Variant report for hu3A8D13
- Data source: CGI sample GS000003289
- This report: evidence.pgp-hms.org/genomes?9ae15dbac575242134483a5a6cf4cdf15af1b65a
- Person ID: hu3A8D13
- public profile: my.pgp-hms.org/profile/hu3A8D13
- Download: source data, dbSNP and nsSNP report (118 MB)
- Processing status: processing
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | CFTR-G576A | High | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.00474684 | Associated with causing congenital bilateral absence of the vas deferens in a recessive manner. Reported cases were compound heterozygous with CFTR-F508Del. | 1 |
| 2 | SYNE1-E6786Shift | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | This may be rare and may cause cerebellar ataxia in a recessive manner. This is a disruptive variant, but most of reported causal variants have been upstream of this position -- the few reports of causal downstream variants lack statistical significance. This protein is very large, it's possible that truncating variants this far along in the product do not have as severe an effect. | 1 | |
| 3 | 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 |
| 4 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Homozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
| 5 | CETP-A390P | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0388548 | This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl). | 1 |
| 6 | APOA5-S19W | Low | Likely | Likely pathogenic Unknown, Homozygous | 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 |
| 7 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Homozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
| 8 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 9 | MPO-Y173C | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.000557724 | This variant is reported to cause MPO-deficiency, which is generally asymptomatic. MPO-deficiency may cause increased susceptibility to immunodeficiency or antibacterial immune response, but most people with MPO deficiency have no symptoms. This gene is likely to be redundant with other immune mechanisms, and individuals who did have symptoms possibly had additional pathogenic variants in other genes. | 1 |
| 10 | 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 |
| 11 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 12 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.308886 | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). | 1 |
| 13 | ERCC6-R1213G | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.196877 | When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. | 1 |
| 14 | 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 |
| 15 | DYX1C1-E417X | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.20147 | One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive. | 1 |
| 16 | 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 |
| 17 | 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 |
| 18 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
| 19 | CFH-V62I | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.391616 | Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk. | 1 |
| 20 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.295687 | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). | 1 |
| 21 | 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 |
| 22 | ARSA-N350S | Low | Well-established | Well-established benign Unknown, Heterozygous | 0.183199 | This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability. | 1 |
| 23 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 24 | DMD-R2155W | Low | Likely | Likely benign Unknown, Homozygous | 0.0269529 | Probably benign. | 1 |
| 25 | FLT4-N149D | Low | Likely | Likely benign Unknown, Heterozygous | 0.0725056 | Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect. | 1 |
| 26 | PMS2-P470S | Low | Likely | Likely benign Unknown, Heterozygous | 0.374884 | Benign, common variant. | 1 |
| 27 | KEL-T193M | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.0320692 | This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1. | 1 |
| 28 | 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 |
| 29 | GAA-D91N | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.0237033 | This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2. | 1 |
| 30 | GJB3-R32W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.022309 | Probably benign. Although Polyphen 2 predicts it be damaging and some publications suggested it might have a functional effect, others report it to be a fairly common polymorphism and functional studies failed to find a difference between it and wild type. | 1 |
| 31 | PKHD1-G2285E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00223131 | Tentatively classified as benign. Computationally predicted to be disruptive, but this has been seen twice in various unaffected controls and has not among published patients with autosomal recessive polycystic kidney disease, significantly contradicting a severe pathogenic effect. | 1 |
| 32 | ENPP1-R774C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0258412 | Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly pathogenic effect. | 1 |
| 33 | COL5A2-P460S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0400632 | Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous. | 1 |
| 34 | POLG2-G416A | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0119025 | Rare but presumed benign. It was believed to be non-causal in a patient with a different mutation, and functional analysis found no difference from wild type. | 1 |
| 35 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 36 | DSPP-R68W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.143045 | Probably benign. One report linked this to causing dentinogenesis Imperfecta type II in a large Swedish family, but subsequent publications have observed this is a common variant and conclude it is a nonpathogenic polymorphism. | 1 |
| 37 | BRCA1-Q356R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0462911 | One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association. | 1 |
| 38 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 39 | MAPT-R370W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155549 | Probably benign. | 1 |
| 40 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 41 | TYR-S192Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.270682 | This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3). | 1 |
| 42 | 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 |
| 43 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 44 | USH2A-V230M | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.0157092 | This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic). | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 31689318 / 33282720 = 95.21%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.80824372759857 | 1177 | 6138 | 955553-955753, 970682, 970686-970687, 976045, 976090-976115, 976191-976197, 976207-976260, 976553-976745, 976776-976777, 976858-976894, 976909-976919, 976962-976968, 977081, 978700-978708, 978741-978749, 979024-979033, 979046, 979362, 979370-979396, 979545-979549, 981784-981790, 981802-981842, 981888-981908, 981917-982002, 982028-982047, 982279-982282, 982295-982307, 982319-982323, 983208-983210, 983489, 983493, 983497-983498, 983564-983581, 983596-983745, 984632, 984636-984638, 984696-984699, 984975, 985172-985175, 985347, 985613-985624, 986192-986206, 986655-986666, 986672, 986677-986683, 986833-986854, 986878-986891, 986897-986941, 986967-986972, 986983, 986991, 986998, 987018-987024, 990227-990268 |
| 2 | GABRD | 1 | 0.906548933039 | 127 | 1359 | 1950863-1950930, 1957037, 1957040, 1959634-1959652, 1959664-1959667, 1960580-1960581, 1961003-1961010, 1961465, 1961469, 1961484-1961505 |
| 3 | PEX10 | 1 | 0.84199796126402 | 155 | 981 | 2337267, 2337270, 2337931-2337934, 2337943-2337946, 2337977-2337983, 2339979, 2339985-2339987, 2339996-2340003, 2340035-2340042, 2340182-2340213, 2340275-2340279, 2343844-2343867, 2343885-2343941 |
| 4 | NPHP4 | 1 | 0.97337070777856 | 114 | 4281 | 5925202-5925224, 5934579, 5934711-5934716, 5934934-5934939, 5935047-5935048, 5935053, 5935058-5935069, 5935076-5935082, 5935115-5935156, 5964759-5964761, 6021882-6021886, 6021891-6021896 |
| 5 | ESPN | 1 | 0.58830409356725 | 1056 | 2565 | 6485016-6485304, 6488301-6488336, 6488378-6488392, 6500360-6500394, 6500425-6500465, 6500686-6500868, 6501019-6501040, 6505769-6505772, 6505847-6505920, 6505931-6505937, 6508701-6508723, 6508739-6508770, 6508788-6508794, 6508818-6509063, 6509077-6509083, 6511939, 6512105-6512133, 6520062-6520065, 6520135 |
| 6 | PLEKHG5 | 1 | 0.88962057071182 | 352 | 3189 | 6528237-6528248, 6528311, 6529445-6529446, 6530693-6530698, 6530795-6530824, 6530832-6530854, 6530874-6530876, 6530893, 6530937-6530944, 6531104-6531120, 6531648-6531650, 6531687-6531697, 6534109-6534173, 6534183-6534224, 6534511-6534624, 6534638-6534647, 6557380-6557383 |
| 7 | PEX14 | 1 | 0.94091710758377 | 67 | 1134 | 10659335-10659345, 10684415, 10684429-10684473, 10689734, 10689745-10689750, 10690037-10690039 |
| 8 | TARDBP | 1 | 0.96144578313253 | 48 | 1245 | 11082322-11082369 |
| 9 | MASP2 | 1 | 0.99175157690442 | 17 | 2061 | 11087684-11087686, 11103546-11103550, 11105495-11105503 |
| 10 | MTHFR | 1 | 0.98427194317605 | 31 | 1971 | 11853985-11854012, 11861342-11861343, 11861432 |
| 11 | PLOD1 | 1 | 0.98076923076923 | 42 | 2184 | 11994837-11994838, 11994847-11994868, 11994889, 12018655-12018659, 12023605-12023606, 12024754-12024755, 12024768-12024769, 12034794, 12034798-12034802 |
| 12 | MFN2 | 1 | 0.99032541776605 | 22 | 2274 | 12067117-12067128, 12067136, 12067154-12067156, 12067210-12067212, 12069690-12069692 |
| 13 | CLCNKA | 1 | 0.93168604651163 | 141 | 2064 | 16351346-16351376, 16353071-16353096, 16353245-16353251, 16353846-16353852, 16355302-16355307, 16355314-16355324, 16357038-16357044, 16358704, 16358719-16358763 |
| 14 | CLCNKB | 1 | 0.97868217054264 | 44 | 2064 | 16373033-16373035, 16374411-16374425, 16374486-16374494, 16374513-16374517, 16378809-16378812, 16382193-16382200 |
| 15 | ATP13A2 | 1 | 0.97008185153824 | 106 | 3543 | 17312716-17312723, 17312731, 17313001, 17313005, 17313353-17313354, 17313376-17313379, 17313565-17313581, 17313598-17313657, 17313679-17313680, 17313683, 17314729, 17314856, 17318291-17318292, 17322614-17322616, 17326615-17326616 |
| 16 | ALDH4A1 | 1 | 0.99290780141844 | 12 | 1692 | 19201882, 19203971-19203976, 19204064-19204066, 19204098, 19211969 |
| 17 | PINK1 | 1 | 0.77835051546392 | 387 | 1746 | 20960042-20960428 |
| 18 | ALPL | 1 | 0.9968253968254 | 5 | 1575 | 21903938-21903942 |
| 19 | HSPG2 | 1 | 0.98436551305404 | 206 | 13176 | 22155904, 22155979, 22156551-22156552, 22157523-22157525, 22159099, 22165434-22165436, 22165450-22165460, 22165464, 22165894-22165897, 22165901-22165911, 22165934, 22167642-22167643, 22167650-22167653, 22167752-22167757, 22170668, 22175506-22175507, 22181218-22181219, 22181415-22181449, 22181472-22181476, 22182332-22182333, 22190680-22190681, 22198835-22198841, 22199136, 22199141-22199144, 22199523-22199529, 22206645-22206652, 22206903, 22207255-22207262, 22213738-22213741, 22213913-22213915, 22263648-22263710 |
| 20 | WNT4 | 1 | 0.90340909090909 | 102 | 1056 | 22446598, 22446716, 22446719, 22446742-22446747, 22446852, 22446855, 22446933-22446942, 22446956, 22447992-22447993, 22447997, 22469339-22469415 |
| 21 | RPL11 | 1 | 0.99813780260708 | 1 | 537 | 24019113 |
| 22 | GALE | 1 | 0.97994269340974 | 21 | 1047 | 24122643-24122661, 24122751, 24123242 |
| 23 | HMGCL | 1 | 0.99386503067485 | 6 | 978 | 24134719-24134724 |
| 24 | FUCA1 | 1 | 0.98429693076374 | 22 | 1401 | 24189724-24189726, 24194503-24194509, 24194745-24194755, 24194762 |
| 25 | LDLRAP1 | 1 | 0.87270765911543 | 118 | 927 | 25870190-25870277, 25890158-25890169, 25890192-25890199, 25893339-25893342, 25893478-25893483 |
| 26 | SEPN1 | 1 | 0.88968824940048 | 184 | 1668 | 26126722-26126904, 26139240 |
| 27 | HPCA | 1 | 0.86254295532646 | 80 | 582 | 33359373-33359412, 33359419-33359458 |
| 28 | GJB4 | 1 | 0.99625468164794 | 3 | 801 | 35227530-35227532 |
| 29 | COL9A2 | 1 | 0.95217391304348 | 99 | 2070 | 40768376-40768394, 40769308, 40769311, 40769333, 40777355-40777387, 40781305-40781316, 40782838-40782869 |
| 30 | KCNQ4 | 1 | 0.84961685823755 | 314 | 2088 | 41249766-41249932, 41249975-41249994, 41249999-41250003, 41284177-41284195, 41284253-41284317, 41296799-41296813, 41296821-41296828, 41300727, 41303999-41304002, 41304103-41304104, 41304160-41304167 |
| 31 | CLDN19 | 1 | 0.96740740740741 | 22 | 675 | 43201570-43201577, 43201662-43201668, 43204223-43204229 |
| 32 | LEPRE1 | 1 | 0.89190411578471 | 239 | 2211 | 43232249-43232298, 43232330-43232350, 43232420-43232458, 43232466-43232530, 43232542-43232564, 43232595-43232602, 43232610-43232642 |
| 33 | SLC2A1 | 1 | 0.98309668695064 | 25 | 1479 | 43395280-43395283, 43396376-43396382, 43396402, 43424310-43424322 |
| 34 | MPL | 1 | 0.96278825995807 | 71 | 1908 | 43803883-43803889, 43806158-43806169, 43814958-43815008, 43815022 |
| 35 | MUTYH | 1 | 0.98024219247929 | 31 | 1569 | 45796912-45796914, 45797119, 45797138, 45797207-45797215, 45797220-45797221, 45797969-45797975, 45798071, 45798304-45798310 |
| 36 | MMACHC | 1 | 0.99528857479388 | 4 | 849 | 45974512-45974513, 45974679, 45974743 |
| 37 | POMGNT1 | 1 | 0.99899142713061 | 2 | 1983 | 46660261, 46662492 |
| 38 | STIL | 1 | 0.99974140160331 | 1 | 3867 | 47765815 |
| 39 | ORC1 | 1 | 0.99961330239753 | 1 | 2586 | 52847384 |
| 40 | CPT2 | 1 | 0.99140111279717 | 17 | 1977 | 53662630, 53662633, 53662681-53662685, 53662692-53662694, 53662699-53662700, 53662719, 53662757, 53676858, 53678977, 53679099 |
| 41 | DHCR24 | 1 | 0.85364281108962 | 227 | 1551 | 55341696-55341699, 55352562-55352741, 55352750-55352792 |
| 42 | BSND | 1 | 0.99896157840083 | 1 | 963 | 55473985 |
| 43 | PCSK9 | 1 | 0.91822991822992 | 170 | 2079 | 55505535-55505589, 55509598-55509605, 55521675-55521732, 55524244-55524268, 55527136-55527150, 55529160, 55529184, 55529210-55529216 |
| 44 | LEPR | 1 | 0.99971412235563 | 1 | 3498 | 66070895 |
| 45 | ACADM | 1 | 0.99921752738654 | 1 | 1278 | 76228447 |
| 46 | GLMN | 1 | 0.99943977591036 | 1 | 1785 | 92733491 |
| 47 | ABCA4 | 1 | 0.99076517150396 | 63 | 6822 | 94461699, 94467425-94467435, 94497392-94497427, 94502731-94502737, 94508932-94508936, 94508945, 94508948, 94508958 |
| 48 | COL11A1 | 1 | 0.98167491295584 | 100 | 5457 | 103363683, 103363686, 103363689, 103364222-103364243, 103364282-103364298, 103364534, 103364549-103364550, 103380267, 103380296-103380305, 103380310-103380311, 103387107, 103400015-103400021, 103471445-103471446, 103471836-103471851, 103471859-103471871, 103496731-103496732, 103496742 |
| 49 | NGF | 1 | 0.99862258953168 | 1 | 726 | 115828761 |
| 50 | HMGCS2 | 1 | 0.9901768172888 | 15 | 1527 | 120301758-120301772 |
| 51 | NOTCH2 | 1 | 0.98624595469256 | 102 | 7416 | 120539684-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120572609-120572610, 120611957-120611967, 120612001-120612010 |
| 52 | FLG | 1 | 0.94395207615296 | 683 | 12186 | 152276178-152276207, 152276268, 152276307-152276323, 152276345-152276389, 152276459, 152276580-152276601, 152276613-152276649, 152276668-152276702, 152276758-152276775, 152276823, 152276868-152276910, 152277014, 152277021, 152277027, 152277035, 152277044, 152277055, 152277084-152277085, 152277090, 152277106, 152277165-152277171, 152277368-152277399, 152277434, 152277567-152277573, 152277714-152277720, 152277884, 152278044-152278053, 152278238-152278247, 152278342, 152278406, 152278434, 152278552-152278558, 152278686-152278692, 152278811-152278817, 152279016-152279022, 152279360, 152279726-152279746, 152279778-152279784, 152280081-152280090, 152280167-152280188, 152280262-152280268, 152280468-152280474, 152280556-152280576, 152280646-152280652, 152280733-152280762, 152280782, 152280788, 152280861-152280867, 152281039, 152281225-152281231, 152281301-152281307, 152281635, 152281767-152281804, 152281848-152281849, 152281935-152281951, 152282101-152282113, 152282294-152282305, 152283101-152283105, 152283233-152283239, 152283272, 152284152, 152284209-152284210, 152284374-152284380, 152284851-152284888, 152285134-152285140, 152285188, 152285806-152285812, 152286180 |
| 53 | TPM3 | 1 | 0.9988344988345 | 1 | 858 | 154148645 |
| 54 | CHRNB2 | 1 | 0.9662027833002 | 51 | 1509 | 154540530-154540559, 154544120, 154544124, 154544231-154544233, 154544246-154544249, 154544264-154544270, 154544377, 154544381-154544383, 154544538 |
| 55 | PKLR | 1 | 0.99188405797101 | 14 | 1725 | 155263046-155263047, 155264414-155264419, 155269981, 155269989-155269992, 155269996 |
| 56 | LMNA | 1 | 0.99823633156966 | 1 | 567 | 156105715 |
| 57 | LMNA | 1 | 0.99398496240602 | 12 | 1995 | 156084735-156084745, 156105715 |
| 58 | SEMA4A | 1 | 0.96981627296588 | 69 | 2286 | 156124444-156124454, 156131137, 156131206-156131213, 156131223-156131237, 156131259, 156146288-156146292, 156146444-156146445, 156146518-156146543 |
| 59 | NTRK1 | 1 | 0.92722710163112 | 174 | 2391 | 156830727-156830821, 156830831-156830843, 156830848-156830870, 156837934, 156843439-156843456, 156843461-156843462, 156843584-156843601, 156843625, 156843635-156843637 |
| 60 | ATP1A2 | 1 | 0.99608227228208 | 12 | 3063 | 160104947-160104951, 160104962-160104964, 160105324-160105327 |
| 61 | PPOX | 1 | 0.99721059972106 | 4 | 1434 | 161139480-161139481, 161139504-161139505 |
| 62 | NDUFS2 | 1 | 0.99568965517241 | 6 | 1392 | 161172213-161172218 |
| 63 | MPZ | 1 | 0.97554697554698 | 19 | 777 | 161275745, 161275906-161275915, 161276137, 161276142-161276143, 161276147, 161276150, 161279693-161279695 |
| 64 | DDR2 | 1 | 0.99727414330218 | 7 | 2568 | 162722971-162722977 |
| 65 | TBX19 | 1 | 0.99628804751299 | 5 | 1347 | 168281987-168281991 |
| 66 | SLC19A2 | 1 | 0.98929049531459 | 16 | 1494 | 169454851, 169454884-169454898 |
| 67 | FMO3 | 1 | 0.99437148217636 | 9 | 1599 | 171077348-171077356 |
| 68 | MYOC | 1 | 0.97425742574257 | 39 | 1515 | 171621170-171621183, 171621407, 171621420, 171621470-171621472, 171621477-171621479, 171621485-171621490, 171621496, 171621505-171621509, 171621591-171621594, 171621689 |
| 69 | FASLG | 1 | 0.95744680851064 | 36 | 846 | 172628401-172628435, 172628683 |
| 70 | NPHS2 | 1 | 0.87239583333333 | 147 | 1152 | 179520529-179520536, 179521761, 179544822-179544826, 179544862-179544967, 179544973-179544999 |
| 71 | RNASEL | 1 | 0.98337825696316 | 37 | 2226 | 182554948-182554950, 182555109-182555119, 182555169-182555176, 182555185-182555191, 182555215-182555219, 182555280-182555282 |
| 72 | LAMC2 | 1 | 0.99609156895589 | 14 | 3582 | 183201447-183201460 |
| 73 | NCF2 | 1 | 0.99936748893106 | 1 | 1581 | 183532615 |
| 74 | HMCN1 | 1 | 0.99781168677549 | 37 | 16908 | 185891532-185891537, 185891576-185891579, 185897776-185897779, 186037117-186037118, 186062621-186062630, 186062640-186062647, 186157044-186157046 |
| 75 | CDC73 | 1 | 0.9968671679198 | 5 | 1596 | 193111040-193111044 |
| 76 | CFH | 1 | 0.9978354978355 | 8 | 3696 | 196682916, 196716389-196716395 |
| 77 | CFHR1 | 1 | 0.97683786505539 | 23 | 993 | 196796096-196796116, 196797244, 196799643 |
| 78 | CFHR5 | 1 | 0.99941520467836 | 1 | 1710 | 196967323 |
| 79 | ASPM | 1 | 0.99731646540157 | 28 | 10434 | 197069785, 197073347, 197073724-197073728, 197086955-197086974, 197094081 |
| 80 | CRB1 | 1 | 0.99952617863066 | 2 | 4221 | 197411413-197411414 |
| 81 | CACNA1S | 1 | 0.99626467449306 | 21 | 5622 | 201038651-201038652, 201038656, 201038659, 201081316-201081332 |
| 82 | CHIT1 | 1 | 0.99785867237687 | 3 | 1401 | 203191451-203191453 |
| 83 | CD46 | 1 | 0.99916666666667 | 1 | 1200 | 207930402 |
| 84 | LAMB3 | 1 | 0.99289570900824 | 25 | 3519 | 209795956, 209795963, 209797006-209797007, 209800769-209800773, 209800783-209800788, 209800890, 209800894-209800902 |
| 85 | USH2A | 1 | 0.99417003011083 | 91 | 15609 | 215848180-215848181, 215916534-215916545, 215916593-215916596, 216061802-216061807, 216061844-216061847, 216061855-216061856, 216061861-216061862, 216138743-216138765, 216138776-216138778, 216251496-216251499, 216496816, 216496826-216496829, 216496834, 216496910-216496927, 216595461-216595465 |
| 86 | PSEN2 | 1 | 0.97921306607275 | 28 | 1347 | 227069674-227069701 |
| 87 | ADCK3 | 1 | 0.98353909465021 | 32 | 1944 | 227152837-227152840, 227152877-227152878, 227152899-227152900, 227152906, 227152912, 227152916-227152917, 227152920-227152922, 227153427-227153431, 227171800-227171805, 227171906-227171910, 227172249 |
| 88 | GJC2 | 1 | 0.13181818181818 | 1146 | 1320 | 228345526-228345539, 228345556-228346562, 228346573-228346585, 228346597-228346645, 228346653-228346688, 228346701-228346724, 228346752, 228346755, 228346759 |
| 89 | ACTA1 | 1 | 0.79717813051146 | 230 | 1134 | 229567496, 229567642-229567649, 229567767-229567768, 229567793-229567827, 229567834-229567932, 229568042-229568050, 229568065-229568101, 229568111-229568138, 229568148-229568149, 229568153-229568156, 229568173, 229568453-229568456 |
| 90 | AGT | 1 | 0.96502057613169 | 51 | 1458 | 230838946-230838947, 230845769-230845798, 230845912-230845924, 230846048-230846050, 230846564-230846566 |
| 91 | LYST | 1 | 0.99570401543048 | 49 | 11406 | 235866159-235866162, 235907456-235907457, 235922367, 235933521-235933522, 235969193-235969211, 235969325, 235972391-235972394, 235972432-235972441, 235973121, 235973215-235973219 |
| 92 | ACTN2 | 1 | 0.94227188081937 | 155 | 2685 | 236849974-236850099, 236902812, 236908067, 236914812-236914827, 236917290-236917300 |
| 93 | MTR | 1 | 0.98894154818325 | 42 | 3798 | 237054564-237054581, 237058731-237058736, 237058743-237058751, 237060344-237060349, 237060942-237060944 |
| 94 | RYR2 | 1 | 0.99228395061728 | 115 | 14904 | 237205835-237205838, 237205853-237205869, 237656293-237656311, 237656317, 237729890-237729935, 237791156-237791162, 237791251, 237791255, 237796908, 237821299, 237863699, 237872312-237872321, 237948014-237948018, 237961466 |
| 95 | FH | 1 | 0.99151989562948 | 13 | 1533 | 241672048-241672054, 241682892, 241682965-241682969 |
| 96 | NLRP3 | 1 | 0.99903567984571 | 3 | 3111 | 247587788-247587789, 247588418 |
| 97 | NET1 | 10 | 0.99609156895589 | 7 | 1791 | 5454683-5454689 |
| 98 | GATA3 | 10 | 0.98651685393258 | 18 | 1335 | 8097731, 8097734-8097745, 8100735-8100739 |
| 99 | OPTN | 10 | 0.99942329873126 | 1 | 1734 | 13160933 |
| 100 | PHYH | 10 | 0.94198623402163 | 59 | 1017 | 13341970-13342007, 13342015-13342033, 13342041-13342042 |
| 101 | CUBN | 10 | 0.9957689477557 | 46 | 10872 | 16960779, 16982093, 17032405, 17032408, 17085842-17085864, 17085922-17085925, 17085932-17085935, 17146552-17146561, 17147528 |
| 102 | PTF1A | 10 | 0.28368794326241 | 707 | 987 | 23481460-23482158, 23482180-23482187 |
| 103 | MYO3A | 10 | 0.99422799422799 | 28 | 4851 | 26241048, 26241139-26241151, 26359250-26359263 |
| 104 | PDSS1 | 10 | 0.9150641025641 | 106 | 1248 | 26986664-26986769 |
| 105 | MASTL | 10 | 0.99393249905195 | 16 | 2637 | 27458906, 27459250-27459264 |
| 106 | RET | 10 | 0.96173393124066 | 128 | 3345 | 43572707-43572779, 43598071-43598076, 43600421, 43600461, 43600518-43600519, 43600565-43600568, 43600578-43600583, 43600590-43600616, 43606744, 43606752-43606755, 43606909, 43610128, 43613847 |
| 107 | ERCC6 | 10 | 0.98371262829094 | 73 | 4482 | 50679021-50679033, 50691451-50691454, 50738819-50738832, 50740775-50740816 |
| 108 | CHAT | 10 | 0.88473520249221 | 259 | 2247 | 50822236-50822254, 50822260-50822495, 50833656-50833659 |
| 109 | PCDH15 | 10 | 0.99864153506538 | 8 | 5889 | 55587268-55587269, 55591247, 55626431-55626435 |
| 110 | EGR2 | 10 | 0.9706498951782 | 42 | 1431 | 64573109, 64573112, 64573353-64573382, 64573472-64573480, 64573575 |
| 111 | KIAA1279 | 10 | 0.9989281886388 | 2 | 1866 | 70748772-70748773 |
| 112 | NODAL | 10 | 0.97126436781609 | 30 | 1044 | 72201231-72201248, 72201345, 72201352-72201362 |
| 113 | PRF1 | 10 | 0.93225419664269 | 113 | 1668 | 72358230, 72358237, 72358241-72358254, 72358273-72358280, 72358339-72358352, 72358431-72358441, 72358458-72358503, 72358509-72358519, 72358652-72358658 |
| 114 | PCBD1 | 10 | 0.99047619047619 | 3 | 315 | 72648288-72648290 |
| 115 | SLC29A3 | 10 | 0.99929971988796 | 1 | 1428 | 73079067 |
| 116 | CDH23 | 10 | 0.9942322991249 | 58 | 10056 | 73375321-73375324, 73375329-73375337, 73490243, 73550117, 73550124-73550150, 73563025, 73565972-73565977, 73565986-73565989, 73567441-73567444, 73574921 |
| 117 | PSAP | 10 | 0.99936507936508 | 1 | 1575 | 73579507 |
| 118 | VCL | 10 | 0.94625550660793 | 183 | 3405 | 75757966-75757994, 75758039-75758083, 75758096-75758132, 75854056, 75854059, 75854074-75854115, 75864938-75864956, 75867066-75867069, 75873963-75873967 |
| 119 | RGR | 10 | 0.98873873873874 | 10 | 888 | 86017670-86017679 |
| 120 | LDB3 | 10 | 0.8974358974359 | 224 | 2184 | 88466313, 88466321-88466322, 88476087-88476092, 88476179-88476206, 88476246, 88476253-88476256, 88476270-88476271, 88476288-88476327, 88476343-88476432, 88476445-88476494 |
| 121 | GLUD1 | 10 | 0.76624925462135 | 392 | 1677 | 88836362-88836368, 88854082-88854289, 88854330-88854409, 88854430-88854526 |
| 122 | LIPA | 10 | 0.99416666666667 | 7 | 1200 | 91007357-91007363 |
| 123 | PLCE1 | 10 | 0.99985526125344 | 1 | 6909 | 96025565 |
| 124 | ZFYVE27 | 10 | 0.99271844660194 | 9 | 1236 | 99504560-99504566, 99512911-99512912 |
| 125 | HPS1 | 10 | 0.97625830959164 | 50 | 2106 | 100177341, 100177345-100177353, 100177371-100177388, 100177406-100177426, 100185613 |
| 126 | COX15 | 10 | 0.98783454987835 | 15 | 1233 | 101476124-101476126, 101476129, 101491728-101491736, 101491751-101491752 |
| 127 | ABCC2 | 10 | 0.9997843898232 | 1 | 4638 | 101610366 |
| 128 | PAX2 | 10 | 0.98768283294842 | 16 | 1299 | 102587333-102587348 |
| 129 | FBXW4 | 10 | 0.92493946731235 | 93 | 1239 | 103371105, 103371117-103371119, 103371131-103371152, 103371470-103371471, 103454149-103454175, 103454192-103454198, 103454207-103454236, 103454319 |
| 130 | HPS6 | 10 | 0.69974226804124 | 699 | 2328 | 103825232-103825586, 103825609-103825634, 103825651-103825838, 103825847-103825895, 103825924-103825925, 103825929-103825934, 103826015-103826018, 103826024-103826030, 103826172-103826180, 103826239-103826257, 103826279, 103826305-103826309, 103826392, 103826395, 103826399-103826400, 103826404, 103826419, 103826702-103826705, 103826779-103826788, 103826793, 103826997-103827003 |
| 131 | SUFU | 10 | 0.93539518900344 | 94 | 1455 | 104263910-104263934, 104263941-104263951, 104263970-104264013, 104264073-104264076, 104352404-104352412, 104353442 |
| 132 | CYP17A1 | 10 | 0.99869024230517 | 2 | 1527 | 104592297-104592298 |
| 133 | COL17A1 | 10 | 0.99399198931909 | 27 | 4494 | 105816810-105816815, 105816849-105816869 |
| 134 | EMX2 | 10 | 0.78656126482213 | 162 | 759 | 119302788-119302814, 119302821-119302874, 119302888-119302894, 119302926-119302977, 119302984-119303004, 119303100 |
| 135 | BAG3 | 10 | 0.86458333333333 | 234 | 1728 | 121411188-121411367, 121429603-121429604, 121429678, 121431929-121431964, 121436316, 121436549, 121436626-121436638 |
| 136 | HTRA1 | 10 | 0.71448371448371 | 412 | 1443 | 124221169-124221507, 124221562-124221607, 124221617-124221640, 124271566-124271568 |
| 137 | ACADSB | 10 | 0.99615088529638 | 5 | 1299 | 124768578-124768582 |
| 138 | TALDO1 | 11 | 0.88461538461538 | 117 | 1014 | 747482-747504, 747512-747578, 763344-763352, 763366-763373, 763388-763394, 763402-763404 |
| 139 | SLC25A22 | 11 | 0.85288065843621 | 143 | 972 | 792318-792324, 792407, 792609-792697, 792887-792888, 792891, 792936-792948, 794776-794805 |
| 140 | PNPLA2 | 11 | 0.85148514851485 | 225 | 1515 | 819719-819905, 822501, 824025-824028, 824067-824068, 824378-824379, 824382, 824427, 824431, 824530, 824653, 824658-824659, 824662-824663, 824728-824739, 824853-824860 |
| 141 | CTSD | 11 | 0.91686844229217 | 103 | 1239 | 1775327-1775368, 1785024-1785028, 1785034-1785089 |
| 142 | TNNI2 | 11 | 0.9143897996357 | 47 | 549 | 1861633-1861669, 1861758-1861760, 1862346-1862351, 1862363 |
| 143 | TNNT3 | 11 | 0.98455598455598 | 12 | 777 | 1954970-1954971, 1954981-1954986, 1954999, 1955002, 1955016, 1955234 |
| 144 | H19 | 11 | 0.90849673202614 | 98 | 1071 | 2017608-2017612, 2017619, 2017822-2017832, 2017938-2017954, 2017964-2017984, 2018336-2018366, 2018374-2018385 |
| 145 | IGF2 | 11 | 0.80168776371308 | 141 | 711 | 2154250-2154254, 2154301, 2154305-2154306, 2154323, 2154377, 2161365-2161369, 2161376-2161459, 2161469-2161499, 2161513-2161523 |
| 146 | TH | 11 | 0.90031746031746 | 157 | 1575 | 2187751-2187779, 2187863-2187865, 2187888-2187894, 2187902, 2187916, 2187922, 2187975-2187992, 2191015-2191046, 2191932-2191936, 2191942-2192000, 2192987 |
| 147 | KCNQ1 | 11 | 0.83948793697686 | 326 | 2031 | 2466329-2466518, 2466530-2466552, 2466576-2466668, 2466698-2466714, 2606522, 2609943-2609944 |
| 148 | CDKN1C | 11 | 0.22923238696109 | 733 | 951 | 2905246-2905290, 2905361-2905364, 2905900-2906475, 2906494-2906498, 2906504-2906514, 2906532-2906540, 2906566-2906571, 2906578-2906592, 2906610-2906629, 2906665-2906699, 2906713-2906719 |
| 149 | SMPD1 | 11 | 0.95727848101266 | 81 | 1896 | 6411932-6411939, 6411948, 6411953-6411962, 6412739-6412742, 6412750-6412755, 6412762-6412772, 6412797, 6412856, 6412868-6412871, 6412879-6412903, 6413185-6413188, 6413199-6413202, 6413216, 6413221 |
| 150 | SBF2 | 11 | 0.98720720720721 | 71 | 5550 | 9809192-9809207, 10315562-10315616 |
| 151 | ABCC8 | 11 | 0.99641803624105 | 17 | 4746 | 17424245, 17449836-17449847, 17464380, 17482103, 17482107-17482108 |
| 152 | USH1C | 11 | 0.93962962962963 | 163 | 2700 | 17517125-17517131, 17522616, 17522620-17522621, 17522645-17522655, 17530903-17530914, 17531071, 17531122-17531139, 17531164-17531208, 17531295-17531334, 17531981-17531986, 17542447-17542450, 17544406-17544415, 17565849-17565854 |
| 153 | LDHA | 11 | 0.998998998999 | 1 | 999 | 18422460 |
| 154 | SLC6A5 | 11 | 0.99916457811195 | 2 | 2394 | 20622875, 20623005 |
| 155 | ANO5 | 11 | 0.99416484318016 | 16 | 2742 | 22248910-22248916, 22248920-22248927, 22277012 |
| 156 | FANCF | 11 | 0.98755555555556 | 14 | 1125 | 22646835-22646841, 22646998-22647003, 22647255 |
| 157 | PAX6 | 11 | 0.97714736012608 | 29 | 1269 | 31811482-31811483, 31824314-31824339, 31824345 |
| 158 | WT1 | 11 | 0.77477477477477 | 350 | 1554 | 32417942, 32456322-32456334, 32456503-32456526, 32456532, 32456581-32456891 |
| 159 | RAG1 | 11 | 0.99712643678161 | 9 | 3132 | 36595059-36595061, 36595441-36595444, 36595447, 36595485 |
| 160 | ALX4 | 11 | 0.87378640776699 | 156 | 1236 | 44286595-44286606, 44286674-44286701, 44331147-44331180, 44331217, 44331223, 44331237, 44331246, 44331261-44331312, 44331344-44331347, 44331351-44331355, 44331376, 44331379, 44331384, 44331388-44331389, 44331394-44331395, 44331401, 44331406-44331413, 44331608 |
| 161 | SLC35C1 | 11 | 0.76420454545455 | 249 | 1056 | 45827411-45827421, 45827428-45827429, 45827433-45827435, 45827523-45827678, 45827789-45827829, 45827835-45827847, 45827870-45827887, 45832327-45832331 |
| 162 | PEX16 | 11 | 0.97502401536984 | 26 | 1041 | 45935911, 45937369-45937375, 45939264-45939266, 45939273-45939285, 45939296-45939297 |
| 163 | DDB2 | 11 | 0.99454828660436 | 7 | 1284 | 47236782-47236788 |
| 164 | MADD | 11 | 0.99595469255663 | 20 | 4944 | 47303149, 47307017-47307028, 47311432-47311438 |
| 165 | MYBPC3 | 11 | 0.99895424836601 | 4 | 3825 | 47368185-47368188 |
| 166 | SLC39A13 | 11 | 0.93637992831541 | 71 | 1116 | 47431772-47431805, 47433911-47433926, 47434970-47434977, 47434986-47434988, 47434994-47434995, 47434998, 47435006, 47435039-47435043, 47435171 |
| 167 | RAPSN | 11 | 0.99031476997579 | 12 | 1239 | 47459582, 47463197, 47463446, 47464361-47464366, 47469535, 47469662, 47470350 |
| 168 | SERPING1 | 11 | 0.96407185628743 | 54 | 1503 | 57365744-57365792, 57381927-57381931 |
| 169 | TMEM216 | 11 | 0.99621212121212 | 1 | 264 | 61165447 |
| 170 | BEST1 | 11 | 0.99431171786121 | 10 | 1758 | 61719375, 61723219, 61723254, 61723279-61723283, 61723398-61723399 |
| 171 | ROM1 | 11 | 0.98011363636364 | 21 | 1056 | 62380776-62380780, 62380785-62380790, 62381101, 62381223, 62381236, 62381240-62381244, 62381256-62381257 |
| 172 | BSCL2 | 11 | 0.98416126709863 | 22 | 1389 | 62457921, 62457945-62457965 |
| 173 | SLC22A12 | 11 | 0.95908543922984 | 68 | 1662 | 64359166-64359178, 64367254-64367255, 64367264-64367312, 64367351-64367354 |
| 174 | PYGM | 11 | 0.97746144721234 | 57 | 2529 | 64521043-64521055, 64521125-64521144, 64521407-64521408, 64527128-64527149 |
| 175 | MEN1 | 11 | 0.99621212121212 | 7 | 1848 | 64572099, 64577523-64577527, 64577574 |
| 176 | RNASEH2C | 11 | 0.97979797979798 | 10 | 495 | 65487538-65487539, 65487862-65487868, 65487874 |
| 177 | EFEMP2 | 11 | 0.9954954954955 | 6 | 1332 | 65639816, 65639820-65639824 |
| 178 | CST6 | 11 | 0.84 | 72 | 450 | 65779602-65779607, 65780297-65780323, 65780370-65780373, 65780380-65780390, 65780392-65780415 |
| 179 | BBS1 | 11 | 0.99719416386083 | 5 | 1782 | 66281987-66281988, 66298373-66298375 |
| 180 | SPTBN2 | 11 | 0.96319531576746 | 264 | 7173 | 66453475-66453486, 66453491-66453495, 66455062, 66455065, 66457726-66457754, 66458825-66458829, 66458922-66458925, 66458976, 66460535-66460538, 66460834-66460861, 66461290-66461298, 66468075-66468079, 66468258-66468261, 66468266-66468267, 66468271, 66468306-66468308, 66468316-66468320, 66468349, 66468727, 66472242-66472243, 66472249-66472251, 66472270-66472295, 66472506-66472527, 66472600-66472642, 66472741-66472758, 66473190-66473193, 66473276-66473294, 66473299, 66481787-66481788, 66483375-66483376, 66483381 |
| 181 | PC | 11 | 0.98388464800679 | 57 | 3537 | 66618281, 66618324-66618326, 66618375, 66618577, 66620055-66620062, 66620096-66620100, 66620115, 66620122-66620125, 66633677-66633700, 66633818-66633820, 66638828-66638830, 66638845, 66638893, 66639187 |
| 182 | AIP | 11 | 0.87915407854985 | 120 | 993 | 67257530-67257578, 67257799-67257826, 67257833-67257849, 67258281-67258298, 67258388-67258395 |
| 183 | NDUFS8 | 11 | 0.94628751974724 | 34 | 633 | 67799793-67799803, 67803838, 67803929-67803930, 67803937-67803944, 67804049-67804060 |
| 184 | TCIRG1 | 11 | 0.97513036502206 | 62 | 2493 | 67810270-67810275, 67810286-67810290, 67811321-67811330, 67811335-67811339, 67811345-67811354, 67811650-67811657, 67816574-67816584, 67816674-67816677, 67817165-67817167 |
| 185 | LRP5 | 11 | 0.94100660066007 | 286 | 4848 | 68080183-68080273, 68131215-68131230, 68131362-68131395, 68133055-68133066, 68133140-68133170, 68153846-68153849, 68154084-68154092, 68154094, 68154103-68154108, 68181290, 68193550, 68201246-68201255, 68206055, 68207277-68207280, 68207331-68207366, 68207378-68207384, 68216406-68216427 |
| 186 | CPT1A | 11 | 0.99698535745047 | 7 | 2322 | 68552388, 68564355-68564358, 68564363, 68564372 |
| 187 | IGHMBP2 | 11 | 0.99496981891348 | 15 | 2982 | 68671422, 68704332-68704340, 68704346, 68704419-68704422 |
| 188 | DHCR7 | 11 | 0.90126050420168 | 141 | 1428 | 71146456-71146487, 71146512-71146516, 71146542-71146610, 71146662-71146696 |
| 189 | LRTOMT | 11 | 0.99200913242009 | 7 | 876 | 71816021-71816023, 71819810-71819813 |
| 190 | MYO7A | 11 | 0.99578820697954 | 28 | 6648 | 76885824, 76890831-76890847, 76893199-76893200, 76903167-76903170, 76914114, 76922295, 76922363-76922364 |
| 191 | FZD4 | 11 | 0.97026022304833 | 48 | 1614 | 86662884-86662886, 86665919-86665922, 86666078-86666118 |
| 192 | MTMR2 | 11 | 0.99378881987578 | 12 | 1932 | 95657107-95657118 |
| 193 | TRPC6 | 11 | 0.99964234620887 | 1 | 2796 | 101454177 |
| 194 | DYNC2H1 | 11 | 0.99258400926999 | 96 | 12945 | 102991430, 102991529-102991531, 103014111-103014114, 103027192, 103044002-103044005, 103052544, 103052557-103052559, 103052601-103052615, 103057045-103057084, 103090663-103090664, 103092831-103092837, 103116027, 103158307, 103182660, 103191912-103191923 |
| 195 | ACAT1 | 11 | 0.99610591900312 | 5 | 1284 | 107992377-107992381 |
| 196 | ATM | 11 | 0.99978192127358 | 2 | 9171 | 108163474-108163475 |
| 197 | RDX | 11 | 0.99600456621005 | 7 | 1752 | 110108230-110108236 |
| 198 | ALG9 | 11 | 0.95479302832244 | 83 | 1836 | 111742083-111742145, 111742147-111742159, 111742172-111742178 |
| 199 | PTS | 11 | 0.99771689497717 | 1 | 438 | 112097175 |
| 200 | DRD2 | 11 | 0.99924924924925 | 1 | 1332 | 113281449 |
| 201 | APOA1 | 11 | 0.95771144278607 | 34 | 804 | 116706524-116706527, 116706712, 116706729-116706730, 116706736-116706741, 116706777-116706784, 116706800-116706804, 116706886-116706892, 116708062 |
| 202 | SLC37A4 | 11 | 0.99531835205993 | 5 | 1068 | 118897364-118897367, 118897371 |
| 203 | DPAGT1 | 11 | 0.98125509372453 | 23 | 1227 | 118971349-118971362, 118971368-118971372, 118972264, 118972316-118972318 |
| 204 | ROBO3 | 11 | 0.95313626532084 | 195 | 4161 | 124735543-124735574, 124735581-124735589, 124738873, 124738888-124738893, 124738901, 124738930-124738938, 124745560, 124745931-124745975, 124745999, 124746190-124746205, 124746256-124746265, 124746271-124746325, 124750445-124750453 |
| 205 | ACAD8 | 11 | 0.99919871794872 | 1 | 1248 | 134123537 |
| 206 | WNK1 | 12 | 0.97384249545391 | 187 | 7149 | 862844-862858, 862863-862871, 862878-862885, 862897-862900, 862975-862992, 863160, 863166-863171, 863220-863244, 863252-863275, 863281-863308, 989152-989156, 994349-994360, 994366-994371, 994796-994812, 1006687, 1017013-1017016, 1017022-1017023, 1017067-1017068 |
| 207 | CACNA2D4 | 12 | 0.98828353837141 | 40 | 3414 | 1902904-1902905, 1904899, 1904903, 1910238, 1994153-1994156, 2027512-2027542 |
| 208 | CACNA1C | 12 | 0.97972869989331 | 133 | 6561 | 2693732-2693733, 2705113-2705116, 2788728-2788730, 2791762-2791766, 2791777-2791792, 2794934-2794940, 2795332-2795342, 2797692, 2797706, 2797709, 2797716-2797719, 2797732, 2797805-2797850, 2797887-2797892, 2800289-2800298, 2800304-2800307, 2800313-2800316, 2800354-2800358, 2800364-2800365 |
| 209 | KCNA1 | 12 | 0.99798387096774 | 3 | 1488 | 5020587, 5020834-5020835 |
| 210 | VWF | 12 | 0.97097844112769 | 245 | 8442 | 6058218-6058221, 6122706-6122730, 6125717, 6125721-6125724, 6126023, 6126036, 6127532-6127538, 6127655-6127661, 6127940-6127946, 6128064-6128087, 6128502-6128508, 6131925-6131932, 6131955-6131982, 6132003-6132033, 6140742, 6153569, 6166108-6166122, 6166151-6166155, 6166163-6166174, 6166187-6166238, 6184527-6184530 |
| 211 | TNFRSF1A | 12 | 0.98172514619883 | 25 | 1368 | 6438510, 6438596-6438598, 6438607-6438615, 6438637-6438643, 6438705-6438708, 6438716 |
| 212 | SCNN1A | 12 | 0.98628257887517 | 30 | 2187 | 6458557-6458558, 6458561-6458563, 6472625, 6472712-6472715, 6472751-6472753, 6472759-6472775 |
| 213 | TPI1 | 12 | 0.916 | 63 | 750 | 6976731-6976749, 6976767-6976810 |
| 214 | ATN1 | 12 | 0.98572628043661 | 51 | 3573 | 7045906-7045934, 7045955, 7046188-7046198, 7046525-7046533, 7047134 |
| 215 | PEX5 | 12 | 0.99947257383966 | 1 | 1896 | 7344183 |
| 216 | AICDA | 12 | 0.99832495812395 | 1 | 597 | 8756909 |
| 217 | CDKN1B | 12 | 0.99329983249581 | 4 | 597 | 12871083-12871084, 12871103-12871104 |
| 218 | ABCC9 | 12 | 0.99720430107527 | 13 | 4650 | 22065998, 22068660-22068671 |
| 219 | KRAS | 12 | 0.99298245614035 | 4 | 570 | 25380288-25380291 |
| 220 | PKP2 | 12 | 0.97812251392204 | 55 | 2514 | 32955436, 33031889, 33049548-33049566, 33049599-33049604, 33049638-33049665 |
| 221 | KIF21A | 12 | 0.99017248295227 | 49 | 4986 | 39688290, 39688301-39688302, 39760270, 39760273, 39836729-39836772 |
| 222 | LRRK2 | 12 | 0.99907700421941 | 7 | 7584 | 40619049-40619050, 40637403-40637405, 40692956-40692957 |
| 223 | IRAK4 | 12 | 0.99783080260304 | 3 | 1383 | 44180202-44180204 |
| 224 | VDR | 12 | 0.97274143302181 | 35 | 1284 | 48240443, 48240454-48240455, 48251342-48251373 |
| 225 | COL2A1 | 12 | 0.98588709677419 | 63 | 4464 | 48369243-48369261, 48376340, 48376367, 48377505-48377516, 48377894, 48398030, 48398073-48398100 |
| 226 | MLL2 | 12 | 0.91940532081377 | 1339 | 16614 | 49420433-49420440, 49420519-49420525, 49420597, 49420601-49420602, 49420937, 49420944-49420951, 49424110, 49424113, 49424125, 49424132-49424135, 49424174-49424178, 49424419-49424422, 49424435, 49424443, 49425438-49425444, 49425813, 49425942, 49425945, 49426052-49426053, 49426057-49426058, 49426156-49426162, 49426170-49426173, 49426209, 49426453-49426494, 49426575-49426599, 49426607-49426686, 49426694-49427305, 49427311-49427333, 49427352-49427361, 49427380-49427402, 49427422-49427435, 49427451-49427453, 49427463, 49427467-49427474, 49427478-49427479, 49427484-49427487, 49427493-49427535, 49427567-49427616, 49427639-49427699, 49431174-49431177, 49431277-49431283, 49431292-49431387, 49431397, 49431401-49431404, 49431543, 49431550, 49431553, 49431649-49431655, 49431691-49431736, 49431743, 49431751-49431756, 49431764-49431771, 49431830-49431843, 49431868-49431912, 49432241-49432244, 49434097-49434100, 49434113-49434115, 49434126-49434129, 49434188, 49434519-49434523, 49438269-49438272 |
| 227 | DHH | 12 | 0.91015952980688 | 107 | 1191 | 49483642, 49483710-49483722, 49483746-49483755, 49483762-49483770, 49483834-49483865, 49483886-49483911, 49483976-49483983, 49484163-49484164, 49484213-49484215, 49488193-49488195 |
| 228 | TUBA1A | 12 | 0.99780701754386 | 1 | 456 | 49522213 |
| 229 | ACVRL1 | 12 | 0.95833333333333 | 63 | 1512 | 52307093, 52307358-52307361, 52307382, 52307411-52307421, 52307428-52307435, 52307456-52307493 |
| 230 | KRT81 | 12 | 0.95125164690382 | 74 | 1518 | 52680240-52680241, 52680251, 52680267, 52681056, 52681080, 52684020-52684042, 52684959-52684960, 52685008, 52685059-52685079, 52685190-52685210 |
| 231 | KRT86 | 12 | 0.94592744695414 | 79 | 1461 | 52695749-52695780, 52695849-52695883, 52696925-52696934, 52699033, 52699044 |
| 232 | KRT83 | 12 | 0.98987854251012 | 15 | 1482 | 52708562-52708568, 52713117-52713120, 52714899, 52714920-52714921, 52714933 |
| 233 | KRT6B | 12 | 0.94867256637168 | 87 | 1695 | 52841034-52841040, 52841164-52841177, 52841355-52841357, 52842733-52842739, 52843578-52843584, 52845527-52845534, 52845598-52845604, 52845662-52845687, 52845797-52845804 |
| 234 | KRT6C | 12 | 0.90796460176991 | 156 | 1695 | 52863038-52863041, 52863210-52863227, 52863539-52863546, 52864381, 52865903-52865929, 52866041-52866043, 52866052, 52867061-52867108, 52867186-52867193, 52867257-52867263, 52867324, 52867339-52867342, 52867457-52867482 |
| 235 | KRT6A | 12 | 0.95162241887906 | 82 | 1695 | 52881581-52881582, 52881586-52881591, 52881599-52881608, 52881719-52881739, 52885502, 52886637-52886644, 52886708-52886714, 52886772-52886797, 52886912 |
| 236 | KRT5 | 12 | 0.90355329949239 | 171 | 1773 | 52908726-52908767, 52908797-52908802, 52908828-52908859, 52908871-52908909, 52908916-52908938, 52910518-52910544, 52912900, 52912931 |
| 237 | KRT2 | 12 | 0.9984375 | 3 | 1920 | 53045795-53045797 |
| 238 | KRT1 | 12 | 0.97622739018088 | 46 | 1935 | 53070148-53070168, 53072427-53072428, 53072495-53072517 |
| 239 | KRT4 | 12 | 0.99943977591036 | 1 | 1785 | 53207863 |
| 240 | AAAS | 12 | 0.97501523461304 | 41 | 1641 | 53701394-53701433, 53708600 |
| 241 | RDH5 | 12 | 0.99895506792059 | 1 | 957 | 56115203 |
| 242 | RPS26 | 12 | 0.98275862068966 | 6 | 348 | 56436369-56436374 |
| 243 | MYO1A | 12 | 0.99808429118774 | 6 | 3132 | 57430795-57430796, 57431805-57431808 |
| 244 | KIF5A | 12 | 0.99580509841884 | 13 | 3099 | 57944101-57944110, 57944181-57944183 |
| 245 | CYP27B1 | 12 | 0.98428290766208 | 24 | 1527 | 58159790-58159810, 58159967-58159969 |
| 246 | TSFM | 12 | 0.98261758691207 | 17 | 978 | 58176591-58176607 |
| 247 | GNS | 12 | 0.98432790837854 | 26 | 1659 | 65141670-65141672, 65141680-65141682, 65152942, 65152968-65152986 |
| 248 | LEMD3 | 12 | 0.94517543859649 | 150 | 2736 | 65563377-65563415, 65563421-65563435, 65563621-65563656, 65563754-65563759, 65563765-65563770, 65563776, 65563782-65563785, 65563853-65563859, 65563885-65563915, 65563951-65563954, 65564374 |
| 249 | LYZ | 12 | 0.98434004474273 | 7 | 447 | 69746987-69746993 |
| 250 | TPH2 | 12 | 0.9979633401222 | 3 | 1473 | 72416230-72416231, 72416235 |
| 251 | BBS10 | 12 | 0.9963167587477 | 8 | 2172 | 76742063-76742070 |
| 252 | CEP290 | 12 | 0.99018817204301 | 73 | 7440 | 88472960-88472985, 88472996-88472997, 88505490-88505511, 88505570-88505590, 88505595, 88532968 |
| 253 | HAL | 12 | 0.99797365754813 | 4 | 1974 | 96380936-96380939 |
| 254 | TMPO | 12 | 0.97314148681055 | 56 | 2085 | 98909784-98909786, 98909807-98909813, 98909820-98909829, 98909860-98909864, 98909885-98909910, 98921669, 98921680-98921683 |
| 255 | SLC17A8 | 12 | 0.99209039548023 | 14 | 1770 | 100774557-100774570 |
| 256 | GNPTAB | 12 | 0.99920445505171 | 3 | 3771 | 102153809-102153810, 102153908 |
| 257 | UNG | 12 | 0.99469214437367 | 5 | 942 | 109535542-109535544, 109536291, 109547728 |
| 258 | MMAB | 12 | 0.99867197875166 | 1 | 753 | 109998888 |
| 259 | TRPV4 | 12 | 0.9954128440367 | 12 | 2616 | 110221475-110221476, 110231768, 110232140, 110236630, 110236713-110236717, 110246221, 110252434 |
| 260 | ATP2A2 | 12 | 0.96548418024928 | 108 | 3129 | 110719605-110719712 |
| 261 | MYL2 | 12 | 0.96407185628743 | 18 | 501 | 111348917-111348922, 111348926, 111348933, 111348947-111348952, 111348960-111348963 |
| 262 | ATXN2 | 12 | 0.83257229832572 | 660 | 3942 | 111895110, 111895124-111895132, 112036588-112037226, 112037261-112037267, 112037307-112037309, 112037313 |
| 263 | PTPN11 | 12 | 0.99214365881033 | 14 | 1782 | 112856916-112856929 |
| 264 | TBX5 | 12 | 0.99678869621066 | 5 | 1557 | 114793786-114793789, 114793803 |
| 265 | TBX3 | 12 | 0.87679211469534 | 275 | 2232 | 115109876-115109887, 115110042-115110043, 115111970-115112002, 115112033-115112168, 115112185-115112246, 115112322-115112326, 115112359-115112363, 115112388-115112392, 115112398, 115112403-115112404, 115112435-115112438, 115112626-115112627, 115118766-115118769, 115120838-115120839 |
| 266 | ACADS | 12 | 0.98870056497175 | 14 | 1239 | 121163714-121163724, 121176658-121176660 |
| 267 | HNF1A | 12 | 0.95253164556962 | 90 | 1896 | 121416619-121416622, 121416626-121416631, 121434344-121434378, 121437304-121437308, 121437323, 121437379-121437403, 121437412-121437418, 121438899-121438905 |
| 268 | HPD | 12 | 0.98477157360406 | 18 | 1182 | 122292611-122292628 |
| 269 | EIF2B1 | 12 | 0.99673202614379 | 3 | 918 | 124116928-124116930 |
| 270 | ATP6V0A2 | 12 | 0.99066511085181 | 24 | 2571 | 124197119-124197142 |
| 271 | PUS1 | 12 | 0.86448598130841 | 174 | 1284 | 132414268-132414341, 132414452-132414495, 132414524-132414531, 132414539-132414542, 132414549, 132425965-132426003, 132426243-132426246 |
| 272 | SACS | 13 | 0.98879184861718 | 154 | 13740 | 23908982, 23911452-23911453, 23949258-23949408 |
| 273 | PDX1 | 13 | 0.78638497652582 | 182 | 852 | 28494413-28494446, 28494511, 28494543-28494556, 28494567-28494570, 28494576-28494616, 28494623-28494644, 28498640-28498651, 28498679-28498715, 28498757-28498759, 28498802-28498815 |
| 274 | B3GALTL | 13 | 0.95323981295925 | 70 | 1497 | 31774222-31774291 |
| 275 | BRCA2 | 13 | 0.99941503363557 | 6 | 10257 | 32912100-32912103, 32912247, 32913648 |
| 276 | SPG20 | 13 | 0.99800099950025 | 4 | 2001 | 36886529, 36905549-36905551 |
| 277 | FREM2 | 13 | 0.97581493165089 | 230 | 9510 | 39261571-39261579, 39261605-39261610, 39261628-39261658, 39261682-39261694, 39261753-39261762, 39261772-39261834, 39261854-39261860, 39261866-39261871, 39261893-39261941, 39261948-39261959, 39261995-39262002, 39262612-39262623, 39450279, 39450285-39450286, 39454896 |
| 278 | SLC25A15 | 13 | 0.97792494481236 | 20 | 906 | 41381492-41381511 |
| 279 | TNFSF11 | 13 | 0.97589098532495 | 23 | 954 | 43148445-43148455, 43148498-43148509 |
| 280 | SUCLA2 | 13 | 0.99497126436782 | 7 | 1392 | 48575338-48575344 |
| 281 | RB1 | 13 | 0.97129529960531 | 80 | 2787 | 48878093, 48878111-48878178, 48934222, 48954211-48954220 |
| 282 | RNASEH2B | 13 | 0.94249201277955 | 54 | 939 | 51484214-51484258, 51484268-51484276 |
| 283 | ATP7B | 13 | 0.99772623919964 | 10 | 4398 | 52509135-52509136, 52518293-52518298, 52542742-52542743 |
| 284 | CLN5 | 13 | 0.98366013071895 | 20 | 1224 | 77566101-77566105, 77566111-77566124, 77566170 |
| 285 | EDNRB | 13 | 0.98344620015049 | 22 | 1329 | 78474704-78474712, 78477674-78477678, 78492506-78492510, 78492520-78492522 |
| 286 | SLITRK1 | 13 | 0.99234815877571 | 16 | 2091 | 84453769-84453784 |
| 287 | GPC6 | 13 | 0.99580335731415 | 7 | 1668 | 93879815-93879821 |
| 288 | ZIC2 | 13 | 0.39462163852408 | 968 | 1599 | 100634319-100634714, 100634730-100634901, 100634907-100634926, 100634997-100635040, 100635061, 100635065-100635067, 100635196-100635215, 100635241-100635257, 100637255-100637258, 100637343-100637346, 100637577-100637597, 100637606-100637611, 100637643-100637679, 100637698-100637917, 100637934-100637936 |
| 289 | PCCA | 13 | 0.99862825788752 | 3 | 2187 | 100764247, 100925470, 100925474 |
| 290 | ERCC5 | 13 | 0.99433828733192 | 24 | 4239 | 103460006, 103460013-103460022, 103515363-103515366, 103515377-103515382, 103515391-103515393 |
| 291 | COL4A1 | 13 | 0.98662674650699 | 67 | 5010 | 110804781, 110804785, 110822949, 110835351-110835357, 110862372, 110959319-110959374 |
| 292 | F7 | 13 | 0.89288389513109 | 143 | 1335 | 113765004-113765057, 113765077-113765141, 113765155-113765161, 113772923, 113772963-113772969, 113773180-113773181, 113773185-113773188, 113773235-113773237 |
| 293 | F10 | 13 | 0.99659168370825 | 5 | 1467 | 113777184, 113798224, 113798229-113798230, 113798238 |
| 294 | GRK1 | 13 | 0.97695035460993 | 39 | 1692 | 114321804, 114321824, 114322152-114322155, 114325927-114325940, 114426047-114426065 |
| 295 | TEP1 | 14 | 0.98389142567225 | 127 | 7884 | 20841431-20841459, 20841544-20841558, 20846965-20846968, 20848529-20848530, 20850406-20850415, 20850441-20850489, 20850510, 20850815-20850821, 20850825, 20850837, 20850870, 20851744, 20852374, 20859148, 20859164-20859167 |
| 296 | RPGRIP1 | 14 | 0.998704998705 | 5 | 3861 | 21769208-21769210, 21785862-21785863 |
| 297 | SLC7A7 | 14 | 0.99153645833333 | 13 | 1536 | 23282117-23282129 |
| 298 | PABPN1 | 14 | 0.61889250814332 | 351 | 921 | 23790679-23791029 |
| 299 | MYH6 | 14 | 0.98986254295533 | 59 | 5820 | 23855146-23855154, 23855161-23855171, 23858254, 23863350-23863353, 23863358-23863374, 23863434-23863443, 23871911-23871917 |
| 300 | MYH7 | 14 | 0.98846418732782 | 67 | 5808 | 23883294-23883301, 23886744-23886749, 23886887, 23886890, 23887432, 23887437, 23887485, 23887524-23887539, 23887554-23887559, 23888426-23888433, 23889205, 23894209-23894212, 23894604-23894612, 23895992, 23895998, 23898526, 23898553 |
| 301 | NRL | 14 | 0.75770308123249 | 173 | 714 | 24550538-24550540, 24550552-24550560, 24550575-24550728, 24550767-24550773 |
| 302 | PCK2 | 14 | 0.99271970878835 | 14 | 1923 | 24568258, 24568265-24568271, 24572459-24572464 |
| 303 | TINF2 | 14 | 0.99852507374631 | 2 | 1356 | 24711179-24711180 |
| 304 | FOXG1 | 14 | 0.65170068027211 | 512 | 1470 | 29236486-29236964, 29237094-29237096, 29237153-29237162, 29237339-29237351, 29237653-29237658, 29237791 |
| 305 | COCH | 14 | 0.9903206291591 | 16 | 1653 | 31344270-31344284, 31355215 |
| 306 | CFL2 | 14 | 0.9940119760479 | 3 | 501 | 35183744-35183746 |
| 307 | NKX2-1 | 14 | 0.69568822553897 | 367 | 1206 | 36986493-36986497, 36986507-36986513, 36986575-36986630, 36986653-36986656, 36986693-36986900, 36986906-36986927, 36986946-36986953, 36987023-36987026, 36987102-36987108, 36987119, 36987124-36987130, 36987164, 36988255-36988259, 36988271-36988274, 36988304-36988307, 36988340-36988348, 36988354, 36988360, 36988367-36988379 |
| 308 | PAX9 | 14 | 0.97563352826511 | 25 | 1026 | 37132165-37132186, 37132468, 37145557-37145558 |
| 309 | FANCM | 14 | 0.99918659508703 | 5 | 6147 | 45605598, 45605686, 45623991, 45652986-45652987 |
| 310 | MGAT2 | 14 | 0.99181547619048 | 11 | 1344 | 50088123-50088133 |
| 311 | C14orf104 | 14 | 0.76770087509944 | 584 | 2514 | 50100619-50100644, 50100693-50100696, 50100701, 50100714-50100727, 50100751-50100757, 50100765-50100791, 50100798-50100883, 50100894-50100922, 50100962-50101010, 50101047-50101053, 50101065-50101145, 50101151-50101174, 50101226-50101273, 50101361-50101404, 50101412-50101458, 50101522-50101528, 50101540-50101572, 50101637-50101685, 50101841 |
| 312 | L2HGDH | 14 | 0.99784482758621 | 3 | 1392 | 50778761-50778762, 50778767 |
| 313 | ATL1 | 14 | 0.99879663056558 | 2 | 1662 | 51094782-51094783 |
| 314 | PYGL | 14 | 0.9685534591195 | 80 | 2544 | 51410911-51410913, 51410951-51410955, 51410957-51410963, 51410970, 51410977-51410990, 51411072-51411121 |
| 315 | GCH1 | 14 | 0.79814077025232 | 152 | 753 | 55312499-55312508, 55312516-55312517, 55369115-55369123, 55369131-55369133, 55369153, 55369236-55369292, 55369312-55369381 |
| 316 | OTX2 | 14 | 0.99888143176734 | 1 | 894 | 57272104 |
| 317 | SIX6 | 14 | 0.96761133603239 | 24 | 741 | 60976230-60976234, 60976370-60976379, 60976680-60976688 |
| 318 | SIX1 | 14 | 0.96374269005848 | 31 | 855 | 61115429-61115444, 61115449-61115458, 61115748, 61115858-61115860, 61115863 |
| 319 | SYNE2 | 14 | 0.99806987068134 | 40 | 20724 | 64447764-64447777, 64518572-64518576, 64580280-64580284, 64608703, 64669615, 64669619, 64676762, 64676767, 64676780, 64676821-64676827, 64691723-64691724, 64692121 |
| 320 | RDH12 | 14 | 0.99158780231335 | 8 | 951 | 68193730-68193736, 68193799 |
| 321 | ZFYVE26 | 14 | 0.98779527559055 | 93 | 7620 | 68215177-68215183, 68215349-68215356, 68241769, 68242715, 68251812-68251817, 68251821-68251825, 68251831, 68274122-68274125, 68274136-68274145, 68274164-68274167, 68274187, 68274218-68274246, 68274269-68274270, 68274370, 68274375-68274378, 68274385-68274393 |
| 322 | PSEN1 | 14 | 0.99501424501425 | 7 | 1404 | 73678565-73678571 |
| 323 | VSX2 | 14 | 0.96869244935543 | 34 | 1086 | 74706412-74706437, 74706469-74706474, 74706604, 74706608 |
| 324 | EIF2B2 | 14 | 0.98484848484848 | 16 | 1056 | 75471572-75471575, 75471592-75471603 |
| 325 | MLH3 | 14 | 0.98899587345254 | 48 | 4362 | 75483807-75483854 |
| 326 | FLVCR2 | 14 | 0.97216951296648 | 44 | 1581 | 76045373-76045390, 76045497-76045519, 76105755-76105757 |
| 327 | ESRRB | 14 | 0.92861820563196 | 109 | 1527 | 76957883-76957891, 76964667-76964750, 76964760-76964768, 76964786-76964792 |
| 328 | POMT2 | 14 | 0.96404793608522 | 81 | 2253 | 77744785, 77786851-77786871, 77786884, 77786887, 77786895-77786904, 77786910-77786915, 77786939-77786951, 77786959-77786986 |
| 329 | GALC | 14 | 0.93537414965986 | 133 | 2058 | 88434762-88434767, 88459314-88459342, 88459385-88459421, 88459428-88459437, 88459450-88459500 |
| 330 | SPATA7 | 14 | 0.99722222222222 | 5 | 1800 | 88904188, 88904244-88904247 |
| 331 | ATXN3 | 14 | 0.99355432780847 | 7 | 1086 | 92537351-92537354, 92537366-92537368 |
| 332 | AMN | 14 | 0.68061674008811 | 435 | 1362 | 103395109-103395113, 103395502-103395541, 103395555-103395564, 103395591-103395595, 103395765-103395766, 103395803, 103395815-103395823, 103395832, 103396070-103396072, 103396275, 103396317-103396350, 103396357-103396410, 103396502-103396664, 103396743-103396783, 103396801-103396812, 103396819-103396827, 103396913-103396919, 103396934-103396959, 103397006-103397017 |
| 333 | INF2 | 14 | 0.8264 | 651 | 3750 | 105167803-105167816, 105167856-105167864, 105167920-105167931, 105168003-105168052, 105170263-105170266, 105172381-105172418, 105173382, 105173661-105173663, 105173671-105173692, 105173708-105173710, 105173748-105173792, 105173799, 105173856-105174203, 105174246-105174290, 105174320-105174339, 105174797-105174802, 105174809-105174821, 105178018-105178024, 105179907, 105179911, 105180992-105180999 |
| 334 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 335 | SNRPN | 15 | 0.95712309820194 | 31 | 723 | 25222088, 25222098-25222127 |
| 336 | UBE3A | 15 | 0.99847792998478 | 4 | 2628 | 25616757, 25620773-25620775 |
| 337 | OCA2 | 15 | 0.98649185538339 | 34 | 2517 | 28263543-28263567, 28263655-28263656, 28263661, 28263669-28263670, 28326984-28326987 |
| 338 | IVD | 15 | 0.99141295862607 | 11 | 1281 | 40698070, 40698078-40698083, 40698125-40698128 |
| 339 | CHST14 | 15 | 0.81432360742706 | 210 | 1131 | 40763413-40763546, 40763564-40763565, 40763567-40763592, 40763629-40763638, 40763749-40763752, 40763783-40763816 |
| 340 | CAPN3 | 15 | 0.99877450980392 | 3 | 2448 | 42652076-42652077, 42702163 |
| 341 | CDAN1 | 15 | 0.87812160694897 | 449 | 3684 | 43018341, 43018591, 43019922-43019949, 43023987, 43026169-43026172, 43026176-43026177, 43026195-43026202, 43026497-43026524, 43028515, 43028669-43028673, 43028686-43028693, 43028707-43028978, 43029211-43029300 |
| 342 | TTBK2 | 15 | 0.99919678714859 | 3 | 3735 | 43067378, 43164879-43164880 |
| 343 | STRC | 15 | 0.9634009009009 | 195 | 5328 | 43892489, 43892844-43892850, 43896228-43896238, 43896303-43896312, 43897496-43897505, 43900150-43900157, 43902600-43902614, 43902620, 43905024, 43905030, 43905035-43905044, 43905073-43905078, 43906228-43906230, 43907745-43907751, 43908052-43908054, 43908065-43908097, 43908120, 43908542, 43910136-43910139, 43910183-43910205, 43910260-43910269, 43910275-43910278, 43910440, 43910872-43910895 |
| 344 | STRC | 15 | 0.93641025641026 | 124 | 1950 | 44007207-44007213, 44007514-44007516, 44007527-44007559, 44007582, 44008004, 44009589-44009646, 44009657, 44009662-44009667, 44009722-44009731, 44009737-44009740 |
| 345 | SPG11 | 15 | 0.99972722313148 | 2 | 7332 | 44889100, 44914536 |
| 346 | DUOX2 | 15 | 0.97460727350979 | 118 | 4647 | 45392415, 45392421-45392425, 45397971-45397972, 45397975-45397976, 45398403, 45398408-45398409, 45398412, 45398474-45398478, 45398486-45398493, 45398506, 45399069-45399078, 45401055-45401057, 45403383-45403390, 45403613-45403639, 45403671, 45403674, 45403713, 45403736-45403772, 45404042, 45404057 |
| 347 | GATM | 15 | 0.96383647798742 | 46 | 1272 | 45670597-45670642 |
| 348 | FBN1 | 15 | 0.99721448467967 | 24 | 8616 | 48717989, 48737575-48737577, 48782179-48782197, 48936949 |
| 349 | CEP152 | 15 | 0.99174219536757 | 41 | 4965 | 49030716, 49036438-49036454, 49036501-49036504, 49059565-49059567, 49059574-49059585, 49059591, 49061220, 49076177, 49090210 |
| 350 | RAB27A | 15 | 0.99399399399399 | 4 | 666 | 55516141-55516144 |
| 351 | TPM1 | 15 | 0.98947368421053 | 9 | 855 | 63335029-63335032, 63335107-63335109, 63351851-63351852 |
| 352 | PPIB | 15 | 0.95391705069124 | 30 | 651 | 64455107, 64455113-64455117, 64455153-64455176 |
| 353 | CLN6 | 15 | 0.90705128205128 | 87 | 936 | 68500478-68500481, 68521840-68521922 |
| 354 | NR2E3 | 15 | 0.92391304347826 | 84 | 1104 | 72103157-72103158, 72103847, 72103853, 72103907-72103919, 72103924-72103933, 72104141, 72104146-72104148, 72104160-72104185, 72105811-72105814, 72105843-72105865 |
| 355 | HEXA | 15 | 0.98805031446541 | 19 | 1590 | 72668072-72668083, 72668134, 72668271-72668275, 72668285 |
| 356 | BBS4 | 15 | 0.99935897435897 | 1 | 1560 | 73023670 |
| 357 | HCN4 | 15 | 0.72397563676633 | 997 | 3612 | 73614824-73614851, 73614859-73614883, 73614914-73614916, 73614927-73614928, 73615019-73615066, 73615106, 73615116-73615121, 73615201-73615231, 73615405-73615449, 73615509-73615515, 73615579-73615591, 73615736-73615743, 73615918-73615920, 73615932, 73615942-73615957, 73615967-73616042, 73616051-73616062, 73616067-73616079, 73616151-73616158, 73616165-73616172, 73616174-73616175, 73616435-73616444, 73616491-73616513, 73616554-73616577, 73616583-73616587, 73624524-73624545, 73659980, 73659984, 73660057-73660611 |
| 358 | PSTPIP1 | 15 | 0.99760191846523 | 3 | 1251 | 77320943-77320945 |
| 359 | RPS17 | 15 | 0.98039215686275 | 8 | 408 | 82823386-82823393 |
| 360 | RPS17 | 15 | 0.98039215686275 | 8 | 408 | 83207729-83207736 |
| 361 | FANCI | 15 | 0.99749184850765 | 10 | 3987 | 89801945, 89836189, 89836193-89836196, 89836204-89836207 |
| 362 | POLG | 15 | 0.97338709677419 | 99 | 3720 | 89868692, 89871713-89871715, 89876673-89876681, 89876803-89876865, 89876919-89876938, 89876952-89876954 |
| 363 | MESP2 | 15 | 0.85427135678392 | 174 | 1194 | 90319846-90319847, 90319926-90319975, 90319993-90320060, 90320078-90320112, 90320137-90320148, 90320170-90320176 |
| 364 | IGF1R | 15 | 0.9766081871345 | 96 | 4104 | 99192811-99192896, 99250820-99250823, 99251235-99251238, 99251281-99251282 |
| 365 | HBZ | 16 | 0.39393939393939 | 260 | 429 | 203891-204095, 204271-204319, 204382-204387 |
| 366 | HBM | 16 | 0.68544600938967 | 134 | 426 | 216030-216035, 216049-216053, 216069-216070, 216267-216291, 216302-216308, 216327-216360, 216398-216431, 216451-216471 |
| 367 | HBA2 | 16 | 0.82284382284382 | 76 | 429 | 222929-222975, 223178-223185, 223215-223228, 223233-223236, 223531-223533 |
| 368 | GNPTG | 16 | 0.93464052287582 | 60 | 918 | 1401967-1402014, 1402278-1402281, 1402295-1402300, 1402305-1402306 |
| 369 | CLCN7 | 16 | 0.91687344913151 | 201 | 2418 | 1497544-1497558, 1497714-1497715, 1500503-1500542, 1502803-1502804, 1502832, 1524835-1524975 |
| 370 | IGFALS | 16 | 0.82091097308489 | 346 | 1932 | 1840643-1840652, 1840742-1840748, 1840760-1840769, 1840837-1840861, 1840887-1840908, 1840948-1840977, 1841019-1841023, 1841106-1841131, 1841256-1841305, 1841325-1841367, 1841398-1841441, 1841505-1841512, 1841523, 1841533-1841537, 1841541, 1841773-1841774, 1841817, 1841823-1841836, 1842062, 1842066-1842070, 1842284-1842318, 1842359 |
| 371 | GFER | 16 | 0.59385113268608 | 251 | 618 | 2034220-2034452, 2034460-2034469, 2034748-2034752, 2034803-2034805 |
| 372 | TSC2 | 16 | 0.95353982300885 | 252 | 5424 | 2103345-2103348, 2103359-2103365, 2103370-2103377, 2103384-2103436, 2108766-2108770, 2121863-2121897, 2124201-2124219, 2124254-2124259, 2124334-2124377, 2126130-2126134, 2130190, 2133796-2133817, 2136206-2136216, 2136227-2136233, 2136280-2136288, 2136292, 2136298-2136301, 2136305-2136307, 2136322-2136329 |
| 373 | PKD1 | 16 | 0.81606257744734 | 2375 | 12912 | 2139736-2139739, 2139763, 2139796-2139824, 2139876-2139900, 2140524-2140526, 2140675-2140695, 2140776-2140777, 2140784-2140795, 2140885-2140894, 2140902-2140910, 2140933-2141027, 2141043-2141175, 2141424-2141494, 2141502-2141508, 2141782-2141784, 2141802-2141809, 2141815-2141816, 2142065, 2142980, 2142985, 2142991, 2143003-2143010, 2147189-2147207, 2149750-2149753, 2150050, 2150397, 2150470-2150484, 2152392-2152398, 2152567-2152573, 2153289-2153326, 2153374, 2153429-2153436, 2153618-2153636, 2153651-2153706, 2153716-2153750, 2153762-2153792, 2153809-2153826, 2154570-2154611, 2154635-2154643, 2155336-2155355, 2155361-2155383, 2155462, 2155889-2155930, 2155945, 2156152, 2156156-2156158, 2156241-2156287, 2156494-2156526, 2156578, 2156653-2156678, 2156847-2156853, 2156934-2156949, 2157929, 2158299-2158305, 2158350-2158356, 2158565-2158570, 2158637-2158640, 2158653-2158654, 2158691-2158738, 2158838-2158840, 2158989, 2159075-2159099, 2159144-2159186, 2159224-2159233, 2159240-2159280, 2159410-2159429, 2159452-2159490, 2159613-2159619, 2159628-2159669, 2159694-2159718, 2159732-2159737, 2160113-2160140, 2160570, 2160646-2160685, 2160706-2160732, 2161472-2161474, 2161763-2161776, 2162955-2162964, 2164222-2164228, 2164444-2164470, 2164480, 2164486-2164488, 2164525-2164531, 2164713-2164714, 2164734-2164736, 2164805-2164811, 2164914, 2165542-2165544, 2165625, 2166530-2166545, 2166849-2166854, 2166858, 2166871, 2166876, 2166948-2166951, 2166955, 2166975-2167003, 2167026-2167034, 2167044, 2167047, 2167552-2167593, 2167624-2167630, 2167668-2167673, 2167794-2167842, 2167849-2167897, 2167918-2168048, 2168055-2168086, 2168124-2168245, 2168284-2168287, 2168305-2168439, 2168749-2168760, 2185476-2185690 |
| 374 | ABCA3 | 16 | 0.97751710654936 | 115 | 5115 | 2334330-2334374, 2334936, 2334962-2334967, 2334976-2334983, 2334993-2334994, 2334998-2334999, 2338027-2338069, 2338087-2338093, 2345652 |
| 375 | MEFV | 16 | 0.9769820971867 | 54 | 2346 | 3304654-3304657, 3304692, 3304696-3304698, 3304731-3304736, 3306345-3306370, 3306414, 3306419-3306421, 3306425, 3306431-3306436, 3306440, 3306451-3306452 |
| 376 | SLX4 | 16 | 0.9874659400545 | 69 | 5505 | 3632401-3632414, 3632428, 3632439, 3632488-3632493, 3632589-3632596, 3632601-3632604, 3639240-3639255, 3639272, 3639276-3639281, 3639544, 3639783-3639787, 3639941-3639943, 3647835-3647837 |
| 377 | CREBBP | 16 | 0.88756992768454 | 824 | 7329 | 3777758-3777800, 3777840-3777847, 3777858-3777901, 3778105-3778151, 3778177-3778213, 3778238-3778239, 3778282-3778313, 3778328-3778355, 3778361-3778385, 3778391-3778473, 3778567-3778570, 3778583, 3778598-3778602, 3778629-3778647, 3778703-3778709, 3778766-3778772, 3778788-3778838, 3778844-3778858, 3778868-3778898, 3778933-3778975, 3779008-3779010, 3779042-3779088, 3779104-3779153, 3779168-3779215, 3779244-3779272, 3779296, 3779336-3779337, 3779342, 3779403-3779412, 3779421, 3779472-3779492, 3842071, 3843497, 3900804, 3900807, 3929842-3929916 |
| 378 | GLIS2 | 16 | 0.98666666666667 | 21 | 1575 | 4386794-4386799, 4387104, 4387162-4387165, 4387196-4387198, 4387368-4387374 |
| 379 | ALG1 | 16 | 0.89677419354839 | 144 | 1395 | 5121882-5121883, 5125527-5125533, 5127920-5127938, 5128799, 5128807, 5128828-5128839, 5128848, 5128856-5128865, 5130958-5130999, 5131020-5131047, 5133723-5133729, 5134815-5134821, 5134876-5134882 |
| 380 | PMM2 | 16 | 0.97975708502024 | 15 | 741 | 8891791-8891805 |
| 381 | MYH11 | 16 | 0.99360269360269 | 38 | 5940 | 15811128-15811131, 15811185-15811186, 15818218-15818229, 15829308-15829309, 15829335, 15829338-15829339, 15829343, 15829347-15829348, 15829352-15829363 |
| 382 | ABCC6 | 16 | 0.99335106382979 | 30 | 4512 | 16251649, 16263552-16263554, 16276714-16276717, 16276750-16276753, 16317274-16317291 |
| 383 | UMOD | 16 | 0.97191887675507 | 54 | 1923 | 20359771, 20359869, 20359880-20359889, 20360009-20360012, 20360090-20360094, 20360115-20360125, 20360137-20360142, 20360147, 20360151-20360158, 20360325-20360331 |
| 384 | OTOA | 16 | 0.99327485380117 | 23 | 3420 | 21696644-21696647, 21716587-21716590, 21716610-21716613, 21747697, 21752097-21752099, 21756211-21756217 |
| 385 | OTOA | 16 | 0.98995983935743 | 10 | 996 | 22568219-22568221, 22572334-22572340 |
| 386 | SCNN1B | 16 | 0.99791991679667 | 4 | 1923 | 23360185, 23360199-23360200, 23391896 |
| 387 | COG7 | 16 | 0.98616515348033 | 32 | 2313 | 23403701-23403702, 23415110, 23436092-23436108, 23436117-23436123, 23436129-23436133 |
| 388 | CLN3 | 16 | 0.99772209567198 | 3 | 1317 | 28493441-28493442, 28499039 |
| 389 | TUFM | 16 | 0.92982456140351 | 96 | 1368 | 28857351-28857373, 28857384-28857421, 28857551-28857578, 28857584-28857590 |
| 390 | ATP2A1 | 16 | 0.97172322022621 | 85 | 3006 | 28911902, 28911945-28911986, 28912100-28912139, 28914231-28914232 |
| 391 | PHKG2 | 16 | 0.92219492219492 | 95 | 1221 | 30760142-30760236 |
| 392 | FUS | 16 | 0.97912713472486 | 33 | 1581 | 31195221, 31195283-31195301, 31195310-31195319, 31195530, 31196401-31196402 |
| 393 | SLC5A2 | 16 | 0.93759286775632 | 126 | 2019 | 31499739-31499741, 31499943-31499944, 31499963-31499967, 31499978-31499979, 31500046-31500090, 31500233, 31500246-31500268, 31500304-31500348 |
| 394 | PHKB | 16 | 0.99542961608775 | 15 | 3282 | 47533764-47533770, 47695649-47695654, 47695661, 47723026 |
| 395 | NOD2 | 16 | 0.95645212936279 | 136 | 3123 | 50733432-50733437, 50733451-50733452, 50733504-50733515, 50733535-50733567, 50744829-50744830, 50744994-50744997, 50745035, 50745039-50745042, 50745052-50745057, 50745100-50745106, 50745116-50745117, 50745465-50745485, 50745518-50745538, 50745848-50745850, 50745862-50745865, 50745886-50745893 |
| 396 | CYLD | 16 | 0.98218029350105 | 51 | 2862 | 50785678-50785680, 50825472-50825480, 50825485-50825486, 50826561-50826597 |
| 397 | SALL1 | 16 | 0.97610062893082 | 95 | 3975 | 51175235, 51175353-51175354, 51175404-51175418, 51175481-51175492, 51175639-51175695, 51185092-51185099 |
| 398 | RPGRIP1L | 16 | 0.99974670719352 | 1 | 3948 | 53653023 |
| 399 | MMP2 | 16 | 0.95915279878971 | 81 | 1983 | 55513401-55513448, 55513456-55513488 |
| 400 | BBS2 | 16 | 0.99676823638042 | 7 | 2166 | 56553679-56553685 |
| 401 | SLC12A3 | 16 | 0.97930811509861 | 64 | 3093 | 56899215-56899223, 56899287-56899293, 56911989-56911992, 56921837-56921869, 56921891-56921896, 56921901-56921902, 56921906-56921908 |
| 402 | COQ9 | 16 | 0.99477533960293 | 5 | 957 | 57481418-57481421, 57485026 |
| 403 | GPR56 | 16 | 0.99854651162791 | 3 | 2064 | 57689339-57689341 |
| 404 | CNGB1 | 16 | 0.99707135250266 | 11 | 3756 | 57918202, 57918205, 57957177-57957185 |
| 405 | TK2 | 16 | 0.97294372294372 | 25 | 924 | 66583841-66583864, 66583895 |
| 406 | HSD11B2 | 16 | 0.6871921182266 | 381 | 1218 | 67465152-67465338, 67465372-67465373, 67465383, 67465390, 67465402, 67469531, 67469588-67469591, 67469707-67469710, 67469742-67469743, 67469964-67470045, 67470152-67470184, 67470219-67470254, 67470568-67470572, 67470756-67470763, 67470815-67470818, 67470881, 67470886-67470890, 67470894-67470897 |
| 407 | LCAT | 16 | 0.95162509448224 | 64 | 1323 | 67973978-67973981, 67976436, 67976442-67976443, 67976483, 67976578-67976583, 67976647, 67976776, 67976847-67976859, 67976867-67976871, 67976967, 67976991-67977009, 67977015-67977021, 67977964, 67977968, 67977973 |
| 408 | CDH3 | 16 | 0.97991967871486 | 50 | 2490 | 68679553-68679588, 68679614-68679625, 68719169-68719170 |
| 409 | CDH1 | 16 | 0.98603246508116 | 37 | 2649 | 68771330-68771366 |
| 410 | CIRH1A | 16 | 0.99951479864144 | 1 | 2061 | 69184541 |
| 411 | COG8 | 16 | 0.88961392060903 | 203 | 1839 | 69364779-69364780, 69364797, 69364825-69364826, 69366733-69366742, 69366751-69366752, 69366756, 69368488-69368492, 69368499-69368504, 69368511-69368513, 69368739-69368771, 69368790-69368800, 69368811-69368818, 69373082-69373092, 69373098, 69373123-69373139, 69373185-69373187, 69373194-69373244, 69373251-69373268, 69373319-69373336 |
| 412 | AARS | 16 | 0.99862401100791 | 4 | 2907 | 70292019-70292021, 70296338 |
| 413 | HP | 16 | 0.93202293202293 | 83 | 1221 | 72092153-72092159, 72092165-72092210, 72092221-72092239, 72093026-72093036 |
| 414 | GCSH | 16 | 0.772030651341 | 119 | 522 | 81129760-81129805, 81129811-81129883 |
| 415 | GAN | 16 | 0.8907469342252 | 196 | 1794 | 81348719-81348885, 81388144-81388160, 81388209-81388218, 81391493-81391494 |
| 416 | MLYCD | 16 | 0.68016194331984 | 474 | 1482 | 83932750-83933146, 83933159-83933176, 83933186-83933221, 83933265-83933277, 83948590-83948594, 83948605-83948609 |
| 417 | LRRC50 | 16 | 0.9931129476584 | 15 | 2178 | 84179086-84179088, 84179135-84179142, 84179150, 84179162-84179163, 84182718 |
| 418 | FOXF1 | 16 | 0.74736842105263 | 288 | 1140 | 86544176-86544261, 86544295-86544312, 86544483, 86544518-86544538, 86544583-86544617, 86544656-86544666, 86544670, 86544700-86544709, 86544854-86544880, 86544903, 86544931-86544961, 86544968-86545005, 86545119-86545126 |
| 419 | FOXC2 | 16 | 0.57503320053121 | 640 | 1506 | 86601343-86601351, 86601430-86601435, 86601440-86601449, 86601504-86601519, 86601555-86601556, 86601593-86601601, 86601644-86601679, 86601690-86602203, 86602257, 86602263-86602272, 86602370-86602377, 86602384-86602390, 86602400-86602404, 86602441-86602447 |
| 420 | JPH3 | 16 | 0.83622607921673 | 368 | 2247 | 87636868-87636870, 87636878-87636899, 87636962-87636964, 87678283-87678306, 87723252-87723294, 87723300-87723345, 87723357-87723362, 87723428-87723490, 87723507-87723575, 87723603, 87723606, 87723612-87723617, 87723697-87723710, 87723718-87723720, 87723725-87723729, 87723740-87723767, 87723774-87723777, 87723889-87723905, 87723915, 87723963-87723968, 87723976-87723978 |
| 421 | CYBA | 16 | 0.73469387755102 | 156 | 588 | 88709761-88709786, 88709796-88709832, 88709862-88709898, 88709924, 88709927, 88709948-88709975, 88712582-88712605, 88717382-88717383 |
| 422 | APRT | 16 | 0.9097605893186 | 49 | 543 | 88876478-88876503, 88876525-88876539, 88876548-88876552, 88877975-88877976, 88878288 |
| 423 | GALNS | 16 | 0.90885914595284 | 143 | 1569 | 88884455-88884475, 88893185-88893186, 88923166-88923285 |
| 424 | SPG7 | 16 | 0.92546063651591 | 178 | 2388 | 89574826-89575003 |
| 425 | FANCA | 16 | 0.96680402930403 | 145 | 4368 | 89805032-89805057, 89805097-89805105, 89815114-89815115, 89836982-89836988, 89837028-89837036, 89838101, 89842196-89842214, 89851366, 89882945-89883014, 89883023 |
| 426 | TUBB3 | 16 | 0.85809312638581 | 192 | 1353 | 89989810-89989866, 90001695-90001718, 90001799-90001824, 90001851-90001855, 90001875-90001899, 90001908-90001911, 90001964-90001973, 90001984-90001986, 90002065-90002083, 90002134-90002142, 90002185, 90002193-90002201 |
| 427 | PRPF8 | 17 | 0.99957191780822 | 3 | 7008 | 1561572-1561573, 1576786 |
| 428 | CTNS | 17 | 0.95511221945137 | 54 | 1203 | 3552149, 3559863-3559868, 3559876-3559880, 3559978, 3560036-3560074, 3560088-3560089 |
| 429 | CHRNE | 17 | 0.99527665317139 | 7 | 1482 | 4802611, 4804088, 4804426-4804430 |
| 430 | GP1BA | 17 | 0.95364583333333 | 89 | 1920 | 4835919-4835933, 4837212-4837213, 4837476-4837518, 4837524-4837551, 4837779 |
| 431 | AIPL1 | 17 | 0.98614718614719 | 16 | 1155 | 6329945, 6330064-6330076, 6331803-6331804 |
| 432 | PITPNM3 | 17 | 0.89811965811966 | 298 | 2925 | 6358663-6358664, 6358668-6358676, 6358698-6358770, 6358780-6358797, 6358809-6358835, 6358842-6358856, 6358869-6358896, 6358905-6358963, 6373586, 6374482-6374517, 6374617, 6381301-6381307, 6459705-6459726 |
| 433 | ACADVL | 17 | 0.98424796747967 | 31 | 1968 | 7123304-7123305, 7123310-7123319, 7123344, 7123498-7123500, 7123504, 7126043, 7126514-7126517, 7126553, 7127808, 7127978-7127984 |
| 434 | CHRNB1 | 17 | 0.99601593625498 | 6 | 1506 | 7348502, 7348727-7348728, 7357675-7357677 |
| 435 | MPDU1 | 17 | 0.9247311827957 | 56 | 744 | 7490278-7490319, 7490335, 7490490-7490494, 7490523-7490525, 7490533, 7490537-7490539, 7490548 |
| 436 | GUCY2D | 17 | 0.87288647342995 | 421 | 3312 | 7906366-7906394, 7906407-7906441, 7906465-7906503, 7906516-7906547, 7906560-7906766, 7906772-7906781, 7906834-7906850, 7906859, 7906955-7906956, 7906985-7906989, 7906998-7907004, 7907170-7907189, 7907320-7907322, 7907338-7907340, 7915539-7915542, 7915806-7915808, 7919811-7919814 |
| 437 | ALOX12B | 17 | 0.99952516619183 | 1 | 2106 | 7976205 |
| 438 | ALOXE3 | 17 | 0.95411985018727 | 98 | 2136 | 8012648, 8013235-8013242, 8013254-8013260, 8013410-8013411, 8013703-8013778, 8013802-8013805 |
| 439 | HES7 | 17 | 0.59439528023599 | 275 | 678 | 8024889-8025029, 8025040-8025088, 8025170-8025171, 8025247-8025251, 8025255, 8025260-8025263, 8025300-8025340, 8025661-8025682, 8025700-8025703, 8025726-8025730, 8025741 |
| 440 | MYH8 | 17 | 0.98400412796698 | 93 | 5814 | 10297694, 10301917-10301957, 10302111-10302145, 10302153, 10302200-10302203, 10303807-10303812, 10303819, 10315753-10315756 |
| 441 | MYH2 | 17 | 0.9996567112942 | 2 | 5826 | 10427931, 10450844 |
| 442 | MYH3 | 17 | 0.99295895586467 | 41 | 5823 | 10532918, 10534932-10534957, 10541668, 10555833-10555845 |
| 443 | ELAC2 | 17 | 0.97057638049174 | 73 | 2481 | 12896186-12896187, 12898309, 12898314, 12899065-12899072, 12899115, 12899974-12900002, 12903478-12903481, 12903485, 12906819-12906823, 12921103-12921123 |
| 444 | PMP22 | 17 | 0.88198757763975 | 57 | 483 | 15163968-15163986, 15164003-15164040 |
| 445 | TNFRSF13B | 17 | 0.99773242630385 | 2 | 882 | 16843755, 16855878 |
| 446 | FLCN | 17 | 0.99022988505747 | 17 | 1740 | 17117057-17117062, 17117069-17117079 |
| 447 | RAI1 | 17 | 0.88848103478413 | 638 | 5721 | 17696361-17696409, 17696424-17696430, 17696443-17696486, 17696497-17696539, 17696615-17696640, 17696718-17696722, 17696755-17696774, 17696780-17696813, 17696940-17696966, 17697090-17697149, 17697204-17697207, 17697210, 17697217-17697244, 17697308-17697316, 17697513-17697527, 17697591-17697641, 17697712-17697716, 17697795-17697805, 17698057-17698105, 17698167, 17698484-17698498, 17698787-17698804, 17698810-17698859, 17698966, 17699285, 17699618-17699621, 17699626-17699629, 17699740-17699744, 17699749, 17700000-17700005, 17700807-17700815, 17701203-17701206, 17701210, 17701549-17701571, 17701597-17701600, 17701715-17701717 |
| 448 | ATPAF2 | 17 | 0.99770114942529 | 2 | 870 | 17924495, 17924502 |
| 449 | MYO15A | 17 | 0.90852449730954 | 969 | 10593 | 18022482, 18023748-18023751, 18023890-18023894, 18023899-18023901, 18023906-18023914, 18023918-18023919, 18023980-18023998, 18024024-18024061, 18024078-18024531, 18024547-18024640, 18024663, 18024666, 18024672-18024686, 18024729-18024759, 18024773-18024871, 18025038, 18025068-18025114, 18025184, 18039996-18040000, 18043870, 18045413-18045418, 18045545-18045549, 18051437-18051442, 18052620, 18052819-18052828, 18054824-18054833, 18057099-18057100, 18057105-18057112, 18057121-18057127, 18057131-18057132, 18057184, 18057189-18057202, 18058629, 18058736, 18061092-18061099, 18061138-18061151, 18061157-18061171, 18065899-18065902, 18070953-18070974, 18074964 |
| 450 | UNC119 | 17 | 0.71092669432918 | 209 | 723 | 26879356-26879547, 26879553-26879562, 26879569-26879575 |
| 451 | SLC6A4 | 17 | 0.9973586899102 | 5 | 1893 | 28543213-28543215, 28548923-28548924 |
| 452 | NF1 | 17 | 0.99577464788732 | 36 | 8520 | 29422328-29422336, 29422363-29422371, 29422377-29422387, 29654543-29654549 |
| 453 | PEX12 | 17 | 0.98703703703704 | 14 | 1080 | 33904934-33904938, 33904949-33904957 |
| 454 | HNF1B | 17 | 0.98148148148148 | 31 | 1674 | 36104824-36104847, 36104853-36104856, 36104873-36104875 |
| 455 | TCAP | 17 | 0.98412698412698 | 8 | 504 | 37822055-37822058, 37822157-37822160 |
| 456 | KRT10 | 17 | 0.84045584045584 | 280 | 1755 | 38975101, 38975115-38975149, 38975160-38975342, 38975348-38975361, 38975367-38975410, 38978787-38978789 |
| 457 | KRT9 | 17 | 0.99946581196581 | 1 | 1872 | 39728148 |
| 458 | KRT14 | 17 | 0.97181113460183 | 40 | 1419 | 39739555-39739556, 39739570-39739574, 39739578-39739586, 39739597-39739600, 39740515-39740531, 39741307, 39742619, 39742856 |
| 459 | KRT16 | 17 | 0.96272855133615 | 53 | 1422 | 39766265-39766281, 39766692-39766698, 39768490-39768496, 39768740-39768746, 39768812, 39768854, 39768887, 39768899-39768903, 39768932-39768938 |
| 460 | KRT17 | 17 | 0.93764434180139 | 81 | 1299 | 39776960-39776982, 39777008-39777010, 39777080-39777093, 39780417, 39780516-39780540, 39780559, 39780564, 39780567, 39780573-39780584 |
| 461 | JUP | 17 | 0.99597855227882 | 9 | 2238 | 39914991-39914992, 39925751-39925757 |
| 462 | FKBP10 | 17 | 0.99599771297885 | 7 | 1749 | 39974408, 39974488, 39974491, 39974497-39974500 |
| 463 | STAT5B | 17 | 0.96869712351946 | 74 | 2364 | 40364136-40364137, 40370266-40370276, 40370287, 40371342-40371349, 40371434-40371463, 40371472-40371474, 40371740-40371751, 40371793-40371799 |
| 464 | STAT3 | 17 | 0.99437959360138 | 13 | 2313 | 40485991-40486003 |
| 465 | NAGLU | 17 | 0.86783154121864 | 295 | 2232 | 40688303-40688306, 40688341-40688516, 40688524-40688573, 40688607-40688643, 40695801, 40695809-40695833, 40695866-40695867 |
| 466 | WNK4 | 17 | 0.991961414791 | 30 | 3732 | 40932767, 40932771-40932774, 40932780-40932786, 40932790-40932791, 40932851-40932854, 40933108, 40933125-40933128, 40947904-40947910 |
| 467 | BRCA1 | 17 | 0.99982316534041 | 1 | 5655 | 41226356 |
| 468 | SOST | 17 | 0.85669781931464 | 92 | 642 | 41832785-41832791, 41832796-41832797, 41832805-41832806, 41832816-41832817, 41832849-41832895, 41832915-41832937, 41832992, 41833010-41833016, 41835970 |
| 469 | NAGS | 17 | 0.76448598130841 | 378 | 1605 | 42082032-42082120, 42082132-42082170, 42082185-42082258, 42082306-42082332, 42082390-42082419, 42083071-42083075, 42083163-42083165, 42083196, 42083209-42083216, 42083396-42083403, 42083408-42083411, 42083476-42083478, 42083489-42083531, 42083543-42083546, 42083995-42084034 |
| 470 | SLC4A1 | 17 | 0.98574561403509 | 39 | 2736 | 42328566-42328574, 42335035-42335038, 42335048-42335059, 42335096-42335100, 42335518-42335524, 42336943, 42337293 |
| 471 | GRN | 17 | 0.79741863075196 | 361 | 1782 | 42426617-42426635, 42426896-42426902, 42427834-42427845, 42427873-42427878, 42427889-42427893, 42427900, 42428129-42428133, 42428150-42428164, 42428786-42428790, 42428796, 42428799, 42428920, 42428925-42428929, 42428943-42428944, 42429098-42429099, 42429110-42429122, 42429530-42429533, 42429552-42429579, 42429587-42429605, 42429612-42429616, 42429709-42429746, 42429752-42429787, 42429811-42429840, 42429890-42429903, 42430029-42430103, 42430113-42430124 |
| 472 | ITGA2B | 17 | 0.98237179487179 | 55 | 3120 | 42452377, 42452380, 42452395, 42452399-42452400, 42452418-42452419, 42460894-42460900, 42460933-42460973 |
| 473 | PLEKHM1 | 17 | 0.98265531378114 | 55 | 3171 | 43515334-43515335, 43530784-43530790, 43531030, 43531173, 43531218-43531220, 43531484, 43531538-43531551, 43552534-43552540, 43552713-43552720, 43552918-43552924, 43553018, 43555462-43555464 |
| 474 | MAPT | 17 | 0.99270699270699 | 17 | 2331 | 44060715, 44061179-44061193, 44073821 |
| 475 | WNT3 | 17 | 0.93258426966292 | 72 | 1068 | 44845838, 44847364-44847367, 44847371, 44851035-44851046, 44851118-44851123, 44851132-44851145, 44851186-44851194, 44851203-44851222, 44851257-44851261 |
| 476 | ITGB3 | 17 | 0.97211660329531 | 66 | 2367 | 45331228-45331268, 45331281-45331298, 45369869-45369875 |
| 477 | SGCA | 17 | 0.99312714776632 | 8 | 1164 | 48245027-48245029, 48245057, 48247671, 48247699-48247701 |
| 478 | COL1A1 | 17 | 0.9806598407281 | 85 | 4395 | 48265936-48265969, 48266780-48266794, 48266805-48266814, 48269857-48269875, 48276793-48276797, 48276917, 48277131 |
| 479 | NOG | 17 | 0.67095851216023 | 230 | 699 | 54671585-54671602, 54671608-54671625, 54671632-54671701, 54671766-54671797, 54671825-54671869, 54671875-54671921 |
| 480 | MKS1 | 17 | 0.99642857142857 | 6 | 1680 | 56283495-56283500 |
| 481 | RAD51C | 17 | 0.99292661361627 | 8 | 1131 | 56770061-56770068 |
| 482 | TRIM37 | 17 | 0.98894645941278 | 32 | 2895 | 57105874-57105879, 57105892-57105914, 57125092, 57125095, 57181710 |
| 483 | AP1S2 | 17 | 0.91346153846154 | 54 | 624 | 58180022-58180047, 58180058-58180085 |
| 484 | CA4 | 17 | 0.98722044728435 | 12 | 939 | 58227396-58227403, 58235745-58235746, 58236666-58236667 |
| 485 | TBX4 | 17 | 0.94383394383394 | 92 | 1638 | 59533883-59533926, 59533958, 59533964-59533974, 59534002-59534037 |
| 486 | BRIP1 | 17 | 0.99626666666667 | 14 | 3750 | 59861745-59861758 |
| 487 | ACE | 17 | 0.92527416475389 | 293 | 3921 | 61554456-61554704, 61561791-61561793, 61564425, 61568394, 61570991, 61574188, 61574541-61574573, 61574695-61574698 |
| 488 | SCN4A | 17 | 0.99001996007984 | 55 | 5511 | 62019271-62019282, 62019291-62019293, 62022807-62022808, 62025974-62025984, 62029133-62029135, 62029236, 62038590-62038599, 62038763-62038765, 62038776-62038781, 62038788-62038791 |
| 489 | POLG2 | 17 | 0.99519890260631 | 7 | 1458 | 62492910-62492916 |
| 490 | AXIN2 | 17 | 0.97906793048973 | 53 | 2532 | 63533090-63533091, 63533097-63533101, 63533669-63533675, 63533749-63533751, 63533789, 63534321-63534339, 63534379, 63553986-63553996, 63554004, 63554007, 63554011, 63554094 |
| 491 | KCNJ2 | 17 | 0.99922118380062 | 1 | 1284 | 68171219 |
| 492 | SOX9 | 17 | 0.86797385620915 | 202 | 1530 | 70117599-70117600, 70117653-70117655, 70119739, 70119747-70119749, 70119766, 70119960-70119966, 70119972-70120092, 70120099-70120158, 70120234-70120236, 70120454 |
| 493 | COG1 | 17 | 0.93476044852192 | 192 | 2943 | 71189214-71189243, 71189261-71189299, 71189310-71189353, 71189392-71189422, 71189435-71189441, 71189488-71189523, 71193179-71193182, 71199239 |
| 494 | DNAI2 | 17 | 0.98404840484048 | 29 | 1818 | 72306223-72306251 |
| 495 | USH1G | 17 | 0.99134199134199 | 12 | 1386 | 72916207, 72916418, 72916428, 72916492-72916498, 72919023, 72919145 |
| 496 | TSEN54 | 17 | 0.89057558507274 | 173 | 1581 | 73512642-73512697, 73512834-73512942, 73513092, 73518137, 73518291, 73518294, 73518385-73518388 |
| 497 | ITGB4 | 17 | 0.94825379411227 | 283 | 5469 | 73726328-73726334, 73726423-73726425, 73726438-73726447, 73726457-73726505, 73726512-73726516, 73726526-73726532, 73726542, 73726580-73726585, 73732690, 73736057-73736059, 73736443-73736475, 73738464-73738467, 73738800-73738803, 73748352-73748355, 73749878, 73749930-73750049, 73751854-73751877, 73752526 |
| 498 | GALK1 | 17 | 0.89058524173028 | 129 | 1179 | 73754586-73754617, 73759149-73759170, 73759185-73759192, 73761112-73761117, 73761157-73761217 |
| 499 | UNC13D | 17 | 0.94867094408799 | 168 | 3273 | 73825049-73825064, 73826451-73826495, 73826502-73826508, 73827377-73827378, 73827382-73827385, 73830449-73830450, 73830736-73830737, 73831080-73831081, 73831492, 73831506-73831509, 73832166-73832175, 73832281-73832306, 73832426, 73832447, 73832731-73832734, 73832772-73832777, 73839565-73839599 |
| 500 | SEPT9 | 17 | 0.91084611016468 | 157 | 1761 | 75398375, 75398733, 75489140-75489158, 75494605-75494740 |
| 501 | GAA | 17 | 0.95837705491431 | 119 | 2859 | 78078521-78078526, 78078560-78078574, 78078705-78078725, 78086425-78086426, 78086434-78086435, 78086439, 78086447-78086471, 78086693-78086695, 78086702, 78091481, 78092533-78092574 |
| 502 | SGSH | 17 | 0.95427435387674 | 69 | 1509 | 78184442, 78184544, 78185949, 78194047-78194112 |
| 503 | ACTG1 | 17 | 0.99822695035461 | 2 | 1128 | 79477739-79477740 |
| 504 | FSCN2 | 17 | 0.88370520622042 | 172 | 1479 | 79495712-79495721, 79495726-79495737, 79495796-79495800, 79496161, 79503703-79503707, 79503931-79503962, 79503978-79503979, 79503990-79504088, 79504095-79504099, 79504106 |
| 505 | TGIF1 | 18 | 0.99585406301824 | 5 | 1206 | 3452214-3452215, 3452223-3452225 |
| 506 | NDUFV2 | 18 | 0.992 | 6 | 750 | 9102758-9102763 |
| 507 | AFG3L2 | 18 | 0.94569757727652 | 130 | 2394 | 12358846-12358847, 12370881-12370895, 12376969-12377081 |
| 508 | NPC1 | 18 | 0.99556945530362 | 17 | 3837 | 21116779-21116783, 21124935, 21124940, 21124954-21124955, 21136566, 21136569, 21136574-21136577, 21166285, 21166288 |
| 509 | LAMA3 | 18 | 0.97740451909618 | 226 | 10002 | 21269648-21269674, 21269681-21269717, 21269735-21269781, 21269803-21269846, 21390385-21390386, 21390391, 21419749, 21483053-21483070, 21483937, 21484544-21484581, 21484592-21484597, 21484648, 21484651, 21523795-21523796 |
| 510 | DSC3 | 18 | 0.98550724637681 | 39 | 2691 | 28574273, 28604376-28604390, 28622578-28622600 |
| 511 | DSC2 | 18 | 0.98152254249815 | 50 | 2706 | 28649045, 28659891, 28681866-28681913 |
| 512 | DSG2 | 18 | 0.98629728924635 | 46 | 3357 | 29078215-29078259, 29118807 |
| 513 | LOXHD1 | 18 | 0.98899939722725 | 73 | 6636 | 44057553, 44104520-44104539, 44126858-44126893, 44126921, 44140068-44140070, 44140075, 44140093-44140097, 44140131-44140136 |
| 514 | MYO5B | 18 | 0.98413556877591 | 88 | 5547 | 47363887, 47365554, 47365559, 47379917-47379919, 47379996-47380002, 47380008-47380017, 47390524, 47421404-47421452, 47429035, 47429090, 47429126-47429131, 47429146, 47429156-47429160, 47721163 |
| 515 | SMAD4 | 18 | 0.97769740807715 | 37 | 1659 | 48603055-48603090, 48603111 |
| 516 | FECH | 18 | 0.98139534883721 | 24 | 1290 | 55253795-55253818 |
| 517 | ATP8B1 | 18 | 0.99281150159744 | 27 | 3756 | 55328685-55328693, 55398952-55398969 |
| 518 | RAX | 18 | 0.6416906820365 | 373 | 1041 | 56936245-56936251, 56936285-56936308, 56936347-56936418, 56936434-56936567, 56936575-56936611, 56936637-56936659, 56936703, 56936706, 56940159-56940185, 56940204, 56940223-56940236, 56940255-56940286 |
| 519 | LMAN1 | 18 | 0.98956294846706 | 16 | 1533 | 57016409-57016411, 57026369, 57026381-57026382, 57026387, 57026395-57026402, 57026408 |
| 520 | CCBE1 | 18 | 0.92628992628993 | 90 | 1221 | 57134044-57134081, 57134091, 57134094, 57134098-57134101, 57364525-57364570 |
| 521 | TNFRSF11A | 18 | 0.92382495948136 | 141 | 1851 | 59992586-59992660, 60021711-60021715, 60021747-60021767, 60052082-60052087, 60052197-60052230 |
| 522 | CTDP1 | 18 | 0.87283437283437 | 367 | 2886 | 77439985-77440210, 77440255-77440261, 77456034-77456044, 77457928-77457932, 77474580-77474581, 77474729-77474736, 77496377-77496379, 77496384, 77496517-77496521, 77513663-77513711, 77513718-77513763, 77513787-77513790 |
| 523 | ELANE | 19 | 0.8134328358209 | 150 | 804 | 852964, 852967, 853009-853012, 853019, 853022, 853262-853403 |
| 524 | KISS1R | 19 | 0.47117794486216 | 633 | 1197 | 917503-917511, 917551-917558, 917576-917671, 917716-917732, 917745-917746, 918544-918579, 918605-918607, 918614-918619, 918643-918668, 919883-919889, 919898, 919904, 919908-919913, 919936-919937, 919963-919974, 919994-920000, 920024-920032, 920039-920046, 920058-920106, 920290-920502, 920554-920599, 920619-920648, 920660, 920666, 920701, 920706-920712, 920720-920748 |
| 525 | STK11 | 19 | 0.97619047619048 | 31 | 1302 | 1207040-1207046, 1219395-1219396, 1220381-1220402 |
| 526 | NDUFS7 | 19 | 0.99376947040498 | 4 | 642 | 1388529-1388531, 1395427 |
| 527 | GAMT | 19 | 0.87901234567901 | 98 | 810 | 1401305-1401332, 1401394-1401397, 1401401-1401410, 1401419-1401474 |
| 528 | RAX2 | 19 | 0.78918918918919 | 117 | 555 | 3770633-3770638, 3770667-3770770, 3770924-3770928, 3770939, 3770944 |
| 529 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 530 | TUBB4 | 19 | 0.93707865168539 | 84 | 1335 | 6495438-6495439, 6495530-6495542, 6495557-6495609, 6495621-6495624, 6495652, 6495655-6495656, 6495662-6495668, 6496037-6496038 |
| 531 | C3 | 19 | 0.96314102564103 | 184 | 4992 | 6693437-6693473, 6707087-6707118, 6707126-6707153, 6707174-6707184, 6707209-6707232, 6707257-6707284, 6707831-6707833, 6709724-6709726, 6713513-6713516, 6714003-6714012, 6714035-6714036, 6714186, 6720595 |
| 532 | INSR | 19 | 0.97879006989636 | 88 | 4149 | 7142831-7142832, 7293812-7293853, 7293859-7293902 |
| 533 | MCOLN1 | 19 | 0.9890992541595 | 19 | 1743 | 7591653, 7593850-7593856, 7594500-7594501, 7598512, 7598517-7598524 |
| 534 | PNPLA6 | 19 | 0.98318273092369 | 67 | 3984 | 7607447-7607455, 7607462-7607471, 7614884, 7614899, 7615904, 7615910-7615914, 7615926-7615933, 7616258-7616260, 7619848-7619850, 7619908, 7620222-7620227, 7620238-7620243, 7623823-7623830, 7626180-7626184 |
| 535 | STXBP2 | 19 | 0.96464646464646 | 63 | 1782 | 7706722-7706729, 7706738-7706739, 7706920-7706921, 7706928-7706930, 7706960-7706996, 7707117-7707120, 7711155-7711161 |
| 536 | ADAMTS10 | 19 | 0.95289855072464 | 156 | 3312 | 8649843, 8649893-8649928, 8650102-8650105, 8650155-8650158, 8650163-8650183, 8650452-8650469, 8650483-8650508, 8654143-8654149, 8654394-8654398, 8654460, 8654463, 8654465-8654467, 8660742-8660745, 8665930-8665936, 8670025-8670027, 8670078-8670086, 8670105-8670110 |
| 537 | TYK2 | 19 | 0.95987654320988 | 143 | 3564 | 10463169-10463171, 10463717-10463726, 10463749-10463774, 10464204-10464210, 10464220-10464231, 10464243-10464283, 10464315-10464317, 10465241, 10473035-10473037, 10473042-10473043, 10476361-10476368, 10476375-10476399, 10476423-10476424 |
| 538 | DNM2 | 19 | 0.92690394182932 | 191 | 2613 | 10828919-10829079, 10939761, 10939811-10939818, 10939823-10939827, 10939926-10939928, 10940888, 10940900-10940906, 10940918-10940921, 10941034 |
| 539 | LDLR | 19 | 0.99883855981417 | 3 | 2583 | 11200269-11200271 |
| 540 | PRKCSH | 19 | 0.96975425330813 | 48 | 1587 | 11546955, 11546958, 11558324-11558329, 11558337-11558376 |
| 541 | MAN2B1 | 19 | 0.95849802371542 | 126 | 3036 | 12758088-12758090, 12758390-12758397, 12759063-12759111, 12759139, 12759182, 12767854-12767860, 12767864, 12767870, 12768272-12768295, 12768317-12768338, 12777451-12777456, 12777503-12777505 |
| 542 | GCDH | 19 | 0.97873955960516 | 28 | 1317 | 13002134-13002157, 13006841-13006843, 13007149 |
| 543 | CACNA1A | 19 | 0.84470150245978 | 1168 | 7521 | 13318195-13318197, 13318239-13318246, 13318254-13318867, 13319600-13319613, 13319619-13319628, 13319693-13319695, 13397503-13397507, 13409489-13409498, 13409513-13409649, 13409658-13409694, 13409721-13409722, 13409744-13409748, 13409809-13409810, 13409814-13409818, 13409822, 13409828-13409841, 13409862-13409866, 13409876, 13409883-13409893, 13616746-13616897, 13616905-13617033 |
| 544 | NOTCH3 | 19 | 0.8931955211025 | 744 | 6966 | 15271757, 15271869-15271907, 15272151-15272154, 15272209-15272228, 15272235-15272243, 15272274, 15272380-15272383, 15272470, 15272473, 15276246-15276253, 15276689-15276694, 15281169, 15281175-15281181, 15281185-15281186, 15281220-15281223, 15281242, 15281249-15281257, 15281326-15281334, 15281337-15281358, 15281482-15281496, 15281516-15281562, 15281575-15281630, 15284980-15284986, 15285058, 15285068, 15285073, 15285098-15285099, 15288355-15288357, 15288370-15288381, 15288505, 15288509-15288512, 15288547-15288557, 15288568-15288815, 15288831-15288840, 15288849-15288851, 15288864-15288868, 15288881-15288886, 15291834-15291869, 15291922-15291928, 15296200, 15302246-15302261, 15311615-15311716 |
| 545 | CYP4F22 | 19 | 0.95363408521303 | 74 | 1596 | 15636248-15636272, 15636298-15636341, 15651463-15651467 |
| 546 | JAK3 | 19 | 0.96177777777778 | 129 | 3375 | 17940934-17940942, 17940961-17940994, 17941012-17941027, 17941312-17941331, 17942204-17942209, 17942597, 17942600, 17945484-17945511, 17953197, 17953274-17953276, 17953319-17953324, 17953860, 17955149, 17955161, 17955186 |
| 547 | SLC5A5 | 19 | 0.97567287784679 | 47 | 1932 | 17983280-17983288, 17983480-17983481, 17984964-17984967, 17984971-17984972, 17984998-17985000, 17985523, 17986856-17986861, 17986865-17986866, 17994516-17994519, 17994659-17994661, 17994670, 17994685-17994689, 17994693-17994695, 17994765, 17999245 |
| 548 | IL12RB1 | 19 | 0.99497234791352 | 10 | 1989 | 18197615-18197616, 18197621-18197628 |
| 549 | COMP | 19 | 0.81926121372032 | 411 | 2274 | 18896500-18896535, 18896542-18896576, 18896775-18896777, 18898441, 18899064-18899066, 18899229-18899264, 18899282-18899311, 18899410, 18899414-18899416, 18899423-18899432, 18899449-18899500, 18899536-18899559, 18899974-18900020, 18900031-18900036, 18900751-18900766, 18900783-18900838, 18900845-18900895, 18901379 |
| 550 | CEBPA | 19 | 0.23676880222841 | 822 | 1077 | 33792350-33792353, 33792429-33792434, 33792442, 33792445, 33792470, 33792507-33792515, 33792521-33793320 |
| 551 | SCN1B | 19 | 0.93184634448575 | 55 | 807 | 35521725-35521764, 35523440-35523443, 35524771-35524781 |
| 552 | MAG | 19 | 0.9638490164806 | 68 | 1881 | 35790607, 35790613-35790616, 35790729-35790741, 35790748-35790753, 35791054, 35791076-35791079, 35791086-35791111, 35791132-35791142, 35791232-35791233 |
| 553 | PRODH2 | 19 | 0.95716945996276 | 69 | 1611 | 36297367-36297369, 36297651, 36297943-36297958, 36303297-36303343, 36303560, 36303570 |
| 554 | NPHS1 | 19 | 0.96967257112185 | 113 | 3726 | 36336327-36336335, 36336600-36336624, 36336642-36336645, 36336657-36336700, 36339573-36339595, 36339603, 36339608-36339611, 36341967, 36341973-36341974 |
| 555 | TYROBP | 19 | 0.99115044247788 | 3 | 339 | 36399107, 36399120, 36399123 |
| 556 | SDHAF1 | 19 | 0.54885057471264 | 157 | 348 | 36486177-36486185, 36486198-36486244, 36486277-36486287, 36486295-36486327, 36486340-36486363, 36486399-36486420, 36486441-36486451 |
| 557 | WDR62 | 19 | 0.98578302712161 | 65 | 4572 | 36550932, 36558301-36558326, 36590347-36590350, 36590357, 36590364-36590368, 36595740-36595749, 36595855-36595863, 36595872, 36595886-36595893 |
| 558 | RYR1 | 19 | 0.94158893960442 | 883 | 15117 | 38931502, 38943591-38943595, 38954149-38954156, 38954162-38954164, 38956792-38956793, 38956847, 38956905-38956913, 38968400-38968403, 38976251-38976254, 38976268-38976332, 38976360-38976389, 38976666, 38976686-38976718, 38976780-38976781, 38976787-38976789, 38985094-38985131, 38987500-38987517, 38987528-38987543, 38990342-38990352, 38993174, 38993332-38993334, 38998411-38998429, 39018419-39018422, 39037085-39037106, 39037123-39037166, 39055620-39055668, 39055684-39055693, 39055712-39056171, 39056210, 39056213-39056215, 39056308-39056310, 39075645-39075654 |
| 559 | ACTN4 | 19 | 0.9437134502924 | 154 | 2736 | 39138423-39138462, 39138494-39138547, 39208703-39208706, 39215074-39215076, 39216452-39216503, 39219936 |
| 560 | DLL3 | 19 | 0.76952073236403 | 428 | 1857 | 39993462-39993690, 39997749, 39997806-39997909, 39997950-39997957, 39997963-39997964, 39998000-39998028, 39998044, 39998081-39998084, 39998087, 39998101-39998132, 39998143-39998156, 39998193, 39998198, 39998205 |
| 561 | PRX | 19 | 0.96283629730962 | 163 | 4386 | 40900669-40900671, 40900697-40900701, 40900856, 40901257, 40901303-40901317, 40901328-40901332, 40901346-40901347, 40902351, 40903425-40903426, 40903432-40903437, 40904529-40904530, 40904534-40904543, 40909613-40909637, 40909648-40909658, 40909676-40909734, 40909755-40909769 |
| 562 | TGFB1 | 19 | 0.92583120204604 | 87 | 1173 | 41837011, 41837021-41837024, 41837048-41837073, 41838071, 41858687-41858695, 41858703-41858704, 41858718-41858721, 41858756-41858761, 41858766-41858777, 41858915-41858936 |
| 563 | ATP1A3 | 19 | 0.96084828711256 | 144 | 3678 | 42470960-42470961, 42470968, 42471047-42471054, 42471086-42471096, 42471107-42471131, 42471194-42471195, 42471313-42471316, 42471322-42471378, 42479836-42479842, 42480568-42480578, 42480705-42480711, 42486181-42486182, 42486197-42486200, 42489323, 42489332, 42498228 |
| 564 | ETHE1 | 19 | 0.99607843137255 | 3 | 765 | 44031279-44031281 |
| 565 | BCAM | 19 | 0.94965553789083 | 95 | 1887 | 45312383-45312440, 45315429-45315430, 45323962-45323963, 45324029, 45324032, 45324038-45324049, 45324057-45324070, 45324174-45324178 |
| 566 | APOE | 19 | 0.65618448637317 | 328 | 954 | 45411882-45411926, 45411965-45411984, 45412002-45412008, 45412078-45412124, 45412145-45412159, 45412165-45412274, 45412327, 45412341-45412383, 45412462-45412467, 45412474-45412507 |
| 567 | BLOC1S3 | 19 | 0.48768472906404 | 312 | 609 | 45682580-45682585, 45682596-45682598, 45682666, 45682669-45682673, 45682693-45682697, 45682702, 45682778, 45682785-45682790, 45682831-45682832, 45682846-45683127 |
| 568 | ERCC2 | 19 | 0.96320630749014 | 84 | 2283 | 45854979, 45856397-45856404, 45867010-45867042, 45867047, 45867088-45867090, 45867122-45867123, 45867136-45867137, 45867146-45867149, 45867163-45867169, 45867305-45867327 |
| 569 | OPA3 | 19 | 0.99815837937385 | 1 | 543 | 46032419 |
| 570 | SIX5 | 19 | 0.72657657657658 | 607 | 2220 | 46268967-46268995, 46269239-46269240, 46269684-46269689, 46269766-46269769, 46269893-46269907, 46269912, 46269918-46269932, 46270149-46270164, 46270362, 46271317-46271337, 46271361, 46271435-46271439, 46271450, 46271456-46271488, 46271502-46271505, 46271522-46271609, 46271683-46271707, 46271709, 46271713-46271714, 46271717-46271725, 46271775-46272102 |
| 571 | DMPK | 19 | 0.8994708994709 | 190 | 1890 | 46273778-46273782, 46273809-46273832, 46274265-46274279, 46274289-46274304, 46274310-46274315, 46281385-46281402, 46281863, 46285494-46285537, 46285550-46285610 |
| 572 | FKRP | 19 | 0.53629032258065 | 690 | 1488 | 47258709-47258716, 47258787-47258790, 47258922-47258949, 47259017-47259056, 47259066-47259307, 47259320-47259326, 47259336-47259441, 47259459-47259540, 47259579-47259600, 47259611-47259652, 47259658-47259681, 47259709-47259714, 47259725-47259770, 47259793-47259796, 47259804-47259809, 47260041-47260055, 47260082, 47260086-47260087, 47260097, 47260105-47260107, 47260170 |
| 573 | CRX | 19 | 0.99666666666667 | 3 | 900 | 48342650-48342652 |
| 574 | DBP | 19 | 0.70552147239264 | 288 | 978 | 49138837-49139092, 49139118-49139127, 49139137-49139158 |
| 575 | BCAT2 | 19 | 0.9991518235793 | 1 | 1179 | 49314259 |
| 576 | MED25 | 19 | 0.93894830659537 | 137 | 2244 | 50321615-50321637, 50333133-50333160, 50333171-50333176, 50333472-50333473, 50333775-50333788, 50334105-50334108, 50334121-50334144, 50334604-50334618, 50335407-50335414, 50338792, 50338798, 50338806-50338809, 50338847, 50339046-50339048, 50339495, 50339572, 50339587 |
| 577 | PNKP | 19 | 0.93742017879949 | 98 | 1566 | 50364537-50364538, 50364882, 50365489-50365492, 50365628-50365630, 50365637-50365667, 50365795-50365816, 50365835-50365858, 50370439-50370449 |
| 578 | MYH14 | 19 | 0.96203567337588 | 232 | 6111 | 50713641-50713692, 50713731-50713735, 50713740-50713755, 50713976-50714017, 50714026, 50733833-50733843, 50733848-50733850, 50733858-50733863, 50753875-50753876, 50762415-50762418, 50762422, 50766627-50766628, 50766635, 50770230-50770240, 50779261-50779268, 50779276-50779277, 50779282, 50779288-50779296, 50779312-50779316, 50779339-50779359, 50779375, 50780102-50780103, 50784868-50784870, 50784926-50784945, 50792717-50792718, 50795635 |
| 579 | KCNC3 | 19 | 0.55101143359719 | 1021 | 2274 | 50823503-50823605, 50826274-50826294, 50826347-50826366, 50826397-50826453, 50826472, 50826563-50826567, 50826641, 50826724, 50831470-50831472, 50831491-50831498, 50831519-50832064, 50832085-50832339 |
| 580 | KLK4 | 19 | 0.98954248366013 | 8 | 765 | 51411644-51411645, 51412513, 51412611-51412615 |
| 581 | ETFB | 19 | 0.94908741594621 | 53 | 1041 | 51856433, 51856538-51856544, 51857404-51857444, 51857466, 51857469, 51857482-51857483 |
| 582 | NLRP12 | 19 | 0.93471437539234 | 208 | 3186 | 54313077-54313100, 54313439-54313442, 54313446-54313450, 54313587-54313588, 54313614-54313661, 54313754-54313761, 54313825-54313829, 54313854-54313860, 54313865-54313868, 54313875-54313887, 54313917-54313925, 54313934-54313942, 54313951-54313958, 54313965-54314009, 54314096-54314101, 54314280-54314281, 54314383-54314391 |
| 583 | PRKCG | 19 | 0.86914995224451 | 274 | 2094 | 54385749-54385795, 54385808-54385829, 54387483-54387487, 54392926-54392941, 54392947-54393001, 54393003, 54393140-54393266, 54410089 |
| 584 | PRPF31 | 19 | 0.99866666666667 | 2 | 1500 | 54632695-54632696 |
| 585 | TSEN34 | 19 | 0.90889603429796 | 85 | 933 | 54695248, 54695276-54695308, 54695317-54695361, 54695378-54695379, 54695419, 54696093-54696095 |
| 586 | NLRP7 | 19 | 0.98747591522158 | 39 | 3114 | 55450933-55450960, 55450975-55450985 |
| 587 | TNNT1 | 19 | 0.96704689480355 | 26 | 789 | 55648571, 55652300-55652306, 55657802-55657813, 55658049-55658053, 55658522 |
| 588 | TNNI3 | 19 | 0.90147783251232 | 60 | 609 | 55667571-55667630 |
| 589 | TPO | 2 | 0.895431834404 | 293 | 2802 | 1480859-1480866, 1480961-1480986, 1481018-1481041, 1481056-1481134, 1481140-1481179, 1481188-1481295, 1481369, 1497595-1497596, 1497612-1497614, 1507768-1507769 |
| 590 | RPS7 | 2 | 0.98632478632479 | 8 | 585 | 3623246-3623248, 3623254-3623258 |
| 591 | KLF11 | 2 | 0.96166341780377 | 59 | 1539 | 10183844-10183885, 10188428-10188434, 10188443-10188448, 10188457-10188460 |
| 592 | LPIN1 | 2 | 0.99812944257389 | 5 | 2673 | 11955316, 11955329-11955332 |
| 593 | MYCN | 2 | 0.69318996415771 | 428 | 1395 | 16082188-16082193, 16082198, 16082202, 16082382-16082414, 16082424-16082491, 16082520, 16082534-16082602, 16082638-16082846, 16082863-16082884, 16082892-16082909 |
| 594 | MATN3 | 2 | 0.86516084873374 | 197 | 1461 | 20212180-20212274, 20212284-20212296, 20212304-20212392 |
| 595 | APOB | 2 | 0.9918930762489 | 111 | 13692 | 21232988-21233023, 21266736-21266810 |
| 596 | POMC | 2 | 0.91169154228856 | 71 | 804 | 25384140-25384144, 25384151-25384158, 25384168-25384192, 25384316, 25384355-25384359, 25384416-25384440, 25384481, 25384488 |
| 597 | HADHA | 2 | 0.99825479930192 | 4 | 2292 | 26416482-26416485 |
| 598 | HADHB | 2 | 0.99859649122807 | 2 | 1425 | 26486345, 26508315 |
| 599 | OTOF | 2 | 0.95378712045379 | 277 | 5994 | 26696859-26696895, 26696922, 26696942, 26696948, 26697381-26697422, 26697540-26697542, 26699759-26699911, 26700053-26700055, 26700063, 26700066, 26700114-26700116, 26700123-26700131, 26700140-26700147, 26700530-26700537, 26700543-26700547, 26717900 |
| 600 | EIF2B4 | 2 | 0.99448529411765 | 9 | 1632 | 27592304, 27592851-27592858 |
| 601 | C2orf71 | 2 | 0.98603568657874 | 54 | 3867 | 29287844, 29287862-29287865, 29293820-29293845, 29293869-29293875, 29294056-29294057, 29295403-29295404, 29295446-29295447, 29295455, 29295458, 29295521-29295528 |
| 602 | ALK | 2 | 0.98519432449105 | 72 | 4863 | 29443620-29443626, 29462554-29462556, 29462634, 29462637, 29754884-29754892, 29754899-29754903, 29754919-29754920, 30143385-30143392, 30143408-30143433, 30143440, 30143444, 30143496-30143503 |
| 603 | XDH | 2 | 0.992003998001 | 32 | 4002 | 31571201-31571207, 31588343, 31604499-31604522 |
| 604 | SPAST | 2 | 0.82603997839006 | 322 | 1851 | 32288994-32289315 |
| 605 | CYP1B1 | 2 | 0.85171568627451 | 242 | 1632 | 38301669, 38301677, 38301681, 38301903, 38301955-38301963, 38301972-38302014, 38302047-38302064, 38302069, 38302075, 38302090-38302096, 38302159-38302227, 38302240-38302241, 38302279-38302329, 38302387-38302417, 38302439-38302444 |
| 606 | SOS1 | 2 | 0.99925037481259 | 3 | 4002 | 39224558, 39285828-39285829 |
| 607 | ABCG5 | 2 | 0.93711656441718 | 123 | 1956 | 44047125, 44050058-44050061, 44058916-44058919, 44058938-44058950, 44058966-44059006, 44059100-44059107, 44059112-44059116, 44059124-44059127, 44059138-44059144, 44059152-44059161, 44059185-44059210 |
| 608 | ABCG8 | 2 | 0.99307616221563 | 14 | 2022 | 44099373-44099378, 44099440, 44102349-44102355 |
| 609 | LRPPRC | 2 | 0.99665471923536 | 14 | 4185 | 44126677-44126678, 44222955, 44223035-44223038, 44223079-44223085 |
| 610 | SIX3 | 2 | 0.86986986986987 | 130 | 999 | 45169324-45169399, 45169435-45169437, 45169456-45169458, 45169520-45169527, 45169593-45169601, 45169638-45169650, 45169791-45169794, 45170025-45170033, 45171746-45171750 |
| 611 | EPCAM | 2 | 0.94391534391534 | 53 | 945 | 47596645-47596649, 47596667-47596699, 47606133-47606147 |
| 612 | MSH6 | 2 | 0.93632133235366 | 260 | 4083 | 48010373-48010632 |
| 613 | LHCGR | 2 | 0.95333333333333 | 98 | 2100 | 48982661-48982704, 48982751-48982804 |
| 614 | FSHR | 2 | 0.9985632183908 | 3 | 2088 | 49190046, 49190580-49190581 |
| 615 | NRXN1 | 2 | 0.97875706214689 | 94 | 4425 | 50758477-50758491, 51254910-51254919, 51254927-51254932, 51254936-51254938, 51255061-51255064, 51255080, 51255107-51255110, 51255114-51255119, 51255124-51255129, 51255142-51255154, 51255160-51255163, 51255272-51255290, 51255323-51255325 |
| 616 | EFEMP1 | 2 | 0.99730094466937 | 4 | 1482 | 56103874-56103877 |
| 617 | ATP6V1B1 | 2 | 0.95330739299611 | 72 | 1542 | 71163085-71163133, 71188053-71188072, 71192229, 71192237, 71192251 |
| 618 | MCEE | 2 | 0.99811676082863 | 1 | 531 | 71337110 |
| 619 | DYSF | 2 | 0.99229559748428 | 49 | 6360 | 71693973-71693977, 71694035-71694053, 71753422-71753425, 71753457-71753459, 71753467-71753476, 71783137-71783140, 71801441, 71827901-71827903 |
| 620 | SPR | 2 | 0.65903307888041 | 268 | 786 | 73114562-73114734, 73114746-73114754, 73114765-73114846, 73118516, 73118578-73118580 |
| 621 | ALMS1 | 2 | 0.98784388995521 | 152 | 12504 | 73612997-73613074, 73613262-73613285, 73676167-73676169, 73676177-73676188, 73676194-73676198, 73676466-73676467, 73676612-73676614, 73676645-73676657, 73676666-73676669, 73679704, 73679746, 73746943-73746948 |
| 622 | SLC4A5 | 2 | 0.99121265377856 | 30 | 3414 | 74460571-74460576, 74513013-74513029, 74531616-74531621, 74542075 |
| 623 | DCTN1 | 2 | 0.99426635392234 | 22 | 3837 | 74590488-74590492, 74593119, 74596301-74596303, 74596447, 74596493-74596496, 74596557, 74605329-74605335 |
| 624 | MOGS | 2 | 0.96340493237868 | 92 | 2514 | 74690041-74690046, 74691646, 74692099-74692107, 74692113-74692158, 74692239-74692242, 74692349-74692374 |
| 625 | HTRA2 | 2 | 0.93100944081336 | 95 | 1377 | 74757170-74757174, 74757231-74757274, 74757333-74757359, 74757379-74757393, 74757459-74757462 |
| 626 | SUCLG1 | 2 | 0.99231508165226 | 8 | 1041 | 84668540, 84686364-84686370 |
| 627 | GGCX | 2 | 0.9925340360123 | 17 | 2277 | 85788524-85788525, 85788530-85788535, 85788543-85788551 |
| 628 | SFTPB | 2 | 0.98167539267016 | 21 | 1146 | 85895260-85895280 |
| 629 | REEP1 | 2 | 0.94554455445545 | 33 | 606 | 86479089, 86564602-86564633 |
| 630 | EIF2AK3 | 2 | 0.96717397791704 | 110 | 3351 | 88926641-88926646, 88926653-88926655, 88926658, 88926668-88926710, 88926724-88926780 |
| 631 | TMEM127 | 2 | 0.88702928870293 | 81 | 717 | 96930907-96930927, 96930991, 96931006-96931029, 96931056-96931063, 96931067, 96931073-96931091, 96931106-96931112 |
| 632 | SNRNP200 | 2 | 0.9998440180939 | 1 | 6411 | 96964609 |
| 633 | ZAP70 | 2 | 0.95215053763441 | 89 | 1860 | 98340685-98340687, 98340696-98340704, 98340712-98340713, 98340752, 98340755, 98340766-98340770, 98340800, 98340839-98340862, 98341659, 98341666-98341669, 98349397, 98354036-98354040, 98354047-98354070, 98354081-98354086, 98354510-98354511 |
| 634 | CNGA3 | 2 | 0.99664268585132 | 7 | 2085 | 98996657-98996663 |
| 635 | RANBP2 | 2 | 0.96589147286822 | 330 | 9675 | 109336127-109336134, 109352102, 109352188, 109352637-109352644, 109357110-109357116, 109365376, 109367754, 109368104-109368111, 109368433, 109371361-109371362, 109371656-109371662, 109374947-109374990, 109378557-109378558, 109382787-109382796, 109383027-109383058, 109383107-109383148, 109383207, 109383262-109383289, 109383315-109383321, 109383769-109383806, 109383822-109383841, 109383968-109384013, 109384469, 109384714-109384727 |
| 636 | NPHP1 | 2 | 0.99705014749263 | 6 | 2034 | 110917744-110917749 |
| 637 | MERTK | 2 | 0.981 | 57 | 3000 | 112656313-112656362, 112656373, 112765973-112765976, 112786046, 112786196 |
| 638 | GLI2 | 2 | 0.78029825666877 | 1046 | 4761 | 121555013-121555026, 121709009-121709011, 121726365, 121726447-121726465, 121727988, 121727992-121727993, 121728008-121728044, 121728096-121728108, 121729591, 121745908-121745926, 121745939-121745942, 121745969-121745970, 121745978-121746000, 121746004-121746009, 121746042-121746043, 121746078-121746505, 121746517-121746523, 121746540-121746545, 121746566, 121746569, 121746635-121746641, 121746651-121746695, 121746737-121746749, 121746774-121746822, 121746864-121746865, 121746949-121746957, 121747054-121747063, 121747103, 121747152-121747168, 121747183-121747233, 121747253, 121747326-121747332, 121747339-121747436, 121747457-121747499, 121747574-121747622, 121747639-121747675, 121747785-121747801 |
| 639 | BIN1 | 2 | 0.94668911335578 | 95 | 1782 | 127806128-127806130, 127808055, 127808071, 127808075, 127808378-127808386, 127808404-127808417, 127808482-127808488, 127808789-127808790, 127808798-127808801, 127811021, 127811557-127811560, 127816630-127816633, 127864445-127864463, 127864488-127864510, 127864518-127864519 |
| 640 | PROC | 2 | 0.89393939393939 | 147 | 1386 | 128178865-128178911, 128178987, 128180516-128180517, 128180610-128180611, 128180636-128180663, 128180683-128180747, 128186110-128186111 |
| 641 | CFC1 | 2 | 0.80357142857143 | 132 | 672 | 131280371-131280477, 131285309-131285333 |
| 642 | RAB3GAP1 | 2 | 0.99966055668703 | 1 | 2946 | 135911381 |
| 643 | LCT | 2 | 0.99170124481328 | 48 | 5784 | 136561577, 136561651-136561654, 136575552-136575558, 136590684-136590696, 136590743-136590756, 136594200-136594203, 136594207, 136594226-136594229 |
| 644 | MCM6 | 2 | 0.98175182481752 | 45 | 2466 | 136616947-136616984, 136633914-136633920 |
| 645 | ZEB2 | 2 | 0.97887517146776 | 77 | 3645 | 145161522-145161525, 145274845-145274917 |
| 646 | NEB | 2 | 0.99779713627716 | 44 | 19974 | 152390751-152390756, 152402512, 152403951-152403957, 152417765-152417770, 152423894, 152432809-152432820, 152470824-152470825, 152473963, 152497128, 152514532, 152554071-152554074, 152584331, 152584334 |
| 647 | CACNB4 | 2 | 0.99424184261036 | 9 | 1563 | 152955481-152955489 |
| 648 | SCN2A | 2 | 0.98255234297109 | 105 | 6018 | 166170412-166170426, 166172004-166172006, 166179718, 166179722, 166179726-166179728, 166187876-166187885, 166187928, 166187944, 166187949, 166187967, 166188060, 166210773-166210778, 166210847, 166211017-166211063, 166211093-166211094, 166211145-166211148, 166223862-166223868 |
| 649 | GALNT3 | 2 | 0.99894847528917 | 2 | 1902 | 166611150-166611151 |
| 650 | SCN1A | 2 | 0.99833249958312 | 10 | 5997 | 166847804-166847805, 166848692, 166848796, 166848812-166848815, 166892603-166892604 |
| 651 | SCN9A | 2 | 0.99662959218065 | 20 | 5934 | 167083214, 167085409, 167141117-167141134 |
| 652 | ABCB11 | 2 | 0.99924357034796 | 3 | 3966 | 169789028-169789030 |
| 653 | SLC25A12 | 2 | 0.99214531173294 | 16 | 2037 | 172641805-172641818, 172750713-172750714 |
| 654 | ITGA6 | 2 | 0.94413919413919 | 183 | 3276 | 173292517-173292698, 173338881 |
| 655 | CHRNA1 | 2 | 0.98180494905386 | 25 | 1374 | 175618396-175618410, 175618429-175618438 |
| 656 | CHN1 | 2 | 0.98623188405797 | 19 | 1380 | 175869622-175869640 |
| 657 | HOXD13 | 2 | 0.57461240310078 | 439 | 1032 | 176957619-176957858, 176957875-176958061, 176958264-176958275 |
| 658 | AGPS | 2 | 0.98988366211431 | 20 | 1977 | 178257577, 178257591-178257594, 178257605-178257619 |
| 659 | PRKRA | 2 | 0.98619957537155 | 13 | 942 | 179315699-179315700, 179315717-179315727 |
| 660 | TTN | 2 | 0.99877304285372 | 123 | 100248 | 179392332-179392369, 179392381-179392384, 179408713, 179422633-179422634, 179422824-179422825, 179425474, 179425503, 179431370, 179437809, 179437871-179437873, 179437956, 179437966, 179438132-179438137, 179438196, 179447754-179447757, 179448591-179448593, 179465636, 179466741, 179482758, 179510700-179510702, 179510735-179510753, 179514962-179514966, 179516652-179516655, 179565930, 179575595, 179597767-179597771, 179597996-179597999, 179598164-179598166, 179629004, 179641436, 179650815-179650817 |
| 661 | NEUROD1 | 2 | 0.99719887955182 | 3 | 1071 | 182542831-182542833 |
| 662 | COL3A1 | 2 | 0.98182231311066 | 80 | 4401 | 189860444-189860449, 189860476-189860503, 189867734, 189867745-189867751, 189871663-189871681, 189872611-189872629 |
| 663 | COL5A2 | 2 | 0.99111111111111 | 40 | 4500 | 189904136-189904137, 189910583-189910591, 189918182, 189925469-189925471, 189929339-189929341, 189932768-189932789 |
| 664 | PMS1 | 2 | 0.99821364773133 | 5 | 2799 | 190682810-190682813, 190719100 |
| 665 | MSTN | 2 | 0.99822695035461 | 2 | 1128 | 190926992-190926993 |
| 666 | STAT1 | 2 | 0.99201065246338 | 18 | 2253 | 191843669-191843673, 191859862-191859866, 191859877, 191859884, 191859888-191859893 |
| 667 | HSPD1 | 2 | 0.97560975609756 | 42 | 1722 | 198351826-198351867 |
| 668 | CASP10 | 2 | 0.9993626513703 | 1 | 1569 | 202050781 |
| 669 | CASP8 | 2 | 0.95732838589981 | 69 | 1617 | 202137491-202137494, 202149609-202149617, 202149627-202149682 |
| 670 | ALS2 | 2 | 0.99959790912746 | 2 | 4974 | 202593336-202593337 |
| 671 | BMPR2 | 2 | 0.99967917869747 | 1 | 3117 | 203420804 |
| 672 | NDUFS1 | 2 | 0.99954212454212 | 1 | 2184 | 207014545 |
| 673 | FASTKD2 | 2 | 0.9803094233474 | 42 | 2133 | 207652767-207652779, 207652821-207652843, 207652863-207652868 |
| 674 | ACADL | 2 | 0.9938128383604 | 8 | 1293 | 211068113, 211089912-211089918 |
| 675 | CPS1 | 2 | 0.99600266489007 | 18 | 4503 | 211455581-211455583, 211455590-211455592, 211455619-211455630 |
| 676 | ABCA12 | 2 | 0.99101181304571 | 70 | 7788 | 215815676, 215854053-215854071, 215854081-215854094, 215854174-215854183, 215854288-215854296, 215854309-215854319, 215854331, 215854337-215854341 |
| 677 | SMARCAL1 | 2 | 0.99406631762653 | 17 | 2865 | 217280176, 217297469, 217297472, 217347658-217347671 |
| 678 | PNKD | 2 | 0.97927461139896 | 24 | 1158 | 219204567-219204573, 219204587, 219204593-219204608 |
| 679 | WNT10A | 2 | 0.86682615629984 | 167 | 1254 | 219745728-219745748, 219745785-219745795, 219754964, 219757602-219757605, 219757613, 219757658-219757706, 219757712-219757744, 219757760-219757790, 219757824-219757826, 219757874-219757877, 219757902-219757904, 219757918-219757923 |
| 680 | DES | 2 | 0.87261146496815 | 180 | 1413 | 220283186-220283187, 220283196, 220283201, 220283204, 220283255-220283292, 220283303, 220283356-220283362, 220283395-220283403, 220283414-220283460, 220283566-220283572, 220283587-220283624, 220283704-220283731 |
| 681 | OBSL1 | 2 | 0.83605693199789 | 933 | 5691 | 220416267-220416291, 220416315-220416338, 220416396-220416404, 220416410-220416429, 220416456-220416485, 220417263-220417269, 220417285-220417343, 220417354-220417361, 220417368-220417419, 220417611-220417614, 220417730-220417739, 220420892-220420893, 220423039, 220432593, 220432920, 220434995-220435002, 220435011, 220435083, 220435228-220435229, 220435245-220435251, 220435283-220435329, 220435341-220435954 |
| 682 | PAX3 | 2 | 0.99802371541502 | 3 | 1518 | 223066826-223066827, 223161789 |
| 683 | COL4A4 | 2 | 0.99111374407583 | 45 | 5064 | 227872819, 227920739-227920741, 227973959-227973981, 227973986, 227985821-227985837 |
| 684 | COL4A3 | 2 | 0.98823060043886 | 59 | 5013 | 228029468-228029471, 228029507-228029529, 228113219-228113225, 228141164, 228144527, 228162422-228162427, 228162459-228162461, 228162513-228162518, 228163404-228163410, 228163516 |
| 685 | SLC19A3 | 2 | 0.95975855130785 | 60 | 1491 | 228563648-228563654, 228563988-228563997, 228564003-228564012, 228564019-228564028, 228564050-228564071, 228564141 |
| 686 | CHRND | 2 | 0.997425997426 | 4 | 1554 | 233390929-233390932 |
| 687 | CHRNG | 2 | 0.94980694980695 | 78 | 1554 | 233405312-233405321, 233405331-233405349, 233409161-233409188, 233409193, 233409202-233409206, 233409210, 233409241-233409243, 233409250-233409254, 233409258-233409261, 233409538, 233410291 |
| 688 | SAG | 2 | 0.99507389162562 | 6 | 1218 | 234243635, 234243642-234243646 |
| 689 | UGT1A1 | 2 | 0.99875156054931 | 2 | 1602 | 234669037-234669038 |
| 690 | COL6A3 | 2 | 0.98132997692469 | 178 | 9534 | 238244902, 238249297, 238249505-238249506, 238250747-238250751, 238250762, 238252996-238253001, 238270432-238270436, 238283065-238283115, 238283333-238283342, 238283348-238283363, 238283428-238283433, 238283446, 238283450-238283451, 238287535-238287568, 238303432, 238303437-238303463, 238303489, 238303501-238303508 |
| 691 | AGXT | 2 | 0.94826123833757 | 61 | 1179 | 241808283-241808310, 241808321-241808350, 241808391-241808393 |
| 692 | D2HGDH | 2 | 0.87228607918263 | 200 | 1566 | 242674721-242674723, 242674730-242674733, 242674861, 242674864, 242674895-242674922, 242680500-242680505, 242689612, 242695421-242695429, 242707152-242707164, 242707191-242707216, 242707231-242707235, 242707243-242707244, 242707249, 242707253-242707259, 242707280-242707372 |
| 693 | C20orf54 | 20 | 0.97730496453901 | 32 | 1410 | 744369-744373, 745941-745945, 745954-745966, 746304-746307, 746407-746411 |
| 694 | IDH3B | 20 | 0.9853195164076 | 17 | 1158 | 2640427, 2641123-2641126, 2641181-2641192 |
| 695 | AVP | 20 | 0.27676767676768 | 358 | 495 | 3063276-3063448, 3063623-3063709, 3063716-3063763, 3063775-3063824 |
| 696 | PANK2 | 20 | 0.76824284880327 | 397 | 1713 | 3869773-3869776, 3869863-3869914, 3869933-3870021, 3870028-3870032, 3870076, 3870096-3870112, 3870120-3870145, 3870152-3870309, 3870331-3870375 |
| 697 | FERMT1 | 20 | 0.99803343166175 | 4 | 2034 | 6077549-6077551, 6091069 |
| 698 | MKKS | 20 | 0.9994162288383 | 1 | 1713 | 10385979 |
| 699 | JAG1 | 20 | 0.97621000820345 | 87 | 3657 | 10620287, 10623160-10623161, 10653419, 10653544-10653551, 10654104-10654178 |
| 700 | C20orf7 | 20 | 0.98073217726397 | 20 | 1038 | 13765763-13765766, 13765926-13765936, 13782216-13782220 |
| 701 | THBD | 20 | 0.88946759259259 | 191 | 1728 | 23028953-23028962, 23029299-23029335, 23029457-23029464, 23029540-23029546, 23029583-23029587, 23029636-23029675, 23029688-23029700, 23029713-23029746, 23029830-23029836, 23029885-23029906, 23029919, 23030015, 23030105-23030110 |
| 702 | SNTA1 | 20 | 0.79776021080369 | 307 | 1518 | 32000102-32000123, 32000167, 32000207-32000209, 32031146-32031426 |
| 703 | GDF5 | 20 | 0.95086321381142 | 74 | 1506 | 34022218-34022220, 34022395-34022396, 34022402-34022413, 34022432, 34025162-34025169, 34025176, 34025181-34025201, 34025226-34025232, 34025520, 34025528-34025534, 34025544-34025552, 34025560-34025561 |
| 704 | SAMHD1 | 20 | 0.99096225412015 | 17 | 1881 | 35579857-35579859, 35579863-35579872, 35579884-35579887 |
| 705 | HNF4A | 20 | 0.97754385964912 | 32 | 1425 | 43052714, 43052717, 43052730, 43052752-43052773, 43052780-43052786 |
| 706 | ADA | 20 | 0.97802197802198 | 24 | 1092 | 43255136-43255145, 43255147, 43257765, 43257769-43257773, 43280216-43280218, 43280245-43280248 |
| 707 | CTSA | 20 | 0.97060788243153 | 44 | 1497 | 44520234-44520257, 44520272-44520277, 44520284-44520292, 44520299, 44523633-44523636 |
| 708 | CD40 | 20 | 0.99760191846523 | 2 | 834 | 44756969-44756970 |
| 709 | SLC2A10 | 20 | 0.97847478474785 | 35 | 1626 | 45338376, 45354150, 45354154-45354159, 45354168-45354175, 45354296-45354297, 45354509, 45354701-45354702, 45354884, 45354890-45354900, 45354907, 45354911 |
| 710 | SALL4 | 20 | 0.98608475648324 | 44 | 3162 | 50406855-50406856, 50407200-50407203, 50408288-50408289, 50408295-50408297, 50408336-50408357, 50408437-50408438, 50418838-50418842, 50418944-50418947 |
| 711 | PCK1 | 20 | 0.99892990904227 | 2 | 1869 | 56137828-56137829 |
| 712 | VAPB | 20 | 0.9207650273224 | 58 | 732 | 56964516-56964573 |
| 713 | GNAS | 20 | 0.94579945799458 | 40 | 738 | 57415179-57415208, 57415231-57415234, 57415267, 57415272-57415273, 57415586-57415588 |
| 714 | GNAS | 20 | 0.83558124598587 | 512 | 3114 | 57428717-57428720, 57428890-57428904, 57429065-57429110, 57429251-57429280, 57429418-57429487, 57429494-57429502, 57429529-57429565, 57429583-57429624, 57429660, 57429663, 57429667-57429668, 57429671, 57429681-57429690, 57429754-57429801, 57429825-57429883, 57429924-57429966, 57429985, 57429989-57429998, 57430003, 57430037-57430054, 57430093-57430134, 57430172-57430177, 57430243-57430254, 57430265-57430266, 57430271-57430272 |
| 715 | EDN3 | 20 | 0.9860529986053 | 10 | 717 | 57875910-57875919 |
| 716 | COL9A3 | 20 | 0.92846715328467 | 147 | 2055 | 61448417-61448494, 61448926-61448972, 61456343-61456345, 61456349-61456354, 61456361-61456373 |
| 717 | CHRNA4 | 20 | 0.90552016985138 | 178 | 1884 | 61981091-61981094, 61981121-61981127, 61981335, 61981338, 61981574-61981617, 61981681-61981720, 61981766-61981770, 61992442-61992517 |
| 718 | KCNQ2 | 20 | 0.84154257350134 | 415 | 2619 | 62038012-62038016, 62038055-62038060, 62038271-62038279, 62038361-62038372, 62038563-62038568, 62038588-62038620, 62038639-62038644, 62044847-62044854, 62059766-62059769, 62076655-62076668, 62078100-62078121, 62103521-62103757, 62103764-62103816 |
| 719 | SOX18 | 20 | 0.13679653679654 | 997 | 1155 | 62679552-62679555, 62679561, 62679572, 62679575, 62679611-62679615, 62679624-62679639, 62679651-62679657, 62679664-62679669, 62679680-62679682, 62679721-62680315, 62680512-62680869 |
| 720 | APP | 21 | 0.97665369649805 | 54 | 2313 | 27423334-27423335, 27542882-27542893, 27542899-27542938 |
| 721 | BACH1 | 21 | 0.96381727725011 | 80 | 2211 | 30715016-30715054, 30715060-30715091, 30715111-30715119 |
| 722 | SOD1 | 21 | 0.98709677419355 | 6 | 465 | 33032099, 33032106, 33032111-33032114 |
| 723 | IFNGR2 | 21 | 0.89842209072978 | 103 | 1014 | 34775850-34775922, 34799238-34799267 |
| 724 | RCAN1 | 21 | 0.66798418972332 | 252 | 759 | 35987059-35987310 |
| 725 | RUNX1 | 21 | 0.91198891198891 | 127 | 1443 | 36164432-36164476, 36164556, 36164610-36164614, 36259213, 36259217-36259218, 36259286-36259321, 36259348-36259384 |
| 726 | CLDN14 | 21 | 0.99861111111111 | 1 | 720 | 37833393 |
| 727 | TMPRSS3 | 21 | 0.99120879120879 | 12 | 1365 | 43809073-43809075, 43809087-43809094, 43809100 |
| 728 | CSTB | 21 | 0.77777777777778 | 66 | 297 | 45196085-45196150 |
| 729 | AIRE | 21 | 0.77960927960928 | 361 | 1638 | 45705890-45706021, 45706459-45706472, 45706580-45706582, 45706870-45706873, 45706880-45706889, 45706980-45706985, 45708280-45708286, 45711014-45711036, 45711088-45711093, 45712204-45712208, 45712906-45712911, 45712916, 45712920-45712922, 45712929, 45712935-45712937, 45712952-45712977, 45712991-45713020, 45713036-45713058, 45713783, 45714284-45714307, 45714334-45714346, 45714367-45714386 |
| 730 | ITGB2 | 21 | 0.92813852813853 | 166 | 2310 | 46306759, 46306766-46306778, 46308608-46308718, 46308736-46308739, 46308758-46308793, 46309385 |
| 731 | COL18A1 | 21 | 0.91111111111111 | 468 | 5265 | 46875484-46875500, 46875509-46875516, 46876177-46876179, 46876202-46876225, 46876320-46876326, 46876471, 46876474-46876475, 46876483-46876494, 46876500-46876517, 46876523-46876556, 46876572-46876574, 46876654-46876670, 46876705-46876709, 46876713, 46876719-46876723, 46888179, 46888223-46888243, 46888643, 46888646-46888648, 46897708-46897710, 46906805-46906806, 46906818-46906822, 46906826-46906828, 46906834-46906878, 46908336-46908341, 46911180, 46913077-46913089, 46913114-46913128, 46913415-46913438, 46913466, 46916448-46916453, 46924408-46924452, 46929313-46929317, 46929363-46929365, 46929455-46929470, 46929978-46929997, 46930032-46930053, 46930149, 46930162-46930165, 46931060, 46931071, 46931084-46931088, 46931099, 46932143-46932179 |
| 732 | COL6A1 | 21 | 0.93553611920959 | 199 | 3087 | 47401765-47401847, 47404287, 47404294, 47410172-47410178, 47419126-47419132, 47419571-47419594, 47420673-47420681, 47421275-47421276, 47422200-47422201, 47422292-47422315, 47423405-47423410, 47423414, 47423485-47423515, 47423535 |
| 733 | COL6A2 | 21 | 0.88235294117647 | 360 | 3060 | 47531391-47531399, 47531416-47531444, 47531492-47531493, 47531952, 47538551-47538552, 47539702-47539709, 47539755-47539761, 47541008, 47541481-47541485, 47542060, 47545180-47545182, 47545192, 47545521-47545531, 47545699-47545716, 47545754-47545796, 47545808-47545814, 47545943-47545965, 47545978-47545988, 47546092-47546108, 47546134-47546139, 47551876-47551901, 47551974-47552012, 47552075-47552088, 47552096-47552103, 47552192-47552197, 47552206-47552208, 47552334-47552351, 47552367-47552377, 47552417-47552446 |
| 734 | COL6A2 | 21 | 0.78947368421053 | 72 | 342 | 47552192-47552197, 47552206-47552208, 47552334-47552351, 47552367-47552377, 47552417-47552446, 47552489-47552492 |
| 735 | FTCD | 21 | 0.95571955719557 | 72 | 1626 | 47565459-47565492, 47565732-47565762, 47565790, 47565801-47565804, 47574171, 47574234 |
| 736 | PCNT | 21 | 0.98062131655179 | 194 | 10011 | 47744158-47744192, 47754449, 47754510, 47766859-47766862, 47771386-47771389, 47783708, 47783711, 47783725, 47783733, 47783737, 47786592-47786598, 47786675, 47801690-47801694, 47810745, 47817998-47818011, 47831308, 47831314-47831317, 47831368, 47831371, 47831447-47831488, 47831784-47831785, 47832851, 47836132-47836137, 47836715-47836723, 47848365, 47848420-47848432, 47848439-47848447, 47850027, 47850038-47850039, 47850126-47850130, 47850137-47850140, 47850480-47850487, 47858095-47858100 |
| 737 | PEX26 | 22 | 0.96949891067538 | 28 | 918 | 18561206-18561210, 18561218-18561240 |
| 738 | PRODH | 22 | 0.8075429839157 | 347 | 1803 | 18900772-18900781, 18904411-18904447, 18905842-18905845, 18908874, 18908889-18908910, 18908919-18908922, 18923532-18923800 |
| 739 | GP1BB | 22 | 0.072463768115942 | 576 | 621 | 19711382-19711392, 19711402-19711890, 19711897-19711972 |
| 740 | TBX1 | 22 | 0.34677419354839 | 972 | 1488 | 19748428-19748803, 19753283-19753348, 19753425-19753525, 19753912-19754328, 19754346-19754357 |
| 741 | SMARCB1 | 22 | 0.9006908462867 | 115 | 1158 | 24129357-24129449, 24175809-24175830 |
| 742 | UPB1 | 22 | 0.97922077922078 | 24 | 1155 | 24906745-24906755, 24906766, 24919656-24919667 |
| 743 | HPS4 | 22 | 0.99195075757576 | 17 | 2112 | 26860060-26860066, 26860072, 26860082, 26860310-26860311, 26860317, 26860334-26860336, 26860340-26860341 |
| 744 | CHEK2 | 22 | 0.9778534923339 | 39 | 1761 | 29083906-29083916, 29083959-29083965, 29085158-29085171, 29126433, 29126445-29126448, 29130682-29130683 |
| 745 | NF2 | 22 | 0.99776286353468 | 4 | 1788 | 30057254-30057256, 30067857 |
| 746 | SLC5A1 | 22 | 0.98696741854637 | 26 | 1995 | 32463988, 32495182-32495188, 32495194-32495201, 32495224-32495233 |
| 747 | TIMP3 | 22 | 0.9874213836478 | 8 | 636 | 33253273-33253280 |
| 748 | MYH9 | 22 | 0.9937106918239 | 37 | 5883 | 36688098-36688125, 36690149-36690151, 36697594-36697595, 36701090-36701093 |
| 749 | TRIOBP | 22 | 0.9668920822767 | 235 | 7098 | 38119798-38119804, 38119829-38119862, 38119883-38119897, 38120030-38120044, 38120175-38120199, 38120297-38120303, 38120426-38120432, 38121421-38121427, 38121926-38121928, 38122039, 38122122-38122123, 38122428-38122431, 38122436-38122456, 38122462, 38129327-38129371, 38131428-38131429, 38147794-38147799, 38147822-38147835, 38153889, 38153917-38153922, 38153935, 38153941, 38161732, 38161736-38161741, 38161746-38161748 |
| 750 | SOX10 | 22 | 0.88865096359743 | 156 | 1401 | 38369976, 38379411-38379413, 38379471, 38379538, 38379545, 38379548-38379552, 38379561-38379566, 38379654-38379791 |
| 751 | EP300 | 22 | 0.95942028985507 | 294 | 7245 | 41523519-41523521, 41523670, 41545042, 41546092-41546097, 41546103-41546129, 41546152, 41573201, 41573747-41573753, 41573766, 41573795, 41573799-41573807, 41573818, 41573960, 41573966-41573967, 41573973-41573975, 41574075-41574108, 41574122-41574247, 41574290-41574296, 41574304-41574327, 41574336, 41574361, 41574375-41574406, 41574523-41574524, 41574527, 41574590 |
| 752 | TNFRSF13C | 22 | 0.59459459459459 | 225 | 555 | 42322221-42322335, 42322642-42322707, 42322716-42322759 |
| 753 | CYB5R3 | 22 | 0.97682119205298 | 21 | 906 | 43045301-43045321 |
| 754 | ATXN10 | 22 | 0.93487394957983 | 93 | 1428 | 46067944-46067984, 46068002-46068040, 46068047-46068059 |
| 755 | TRMU | 22 | 0.98420221169036 | 20 | 1266 | 46731701-46731713, 46731724-46731730 |
| 756 | ALG12 | 22 | 0.97205180640763 | 41 | 1467 | 50297991-50298001, 50298019-50298022, 50303550, 50303628-50303637, 50304177, 50304187-50304189, 50304207-50304208, 50307252, 50307255, 50307260, 50307276-50307281 |
| 757 | MLC1 | 22 | 0.92592592592593 | 84 | 1134 | 50502463-50502510, 50502588-50502622, 50523202 |
| 758 | SCO2 | 22 | 0.98501872659176 | 12 | 801 | 50962683-50962684, 50962689-50962691, 50962752-50962757, 50962764 |
| 759 | TYMP | 22 | 0.59765355417529 | 583 | 1449 | 50964214-50964239, 50964260-50964264, 50964271-50964317, 50964326-50964347, 50964430-50964570, 50964675-50964905, 50965028-50965072, 50965122-50965132, 50965143-50965155, 50965598-50965601, 50965641-50965650, 50968111-50968138 |
| 760 | ARSA | 22 | 0.89304461942257 | 163 | 1524 | 51063657-51063680, 51063751-51063849, 51063874-51063892, 51064086, 51064091-51064097, 51064426, 51064470, 51065358-51065364, 51066151-51066154 |
| 761 | SHANK3 | 22 | 0.67944317315027 | 1681 | 5244 | 51113070-51113132, 51113483-51113489, 51113507-51113533, 51113541, 51113641, 51113647, 51117524-51117531, 51117609, 51133365-51133368, 51135951-51136143, 51143177, 51144523, 51153377-51153395, 51158613-51158617, 51158623, 51158629-51158630, 51158691-51158694, 51158701-51159313, 51159356-51159359, 51159363-51159364, 51159377-51159382, 51159403-51159476, 51159497, 51159500, 51159505-51159507, 51159548, 51159602-51159641, 51159678, 51159752-51159758, 51159773, 51159923-51159933, 51160173-51160180, 51160203-51160249, 51160559-51160564, 51160568, 51160789-51160796, 51169150-51169157, 51169191-51169222, 51169245-51169246, 51169253, 51169257-51169264, 51169285-51169740 |
| 762 | SUMF1 | 3 | 0.99822222222222 | 2 | 1125 | 4508899-4508900 |
| 763 | ITPR1 | 3 | 0.99987704414115 | 1 | 8133 | 4730239 |
| 764 | CAV3 | 3 | 0.94298245614035 | 26 | 456 | 8787512-8787537 |
| 765 | FANCD2 | 3 | 0.98550724637681 | 64 | 4416 | 10085533-10085539, 10088305-10088346, 10091150-10091156, 10114941-10114947, 10123064 |
| 766 | VHL | 3 | 0.93613707165109 | 41 | 642 | 10183712-10183719, 10183808-10183840 |
| 767 | TSEN2 | 3 | 0.99785407725322 | 3 | 1398 | 12544791-12544793 |
| 768 | TMEM43 | 3 | 0.99334995843724 | 8 | 1203 | 14183244-14183248, 14183269-14183270, 14183277 |
| 769 | XPC | 3 | 0.99433227063408 | 16 | 2823 | 14187441-14187452, 14187600-14187603 |
| 770 | COLQ | 3 | 0.98976608187135 | 14 | 1368 | 15497460-15497466, 15563116-15563117, 15563121-15563125 |
| 771 | BTD | 3 | 0.99938725490196 | 1 | 1632 | 15686757 |
| 772 | TGFBR2 | 3 | 0.98201236649803 | 32 | 1779 | 30648416-30648434, 30733013-30733025 |
| 773 | GLB1 | 3 | 0.96312684365782 | 75 | 2034 | 33138503-33138577 |
| 774 | CRTAP | 3 | 0.66086235489221 | 409 | 1206 | 33155571-33155618, 33155628-33155921, 33155933-33155990, 33155997-33156004, 33174112 |
| 775 | MLH1 | 3 | 0.9669749009247 | 75 | 2271 | 37038158, 37067128, 37067136-37067158, 37067168-37067193, 37067339-37067362 |
| 776 | SCN5A | 3 | 0.99779249448124 | 13 | 5889 | 38616802-38616804, 38616821-38616823, 38616918-38616920, 38648191-38648194 |
| 777 | ABHD5 | 3 | 0.9552380952381 | 47 | 1050 | 43732485-43732531 |
| 778 | TMIE | 3 | 0.76252723311547 | 109 | 459 | 46742860-46742941, 46742951-46742965, 46743036, 46743040-46743050 |
| 779 | TMIE | 3 | 0.97452229299363 | 12 | 471 | 46743036, 46743040-46743050 |
| 780 | TREX1 | 3 | 0.95225225225225 | 53 | 1110 | 48507965-48507972, 48508391-48508394, 48508446, 48508457-48508462, 48508535-48508544, 48508778-48508794, 48508799, 48508890-48508895 |
| 781 | COL7A1 | 3 | 0.99660441426146 | 30 | 8835 | 48607346-48607347, 48612917, 48625251, 48625263, 48626783-48626788, 48627065, 48627070-48627071, 48627076-48627080, 48627135-48627139, 48629673, 48629889-48629892, 48632543 |
| 782 | SLC25A20 | 3 | 0.99779249448124 | 2 | 906 | 48929423-48929424 |
| 783 | LAMB2 | 3 | 0.99685010190847 | 17 | 5397 | 49160345, 49160348, 49160358, 49160367-49160369, 49160414, 49162554-49162557, 49162725-49162727, 49162730, 49165960, 49165963 |
| 784 | GNAT1 | 3 | 0.94396961063628 | 59 | 1053 | 50229228-50229231, 50231234-50231244, 50231253-50231258, 50231546-50231550, 50231606-50231619, 50231639-50231654, 50232331, 50232335-50232336 |
| 785 | HYAL1 | 3 | 0.98776758409786 | 16 | 1308 | 50338120, 50338495-50338508, 50339612 |
| 786 | RFT1 | 3 | 0.97416974169742 | 42 | 1626 | 53126056-53126060, 53156420-53156421, 53156427-53156440, 53157773-53157793 |
| 787 | TKT | 3 | 0.94284188034188 | 107 | 1872 | 53289852-53289958 |
| 788 | HESX1 | 3 | 0.99283154121864 | 4 | 558 | 57233943-57233946 |
| 789 | FLNB | 3 | 0.99692662312716 | 24 | 7809 | 57994372-57994378, 57994438-57994444, 58111348, 58116588-58116589, 58116606-58116611, 58134029 |
| 790 | PDHB | 3 | 0.975 | 27 | 1080 | 58419363-58419366, 58419393-58419411, 58419495-58419498 |
| 791 | ATXN7 | 3 | 0.88442565186751 | 328 | 2838 | 63898275-63898599, 63981348, 63982047, 63982050 |
| 792 | MITF | 3 | 0.98336532309661 | 26 | 1563 | 69928327, 69928410-69928433, 69928463 |
| 793 | PROK2 | 3 | 0.87948717948718 | 47 | 390 | 71834127-71834135, 71834154-71834191 |
| 794 | GBE1 | 3 | 0.9995258416311 | 1 | 2109 | 81810608 |
| 795 | CHMP2B | 3 | 0.96884735202492 | 20 | 642 | 87294994-87295011, 87299112-87299113 |
| 796 | ARL13B | 3 | 0.996114996115 | 5 | 1287 | 93762082-93762084, 93769677-93769678 |
| 797 | CPOX | 3 | 0.82124542124542 | 244 | 1365 | 98311842, 98311919, 98311922, 98311930-98311949, 98311957-98311965, 98312044-98312088, 98312101-98312119, 98312142-98312236, 98312249-98312295, 98312318-98312323 |
| 798 | IQCB1 | 3 | 0.99944351697273 | 1 | 1797 | 121514375 |
| 799 | CASR | 3 | 0.97003398208217 | 97 | 3237 | 122002950-122002954, 122002966-122002969, 122003144-122003155, 122003200-122003205, 122003219-122003223, 122003304-122003307, 122003422-122003425, 122003467-122003475, 122003481-122003488, 122003502-122003508, 122003520-122003529, 122003535-122003537, 122003554, 122003599-122003602, 122003606, 122003632-122003644, 122003667 |
| 800 | ACAD9 | 3 | 0.9989281886388 | 2 | 1866 | 128631449-128631450 |
| 801 | GP9 | 3 | 0.84831460674157 | 81 | 534 | 128780842-128780860, 128780866-128780905, 128781006-128781027 |
| 802 | RHO | 3 | 0.99808978032474 | 2 | 1047 | 129251473-129251474 |
| 803 | NPHP3 | 3 | 0.94690708740296 | 212 | 3993 | 132406043-132406048, 132406052, 132406062-132406070, 132435649, 132440829, 132440925, 132440941, 132440944, 132441009-132441199 |
| 804 | PCCB | 3 | 0.99012345679012 | 16 | 1620 | 135969319-135969334 |
| 805 | FOXL2 | 3 | 0.41998231653404 | 656 | 1131 | 138664549, 138664556-138664575, 138664600-138665061, 138665069-138665075, 138665088-138665136, 138665155-138665169, 138665194-138665227, 138665336-138665387, 138665409-138665415, 138665475-138665478, 138665517-138665521 |
| 806 | PLOD2 | 3 | 0.9925340360123 | 17 | 2277 | 145878715-145878724, 145878731-145878737 |
| 807 | IFT80 | 3 | 0.99484536082474 | 12 | 2328 | 160099291-160099301, 160099336 |
| 808 | SLC2A2 | 3 | 0.99873015873016 | 2 | 1575 | 170715693, 170715791 |
| 809 | GHSR | 3 | 0.99727520435967 | 3 | 1101 | 172166080, 172166084-172166085 |
| 810 | SOX2 | 3 | 0.77987421383648 | 210 | 954 | 181430149-181430151, 181430168-181430169, 181430173-181430182, 181430213-181430229, 181430243-181430244, 181430254-181430258, 181430280-181430317, 181430350, 181430356-181430416, 181430425-181430448, 181430469-181430475, 181430690-181430720, 181430826, 181430834, 181430998-181431003, 181431052 |
| 811 | EIF2B5 | 3 | 0.98568790397045 | 31 | 2166 | 183860317-183860323, 183862400-183862414, 183862421-183862429 |
| 812 | ALG3 | 3 | 0.9498861047836 | 66 | 1317 | 183961605, 183961608-183961610, 183961663-183961668, 183962989-183963009, 183966622-183966656 |
| 813 | CLCN2 | 3 | 0.99703374119392 | 8 | 2697 | 184072441-184072446, 184075568, 184075762 |
| 814 | TP63 | 3 | 0.99412628487518 | 12 | 2043 | 189526097, 189526175-189526179, 189526278-189526279, 189526283-189526286 |
| 815 | CLDN16 | 3 | 0.99782135076253 | 2 | 918 | 190126230-190126231 |
| 816 | OPA1 | 3 | 0.999343832021 | 2 | 3048 | 193361841-193361842 |
| 817 | CPN2 | 3 | 0.997557997558 | 4 | 1638 | 194061869-194061872 |
| 818 | PDE6B | 4 | 0.97153996101365 | 73 | 2565 | 619416-619418, 619427-619431, 619437, 619515-619518, 619524-619525, 619532-619538, 619543, 619735, 629743-629749, 647916-647919, 647928-647932, 656341-656344, 663846-663874 |
| 819 | IDUA | 4 | 0.66462793068298 | 658 | 1962 | 980873-980961, 980967-981006, 981640, 981671-981678, 981688-981695, 995510-995517, 995904-995906, 995917-995938, 996057-996073, 996218-996251, 996261-996273, 996520-996732, 996824-996945, 997133-997206, 997252, 997354-997358 |
| 820 | FGFR3 | 4 | 0.85084466419448 | 362 | 2427 | 1795662-1795700, 1800987, 1800992, 1800997-1801004, 1801012, 1803173, 1803214-1803221, 1803450-1803456, 1803562-1803567, 1803591-1803592, 1803596-1803601, 1803628-1803632, 1803679-1803686, 1803706-1803752, 1804671-1804708, 1806171, 1806635-1806667, 1808313-1808352, 1808556-1808574, 1808628-1808658, 1808889-1808918, 1808947-1808954, 1808968-1808989 |
| 821 | SH3BP2 | 4 | 0.89283791060851 | 199 | 1857 | 2819951-2820117, 2831537-2831542, 2835484-2835485, 2835497-2835500, 2835510-2835523, 2835526-2835530, 2835538 |
| 822 | HTT | 4 | 0.9670166507583 | 311 | 9429 | 3076553-3076603, 3076604-3076813, 3117106, 3123085-3123086, 3134574, 3149828, 3213791-3213797, 3213803, 3213809-3213813, 3224172-3224175, 3234903, 3234910-3234917, 3234972-3234990 |
| 823 | DOK7 | 4 | 0.82178217821782 | 270 | 1515 | 3465103-3465156, 3465233-3465278, 3475206, 3475223, 3478069-3478098, 3478146-3478150, 3478168-3478169, 3478202, 3487371, 3494551-3494559, 3494585-3494592, 3494600, 3494606-3494616, 3494642-3494668, 3494690-3494691, 3494779-3494787, 3494848-3494852, 3494856-3494857, 3494868-3494886, 3494951-3494957, 3495008-3495015, 3495024-3495034, 3495105-3495114 |
| 824 | DOK7 | 4 | 0.79864636209814 | 119 | 591 | 3494551-3494559, 3494585-3494592, 3494600, 3494606-3494616, 3494642-3494668, 3494690-3494691, 3494779-3494787, 3494848-3494852, 3494856-3494857, 3494868-3494886, 3494951-3494957, 3495008-3495015, 3495024-3495034 |
| 825 | MSX1 | 4 | 0.73355263157895 | 243 | 912 | 4861627-4861848, 4861857-4861866, 4861906-4861909, 4861970, 4864559-4864562, 4864586-4864587 |
| 826 | EVC2 | 4 | 0.97937356760886 | 81 | 3927 | 5578037, 5578047, 5578062-5578128, 5633756-5633759, 5710072, 5710085-5710088, 5710224-5710226 |
| 827 | EVC | 4 | 0.9120510238335 | 262 | 2979 | 5713108-5713271, 5733258, 5755575-5755583, 5755591-5755592, 5755606, 5755632-5755638, 5785455-5785472, 5795409-5795415, 5800383-5800388, 5800441-5800443, 5800455-5800456, 5803725-5803731, 5806545-5806551, 5806558-5806568, 5809975-5809978, 5810002-5810013, 5810038 |
| 828 | WFS1 | 4 | 0.9618406285073 | 102 | 2673 | 6293692-6293699, 6296883, 6302895-6302896, 6302901-6302903, 6302984-6302988, 6302995-6303025, 6303183, 6303192-6303197, 6303262-6303263, 6303267-6303269, 6303361, 6303462-6303468, 6303523, 6303526, 6303770, 6303868-6303896 |
| 829 | SLC2A9 | 4 | 0.98398028342575 | 26 | 1623 | 9909859-9909861, 9922129-9922141, 9982275-9982284 |
| 830 | CC2D2A | 4 | 0.99979436561793 | 1 | 4863 | 15554917 |
| 831 | PROM1 | 4 | 0.99961508852964 | 1 | 2598 | 16034961 |
| 832 | QDPR | 4 | 0.94829931972789 | 38 | 735 | 17513587-17513611, 17513618, 17513622-17513631, 17513676-17513677 |
| 833 | SGCB | 4 | 0.96551724137931 | 33 | 957 | 52904393-52904425 |
| 834 | PDGFRA | 4 | 0.99938837920489 | 2 | 3270 | 55133529, 55133532 |
| 835 | KIT | 4 | 0.98464687819857 | 45 | 2931 | 55524190-55524207, 55524220-55524246 |
| 836 | SLC4A4 | 4 | 0.99786910197869 | 7 | 3285 | 72432780-72432786 |
| 837 | COQ2 | 4 | 0.8995670995671 | 116 | 1155 | 84205705-84205726, 84205739-84205747, 84205762-84205789, 84205802-84205816, 84205838-84205844, 84205880-84205891, 84205896-84205899, 84205907-84205908, 84205921-84205937 |
| 838 | CDS1 | 4 | 0.97907647907648 | 29 | 1386 | 85569741-85569750, 85569760-85569778 |
| 839 | DMP1 | 4 | 0.98393574297189 | 24 | 1494 | 88583994-88583997, 88584238-88584246, 88584299-88584309 |
| 840 | PKD2 | 4 | 0.83660130718954 | 475 | 2907 | 88928886-88929354, 88929405, 88929469-88929470, 88957432, 88957435, 88983127 |
| 841 | MTTP | 4 | 0.9951582867784 | 13 | 2685 | 100515950, 100529982-100529993 |
| 842 | MANBA | 4 | 0.99128787878788 | 23 | 2640 | 103681932, 103681974-103681980, 103681998-103682005, 103682019-103682025 |
| 843 | CISD2 | 4 | 0.91176470588235 | 36 | 408 | 103790276-103790279, 103808512-103808522, 103808565-103808585 |
| 844 | TACR3 | 4 | 0.98497854077253 | 21 | 1398 | 104512693-104512702, 104640740-104640749, 104640783 |
| 845 | CFI | 4 | 0.99714611872146 | 5 | 1752 | 110673633, 110673640, 110723087, 110723095-110723096 |
| 846 | PITX2 | 4 | 0.99076923076923 | 9 | 975 | 111539762, 111539766-111539769, 111542421-111542424 |
| 847 | ANK2 | 4 | 0.99839986525181 | 19 | 11874 | 114117566-114117567, 114213593-114213601, 114213608-114213610, 114253201, 114253208, 114253213-114253215 |
| 848 | BBS7 | 4 | 0.99674115456238 | 7 | 2148 | 122754522-122754528 |
| 849 | NR3C2 | 4 | 0.99966159052453 | 1 | 2955 | 149357434 |
| 850 | LRAT | 4 | 0.99278499278499 | 5 | 693 | 155665891, 155665903-155665904, 155665920-155665921 |
| 851 | CTSO | 4 | 0.851966873706 | 143 | 966 | 156863536-156863608, 156874874-156874875, 156874880-156874893, 156874946-156874999 |
| 852 | GLRB | 4 | 0.97255689424364 | 41 | 1494 | 158041708-158041748 |
| 853 | ETFDH | 4 | 0.99946062567422 | 1 | 1854 | 159618831 |
| 854 | GK | 4 | 0.99518652226233 | 8 | 1662 | 166199361, 166199512-166199518 |
| 855 | SLC25A4 | 4 | 0.87513935340022 | 112 | 897 | 186064527-186064637, 186066322 |
| 856 | SDHA | 5 | 0.88020050125313 | 239 | 1995 | 218471-218525, 218531-218533, 223682-223683, 224475, 224630-224636, 225589-225596, 231111, 236646-236653, 251107-251114, 251173-251218, 251466-251472, 251500-251544, 254526-254532, 254546-254577, 254596-254602, 256472, 256509 |
| 857 | SLC6A19 | 5 | 0.98057742782152 | 37 | 1905 | 1201853-1201859, 1201910-1201913, 1208945, 1208950, 1208991-1209001, 1213578-1213590 |
| 858 | TERT | 5 | 0.83553986466608 | 559 | 3399 | 1253926, 1253929, 1279525-1279527, 1280429-1280433, 1293701-1293702, 1293705-1293706, 1293710, 1293745-1293762, 1293768-1293770, 1293781-1293783, 1293786, 1294083-1294105, 1294261-1294270, 1294282-1294283, 1294426-1294429, 1294453-1294489, 1294513-1294520, 1294566-1294781, 1294886-1295104 |
| 859 | SLC6A3 | 5 | 0.96725711218465 | 61 | 1863 | 1414806-1414832, 1414851-1414873, 1422107, 1422118-1422121, 1443137-1443140, 1443243-1443244 |
| 860 | SDHA | 5 | 0.83180428134557 | 55 | 327 | 1589426-1589435, 1593261-1593267, 1594530-1594567 |
| 861 | NDUFS6 | 5 | 0.98133333333333 | 7 | 375 | 1801553-1801559 |
| 862 | MTRR | 5 | 0.99816345270891 | 4 | 2178 | 7869263, 7869289, 7897263-7897264 |
| 863 | CCT5 | 5 | 0.98892988929889 | 18 | 1626 | 10256134-10256136, 10261828-10261842 |
| 864 | DNAH5 | 5 | 0.98443243243243 | 216 | 13875 | 13766110-13766112, 13810188-13810227, 13810300-13810346, 13829643, 13829659-13829660, 13830830-13830840, 13830879-13830884, 13862735-13862744, 13868100-13868101, 13883075, 13894806-13894808, 13916457-13916495, 13916520-13916553, 13919303-13919319 |
| 865 | ANKH | 5 | 0.98309668695064 | 25 | 1479 | 14769218, 14769244, 14769247-14769249, 14871470-14871484, 14871491-14871495 |
| 866 | FAM134B | 5 | 0.82663989290495 | 259 | 1494 | 16475106, 16475111, 16616779-16616852, 16616868-16616913, 16616936-16616940, 16616949-16617080 |
| 867 | AMACR | 5 | 0.88946910356832 | 127 | 1149 | 33998754-33998758, 34007878-34007887, 34007908-34007980, 34007988-34008026 |
| 868 | NIPBL | 5 | 0.99774212715389 | 19 | 8415 | 37048670, 37048676-37048677, 37064971-37064986 |
| 869 | LIFR | 5 | 0.99939283545841 | 2 | 3294 | 38484909, 38484912 |
| 870 | OXCT1 | 5 | 0.99552143314139 | 7 | 1563 | 41853617-41853623 |
| 871 | ITGA2 | 5 | 0.99210377890581 | 28 | 3546 | 52285315-52285342 |
| 872 | ERCC8 | 5 | 0.96809403862301 | 38 | 1191 | 60200664-60200665, 60240771, 60240774-60240775, 60240781-60240784, 60240799-60240827 |
| 873 | SMN2 | 5 | 0.96271186440678 | 33 | 885 | 69362945-69362961, 69372377-69372392 |
| 874 | SMN2 | 5 | 0.98079096045198 | 17 | 885 | 70238369-70238385 |
| 875 | HEXB | 5 | 0.90963494913226 | 151 | 1671 | 73981116-73981162, 73981222-73981294, 73981312-73981328, 73981365-73981371, 73981377-73981383 |
| 876 | AP3B1 | 5 | 0.98934550989346 | 35 | 3285 | 77311240, 77334914, 77458695-77458703, 77458712-77458718, 77523255-77523261, 77563377-77563386 |
| 877 | ARSB | 5 | 0.80524344569288 | 312 | 1602 | 78280760-78281071 |
| 878 | VCAN | 5 | 0.99990187420273 | 1 | 10191 | 82836684 |
| 879 | RASA1 | 5 | 0.9691475826972 | 97 | 3144 | 86564319-86564334, 86564549-86564556, 86564694-86564699, 86564705-86564706, 86564794-86564797, 86669980-86669999, 86670015-86670037, 86670091-86670097, 86670108-86670113, 86670134-86670137, 86685268 |
| 880 | GPR98 | 5 | 0.99793879816077 | 39 | 18921 | 89854713-89854729, 89981757, 90025460, 90025531-90025532, 90025542-90025543, 90074346-90074347, 90098660-90098663, 90261256, 90261267-90261271, 90261285-90261288 |
| 881 | PCSK1 | 5 | 0.99911582670203 | 2 | 2262 | 95733076, 95743999 |
| 882 | WDR36 | 5 | 0.99719887955182 | 8 | 2856 | 110436340-110436342, 110438081-110438082, 110448773-110448774, 110448843 |
| 883 | HSD17B4 | 5 | 0.99909543193125 | 2 | 2211 | 118809626-118809627 |
| 884 | LMNB1 | 5 | 0.93583191368541 | 113 | 1761 | 126113241-126113271, 126113322, 126113325, 126113351-126113358, 126113372, 126113379-126113382, 126113422-126113451, 126113457-126113490, 126141301-126141303 |
| 885 | FBN2 | 5 | 0.98775603615974 | 107 | 8739 | 127614472, 127614502-127614509, 127645004-127645005, 127645687-127645693, 127873043-127873078, 127873107-127873113, 127873123-127873168 |
| 886 | SLC22A5 | 5 | 0.93847072879331 | 103 | 1674 | 131705666-131705695, 131705801-131705848, 131705884-131705894, 131705945-131705953, 131726459, 131726472-131726475 |
| 887 | TGFBI | 5 | 0.98781676413255 | 25 | 2052 | 135364745-135364747, 135364808-135364826, 135364877-135364878, 135394849 |
| 888 | MYOT | 5 | 0.99532398129593 | 7 | 1497 | 137222939-137222945 |
| 889 | SIL1 | 5 | 0.98773448773449 | 17 | 1386 | 138282877-138282878, 138282883-138282894, 138282920-138282921, 138283055 |
| 890 | MATR3 | 5 | 0.99095911949686 | 23 | 2544 | 138651821, 138651829, 138658497-138658515, 138658538-138658539 |
| 891 | DIAPH1 | 5 | 0.98638387012307 | 52 | 3819 | 140896546-140896564, 140953383-140953384, 140953423, 140953517-140953525, 140953545-140953548, 140953574-140953582, 140958114, 140960422-140960428 |
| 892 | POU4F3 | 5 | 0.95378564405113 | 47 | 1017 | 145718785, 145719121-145719123, 145719149-145719163, 145719289-145719308, 145719391, 145719487-145719488, 145719510, 145719517, 145719753, 145719822-145719823 |
| 893 | PPP2R2B | 5 | 0.9542042042042 | 61 | 1332 | 146077598-146077620, 146077638-146077674, 146077691 |
| 894 | ADRB2 | 5 | 0.96457326892109 | 44 | 1242 | 148206450, 148206580-148206596, 148206920-148206927, 148206936-148206939, 148207353-148207354, 148207621-148207632 |
| 895 | SH3TC2 | 5 | 0.99974140160331 | 1 | 3867 | 148406646 |
| 896 | PDE6A | 5 | 0.99651567944251 | 9 | 2583 | 149240496-149240500, 149240507-149240509, 149247672 |
| 897 | SLC26A2 | 5 | 0.98558558558559 | 32 | 2220 | 149357569, 149361145-149361147, 149361172-149361198, 149361262 |
| 898 | TCOF1 | 5 | 0.98875114784206 | 49 | 4356 | 149737368-149737370, 149737386, 149737390, 149737393, 149737397-149737398, 149754520-149754526, 149754976, 149754982, 149755100-149755108, 149755453, 149756107-149756113, 149759146, 149771614-149771626, 149772340 |
| 899 | SGCD | 5 | 0.99310344827586 | 6 | 870 | 156022003-156022004, 156186382-156186385 |
| 900 | ITK | 5 | 0.99624261943103 | 7 | 1863 | 156644912-156644917, 156679651 |
| 901 | NIPAL4 | 5 | 0.98643825838687 | 19 | 1401 | 156887220-156887238 |
| 902 | NKX2-5 | 5 | 0.91282051282051 | 85 | 975 | 172660024-172660029, 172660038-172660044, 172660133-172660140, 172660163-172660197, 172661859-172661866, 172661876, 172661879, 172661894-172661905, 172662013-172662019 |
| 903 | MSX2 | 5 | 0.86318407960199 | 110 | 804 | 174151736-174151792, 174151801-174151804, 174151866-174151907, 174151923-174151929 |
| 904 | NSD1 | 5 | 0.99864046471388 | 11 | 8091 | 176675268, 176721194-176721202, 176721241 |
| 905 | F12 | 5 | 0.9192439862543 | 47 | 582 | 176830278-176830324 |
| 906 | F12 | 5 | 0.97132034632035 | 53 | 1848 | 176830278-176830324, 176830968-176830973 |
| 907 | PROP1 | 5 | 0.99706314243759 | 2 | 681 | 177422839, 177422845 |
| 908 | GRM6 | 5 | 0.79081245254366 | 551 | 2634 | 178413683-178413689, 178415959-178415986, 178416002-178416028, 178416060-178416063, 178416084-178416099, 178421455-178421479, 178421502-178421945 |
| 909 | SQSTM1 | 5 | 0.88133030990174 | 157 | 1323 | 179247937-179247956, 179247979-179247990, 179248009-179248129, 179248138-179248141 |
| 910 | FLT4 | 5 | 0.91959921798631 | 329 | 4092 | 180038336-180038347, 180038360-180038408, 180038457-180038479, 180045822, 180045899-180045917, 180046027-180046028, 180046050-180046093, 180046255-180046261, 180046339, 180046342, 180046344, 180046347, 180046713-180046727, 180046746-180046769, 180047952-180047969, 180048148-180048170, 180051040-180051055, 180055912-180055913, 180056794, 180056798-180056799, 180056813, 180057023-180057029, 180057641, 180076488-180076545 |
| 911 | FOXC1 | 6 | 0.3604091456077 | 1063 | 1662 | 1610726, 1610759-1610761, 1610765-1610769, 1610777, 1610785, 1610792, 1610824-1610907, 1610913-1610922, 1611009-1611049, 1611070-1611117, 1611180-1611224, 1611236, 1611267-1611271, 1611288-1612097, 1612158-1612164 |
| 912 | TUBB2B | 6 | 0.83333333333333 | 223 | 1338 | 3225110-3225130, 3225156-3225160, 3225184-3225222, 3225233-3225246, 3225388-3225416, 3225438-3225444, 3225454-3225499, 3225518-3225525, 3225569-3225575, 3227721-3227767 |
| 913 | DSP | 6 | 0.99570566388115 | 37 | 8616 | 7542175, 7542237-7542243, 7542293-7542300, 7555976-7555977, 7568126-7568139, 7585222-7585223, 7585546-7585548 |
| 914 | TFAP2A | 6 | 0.96803652968037 | 42 | 1314 | 10398775, 10398779-10398780, 10398784, 10398787, 10398808-10398811, 10398819-10398826, 10398831, 10398837, 10398846, 10398851, 10404750-10404759, 10404848, 10410338-10410347 |
| 915 | GCM2 | 6 | 0.99737015121631 | 4 | 1521 | 10877420, 10877426-10877427, 10877431 |
| 916 | DTNBP1 | 6 | 0.9375 | 66 | 1056 | 15533471-15533477, 15533498-15533502, 15533513-15533518, 15533525-15533528, 15627620, 15627623-15627624, 15663060-15663100 |
| 917 | ATXN1 | 6 | 0.90686274509804 | 228 | 2448 | 16327355-16327390, 16327410-16327427, 16327482, 16327487-16327495, 16327503-16327506, 16327524, 16327527, 16327585-16327619, 16327808-16327825, 16327861-16327960, 16328020-16328024 |
| 918 | NHLRC1 | 6 | 0.98063973063973 | 23 | 1188 | 18122399, 18122402-18122403, 18122408, 18122419-18122420, 18122448-18122451, 18122671-18122674, 18122826, 18122830-18122837 |
| 919 | ALDH5A1 | 6 | 0.87128111718276 | 212 | 1647 | 24495261-24495267, 24495334-24495444, 24495450-24495498, 24495511-24495555 |
| 920 | ZFP57 | 6 | 0.99937926753569 | 1 | 1611 | 29641449 |
| 921 | HLA-H | 6 | 0.91866666666667 | 61 | 750 | 29855800-29855802, 29855805, 29855846, 29855849-29855853, 29855856-29855861, 29855996-29856001, 29856368-29856376, 29856397, 29856406, 29856425-29856427, 29856439-29856445, 29856516, 29856531-29856539, 29856546-29856553 |
| 922 | CFB | 6 | 0.99973691133912 | 1 | 3801 | 31911545 |
| 923 | TNXB | 6 | 0.917055469155 | 160 | 1929 | 31976913-31976929, 31977388-31977394, 31977535-31977541, 31977994-31978001, 31978498-31978517, 31979444-31979482, 31979519-31979552, 31979628-31979631, 31979980-31980003 |
| 924 | CYP21A2 | 6 | 0.9133064516129 | 129 | 1488 | 32006200-32006234, 32006249-32006251, 32006314-32006341, 32006921, 32006988, 32008195-32008201, 32008448-32008454, 32008690-32008736 |
| 925 | TNXB | 6 | 0.9886086888208 | 145 | 12729 | 32009648-32009664, 32010123-32010129, 32010728-32010735, 32011079, 32011235, 32012292-32012336, 32012373-32012379, 32025885, 32029203-32029206, 32032627, 32063744, 32063958, 32063962, 32064139-32064142, 32064200, 32064307, 32064388-32064394, 32064508-32064512, 32064517-32064528, 32064535, 32064658-32064673, 32064678-32064680 |
| 926 | HLA-DQA1 | 6 | 0.88541666666667 | 88 | 768 | 32609126, 32609133-32609134, 32609192, 32609195, 32609309-32609335, 32609806, 32609870-32609877, 32609949-32609972, 32609999-32610013, 32610436, 32610492-32610498 |
| 927 | HLA-DQB1 | 6 | 0.32188295165394 | 533 | 786 | 32629133-32629161, 32629170, 32629173, 32629187-32629193, 32629757-32629791, 32629799-32629833, 32629839-32629879, 32629885-32629889, 32629891-32629900, 32629932-32629959, 32632575-32632837, 32634276-32634353 |
| 928 | COL11A2 | 6 | 0.97505277298023 | 130 | 5211 | 33133434, 33135299-33135301, 33138128-33138130, 33138135-33138140, 33139320-33139323, 33139328-33139331, 33140066-33140073, 33140124-33140155, 33140315-33140382, 33159979 |
| 929 | SYNGAP1 | 6 | 0.88492063492063 | 464 | 4032 | 33388042-33388108, 33393575-33393680, 33400007-33400008, 33400011-33400013, 33405614, 33405617, 33409107-33409114, 33409488, 33410916-33410921, 33410969-33410987, 33411174-33411184, 33411439-33411677 |
| 930 | FANCE | 6 | 0.90378646803228 | 155 | 1611 | 35420323-35420431, 35420467-35420472, 35420486-35420522, 35423799-35423800, 35425365 |
| 931 | TULP1 | 6 | 0.99938612645795 | 1 | 1629 | 35473874 |
| 932 | MOCS1 | 6 | 0.99686028257457 | 6 | 1911 | 39874348-39874349, 39874734, 39874737, 39877661-39877662 |
| 933 | PRPH2 | 6 | 0.99423631123919 | 6 | 1041 | 42672171, 42672179-42672183 |
| 934 | PEX6 | 6 | 0.91267414203194 | 257 | 2943 | 42946093-42946101, 42946367, 42946394-42946396, 42946415-42946446, 42946459-42946465, 42946480-42946483, 42946486-42946522, 42946583-42946611, 42946621-42946749, 42946764, 42946767, 42946772-42946775 |
| 935 | CUL7 | 6 | 0.99293702177752 | 36 | 5097 | 43006422-43006430, 43008319-43008327, 43008357-43008370, 43008427-43008428, 43008432, 43016154 |
| 936 | RSPH9 | 6 | 0.94584837545126 | 45 | 831 | 43613016-43613060 |
| 937 | RUNX2 | 6 | 0.85887611749681 | 221 | 1566 | 45390330-45390545, 45390653, 45514859-45514862 |
| 938 | MUT | 6 | 0.99334221038615 | 15 | 2253 | 49403279-49403285, 49412418, 49412422, 49412426-49412427, 49412436, 49419179-49419181 |
| 939 | PKHD1 | 6 | 0.99959100204499 | 5 | 12225 | 51892664, 51923366-51923369 |
| 940 | EYS | 6 | 0.99618441971383 | 36 | 9435 | 64940572-64940576, 65300261, 65301367-65301379, 65301384, 65301783, 65301787, 65303165-65303172, 66204786-66204791 |
| 941 | LMBRD1 | 6 | 0.98582871226124 | 23 | 1623 | 70410717-70410735, 70410761, 70411354, 70411437, 70506769 |
| 942 | RIMS1 | 6 | 0.9492025989368 | 258 | 5079 | 72596737-72596756, 72889379-72889401, 72892047, 72892295-72892388, 72892410-72892447, 72892457-72892460, 72892484-72892526, 72892547, 72892608-72892612, 72892702-72892725, 72892794-72892798 |
| 943 | SLC17A5 | 6 | 0.93346774193548 | 99 | 1488 | 74304833-74304837, 74363516-74363609 |
| 944 | MYO6 | 6 | 0.99740798341109 | 10 | 3858 | 76602258-76602267 |
| 945 | LCA5 | 6 | 0.99952244508118 | 1 | 2094 | 80223048 |
| 946 | NDUFAF4 | 6 | 0.94886363636364 | 27 | 528 | 97338980-97338996, 97339093-97339099, 97339104-97339106 |
| 947 | SIM1 | 6 | 0.99913081269013 | 2 | 2301 | 100896033, 100901643 |
| 948 | PDSS2 | 6 | 0.98583333333333 | 17 | 1200 | 107780249-107780255, 107780267-107780274, 107780299-107780300 |
| 949 | SEC63 | 6 | 0.98028909329829 | 45 | 2283 | 108279125-108279159, 108279175-108279184 |
| 950 | OSTM1 | 6 | 0.8726368159204 | 128 | 1005 | 108395583-108395589, 108395601-108395640, 108395741-108395742, 108395753, 108395759-108395768, 108395775-108395839, 108395848-108395850 |
| 951 | FIG4 | 6 | 0.9996328928047 | 1 | 2724 | 110053886 |
| 952 | WISP3 | 6 | 0.99016979445934 | 11 | 1119 | 112382274-112382283, 112382296 |
| 953 | COL10A1 | 6 | 0.96867351933431 | 64 | 2043 | 116442081-116442082, 116442268, 116442360-116442393, 116442400-116442419, 116442512-116442513, 116443082-116443086 |
| 954 | RSPH4A | 6 | 0.99581589958159 | 9 | 2151 | 116938383-116938384, 116938387-116938393 |
| 955 | GJA1 | 6 | 0.99738903394256 | 3 | 1149 | 121769114-121769116 |
| 956 | LAMA2 | 6 | 0.99540745487557 | 43 | 9363 | 129486784-129486786, 129513964-129513970, 129635875-129635898, 129635918-129635919, 129670495, 129674399-129674404 |
| 957 | ENPP1 | 6 | 0.92584593232541 | 206 | 2778 | 132129176-132129266, 132129292-132129322, 132129368-132129376, 132176146-132176147, 132203485-132203533, 132203564-132203587 |
| 958 | EYA4 | 6 | 0.99739583333333 | 5 | 1920 | 133767859, 133767862, 133769276, 133769304-133769305 |
| 959 | AHI1 | 6 | 0.99972152603732 | 1 | 3591 | 135788747 |
| 960 | PEX7 | 6 | 0.88271604938272 | 114 | 972 | 137143804-137143878, 137143887-137143900, 137143909-137143933 |
| 961 | STX11 | 6 | 0.89583333333333 | 90 | 864 | 144507842-144507870, 144507934-144507941, 144507998-144508013, 144508027, 144508094-144508127, 144508187-144508188 |
| 962 | EPM2A | 6 | 0.72088353413655 | 278 | 996 | 145948820, 146056334-146056610 |
| 963 | IYD | 6 | 0.99885057471264 | 1 | 870 | 150719322 |
| 964 | SYNE1 | 6 | 0.99431689020232 | 150 | 26394 | 152454424-152454425, 152454546-152454547, 152510387-152510397, 152536162, 152545675-152545693, 152545701-152545705, 152545783-152545799, 152553326-152553337, 152558056-152558059, 152560732, 152644730-152644741, 152644815-152644818, 152665264-152665265, 152665276-152665298, 152674793, 152675847-152675859, 152686006-152686016, 152694184-152694188, 152702437, 152737604, 152738058, 152751639-152751640 |
| 965 | PARK2 | 6 | 0.95565092989986 | 62 | 1398 | 161771136-161771171, 161969941-161969942, 161969947-161969955, 162622182, 162683607, 162683679, 162683684-162683692, 162683696, 162683701, 162683704 |
| 966 | TBP | 6 | 0.90196078431373 | 100 | 1020 | 170871010-170871109 |
| 967 | LFNG | 7 | 0.63508771929825 | 416 | 1140 | 2559496-2559796, 2559804-2559860, 2559868-2559907, 2559922, 2564886-2564901, 2565134 |
| 968 | PMS2 | 7 | 0.99382000772499 | 16 | 2589 | 6013150-6013157, 6022622, 6045523-6045529 |
| 969 | TWIST1 | 7 | 0.47947454844007 | 317 | 609 | 19156377, 19156571-19156573, 19156586-19156589, 19156594, 19156637-19156944 |
| 970 | DNAH11 | 7 | 0.99454759799587 | 74 | 13572 | 21582906-21582917, 21582968, 21583186-21583214, 21630919-21630928, 21630982-21630983, 21747399-21747416, 21924013-21924014 |
| 971 | FAM126A | 7 | 0.99489144316731 | 8 | 1566 | 22985579-22985586 |
| 972 | KLHL7 | 7 | 0.99943214082907 | 1 | 1761 | 23213673 |
| 973 | DFNA5 | 7 | 0.96646545942321 | 50 | 1491 | 24742390-24742437, 24745929-24745930 |
| 974 | HOXA1 | 7 | 0.99900793650794 | 1 | 1008 | 27135403 |
| 975 | HOXA13 | 7 | 0.573264781491 | 498 | 1167 | 27239083-27239106, 27239198, 27239201, 27239220-27239240, 27239246-27239696 |
| 976 | GARS | 7 | 0.97882882882883 | 47 | 2220 | 30634661-30634662, 30634679-30634723 |
| 977 | GHRHR | 7 | 0.9937106918239 | 8 | 1272 | 31008449-31008453, 31008515-31008517 |
| 978 | RP9 | 7 | 0.77027027027027 | 153 | 666 | 33134998, 33148833-33148984 |
| 979 | BBS9 | 7 | 0.9984984984985 | 4 | 2664 | 33185965, 33397511, 33545139-33545140 |
| 980 | GLI3 | 7 | 0.90997259118701 | 427 | 4743 | 42004595-42004597, 42004642-42004653, 42004676-42004700, 42004980-42004998, 42005061-42005074, 42005119-42005123, 42005227-42005234, 42005240-42005245, 42005250, 42005256-42005259, 42005267-42005274, 42005325-42005338, 42005408-42005414, 42005508-42005513, 42005564-42005697, 42005763-42005800, 42005810-42005816, 42005950-42005961, 42005983-42006027, 42006044-42006093, 42012144, 42064937-42064944 |
| 981 | GCK | 7 | 0.97930049964311 | 29 | 1401 | 44184852, 44184858, 44186116-44186120, 44186126-44186135, 44186146-44186149, 44186157-44186164 |
| 982 | CCM2 | 7 | 0.96554307116105 | 46 | 1335 | 45039933-45039962, 45104117, 45115454-45115456, 45115463-45115473, 45115480 |
| 983 | DDC | 7 | 0.98891198891199 | 16 | 1443 | 50596997, 50597002-50597015, 50597028 |
| 984 | GRB10 | 7 | 0.99943977591036 | 1 | 1785 | 50685792 |
| 985 | EGFR | 7 | 0.96751995595926 | 118 | 3633 | 55086971-55087058, 55220277-55220289, 55229254-55229255, 55229260, 55259502-55259509, 55273201-55273202, 55273208, 55273233-55273235 |
| 986 | GUSB | 7 | 0.9959100204499 | 8 | 1956 | 65439662-65439669 |
| 987 | ASL | 7 | 0.96989247311828 | 42 | 1395 | 65551628, 65551764-65551765, 65553882-65553883, 65554126-65554162 |
| 988 | KCTD7 | 7 | 0.80804597701149 | 167 | 870 | 66094052-66094195, 66103887-66103891, 66104120-66104123, 66104129-66104138, 66104143-66104146 |
| 989 | SBDS | 7 | 0.99070385126162 | 7 | 753 | 66456158-66456164 |
| 990 | NCF1 | 7 | 0.96727272727273 | 27 | 825 | 72639986, 72640033-72640039, 72644230-72644236, 72645924-72645930, 72648744-72648748 |
| 991 | ELN | 7 | 0.94804597701149 | 113 | 2175 | 73442530-73442596, 73466262-73466307 |
| 992 | NCF1 | 7 | 0.83375959079284 | 195 | 1173 | 74193639-74193671, 74202416, 74202424-74202431, 74202903-74202950, 74202961-74202994, 74203001-74203048, 74203383-74203395, 74203410-74203419 |
| 993 | POR | 7 | 0.97307880567792 | 55 | 2043 | 75583467, 75614242-75614248, 75614467-75614485, 75614505-75614525, 75615027-75615033 |
| 994 | HSPB1 | 7 | 0.88187702265372 | 73 | 618 | 75932232, 75932261-75932295, 75932302-75932332, 75932349-75932354 |
| 995 | CD36 | 7 | 0.98942917547569 | 15 | 1419 | 80285889-80285890, 80285933, 80285936, 80285941-80285942, 80285953-80285961 |
| 996 | HGF | 7 | 0.97988111568358 | 44 | 2187 | 81399244-81399287 |
| 997 | ABCB4 | 7 | 0.99427083333333 | 22 | 3840 | 87031468-87031479, 87104772-87104781 |
| 998 | AKAP9 | 7 | 0.99931763903105 | 8 | 11724 | 91631265-91631266, 91714837-91714838, 91732076, 91732084, 91732093-91732094 |
| 999 | KRIT1 | 7 | 0.99412030755314 | 13 | 2211 | 91852182-91852194 |
| 1000 | PEX1 | 7 | 0.99974039460021 | 1 | 3852 | 92140312 |
| 1001 | COL1A2 | 7 | 0.96537429895148 | 142 | 4101 | 94030912-94030920, 94049550-94049553, 94049957-94049960, 94051244-94051264, 94052377-94052387, 94055089, 94055109-94055116, 94055310-94055328, 94056320-94056325, 94056500-94056501, 94056515-94056528, 94056559-94056601 |
| 1002 | SGCE | 7 | 0.98967551622419 | 14 | 1356 | 94259031-94259044 |
| 1003 | SLC25A13 | 7 | 0.97685869030034 | 47 | 2031 | 95750995-95750996, 95751294-95751300, 95751307-95751309, 95799357-95799360, 95799364-95799368, 95800784-95800793, 95800818-95800820, 95813606, 95813746, 95820434-95820440, 95951255-95951258 |
| 1004 | TFR2 | 7 | 0.9667497921862 | 80 | 2406 | 100218641, 100218648-100218659, 100224954-100224958, 100225008, 100225012-100225020, 100225383, 100229705-100229706, 100230676-100230711, 100238642-100238646, 100238654-100238661 |
| 1005 | SERPINE1 | 7 | 0.98180314309347 | 22 | 1209 | 100771812-100771828, 100771833-100771837 |
| 1006 | RELN | 7 | 0.99354341331791 | 67 | 10377 | 103136277, 103236970-103236976, 103244867-103244907, 103629725-103629742 |
| 1007 | SLC26A4 | 7 | 0.98548868971404 | 34 | 2343 | 107302106-107302111, 107302192, 107314721, 107314731-107314734, 107314738, 107315454, 107323647-107323666 |
| 1008 | SLC26A3 | 7 | 0.99912854030501 | 2 | 2295 | 107430063, 107432380 |
| 1009 | IFRD1 | 7 | 0.92920353982301 | 96 | 1356 | 112090790-112090802, 112090809-112090810, 112090817-112090822, 112101968-112101971, 112102134-112102163, 112102184-112102224 |
| 1010 | CFTR | 7 | 0.97996848975917 | 89 | 4443 | 117144338, 117144361-117144363, 117188716-117188722, 117188733-117188766, 117188794-117188800, 117188847-117188877, 117232276, 117235044-117235047, 117251718 |
| 1011 | AASS | 7 | 0.98741459906508 | 35 | 2781 | 121732932-121732964, 121732966, 121753676 |
| 1012 | IMPDH1 | 7 | 0.88166666666667 | 213 | 1800 | 128045833-128045873, 128045886-128045919, 128049818-128049955 |
| 1013 | FLNC | 7 | 0.98361457569088 | 134 | 8178 | 128470692-128470699, 128470708-128470763, 128470845-128470850, 128470909-128470919, 128477278-128477311, 128477456-128477465, 128482421, 128482853-128482854, 128486045-128486048, 128490438-128490439 |
| 1014 | ATP6V0A4 | 7 | 0.98969480776853 | 26 | 2523 | 138437531-138437556 |
| 1015 | BRAF | 7 | 0.98783137766189 | 28 | 2301 | 140624400-140624427 |
| 1016 | PRSS1 | 7 | 0.96639784946237 | 25 | 744 | 142458434-142458454, 142459832, 142459839-142459841 |
| 1017 | CLCN1 | 7 | 0.98786653185035 | 36 | 2967 | 143042688-143042702, 143047472-143047492 |
| 1018 | CNTNAP2 | 7 | 0.99449449449449 | 22 | 3996 | 145813980-145813991, 145813997, 145814040, 145814062, 146997234-146997237, 147914396-147914398 |
| 1019 | KCNH2 | 7 | 0.70373563218391 | 1031 | 3480 | 150644036-150644046, 150644090-150644109, 150644416-150644431, 150644444-150644482, 150644533-150644582, 150644591-150644602, 150644710-150644787, 150644798-150644831, 150644841-150644850, 150644864, 150644870-150644883, 150645588-150645591, 150646028-150646033, 150646099, 150648683-150648709, 150648713-150648717, 150648720-150648731, 150648780-150648789, 150648818-150648821, 150648827, 150648835-150648846, 150648871-150648875, 150648881-150648883, 150648887-150648888, 150648892, 150649715-150649723, 150654542-150654544, 150655150-150655175, 150655209-150655553, 150671799, 150671812, 150671838-150672029, 150674926-150675001 |
| 1020 | PRKAG2 | 7 | 0.95906432748538 | 70 | 1710 | 151329155-151329224 |
| 1021 | SHH | 7 | 0.62419006479482 | 522 | 1389 | 155595594-155596055, 155596087-155596090, 155596097-155596140, 155596197-155596208 |
| 1022 | MNX1 | 7 | 0.3698175787728 | 760 | 1206 | 156798214-156798277, 156798288-156798417, 156798425-156798473, 156798486-156798490, 156798552-156798567, 156799265-156799278, 156802452-156802458, 156802506, 156802511-156802525, 156802535-156802547, 156802567-156802571, 156802582-156803022 |
| 1023 | CLN8 | 8 | 0.99419279907085 | 5 | 861 | 1719517, 1728706-1728709 |
| 1024 | MCPH1 | 8 | 0.9804625199362 | 49 | 2508 | 6264189-6264210, 6299630-6299636, 6478982-6479000, 6479067 |
| 1025 | GATA4 | 8 | 0.5974416854778 | 535 | 1329 | 11565822-11565828, 11565840-11565923, 11565987-11566365, 11566387-11566395, 11566403-11566422, 11614466-11614496, 11614525, 11614543-11614546 |
| 1026 | TUSC3 | 8 | 0.94364851957975 | 59 | 1047 | 15397971-15398008, 15398023-15398043 |
| 1027 | ASAH1 | 8 | 0.98905723905724 | 13 | 1188 | 17941518-17941530 |
| 1028 | SFTPC | 8 | 0.92929292929293 | 42 | 594 | 22021047-22021059, 22021417-22021438, 22021486, 22021497-22021502 |
| 1029 | NEFL | 8 | 0.89276960784314 | 175 | 1632 | 24813140-24813143, 24813156-24813161, 24813404-24813436, 24813482-24813504, 24813583-24813617, 24813641-24813670, 24813688-24813703, 24813914-24813941 |
| 1030 | CHRNA2 | 8 | 0.99182389937107 | 13 | 1590 | 27320607, 27320623, 27320838-27320839, 27320851, 27320861-27320865, 27320911, 27321487, 27327422 |
| 1031 | FGFR1 | 8 | 0.99512789281364 | 12 | 2463 | 38273510-38273520, 38287406 |
| 1032 | ANK1 | 8 | 0.96961714085002 | 173 | 5694 | 41530249-41530261, 41530266, 41554002, 41554007-41554008, 41554014, 41561988, 41581084-41581107, 41583450-41583453, 41753873-41753998 |
| 1033 | HGSNAT | 8 | 0.93815513626834 | 118 | 1908 | 42995640-42995757 |
| 1034 | RP1 | 8 | 0.99799103693401 | 13 | 6471 | 55533940, 55540181, 55541792-55541802 |
| 1035 | CHD7 | 8 | 0.98810317989771 | 107 | 8994 | 61654424-61654426, 61654481-61654518, 61654559, 61654597-61654604, 61654696, 61654699, 61654706, 61654720, 61654725-61654726, 61654737-61654740, 61654827-61654843, 61655555, 61713080-61713084, 61734381, 61777849-61777853, 61777952-61777954, 61778176, 61778228-61778234, 61778264-61778267, 61778277, 61778281, 61778293 |
| 1036 | TTPA | 8 | 0.7921146953405 | 174 | 837 | 63973971, 63998408-63998580 |
| 1037 | CYP7B1 | 8 | 0.94806048652203 | 79 | 1521 | 65711052-65711109, 65711117-65711137 |
| 1038 | EYA1 | 8 | 0.9769533445756 | 41 | 1779 | 72211324-72211364 |
| 1039 | TMEM70 | 8 | 0.94252873563218 | 45 | 783 | 74888517-74888561 |
| 1040 | CA2 | 8 | 0.95657726692209 | 34 | 783 | 86376311-86376344 |
| 1041 | NBN | 8 | 0.99955849889625 | 1 | 2265 | 90967515 |
| 1042 | TMEM67 | 8 | 0.98995983935743 | 30 | 2988 | 94777673-94777696, 94777858, 94777861, 94777867-94777869, 94777874 |
| 1043 | GDF6 | 8 | 0.6140350877193 | 528 | 1368 | 97156996, 97157141-97157176, 97157194-97157336, 97157342-97157400, 97157407-97157572, 97157632-97157667, 97157684, 97172758, 97172779-97172784, 97172791-97172798, 97172803-97172809, 97172817-97172828, 97172869-97172920 |
| 1044 | VPS13B | 8 | 0.99724862431216 | 33 | 11994 | 100108627-100108628, 100168919-100168920, 100587942-100587943, 100733103, 100874106-100874110, 100874115, 100874121-100874136, 100880612-100880613, 100883733-100883734 |
| 1045 | RRM2B | 8 | 0.99810606060606 | 2 | 1056 | 103231056-103231057 |
| 1046 | DPYS | 8 | 0.8474358974359 | 238 | 1560 | 105478885, 105478903-105479122, 105479128-105479144 |
| 1047 | TRPS1 | 8 | 0.9971685971686 | 11 | 3885 | 116599285-116599286, 116599383, 116599386, 116599794-116599800 |
| 1048 | EXT1 | 8 | 0.99955377063811 | 1 | 2241 | 118842551 |
| 1049 | TNFRSF11B | 8 | 0.99336650082919 | 8 | 1206 | 119964032, 119964037-119964043 |
| 1050 | KIAA0196 | 8 | 0.99798850574713 | 7 | 3480 | 126091166-126091172 |
| 1051 | KCNQ3 | 8 | 0.92478045055365 | 197 | 2619 | 133492400-133492406, 133492535-133492536, 133492550-133492623, 133492633-133492680, 133492714-133492779 |
| 1052 | TG | 8 | 0.99843505477308 | 13 | 8307 | 133882017-133882020, 133883788-133883790, 134031847, 134034272, 134034323-134034326 |
| 1053 | NDRG1 | 8 | 0.96877637130802 | 37 | 1185 | 134251278-134251283, 134274290-134274320 |
| 1054 | SLURP1 | 8 | 0.99358974358974 | 2 | 312 | 143822685-143822686 |
| 1055 | CYP11B1 | 8 | 0.98346560846561 | 25 | 1512 | 143956415-143956421, 143956533-143956542, 143957225, 143958596-143958602 |
| 1056 | CYP11B2 | 8 | 0.91402116402116 | 130 | 1512 | 143993946-143993999, 143994026-143994032, 143994060-143994081, 143994223, 143994242-143994282, 143994701-143994705 |
| 1057 | PLEC | 8 | 0.72216293134116 | 3905 | 14055 | 144990387-144990427, 144990454-144990467, 144990493-144990516, 144990598-144990604, 144990726-144990746, 144990751-144990754, 144990800-144990804, 144990829-144990847, 144990857-144990866, 144990920-144990926, 144991045-144991050, 144991391, 144991725-144991726, 144991879-144991904, 144991974-144992005, 144992038-144992086, 144992175, 144992178-144992179, 144992183, 144992186, 144992192, 144992245, 144992249-144992256, 144992354-144992359, 144992380-144992421, 144992536-144992551, 144992683-144992732, 144992789-144992818, 144992857-144992861, 144992946-144992950, 144992955, 144992984-144992995, 144993046-144993073, 144993239-144993245, 144993323-144993325, 144993363-144993401, 144993485-144993516, 144993596-144993634, 144993663-144993686, 144993708-144993793, 144993813-144993838, 144993847-144993862, 144993919-144993970, 144994018-144994038, 144994094, 144994097, 144994186-144994192, 144994198, 144994209-144994216, 144994306-144994321, 144994358-144994406, 144994573-144994621, 144994695-144994701, 144994705, 144994718, 144994725, 144994732, 144994775-144994779, 144994957-144994978, 144995002-144995009, 144995019-144995070, 144995104, 144995158-144995179, 144995264-144995274, 144995281, 144995286-144995287, 144995361-144995392, 144995441-144995474, 144995534, 144995540, 144995582-144995586, 144995604-144995642, 144995653, 144995664-144995667, 144995679-144995723, 144995736-144995744, 144995790-144995839, 144995845-144995860, 144995894-144995943, 144995954-144995958, 144995964, 144996062-144996084, 144996108-144996119, 144996188-144996228, 144996239-144996282, 144996322-144996337, 144996348-144996395, 144996495-144996501, 144996509-144996563, 144996692-144996711, 144996741-144996748, 144996949-144996959, 144996977-144996982, 144996998-144997010, 144997026-144997030, 144997070-144997110, 144997121, 144997208-144997218, 144997256-144997260, 144997414-144997420, 144997431-144997471, 144997479-144997518, 144997549, 144997611, 144997687-144997692, 144997698-144997709, 144997724-144997734, 144997744-144997751, 144997777-144997809, 144997825-144997897, 144997910-144997938, 144997958-144997996, 144998093-144998116, 144998170-144998198, 144998207-144998241, 144998282-144998287, 144998343-144998358, 144998365-144998399, 144998422-144998449, 144998469-144998476, 144998491-144998495, 144998504-144998510, 144998563-144998594, 144998679-144998734, 144998760-144998771, 144998782, 144998786-144998789, 144998808-144998989, 144999026-144999091, 144999108-144999148, 144999154-144999201, 144999208-144999467, 144999505-144999544, 144999550-144999558, 144999564-144999585, 144999602-144999626, 144999656-144999719, 144999732-144999775, 144999801-144999807, 144999831-144999889, 144999908-144999917, 144999923-144999924, 144999975-145000052, 145001603-145001607, 145001611, 145001617-145001625, 145001654-145001687, 145001701-145001758, 145001790-145001793, 145001837-145001843, 145001886-145001889, 145001928-145001933, 145003291-145003301, 145003313-145003359, 145003380-145003405, 145003582-145003587, 145003596-145003599, 145003659-145003664, 145003676, 145003679-145003682, 145003712-145003718, 145003814-145003840, 145003950-145003952, 145004197-145004228, 145004321-145004329, 145004335-145004337, 145004347-145004354, 145004362-145004363, 145004379-145004402, 145004415-145004422, 145004437-145004448, 145005793-145005805, 145006119, 145006137-145006176, 145006182-145006200, 145006298-145006323, 145006340-145006341, 145006345-145006349, 145006353, 145006666-145006683, 145006803-145006822, 145007030-145007034, 145007103-145007138, 145007392, 145008166-145008170, 145008206-145008210, 145008214-145008218, 145009077-145009083, 145009090-145009093, 145010052, 145010056-145010065, 145010182, 145024480-145024485 |
| 1058 | GPT | 8 | 0.69282360831657 | 458 | 1491 | 145730631-145730654, 145730662-145730666, 145730719-145730727, 145730733-145730743, 145730749-145730800, 145730811-145730818, 145731240-145731261, 145731269-145731310, 145731378-145731410, 145731423-145731426, 145731435-145731473, 145731480-145731485, 145731495-145731502, 145731615, 145731656-145731740, 145731781-145731789, 145731884-145731929, 145731959-145731969, 145731990-145732032 |
| 1059 | RECQL4 | 8 | 0.89330024813896 | 387 | 3627 | 145736814-145736826, 145737090, 145737910, 145738380, 145738391-145738401, 145738435-145738437, 145738654, 145738658-145738659, 145738726-145738768, 145738770-145738780, 145738810-145738838, 145738955-145738962, 145738996-145739004, 145739073-145739086, 145740351-145740363, 145740373-145740375, 145741661-145741662, 145742011-145742013, 145742108-145742114, 145742494-145742497, 145742501, 145742801-145742892, 145742989-145743019, 145743085-145743168 |
| 1060 | DOCK8 | 9 | 0.97333333333333 | 168 | 6300 | 214977-215029, 336638, 407006-407052, 429798-429805, 452026-452084 |
| 1061 | VLDLR | 9 | 0.97711670480549 | 60 | 2622 | 2622211-2622261, 2643385-2643388, 2651919-2651920, 2652880, 2652940-2652941 |
| 1062 | KCNV2 | 9 | 0.8040293040293 | 321 | 1638 | 2717964-2717977, 2718014-2718046, 2718074-2718077, 2718109-2718141, 2718189, 2718193, 2718197, 2718242-2718282, 2718327-2718332, 2718370-2718376, 2718390-2718522, 2718563-2718567, 2718575-2718580, 2718604-2718609, 2718631, 2718737, 2718750, 2718762-2718771, 2718937-2718940, 2718951-2718952, 2718954, 2718959-2718968 |
| 1063 | GLIS3 | 9 | 0.93949158610813 | 169 | 2793 | 4117854-4117855, 4117922-4117929, 4117980-4117987, 4118003-4118118, 4118198, 4118309-4118342 |
| 1064 | SLC1A1 | 9 | 0.99492063492063 | 8 | 1575 | 4490748-4490752, 4490769-4490770, 4583071 |
| 1065 | JAK2 | 9 | 0.9997057958223 | 1 | 3399 | 5077479 |
| 1066 | GLDC | 9 | 0.96506692784851 | 107 | 3063 | 6604654-6604660, 6645344-6645364, 6645374-6645384, 6645432-6645499 |
| 1067 | TYRP1 | 9 | 0.99938042131351 | 1 | 1614 | 12694219 |
| 1068 | CDKN2A | 9 | 0.93205944798301 | 32 | 471 | 21971156-21971162, 21971183-21971207 |
| 1069 | CDKN2A | 9 | 0.87931034482759 | 63 | 522 | 21971156-21971162, 21971183-21971207, 21994206-21994214, 21994223-21994228, 21994288-21994294, 21994299-21994302, 21994333-21994337 |
| 1070 | TOPORS | 9 | 0.99840662842575 | 5 | 3138 | 32550955-32550959 |
| 1071 | APTX | 9 | 0.99514091350826 | 5 | 1029 | 32973553-32973556, 32973559 |
| 1072 | B4GALT1 | 9 | 0.95739348370927 | 51 | 1197 | 33166890-33166893, 33166897, 33166902-33166919, 33167103-33167126, 33167137-33167140 |
| 1073 | DNAI1 | 9 | 0.99952380952381 | 1 | 2100 | 34500765 |
| 1074 | GALT | 9 | 0.99385964912281 | 7 | 1140 | 34646705, 34646759-34646764 |
| 1075 | VCP | 9 | 0.99876084262701 | 3 | 2421 | 35072348-35072350 |
| 1076 | TPM2 | 9 | 0.99766081871345 | 2 | 855 | 35682101-35682102 |
| 1077 | NPR2 | 9 | 0.96851145038168 | 99 | 3144 | 35792406-35792411, 35792427-35792440, 35792453-35792459, 35792464-35792467, 35792478-35792488, 35792494, 35792535-35792572, 35792584-35792598, 35792700-35792702 |
| 1078 | GNE | 9 | 0.99911582670203 | 2 | 2262 | 36217456, 36223384 |
| 1079 | GRHPR | 9 | 0.99594731509625 | 4 | 987 | 37424876-37424878, 37424882 |
| 1080 | FXN | 9 | 0.826224328594 | 110 | 633 | 71650709-71650711, 71650731-71650759, 71650780-71650795, 71650803-71650863, 71668117 |
| 1081 | TMC1 | 9 | 0.99780989925537 | 5 | 2283 | 75403305-75403306, 75403313-75403314, 75407218 |
| 1082 | VPS13A | 9 | 0.99370078740157 | 60 | 9525 | 79841442, 79908408-79908424, 79931121-79931138, 79931218-79931235, 79932557-79932561, 79996925 |
| 1083 | AUH | 9 | 0.98137254901961 | 19 | 1020 | 93983165-93983166, 94124155-94124171 |
| 1084 | ROR2 | 9 | 0.94703389830508 | 150 | 2832 | 94486012-94486027, 94486175-94486182, 94486999-94487005, 94487010, 94487019, 94487068-94487072, 94495421, 94495556, 94495582-94495587, 94495592-94495619, 94495623-94495627, 94495693, 94712171-94712187, 94712193-94712245 |
| 1085 | FBP1 | 9 | 0.992133726647 | 8 | 1017 | 97401565-97401572 |
| 1086 | PTCH1 | 9 | 0.93186003683241 | 296 | 4344 | 98209550-98209551, 98209610, 98209621-98209639, 98211381-98211383, 98211415-98211426, 98211431-98211434, 98211492, 98231208, 98239918-98239922, 98268689-98268765, 98268771-98268791, 98268843, 98268848-98268854, 98268880-98268881, 98270443-98270466, 98270468-98270471, 98270476, 98270504-98270539, 98270550-98270563, 98270583-98270643 |
| 1087 | FOXE1 | 9 | 0.15508021390374 | 948 | 1122 | 100616197-100616989, 100616995-100617098, 100617114-100617151, 100617194-100617202, 100617237-100617238, 100617243-100617244 |
| 1088 | TGFBR1 | 9 | 0.93584656084656 | 97 | 1512 | 101867488-101867584 |
| 1089 | INVS | 9 | 0.99687304565353 | 10 | 3198 | 102866881-102866882, 102866889-102866891, 102866903, 103046727-103046729, 103055301 |
| 1090 | ABCA1 | 9 | 0.99646330680813 | 24 | 6786 | 107556790-107556791, 107645419-107645420, 107665939-107665958 |
| 1091 | FKTN | 9 | 0.9992784992785 | 1 | 1386 | 108363430 |
| 1092 | IKBKAP | 9 | 0.99974993748437 | 1 | 3999 | 111668678 |
| 1093 | DFNB31 | 9 | 0.8931718061674 | 291 | 2724 | 117168990, 117186739-117186747, 117228615-117228621, 117240869-117240875, 117240879-117240885, 117240937-117240957, 117266700-117266705, 117266811-117266827, 117266846-117267015, 117267026-117267041, 117267052-117267081 |
| 1094 | TRIM32 | 9 | 0.99694189602446 | 6 | 1962 | 119460035-119460036, 119460061, 119460064, 119460118, 119460400 |
| 1095 | CDK5RAP2 | 9 | 0.99665610700458 | 19 | 5682 | 123171419-123171433, 123199722, 123201832-123201834 |
| 1096 | GSN | 9 | 0.980417198808 | 46 | 2349 | 124062178-124062181, 124062190-124062231 |
| 1097 | NR5A1 | 9 | 0.91847041847042 | 113 | 1386 | 127245159-127245175, 127253498-127253507, 127265401-127265429, 127265487-127265499, 127265573-127265593, 127265607-127265615, 127265621-127265634 |
| 1098 | LMX1B | 9 | 0.71939231456658 | 314 | 1119 | 129376798, 129376832-129376839, 129377662-129377848, 129453195-129453213, 129453250, 129455521-129455524, 129455572-129455582, 129455592-129455602, 129455803-129455821, 129455845-129455851, 129456052-129456082, 129458118-129458122, 129458129-129458136, 129458210, 129458213 |
| 1099 | STXBP1 | 9 | 0.97350993377483 | 48 | 1812 | 130374683-130374719, 130425503, 130425506, 130425599-130425601, 130425610-130425615 |
| 1100 | ENG | 9 | 0.94688922610015 | 105 | 1977 | 130580547, 130580550, 130587171, 130587560, 130587563, 130587625-130587631, 130588013-130588016, 130588028-130588032, 130588057-130588112, 130616580-130616607 |
| 1101 | GLE1 | 9 | 0.98283261802575 | 36 | 2097 | 131267100-131267106, 131267142-131267169, 131286044 |
| 1102 | DOLK | 9 | 0.97402597402597 | 42 | 1617 | 131709004-131709011, 131709029-131709030, 131709383-131709388, 131709478-131709503 |
| 1103 | TOR1A | 9 | 0.88688688688689 | 113 | 999 | 132586187-132586241, 132586263-132586300, 132586323-132586327, 132586332-132586334, 132586338-132586346, 132586352-132586354 |
| 1104 | POMT1 | 9 | 0.97061524334252 | 64 | 2178 | 134394779, 134394783-134394787, 134394796-134394838, 134396796-134396802, 134398337-134398344 |
| 1105 | SETX | 9 | 0.9932785660941 | 54 | 8034 | 135139867-135139918, 135173577-135173578 |
| 1106 | TTF1 | 9 | 0.99595290654893 | 11 | 2718 | 135251355, 135263555-135263563, 135273617 |
| 1107 | TSC1 | 9 | 0.98798283261803 | 42 | 3495 | 135771997-135772002, 135772051-135772054, 135772660-135772661, 135772843-135772848, 135772856-135772878, 135779108 |
| 1108 | CEL | 9 | 0.79744605900484 | 460 | 2271 | 135937435-135937438, 135937453-135937455, 135944521-135944527, 135944554-135944589, 135946482-135946489, 135946558-135946578, 135946587, 135946640-135947008, 135947018-135947024, 135947080-135947083 |
| 1109 | SURF1 | 9 | 0.91029900332226 | 81 | 903 | 136223124-136223143, 136223165-136223171, 136223276-136223329 |
| 1110 | ADAMTS13 | 9 | 0.93814192343604 | 265 | 4284 | 136289483-136289488, 136293754-136293891, 136295059-136295117, 136295170-136295178, 136301979, 136307853-136307855, 136308638-136308639, 136321741-136321747, 136321762-136321765, 136321786-136321821 |
| 1111 | DBH | 9 | 0.9848975188781 | 28 | 1854 | 136501511, 136504988-136504989, 136516767-136516773, 136521724-136521726, 136521730, 136522249-136522254, 136522261-136522264, 136522278-136522281 |
| 1112 | SARDH | 9 | 0.97062023939064 | 81 | 2757 | 136535732-136535743, 136582554, 136597566-136597568, 136597606-136597631, 136597675-136597696, 136599201, 136599207, 136599280-136599294 |
| 1113 | COL5A1 | 9 | 0.97389885807504 | 144 | 5517 | 137534034-137534142, 137623357, 137623504-137623509, 137693826-137693838, 137705851-137705859, 137717727, 137726966-137726970 |
| 1114 | LHX3 | 9 | 0.77088502894955 | 277 | 1209 | 139089276-139089282, 139089302-139089331, 139089338-139089344, 139089354-139089359, 139089556-139089571, 139090563, 139090651-139090666, 139090755-139090905, 139091531-139091536, 139094792-139094793, 139094819-139094822, 139094827-139094848, 139094859-139094860, 139094863-139094866, 139094883-139094885 |
| 1115 | INPP5E | 9 | 0.75658914728682 | 471 | 1935 | 139324241-139324247, 139326351-139326379, 139326994-139327002, 139327008-139327014, 139327028, 139333072, 139333136-139333210, 139333225-139333228, 139333301-139333359, 139333445-139333485, 139333492-139333534, 139333541-139333544, 139333625-139333638, 139333677-139333681, 139333687-139333742, 139333756-139333871 |
| 1116 | NOTCH1 | 9 | 0.90349504434011 | 740 | 7668 | 139390792-139390798, 139390837, 139390892-139390894, 139390907-139390928, 139390944-139390954, 139390962-139391036, 139391043-139391053, 139391060-139391064, 139391069-139391073, 139391122-139391128, 139391304-139391333, 139391387-139391391, 139391399-139391412, 139391431-139391456, 139391473-139391486, 139391502-139391547, 139391670-139391671, 139391749-139391836, 139391842-139391886, 139391895-139391910, 139391942-139391946, 139391963-139392010, 139395039-139395043, 139395049-139395054, 139395090, 139395094, 139396346, 139396833-139396839, 139396887-139396896, 139399215-139399218, 139399266, 139399277-139399280, 139399801, 139400159-139400165, 139400263-139400294, 139400300-139400333, 139401211-139401215, 139403431-139403437, 139407481-139407528, 139407557-139407560, 139417469-139417470, 139417583-139417584, 139417588-139417595, 139417605-139417607, 139440178-139440238 |
| 1117 | AGPAT2 | 9 | 0.7741935483871 | 189 | 837 | 139568220, 139571069-139571079, 139571511-139571515, 139571540-139571546, 139571570-139571573, 139581649-139581809 |
| 1118 | SLC34A3 | 9 | 0.81055555555556 | 341 | 1800 | 140127047-140127053, 140127826-140127833, 140127839, 140127843, 140127850-140127856, 140128132-140128161, 140128315-140128393, 140128561-140128563, 140128571-140128622, 140128628-140128652, 140128662-140128668, 140128681-140128687, 140128893-140128897, 140128932-140128968, 140129130-140129131, 140129136-140129137, 140129143, 140130500, 140130620-140130621, 140130748-140130771, 140130795-140130833, 140130860 |
| 1119 | EHMT1 | 9 | 0.96587118296125 | 133 | 3897 | 140513481-140513501, 140605445, 140605449-140605462, 140611183-140611184, 140611190, 140611455-140611456, 140638521, 140671263-140671266, 140672365-140672368, 140672489-140672491, 140707556-140707559, 140708889-140708890, 140708898-140708902, 140711923, 140729271-140729332, 140729387-140729392 |
| 1120 | SHOX | X | 0.88168373151308 | 104 | 879 | 595497-595507, 595515-595524, 595551, 605157-605181, 605265-605309, 605315-605326 |
| 1121 | CSF2RA | X | 0.9992337164751 | 1 | 1305 | 1422183 |
| 1122 | KAL1 | X | 0.95349975526187 | 95 | 2043 | 8699918-8699924, 8699965-8700008, 8700016-8700059 |
| 1123 | GPR143 | X | 0.93647058823529 | 81 | 1275 | 9733670-9733677, 9733685-9733757 |
| 1124 | SMS | X | 0.95549500454133 | 49 | 1101 | 21958943-21958991 |
| 1125 | ARX | X | 0.68324452338662 | 535 | 1689 | 25025523-25025531, 25028415-25028422, 25031053-25031059, 25031218-25031242, 25031253-25031288, 25031350-25031408, 25031421-25031467, 25031485-25031527, 25031545-25031812, 25031828-25031833, 25031876-25031883, 25031890-25031896, 25031903-25031914 |
| 1126 | NR0B1 | X | 0.98018400566171 | 28 | 1413 | 30326618-30326621, 30327160, 30327205-30327226, 30327407 |
| 1127 | GK | X | 0.99578820697954 | 7 | 1662 | 30709290-30709296 |
| 1128 | DMD | X | 0.9994574064026 | 6 | 11058 | 31514985-31514990 |
| 1129 | RPGR | X | 0.95316565481353 | 162 | 3459 | 38145386-38145426, 38145504-38145624 |
| 1130 | BCOR | X | 0.99886104783599 | 6 | 5268 | 39932842-39932847 |
| 1131 | NYX | X | 0.57883817427386 | 609 | 1446 | 41332846-41333298, 41333307-41333374, 41333387-41333392, 41333439-41333446, 41333456-41333468, 41333502-41333555, 41333602-41333608 |
| 1132 | CASK | X | 0.99855386840202 | 4 | 2766 | 41379828-41379831 |
| 1133 | SYN1 | X | 0.78281397544854 | 460 | 2118 | 47433493-47433516, 47433598-47433802, 47433810-47433820, 47433836-47433904, 47434111, 47478751, 47478762-47478768, 47478775-47478787, 47478820-47478842, 47478849-47478855, 47478930-47478954, 47479035-47479055, 47479063-47479086, 47479094-47479116, 47479122-47479127 |
| 1134 | CFP | X | 0.98297872340426 | 24 | 1410 | 47488923-47488939, 47489168-47489174 |
| 1135 | WAS | X | 0.96951623591783 | 46 | 1509 | 48547206-48547216, 48547267-48547301 |
| 1136 | CACNA1F | X | 0.99932591843613 | 4 | 5934 | 49061627-49061630 |
| 1137 | AR | X | 0.92978646398842 | 194 | 2763 | 66765155-66765223, 66765454-66765481, 66766005-66766012, 66766143, 66766171-66766202, 66766357-66766412 |
| 1138 | DLG3 | X | 0.99225753871231 | 19 | 2454 | 69665140-69665158 |
| 1139 | MED12 | X | 0.98377716559535 | 106 | 6534 | 70338619-70338703, 70360660-70360669, 70360675-70360676, 70360693-70360701 |
| 1140 | TAF1 | X | 0.97553678282295 | 139 | 5682 | 70586165-70586230, 70586238-70586273, 70586289-70586325 |
| 1141 | SLC16A2 | X | 0.94951140065147 | 93 | 1842 | 73641362-73641401, 73641428-73641445, 73641539-73641544, 73641569-73641579, 73641586-73641589, 73641594-73641600, 73641767-73641773 |
| 1142 | BRWD3 | X | 0.99426881124053 | 31 | 5409 | 80064940-80064970 |
| 1143 | POU3F4 | X | 0.99447513812155 | 6 | 1086 | 82763841-82763846 |
| 1144 | PCDH19 | X | 0.99395039322444 | 20 | 3306 | 99663576-99663595 |
| 1145 | ACSL4 | X | 0.99859550561798 | 3 | 2136 | 108911391-108911393 |
| 1146 | OCRL | X | 0.9929785661493 | 19 | 2706 | 128674437-128674455 |
| 1147 | GPC3 | X | 0.97934595524957 | 36 | 1743 | 133119352-133119387 |
| 1148 | HPRT1 | X | 0.95890410958904 | 27 | 657 | 133594342-133594368 |
| 1149 | SLC9A6 | X | 0.96581196581197 | 72 | 2106 | 135067719-135067725, 135067832-135067884, 135067948-135067959 |
| 1150 | ZIC3 | X | 0.96866096866097 | 44 | 1404 | 136648981-136648987, 136649014, 136651070-136651075, 136651086-136651096, 136651118-136651124, 136651146-136651152, 136651162-136651166 |
| 1151 | SOX3 | X | 0.5413870246085 | 615 | 1341 | 139585901-139585977, 139585989-139586009, 139586016-139586071, 139586144-139586478, 139586521-139586538, 139586588-139586594, 139586612-139586640, 139586676-139586683, 139586691-139586741, 139586774-139586778, 139586926-139586933 |
| 1152 | FAM58A | X | 0.96598639455782 | 25 | 735 | 152864476-152864480, 152864483, 152864503-152864521 |
| 1153 | SLC6A8 | X | 0.85534591194969 | 276 | 1908 | 152954030-152954291, 152957479-152957491, 152959817 |
| 1154 | ABCD1 | X | 0.97140303842717 | 64 | 2238 | 153008675-153008688, 153008708, 153009014-153009047, 153009080-153009094 |
| 1155 | L1CAM | X | 0.99841017488076 | 6 | 3774 | 153130596-153130601 |
| 1156 | MECP2 | X | 0.95457581830327 | 68 | 1497 | 153296209-153296214, 153363061-153363122 |
| 1157 | OPN1LW | X | 0.98721461187215 | 14 | 1095 | 153409823-153409828, 153420069-153420075, 153424300 |
| 1158 | OPN1MW | X | 0.95707762557078 | 47 | 1095 | 153448187-153448226, 153457199-153457205 |
| 1159 | OPN1MW | X | 0.95616438356164 | 48 | 1095 | 153485305-153485344, 153494317-153494323, 153498548 |
| 1160 | FLNA | X | 0.98879657603223 | 89 | 7944 | 153592405-153592411, 153592416-153592417, 153592421, 153599241-153599260, 153599294-153599303, 153599549-153599597 |
| 1161 | EMD | X | 0.99738562091503 | 2 | 765 | 153607881-153607882 |
| 1162 | G6PD | X | 0.9969474969475 | 5 | 1638 | 153775071-153775075 |
| 1163 | IKBKG | X | 0.98633879781421 | 20 | 1464 | 153788624-153788636, 153788705-153788711 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 5 | BRCA1-Q356R | het unknown | 0.023 | Dominant pathogenic | Moderate clinical importance, likely | This variant was associated with an increased susceptibility to breast cancer. Johnson et al. found strongest significance for a dominant hypothesis. We estimate a woman carrying this variant to have an attributable increased lifetime risk of breast cancer of ~6% (~18% total, assuming 12% average lifetime risk). |
| 4 | APOA5-S19W | homozygous | 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. |
| 2.5 | 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 | het unknown | 0.822 | 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 | CETP-A390P | het unknown | 0.015 | Unknown pathogenic | Low clinical importance, likely | This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl). |
| 2.5 | CETP-V422I | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2.5 | RNASEL-D541E | homozygous | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2.5 | RNASEL-R462Q | homozygous | 0.208 | Complex/Other pathogenic | Low clinical importance, uncertain | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. |
| 2.5 | COL4A1-Q1334H | homozygous | 0.292 | Dominant pathogenic | Low clinical importance, likely | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. |
| 2.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | TP53-P72R | homozygous | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
| 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 | ITGAM-R77H | het unknown | 0.095 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.048 (benign) |
| 2 | ITGAM-A859V | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | ITGAM-P1147S | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-G1166S | het unknown | 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 |
| 1.375 | 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 |
| 1.375 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.375 | SYNE1-E6786Shift | het unknown | Recessive pathogenic | Moderate clinical importance, uncertain | This may be rare and may cause cerebellar ataxia in a recessive manner. This is a disruptive variant, but most of reported causal variants have been upstream of this position -- the few reports of causal downstream variants lack statistical significance. This protein is very large, it's possible that truncating variants this far along in the product do not have as severe an effect. | |
| 1.375 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.375 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.375 | SYNE1-K4121R | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.375 | 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 |
| 1.375 | SYNE1-A2795V | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1.375 | SYNE1-V1035A | het unknown | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1.375 | CFTR-V470M | homozygous | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.375 | CFTR-G576A | het unknown | Recessive pathogenic | High clinical importance, likely | Associated with causing congenital bilateral absence of the vas deferens in a recessive manner. Reported cases were compound heterozygous with CFTR-F508Del. | |
| 1.375 | CFTR-R668C | het unknown | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | CLECL1-S52Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CHIT1-G102S | het unknown | 0.268 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 1 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 1 | GPC3-V429M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SRRM3-R579Shift | 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 | 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 | POLN-Q121H | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 1 | ATP7A-V767L | homozygous | 0.332 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ATP7A-E1350K | homozygous | 1.000 | 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 | 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 | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-E603Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | GLA-R252T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-M356I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-N3T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TTN-R30395H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V28135M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I26820T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-E26518K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I25199V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I23649T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R21422H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V19783I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T18827I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-N16125D | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-A14593V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-R9852H | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-G9378R | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-I9278V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-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 | NM_001161833-M27T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NM_001161833-T58A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NM_001161833-A174Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF148-*795Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | LAMP2-I252S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | DSG2-I293V | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DYX1C1-E417* | het unknown | 0.354 | Unknown pathogenic | Low clinical importance, uncertain | One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive. |
| 1 | HTRA2-E165Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | SLCO1B1-N130D | homozygous | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | SLCO1B1-V174A | het unknown | 0.097 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | NR_015394-G45W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_015394-F74S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_015394-T113Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | GCKR-L446P | homozygous | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | VPS11-L73Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VPS11-K887R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PROZ-R295H | homozygous | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.884 (probably damaging) |
| 1 | HTR2C-C23S | homozygous | 0.191 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign) |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | NM_001145710-Q302Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | C20orf54-I303V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | C20orf54-T278M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | C20orf54-P267L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | C20orf54-I74M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | COL6A2-A68V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SSX1-F101C | homozygous | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 1 | SH2B3-W262R | homozygous | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | SLC30A8-R325W | homozygous | 0.225 | 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 | C5orf20-R117* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | C5orf20-N97D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C5orf20-T75P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | C14orf184-E123Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | C14orf184-G95E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | MYO3A-R319H | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO3A-I348V | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO3A-V369I | homozygous | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO3A-A833S | homozygous | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 1 | MYO3A-S956N | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO3A-T1284S | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 1 | MYO3A-R1313S | homozygous | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | OPN1LW-I230T | homozygous | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | OPN1LW-A233S | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | OPN1LW-M236V | homozygous | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | RPGR-VEGE1025Del | homozygous | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | RPGR-A781T | homozygous | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | NR_027444-W159Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CUL7-Q813R | 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 | CHRNA5-D398N | het unknown | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign) |
| 1 | SEPN1-C108Y | het unknown | 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 | SKA3-D335E | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 1 | NR_027242-N339D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-N339D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | 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 |
| 1 | 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 |
| 1 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CNGB3-L150Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | AURKA-I57V | het unknown | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AURKA-F31I | het unknown | 0.366 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | C14orf104-D768G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | BLMH-I443V | het unknown | 0.241 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | GABRE-P437L | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | GABRE-S102A | homozygous | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.902 (probably damaging) |
| 1 | CYP2C9-I359L | het unknown | 0.016 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.048 (benign) |
| 1 | BANK1-R61H | het unknown | 0.221 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | BANK1-A383T | het unknown | 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 |
| 0.75 | NPC1-I858V | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-M642I | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-H215R | het unknown | 0.222 | Complex/Other protective | Low clinical importance, likely | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). |
| 0.75 | PRNP-M129V | het unknown | 0.258 | Complex/Other protective | Low clinical importance, well-established | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. |
| 0.625 | 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 |
| 0.5 | CYP21A2-R103K | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP21A2-S494N | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | HIST1H4B-K9Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HIST1H4B-S2Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-DQB1-S229N | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-L8M | het unknown | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A11T | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-M230V | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BTNL2-G454C | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | BTNL2-P393Q | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | BTNL2-M380I | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.225 (possibly damaging) |
| 0.5 | BTNL2-P379L | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | BTNL2-D336N | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.583 (possibly damaging) |
| 0.5 | BTNL2-T165I | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | HLA-H-Q61R | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-R100C | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-G109S | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NSD1-G982R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ALDH5A1-H180Y | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WDR55-C151R | homozygous | 0.874 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | WDR55-S210F | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging) |
| 0.5 | WDR55-Y235C | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | ADRB2-G16R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ADRB2-E27Q | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | PDE6A-Q492H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SLC22A4-I306T | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SLC22A4-L503F | het unknown | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FBN2-M2311V | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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-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 | NR_027706-G126Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | ALDH7A1-K439Q | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | SLC26A2-T689S | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-K1516R | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-R1826H | homozygous | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-F2301Y | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-D2937Y | homozygous | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SQSTM1-V240I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | FLT4-R1146H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLT4-N149D | het unknown | 0.023 | Unknown benign | Low clinical importance, likely | Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect. |
| 0.5 | NUP153-D975Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NUP153-A827T | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NUP153-N402K | homozygous | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NUP153-I248V | homozygous | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GMCL1L-N523D | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GMCL1L-P521Q | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GMCL1L-D483Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GMCL1L-R440C | het unknown | 0.460 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GMCL1L-N393S | homozygous | 0.891 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GMCL1L-R378H | het unknown | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GMCL1L-S40G | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PROP1-A142T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC36A3-K167E | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC36A3-G83E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | MRPL22-G154S | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | KIF4B-R580L | het unknown | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIF4B-I834Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | KIF4B-Q981H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BCLAF1-L461H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.588 (possibly damaging) |
| 0.5 | BCLAF1-Y459D | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | BCLAF1-S209C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BCLAF1-R45M | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | COL11A2-G461D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL11A2-G297S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL11A2-E276K | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MBOAT4-L402Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MBOAT4-T46A | homozygous | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GGH-T151I | het unknown | 0.089 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.846 (possibly damaging) |
| 0.5 | LRRCC1-H69Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | LRRCC1-T210A | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | NBN-E185Q | homozygous | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NAT2-I114T | het unknown | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT2-R197Q | het unknown | 0.272 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT2-R268K | het unknown | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-T682N | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRSS1-A148L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AF035281-S47Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AF035281-Q119R | homozygous | 0.697 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DLGAP2-P205Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GIMAP2-V74F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.954 (probably damaging) |
| 0.5 | GIMAP2-H161R | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 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 | GRHL2-K9R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ROR2-V819I | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HSD17B3-L256F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HEMGN-T108Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ALG2-V367A | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG2-S11P | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VPS13A-E198V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | EXOSC3-Y225H | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.923 (probably damaging) |
| 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 | RECQL4-R1005Q | homozygous | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | DENND4C-I5L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | KIF24-S837F | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | KIF24-W218L | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIF24-M140V | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 0.5 | KIF24-R109G | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | TOPORS-H881Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | FLNC-R1241C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | BC032716-Y42Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | KIAA1009-E38Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | RARS2-V235M | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ARMC2-T546M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | WISP3-P44L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | WISP3-P49T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | WISP3-Q74H | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | LMBRD1-D469E | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX6-P939Q | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX6-A809V | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CAPN11-I145Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CAPN11-V266M | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
| 0.5 | CAPN11-S728N | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PKHD1-G2285E | het unknown | Unknown benign | Low clinical importance, uncertain | Tentatively classified as benign. Computationally predicted to be disruptive, but this has been seen twice in various unaffected controls and has not among published patients with autosomal recessive polycystic kidney disease, significantly contradicting a 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 | EYS-S2556C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-R2326Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-N1902I | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L1873V | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L1748F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-S1517G | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-R1515W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-I1451T | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L1419S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-I1361V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-I1263V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-E1199D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-L852P | homozygous | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-G631S | homozygous | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-Q571R | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-T120M | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EFHC1-M448T | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.578 (possibly damaging), Testable gene in GeneTests |
| 0.5 | EFHC1-I619L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.5 | FAM26F-E293K | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.855 (probably damaging) |
| 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 | RSPH4A-N627H | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AKAP9-M463I | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-N2792S | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-P2979S | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GATAD1-R233W | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PON1-L55M | homozygous | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ABCB1-S893A | homozygous | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ABCB1-S400N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ABCB4-T175A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AK125766-R117H | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK125766-V114I | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK125766-R20* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | DNAH11-V1023A | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | het unknown | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | homozygous | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V3715L | homozygous | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-E3752K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DNAH11-T4177I | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_024390-W43* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | NR_024390-A104P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TXNDC3-C208R | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | WDR1-V591Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | WDR1-I185V | homozygous | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GFM2-R744G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | GFM2-FE609Del | het unknown | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ASPM-L2647I | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Q2620H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNPEP-K260N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | LAX1-P396S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | LAMB3-A926D | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMB3-N690S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMB3-V527M | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMB3-N181D | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.842 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFHR1-H157Y | homozygous | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFHR1-E175Q | homozygous | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-V62I | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-H402Y | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP8B2-K549Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | IL6R-D358A | het unknown | 0.266 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.911 (probably damaging) |
| 0.5 | RHBG-G76D | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-G315R | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-P424Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | RHBG-H428R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PLA2G4A-R651K | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4A-N740Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HMCN1-I5255T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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-I1665T | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-V230M | het unknown | 0.008 | Recessive benign | Low clinical importance, uncertain | This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic). |
| 0.5 | USH2A-A125T | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAB3GAP2-S1092T | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 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 | NR_027251-H75Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ALMS1-R392C | het unknown | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S524SP | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-G1414A | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-I1875V | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-I2070T | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S2111R | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R2284P | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R2826S | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-N2856S | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH6-V141M | het unknown | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 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-V2898I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.931 (probably damaging) |
| 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 | OTOF-G741V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OTOF-R82C | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRSS38-A123D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | PRSS38-M204V | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EDARADD-M9I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EDARADD-S103F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | MTR-G90E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTR-G90E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTR-D919G | het unknown | 0.262 | Complex/Other protective | Low clinical importance, uncertain | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. |
| 0.5 | APOB-S4338N | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-E4181K | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-P2739L | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-I2313V | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-H1923R | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Low clinical importance, uncertain | This position is almost certainly an error in the HG18 reference sequence. |
| 0.5 | APOB-A618V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AX746649-W43* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | 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 |
| 0.5 | 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 |
| 0.5 | FLG-S2836R | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-E2652D | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | 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 |
| 0.5 | FLG-K2444E | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-D2339N | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-Y2119H | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-H1961Q | het unknown | 0.418 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1891Q | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G1783E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FLG-R1699C | het unknown | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1684H | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S1482Y | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1360H | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-A1167G | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-E755K | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | FLG-T454A | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | 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 |
| 0.5 | ZNF687-G259E | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF687-G636S | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | FAM46B-H416R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) | |
| 0.5 | DCDC2B-Q271* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | GJB4-V52Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests |
| 0.5 | PPT1-I134T | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNKSR1-P284Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | UBXN10-M1Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NPHP4-P1160L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.439 (possibly damaging), Testable gene in GeneTests |
| 0.5 | NPHP4-E618K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RNF207-R539C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 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 | 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 | CLCNKB-R27L | het unknown | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-W38R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CLCNKB-A214G | het unknown | 0.815 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A287V | het unknown | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-M562T | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-K578E | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MTHFR-E429A | het unknown | 0.243 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 0.5 | ZNF643-R197K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF643-E209* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | DEM1-L151P | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.948 (probably damaging) |
| 0.5 | GBP3-N572Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GBP3-C491R | homozygous | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GBP3-V469M | homozygous | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DPYD-I543V | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DPYD-R29C | het unknown | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | 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 | LEPR-K109R | homozygous | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.5 | LEPR-Q223R | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | LRP8-D46E | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZMYND12-I357Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZMYND12-F316L | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCDC30-N6Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CCDC30-H772N | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | LEPRE1-M549I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests |
| 0.5 | LEPRE1-G349R | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CYP4A22-R126W | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4A22-G130S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | CYP4A22-N152Y | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4A22-V185F | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.472 (possibly damaging) |
| 0.5 | CYP4A22-C231R | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4A22-L428P | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAAH-P129T | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 0.5 | ZAP70-I342T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-D5573N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R880H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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 | EVC-R576Q | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | WFS1-V333I | het unknown | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFS1-C360Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | WFS1-R611H | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGRN-E728V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | CC2D2A-K507E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CPN2-Q509R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CPN2-Q509R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | FAM194A-R549C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | FAM194A-L426V | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.5 | KIAA2018-V2200A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA2018-S1818G | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | KIAA2018-P222A | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | HGD-Q80H | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HSPBAP1-P456PS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HSPBAP1-L243V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.916 (probably damaging) |
| 0.5 | NPHP3-R397C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ABTB1-V132I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ABTB1-R306* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | PROM1-S19A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CWH43-P2T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CWH43-K696Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DNAH5-I4450V | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T4220A | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.959 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I766L | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM105A-C295Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | IL7R-I66T | homozygous | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-V138I | homozygous | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-I356V | het unknown | 0.214 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | 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 | TERT-A1062T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | BBS12-R386Q | het unknown | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BBS12-D467N | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ENAM-S1107N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GPRIN3-V446A | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GPRIN3-P390S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | GPRIN3-L39V | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CENPE-R1597S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | SLC9A10-V1058A | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
| 0.5 | SLC9A10-M844V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SLC9A10-G826S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.023 (benign) |
| 0.5 | SLC9A10-S768I | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.735 (possibly damaging) |
| 0.5 | SLC9A10-Q732K | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | SLC9A10-T705I | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | SLC9A10-T424A | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.239 (possibly damaging) |
| 0.5 | SLC9A10-I364V | het unknown | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC9A10-I348M | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC9A10-I286V | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC9A10-I158V | het unknown | 0.303 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | OR5H14-G64R | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | OR5H14-C179R | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | homozygous | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-G545A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | 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 | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALS2-P372R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ALS2-V368M | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RFTN2-N198K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 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 | 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-N2632D | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.168 (benign) |
| 0.5 | LRP2-G669D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) | |
| 0.5 | LRP2-N83S | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 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 | 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 | ATG16L1-T300A | homozygous | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TRPM8-R247T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.926 (probably damaging) | |
| 0.5 | TRPM8-Y251C | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TRPM8-S419N | het unknown | 0.379 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL7A1-P595L | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | QARS-N285S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | BSN-P1211S | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | BSN-A3863T | het unknown | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.235 (possibly 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 | CACNA2D2-R75Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | TGM4-N110Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ULK4-R862* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ULK4-S640A | homozygous | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK4-A542T | homozygous | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK4-I224V | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK4-K39R | homozygous | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.031 (benign) |
| 0.5 | COL6A3-T3069I | homozygous | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A3012P | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2927T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANO7-D70N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | ANO7-A494V | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | XPC-A499V | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XPC-R492H | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN5A-H558R | het unknown | 0.215 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HACL1-I151F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.967 (probably damaging) |
| 0.5 | ABCA1-K1587R | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-I883M | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-V825I | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-R219K | het unknown | 0.498 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-H49Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AK311524-V28A | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK311524-W181Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PEG3-L1390* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-H632Q | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-R265G | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MRPL28-H27Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | POLG-E1143G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | IREB2-V159L | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IREB2-K233Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | IREB2-I580T | homozygous | 0.944 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1024-N258H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | ADAMTSL3-H146R | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | ADAMTSL3-L290V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-V661L | het unknown | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-T1660I | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ZNF544-R615* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ACSM5-R65Q | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACSM5-E182K | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACSM5-M217V | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACSM5-L282F | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ACSM5-P352R | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | SH2B1-T484A | het unknown | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RPGRIP1L-T1143S | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CES1-N132Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CES1-S12A | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CES1-I7V | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CES1-F6L | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CES1-R4P | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging) |
| 0.5 | CR600589-S477Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AARS-K820R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CORO1A-G16Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF880-N106Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF880-N140NN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF880-Y150C | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-R198S | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-N202H | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-K471R | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF480-C3Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | FPR1-E346A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | homozygous | 0.516 | 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 | SHANK1-G1896Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CYP1A1-R464S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (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 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK2-R423* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests | |
| 0.5 | FANCM-I208M | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | SALL4-L507R | het unknown | 0.328 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRIP10-E399Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TEP1-H2562R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1622Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TEP1-C1468Y | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S1195P | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1155Q | 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-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-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 | RPGRIP1-K192E | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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. |
| 0.5 | RPGRIP1-E1033Q | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC7A7-G101A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PSMB5-R24C | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-P4733T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | GPX2-Y124* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC28A2-P22L | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A2-S75R | homozygous | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ZNF335-D865E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | ZNF335-P655S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | ZNF335-S294T | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZFYVE26-N1891S | het unknown | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-C1457Y | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | ZFYVE26-P1103L | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging), Testable gene in GeneTests |
| 0.5 | DCAF4-K193T | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | DCAF4-S325G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.962 (probably damaging) |
| 0.5 | MLH3-N826D | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | JPH3-S209T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ZNF469-R366S | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.133 (benign) |
| 0.5 | ZNF469-K1162E | homozygous | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.034 (benign) |
| 0.5 | ZNF469-P1420L | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF469-R2582Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF469-D2749V | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.793 (possibly damaging) |
| 0.5 | ZNF469-H2848R | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF469-T3636A | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | RNF157-G208R | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.859 (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 | SEPT9-P145L | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | UNC13A-L1121P | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UNC13A-A53Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZNF486-Y210* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | COG1-N392S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COG1-R571Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DNAI2-A558T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-K347N | homozygous | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-A437V | homozygous | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGB4-L1779P | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GCDH-A316T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ZNF750-P288L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | ZNF750-M235V | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | ABCA7-E188G | het unknown | 0.307 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.239 (possibly damaging) |
| 0.5 | ABCA7-T319A | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCA7-H395R | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | ABCA7-R463H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.975 (probably damaging) |
| 0.5 | ABCA7-F1390L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | ABCA7-G1527A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCA7-Q1686R | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.486 (possibly damaging) |
| 0.5 | ZNF77-Q100* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PNPLA6-P447L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PLIN5-R306W | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PLIN5-C255R | het unknown | 0.888 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.031 (benign) |
| 0.5 | ADNP2-T86A | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.615 (possibly damaging) |
| 0.5 | ADNP2-G986E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.923 (probably damaging) | |
| 0.5 | CD226-S307G | het unknown | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-T134S | het unknown | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | STXBP2-I526V | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-N1376D | het unknown | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TBX4-A35V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | TMEM95-A103Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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-I921M | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP2B6-R487C | het unknown | 0.074 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign) |
| 0.5 | ANKFY1-K11Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ERCC2-K751Q | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-D312N | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPA-I170T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ZNF224-M118V | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-T177M | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | 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 | DLL3-L218P | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCO1-H114Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | PRODH2-P91R | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests |
| 0.5 | NM_014727-L1882Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NM_014727-D2361G | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEPT4-E311V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.856 (probably damaging) |
| 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 | 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 | ADORA2B-M219Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | WDR62-L850S | homozygous | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-Q1310L | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-G1375S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-L1390F | homozygous | 0.736 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT9-S366G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | KRT14-A94T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT14-C63Y | het unknown | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT14-R56C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CABLES2-V381L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.936 (probably damaging) |
| 0.5 | SLC19A1-H27R | homozygous | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.5 | KAL1-V534I | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R2155W | homozygous | 0.022 | Unknown benign | Low clinical importance, likely | Probably benign. |
| 0.5 | CD6-P105L | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CD6-R225W | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | CD6-A257V | het unknown | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CD6-A271T | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CD6-T539A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SPRYD5-I129Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ARSE-G424S | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | PEX16-V103M | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MADD-S935C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | LIG4-T9I | het unknown | 0.132 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.966 (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 |
| 0.5 | 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 | COL6A2-S399N | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDHR1-P812S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FTCD-A438V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_027052-R29H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027052-T53Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_027052-Y63N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CCDC7-L77Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-L438V | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HIC2-P362L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | BAIAP2L2-IAPSEYWDGQSRSR441Del | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BAIAP2L2-M411MTPM | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | BAIAP2L2-M411MTPM | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | ALX4-R35T | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSA-R496H | het unknown | 0.048 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSA-T391S | homozygous | 0.423 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSA-N350S | het unknown | 0.241 | Unknown benign | Low clinical importance, well-established | This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability. |
| 0.5 | ANK3-S4333* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ANK3-K3123R | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AX746750-S137Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ASMTL-*622Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ASMTL-G434S | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ASMTL-Y364H | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.5 | ASMTL-S228P | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCC2-V417I | het unknown | 0.195 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ANXA11-R230C | het unknown | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | GRID1-V529I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | GRID1-M430V | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
| 0.5 | PDE6C-S270T | homozygous | 0.419 | 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 | COL17A1-M703V | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | het unknown | 0.557 | 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 | SLC6A5-G102S | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCF-Q211H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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 | MUC5AC-V497A | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC5AC-A2718T | homozygous | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC5AC-T4230M | homozygous | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MUC5AC-W5682* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | HABP2-T50M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | BAG3-C151R | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMBT1-P42T | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | DMBT1-S54L | het unknown | 0.692 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.84 (possibly damaging) |
| 0.5 | DMBT1-H1084Y | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PCDH15-D440A | homozygous | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDH15-S19A | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SNX19-L878R | homozygous | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-V361L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-*768Q | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-M521T | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | PTCHD3-C407G | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | 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 | KRTAP19-3-G54Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SUCLA2-S199T | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NUPL1-A34T | homozygous | 0.382 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NUPL1-T234Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CENPJ-S879A | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CENPJ-P85T | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | POMT1-A619V | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PIWIL1-G80Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FNDC3A-T1017A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | KCNRG-Y101Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | FARP1-H644Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MUSK-N664S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.44 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK9-R18W | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | UGGT2-H1381R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | UGGT2-M994L | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.903 (probably damaging) |
| 0.5 | UGGT2-A821T | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.042 (benign) |
| 0.5 | UGGT2-S328A | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UGGT2-A323T | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CLN5-R2C | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLN5-N242K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYT1-E273Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NEK3-Q293Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DIAPH3-P588L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | COL9A3-P296L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-S2612G | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-T1855A | homozygous | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMAB-M239K | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL18A1-V144I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATRX-Q929E | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XIAP-Q423P | homozygous | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DENND5B-H336Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.869 (probably damaging) |
| 0.5 | SCNN1A-T722A | het unknown | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SCNN1A-P37L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | WNK1-T1056P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-M1808I | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAD52-Y415* | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | VWF-T1381A | het unknown | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABO-P353Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ABO-V276M | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-F215I | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-S74P | het unknown | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-H63R | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-F36V | het unknown | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRTAP10-10-E28Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | KRTAP10-10-V158M | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.14 (benign) |
| 0.5 | CELP-K177E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CELP-Q180* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | CELP-L184P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KIF5A-P986L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | BEST3-Y43H | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TMPRSS3-I253V | het unknown | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TMPRSS3-V53I | het unknown | 0.113 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.36 (possibly damaging), Testable gene in GeneTests |
| 0.5 | KRT83-H493Y | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-I279M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | 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-S1647T | homozygous | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VDR-M1T | het unknown | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | COL2A1-E142D | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-R337Q | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-T312I | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-L278V | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CACNA1S-R1658H | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CACNA1S-L458H | het unknown | Unknown benign | Low clinical importance, likely | Common polymorphism | |
| 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 | CBR3-C4Y | het unknown | 0.391 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 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 | FMO2-S195L | het unknown | 0.465 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | KCNE1-S38G | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | THBD-A473V | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NOTCH2-N46S | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NOTCH2-E38K | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), 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 | MMP9-Q279R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MMP9-R574P | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CPT2-V368I | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TSEN15-G19D | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.25 | TSEN15-Q59H | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.961 (probably damaging) |
| 0.25 | TLR5-F822L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR5-F616L | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.25 | TLR5-N592S | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | PNPLA3-I148M | het unknown | 0.268 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | PNPLA3-K434E | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RYR2-Q2958R | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | EP300-I997V | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIOBP-S217N | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-Q398Del | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-E1372D | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.25 | SIX5-P635S | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SIX5-L556V | het unknown | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A2-Q326R | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD3EAP-K428Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CD3EAP-Q504K | het unknown | 0.284 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.25 | MYH9-I1626V | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | UGT2B15-K523T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | UGT2B15-Y85D | het unknown | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | 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 | FIG4-V654A | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6B-N227S | het unknown | 0.623 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC22A16-H49R | het unknown | 0.333 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SOD2-V16A | het unknown | 0.362 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PMS2-K541E | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PMS2-P470S | het unknown | Unknown benign | Low clinical importance, likely | Benign, common variant. | |
| 0.25 | PLG-D472N | het unknown | 0.151 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | COL9A1-Q621R | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A1-S339P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | NHLRC1-P111L | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), 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 | TRIM15-S324N | het unknown | 0.155 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TNXB-N4055I | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TNXB-G2518E | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TNXB-H1161R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-A499T | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TULP1-T67R | het unknown | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | B3GALTL-E370K | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | BBS9-A455T | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-Q1413R | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-R1213G | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-M1097V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDH23-G488A | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDH23-S494N | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDH23-N1349D | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDH23-A1572T | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDH23-V1672I | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RET-G691S | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOCK8-A22V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.25 | DOCK8-P97T | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.25 | DNAI1-V335I | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PTF1A-S263P | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | PEX2-C184R | het unknown | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | EPHX2-R287Q | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 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 | NPSR1-N107I | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | NPSR1-S241R | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.25 | ELN-G422S | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC35C1-I227V | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNA2-T125A | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TH-V108M | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL1A2-P549A | het unknown | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH6-V1101A | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DRD3-G9S | het unknown | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | ERBB2-I655V | het unknown | 0.121 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.18 (benign) |
| 0.25 | ERBB2-P1170A | homozygous | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (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 | 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 | ATXN7-V862M | het unknown | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-V74M | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNB1-E32G | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | ATIC-T116S | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.25 | RAX-D44E | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MOGS-P293S | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MOGS-D239N | het unknown | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC3-R102K | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC3-S78T | het unknown | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FRZB-R324G | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | UNC13D-K867E | het unknown | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASP10-L522I | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-D91N | het unknown | 0.008 | Recessive benign | Low clinical importance, uncertain | This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2. |
| 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 | 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 | UGT2B7-Y268H | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | C4orf21-E1512* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C4orf21-N410S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCI-A86V | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCI-C742S | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A1-V189I | het unknown | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SLC28A1-Q237K | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A1-D521N | het unknown | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | XRCC3-T241M | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.188 (benign) |
| 0.25 | TTBK2-L8P | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GATM-Q110H | het unknown | 0.651 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LITAF-I92V | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DHODH-K7Q | het unknown | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign) |
| 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 | GPR56-S281R | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | TLR6-S249P | het unknown | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | FKTN-R203Q | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | H6PD-R453Q | het unknown | 0.407 | Recessive pathogenic | Low clinical importance, uncertain | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). |
| 0 | MPO-Y173C | het unknown | Recessive pathogenic | Low clinical importance, uncertain | This variant is reported to cause MPO-deficiency, which is generally asymptomatic. MPO-deficiency may cause increased susceptibility to immunodeficiency or antibacterial immune response, but most people with MPO deficiency have no symptoms. This gene is likely to be redundant with other immune mechanisms, and individuals who did have symptoms possibly had additional pathogenic variants in other genes. |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,772,140,101 bases (97.0% of callable positions, 90.0% of total positions)
Coding region coverage: 31,689,318 bases (95.2% of all genes, 96.5% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY