 11565878-11565922, 11565952-11565956, 11565966-11565969, 11565986-11566362, 11566376-11566379, 11566390-11566392, 11566397-11566400, 11566405, 11566411-11566417, 11614520-11614552, 11614577-11614582 |
| 1104 | TUSC3 | 8 | 0.91881566380134 | 85 | 1047 | 15397954, 15397958, 15397967-15398046, 15398049-15398051 |
| 1105 | ASAH1 | 8 | 0.98989898989899 | 12 | 1188 | 17915080, 17924754, 17941502, 17941506, 17941517-17941520, 17941523-17941526 |
| 1106 | LPL | 8 | 0.99859943977591 | 2 | 1428 | 19810849, 19810853 |
| 1107 | NEFL | 8 | 0.90747549019608 | 151 | 1632 | 24813053, 24813139-24813140, 24813199-24813205, 24813215-24813260, 24813398-24813403, 24813407, 24813411, 24813416-24813432, 24813443, 24813447, 24813540, 24813544, 24813551-24813555, 24813558, 24813641-24813675, 24813684-24813708 |
| 1108 | CHRNA2 | 8 | 0.95031446540881 | 79 | 1590 | 27320519-27320521, 27320581-27320627, 27320646-27320655, 27320843-27320846, 27320857-27320859, 27320874-27320876, 27320879, 27320899-27320900, 27321077-27321081, 27327343 |
| 1109 | ESCO2 | 8 | 0.98726467331118 | 23 | 1806 | 27633928-27633935, 27634467-27634470, 27637756, 27660879-27660886, 27660946-27660947 |
| 1110 | FGFR1 | 8 | 0.99918798213561 | 2 | 2463 | 38287239, 38287444 |
| 1111 | ADAM9 | 8 | 0.99065040650406 | 23 | 2460 | 38854612, 38854669-38854675, 38880763-38880767, 38880788-38880795, 38959441-38959442 |
| 1112 | ANK1 | 8 | 0.97541271513874 | 140 | 5694 | 41554221-41554227, 41561590, 41563685, 41563688, 41572530, 41572533, 41583397, 41583421, 41753873-41753998 |
| 1113 | THAP1 | 8 | 0.97507788161994 | 16 | 642 | 42693251-42693263, 42698219-42698221 |
| 1114 | HGSNAT | 8 | 0.92557651991614 | 142 | 1908 | 42995640-42995757, 43024348-43024357, 43025787-43025791, 43025805-43025807, 43025811, 43025813-43025814, 43047524, 43047531-43047532 |
| 1115 | RP1 | 8 | 0.99845464379539 | 10 | 6471 | 55533634-55533636, 55533918, 55533921-55533922, 55533936-55533939 |
| 1116 | CHD7 | 8 | 0.99577496108517 | 38 | 8994 | 61654430, 61654488-61654489, 61654492, 61734381, 61734451, 61734583-61734585, 61734587-61734591, 61748719-61748723, 61748726, 61749490, 61777697-61777700, 61778283-61778288, 61778298-61778301, 61778305-61778307 |
| 1117 | TTPA | 8 | 0.75627240143369 | 204 | 837 | 63998377-63998580 |
| 1118 | CYP7B1 | 8 | 0.9197896120973 | 122 | 1521 | 65711023-65711144 |
| 1119 | EYA1 | 8 | 0.99887577290613 | 2 | 1779 | 72211328, 72211343 |
| 1120 | TMEM70 | 8 | 0.89655172413793 | 81 | 783 | 74888517-74888570, 74888607-74888613, 74888616-74888627, 74888640-74888646, 74888649 |
| 1121 | CA2 | 8 | 0.95657726692209 | 34 | 783 | 86376311-86376344 |
| 1122 | NBN | 8 | 0.98278145695364 | 39 | 2265 | 90967545-90967552, 90983450-90983468, 90983482-90983485, 90996763-90996769, 90996777 |
| 1123 | DECR1 | 8 | 0.99603174603175 | 4 | 1008 | 91057154-91057157 |
| 1124 | TMEM67 | 8 | 0.9946452476573 | 16 | 2988 | 94777663-94777666, 94777672-94777675, 94777685-94777686, 94777693-94777695, 94777819, 94777822, 94827549 |
| 1125 | GDF6 | 8 | 0.52558479532164 | 649 | 1368 | 97156898-97156929, 97156935-97156948, 97156986-97156987, 97157005, 97157008, 97157021, 97157033, 97157036-97157038, 97157069, 97157153-97157175, 97157183-97157190, 97157202-97157676, 97157740, 97157748, 97172646, 97172663, 97172676, 97172698-97172699, 97172709, 97172727-97172746, 97172788, 97172813-97172817, 97172831, 97172845-97172889, 97172893, 97172896, 97172908, 97172917-97172920 |
| 1126 | VPS13B | 8 | 0.99474737368684 | 63 | 11994 | 100108587, 100123365, 100123397, 100123405-100123406, 100123409-100123434, 100123437, 100146926-100146930, 100160069-100160071, 100494004-100494008, 100513925, 100513934-100513936, 100513948, 100523673-100523677, 100654627-100654632, 100844597-100844598 |
| 1127 | GRHL2 | 8 | 0.99574014909478 | 8 | 1878 | 102555624-102555627, 102631791-102631794 |
| 1128 | RRM2B | 8 | 0.99905303030303 | 1 | 1056 | 103231153 |
| 1129 | DPYS | 8 | 0.83525641025641 | 257 | 1560 | 105478885-105479122, 105479130-105479148 |
| 1130 | TRPS1 | 8 | 0.997425997426 | 10 | 3885 | 116599455-116599460, 116617034-116617037 |
| 1131 | EXT1 | 8 | 0.99643016510486 | 8 | 2241 | 119122637-119122644 |
| 1132 | TNFRSF11B | 8 | 0.99419568822554 | 7 | 1206 | 119945249, 119964032, 119964039-119964043 |
| 1133 | KIAA0196 | 8 | 0.99511494252874 | 17 | 3480 | 126091156-126091172 |
| 1134 | KCNQ3 | 8 | 0.92668957617411 | 192 | 2619 | 133492469-133492474, 133492496, 133492544-133492625, 133492635-133492649, 133492674-133492681, 133492700-133492779 |
| 1135 | TG | 8 | 0.99891657638137 | 9 | 8307 | 133882071, 133883722, 133900303-133900305, 133909972-133909974, 133912565 |
| 1136 | NDRG1 | 8 | 0.957805907173 | 50 | 1185 | 134251145-134251152, 134251214, 134251228-134251233, 134251247-134251249, 134274292-134274318, 134274325-134274329 |
| 1137 | CYP11B1 | 8 | 0.92261904761905 | 117 | 1512 | 143956373-143956385, 143956653-143956657, 143956662, 143957195-143957239, 143958512-143958533, 143958572-143958602 |
| 1138 | CYP11B2 | 8 | 0.84722222222222 | 231 | 1512 | 143993946-143994005, 143994026-143994075, 143994263-143994293, 143994701-143994702, 143994712, 143994724, 143994768-143994786, 143996314-143996315, 143996536-143996569, 143996595-143996625 |
| 1139 | PLEC | 8 | 0.73660618996798 | 3702 | 14055 | 144990392-144990399, 144990404, 144990410, 144990460, 144990482-144990483, 144990489-144990493, 144990502-144990514, 144990533-144990540, 144990580-144990585, 144990591-144990604, 144990609-144990610, 144990717-144990737, 144990742-144990763, 144990766, 144990771, 144990774-144990785, 144990803-144990805, 144990833-144990837, 144990840-144990841, 144990864, 144990868-144990869, 144991048-144991054, 144991647, 144991966-144991981, 144992003-144992006, 144992020, 144992331-144992333, 144992361, 144992366, 144992379, 144992384, 144992399-144992400, 144992403-144992405, 144992410-144992414, 144992535-144992536, 144992558-144992560, 144992588-144992596, 144992599-144992618, 144992702-144992743, 144992792-144992794, 144992805-144992828, 144992970, 144993064, 144993069-144993070, 144993074, 144993235, 144993376-144993378, 144993385, 144993392, 144993487, 144993591-144993619, 144993713, 144993717, 144993720-144993722, 144993736, 144993753, 144993884-144993893, 144993934-144993973, 144994018, 144994021-144994022, 144994070-144994071, 144994199-144994239, 144994357, 144994386, 144994391-144994403, 144994458-144994460, 144994463-144994464, 144994469, 144994479, 144994584-144994588, 144994594, 144994726-144994757, 144994967-144994971, 144994980-144994982, 144994985-144994988, 144995007-144995049, 144995057-144995084, 144995102-144995108, 144995361, 144995384-144995387, 144995391, 144995395, 144995537-144995580, 144995675-144995678, 144995736, 144995748-144995750, 144995789, 144995803-144995804, 144995820-144995837, 144996166-144996167, 144996189, 144996206-144996209, 144996220-144996265, 144996379-144996411, 144996526-144996539, 144996543-144996550, 144996677-144996729, 144996760-144996764, 144996776, 144996794, 144996830-144996858, 144996939-144996963, 144996975-144996978, 144996986-144996996, 144997014-144997040, 144997078-144997153, 144997170-144997189, 144997232-144997235, 144997254, 144997367-144997368, 144997376-144997378, 144997427-144997488, 144997498-144997517, 144997522-144997523, 144997564, 144997578, 144997609-144997612, 144997622-144997631, 144997675-144997677, 144997680-144997689, 144997704, 144997717, 144997748-144997794, 144997806-144998029, 144998046-144998118, 144998125, 144998128-144998129, 144998135-144998140, 144998153, 144998155-144998156, 144998161, 144998164-144998171, 144998174, 144998190, 144998200-144998206, 144998216-144998230, 144998243, 144998246, 144998254-144998264, 144998269-144998275, 144998280-144998291, 144998308-144998314, 144998329-144998344, 144998353-144998365, 144998368-144998381, 144998387-144998483, 144998491-144998509, 144998557-144998587, 144998612-144998660, 144998676-144998733, 144998750-144998822, 144998834-144998981, 144998990-144998994, 144998998, 144999004-144999005, 144999011, 144999026-144999094, 144999120-144999711, 144999719-144999943, 144999957-144999967, 144999972-144999973, 144999977-144999983, 144999992-144999993, 145000006-145000009, 145000016, 145000019-145000024, 145000033-145000039, 145001031, 145001578-145001598, 145001652-145001663, 145001670-145001682, 145001688, 145001705-145001712, 145001720-145001733, 145001738, 145001744, 145001876, 145001880-145001882, 145001890, 145001927-145001928, 145002071-145002074, 145003271-145003277, 145003284-145003434, 145003448-145003449, 145003582-145003607, 145003634-145003680, 145003713, 145003814-145003851, 145003864-145003891, 145003945-145003948, 145003961-145003997, 145004146, 145004150, 145004181-145004186, 145004213, 145004216, 145004317-145004323, 145004329-145004336, 145004347-145004351, 145004362-145004387, 145004399, 145004461-145004465, 145004554, 145004565-145004567, 145004580-145004590, 145005715, 145005723-145005729, 145005816, 145005824-145005827, 145006192-145006196, 145006199-145006200, 145006310-145006317, 145006323-145006341, 145006362-145006379, 145006389-145006391, 145006398, 145006402, 145006603-145006622, 145006669, 145006680, 145006684, 145006803-145006835, 145006866, 145007006-145007021, 145007035-145007039, 145007119-145007122, 145007153, 145007156, 145008168, 145008174-145008182, 145008193, 145008258-145008259, 145008501, 145009087, 145009090, 145009092, 145010121, 145010124-145010125, 145024708, 145024718, 145024721, 145024724-145024727 |
| 1140 | GPT | 8 | 0.70221327967807 | 444 | 1491 | 145730629-145730674, 145730685, 145730767-145730770, 145730781, 145730794-145730803, 145730871-145730872, 145731235-145731310, 145731378-145731383, 145731399-145731433, 145731439-145731514, 145731616-145731622, 145731668-145731728, 145731884-145731945, 145731953-145731957, 145731960, 145731966-145731968, 145731975-145731976, 145731998-145732039, 145732294, 145732303-145732305 |
| 1141 | RECQL4 | 8 | 0.89081885856079 | 396 | 3627 | 145737816, 145737881, 145738297-145738298, 145738637-145738675, 145738691-145738697, 145738716-145738749, 145738766-145738768, 145738770-145738776, 145738785-145738791, 145738798-145738804, 145738810-145738818, 145738836-145738845, 145738854-145738856, 145738969-145738977, 145738988-145738995, 145739000-145739001, 145739009, 145739012, 145739073-145739096, 145739411-145739418, 145739457-145739464, 145739475-145739481, 145741909, 145742499, 145742543-145742555, 145742559-145742571, 145742809-145742850, 145742860-145742861, 145742873-145742874, 145742879, 145742888-145742892, 145742986-145743019, 145743085-145743168 |
| 1142 | DOCK8 | 9 | 0.97761904761905 | 141 | 6300 | 214977-215029, 332420, 334336, 371528, 371531-371533, 371536-371539, 371543, 371548-371553, 376998, 406982, 407008, 446522-446555, 446604-446606, 452023-452028, 452035-452059 |
| 1143 | VLDLR | 9 | 0.98131197559115 | 49 | 2622 | 2622190-2622231, 2622252, 2622256, 2622259, 2651917-2651918, 2651923, 2651928 |
| 1144 | KCNV2 | 9 | 0.86202686202686 | 226 | 1638 | 2717986-2718028, 2718033, 2718207-2718208, 2718219-2718221, 2718281, 2718308, 2718348, 2718396-2718399, 2718402, 2718407-2718417, 2718425, 2718446-2718447, 2718455, 2718462, 2718466, 2718469-2718470, 2718534, 2718596-2718645, 2718683-2718706, 2718720-2718767, 2718931, 2718942-2718947, 2718950-2718951, 2718954-2718963, 2718970-2718977 |
| 1145 | GLIS3 | 9 | 0.92481203007519 | 210 | 2793 | 4117801-4117803, 4117823-4117844, 4117850, 4117855-4117858, 4117931, 4118028-4118101, 4118107, 4118111, 4118125, 4118140, 4118178-4118179, 4118188-4118190, 4118207-4118210, 4118216-4118217, 4118222, 4118225-4118229, 4118238, 4118244-4118293, 4118328, 4118331, 4118340-4118342, 4118357-4118360, 4118366-4118382, 4118767-4118773 |
| 1146 | SLC1A1 | 9 | 0.99619047619048 | 6 | 1575 | 4583071-4583076 |
| 1147 | JAK2 | 9 | 0.99705795822301 | 10 | 3399 | 5066714, 5077529, 5080286, 5090459-5090465 |
| 1148 | GLDC | 9 | 0.94351942539993 | 173 | 3063 | 6610217, 6645311-6645313, 6645331-6645499 |
| 1149 | CDKN2A | 9 | 0.80254777070064 | 93 | 471 | 21971155-21971179, 21974693, 21974732-21974791, 21974812-21974818 |
| 1150 | CDKN2A | 9 | 0.76053639846743 | 125 | 522 | 21971155-21971179, 21994167-21994169, 21994201-21994230, 21994236-21994267, 21994284-21994291, 21994355-21994380, 21994406 |
| 1151 | TOPORS | 9 | 0.97546207775653 | 77 | 3138 | 32550780-32550827, 32550866-32550889, 32550955-32550959 |
| 1152 | APTX | 9 | 0.9980563654033 | 2 | 1029 | 32973549-32973550 |
| 1153 | B4GALT1 | 9 | 0.79197994987469 | 249 | 1197 | 33166896-33166969, 33166976-33167056, 33167074-33167167 |
| 1154 | DNAI1 | 9 | 0.99761904761905 | 5 | 2100 | 34483474-34483477, 34506702 |
| 1155 | GALT | 9 | 0.99298245614035 | 8 | 1140 | 34646754-34646761 |
| 1156 | VCP | 9 | 0.99091284593143 | 22 | 2421 | 35057373-35057388, 35072345-35072350 |
| 1157 | FANCG | 9 | 0.99518459069021 | 9 | 1869 | 35079183-35079184, 35079196-35079202 |
| 1158 | TPM2 | 9 | 0.99181286549708 | 7 | 855 | 35689706-35689712 |
| 1159 | NPR2 | 9 | 0.9602417302799 | 125 | 3144 | 35792406-35792411, 35792414-35792424, 35792434-35792438, 35792441, 35792460-35792461, 35792471, 35792555-35792601, 35792639-35792651, 35792655-35792656, 35792659, 35792662-35792667, 35792671-35792679, 35792750-35792756, 35792765-35792777, 35806428 |
| 1160 | GNE | 9 | 0.98850574712644 | 26 | 2262 | 36217416-36217439, 36217450-36217451 |
| 1161 | GRHPR | 9 | 0.99493414387031 | 5 | 987 | 37422815-37422818, 37422823 |
| 1162 | FXN | 9 | 0.82780410742496 | 109 | 633 | 71650712-71650734, 71650749, 71650752, 71650776, 71650782-71650863, 71668105 |
| 1163 | TMC1 | 9 | 0.98598335523434 | 32 | 2283 | 75315437-75315446, 75369767-75369779, 75450867-75450875 |
| 1164 | VPS13A | 9 | 0.97837270341207 | 206 | 9525 | 79820229-79820245, 79820280-79820283, 79820286, 79820984, 79820991, 79841479, 79895075, 79896791, 79896833-79896842, 79897095, 79897098, 79897102, 79897117, 79897155-79897156, 79897159-79897161, 79898502, 79908278-79908310, 79908397, 79910543, 79931208-79931244, 79932535-79932564, 79932598-79932614, 79933169-79933171, 79933177, 79934502, 79938073, 79954818-79954819, 79996892-79996901, 79996914-79996935 |
| 1165 | AUH | 9 | 0.91470588235294 | 87 | 1020 | 94123992-94123995, 94123998, 94124038, 94124049, 94124075-94124087, 94124099, 94124106-94124171 |
| 1166 | ROR2 | 9 | 0.96186440677966 | 108 | 2832 | 94486000, 94487004, 94493348, 94495412, 94495527, 94495577, 94495580, 94495582-94495587, 94495591-94495592, 94495608, 94495624, 94495636, 94495694, 94495698, 94712149-94712160, 94712170-94712245 |
| 1167 | FBP1 | 9 | 0.98623402163225 | 14 | 1017 | 97365841-97365854 |
| 1168 | FANCC | 9 | 0.99940369707812 | 1 | 1677 | 97869452 |
| 1169 | PTCH1 | 9 | 0.92518416206262 | 325 | 4344 | 98209525-98209532, 98209609, 98211423, 98239901, 98239905, 98239909-98239913, 98239922, 98239936, 98240352-98240353, 98268689-98268773, 98268785-98268820, 98268860-98268881, 98270483-98270643 |
| 1170 | XPA | 9 | 0.96107055961071 | 32 | 822 | 100459441-100459445, 100459459, 100459519-100459544 |
| 1171 | FOXE1 | 9 | 0.12388591800357 | 983 | 1122 | 100616197-100616356, 100616377-100616656, 100616667-100617180, 100617199-100617227 |
| 1172 | TGFBR1 | 9 | 0.93584656084656 | 97 | 1512 | 101867488-101867584 |
| 1173 | ALG2 | 9 | 0.96243005595524 | 47 | 1251 | 101980449-101980455, 101983841, 101983917-101983920, 101983924-101983929, 101983931, 101983950-101983955, 101984065-101984075, 101984140-101984144, 101984155-101984160 |
| 1174 | INVS | 9 | 0.99280800500313 | 23 | 3198 | 102988460-102988470, 103002448, 103015356-103015363, 103046724, 103046727, 103046754 |
| 1175 | ABCA1 | 9 | 0.99911582670203 | 6 | 6786 | 107558595, 107558603-107558607 |
| 1176 | FKTN | 9 | 0.99422799422799 | 8 | 1386 | 108337348, 108370210-108370216 |
| 1177 | IKBKAP | 9 | 0.99974993748437 | 1 | 3999 | 111665862 |
| 1178 | MUSK | 9 | 0.99693486590038 | 8 | 2610 | 113449424, 113547813-113547814, 113547818, 113547822, 113547949-113547951 |
| 1179 | DFNB31 | 9 | 0.88032305433186 | 326 | 2724 | 117186748, 117186773-117186797, 117240857-117240858, 117240862-117240866, 117240882, 117266672-117266681, 117266699-117266708, 117266724, 117266727, 117266733, 117266746, 117266768-117266771, 117266775, 117266778-117266786, 117266799, 117266809-117266841, 117266850-117266873, 117266880-117266903, 117266910-117267081 |
| 1180 | CDK5RAP2 | 9 | 0.99348820837733 | 37 | 5682 | 123170733, 123171416-123171432, 123342206-123342216, 123342219-123342226 |
| 1181 | GSN | 9 | 0.9514687100894 | 114 | 2349 | 124062146-124062259 |
| 1182 | NR5A1 | 9 | 0.80952380952381 | 264 | 1386 | 127245121, 127245143-127245195, 127253474, 127253482-127253483, 127253491, 127253497, 127255320, 127255322-127255332, 127255335-127255336, 127255398, 127255402-127255407, 127262544, 127262603-127262608, 127262740-127262742, 127262790, 127265358, 127265374-127265400, 127265416, 127265429-127265469, 127265488-127265499, 127265573-127265661, 127265673-127265674 |
| 1183 | LMX1B | 9 | 0.72922252010724 | 303 | 1119 | 129376798-129376801, 129376834-129376835, 129376839, 129376842-129376843, 129376846, 129376850-129376861, 129377662-129377848, 129453173, 129455550, 129455572-129455578, 129455587, 129456031-129456035, 129456046-129456089, 129458144, 129458164, 129458167-129458169, 129458177-129458184, 129458187, 129458207, 129458210-129458211, 129458215-129458221, 129458232-129458241, 129458261 |
| 1184 | STXBP1 | 9 | 0.97902869757174 | 38 | 1812 | 130374683-130374719, 130440723 |
| 1185 | ENG | 9 | 0.98684876074861 | 26 | 1977 | 130578250, 130587596, 130587599-130587601, 130588018, 130588021-130588022, 130588037, 130616595-130616607, 130616620, 130616627-130616629 |
| 1186 | GLE1 | 9 | 0.9928469241774 | 15 | 2097 | 131267175-131267183, 131285982, 131286003-131286004, 131286010-131286012 |
| 1187 | DOLK | 9 | 0.9882498453927 | 19 | 1617 | 131709025-131709035, 131709047, 131709050-131709054, 131709554, 131709557 |
| 1188 | TOR1A | 9 | 0.95695695695696 | 43 | 999 | 132586220, 132586288, 132586291-132586292, 132586298-132586300, 132586317-132586324, 132586330-132586339, 132586342-132586343, 132586349-132586364 |
| 1189 | ASS1 | 9 | 0.99919289749798 | 1 | 1239 | 133327700 |
| 1190 | POMT1 | 9 | 0.98898071625344 | 24 | 2178 | 134379660, 134379663-134379666, 134379669, 134382789-134382793, 134382796, 134385166-134385177 |
| 1191 | SETX | 9 | 0.99626587005228 | 30 | 8034 | 135139850-135139855, 135139872-135139876, 135139882-135139887, 135139897, 135139901, 135153601-135153608, 135163976-135163977, 135202829 |
| 1192 | TSC1 | 9 | 0.99513590844063 | 17 | 3495 | 135771934-135771941, 135771990, 135772904-135772910, 135772917 |
| 1193 | CEL | 9 | 0.78599735799207 | 486 | 2271 | 135937442-135937455, 135944192-135944198, 135944521-135944527, 135946012-135946018, 135946422, 135946473, 135946487-135946490, 135946533, 135946544, 135946558-135946585, 135946640-135947053, 135947096 |
| 1194 | SURF1 | 9 | 0.89258028792913 | 97 | 903 | 136223124-136223149, 136223159-136223175, 136223276-136223329 |
| 1195 | ADAMTS13 | 9 | 0.93977591036415 | 258 | 4284 | 136287593-136287604, 136293754-136293891, 136295060, 136295064-136295065, 136295070-136295079, 136295083-136295093, 136295128, 136295155, 136295159, 136295172-136295177, 136295193, 136298579, 136298588, 136298594-136298599, 136301949-136301951, 136301994-136301995, 136301997, 136302000-136302015, 136302026-136302039, 136302041-136302064, 136308544-136308545, 136321772-136321773, 136321778, 136321789 |
| 1196 | DBH | 9 | 0.97411003236246 | 48 | 1854 | 136501566-136501572, 136516768-136516769, 136516823, 136522250-136522287 |
| 1197 | SARDH | 9 | 0.9778745012695 | 61 | 2757 | 136535737-136535770, 136555502, 136597705-136597714, 136597720, 136597723, 136599017-136599023, 136599200-136599201, 136599269, 136599272, 136599289-136599291 |
| 1198 | COL5A1 | 9 | 0.97136124705456 | 158 | 5517 | 137534034-137534142, 137622266-137622276, 137642407-137642409, 137655565-137655568, 137686928-137686930, 137701065-137701075, 137705851, 137716509, 137716654, 137726876-137726878, 137726883, 137726914, 137726919-137726920, 137726923, 137726941-137726942, 137726947, 137726981-137726983 |
| 1199 | LHX3 | 9 | 0.71877584780811 | 340 | 1209 | 139089303-139089307, 139089315-139089321, 139089339, 139089356-139089376, 139089462-139089509, 139089558-139089560, 139089564-139089565, 139090502-139090503, 139090513, 139090517-139090520, 139090567-139090568, 139090572, 139090594-139090607, 139090629, 139090649, 139090754-139090905, 139091548-139091550, 139091671, 139094805, 139094816-139094885 |
| 1200 | INPP5E | 9 | 0.75245478036176 | 479 | 1935 | 139324249, 139324259, 139326276, 139326281-139326284, 139326301-139326308, 139326311, 139326318, 139326324-139326334, 139326345-139326379, 139326417-139326437, 139327034, 139327718-139327721, 139327724, 139329232-139329235, 139329280-139329283, 139329293, 139333074, 139333077, 139333139, 139333142-139333145, 139333157-139333159, 139333162-139333167, 139333188, 139333300-139333375, 139333390-139333409, 139333455-139333464, 139333471, 139333474-139333483, 139333486, 139333502-139333518, 139333522, 139333531-139333538, 139333621, 139333628-139333638, 139333646, 139333655-139333662, 139333674-139333871 |
| 1201 | NOTCH1 | 9 | 0.91784037558685 | 630 | 7668 | 139390579, 139390833-139390846, 139390900-139390925, 139390949-139390956, 139390961, 139390963-139390974, 139390997, 139391056, 139391059-139391060, 139391284-139391287, 139391290, 139391295-139391300, 139391311-139391332, 139391401-139391406, 139391500, 139391520-139391525, 139391544-139391545, 139391549-139391550, 139391610-139391639, 139391656-139391671, 139391713, 139391723, 139391748-139391789, 139391792-139391810, 139391813-139391817, 139391825-139391829, 139391840-139391845, 139391856, 139391862-139391863, 139391868-139391891, 139391905-139391909, 139391926, 139391939, 139391943, 139391958-139391964, 139391979-139392010, 139395091-139395108, 139395155, 139395298-139395299, 139396279, 139396283, 139396827-139396872, 139396885-139396892, 139396895-139396897, 139396901, 139396904, 139396911, 139396918, 139396921, 139399186-139399234, 139399248, 139399265-139399272, 139399276-139399289, 139399292-139399294, 139399996, 139400001, 139400145-139400146, 139400150-139400169, 139400178, 139400246-139400249, 139400252, 139401075-139401084, 139401219, 139402445, 139402745, 139402747, 139402756-139402764, 139411724-139411731, 139411746-139411772, 139412277-139412280, 139412371, 139417621, 139440178-139440238 |
| 1202 | AGPAT2 | 9 | 0.75268817204301 | 207 | 837 | 139568309, 139568344-139568346, 139571471-139571477, 139571954-139571973, 139581628-139581634, 139581641-139581809 |
| 1203 | SLC34A3 | 9 | 0.79555555555556 | 368 | 1800 | 140127063, 140127456-140127457, 140127486, 140127661, 140127673-140127679, 140127712-140127747, 140127771-140127808, 140127842-140127856, 140128133-140128136, 140128151-140128174, 140128315-140128393, 140128565-140128572, 140128592-140128601, 140128605-140128622, 140128642-140128646, 140128657-140128664, 140128669-140128672, 140128675-140128676, 140128685, 140128876-140128895, 140128912, 140128941, 140128946-140128950, 140128960, 140129137-140129141, 140129146-140129150, 140130498-140130500, 140130549-140130552, 140130606, 140130679-140130701, 140130706, 140130731-140130732, 140130747-140130748, 140130756-140130778, 140130791, 140130797-140130801, 140130805 |
| 1204 | EHMT1 | 9 | 0.97870156530665 | 83 | 3897 | 140513481-140513501, 140605447, 140605471-140605476, 140638527, 140671284-140671288, 140674117-140674118, 140674147, 140705913-140705915, 140728950-140728976, 140729275, 140729286, 140729290-140729295, 140729309-140729310, 140729332-140729337 |
| 1205 | SHOX | X | 0.74288964732651 | 226 | 879 | 591788-591793, 591802, 591810, 591829-591832, 595480, 595493-595497, 595505-595506, 595515-595544, 595547-595548, 595550, 595553-595559, 605127, 605153, 605162-605167, 605170-605173, 605184-605190, 605225-605371 |
| 1206 | CSF2RA | X | 0.95402298850575 | 60 | 1305 | 1407723-1407748, 1422181, 1422206-1422238 |
| 1207 | KAL1 | X | 0.95301027900147 | 96 | 2043 | 8699894, 8699905-8699937, 8699943-8699944, 8699950, 8699976, 8699982-8700038, 8700062 |
| 1208 | GPR143 | X | 0.94823529411765 | 66 | 1275 | 9733640-9733699, 9733743-9733746, 9733797, 9733806 |
| 1209 | RS1 | X | 0.99555555555556 | 3 | 675 | 18660189-18660191 |
| 1210 | RPS6KA3 | X | 0.99955015744489 | 1 | 2223 | 20213240 |
| 1211 | SMS | X | 0.95549500454133 | 49 | 1101 | 21958943-21958991 |
| 1212 | ARX | X | 0.68028419182948 | 540 | 1689 | 25022938-25022945, 25022981-25022982, 25025302, 25025356-25025358, 25025361-25025368, 25025377, 25025381, 25025392-25025398, 25025423-25025428, 25025438-25025445, 25025468-25025474, 25025477, 25025480, 25025496-25025509, 25025515-25025523, 25031160-25031166, 25031277-25031356, 25031459-25031493, 25031504-25031844 |
| 1213 | NR0B1 | X | 0.98584571832979 | 20 | 1413 | 30326614, 30326842-30326847, 30326862, 30326889-30326890, 30327181-30327182, 30327195-30327198, 30327293-30327296 |
| 1214 | DMD | X | 0.99981913546753 | 2 | 11058 | 31514920-31514921 |
| 1215 | RPGR | X | 0.88204683434519 | 408 | 3459 | 38145297-38145325, 38145338-38145590, 38145604-38145609, 38145631-38145667, 38145673-38145755 |
| 1216 | BCOR | X | 0.99848139711465 | 8 | 5268 | 39933569-39933576 |
| 1217 | ATP6AP2 | X | 0.99810066476733 | 2 | 1053 | 40448274-40448275 |
| 1218 | NYX | X | 0.51313969571231 | 704 | 1446 | 41332759, 41332769-41333364, 41333396-41333403, 41333425, 41333428-41333440, 41333446-41333452, 41333466-41333475, 41333479, 41333484-41333550 |
| 1219 | SYN1 | X | 0.7837582625118 | 458 | 2118 | 47433506-47433546, 47433554-47433564, 47433600-47433776, 47433784-47433847, 47433953-47433959, 47434087-47434091, 47434097, 47434101-47434134, 47434139, 47434143, 47478754, 47478781, 47478784-47478788, 47478826-47478855, 47478956, 47478986, 47478990-47478997, 47479008-47479041, 47479085-47479092, 47479101-47479127 |
| 1220 | CFP | X | 0.99858156028369 | 2 | 1410 | 47488926, 47488929 |
| 1221 | FTSJ1 | X | 0.9989898989899 | 1 | 990 | 48341124 |
| 1222 | WAS | X | 0.98277004638834 | 26 | 1509 | 48547208-48547233 |
| 1223 | SYP | X | 0.99044585987261 | 9 | 942 | 49056637-49056645 |
| 1224 | FGD1 | X | 0.98128898128898 | 54 | 2886 | 54521595-54521598, 54521756-54521757, 54521781-54521782, 54521820-54521865 |
| 1225 | AR | X | 0.95222584147666 | 132 | 2763 | 66765127-66765128, 66765147-66765229, 66765470-66765472, 66765496, 66765521, 66765604-66765607, 66766323, 66766352, 66766359-66766363, 66766369-66766399 |
| 1226 | EFNB1 | X | 0.9971181556196 | 3 | 1041 | 68060284-68060286 |
| 1227 | EDA | X | 0.98299319727891 | 20 | 1176 | 68836195-68836203, 68836227-68836232, 68836241, 68836381-68836384 |
| 1228 | DLG3 | X | 0.98940505297474 | 26 | 2454 | 69665056-69665057, 69665135-69665140, 69665254-69665262, 69665273-69665277, 69665283, 69665377, 69669639-69669640 |
| 1229 | MED12 | X | 0.98653198653199 | 88 | 6534 | 70338605-70338672, 70338692-70338696, 70360609-70360621, 70361109-70361110 |
| 1230 | GJB1 | X | 0.98708920187793 | 11 | 852 | 70444380-70444390 |
| 1231 | TAF1 | X | 0.96814501935938 | 181 | 5682 | 70586165-70586344, 70617113 |
| 1232 | SLC16A2 | X | 0.91748099891422 | 152 | 1842 | 73641302-73641306, 73641317-73641368, 73641376, 73641391-73641396, 73641400-73641454, 73641465-73641470, 73641569, 73641573, 73641586-73641588, 73641591, 73641714-73641715, 73641729-73641747 |
| 1233 | ATRX | X | 0.99986629228506 | 1 | 7479 | 77041476 |
| 1234 | BRWD3 | X | 0.99389905712701 | 33 | 5409 | 79964932-79964933, 80064940-80064970 |
| 1235 | ZNF711 | X | 0.99912510936133 | 2 | 2286 | 84523300-84523301 |
| 1236 | PCDH19 | X | 0.99364791288566 | 21 | 3306 | 99663351-99663354, 99663440-99663443, 99663462-99663474 |
| 1237 | COL4A5 | X | 0.9998022933966 | 1 | 5058 | 107807147 |
| 1238 | CUL4B | X | 0.99781181619256 | 6 | 2742 | 119694114-119694119 |
| 1239 | HPRT1 | X | 0.95890410958904 | 27 | 657 | 133594342-133594368 |
| 1240 | SLC9A6 | X | 0.96011396011396 | 84 | 2106 | 135067670-135067671, 135067681-135067688, 135067712-135067717, 135067724, 135067757-135067763, 135067772-135067796, 135067885, 135067896-135067917, 135067975-135067986 |
| 1241 | ZIC3 | X | 0.92450142450142 | 106 | 1404 | 136648886-136648887, 136648893-136648901, 136648988, 136648991-136648994, 136648999-136649008, 136651069-136651072, 136651084-136651143, 136651155-136651161, 136651216-136651224 |
| 1242 | SOX3 | X | 0.50335570469799 | 666 | 1341 | 139585885-139586078, 139586098-139586118, 139586158-139586513, 139586520-139586527, 139586576, 139586637-139586677, 139586699-139586704, 139586727-139586737, 139586740, 139586743-139586760, 139586867-139586871, 139587053-139587056 |
| 1243 | FAM58A | X | 0.89659863945578 | 76 | 735 | 152864444-152864480, 152864483-152864521 |
| 1244 | SLC6A8 | X | 0.83700209643606 | 311 | 1908 | 152954030-152954291, 152959799-152959841, 152959882-152959887 |
| 1245 | ABCD1 | X | 0.97184986595174 | 63 | 2238 | 152990958-152990962, 152991254-152991256, 152991265, 152991279, 152991282-152991283, 152991286-152991291, 152991418-152991419, 153008473-153008486, 153008675-153008678, 153008981-153008987, 153009021-153009034, 153009079-153009082 |
| 1246 | L1CAM | X | 0.99920508744038 | 3 | 3774 | 153137620-153137622 |
| 1247 | MECP2 | X | 0.95257181028724 | 71 | 1497 | 153296207-153296215, 153363061-153363122 |
| 1248 | OPN1LW | X | 0.99269406392694 | 8 | 1095 | 153418541, 153420173-153420179 |
| 1249 | OPN1MW | X | 0.96986301369863 | 33 | 1095 | 153453459-153453460, 153457286-153457302, 153458999-153459011, 153459080 |
| 1250 | OPN1MW | X | 0.98264840182648 | 19 | 1095 | 153490577-153490578, 153494404-153494420 |
| 1251 | FLNA | X | 0.99874118831823 | 10 | 7944 | 153580560, 153599241-153599243, 153599326-153599328, 153599368, 153599544-153599545 |
| 1252 | EMD | X | 0.8562091503268 | 110 | 765 | 153607845-153607926, 153608060, 153608068-153608069, 153608115-153608136, 153608144, 153608147-153608148 |
| 1253 | GDI1 | X | 0.99553571428571 | 6 | 1344 | 153665640-153665645 |
| 1254 | G6PD | X | 0.99267399267399 | 12 | 1638 | 153760226-153760231, 153760300, 153775081-153775085 |
| 1255 | IKBKG | X | 0.90027322404372 | 146 | 1464 | 153786770-153786802, 153788622-153788646, 153788655-153788693, 153788713-153788744, 153788764, 153792557-153792572 |
| 1256 | IKBKG | X | 0.96728016359918 | 16 | 489 | 153868355-153868370 |
| 1257 | USP9Y | Y | 0.99843505477308 | 12 | 7668 | 14847640-14847645, 14898518-14898523 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 5 | MYL2-A13T | het unknown | 0.008 | Dominant pathogenic | High clinical importance, uncertain | This rare variant is implicated in causing late-onset familial hypertrophic cardiomyopathy. The variant has been found in five affected Caucasian individuals (in four families), but affected non-carriers and unaffected carriers have also been observed. No statistically significant enrichment of this variant in cases vs. controls has been shown. |
| 2.5 | SP110-M579I | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-M523T | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-L425S | homozygous | 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. |
| 2.5 | SP110-G299R | homozygous | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-A206V | homozygous | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-W112R | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | RPGRIP1L-G1025S | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | RPGRIP1L-R744Q | homozygous | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 2.5 | RPGRIP1L-A229T | het unknown | 0.055 | Unknown pathogenic | Low clinical importance, likely | This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare. |
| 2.5 | C3-P314L | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
| 2.5 | C3-R102G | het unknown | 0.053 | Complex/Other pathogenic | Moderate clinical importance, likely | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. |
| 2 | CHIT1-A442G | homozygous | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | CHIT1-G102S | homozygous | 0.268 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 2 | AKAP10-I646V | homozygous | 0.434 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | AKAP10-R249H | homozygous | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-G1166S | homozygous | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-I395T | homozygous | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | CHRNA5-D398N | homozygous | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign) |
| 2 | APOA5-S19W | het unknown | 0.039 | Unknown pathogenic | Low clinical importance, likely | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. |
| 2 | MTRR-I49M | homozygous | 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. |
| 2 | MTRR-S202L | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1.375 | STXBP2-R190C | het unknown | 0.008 | Recessive pathogenic | High clinical importance, uncertain | Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause familial hemophagocytic lymphohistiocytosis (a severe disorder that manifests in childhood). |
| 1.375 | STXBP2-I526V | het unknown | 0.725 | 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 | F5-L1285I | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NAT2-I114T | homozygous | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-G584R | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | MRPL28-H27Y | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 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 | ANKK1-A239T | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.852 (probably damaging) |
| 1 | ANKK1-G318R | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 1 | ANKK1-G442R | homozygous | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ANKK1-H490R | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | ANKK1-E713K | het unknown | 0.347 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | PTCHD3-*768Q | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-M521T | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-D473G | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 1 | PTCHD3-C407G | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 1 | PTCHD3-S309Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | HABP2-T50M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | CD226-S307G | homozygous | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | SEBOX-L207S | homozygous | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TTN-V33180A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-P32685L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-G31702V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V30951I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I30146F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I26820T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V25297A | het unknown | Unknown | 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-S22872N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-Q22389H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-S20650G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A20244P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V19783I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T18827I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-N16125D | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-R13340H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-I9278V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-N7559S | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S7181N | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-A7111E | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-E6900A | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-D6218H | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S3419N | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3261M | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K1201E | homozygous | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-T811I | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ADAMTSL3-H146R | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 1 | ADAMTSL3-L290V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ADAMTSL3-V661L | homozygous | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ADAMTSL3-T1660I | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HLA-H-Q61R | homozygous | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-H-R100C | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-H-S182W | homozygous | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | EYS-R2326Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | EYS-N1902I | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-L1419S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-L852P | het unknown | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-E641V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-G631S | het unknown | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT83-H493Y | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT83-I279M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | KRT83-R149C | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AKAP9-M463I | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AKAP9-K1335KQ | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AKAP9-N2792S | homozygous | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | DNAH11-E34L | homozygous | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DNAH11-Q639R | homozygous | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DNAH11-S654C | homozygous | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DNAH11-T1038A | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DNAH11-N2641S | homozygous | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DNAH11-V3715L | homozygous | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DNAH11-S3765P | homozygous | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CELA1-L210Shift | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 1 | CELA1-M59V | homozygous | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging) |
| 1 | CELA1-Y5P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CELA1-V3Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | EDN1-K198N | het unknown | 0.235 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign) |
| 1 | PSMB5-R24C | homozygous | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 1 | BANK1-R61H | het unknown | 0.221 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | BANK1-A383T | homozygous | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
| 1 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | KCP-H313Shift | homozygous | Unknown | 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 | 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 | NR_027127-W61* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | C14orf104-D768G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | HTT-Y2309H | homozygous | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-V2786I | homozygous | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R3738H | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R3530S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-V3179G | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-H2507Q | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-L2481S | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-S2366T | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-VG2225AV | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-L2224Q | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-Y2119H | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1699C | het unknown | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1684H | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-S1482Y | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1376G | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1360H | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-A1167G | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-E755K | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-P478S | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-G444R | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-G332V | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DEFB126-P106Shift | homozygous | 0.023 | 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 | H2BFM-Q73* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | HTR2C-C23S | homozygous | 0.191 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign) |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027052-Q90* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | SEPN1-C108Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SEPN1-N467K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | SALL4-P740A | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | KRTAP7-1-I61S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ARSD-P293S | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | ARSD-S224C | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 1 | ARSD-F223L | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | 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 | USP9Y-E65D | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview | |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-M356I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-N3T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.75 | MTHFR-A222V | het unknown | 0.250 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 0.75 | SYNE1-R8735Q | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.75 | SYNE1-G8323A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.75 | SYNE1-A8168S | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | SYNE1-Q6083Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | SYNE1-K4121R | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | SYNE1-E4060D | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.625 | 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 | FANCA-L798Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | FANCA-T266A | homozygous | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUT-R532H | homozygous | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-V3960I | het unknown | 0.023 | Unknown benign | Low clinical importance, likely | Probably benign, reported as a nonpathogenic polymorphism found in controls. |
| 0.5 | PKHD1-I3905N | het unknown | 0.030 | Unknown benign | Low clinical importance, likely | Presumed benign, allele frequency contradicts severe pathogenic effect. |
| 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 | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CUL7-Q813R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TRERF1-D1187N | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | TRERF1-P272Q | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.402 (possibly damaging) |
| 0.5 | TULP1-K261N | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NBPF3-M1Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NBPF3-Y114C | homozygous | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | NBPF3-D190H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.438 (possibly damaging) |
| 0.5 | NBPF3-F429C | homozygous | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.426 (possibly damaging) |
| 0.5 | NBPF3-E430G | homozygous | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NBPF3-D444E | homozygous | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.16 (benign) |
| 0.5 | NBPF3-L459V | homozygous | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CLPS-R55H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) | |
| 0.5 | FGD2-R306C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | COL9A1-Q621R | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A1-S339P | homozygous | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNF207-N573S | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RNF207-G603A | het unknown | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign) |
| 0.5 | ZBTB24-R49Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | RSPH4A-R556H | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-L589P | homozygous | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BCLAF1-S209C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDSS2-R349* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | AIM1-E1196A | het unknown | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 0.5 | LCA5-G656D | homozygous | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-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 | GRIK2-Q621H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | PADI4-G55S | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PADI4-V82A | het unknown | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PADI4-G112A | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.077 (benign) |
| 0.5 | PADI4-D260N | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | PADI4-R650S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 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-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 | HLA-DQB1-Q256R | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157S | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-Y62H | homozygous | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-M24I | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A6S | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EPM2A-I126V | 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 | 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 | TCOF1-P1139R | homozygous | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAT2-P4117L | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-Q3953H | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | FAT2-M3631I | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.129 (benign) |
| 0.5 | FAT2-F2428S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-Y1181H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-R368K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | GEMIN5-R682Q | homozygous | 0.811 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.151 (benign) |
| 0.5 | GEMIN5-R319G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ADRB2-E27Q | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SPINK5-D106N | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-D386N | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-H1002R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SNAPC4-H799Q | homozygous | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNAPC4-D40G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | FBXL21-N31Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FBXL21-V172Del | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FBXL21-P208L | het unknown | 0.812 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL9A2-V581I | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.037 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A2-Q326R | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX746964-K166I | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | 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 | FGFR4-P136L | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FGFR4-G388R | het unknown | 0.301 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.481 (possibly damaging) |
| 0.5 | COL5A1-G530S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HSPA1L-E602K | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | TNXB-P2947T | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G2518E | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G1140D | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Y48F | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q57E | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-R64K | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-QS152HA | het unknown | 0.116 | 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 | ATXN1-P753S | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATXN1-I730V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GNL2-R455W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PROP1-A142V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PROP1-A142T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GRM6-A807V | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests |
| 0.5 | 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 | FLT4-R1324L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IQCE-R383L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | SHPRH-S969C | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (probably damaging) |
| 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 | STK3-S40N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | VPS13B-E2560K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | VPS13B-S3117G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | VPS13B-R3561Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CNGB3-E755G | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-I307V | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-T298P | het unknown | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHRNA2-T125A | homozygous | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PXDNL-V1327D | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PXDNL-C1258* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PXDNL-M981V | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SDR16C6-T318P | homozygous | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SDR16C6-S221T | homozygous | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SDR16C6-L63* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ZFHX4-R2853H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | COL14A1-P855L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | COL14A1-V1342L | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
| 0.5 | TG-S734A | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-D1312G | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-R1999W | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-W2501R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | homozygous | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-N1070D | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.127 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-S1077N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TTC39B-P560L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TTC39B-I354V | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VCP-I27V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-E267D | het unknown | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPT-H14N | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSTA3-R320G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PLEC-Q3586L | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-V3162I | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | homozygous | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-A641V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEKHG5-G866S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PLEKHG5-M496V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.795 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PLEKHG5-T294S | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FOXH1-D328E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | ZNF189-N585S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.882 (probably damaging) |
| 0.5 | PCM1-N159S | het unknown | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCM1-N455S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.902 (probably damaging) |
| 0.5 | PCM1-M597V | het unknown | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PCM1-R1251H | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | ARHGEF19-P460L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ARHGEF19-E238Q | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.045 (benign) |
| 0.5 | ARHGEF19-G163R | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.186 (benign) |
| 0.5 | ZNF643-C13Y | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | ZNF643-P41A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | ABCB1-S893A | homozygous | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | POR-A503V | het unknown | 0.227 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HIP1-T62M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | TRPM6-Q1663R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests |
| 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 | SPATA21-K361KK | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SPATA21-V255L | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPATA21-P119L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | URGCP-M779L | het unknown | 0.506 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.464 (possibly damaging) |
| 0.5 | URGCP-R432Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | PRAMEF2-R33S | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PRAMEF2-V67G | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRAMEF2-T72R | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MGAM-N858D | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MGAM-P1424T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DFNB31-N796K | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | 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 | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA1-K1587R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-V399A | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-R304I | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | homozygous | 0.241 | 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 | IMPDH1-T257A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUC17-A427T | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-P1066T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | MUC17-P1225S | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-S1846T | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-T2180I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MUC17-P2221R | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IFRD1-T127I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | CRB2-T90N | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CRB2-R1249Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | GRM8-W491R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DMXL1-R203Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | DMXL1-S466R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.127 (benign) |
| 0.5 | DMXL1-V2067M | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | DMXL1-T2107S | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | DMXL1-R2131S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIAA0467-R834H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | KIAA0467-T1827S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.027 (benign) |
| 0.5 | COL3A1-A698T | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BMPR2-S775N | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | SPAG16-D56N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.665 (possibly damaging) |
| 0.5 | SPAG16-S356N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | SPAG16-Q361H | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPAG16-K425T | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PI4KB-F386Shift | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ITGA6-A380T | homozygous | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGA6-D910N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN9A-N1245S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN9A-W1150R | homozygous | 0.896 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB11-R698H | het unknown | 0.008 | Unknown benign | Low clinical importance, uncertain | Rare, classified as nonpathogenic in most reports (although Polyphen 2 predicts damaging effect). Other recessive variants in this gene cause intrahepatic cholestasis in a recessive manner. |
| 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 | LRP2-I4210L | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LRP2-K4094E | homozygous | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRP2-A2872T | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRP2-V1948M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | LRP2-G259R | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SLC25A12-R473Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | NUDT17-C300Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NUDT17-C300Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AGXT-E371K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.039 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYRIP-K100M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (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 | CCR5-S185Shift | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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-M2927T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-P2218L | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATG16L1-T300A | homozygous | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | COL4A4-S1400P | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | homozygous | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | homozygous | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEC22B-D70Y | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-T81K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R107Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-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 | IGSF3-Q1093R | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IGSF3-V920M | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | IGSF3-R463H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | COL4A3-G43R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | homozygous | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-D326Y | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | homozygous | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN1A-A1056T | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-S2912P | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | het unknown | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | het unknown | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-E3411A | het unknown | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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-D644V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EPHX1-H139R | het unknown | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | OBSCN-A908T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) | |
| 0.5 | OBSCN-H1158L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | OBSCN-D2106E | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | OBSCN-G4039R | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | OBSCN-C4450R | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | OBSCN-R4534H | het unknown | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.515 (possibly damaging) |
| 0.5 | OBSCN-S4642C | homozygous | 0.737 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.058 (benign) |
| 0.5 | OBSCN-G4666S | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.467 (possibly damaging) |
| 0.5 | OBSCN-D4962G | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.467 (possibly damaging) |
| 0.5 | OBSCN-L5269V | het unknown | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.032 (benign) |
| 0.5 | OBSCN-Q5891E | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.027 (benign) |
| 0.5 | OBSCN-P6272S | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.402 (possibly damaging) |
| 0.5 | PCNXL2-R1050H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | FLG2-S2377* | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | FLG2-S895Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | FLG2-S895Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | FLG2-R276Q | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FLG2-L41F | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CACNA1S-L1800S | het unknown | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-L458H | het unknown | Unknown benign | Low clinical importance, likely | Common polymorphism | |
| 0.5 | CACNA1S-G258D | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-A69G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NES-P1275L | homozygous | 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 | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | QSOX1-H399Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | HMCN1-E722K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.137 (benign), Testable gene in GeneTests |
| 0.5 | HMCN1-L1961F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-I2418T | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-T2500I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.971 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-E2893G | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 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 | ASPM-E216K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTR-D919G | het unknown | 0.262 | Complex/Other protective | Low clinical importance, uncertain | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. |
| 0.5 | APOB-S4338N | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-R4270T | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-R3638Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-I2313V | het unknown | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Low clinical importance, uncertain | This position is almost certainly an error in the HG18 reference sequence. |
| 0.5 | APOB-T98I | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNAH6-V141M | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH6-R664G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DNAH6-G1694A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.026 (benign) | |
| 0.5 | DNAH6-Y2119C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) | |
| 0.5 | DNAH6-K2859R | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | MRPS5-R284Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CCDC93-Q415R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.966 (probably damaging) |
| 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 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | homozygous | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DYSF-G129E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HADHB-T2TT | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OTOF-R773C | het unknown | 0.024 | Unknown benign | Low clinical importance, uncertain | Presumed benign. Seen in 2.4% of randomly chosen chromosomes, contradicting a severe pathogenic hypothesis. |
| 0.5 | OTOF-D304Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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 | GCKR-L446P | het unknown | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CYP1B1-N453S | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-V432L | het unknown | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYB561D2-R79Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ATXN7-S920R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HADH-L86P | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | CFI-A240G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.605 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNF175-I322N | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RNF175-L307F | homozygous | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 0.5 | RNF175-R292C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | RNF175-M159V | homozygous | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.395 (possibly damaging) |
| 0.5 | ANXA10-R47C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CPT2-V368I | homozygous | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPT2-M647V | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | LRP8-M407T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | LRP8-D46E | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TLR6-S249P | homozygous | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PDGFRA-G79D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests |
| 0.5 | LPHN3-T659A | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.865 (probably damaging) |
| 0.5 | UGT2B15-K523T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | UGT2B15-Y85D | homozygous | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SDHA-D38V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | het unknown | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4A22-C231R | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4A22-P385L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CYP4A22-L428P | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | APC-V1822D | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAAH-P129T | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 0.5 | FCRLB-T32I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 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 | GPR98-S199I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | homozygous | 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-L2004F | homozygous | 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-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-G3248D | homozygous | 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-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 | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L6249R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | 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 | homozygous | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-L2862F | homozygous | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-N549K | 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 | 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 | GHR-I544L | homozygous | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | RAD17-L557R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
| 0.5 | FAM169A-E511K | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | BDP1-D38E | homozygous | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-R757C | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-V778M | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | BDP1-G1180S | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-F1244I | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-I1264M | homozygous | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-V1347M | homozygous | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-K1469E | het unknown | 0.379 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.038 (benign) |
| 0.5 | BDP1-Q1676E | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | BDP1-I2013L | homozygous | 0.824 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EVC-Q74P | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 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-T449K | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CDCP2-M409Shift | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | CDCP2-M409Shift | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | CDCP2-A325Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CDCP2-G244R | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.239 (possibly damaging) |
| 0.5 | IQCB1-C434Y | homozygous | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | PARP15-V42M | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP15-A45T | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP15-R463Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PARP15-G628R | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UMPS-G213A | het unknown | 0.170 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC41A3-L501Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC41A3-T62A | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GOLGB1-R3077H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | DRD3-G9S | homozygous | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SUCLG2-G198R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (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 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | RETNLB-L14Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | COL6A6-R323W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | COL6A6-A370T | homozygous | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.86 (probably damaging) |
| 0.5 | COL6A6-I1137T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | COL6A6-S1708F | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.911 (probably damaging) |
| 0.5 | COL6A6-H1799R | het unknown | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MCF2L2-M1015T | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.716 (possibly damaging) |
| 0.5 | MCF2L2-T902A | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MCF2L2-R120* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | INADL-E362A | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | INADL-I400V | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | INADL-I870M | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | INADL-G1178S | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | INADL-R1282H | het unknown | 0.497 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | INADL-V1360L | homozygous | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CPN2-Q509W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CPN2-A305T | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | MUC20-D322H | het unknown | 0.711 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC20-T345Shift | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NOTCH1-P1377S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALG6-Y131H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG6-S306F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OPA1-S158N | homozygous | 0.482 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RTP4-D109H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | RTP4-T131M | het unknown | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RTP4-C169Y | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RTP4-A204D | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LPP-R600H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CLDN16-R55Shift | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | SYDE2-V1157I | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SYDE2-M1142Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SYDE2-V569I | homozygous | 0.946 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SYDE2-S422L | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | DPYD-V732I | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.905 (probably damaging), Testable gene in GeneTests |
| 0.5 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TTC16-R134C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TTC16-E588G | het unknown | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.5 | ZNF101-H127R | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (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 | ZNF57-S56A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | ZNF57-T223N | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.654 (possibly damaging) |
| 0.5 | TSHR-P52T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TSHR-V721F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TSHR-E727D | homozygous | 0.895 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | VSX2-D291N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), 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 | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | 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-R4041H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), 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 | SYNE2-P5531T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.688 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PAX9-T199TVT | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NIN-G1320E | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NIN-Q1125P | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NIN-R470W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SIX6-H141N | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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-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 | SPATA7-V74M | homozygous | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFYVE19-P190L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ZFYVE19-S376A | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SPTBN5-Y2922H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-Q2827R | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-Q1777E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SPTBN5-R1525H | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-C1000R | het unknown | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-H398R | het unknown | 0.870 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ARRDC1-N287T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | ARRDC1-G363C | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.177 (benign) |
| 0.5 | NM_001080841-R42C | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | INF2-R877Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CCDC88C-L1992P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCDC88C-G1983A | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | CCDC88C-E1334D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | ELANE-P257L | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (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 | LOXHD1-R2133H | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-A2036V | homozygous | 0.396 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-E1623G | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-C1344F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | LOXHD1-V363I | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ARHGAP5-A1406T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging) |
| 0.5 | TEP1-I2486M | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-K1955R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S1195P | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1055C | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-K368R | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-N307K | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-H239R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-T137M | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S116P | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HNF1A-I27L | het unknown | 0.311 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S487N | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MAPT-P202L | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAPT-D285N | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAPT-V289A | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAPT-R370W | het unknown | 0.116 | Unknown benign | Low clinical importance, uncertain | Probably benign. |
| 0.5 | MAPT-S447P | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KNTC1-K245N | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.289 (possibly damaging) |
| 0.5 | KNTC1-V2021G | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (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-H1235L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.047 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH3-P496L | het unknown | 0.023 | Unknown benign | Low clinical importance, uncertain | Presumed benign, seen in two healthy PGP participants. |
| 0.5 | ACADS-G209S | homozygous | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.5 | IFT81-D134G | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SH2B3-W262R | het unknown | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RASAL1-R321H | het unknown | 0.775 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RASAL1-T58M | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DDX54-R693Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.86 (probably damaging) |
| 0.5 | MAN2B1-R337Q | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-T312I | homozygous | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-L278V | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF44-T268I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) | |
| 0.5 | ZNF44-R82P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.083 (benign) | |
| 0.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PROZ-R295H | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.884 (probably damaging) |
| 0.5 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-H49Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_028064-H41Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | LIG4-T9I | het unknown | 0.132 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | FARP1-S487L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 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 | TSPAN16-S233Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ATP7B-V1140A | homozygous | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-R952K | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-K832R | homozygous | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | 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 |
| 0.5 | KLF12-S118L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | DSC3-R27S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-P1208T | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DHODH-K7Q | homozygous | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign) |
| 0.5 | CYBA-Y72H | het unknown | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CDK10-F135Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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 | HYDIN-E4159Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HYDIN-A4025T | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-T4004A | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-Q3904Shift | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | HYDIN-V3898M | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-M3868R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3839L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3741I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3738T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L3315P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3290P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-T3115R | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-I2693S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-K2588R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-D2569N | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-G2557E | het unknown | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-TEKER2520Del | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L2501S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-P2454Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-N2444I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-E2305G | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | HYDIN-R2297G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | HYDIN-Q2241R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-V2098M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-R2086C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | HYDIN-I1533V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-P1491H | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | HYDIN-V1228L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HYDIN-I1077V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.082 (benign) |
| 0.5 | HYDIN-N724D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-T690A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-G489D | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | HYDIN-M15T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | CES3-G231S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | AGRP-R82H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | NQO1-R139W | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.946 (probably damaging) |
| 0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AKAP1-A18V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | ERBB2-I655V | het unknown | 0.121 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.18 (benign) |
| 0.5 | ERBB2-P1170A | homozygous | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | ERBB2-A1216D | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | PNPO-R116Q | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.953 (probably damaging), 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 | 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 | MYH4-K1911E | het unknown | 0.531 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYH4-R1504Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | MYH4-E1209K | het unknown | 0.530 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MYH4-I1106M | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYH4-Q329R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CHRNE-V468L | 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 | 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 | AIPL1-D90H | homozygous | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PITPNM3-V181I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests |
| 0.5 | TSEN54-I137L | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-P483A | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC135-D51N | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.927 (probably damaging) |
| 0.5 | CCDC135-N581K | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | UNC13C-D304E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | UNC13C-G609S | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UNC13C-S942L | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TGIF1-P292L | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO5C-R172C | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 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 | 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 | CEP152-L914V | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NM_032802-N126D | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (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 | DCXR-A218T | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DCXR-H195Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MVP-R623W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SRCAP-P1535A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 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 | ARHGAP17-R510Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.973 (probably damaging) |
| 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 | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TELO2-S553N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | TELO2-Q674R | het unknown | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PKD1-D1332N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.463 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF597-L199V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.883 (probably damaging) |
| 0.5 | MGAT5B-V70I | het unknown | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | MGAT5B-Q126E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | HPD-V340L | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HPD-T33A | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRTAP10-4-D31A | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.945 (probably damaging) |
| 0.5 | KRTAP10-4-*402C | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | APOBEC3G-N302Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | EHF-A96V | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | TRIOBP-H1300R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | TRIOBP-E1372D | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly 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 | TRIOBP-E2246K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests |
| 0.5 | SLC6A5-G102S | het unknown | 0.420 | 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 | USH1C-E819D | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RIC3-D351N | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RIC3-C130Y | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.232 (possibly damaging) |
| 0.5 | RIC3-P101S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CACNA1I-D262Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SBF2-R1686S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PIWIL3-V418M | homozygous | 0.922 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PIWIL3-P375S | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.856 (probably damaging) |
| 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 | MTL5-A280G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | MTL5-C223R | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | C2CD3-R1219Q | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | C2CD3-P551L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MYO7A-A1703V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L1954I | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDC42BPG-A1048T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging) | |
| 0.5 | SLC19A1-C458G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | SLC19A1-H27R | het unknown | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.5 | DGKZ-Q21R | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DGKZ-G69C | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | PTPRJ-P445L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | PTPRJ-E872D | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.047 (benign) |
| 0.5 | SLC43A3-R203H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NAP1L4-S7* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | H19-G355R | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-T25M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO3A-R319H | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-I348V | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-V369I | het unknown | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-A833S | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | MYO3A-S956N | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-T1284S | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | MYO3A-R1313S | homozygous | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CHAT-L243F | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AIFM2-G2V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 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-D882G | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEBL-SST886RIP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NEBL-D378H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | NEBL-M351V | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | OPN1LW-L153M | homozygous | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTF1A-S263P | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.5 | CDH23-S494N | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-V1672I | homozygous | 0.133 | 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 | SBF1-R1053W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | RAB11FIP2-T317A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | ADAM8-F657L | homozygous | 0.792 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAM8-M548Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ADAM8-R189W | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ADAM8-W35R | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CTSD-A58V | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-D1370G | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CALHM1-L86P | homozygous | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NDST2-M375V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.945 (probably damaging) |
| 0.5 | ARFGAP3-M431T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ARFGAP3-S355R | het unknown | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ST13-M297I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) | |
| 0.5 | HPS1-V4A | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.827 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | CACNA1C-P817S | 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 | 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 | GNB3-G272S | het unknown | 0.027 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.184 (benign) |
| 0.5 | TMPRSS3-A90T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.5 | PTPRH-I1076V | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | PTPRH-K823E | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTPRH-H348Y | het unknown | 0.576 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PTPRH-E306Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | VPS16-W728R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DCP1B-N195D | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.859 (probably damaging) |
| 0.5 | NLRP9-A50D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | PZP-T1205P | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PZP-T1003M | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PZP-N857S | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PZP-V813A | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PZP-Q598* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PZP-L379V | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KLK13-H109Y | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | BEST3-K59Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HAL-P598L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | HAL-V439I | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF737-K516E | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF737-Y369C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ZNF737-C78G | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | KIAA0748-R19H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PNKP-P20S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.471 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SLCO1B1-N130D | homozygous | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLCO1B1-P155T | het unknown | 0.071 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PKP2-R651C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-N551K | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-R1398H | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FPR1-E346A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-V101L | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | C2CD2-R408C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ZC3H12C-D157N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 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 | DPAGT1-I393V | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWA5A-R757C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | LCA5L-S265C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | LCA5L-G17S | het unknown | 0.243 | 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-P480L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | SNX19-S407G | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-D396E | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-G381S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SNX19-V361L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CRLS1-P193L | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 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 |
| 0.375 | FUT6-R303G | het unknown | 0.107 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.725 (possibly damaging) |
| 0.375 | FUT6-P124S | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.614 (possibly damaging) |
| 0.375 | SRA1-DA174VP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | 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 | 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 | BRIP1-S919P | het unknown | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC2-I776V | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SCN4A-N1376D | het unknown | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SCN4A-S524G | het unknown | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-E158K | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | ASMTL-V458M | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.098 (benign) |
| 0.25 | ASMTL-V125Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RAD51AP2-R1091Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RAD51AP2-G1037D | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.979 (probably damaging) |
| 0.25 | FRZB-R324G | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | XYLT2-R305T | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | XYLT2-T801R | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | ITGB2-I712T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | ITGB2-Q354H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests |
| 0.25 | CYP2B6-Q172H | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign) |
| 0.25 | CYP2B6-K262R | het unknown | 0.298 | Unknown pharmacogenetic | 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 | 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 | AGL-P1067S | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging), 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 | 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 | CYP4B1-R173W | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CYP4B1-D295Shift | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | CYP4B1-M332I | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP4B1-R341C | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP4B1-R376C | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KCNQ2-N780T | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | EDARADD-M9I | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-Q620H | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-H601Y | het unknown | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-E224G | het unknown | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-H199R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-R223H | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-V780I | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGB4-L1779P | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AGT-M268T | het unknown | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NM_031454-M481Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NM_031454-G611R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | COG1-N392S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DL492456-R148H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DL492456-Y109C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DL492456-W104* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | CFH-H402Y | het unknown | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HSPG2-S4331N | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-H3256Y | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-G2572V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | HSPG2-N765S | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-M638V | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TYK2-V362F | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | MCEE-R104L | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MCEE-A76V | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAP1A-D1245N | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.979 (probably damaging) |
| 0.25 | MAP1A-A1470T | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.25 | MAP1A-A1752V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MAP1A-A2503Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KRT4-S579R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | KRT4-Q230R | homozygous | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT4-A146V | homozygous | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | C7orf69-K32E | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C7orf69-V112Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HYLS1-C31R | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 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 | 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 | ALG8-N222S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FBXO24-T574M | het unknown | 0.205 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FBXO24-E579Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PON1-Q192R | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | PON1-L55M | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | NPSR1-N107I | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | NPSR1-Q344R | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC22A16-M409T | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | SLC22A16-V252A | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.609 (possibly damaging) |
| 0.25 | SLC22A16-H49R | het unknown | 0.333 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | KRT6B-I365V | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASP10-L522I | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLCO1B3-S112A | het unknown | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SLCO1B3-M233I | het unknown | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
| 0.25 | SOD2-V16A | het unknown | 0.362 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SDK1-D1016N | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SDK1-S1223* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | SDK1-H1641R | het unknown | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.25 | FAM20C-I320Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FAM20C-R558W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SLC22A2-S270A | het unknown | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | POLA2-G583R | het unknown | 0.118 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.024 (benign) |
| 0.25 | NR_001296-A8I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_001296-G11A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_001296-Q56K | het unknown | 0.576 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Nonsense mutation |
| 0.25 | NR_001296-Q56K | het unknown | 0.576 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Nonsense mutation |
| 0.25 | NR_001296-I103T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_001296-N182K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | 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 | TTC18-N944D | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TTC18-Q144* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C10orf113-D100H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-S22Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DBH-A211T | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-S2612G | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-T1855A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-G1252R | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-D1192E | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-A660G | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLCE1-R548L | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.25 | PLCE1-R1575P | homozygous | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-T1777I | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-H1927R | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | ARMS2-R38* | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 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 | NOS3-D298E | het unknown | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CLCN1-P727L | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ESCO2-A80V | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD44-R288Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CD44-K417R | het unknown | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CD44-I479T | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NBN-E185Q | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GGH-A31T | het unknown | 0.198 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RP1-N985Y | het unknown | 0.206 | Unknown benign | Low clinical importance, uncertain | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. |
| 0.25 | RP1-C2033Y | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.25 | KRT5-D197E | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | UGT2B7-Y268H | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | MYH15-T1125A | het unknown | 0.180 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.007 (benign) |
| 0.25 | MYH15-H504Y | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.25 | MYH15-R454Q | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | CD19-L174V | het unknown | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH11-A1241T | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLR1-S602I | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TLR1-N248S | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | TLR1-R80T | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | SLC5A8-M490I | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 0.25 | SLC5A8-F428Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SLC5A8-V193I | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 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 | FLNB-D1157N | het unknown | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FLNB-V1471M | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCDC66-D5Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CCDC66-R460Q | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | CCDC66-S606SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CCDC66-E835V | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.063 (benign) |
| 0.25 | CCDC66-L836S | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 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 | BRCA1-S1634G | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-K1183R | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-E1038G | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-P871L | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALS2-V368M | het unknown | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RAI1-G90A | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TNFRSF13B-P251L | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L659V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | FANCD2-P714L | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A1-L140LV | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SLC28A1-D521N | het unknown | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SH3TC2-A468S | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLN5-K368R | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A2-P22L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A2-S75R | het unknown | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SACS-V3369A | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ZNF268-M141L | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF268-T175M | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF268-H724Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZNF268-R860T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | APPL2-A433V | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | APPL2-R119* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | MMAB-M239K | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CYP21A2-R103K | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NIPAL4-R213G | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), 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 | XRCC3-T241M | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.188 (benign) |
| 0.25 | MFSD8-A423V | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.177 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPG11-F463S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NIPBL-N674S | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATXN3-V212M | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-T689A | het unknown | 0.016 | Unknown benign | Low clinical importance, uncertain | Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect. |
| 0.25 | VCAN-K1516R | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-D2937Y | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | C5orf42-F2033C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C5orf42-P1794L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C5orf42-T372S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C5orf42-I371Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0 | MBL2-R52C | het unknown | 0.035 | Recessive pathogenic | Low clinical importance, likely | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C). |
| 0 | PEX26-Y109H | 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 peroxisome dysfunction (neonatal adrenoleukodystrophy, infantile refsum disease, and Zellweger syndrome). |
| 0 | RAF1-I32* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview | |
| 0 | RNASEH2B-I309Shift | het unknown | 0.023 | Recessive pathogenic | High clinical importance, uncertain | Variants in this protein are implicated in causing Aicardi-Goutieres syndrome in a recessive manner, a rare congenital disease in infants that is usually fatal in the first few years. All families with this gene implicated as causal have disruptive substitutions upstream of this location, so it is unclear whether this downstream frameshift mutation would the same pathogenic effect. |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,747,769,875 bases (96.1% of callable positions, 89.2% of total positions)
Coding region coverage: 31,469,988 bases (94.6% of all genes, 95.9% 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