hu04FD18 - GET-Evidence variant report

Variant report for hu04FD18

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1MYL2-A13THighUncertainUncertain pathogenic

Dominant, Heterozygous
0.000185908This rare variant is implicated in causing late-onset familial hypertrophic cardiomyopathy. The variant has been found in five affected Caucasian individuals (in four families), but affected non-carriers and unaffected carriers have also been observed. No statistically significant enrichment of this variant in cases vs. controls has been shown.1
2PEX26-Y109HHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00288158Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause severe disorders involving peroxisome dysfunction (neonatal adrenoleukodystrophy, infantile refsum disease, and Zellweger syndrome).1
3STXBP2-R190CHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.000297265Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause familial hemophagocytic lymphohistiocytosis (a severe disorder that manifests in childhood).1
4C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
5LDLR-V827IModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.000371816LabCorps has reported this as a "likely pathogenic" in ClinVar: http://www.ncbi.nlm.nih.gov/clinvar/RCV000030135/ Other missense variants in this gene are reported to cause familial hypercholesterolemia in a dominant manner. However, according to ExAC allele frequency data this variant is carried by 1 in 400 with European descent -- roughly equal to the prevalence of the disease. This seems to contradict the reported effect: if this variant *were* a significant cause of the disease, we would expect it to account for a large fraction of cases and be well-established in literature -- but this does not appear to be the case.1
6MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This 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
7MBL2-R52CLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.048615This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).1
8RPGRIP1L-A229TLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0561443This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare.1
9APOA5-S19WLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0646151This 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
10rs5186LowLikelyLikely pathogenic

Unknown, Homozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
11ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
12SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This 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
13BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This 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
14rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 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
15FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
0.490519This 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
16CCR5-S185ShiftLowWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.047619Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains.1
17MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
18GABRD-R220HLowLikelyLikely benign

Unknown, Heterozygous
0.0161891Probably benign, one report hypothesized this variant was associated with epilepsy, but a follow-up investigation failed to establish any statistically significant difference for this variant's incidence in control vs. affected populations.1
19PKHD1-V3960ILowLikelyLikely benign

Unknown, Heterozygous
0.0128277Probably benign, reported as a nonpathogenic polymorphism found in controls.1
20PKHD1-I3905NLowLikelyLikely benign

Unknown, Heterozygous
0.048615Presumed benign, allele frequency contradicts severe pathogenic effect.1
21FANCI-P55LLowLikelyLikely benign

Unknown, Heterozygous
0.0507529Probably benign.1
22CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
23MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
24RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably 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
25NOTCH3-P496LLowUncertainUncertain benign

Unknown, Heterozygous
0.015625Presumed benign, seen in two healthy PGP participants.1
26PCCA-I475VLowUncertainUncertain benign

Unknown, Heterozygous
0.0377394Reported as a polymorphism, tentatively presumed benign.1
27SEPT9-R355WLowUncertainUncertain benign

Unknown, Heterozygous
0.000576147Rare, tentatively classified as benign. Other missense variants in this gene are reported to cause familial neuralgic amyotrophy in a dominant manner, but this was seen in a PGP participant who has not reported a family history of the disease.1
28VCAN-T689ALowUncertainUncertain benign

Unknown, Heterozygous
0.00644137Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect.1
29ABCB11-R698HLowUncertainUncertain benign

Unknown, Heterozygous
0.00542169Rare, classified as nonpathogenic in most reports (although Polyphen 2 predicts damaging effect). Other recessive variants in this gene cause intrahepatic cholestasis in a recessive manner.1
30RNASEH2B-I309ShiftLowUncertainUncertain benign

Unknown, Heterozygous
0.0234375This variant is predicted to be highly disruptive. Although other disruptive variants in this gene are reported to cause Aicardi-Goutieres syndrome in a recessive manner (a rare, fatal childhood disease), those variants were upstream of this position, and this variant is too common to be consistent with causing that disease (2% allele frequency). Based on this, it is tentatively evaluated as benign.1
31ABCA4-R943QLowUncertainUncertain benign

Unknown, Heterozygous
0.0316044This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.1
32DSP-E1833VLowUncertainUncertain benign

Unknown, Heterozygous
0.00929541Reported to be benign with 1.5% allele frequency, although predicted to have damaging effect by Polyphen 2.1
33OTOF-R773CLowUncertainUncertain benign

Unknown, Heterozygous
0.0161654Presumed benign. Seen in 2.4% of randomly chosen chromosomes, contradicting a severe pathogenic hypothesis.1
34APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
35HR-T1022ALowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0969511Probably benign. One study implicated it in causing alopecia universalis, but a later report noted the variant has an allele frequency inconsistent with the rarity of that disease.1
36SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
37RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
38PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
39MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
40KRT85-R78HLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.042466Presumed benign. Although this variant was implicated in causing ectodermal dysplasia in a recessive manner in two Pakistani families (one of which was large and consanguineous), GET-Evidence reports that the variant has been seen in 5 out of 114 random control chromosomes. This strongly contradicts a severe pathogenic effect.1
41SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.1
42PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
43TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
0.270682This 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
44TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
45TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
46FLG-R3530SLowUncertainUncertain benign

Unknown, Heterozygous
0.108849Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause ichthyosis vulgaris in a recessive manner.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31469988 / 33282720 = 94.55%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.7639296187683314496138955553-955753, 976047, 976056, 976080, 976090-976091, 976107-976112, 976125-976129, 976188-976260, 976553-976777, 976871-976888, 976891-976899, 976907-976920, 976936-976958, 977006, 977009, 977396, 977411, 977429, 978687-978714, 978742-978747, 978750, 978758-978761, 978766-978777, 979377-979387, 979396, 981635, 981799-981842, 981857-981867, 981886-981897, 981903-981931, 981935-981936, 981944-981953, 981960-981967, 981971-981979, 981986-981995, 982001-982008, 982017-982025, 982081-982085, 982200-982230, 982243-982285, 982324, 983219, 983409-983439, 983450, 983454-983456, 983469, 983495-983745, 984278-984282, 984347, 984415-984439, 984626-984692, 984946-984958, 985018, 985112-985114, 985160-985169, 985174, 985330-985342, 985359-985406, 985620-985626, 985630, 985633, 985636-985643, 985673, 985682, 985686, 985693-985696, 986180-986185, 986191-986200, 986714-986717, 986833-986835, 986843-986849, 986852, 986860-986868, 986883-986884, 986889, 986914, 986951-986955, 986964, 986968-986971, 987010-987011, 987146, 990241, 990245-990251, 990260, 990280-990282, 990302
2GABRD10.9220014716703510613591950863-1950930, 1957037-1957038, 1959657-1959679, 1959693-1959694, 1960553-1960555, 1960558, 1961507-1961509, 1961591-1961594
3PEX1010.841997961264021559812337270-2337273, 2337923-2337938, 2337941-2337946, 2338255, 2338280, 2339992-2339994, 2340000-2340001, 2340004-2340012, 2340124, 2340186-2340194, 2340200-2340201, 2340214-2340215, 2343843-2343941
4NPHP410.97780892314889542815923972, 5923975-5923978, 5923981, 5925258, 5925261-5925264, 5927107, 5927123-5927125, 5935113, 5935123-5935131, 5935139-5935140, 5935147, 5935151-5935158, 5937250, 5937255-5937269, 5937275-5937276, 5964732-5964772
5ESPN10.53060428849903120425656485016-6485226, 6485234-6485267, 6485276-6485294, 6488319-6488341, 6488378-6488384, 6488479, 6500346-6500358, 6500363-6500370, 6500385, 6500393-6500404, 6500411-6500416, 6500425-6500458, 6500463-6500468, 6500480-6500500, 6500686-6500868, 6501020, 6501023-6501024, 6501027, 6501030-6501034, 6501044-6501046, 6501075-6501103, 6505735, 6505776-6505820, 6505841-6505879, 6505888-6505937, 6508701-6508733, 6508741-6508781, 6508794-6508796, 6508804-6508806, 6508812, 6508818-6508832, 6508844-6509056, 6509064-6509128, 6511797-6511808, 6511907-6511933, 6512106-6512133, 6520078-6520080, 6520087, 6520128, 6520150-6520151, 6520154
6PLEKHG510.846973973032348831896528064, 6528172, 6529710-6529718, 6530339-6530340, 6530343-6530347, 6530625-6530664, 6530809, 6530823-6530865, 6530872-6530886, 6531110-6531120, 6531133-6531134, 6531561-6531566, 6531590-6531601, 6532636-6532637, 6532640-6532647, 6532653, 6533411-6533418, 6534073-6534224, 6534511-6534647, 6537658-6537685, 6557380-6557383
7KIF1B10.9932241671372136531310355737, 10355762, 10357005, 10357021, 10357024, 10357042-10357043, 10381806, 10381823, 10407846-10407847, 10421770, 10425559-10425561, 10425571-10425587, 10425590-10425591, 10425595-10425596
8PEX1410.9215167548500989113410535053-10535057, 10659331-10659357, 10659367, 10684434-10684454, 10684461-10684494, 10689689
9TARDBP10.9903614457831312124511082499-11082506, 11082528-11082531
10MTHFR10.999492643328261197111861408
11PLOD110.9766483516483551218411994837-11994885, 11994897, 11994909
12CTRC10.99876084262701180715771142
13CLCNKA10.93410852713178136206416349154-16349155, 16349158, 16349162-16349163, 16349182-16349183, 16349186, 16351272-16351278, 16353031-16353058, 16353078-16353092, 16353095-16353103, 16353192-16353194, 16353216-16353246, 16353254-16353270, 16353930, 16356957-16356958, 16357005-16357007, 16358726-16358729, 16358732, 16358738-16358743, 16358939
14CLCNKB10.9883720930232624206416373044-16373050, 16378741, 16378851-16378857, 16383002, 16383398-16383405
15ATP13A210.9726220716906697354317312732-17312735, 17313312-17313327, 17313580-17313622, 17313634-17313645, 17313654, 17322592, 17322607, 17322610, 17322617, 17323655, 17326553, 17326559-17326571, 17332049, 17332254
16SDHB10.9988137603796184317380485
17ALDH4A110.9864066193853423169219202926, 19203941-19203951, 19203974, 19204018-19204024, 19228970, 19228973, 19229017
18PINK110.77147766323024399174620960042-20960428, 20964418-20964429
19ALPL10.9834920634920626157521903890-21903891, 21903894, 21903899-21903914, 21904080-21904086
20HSPG210.981405585913782451317622149813-22149819, 22149829-22149885, 22149935, 22150142, 22157546-22157547, 22165421-22165426, 22165435, 22175171-22175176, 22175189, 22178073-22178080, 22179438-22179440, 22181127, 22181402-22181414, 22181851, 22181855, 22182052-22182055, 22183834, 22186480, 22191441-22191446, 22191450, 22191453-22191454, 22191554-22191556, 22199131, 22199135, 22199137-22199148, 22199155-22199158, 22199490-22199494, 22199503-22199528, 22202482-22202485, 22211163, 22213787, 22263648-22263710
21WNT410.9119318181818293105622446545, 22446733-22446744, 22446872, 22446883, 22446937, 22469339-22469415
22GALE10.9751671442215926104724122660-24122683, 24125461, 24125464
23HMGCL10.99897750511247197824134721
24FUCA110.90935046395432127140124194392, 24194441-24194453, 24194489-24194535, 24194545-24194566, 24194615-24194644, 24194685-24194688, 24194691, 24194694-24194696, 24194699-24194704
25LDLRAP110.899676375404539392725870190-25870277, 25880524-25880527, 25893476
26SEPN110.88968824940048184166826126722-26126904, 26139278
27YARS10.998739760554512158733246711, 33246714
28HPCA10.835051546391759658233359165-33359204, 33359398, 33359409-33359463
29GJB410.99500624219725480135227353-35227354, 35227521, 35227530
30ZMPSTE2410.995798319327736142840751603-40751608
31COL9A210.9661835748792370207040768389-40768400, 40768407-40768411, 40769251, 40769490-40769491, 40777344, 40777352, 40777358, 40781280, 40781282-40781290, 40781293-40781305, 40781311-40781312, 40782806, 40782835-40782836, 40782851-40782869
32KCNQ410.82040229885057375208841249766-41249997, 41250028-41250034, 41250041-41250058, 41284177-41284178, 41284189-41284194, 41284209, 41284219, 41284249-41284276, 41284286-41284296, 41284307-41284309, 41284314-41284326, 41284333-41284352, 41285090, 41289816, 41296779, 41298737, 41303361-41303362, 41303365-41303367, 41303407-41303414, 41304045-41304052, 41304058, 41304063, 41304133-41304134, 41304162-41304163, 41304168-41304169
33CLDN1910.99851851851852167543201667
34LEPRE110.89371325192221235221143212416-43212419, 43212424-43212425, 43212431-43212437, 43232182, 43232251-43232280, 43232287-43232288, 43232301, 43232304-43232306, 43232316-43232474, 43232482-43232485, 43232494-43232510, 43232515, 43232518, 43232589-43232590, 43232598
35SLC2A110.9844489519945923147943394623-43394624, 43394628-43394629, 43395678, 43424305-43424322
36MPL10.9696016771488558190843805710-43805713, 43806159, 43814527-43814535, 43814539-43814542, 43814553, 43814561, 43814666, 43814951, 43814969-43815000, 43815007-43815008, 43815011-43815012
37MUTYH10.9802421924792931156945797157-45797159, 45797172, 45797191-45797214, 45799192, 45799195-45799196
38MMACHC10.987043580683161184945966026, 45973989, 45974506-45974507, 45974828-45974833, 45974838
39POMGNT110.998991427130612198346660260, 46660263
40STIL10.9966382208430313386747735425-47735426, 47735429, 47759163, 47759173-47759180, 47759184
41ORC110.996519721577739258652851529, 52851539-52851540, 52851547-52851552
42CPT210.974203338391551197753662616-53662643, 53662697-53662705, 53676718-53676729, 53679071, 53679074
43DHCR2410.85041908446164232155155340835, 55352562-55352792
44PCSK910.93265993265993140207955505526-55505532, 55505539, 55505541-55505548, 55505554-55505590, 55505593, 55505708, 55509541, 55509590-55509592, 55509595, 55521713-55521718, 55521724, 55521759-55521762, 55521765-55521792, 55521795-55521801, 55524207-55524212, 55524221-55524229, 55524240-55524249, 55524257-55524261, 55529178, 55529181, 55529187, 55529192
45ALG610.9934640522875810153063894656, 63894666, 63894675-63894681, 63894723
46LEPR10.998570611778165349866036336-66036340
47CTH10.99917898193761121870877229
48GLMN10.998319327731093178592731985-92731986, 92755784
49RPL510.99552572706935489493300433-93300434, 93307376, 93307379
50ABCA410.9947229551451236682294461674-94461683, 94461694-94461699, 94467419-94467427, 94467438-94467440, 94473845, 94497411, 94544156-94544160, 94577096
51DPYD10.99902534113063307897848017, 97915705, 97915718
52AGL10.99369428136551294599100330089-100330092, 100347182, 100376270-100376277, 100378024-100378039
53COL11A110.951805021073852635457103363682-103363725, 103364222-103364322, 103364497-103364505, 103364516, 103364533, 103364538, 103381233, 103405902-103405904, 103412422, 103412432-103412439, 103427458, 103431074-103431078, 103435793-103435808, 103435818-103435828, 103440428, 103449709-103449719, 103453189, 103453203, 103453210-103453212, 103470164, 103470179, 103471642, 103471818-103471845, 103471855, 103471860-103471866, 103484374, 103496725-103496727
54GSTM110.15677321156773554657110230496-110230531, 110230792-110230867, 110231295-110231359, 110231670-110231673, 110231687-110231751, 110231847-110231947, 110232893-110232942, 110232952-110232988, 110233076-110233186, 110235898-110235901, 110235907, 110235910-110235912, 110235917
55NRAS10.996491228070182570115256505-115256506
56NGF10.9600550964187329726115828707-115828713, 115828800-115828803, 115829005-115829022
57VANGL110.9980952380952431575116226668, 116226677-116226678
58HMGCS210.9954158480681171527120299913-120299919
59NOTCH210.967367853290182427416120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539955, 120547962-120547968, 120548022-120548058, 120572544-120572575, 120572609-120572610, 120611961-120612017
60HFE210.99219359875098101281145415571, 145415577-145415583, 145415598, 145415692
61PRPF310.999025341130622052150315907, 150315914
62FLG10.9320531757754882812186152276100-152276115, 152276279-152276299, 152276383-152276389, 152276456-152276493, 152276523-152276563, 152276580-152276644, 152276671, 152276696-152276729, 152276801, 152276868-152276910, 152277011-152277058, 152277082-152277093, 152277162-152277171, 152277226-152277259, 152277345, 152277392-152277441, 152277453-152277473, 152277713-152277721, 152277881-152277887, 152278043-152278052, 152278431-152278437, 152278552-152278558, 152278689, 152278853-152278859, 152279016-152279022, 152279382-152279409, 152279524-152279530, 152279729, 152279744, 152279760, 152280029-152280036, 152280170, 152280180-152280182, 152280185-152280186, 152280347, 152280372, 152280444-152280474, 152280556-152280576, 152280594-152280617, 152280643-152280649, 152280733-152280762, 152280782, 152280788, 152280864, 152280900, 152281039, 152281479, 152281687-152281734, 152281945-152281951, 152283261-152283262, 152283407-152283433, 152283962, 152283966, 152283975, 152284149-152284175, 152284199-152284211, 152284374-152284380, 152284546-152284552, 152285137, 152285806-152285812, 152285998-152286005
63CHRNB210.97084161696488441509154540522-154540523, 154540532-154540534, 154540542-154540550, 154540552-154540560, 154540567, 154543835-154543836, 154544300-154544301, 154544384-154544385, 154544392-154544394, 154544399-154544402, 154544408-154544413, 154544419
64GBA10.9962756052141561611155206154-155206159
65PKLR10.98666666666667231725155264338-155264342, 155264420, 155264424, 155264434, 155269977-155269984, 155269996, 155269999-155270003, 155270007
66LMNA10.9594356261022923567156105053, 156105740-156105743, 156105764-156105769, 156106134-156106145
67LMNA10.96541353383459691995156084729-156084770, 156085003, 156105053, 156105740-156105743, 156105764-156105769, 156106134-156106145, 156108331, 156108349, 156108355
68SEMA4A10.98731408573928292286156124399-156124401, 156124409-156124410, 156124426-156124440, 156131137, 156131146, 156131149-156131151, 156131214-156131215, 156146535-156146536
69NTRK110.927227101631121742391156830727-156830874, 156837936, 156837946, 156843449-156843458, 156843588, 156843592, 156843684-156843692, 156848988, 156851330-156851331
70PPOX10.9993026499302611434161136715
71NDUFS210.999281609195411392161172233
72MPZ10.9202059202059262777161275726-161275745, 161275754-161275767, 161275898-161275925
73DDR210.9988317757009332568162688893, 162749959-162749960
74TBX1910.98960653303638141347168262435-168262441, 168274313-168274316, 168274323-168274325
75SLC19A210.95917001338688611494169454825-169454850, 169454859-169454893
76F510.99550561797753306675169499047-169499050, 169510325-169510343, 169515805-169515811
77MYOC10.996039603960461515171621478, 171621697-171621700, 171621703
78FASLG10.998817966903071846172628350
79SERPINC110.98781362007168171395173881093-173881109
80NPHS210.858506944444441631152179544818-179544824, 179544829, 179544845-179544999
81LHX410.9957374254049451173180199669, 180199690, 180199693-180199695
82RNASEL10.9968553459119572226182554685, 182555136-182555137, 182555894-182555897
83LAMC210.9997208263539913582183155531
84HMCN110.995623373550987416908185897745-185897752, 185897757-185897763, 185958658-185958687, 185987444, 185987447, 186037009, 186037088-186037092, 186077725-186077729, 186084059, 186114885-186114896, 186135347-186135349
85CFH10.98782467532468453696196658700-196658703, 196658707, 196658726-196658737, 196659193-196659217, 196695942, 196706067, 196706790
86CFHR110.990936555891249993196794735-196794741, 196797238, 196797244
87CFHR510.9988304093567321710196953134, 196953137
88ASPM10.992236917768838110434197057407, 197062239-197062241, 197069685-197069686, 197069694-197069709, 197069712-197069715, 197069719-197069725, 197069728, 197069916, 197070369-197070378, 197074265, 197097766-197097780, 197111823, 197115490, 197115495-197115510, 197115513, 197115567
89CACNA1S10.9987548914976975622201009811, 201038651, 201047075, 201081365-201081366, 201081377, 201081387
90PKP110.9972489683631462181201286771, 201286805-201286809
91TNNT210.9853603603603613888201333468-201333475, 201333481-201333484, 201333497
92CHIT110.9985724482512521401203191332-203191333
93LAMB310.9951690821256173519209797022, 209799162, 209800780-209800791, 209805941-209805943
94IRF610.9992877492877511404209974729
95RD310.998299319727891588211652653
96USH2A10.99628419501575815609215823956, 215823959-215823960, 215914842-215914843, 215916519-215916530, 215916559-215916562, 215916566-215916567, 215916570, 215916584-215916587, 215916597-215916602, 215916606-215916608, 215916637, 215916663, 216051183, 216061806-216061807, 216061857-216061859, 216251498, 216363579, 216496863, 216496872, 216496893, 216496897, 216595471-216595477
97LBR10.997835497835541848225600159-225600161, 225607468
98PSEN210.97327394209354361347227071432, 227071475-227071502, 227071522-227071528
99ADCK310.9958847736625581944227152821, 227152826, 227169787-227169790, 227171802-227171803
100GJC210.1984848484848510581320228345460-228345488, 228345508-228345547, 228345557-228345765, 228345783-228345884, 228345899-228345960, 228345971, 228345985, 228345990, 228346002-228346183, 228346186-228346190, 228346211, 228346214, 228346217, 228346229-228346263, 228346277-228346302, 228346331-228346667, 228346684-228346688, 228346692-228346696, 228346702, 228346709-228346713, 228346725-228346728, 228346747-228346751
101ACTA110.880952380952381351134229567547, 229567562, 229567805-229567811, 229567827-229567879, 229567885-229567932, 229568017-229568021, 229568033, 229568058-229568060, 229568082, 229568086, 229568400-229568411, 229568797-229568798
102AGT10.9958847736625561458230845788-230845789, 230845983, 230846010-230846012
103LYST10.992284762405758811406235866137-235866143, 235875433, 235897870-235897873, 235897876, 235897930-235897959, 235907454-235907457, 235922371, 235922374-235922375, 235933528-235933547, 235969054, 235969196, 235972449, 235973059-235973071, 235973697-235973698
104EDARADD10.986111111111119648236645922-236645930
105ACTN210.944878957169461482685236849974-236850099, 236908038-236908040, 236917287-236917305
106MTR10.98894154818325423798236959021, 236959026, 236959032, 237013678-237013680, 237024542-237024554, 237057692-237057699, 237058737-237058748, 237060942-237060944
107RYR210.9887949543746616714904237205822-237205869, 237729869, 237729873-237729883, 237791285-237791286, 237796897, 237801755-237801756, 237821247-237821281, 237821288-237821322, 237872307-237872309, 237881770, 237881776, 237881779-237881784, 237881787-237881805, 237942010-237942011
108FH10.99347684279191101533241669378, 241672049-241672051, 241672054, 241672061, 241676923, 241682952-241682954
109NLRP310.99646415943427113111247582130, 247582227, 247582248, 247588135, 247597485-247597491
110NET1100.94639865996659617915454682-5454736, 5454747-5454783, 5497022-5497025
111GATA3100.9033707865168512913358097640-8097682, 8097700-8097731, 8097789-8097802, 8097825-8097851, 8100716, 8100719-8100720, 8100724-8100733
112OPTN100.9682814302191555173413151181-13151227, 13151242-13151248, 13174135
113PHYH100.9616519174041339101713341968-13341988, 13342019-13342027, 13342032, 13342035-13342042
114DCLRE1C100.9995189995191207914981850
115CUBN100.99448123620309601087216882348, 16882375, 16990544-16990549, 17032474-17032475, 17088057-17088083, 17142022, 17142032-17142042, 17142049, 17142061, 17142064, 17142090-17142096, 17151705
116PTF1A100.2776089159067971398723481460-23481627, 23481641-23482168, 23482235-23482243, 23482759-23482764, 23482768, 23482775
117MYO3A100.998969284683575485126241043, 26446284-26446286, 26491930
118PDSS1100.91746794871795103124826986661-26986748, 26986756-26986768, 26994247, 26994292
119MASTL100.999241562381492263727448598, 27459764
120RET100.9736920777279588334543572707-43572779, 43595968-43595970, 43596117-43596124, 43600572, 43600599-43600601
121ERCC6100.985943775100463448250669539-50669553, 50681012, 50732787, 50740796-50740841
122CHAT100.91099243435692200224750822268-50822433, 50822451-50822453, 50822457-50822463, 50822473-50822483, 50822486-50822487, 50822490, 50822498-50822500, 50822507, 50827810-50827811, 50835781, 50857576, 50857603, 50872823
123MBL2100.982597054886211374754529037-54529048, 54531310
124PCDH15100.9882832399388769588955587177-55587178, 55587190, 55587193-55587194, 55587200-55587201, 55587235-55587274, 55826517-55826523, 55955477-55955478, 55955481-55955482, 56129003, 56138630, 56138633-56138634, 56138638, 56138659-56138664
125EGR2100.9776380153738632143164573004-64573007, 64573016, 64573475-64573483, 64573486-64573503
126PRF1100.9922062350119913166872358428, 72358431, 72360371-72360378, 72360399-72360401
127PCBD1100.99047619047619331572648288-72648290
128SLC29A3100.985994397759120142873079067, 73111477-73111495
129CDH23100.99114956245028891005673375296-73375298, 73464764-73464799, 73501465-73501471, 73537497-73537526, 73565727, 73565739, 73565750-73565754, 73565966, 73566036-73566037, 73573104, 73574845, 73574848
130PSAP100.996190476190486157573587854-73587859
131VCL100.96886930983847106340575757966-75757968, 75758001-75758066, 75758091-75758096, 75758100-75758101, 75758116-75758117, 75758119-75758133, 75854085, 75854115-75854121, 75860845, 75864931, 75873964, 75873968
132MAT1A100.993265993265998118882043774, 82043788-82043794
133LDB3100.9752747252747354218488476139-88476143, 88476147-88476169, 88476177-88476179, 88476194, 88476234-88476244, 88476268-88476270, 88476274, 88476283-88476287, 88476409, 88476492
134GLUD1100.7298747763864453167788834319, 88836362-88836368, 88854082-88854526
135LIPA100.9891666666666713120090974617-90974619, 90974622, 90988075-90988080, 90988095, 91007339, 91007347
136ANKRD1100.983333333333331696092675622-92675625, 92675629, 92675633-92675634, 92678656, 92678699, 92678939, 92678945, 92679016-92679020
137PLCE1100.999565783760313690995987135, 96022320, 96076372
138ZFYVE27100.995954692556635123699504529, 99512831-99512832, 99512835, 99512853
139HPS1100.97815764482431462106100177362-100177399, 100183547, 100183561-100183566, 100190940
140ABCC2100.999784389823214638101559124
141PAX2100.98152424942263241299102587333-102587334, 102587339-102587360
142C10orf2100.9995133819951312055102749423
143FBXW4100.846650524616631901239103371136, 103371456-103371458, 103454142-103454143, 103454146, 103454149-103454155, 103454158-103454187, 103454193-103454196, 103454207-103454273, 103454293-103454348, 103454367-103454385
144HPS6100.779209621993135142328103825232-103825596, 103825616, 103825621, 103825637, 103825641, 103825645, 103825648-103825657, 103825666-103825668, 103825715, 103825744, 103825759-103825799, 103825807, 103825810-103825823, 103825841, 103825858, 103826044, 103826065-103826072, 103826157, 103826545, 103826557, 103826664-103826668, 103826782, 103826981-103827027, 103827415, 103827433-103827434, 103827445-103827446, 103827449
145SUFU100.903780068728521401455104263910-104264011, 104264026-104264060, 104309791-104309793
146COL17A1100.98776145972408554494105795283-105795303, 105798182-105798188, 105816790-105816793, 105816810-105816823, 105816833-105816839, 105816916, 105833000
147HABP2100.9964349376114161683115341864-115341868, 115341889
148EMX2100.59420289855072308759119302779-119302984, 119302993-119303004, 119303014-119303056, 119303064-119303072, 119303083-119303120
149BAG3100.877893518518522111728121411188-121411367, 121436733-121436763
150FGFR2100.9991879821356122463123274681-123274682
151ARMS2100.993827160493832324124214498, 124214511
152HTRA1100.720720720720724031443124221169-124221528, 124221544-124221550, 124221564-124221567, 124221572-124221578, 124221582, 124221586, 124221600-124221605, 124221620-124221621, 124221625-124221632, 124266231-124266237
153ACADSB100.97690531177829301299124768577-124768587, 124800745-124800746, 124800840-124800841, 124800843, 124800853, 124810579-124810585, 124810599-124810600, 124810605, 124810608-124810610
154OAT100.9984848484848521320126097198, 126097443
155UROS100.9799498746867216798127477438-127477450, 127477454-127477455, 127477458
156TALDO1110.874753451676531271014747482-747578, 755970-755976, 758965-758977, 763391-763392, 763396, 763399-763401, 763406-763409
157SLC25A22110.8343621399177161972791915-791924, 791932-791936, 792053-792059, 792329-792330, 792594-792602, 792611-792697, 792705-792708, 792714, 792717-792718, 792870-792875, 792879-792880, 792898-792902, 792936, 792941, 792953, 792962, 792965, 794794, 794799-794807, 794891-794895, 794901
158PNPLA2110.687788778877894731515819719-819905, 822017, 823555, 823734-823743, 823775-823778, 823809, 823844-823850, 823998-824012, 824014-824017, 824021-824032, 824094-824114, 824314-824319, 824330-824334, 824337-824338, 824348-824351, 824372-824382, 824410-824420, 824430-824435, 824544-824593, 824602-824685, 824719-824733, 824737, 824766, 824797-824799, 824805-824806, 824810, 824813, 824818, 824821-824826
159CTSD110.8732849071832115712391775035-1775044, 1775065-1775075, 1775224-1775253, 1775328-1775355, 1775361-1775368, 1780201, 1780217, 1785022-1785089
160TNNI2110.85063752276867825491861647-1861674, 1861834-1861842, 1861884, 1862070-1862086, 1862101-1862106, 1862112-1862113, 1862133, 1862138, 1862312, 1862330, 1862333-1862344, 1862362, 1862367, 1862372
161H19110.856209150326815410712017360, 2017400-2017403, 2017522, 2017525-2017527, 2017610, 2017642, 2017748-2017770, 2017782-2017813, 2017820-2017831, 2017841-2017849, 2017853-2017854, 2017996, 2018065-2018100, 2018111-2018130, 2018168, 2018336, 2018344-2018345, 2018357, 2018361-2018363
162IGF2110.744022503516171827112154226, 2154229, 2154251, 2154254, 2154262, 2154265, 2154270, 2154323, 2154326, 2154340, 2154354, 2154363, 2154374-2154381, 2161365-2161526
163TH110.8374603174603225615752187710-2187779, 2187863-2187867, 2187876-2187882, 2187902-2187911, 2187941-2187944, 2187956-2187983, 2187991-2187996, 2188131-2188134, 2188159-2188160, 2189739, 2190909, 2190994-2191050, 2191061, 2191920-2191977, 2191993-2191994
164KCNQ1110.8488429345150230720312466329-2466581, 2466591-2466602, 2466607-2466629, 2466638-2466644, 2466646, 2466649, 2466652-2466654, 2466667, 2593332-2593334, 2869108, 2869135-2869136
165CDKN1C110.291272344900116749512905266-2905306, 2905900-2906356, 2906363-2906365, 2906380-2906388, 2906391-2906447, 2906450-2906451, 2906470-2906474, 2906480-2906483, 2906485-2906490, 2906502, 2906505, 2906508, 2906511-2906516, 2906555-2906596, 2906606-2906642, 2906662, 2906709
166HBD110.9481981981982234445254262-5254271, 5255646-5255658
167SMPD1110.97890295358654018966411871, 6411876, 6411888, 6411911, 6411914-6411915, 6411928-6411936, 6411951, 6411954-6411960, 6412744, 6412748-6412749, 6412762, 6412890-6412893, 6412984-6412988, 6413219-6413221, 6413224
168SBF2110.984144144144148855509838388-9838392, 9838398-9838400, 9838403-9838408, 10013962-10013980, 10315562-10315616
169KCNJ11110.999147485080991117317409326
170ABCC8110.9831436999578680474617419278, 17452436-17452441, 17485062-17485066, 17498176-17498179, 17498190, 17498194, 17498231-17498239, 17498250-17498253, 17498275-17498323
171USH1C110.92111111111111213270017531106-17531113, 17531116, 17531119, 17531123-17531133, 17531139-17531140, 17531151-17531216, 17531225-17531345, 17548772-17548774
172LDHA110.957957957957964299918418442, 18422424-18422464
173SLC6A5110.9824561403508842239420622734, 20622758, 20622798, 20622816-20622817, 20622868-20622869, 20622932-20622933, 20623003, 20623016-20623017, 20623023, 20623026-20623046, 20629187-20629194
174ANO5110.9810357403355252274222276984-22276985, 22276992, 22277003-22277040, 22277058-22277068
175FANCF110.9786666666666724112522646761-22646764, 22646782-22646786, 22646824, 22646834-22646836, 22646844-22646851, 22647243-22647245
176PAX6110.9590228526398752126931811482-31811487, 31824288, 31824323-31824360, 31824376-31824382
177WT1110.75289575289575384155432449519, 32449522-32449523, 32456344-32456346, 32456355, 32456363, 32456373-32456376, 32456449-32456460, 32456463, 32456503-32456522, 32456531-32456536, 32456546-32456601, 32456615-32456891
178PDHX110.986719787516620150634938207, 34938210, 34938218-34938223, 35013884-35013895
179RAG1110.99776500638577313236594924, 36594936, 36595071, 36596339-36596342
180RAG2110.994949494949498158436614150-36614157
181ALX4110.81715210355987226123644286435, 44331147-44331183, 44331228-44331261, 44331268-44331317, 44331360-44331413, 44331540-44331574, 44331587-44331601
182SLC35C1110.9687533105645827424, 45827428-45827433, 45827614, 45827627-45827629, 45827808, 45827812, 45827824, 45827840-45827852, 45827861-45827866
183PEX16110.9510086455331451104145932483-45932513, 45935428-45935436, 45939279-45939289
184F2110.997324772605675186946745002-46745005, 46745012
185DDB2110.9657320872274144128447236765-47236808
186MADD110.9927184466019436494447307086-47307116, 47311452-47311456
187MYBPC3110.9968627450980412382547365152-47365159, 47371574-47371577
188SLC39A13110.9811827956989221111647431757, 47431761, 47431775, 47433911, 47433916-47433930, 47433936, 47433939
189RAPSN110.9652945924132443123947460359, 47460370, 47460406-47460408, 47460411-47460418, 47460422-47460429, 47460449-47460455, 47464266, 47464269-47464275, 47464279, 47464291-47464294, 47469520, 47469524
190NDUFS3110.99874213836478179547600867
191SERPING1110.9660678642714651150357365744-57365794
192BEST1110.9670079635949958175861719339, 61719370, 61723219, 61723226-61723229, 61723251-61723283, 61723301-61723318
193ROM1110.9393939393939464105662380754-62380803, 62380821-62380830, 62381052, 62381084, 62381087-62381088
194SLC22A12110.9753309265944641166264367161-64367173, 64367248-64367251, 64367254-64367257, 64367261, 64367270-64367281, 64367304-64367309, 64367360
195PYGM110.9924871490707819252964521044, 64521058, 64521112, 64521131, 64527141-64527149, 64527155, 64527158-64527160, 64527163-64527164
196MEN1110.9940476190476211184864572127, 64572185, 64572189, 64573154, 64577526-64577532
197RNASEH2C110.933333333333333349565487854-65487858, 65487862, 65487867-65487872, 65488099, 65488106, 65488174, 65488177, 65488183, 65488189-65488196, 65488217-65488223, 65488227
198EFEMP2110.9797297297297327133265639794-65639820
199CST6110.837777777777787345065779516-65779532, 65779541-65779547, 65779560, 65779567-65779572, 65779585-65779590, 65779598, 65779630, 65779649-65779680, 65779749, 65780418
200SPTBN2110.97797295413356158717366453345-66453349, 66453358, 66453362, 66453373-66453375, 66453478, 66453481, 66455057, 66455339-66455344, 66455349-66455365, 66455731-66455734, 66457709-66457710, 66457715-66457724, 66457730-66457734, 66458814, 66458834-66458840, 66458845, 66458859-66458869, 66458876, 66458879-66458880, 66460477, 66460745-66460747, 66468221, 66468305-66468312, 66468708-66468729, 66468740-66468748, 66472069-66472073, 66472517-66472527, 66472583-66472584, 66472603, 66472609-66472614, 66472621, 66472761, 66472847-66472850, 66473305, 66475127, 66475737
201PC110.9802092168504470353766618274-66618275, 66618375-66618383, 66620049, 66620098, 66633668-66633671, 66633675, 66633689-66633698, 66633701, 66633757-66633769, 66633814-66633818, 66639158-66639180
202CABP4110.993961352657582867225898-67225899, 67225904, 67225912, 67225916
203AIP110.955689828801614499367256809-67256824, 67257559-67257578, 67257799, 67257815, 67257820, 67257823, 67257835, 67257841-67257842, 67258355
204NDUFS8110.98736176935229863367800724-67800731
205TCIRG1110.985158443642237249367808828, 67810131, 67810170, 67810245-67810250, 67810256, 67810933-67810935, 67810948, 67810952, 67810960-67810964, 67811118-67811120, 67811652, 67816557-67816563, 67816567, 67817143, 67817235, 67817238-67817240
206LRP5110.97215346534653135484868080183-68080273, 68115694-68115699, 68115706, 68131218-68131219, 68131222, 68131332, 68131335-68131339, 68133136-68133138, 68133141, 68133164-68133170, 68181438-68181440, 68192690, 68207296, 68207339-68207340, 68207343-68207351, 68216527
207CPT1A110.9896640826873424232268527706, 68527722-68527726, 68527729-68527730, 68527738, 68527750-68527751, 68527754-68527758, 68552324, 68571473-68571479
208IGHMBP2110.9936284372904119298268671477, 68678914, 68682409, 68682433, 68682453-68682455, 68704341, 68704528-68704535, 68704538-68704540
209DHCR7110.9698879551820743142871146431-71146437, 71146478, 71146484-71146486, 71146571-71146572, 71146577-71146584, 71146663-71146672, 71146677, 71146778, 71146785-71146789, 71146830-71146833, 71146838
210LRTOMT110.982876712328771587671819749-71819752, 71819772-71819775, 71819780, 71819784, 71819802-71819806
211MYO7A110.999398315282794664876858910, 76922282-76922283, 76922295
212ALG8110.998734977862112158177812239-77812240
213FZD4110.9677819083023552161486665850, 86665904-86665907, 86665918-86665927, 86666020-86666029, 86666032, 86666081, 86666089-86666091, 86666094-86666114, 86666122
214TYR110.993710691823910159088911146, 88961096-88961097, 89028407, 89028410-89028415
215MTMR2110.9932712215320913193295657054-95657055, 95657087-95657094, 95657097, 95657105, 95657111
216TRPC6110.99141630901288242796101375316-101375319, 101454158, 101454170-101454180, 101454184-101454186, 101454189-101454192, 101454218
217DYNC2H1110.9830822711471621912945102991473, 102991476, 102991480, 102991497, 102991501-102991504, 102991509-102991511, 102991515-102991519, 102991675, 103029524, 103033871-103033876, 103040887-103040902, 103040972-103040980, 103043818-103043830, 103043841, 103043897-103043901, 103043903-103043905, 103043920-103043931, 103044024-103044026, 103052517-103052518, 103052537-103052540, 103057089, 103062255-103062291, 103062304-103062315, 103062979, 103062988, 103070104, 103070107-103070109, 103082532-103082559, 103092814-103092822, 103106437, 103106452-103106465, 103106475, 103107159, 103107201-103107208, 103126924, 103130682-103130685, 103157043-103157045, 103157112
218ACAT1110.9961059190031251284107992346, 107992359, 107992363, 108014714, 108014717
219ATM110.99225820521208719171108123576, 108124622-108124634, 108124746, 108124749-108124751, 108124766, 108126974, 108127009, 108188175-108188183, 108196071, 108196194-108196231, 108202640, 108224542
220RDX110.9988584474885821752110106886, 110108292
221ALG9110.94880174291939941836111742079-111742093, 111742100-111742145, 111742147-111742167, 111742171-111742172, 111742177, 111742181-111742187, 111742192-111742193
222DLAT110.99279835390947141944111896401-111896403, 111899609-111899613, 111909975-111909980
223SDHD110.997916666666671480111959622
224PTS110.997716894977171438112097168
225APOA1110.8893034825870689804116706604-116706617, 116706733-116706756, 116706771-116706812, 116706889-116706895, 116707066, 116707070
226FXYD2110.963470319634716438117693250-117693252, 117693257-117693269
227SCN4B110.998544395924311687118023362
228SLC37A4110.9990636704119911068118897793
229DPAGT1110.9967400162999241227118971359-118971362
230TECTA110.9998453209590116465121016764
231ROBO3110.95770247536651764161124735617, 124738748-124738750, 124738871-124738876, 124738928-124738936, 124742837, 124744750-124744751, 124745547, 124745553, 124745573, 124745907-124745952, 124745969-124745970, 124745974, 124745982-124745983, 124745998-124746000, 124746198, 124746211-124746222, 124746238-124746283, 124746291-124746322, 124749153-124749157, 124749437
232ACAD8110.98878205128205141248134123508, 134123520, 134123527-134123528, 134123548-134123551, 134123553, 134123555, 134123558, 134123568-134123569, 134123580
233WNK1120.978458525667931547149862736-862739, 862746-862747, 862787-862794, 862817-862904, 862924-862935, 862954-862956, 862965-862966, 862985-862990, 863152, 863263, 968501, 968516-968517, 968520-968523, 988977-988979, 988983, 990912, 994326-994333, 994408, 994757-994759, 995196-995197, 1017844
234CACNA2D4120.992384299941422634141906584, 1906659, 1906662, 1906679-1906681, 1909211-1909217, 1994225-1994231, 2027540, 2027545-2027546, 2027551-2027553
235CACNA1C120.987197073616838465612162734-2162740, 2224474, 2224478-2224479, 2622084-2622090, 2760881, 2760884, 2788665, 2791770, 2791827, 2791841, 2794934-2794940, 2797847-2797850, 2797893-2797899, 2797921-2797922, 2797944, 2800169, 2800267, 2800277-2800314
236KCNA1120.947580645161297814885020546-5020562, 5020577, 5020580, 5020585-5020586, 5020592-5020595, 5020621-5020629, 5020634-5020635, 5020647, 5020686-5020687, 5020691-5020696, 5020710, 5020713, 5020727-5020731, 5020737, 5020839-5020863
237VWF120.9795072257758817384426103119, 6122701-6122702, 6122714, 6122721-6122723, 6127940-6127946, 6128784-6128790, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6155909-6155911, 6155914, 6166023-6166043, 6166049, 6166052, 6166055, 6166074-6166122, 6166164, 6166171, 6166185, 6166197, 6166213, 6166231, 6166236-6166238
238TNFRSF1A120.8728070175438617413686438516-6438520, 6438545, 6438572-6438574, 6438578-6438580, 6438595-6438651, 6438666-6438691, 6438700-6438748, 6438764-6438788, 6450950-6450954
239SCNN1A120.9506172839506210821876457045, 6457054, 6457077, 6472610-6472633, 6472644-6472654, 6472681, 6472687, 6472700, 6472705-6472712, 6472732-6472755, 6472768-6472779, 6483822-6483830, 6483835-6483839, 6483846-6483852, 6483855-6483856
240TPI1120.846666666666671157506976731-6976845
241ATN1120.9409459837671421135737043376-7043378, 7043381, 7043385, 7043432, 7045597-7045623, 7045888-7045942, 7045953-7045978, 7046367-7046370, 7046404-7046419, 7046517, 7046520, 7046531, 7046596-7046602, 7046607, 7046611, 7046712-7046714, 7046718-7046719, 7046722-7046724, 7047132-7047148, 7048049-7048051, 7050631-7050667
242AICDA120.9715242881072175978756880-8756887, 8756909-8756912, 8757853-8757856, 8757882
243GYS2120.999526515151521211221712059
244ABCC9120.9911827956989241465021971140-21971178, 22015920, 22025609
245KRAS120.99824561403509157025380257
246DNM1L120.9832654907281837221132832348-32832362, 32832371, 32832382, 32832396-32832399, 32861120-32861131, 32886734, 32890840-32890841, 32890851
247PKP2120.9757358790771761251433049443-33049462, 33049465, 33049473-33049481, 33049531-33049535, 33049539, 33049550-33049554, 33049560, 33049564, 33049597, 33049649-33049665
248KIF21A120.9885679903730457498639703511-39703514, 39726731, 39726735, 39726749-39726750, 39726753, 39726756, 39726760-39726761, 39761779, 39836729-39836772
249LRRK2120.9955168776371334758440619053-40619057, 40643700-40643702, 40643705-40643706, 40643715, 40646756-40646763, 40693001-40693007, 40717049-40717050, 40717056, 40717060-40717061, 40717064, 40745465-40745466
250VDR120.993769470404988128448238708-48238714, 48238736
251COL2A1120.9903673835125443446448371170, 48372464-48372466, 48373317-48373318, 48377511, 48380224, 48383550, 48393838, 48398062-48398091, 48398102-48398104
252PFKM120.997012377294077234348534548-48534554
253MLL2120.958890092692916831661449420434-49420435, 49420771-49420778, 49420781-49420790, 49421099, 49424117-49424122, 49425137, 49425776, 49425780, 49425796, 49426465, 49426495, 49426558-49426595, 49426641, 49426644-49426645, 49426677-49426806, 49426868-49426884, 49426906-49426916, 49426927-49426937, 49426967, 49427021-49427062, 49427075-49427079, 49427116-49427144, 49427180-49427228, 49427247-49427269, 49427272-49427276, 49427298-49427304, 49427307-49427308, 49427314-49427319, 49427419, 49427423, 49427508-49427533, 49427586-49427589, 49427597, 49427612, 49427639, 49427642-49427643, 49427674-49427676, 49430992-49431002, 49431287-49431355, 49431513-49431553, 49431740-49431741, 49431837-49431839, 49431844-49431845, 49431855, 49431858, 49431862-49431867, 49433270, 49433273-49433276, 49433317, 49433378-49433381, 49433395, 49434038-49434045, 49434050-49434052, 49434082-49434084, 49434087-49434089, 49434095-49434099, 49434111-49434115, 49434517-49434519, 49434942-49434943, 49434994, 49435072-49435118, 49435151, 49436064-49436065, 49448195
254DHH120.83543240973971196119149483642-49483679, 49483728-49483731, 49483735-49483737, 49483757-49483770, 49483772, 49483793-49483794, 49483802, 49483807, 49483815-49483819, 49483839-49483848, 49483854-49483859, 49483868-49483920, 49483925, 49483931-49483932, 49483950-49483951, 49483957, 49483979-49483988, 49484126, 49484135-49484142, 49488105, 49488189-49488219, 49488238
255TUBA1A120.833333333333337645649522235-49522266, 49522308-49522314, 49522572-49522608
256AQP2120.97181372549022381650349277-50349299
257ACVRL1120.9365079365079496151252307025-52307034, 52307414-52307420, 52307430, 52307444-52307449, 52307452, 52307455-52307459, 52307480-52307484, 52308236, 52308250, 52308262-52308295, 52308363, 52309143, 52312877-52312899
258KRT81120.9525691699604772151852680194, 52680197, 52684012-52684029, 52684899-52684906, 52685067-52685087, 52685168-52685174, 52685177, 52685183-52685193, 52685199, 52685246-52685248
259KRT86120.9698836413415544146152695754, 52695787, 52695880, 52696044-52696051, 52696925-52696934, 52697086, 52699030-52699036, 52699885, 52699888, 52702345-52702351, 52702364-52702369
260KRT83120.9770580296896134148252708597-52708598, 52709816-52709822, 52709849-52709852, 52709880, 52713096-52713100, 52713114-52713116, 52713123-52713128, 52714914-52714917, 52714923, 52715034
261KRT6B120.9604719764011867169552842733, 52844243, 52844246, 52844265, 52845397-52845410, 52845528-52845534, 52845597-52845605, 52845662-52845686, 52845797-52845804
262KRT6C120.88731563421829191169552862863, 52862866, 52863211-52863213, 52863533-52863539, 52864945-52864951, 52865915-52865928, 52866012-52866013, 52866016, 52866019, 52866022-52866031, 52866060, 52867102-52867129, 52867147-52867193, 52867257-52867267, 52867321-52867345, 52867456-52867487
263KRT6A120.9828908554572329169552881508-52881511, 52882206-52882207, 52882210, 52886553-52886559, 52886601, 52886772-52886778, 52886908-52886914
264KRT5120.9447264523406798177352908735-52908736, 52908768, 52908826-52908849, 52908869-52908908, 52908919-52908923, 52908926-52908929, 52908939, 52908942, 52908945-52908949, 52908965, 52908968, 52908993-52908996, 52912893, 52912900-52912902, 52912905-52912906, 52912915, 52912929-52912930
265KRT2120.997395833333335192053039080, 53040621, 53040626, 53040645, 53045860
266KRT1120.9803617571059438193553069223-53069243, 53070145, 53070148-53070163
267ITGA7120.9915353181552829342656078899, 56082675, 56086670, 56086694-56086700, 56086706-56086714, 56088562-56088570, 56101462
268RDH5120.985370950888191495756114969-56114970, 56115172-56115181, 56117768-56117769
269SUOX120.9890109890109918163856396006-56396022, 56397719
270MYO1A120.998722860791834313257431768, 57431788, 57431802-57431803
271KIF5A120.9925782510487323309957944056-57944061, 57944065-57944074, 57944088-57944090, 57944097, 57944165-57944167
272CYP27B1120.9921414538310412152758158187-58158194, 58159152, 58159209-58159210, 58159813
273TSFM120.9918200408998897858176592-58176593, 58176595, 58176627-58176628, 58176631, 58190180, 58190297
274GNS120.9698613622664350165965138589-65138597, 65141671-65141672, 65152965-65152972, 65152982-65152990, 65153004-65153025
275LEMD3120.88011695906433328273665563384, 65563390, 65563397-65563401, 65563404, 65563407-65563408, 65563422-65563440, 65563464-65563489, 65563503, 65563508-65563515, 65563521-65563524, 65563585, 65563605, 65563609, 65563612-65563635, 65563640, 65563651-65563677, 65563723, 65563726-65563728, 65563738-65563795, 65563804, 65563819-65563823, 65563833-65563849, 65563862-65563924, 65563935, 65563966-65563974, 65563980-65563981, 65563985-65563987, 65564080, 65564373-65564376, 65609789, 65612364-65612399
276BBS10120.999539594843461217276742081
277CEP290120.9897849462365676744088465627, 88471592, 88472953-88472964, 88472967, 88472970-88472971, 88472996, 88481557-88481565, 88505498-88505508, 88512308-88512315, 88519062, 88519077-88519080, 88520130, 88522723, 88533281, 88534988-88535009
278HAL120.9746707193515750197496380872-96380911, 96380958, 96380961, 96389504, 96389627-96389633
279TMPO120.94340527577938118208598909688-98909691, 98909709, 98909722-98909751, 98909755, 98909761-98909768, 98909771, 98909786-98909787, 98909790-98909809, 98909848-98909850, 98909854-98909866, 98909886-98909901, 98909909-98909924, 98928014-98928016
280SLC25A3120.997245179063363108998987869-98987871
281SLC17A8120.99435028248588101770100774560-100774567, 100774573, 100797880
282PAH120.97350993377483361359103288614-103288649
283UNG120.917197452229378942109535524-109535577, 109535599-109535616, 109536345, 109536355-109536359
284MMAB120.998671978751661753110011214
285TRPV4120.99579510703364112616110238474-110238481, 110252385-110252387
286ATP2A2120.96228827101311183129110719595-110719712
287ATXN2120.821156773211577053942111908362-111908366, 111908509, 112036588-112037250, 112037258-112037284, 112037306-112037314
288PTPN11120.98484848484848271782112856916-112856929, 112891105-112891111, 112893775, 112893784-112893788
289TBX5120.96146435452794601557114793487, 114793490, 114804012-114804023, 114804115-114804117, 114804120-114804126, 114804137-114804151, 114841604, 114841678-114841697
290TBX3120.863799283154123042232115109669-115109689, 115109851-115109854, 115109881, 115109883, 115109892-115109893, 115109902-115109905, 115110043, 115111974-115111982, 115111990-115111997, 115112010, 115112027-115112062, 115112076-115112078, 115112085-115112095, 115112099-115112104, 115112108, 115112142, 115112147-115112152, 115112225-115112227, 115112232-115112253, 115112275, 115112296, 115112299-115112303, 115112318-115112330, 115112353-115112403, 115112442-115112444, 115112449-115112458, 115112464, 115112469-115112473, 115112505, 115112515-115112516, 115112536-115112573, 115112583-115112613, 115118773
291ACADS120.98950766747377131239121163710-121163715, 121163717, 121163721-121163725, 121176674
292HNF1A120.96571729957806651896121416589, 121416598, 121416606-121416607, 121416615-121416617, 121416622, 121416771, 121434153-121434177, 121434453, 121435284, 121437286-121437312, 121437382, 121437411
293ATP6V0A2120.99260987942435192571124197138-124197152, 124197167-124197170
294PUS1120.866822429906541711284132414268-132414341, 132414452-132414533, 132425993-132425999, 132426003-132426004, 132426007-132426009, 132426015-132426017
295GJB6130.99618320610687378620797346-20797348
296SGCG130.99200913242009787623777836-23777842
297SACS130.989010189228531511374023949258-23949408
298CENPJ130.9965148120487914401725457481-25457486, 25480462-25480469
299PDX1130.5633802816901437285228494306-28494308, 28494312, 28494316, 28494351, 28494357-28494359, 28494367-28494371, 28494398-28494421, 28494428-28494463, 28494477-28494514, 28494535-28494571, 28494635, 28498393-28498414, 28498420-28498440, 28498503-28498535, 28498578, 28498603-28498662, 28498671-28498735, 28498760-28498767, 28498781-28498782, 28498786-28498791, 28498800-28498802, 28498808
300B3GALTL130.9532398129592570149731774222-31774291
301BRCA2130.9994150336355761025732912353-32912356, 32912360, 32971138
302SPG20130.998000999500254200136909962-36909965
303FREM2130.9962145110410136951039261576-39261580, 39261585, 39261609-39261615, 39261630-39261633, 39261637-39261644, 39261709, 39261909-39261913, 39261919, 39261935, 39261942, 39261952, 39261958
304SLC25A15130.99889624724062190641373403
305TNFSF11130.965408805031453395443148449-43148450, 43148455, 43148472-43148473, 43148490-43148508, 43148531-43148533, 43148540-43148541, 43148555-43148556, 43148565-43148566
306SUCLA2130.9619252873563253139248547467, 48547513-48547517, 48570984-48571026, 48571048, 48571061-48571062, 48575345
307RB1130.95191962683889134278748878059-48878185, 48947583-48947589
308RNASEH2B130.931842385516516493951484213-51484276
309ATP7B130.999090495679854439852518287-52518288, 52518291, 52518380
310CLN5130.928104575163488122477566095-77566114, 77566126-77566135, 77566158, 77566192-77566194, 77566262-77566268, 77566274-77566316, 77566334-77566336, 77566405
311EDNRB130.998495109104592132978492678-78492679
312SLITRK1130.997608799617415209184454002-84454004, 84454007-84454008
313ZIC2130.475922451532218381599100634319-100634830, 100634865, 100634875, 100634927, 100635001-100635049, 100635058-100635064, 100635196, 100637344-100637345, 100637348, 100637577-100637604, 100637615-100637657, 100637671-100637677, 100637697-100637868, 100637887-100637889, 100637892, 100637896, 100637902-100637909
314PCCA130.96936442615455672187100741375-100741390, 100741396-100741401, 100741430-100741467, 100861598, 100909872-100909873, 100909912-100909915
315ERCC5130.99056381221986404239103510668, 103514595-103514597, 103514601, 103515167-103515185, 103515391-103515393, 103515396-103515399, 103518146-103518147, 103518695-103518701
316COL4A1130.98522954091816745010110804834, 110817250-110817251, 110822905, 110864246-110864250, 110864254-110864255, 110864258, 110959313-110959374
317F7130.865917602996251791335113765004-113765164, 113770006-113770008, 113772948-113772951, 113772961-113772966, 113772982-113772983, 113773037, 113773313, 113773316
318F10130.98364008179959241467113777170-113777190, 113798228, 113798231-113798232
319GRK1130.98463356973995261692114321810-114321811, 114321936, 114322133-114322135, 114322148, 114325862-114325872, 114325883-114325886, 114325894, 114325897, 114325970-114325971
320TEP1140.9959411466260832788420840929-20840931, 20850148-20850149, 20850473, 20851743, 20851763-20851786, 20854726
321RPGRIP1140.99663299663313386121769150-21769157, 21769160-21769164
322SLC7A7140.9882812518153623282110-23282114, 23282126-23282138
323PABPN1140.6188925081433235192123790679-23791029
324MYH6140.9974226804123715582023855240, 23855248, 23858212-23858213, 23858216-23858217, 23858231, 23858234, 23858237-23858238, 23858250-23858254
325MYH7140.9843319559228791580823883283-23883288, 23884634-23884637, 23884947-23884949, 23885516-23885518, 23886744-23886765, 23886887-23886889, 23887510-23887516, 23887527-23887539, 23887542, 23887562-23887584, 23887588-23887589, 23897829, 23898490-23898492
326NRL140.7184873949579820171424550502, 24550515, 24550554-24550594, 24550611-24550620, 24550627-24550704, 24550706-24550775
327PCK2140.997399895995845192324566298, 24566306, 24566309, 24568261-24568262
328TINF2140.9926253687315610135624711491-24711498, 24711502-24711503
329TGM1140.995925020374910245424727502, 24727508-24727510, 24727520-24727523, 24727528, 24727531
330FOXG1140.66190476190476497147029236486-29236971, 29237085, 29237262, 29237320, 29237334-29237335, 29237341, 29237607-29237608, 29237628, 29237636-29237637
331COCH140.996370235934666165331344262-31344267
332CFL2140.9940119760479350135183744-35183746
333NKX2-1140.50580431177446596120636986521, 36986531, 36986545, 36986578-36986595, 36986602-36986622, 36986629-36986637, 36986661-36986786, 36986801-36986802, 36986808, 36986814-36986843, 36986862-36986864, 36986866, 36986875-36986893, 36986897-36986900, 36986915-36986922, 36986963-36986999, 36987015-36987037, 36987057-36987098, 36987118-36987158, 36988190-36988231, 36988240-36988246, 36988269-36988287, 36988290-36988291, 36988296-36988303, 36988325, 36988345-36988349, 36988368-36988409, 36988415-36988430, 36988439, 36988444, 36988456, 36988462-36988464, 36989258-36989291, 36989303-36989328
334PAX9140.99902534113061102637132418
335FANCM140.997722466243714614745605364, 45605367-45605374, 45605380, 45650858, 45667872, 45667889, 45667980
336C14orf104140.81105807478123475251450100604, 50100610, 50100615, 50100624, 50100679, 50100683, 50100691-50100699, 50100717-50100726, 50100747-50100758, 50100774-50100776, 50100780-50100849, 50100872-50100933, 50100936, 50100940-50100943, 50100955, 50100957-50100962, 50100970-50100972, 50100979-50100984, 50100993, 50101007-50101011, 50101020-50101062, 50101083-50101088, 50101094, 50101097-50101123, 50101138, 50101142-50101146, 50101149-50101152, 50101164, 50101169, 50101214, 50101217-50101227, 50101238, 50101252-50101255, 50101258, 50101266-50101269, 50101330-50101374, 50101377-50101388, 50101394, 50101407, 50101415-50101416, 50101457-50101467, 50101481-50101490, 50101519, 50101529-50101586, 50101607-50101622, 50101682, 50101743-50101749
337L2HGDH140.9892241379310315139250778780-50778794
338ATL1140.997593261131174166251098965-51098968
339PYGL140.9921383647798720254451410933-51410942, 51410946-51410954, 51410982
340GCH1140.6772908366533924375355369086-55369118, 55369131-55369157, 55369199-55369381
341OTX2140.99888143176734189457268889
342SIX6140.96086369770582974160976377-60976383, 60976533, 60977828-60977844, 60977864-60977866, 60977871
343SIX1140.905263157894748185561115425-61115439, 61115500, 61115503-61115505, 61115560, 61115563-61115568, 61115576-61115585, 61115591-61115593, 61115611, 61115725-61115751, 61115790-61115803
344SYNE2140.99565720903301902072464483265-64483277, 64483280-64483282, 64518487, 64518608-64518611, 64518615-64518624, 64518635, 64634288-64634290, 64676688, 64676759, 64676763, 64676773, 64676782-64676802, 64676811-64676820, 64676823-64676828, 64692049-64692060, 64692111-64692112
345ZFYVE26140.9887139107611586762068215259-68215261, 68215298-68215304, 68241751-68241755, 68242683-68242693, 68274188-68274215, 68274493-68274508, 68274547-68274561, 68282649
346PSEN1140.999287749287751140473678579
347VSX2140.83333333333333181108674706289-74706290, 74706311-74706345, 74706370-74706397, 74706408-74706409, 74706412, 74706415-74706467, 74706473-74706475, 74706524-74706571, 74706598, 74706616-74706618, 74726313-74726315, 74726318-74726319
348EIF2B2140.9876893939393913105675471519, 75471533, 75471537-75471539, 75471544-75471549, 75471555, 75471596
349MLH3140.999541494727192436275506614, 75506682
350FLVCR2140.9879822896900719158176045449, 76045497-76045514
351TGFB3140.999192897497981123976447202
352ESRRB140.945645055664783152776905767-76905773, 76905808-76905809, 76957954-76957960, 76964608, 76964653-76964687, 76964690-76964701, 76964704-76964705, 76964707-76964723
353POMT2140.94496227252552124225377745191-77745193, 77786799-77786837, 77786847, 77786856, 77786861, 77786864-77786865, 77786868-77786878, 77786888, 77786895-77786897, 77786909-77786912, 77786919, 77786936, 77786963-77787008, 77787014-77787023
354GALC140.94169096209913120205888459332-88459347, 88459355, 88459358-88459389, 88459395-88459435, 88459441-88459445, 88459451-88459475
355SPATA7140.9918180088903911, 88903914-88903917, 88903923, 88904718-88904729
356TTC8140.962532299741658154889337918, 89343661-89343694, 89343704-89343726
357FBLN5140.99777282850783134792349402-92349404
358ATXN3140.9825046040515719108692537351-92537367, 92537377-92537378
359VRK1140.99832073887492119197304107, 97304115
360AMN140.476505139500737131362103390107, 103390118, 103390140-103390156, 103394823-103394824, 103394828-103394834, 103395121-103395129, 103395153-103395187, 103395215, 103395234-103395236, 103395239-103395255, 103395259, 103395262-103395265, 103395288-103395291, 103395458-103395460, 103395471-103395472, 103395490-103395595, 103395765-103395807, 103395823-103395841, 103396004-103396054, 103396273-103396275, 103396289-103396290, 103396297, 103396317-103396335, 103396377-103396411, 103396421-103396423, 103396502-103396664, 103396743-103396824, 103396830, 103396913-103396957, 103396970-103396980, 103396988-103396994, 103397003-103397017
361INF2140.81686873750105167704, 105167721, 105167863, 105167920-105167922, 105167934-105167937, 105167964-105168005, 105168011-105168019, 105169651-105169653, 105169756-105169758, 105170253-105170273, 105172500-105172501, 105173288, 105173596-105173606, 105173611-105173620, 105173640, 105173644-105173650, 105173658-105173735, 105173750-105173752, 105173756-105173778, 105173789-105173794, 105173809-105173811, 105173856-105174158, 105174165, 105174167, 105174176, 105174179, 105174186-105174189, 105174201-105174249, 105174265-105174306, 105174830, 105174896, 105175980-105175985, 105175998, 105176009-105176015, 105177489, 105177496-105177497, 105177500-105177504, 105177507, 105178029-105178031, 105179594-105179617
362NIPA1150.8202020202020217899023086234-23086411
363SNRPN150.99170124481328672325222094, 25222098, 25222102-25222104, 25222964
364UBE3A150.996575342465759262825584324, 25584327, 25616679-25616685
365OCA2150.9920540325784720251728202758, 28202798-28202803, 28234774-28234775, 28234778, 28273134, 28326952, 28326972-28326978, 28326982
366TRPM1150.9968827930174615481231295267, 31320556-31320560, 31320563, 31320629-31320633, 31320637, 31342651-31342652
367SLC12A6150.997972777295117345334527481-34527484, 34532910-34532911, 34549858
368ACTC1150.999118165784831113435086925
369SPRED1150.997003745318354133538614523-38614526
370IVD150.9890710382513714128140698080-40698088, 40699921-40699925
371CHST14150.7763041556145253113140763413-40763589, 40763630-40763637, 40763640-40763641, 40763644, 40763665-40763669, 40763682-40763702, 40763783-40763784, 40763795-40763827, 40763829-40763830, 40763998, 40764157
372CAPN3150.999183006535952244842652047, 42652077
373CDAN1150.86889250814332483368443019896, 43019899, 43021302, 43021307, 43021434, 43021438-43021441, 43021450-43021451, 43021508-43021510, 43023513-43023516, 43024009-43024010, 43026451, 43026468-43026470, 43026475, 43026483, 43026494-43026507, 43027824, 43028511, 43028531, 43028539, 43028571-43028599, 43028605, 43028608-43028613, 43028624-43028627, 43028670-43028978, 43029211-43029300
374TTBK2150.9949129852744319373543067425-43067431, 43067434, 43067445, 43067448-43067449, 43067845-43067850, 43103894, 43103909
375STRC150.92492492492492400532843896211-43896259, 43896296-43896329, 43900150-43900156, 43905049-43905084, 43905277, 43905308-43905309, 43905325-43905358, 43907745-43907751, 43908047-43908082, 43908117, 43908184-43908186, 43908559-43908561, 43909898-43909946, 43910076-43910081, 43910178-43910227, 43910420-43910443, 43910863-43910920
376STRC150.931323283082084159744004765-44004766, 44004770-44004773, 44004787-44004821
377STRC150.92615384615385144195044007207-44007213, 44007509-44007544, 44007579, 44007646-44007648, 44008021-44008023, 44008196, 44009360-44009408, 44009590, 44009603-44009608, 44009611-44009613, 44009638-44009644, 44009651-44009659, 44009672-44009689
378SPG11150.9938625204582745733244858465-44858466, 44888989, 44903156, 44912476-44912487, 44914518, 44955637-44955645, 44955664, 44955671, 44955674, 44955688-44955692, 44955696, 44955700-44955704, 44955709, 44955713, 44955719-44955721
379DUOX2150.94340434689047263464745393014, 45398344-45398372, 45398396, 45398399-45398400, 45399051-45399064, 45401049, 45401052-45401061, 45401072-45401080, 45401097-45401099, 45403336-45403340, 45403354, 45403357, 45403366, 45403584-45403667, 45403673-45403738, 45403768-45403783, 45403989, 45404023-45404024, 45404040-45404041, 45404801-45404803, 45404811-45404821
380GATM150.9536163522012659127245670583-45670588, 45670599-45670651
381FBN1150.9970984215413225861648719848, 48737701, 48766783, 48791182, 48791191-48791202, 48936954-48936962
382CEP152150.9957703927492421496549036516-49036522, 49044619-49044628, 49076170, 49076239-49076241
383TPM1150.99415204678363585563335034, 63336020-63336022, 63336028
384PPIB150.92473118279574965164455100-64455105, 64455113-64455118, 64455120, 64455136-64455138, 64455142-64455162, 64455166-64455177
385CLN6150.900641025641039393668500480-68500485, 68504088-68504089, 68504092-68504093, 68521840-68521922
386NR2E3150.88677536231884125110472103840-72103841, 72103854-72103856, 72103861-72103868, 72103897-72103938, 72104140-72104155, 72104162-72104195, 72104739-72104749, 72104757-72104760, 72105818-72105822
387BBS4150.999358974358971156073029864
388HCN4150.650885935769661261361273614822-73614837, 73614843-73614934, 73614981, 73615016, 73615023-73615036, 73615039, 73615060-73615065, 73615068, 73615072, 73615079-73615089, 73615115-73615121, 73615135-73615179, 73615198-73615310, 73615366-73615369, 73615391-73615425, 73615477-73615503, 73615509, 73615512-73615519, 73615527-73615565, 73615571-73615625, 73615633-73615640, 73615646, 73615648-73615650, 73615715-73615752, 73615797-73615799, 73615873-73615922, 73615978, 73616060-73616068, 73616074-73616078, 73616080-73616081, 73616093, 73616103-73616108, 73616121-73616213, 73616221-73616227, 73616234, 73616237-73616238, 73616242, 73616251, 73616275, 73616281, 73616568-73616569, 73616574-73616575, 73624534-73624535, 73660001, 73660005-73660007, 73660025, 73660074-73660611
389PSTPIP1150.998401278976822125177325272-77325273
390RPS17150.970588235294121240882824436-82824447
391RPS17150.970588235294121240883208779-83208790
392FANCI150.997742663656889398789835919-89835925, 89836211, 89836220
393POLG150.97043010752688110372089876605-89876631, 89876673-89876681, 89876693, 89876786, 89876792, 89876810-89876842, 89876845, 89876848-89876849, 89876851-89876859, 89876908-89876910, 89876914, 89876921-89876934, 89876945-89876952
394MESP2150.70854271356784348119490319609, 90319644-90319646, 90319761, 90319780-90319781, 90319794-90319796, 90319829-90320112, 90320118-90320144, 90320146, 90320149, 90320242-90320243, 90320253-90320258, 90320360-90320366, 90320385-90320391, 90320431-90320433
395BLM150.999294781382233425491337492, 91337498, 91354503
396IGF1R150.97270955165692112410499192811-99192904, 99250834, 99473521-99473534, 99500551-99500553
397HBZ160.32634032634033289429202990-202993, 203891-204095, 204271-204348, 204397-204398
398HBM160.76525821596244100426216012-216046, 216064-216070, 216306-216315, 216333-216342, 216356-216381, 216392, 216398, 216401-216407, 216411-216412, 216605
399HBA2160.75757575757576104429222912-222977, 223192-223229
400GNPTG160.94226579520697539181401967-1402018, 1412282
401CLCN7160.9305210918114116824181497039, 1497048, 1497052, 1497075-1497076, 1497080-1497087, 1497555-1497557, 1500610-1500614, 1500619-1500620, 1500624-1500625, 1500634, 1509181, 1524835-1524975
402IGFALS160.947204968944110219321840631-1840634, 1840645, 1840766-1840769, 1840853, 1840972, 1841001, 1841019, 1841033, 1841115-1841119, 1841152-1841154, 1841210-1841214, 1841232-1841233, 1841239-1841246, 1841250, 1841266, 1841270-1841274, 1841550, 1841795, 1841826-1841847, 1841925-1841928, 1842064-1842072, 1842074, 1842078-1842081, 1842083-1842087, 1842090-1842092, 1842095-1842096, 1842319, 1842322, 1842415, 1842419-1842421
403GFER160.610032362459552416182034220-2034371, 2034385-2034389, 2034392-2034396, 2034399-2034477
404TSC2160.9804572271386410654242103371, 2103381-2103404, 2103408-2103409, 2103415-2103416, 2104409-2104411, 2106645-2106646, 2114381-2114385, 2121851-2121870, 2121878-2121884, 2124361-2124363, 2124366-2124373, 2129342, 2129425, 2130205-2130207, 2133696-2133697, 2133701, 2133797-2133817
405PKD1160.804058240396532530129122139836-2139839, 2139842-2139843, 2139847, 2139874, 2139881, 2139884, 2139907-2139920, 2139926, 2140056, 2140060-2140062, 2140089-2140095, 2140677-2140682, 2140762, 2140791-2140804, 2140895, 2140898-2140900, 2140904, 2140914-2140915, 2140925-2140947, 2140968-2141043, 2141050-2141175, 2141424-2141542, 2141788, 2141801-2141807, 2141816-2141826, 2142128, 2142131, 2142134-2142137, 2147196-2147200, 2147202, 2147221, 2147224-2147229, 2147240-2147242, 2147400, 2147411-2147415, 2147476, 2147940-2147954, 2149666-2149676, 2149862, 2149876, 2149964-2149965, 2150019-2150025, 2150036-2150072, 2150245-2150251, 2150308-2150310, 2150470-2150484, 2150515-2150521, 2152106-2152132, 2152168-2152174, 2152484-2152490, 2153267-2153268, 2153276-2153326, 2153350-2153398, 2153489-2153495, 2153592-2153598, 2153636, 2153655-2153744, 2153753-2153800, 2153834, 2153839, 2153848-2153885, 2154571-2154577, 2154580, 2154594, 2154599-2154643, 2155333-2155367, 2155426, 2156139, 2156251-2156283, 2156427-2156433, 2156459, 2156466, 2156472, 2156477, 2156494-2156533, 2156541-2156547, 2156597, 2156660-2156671, 2156806-2156824, 2158294, 2158304, 2158317, 2158350-2158356, 2158380-2158395, 2158402, 2158405, 2158509-2158546, 2158562-2158566, 2158570-2158572, 2158681, 2158695-2158731, 2158752, 2158763, 2158890-2158926, 2158933, 2158936-2158938, 2158943, 2159043-2159047, 2159093-2159117, 2159170-2159186, 2159226-2159261, 2159435-2159471, 2159580-2159581, 2159642, 2159645-2159652, 2159657, 2159709-2159735, 2159960-2159966, 2160404, 2160718-2160724, 2160753-2160775, 2161233-2161237, 2161241, 2161306-2161334, 2161466-2161475, 2161752-2161753, 2161764-2161765, 2161794-2161837, 2162426, 2163171-2163185, 2164171-2164178, 2164406, 2164461-2164469, 2164472-2164473, 2164476-2164477, 2164700-2164706, 2164805-2164819, 2164914, 2165993-2166000, 2166002, 2166014-2166015, 2166021-2166025, 2166033-2166043, 2166530-2166536, 2166552-2166595, 2166834-2166845, 2166862, 2166915-2166938, 2166975-2167001, 2167589-2167638, 2167671, 2167829-2167856, 2167871-2167881, 2167899-2168003, 2168028-2168075, 2168140-2168221, 2168230-2168260, 2168279, 2168284, 2168287-2168288, 2168306-2168442, 2168701-2168725, 2169115, 2169349-2169379, 2185476-2185690
406ABCA3160.992179863147614051152328409-2328413, 2328422-2328433, 2334332, 2334355-2334358, 2335446-2335448, 2338050-2338051, 2338071, 2338077, 2338082-2338083, 2338118, 2367762, 2369655, 2369658-2369662, 2369666
407MEFV160.9390451832907114323463304209, 3304283-3304284, 3304403-3304412, 3304433-3304453, 3304457, 3304500-3304533, 3304552, 3304555-3304557, 3304582, 3304610-3304636, 3304646-3304649, 3304654, 3304669-3304680, 3304683-3304686, 3304703-3304704, 3304719-3304721, 3304723-3304726, 3304733-3304736, 3304751-3304757, 3304762
408SLX4160.9801998183469610955053632380-3632384, 3632395-3632398, 3632497, 3632503, 3632507, 3632535-3632554, 3632573-3632621, 3639254, 3639787-3639790, 3639797-3639798, 3639804, 3639809, 3639814-3639819, 3639825, 3642814-3642820, 3642824, 3647910, 3647918-3647920
409CREBBP160.9124027834629664273293777719-3777766, 3778305-3778311, 3778403-3778411, 3778420-3778430, 3778434-3778454, 3778457-3778458, 3778464-3778467, 3778563-3778600, 3778630, 3778633-3778638, 3778650, 3778683-3778689, 3778780-3778791, 3778794-3778795, 3778804-3778814, 3778850-3778852, 3778881, 3778899, 3778920-3778983, 3778991-3779026, 3779055, 3779076-3779083, 3779101-3779116, 3779166, 3779176-3779182, 3779186, 3779205-3779209, 3779223-3779229, 3779238-3779306, 3779320-3779354, 3779381-3779387, 3779401-3779402, 3779407, 3779410-3779416, 3779435-3779444, 3779452, 3779455-3779458, 3779464-3779480, 3779485-3779497, 3779533-3779544, 3779626-3779628, 3779711-3779716, 3779758-3779774, 3820578, 3820586-3820594, 3831230, 3900797, 3900801-3900810, 3929833-3929917
410GLIS2160.8965079365079416315754384859-4384861, 4384865, 4384953, 4384968, 4386732-4386734, 4386738, 4386814, 4386818, 4386821-4386823, 4386839, 4386946-4386948, 4386951-4386952, 4386957, 4386960, 4386963, 4386984, 4386999-4387001, 4387034-4387041, 4387044, 4387062, 4387067, 4387071-4387076, 4387088, 4387098-4387106, 4387120-4387145, 4387161-4387206, 4387218-4387224, 4387362-4387364, 4387368-4387377, 4387388-4387401, 4387466, 4387484
411ALG1160.8974910394265214313955121851-5121864, 5121895, 5122008, 5128817, 5128830-5128836, 5128842-5128844, 5128860-5128865, 5130969-5130999, 5131013-5131052, 5134802-5134833, 5134876-5134882
412ABAT160.992681304058551115038870304, 8870309-8870310, 8875169-8875176
413PMM2160.9946018893387347418891740, 8891751-8891752, 8891762
414MYH11160.997979797979812594015811128-15811135, 15811145, 15811165-15811166, 15811186
415ABCC6160.9796099290780192451216251652-16251653, 16251656, 16253433-16253440, 16255351-16255353, 16259518, 16263541-16263558, 16276750-16276753, 16302586, 16313421, 16313509-16313515, 16313789-16313795, 16315525-16315533, 16315637, 16315654, 16315659, 16317265-16317291
416UMOD160.9661986479459265192320344675, 20359571-20359576, 20359779-20359784, 20359811-20359817, 20359853-20359888, 20359986, 20359990-20359993, 20360123, 20360138, 20360141, 20360193
417OTOA160.998830409356734342021696600, 21747633, 21747639, 21747697
418SCNN1G160.9892307692307721195023197690-23197710
419SCNN1B160.9849193967758729192323359945-23359948, 23359981-23359997, 23391891, 23391895-23391899, 23391915, 23391924
420COG7160.999567661046261231323415113
421PALB2160.999438360011232356123640585, 23647642
422CLN3160.9673500379650743131728493461-28493463, 28493467, 28495342-28495349, 28497668-28497674, 28497685-28497708
423TUFM160.9861111111111119136828857410-28857414, 28857421, 28857555-28857563, 28857587-28857590
424ATP2A1160.9773785761809768300628911946-28911952, 28911967-28911968, 28912009, 28912012, 28912022-28912025, 28912090-28912096, 28912110-28912113, 28912142-28912143, 28912151-28912157, 28912164, 28912168-28912169, 28914373, 28914644, 28914693-28914716, 28914757-28914760
425CD19160.997007779772595167128943769, 28943772-28943774, 28948368
426PHKG2160.9033579033579118122130760142-30760236, 30764722-30764738, 30768329-30768334
427VKORC1160.99390243902439349231104735-31104736, 31105975
428FUS160.9487666034155681158131195269-31195272, 31195276, 31195279, 31195282, 31195300-31195303, 31195313-31195321, 31195585, 31195685-31195717, 31196406-31196413, 31196426-31196441, 31202355-31202357
429SLC5A2160.94452699356117112201931499943-31499961, 31500028-31500044, 31500047, 31500051-31500056, 31500071-31500093, 31500315, 31500318, 31500444-31500477, 31501435-31501440, 31501750, 31501767-31501769
430PHKB160.999085923217553328247533776, 47545619-47545620
431NOD2160.9772654498879371312350733453-50733457, 50744747-50744748, 50745066, 50745097, 50745222-50745230, 50745805-50745807, 50745844-50745893
432CYLD160.997204751921738286250785702-50785704, 50785741-50785742, 50825511, 50826564, 50826567
433SALL1160.95522012578616178397551175406-51175454, 51175640-51175734, 51185077-51185086, 51185093-51185116
434RPGRIP1L160.9888551165146944394853672228-53672230, 53672249, 53672253, 53672298-53672307, 53672318-53672323, 53679672-53679679, 53682884-53682890, 53691440, 53691443-53691449
435MMP2160.9566313666162486198355513399-55513401, 55513418-55513466, 55513473-55513484, 55513493, 55513522-55513539, 55525741, 55530869, 55530879
436SLC12A3160.9770449401875271309356899184-56899228, 56899259-56899269, 56901096-56901107, 56913504, 56921856, 56921928
437COQ9160.955067920585164395757481418, 57481427-57481467, 57485060
438GPR56160.997093023255816206457687231, 57689439-57689442, 57689883
439CNGB1160.9818956336528268375657918178-57918206, 57918212-57918246, 57931438, 57957198, 57957201-57957202
440TK2160.938311688311695792466583841-66583881, 66583903, 66583906, 66583912, 66584032, 66584041-66584046, 66584058-66584063
441HSD11B2160.69211822660099375121867465152-67465348, 67465360-67465367, 67465372, 67465377-67465382, 67465385-67465387, 67465396-67465402, 67469971-67470045, 67470225-67470234, 67470254-67470261, 67470272-67470281, 67470289, 67470501-67470507, 67470510-67470511, 67470515-67470543, 67470677, 67470680-67470681, 67470685-67470689, 67470898, 67470901, 67470905
442LCAT160.9417989417989477132367973979, 67976473-67976488, 67976874-67976879, 67976975, 67976992, 67976995-67977023, 67977032-67977036, 67977047-67977062, 67977988-67977989
443CDH3160.9779116465863555249068679550-68679591, 68679630-68679634, 68732153-68732160
444CDH1160.9867874669686735264968771334-68771366, 68772299, 68857470
445COG8160.89178901576944199183969364751, 69364761, 69364764-69364772, 69364775, 69364791-69364809, 69364816, 69364830-69364835, 69364841, 69364845-69364853, 69364859-69364864, 69366733, 69368596-69368600, 69373083-69373087, 69373112-69373128, 69373131-69373132, 69373136-69373141, 69373152, 69373160, 69373166-69373193, 69373207, 69373212, 69373217-69373221, 69373227-69373249, 69373257, 69373262, 69373265-69373266, 69373269, 69373272-69373278, 69373306-69373339, 69373406, 69373411, 69373414
446AARS160.999312005503962290770303656, 70303660
447HP160.9852579852579918122172091295, 72091307-72091308, 72091311, 72092166-72092179
448GCSH160.7950191570881210752281129740-81129742, 81129747, 81129751, 81129757-81129767, 81129773-81129774, 81129776-81129778, 81129796-81129797, 81129800-81129883
449GAN160.90078037904125178179481348719-81348885, 81388115-81388116, 81388219-81388220, 81388228-81388232, 81388259-81388260
450MLYCD160.6774628879892478148283932750-83933225, 83933244, 83933247
451LRRC50160.9678604224058870217884179067, 84179080-84179115, 84179142-84179169, 84199430-84199431, 84199434, 84199442-84199443
452FOXF1160.66666666666667380114086544176-86544263, 86544280, 86544290-86544291, 86544390, 86544395-86544396, 86544416-86544419, 86544489-86544494, 86544498, 86544502-86544527, 86544559-86544565, 86544572-86544611, 86544619, 86544622-86544623, 86544626, 86544647-86544648, 86544675, 86544683-86544685, 86544696-86544706, 86544735-86544738, 86544747-86544748, 86544792, 86544854-86544891, 86544908-86544958, 86544964-86544994, 86545012-86545049, 86545081-86545096
453FOXC2160.5066401062417743150686601063, 86601066-86601071, 86601076-86601079, 86601081, 86601089-86601091, 86601102-86601107, 86601114-86601136, 86601142, 86601149, 86601315-86601348, 86601438-86601451, 86601462-86601470, 86601509, 86601521-86601527, 86601535, 86601545-86601546, 86601562, 86601565, 86601591-86601607, 86601617-86601624, 86601638, 86601641-86601662, 86601672, 86601680, 86601697-86602204, 86602272-86602280, 86602288, 86602292-86602293, 86602343-86602378, 86602412-86602432
454JPH3160.75567423230975549224787636799-87636835, 87636852-87636893, 87636911, 87636926-87636928, 87637115-87637120, 87678012-87678037, 87678132-87678139, 87678290, 87678293-87678300, 87678588-87678589, 87678592-87678594, 87723255-87723303, 87723324-87723370, 87723375, 87723381-87723383, 87723390, 87723395-87723402, 87723418-87723464, 87723467-87723472, 87723483-87723493, 87723496-87723498, 87723503-87723510, 87723523, 87723527, 87723535-87723598, 87723614-87723618, 87723658-87723690, 87723696-87723770, 87723918, 87723968-87724015
455CYBA160.6717687074829919358888709772-88709777, 88709785-88709787, 88709798-88709801, 88709810, 88709814-88709816, 88709820-88709829, 88709837, 88709840, 88709852-88709853, 88709862-88709979, 88712567-88712585, 88717374-88717390, 88717394, 88717400-88717406
456APRT160.854511970534077954388877980, 88877983-88877984, 88878009-88878021, 88878232-88878246, 88878254-88878301
457GALNS160.90949649458254142156988884430-88884441, 88884482, 88884500-88884505, 88889014, 88901640-88901641, 88923166-88923285
458SPG7160.91331658291457207238889574826-89575008, 89598353-89598374, 89623484-89623485
459FANCA160.96932234432234134436889805051, 89813074-89813080, 89836321-89836325, 89836328, 89836347-89836352, 89836361-89836363, 89839757-89839761, 89842163-89842173, 89842180-89842193, 89842206, 89842214, 89882945-89883023
460TUBB3160.91648189209165113135389989810-89989866, 90001286, 90001544, 90001561, 90001702, 90001781-90001819, 90001973, 90002033-90002040, 90002052, 90002066, 90002074, 90002194
461PRPF8170.99985730593607170081587832
462CTNS170.970074812967583612033559800-3559801, 3559995-3560028
463CHRNE170.956140350877196514824802367-4802385, 4802574-4802610, 4802634, 4802667, 4802670-4802672, 4806340, 4806347-4806349
464GP1BA170.958854166666677919204835900-4835909, 4835915, 4835928-4835932, 4835939-4835940, 4835943, 4835946, 4836235-4836243, 4837169-4837172, 4837213-4837230, 4837243, 4837253-4837260, 4837456, 4837461, 4837469, 4837474, 4837548, 4837551, 4837554, 4837737-4837744, 4837779-4837780, 4837785, 4837791
465ENO3170.99770114942529313054858702, 4858705-4858706
466AIPL1170.9991341991342111556329060
467PITPNM3170.9237606837606822329256358658-6358682, 6358700-6358728, 6358731-6358742, 6358757, 6358763-6358767, 6358778-6358786, 6358789, 6358807-6358864, 6358869-6358879, 6358882-6358883, 6358890, 6358893, 6358908-6358950, 6380483, 6381302-6381303, 6459705-6459726
468ACADVL170.973577235772365219687123304-7123323, 7123331-7123348, 7123455-7123458, 7127804-7127812, 7127817
469CHRNB1170.992695883134131115067348491-7348501
470TP53170.99915397631134111827579472
471GUCY2D170.814311594202961533127906366-7906809, 7906820-7906845, 7906866-7906916, 7906947-7906962, 7906986-7906987, 7907000-7907001, 7907046, 7907055, 7907170-7907183, 7907195, 7907204, 7907278-7907326, 7915527, 7915539, 7919608, 7919806-7919809
472ALOX12B170.988603988603992421067976497, 7976500, 7976510, 7976513, 7976520-7976521, 7976622, 7982714-7982723, 7982773, 7984290-7984294, 7984481
473ALOXE3170.9513108614232210421368013240-8013297, 8013434, 8013581-8013591, 8013713-8013714, 8013717, 8013726, 8013730-8013731, 8013739, 8013742-8013751, 8013758-8013766, 8013770-8013777
474HES7170.179941002949855566788024889-8025340, 8025661-8025744, 8026374-8026383, 8026407-8026410, 8026416-8026421
475MYH8170.9912280701754451581410293855, 10293860, 10300288, 10301911-10301931, 10301943-10301945, 10302129-10302134, 10302142-10302144, 10302147-10302161
476MYH2170.9982835564709910582610426878, 10429104, 10431092-10431099
477MYH3170.9953632148377127582310534928, 10541419-10541439, 10541639, 10549246-10549249
478SCO1170.984547461368651490610600687, 10600692, 10600697-10600701, 10600711-10600717
479ELAC2170.9758162031438960248112896189-12896194, 12899037-12899038, 12899916-12899932, 12899966, 12921147, 12921150, 12921153-12921161, 12921167, 12921170-12921172, 12921174-12921175, 12921183, 12921233-12921248
480COX10170.9924924924924910133214095306-14095312, 14110514-14110516
481PMP22170.923395445134583748315163967-15163973, 15163987-15164016
482TNFRSF13B170.99886621315193188216852281
483FLCN170.9919540229885114174017118579, 17118589, 17118597, 17118601-17118604, 17125860-17125866
484RAI1170.93987065198392344572117696313, 17696351, 17696376-17696424, 17696451-17696459, 17696472-17696481, 17696544, 17696712-17696713, 17696731-17696737, 17696755, 17696786-17696820, 17696971, 17697037, 17697040-17697041, 17697099, 17697113-17697137, 17697139-17697141, 17697148, 17697232, 17697374-17697421, 17697499, 17697502-17697503, 17697617, 17697629, 17697735-17697736, 17697874, 17698064, 17698790-17698797, 17698812-17698814, 17698821-17698824, 17698828-17698829, 17698834-17698835, 17698838-17698846, 17698854-17698886, 17699197-17699200, 17699390-17699391, 17699395, 17699522-17699529, 17699548-17699551, 17699554-17699555, 17699620, 17699667, 17699673, 17699983-17699988, 17699993-17699995, 17700003-17700006, 17700014, 17700645-17700650, 17700798-17700799, 17700941-17700944, 17700948-17700956, 17701278, 17701529-17701530, 17701533, 17701538-17701547, 17701550, 17701554
485ATPAF2170.99655172413793387017942302, 17942309-17942310
486MYO15A170.8871896535447911951059318022467-18022485, 18022594, 18022598-18022600, 18022677-18022681, 18023480-18023486, 18023725, 18023728-18023733, 18023736, 18023743-18023750, 18023756, 18023759-18023766, 18023782-18023785, 18023805-18023808, 18023830, 18023833-18023839, 18023863, 18023877-18023917, 18023990-18024690, 18024711-18024714, 18024724-18024750, 18024765-18024803, 18024809-18024820, 18024844-18024845, 18024860, 18024879-18024885, 18024896, 18024902-18024913, 18024920, 18024924-18024939, 18024942, 18025046, 18025062-18025063, 18025067, 18025075, 18025080-18025082, 18035778, 18046880-18046883, 18049343-18049344, 18049355-18049356, 18051432-18051437, 18052633, 18052824, 18054827, 18057096-18057210, 18061088-18061098, 18061110-18061143, 18061152, 18061155-18061166, 18061176-18061181, 18061882, 18062650-18062655, 18070933-18070965, 18070973-18070975, 18071012-18071016
487ALDH3A2170.999345121152591152719552298
488UNC119170.6957123098201922072326879356-26879575
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585MAN2B1190.95092226613966149303612758062, 12758088-12758091, 12758329-12758330, 12758342-12758351, 12758363-12758364, 12758369-12758391, 12758396-12758397, 12758399-12758405, 12759003-12759005, 12759022, 12759025-12759026, 12759087-12759099, 12759144, 12760233-12760242, 12760787-12760788, 12767784, 12767842-12767844, 12767850-12767853, 12767867-12767870, 12768269, 12768272-12768279, 12768288-12768303, 12768941, 12775799, 12777427-12777446, 12777453-12777459
586RNASEH2A190.99888888888889190012917609
587GCDH190.993925588458628131713002139-13002143, 13002154, 13002157-13002158
588CACNA1A190.783805345033911626752113318127-13318867, 13319570-13319648, 13319654-13319658, 13319684-13319689, 13319693, 13319703, 13319716-13319718, 13325355-13325392, 13409409-13409432, 13409455-13409738, 13409747-13409788, 13409807-13409910, 13409926, 13410015-13410016, 13441080-13441081, 13616746-13617038
589NOTCH3190.86721217341372925696615271568-15271601, 15271660-15271695, 15271870-15271913, 15271978-15271981, 15271984-15271988, 15272007, 15272039-15272048, 15272068-15272071, 15272096-15272118, 15272172-15272176, 15272179, 15272191-15272257, 15272369, 15272469-15272477, 15272499, 15276684-15276689, 15280914-15280922, 15281154-15281201, 15281220-15281265, 15281318-15281320, 15281324-15281341, 15281348-15281358, 15281487-15281501, 15285052, 15285056-15285059, 15285071, 15285083-15285093, 15288352-15288353, 15288415, 15288418, 15288485, 15288523-15288529, 15288546-15288901, 15295731-15295737, 15296130, 15296139-15296141, 15296156, 15296163, 15298797, 15299818, 15300136, 15302556-15302558, 15303047-15303049, 15303073, 15311601-15311716
590CYP4F22190.999373433583961159615651463
591JAK3190.936216337517940924-17940926, 17940935-17940957, 17940963, 17940966-17940967, 17941020-17941023, 17941025, 17941312, 17941331-17941333, 17941344-17941397, 17942208-17942209, 17942588-17942597, 17945463-17945464, 17945476-17945481, 17945486-17945488, 17945491-17945496, 17953143-17953187, 17953200-17953211, 17953232-17953233, 17953241, 17953256-17953259, 17953301, 17953307-17953317, 17953321, 17953328-17953333, 17953356, 17953846, 17953852-17953854, 17954284-17954290
592SLC5A5190.9554865424430686193217983250-17983255, 17983292-17983293, 17983298-17983300, 17983345, 17984949-17984959, 17984976-17984977, 17984987-17984989, 17984991-17984998, 17985002-17985005, 17986859-17986861, 17994518-17994529, 17994659-17994682, 17994704-17994707, 17999218-17999220
593IL12RB1190.995475113122179198918177453, 18177456-18177457, 18177472, 18179322, 18179328, 18179334, 18183070, 18197572
594COMP190.77396657871592514227418896483-18896491, 18896496-18896499, 18896504-18896505, 18896508, 18896511-18896551, 18896554-18896555, 18896559, 18896562-18896569, 18896574, 18896846-18896848, 18898336-18898339, 18899031-18899073, 18899222-18899264, 18899275-18899306, 18899312-18899317, 18899401-18899422, 18899433-18899440, 18899455, 18899461-18899490, 18899493-18899499, 18899504, 18899510-18899516, 18899527-18899534, 18899648-18899649, 18899692-18899704, 18899982, 18899985-18899986, 18900006, 18900012-18900013, 18900018-18900036, 18900059-18900061, 18900078-18900103, 18900751-18900825, 18900831-18900898, 18900916-18900923, 18901659-18901666, 18901669, 18901691
595CEBPA190.24512534818942813107733792244, 33792255, 33792353-33792354, 33792364, 33792376, 33792380, 33792451-33792452, 33792464, 33792506-33792529, 33792533-33792545, 33792555-33793320
596SCN1B190.938042131350685080735521725-35521764, 35524786-35524795
597HAMP190.96862745098039825535775850-35775857
598MAG190.9521531100478590188135790494-35790496, 35790500, 35790555-35790560, 35790574, 35790617-35790656, 35790659, 35790737-35790743, 35791081-35791091, 35791103-35791110, 35791116, 35791137-35791142, 35793502-35793506
599PRODH2190.9658597144630755161136291007-36291008, 36291013, 36297663-36297664, 36297943, 36297955, 36297966, 36303099-36303105, 36303302-36303303, 36303312-36303338, 36303350-36303355, 36303358-36303362
600NPHS1190.95679012345679161372636322655, 36336314, 36336319, 36336326, 36336393-36336397, 36336400-36336413, 36336419-36336420, 36336423, 36336571, 36336577-36336594, 36336601, 36336605-36336609, 36336623, 36336633-36336639, 36336650-36336700, 36336913-36336917, 36337046-36337047, 36337050-36337051, 36337055, 36337059-36337069, 36337093, 36339570, 36339573-36339590, 36339601, 36341971-36341977, 36342285-36342286
601TYROBP190.98525073746313533936398356, 36398359, 36399112, 36399116, 36399123
602SDHAF1190.344827586206922834836486177-36486302, 36486337-36486432, 36486445, 36486448-36486452
603WDR62190.9908136482939642457236546023, 36546027-36546029, 36580185-36580191, 36591702, 36592180-36592198, 36595725, 36595864, 36595869-36595876, 36595926
604RYR1190.932989349738710131511738931403-38931445, 38931455-38931495, 38935312-38935315, 38942476, 38943492, 38943497-38943500, 38943642, 38943651-38943653, 38951159, 38956792, 38956803, 38964185, 38964327-38964333, 38964338, 38964354, 38964357, 38976354-38976356, 38976368-38976371, 38976411-38976418, 38976658-38976660, 38976670-38976681, 38976691-38976726, 38976745-38976776, 38980901-38980904, 38985101, 38987505-38987514, 38987524-38987533, 38990415, 38990420-38990421, 38993147-38993151, 38993159-38993217, 38993224-38993265, 38997186, 38997478, 38997481-38997482, 38997487-38997498, 38997501, 38997590, 38998378-38998380, 38998392-38998442, 38998452, 39002725, 39008212, 39008234, 39013668-39013678, 39013697, 39013861, 39013864-39013865, 39019604-39019606, 39037100-39037132, 39037136-39037140, 39037143, 39037163-39037166, 39055717, 39055730-39056185, 39056204-39056215, 39056220, 39056261-39056262, 39056267-39056315, 39056357-39056358, 39056362-39056363, 39056394, 39062751-39062752, 39062858, 39063817-39063818, 39068686
605ACTN4190.90679824561404255273639138396, 39138410-39138460, 39138468-39138470, 39138477-39138479, 39138483-39138485, 39138497, 39138502-39138507, 39138510, 39138513-39138547, 39214254, 39214262, 39214340-39214362, 39214596-39214602, 39214606-39214608, 39214632-39214636, 39214658-39214661, 39214676-39214677, 39214683-39214684, 39214695, 39214703, 39214797-39214803, 39214813-39214835, 39214847-39214865, 39214879-39214883, 39214889, 39215081, 39215084-39215085, 39216452-39216458, 39216478-39216509, 39218596, 39219736-39219738
606DLL3190.73397953688745494185739989617-39989620, 39989847-39989854, 39989896, 39993459-39993675, 39997720, 39997771-39997780, 39997786-39997796, 39997804-39997889, 39997896, 39997902, 39997908-39997918, 39997935-39997936, 39997942-39997955, 39997966-39997969, 39997977-39998023, 39998055, 39998065-39998067, 39998076-39998120, 39998142-39998160, 39998184-39998191
607PRX190.95827633378933183438640900672, 40900717, 40900967-40900993, 40901131-40901135, 40901140, 40901304-40901347, 40903412-40903415, 40903419, 40903473, 40909614-40909620, 40909654, 40909675-40909708, 40909714-40909769
608TGFB1190.84569479965899181117341836960-41836961, 41837005-41837088, 41837099-41837115, 41854247-41854263, 41854266-41854272, 41858605, 41858665, 41858721, 41858731, 41858751, 41858754, 41858771, 41858868-41858871, 41858876, 41858899-41858940
609BCKDHA190.981315396113625133841916551-41916555, 41916561-41916565, 41928240-41928247, 41928905-41928907, 41929070-41929073
610RPS19190.99771689497717143842373206
611ATP1A3190.90918977705275334367842470785-42470796, 42470810-42470811, 42470950-42470964, 42470996-42471028, 42471035-42471073, 42471095-42471124, 42471181-42471184, 42471191-42471209, 42471298-42471343, 42471352-42471392, 42480568-42480588, 42480602-42480661, 42480665-42480675, 42489326
612ETHE1190.958169934640523276544030365, 44030369, 44031249-44031263, 44031287, 44031316-44031329
613BCAM1901887188745312382-45312463, 45314482-45314603, 45315420-45315648, 45315735-45315805, 45316507-45316603, 45316695-45316877, 45317409-45317545, 45317861-45318017, 45321779-45321894, 45321998-45322139, 45322313-45322449, 45322603-45322747, 45322839-45322983, 45323962-45324079, 45324173-45324178
614APOE19095495445409882-45409924, 45411017-45411209, 45411790-45412507
615APOC219030630645451736-45451790, 45451958-45452117, 45452416-45452506
616BLOC1S319060960945682555-45683163
617ERCC21902283228345854887-45854979, 45855467-45855610, 45855764-45855907, 45856004-45856074, 45856341-45856413, 45856500-45856592, 45857988-45858109, 45858923-45858986, 45860528-45860629, 45860732-45860801, 45860888-45860957, 45864782-45864900, 45867001-45867169, 45867244-45867377, 45867493-45867589, 45867682-45867805, 45868096-45868212, 45868300-45868416, 45871888-45872001, 45872188-45872250, 45872328-45872405, 45873391-45873490, 45873794-45873798
618OPA319054354346032314-46032714, 46087881-46088022
619SIX51902220222046268759-46269369, 46269608-46270413, 46271300-46272102
620DMPK1901890189046273746-46273898, 46274229-46274318, 46274608-46274654, 46274826-46274923, 46275029-46275186, 46275899-46276010, 46278207-46278292, 46280585-46280848, 46280925-46281131, 46281385-46281478, 46281751-46281899, 46282522-46282617, 46282697-46282780, 46283036-46283127, 46285451-46285610
621FKRP190.47782258064516777148847258726, 47258729, 47258739-47258741, 47258790-47258825, 47258839-47258845, 47259025-47259229, 47259239-47259545, 47259554-47259558, 47259589-47259684, 47259704-47259789, 47259827-47259833, 47260050, 47260053-47260060, 47260129-47260132, 47260170-47260179
622CRX190.974444444444442390048342620-48342621, 48342631-48342643, 48342658, 48342669-48342675
623DBP190.6421267893660535097849138837-49139154, 49139173, 49139241, 49139244, 49140180-49140208
624BCAT2190.9881255301102614117949299887, 49303446, 49303452-49303461, 49303464, 49303470
625GYS1190.998193315266494221449473884, 49473887-49473889
626MED25190.92914438502674159224450321622, 50321625-50321626, 50333148, 50333152-50333155, 50333162-50333168, 50333185, 50333426-50333427, 50333441-50333446, 50333768-50333808, 50333815-50333825, 50334021-50334028, 50334048-50334064, 50334103-50334109, 50334114, 50334120, 50334125-50334143, 50335407, 50338799-50338800, 50338850-50338862, 50339510-50339514, 50339525-50339526, 50339548, 50340118-50340123
627PNKP190.9412515964240192156650364520, 50364912-50364922, 50364926-50364928, 50365033, 50365042-50365045, 50365523, 50365628-50365651, 50365835-50365839, 50365843-50365865, 50365954-50365960, 50368397-50368408
628MYH14190.9720176730486171611150713648-50713657, 50713660-50713672, 50713676, 50713700-50713706, 50713716-50713718, 50713895, 50713948-50713952, 50714015-50714016, 50728842-50728844, 50733785-50733788, 50735271, 50747517, 50762418, 50764738-50764739, 50764743, 50764864-50764875, 50766613, 50770214-50770237, 50770249, 50770255-50770265, 50775951, 50779280-50779283, 50779286, 50780073, 50780082-50780105, 50780125-50780132, 50780135, 50781456-50781458, 50784918, 50795632-50795643, 50804977, 50804998, 50805012, 50812925, 50812942, 50813005-50813010
629KCNC3190.503957783641161128227450823503-50823598, 50823854-50823858, 50824009, 50824015-50824016, 50826267-50826299, 50826308-50826314, 50826327-50826369, 50826405, 50826408-50826413, 50826418, 50826431-50826432, 50826436-50826467, 50826499, 50826557-50826571, 50826632, 50826635-50826639, 50826645-50826651, 50831470-50832339
630KLK4190.946405228758174176551412019, 51412031, 51412522, 51412597-51412599, 51412602, 51412607-51412629, 51412646-51412650, 51412653, 51412666-51412670
631ETFB190.99711815561963104151856436, 51857420, 51857425
632NLRP12190.96453232893911113318654297304, 54299156, 54313210, 54313627-54313678, 54313696-54313704, 54313982-54313987, 54313990, 54314081-54314105, 54314410-54314416, 54314422, 54314426-54314434
633PRKCG190.75883476599809505209454385749-54385909, 54385918, 54387473-54387474, 54392898-54393002, 54393140-54393271, 54401836, 54403993, 54409644-54409654, 54409969-54410015, 54410031-54410074
634PRPF31190.9753333333333337150054627134-54627136, 54627141, 54627160, 54627878-54627905, 54631567-54631568, 54631572-54631573
635TSEN34190.8885316184351610493354695234-54695241, 54695246, 54695261, 54695273-54695301, 54695305-54695310, 54695314, 54695328-54695331, 54695334-54695375, 54695395-54695396, 54695400-54695402, 54697067-54697073
636NLRP7190.977199743095771311455435109-55435123, 55441995, 55450941-55450974, 55451200-55451216, 55453035-55453038
637TNNT1190.925221799746515978955648531-55648540, 55648543, 55648554, 55648569-55648573, 55648580, 55649352, 55652253-55652254, 55652265-55652282, 55652289, 55652295, 55652300-55652301, 55652303-55652307, 55652321, 55652324, 55652658, 55657827, 55658383-55658389
638TNNI3190.7865353037766813060955665458-55665498, 55667579-55667650, 55667684-55667700
639TPO20.8922198429693130228021480858-1480862, 1480866, 1480871, 1480875-1480912, 1480918-1480927, 1480935-1480940, 1480950-1480978, 1480983, 1480989-1480994, 1481002-1481013, 1481017, 1481060-1481061, 1481074-1481075, 1481094-1481098, 1481102-1481108, 1481117, 1481119-1481125, 1481143, 1481155, 1481165-1481228, 1481231-1481236, 1481243, 1481247-1481256, 1481262-1481266, 1481273-1481279, 1481321-1481376, 1488536-1488539, 1488542-1488543, 1488551-1488555, 1488563, 1507766-1507767, 1507773-1507775
640RPS720.87692307692308725853623200-3623271
641KLF1120.9714100064977344153910183844-10183885, 10188188, 10188460
642LPIN120.9902731013842126267311911733-11911752, 11919750, 11955325, 11955327-11955330
643MYCN20.71254480286738401139516082187-16082194, 16082306, 16082388-16082392, 16082400, 16082404, 16082411-16082422, 16082428-16082431, 16082467-16082487, 16082492, 16082554-16082895, 16082907, 16082910, 16082915, 16082925, 16086077
644MATN320.84531143052704226146120203027, 20203030-20203032, 20203035-20203044, 20212174-20212249, 20212257-20212392
645APOB20.99393806602396831369221263855, 21266736-21266817
646POMC20.8470149253731312380425384125-25384127, 25384131, 25384140-25384159, 25384186-25384187, 25384235-25384255, 25384260-25384267, 25384319, 25384342, 25384381-25384384, 25384397-25384406, 25384409-25384410, 25384417-25384419, 25384429-25384435, 25384438, 25384444, 25384453-25384482, 25384507, 25384531-25384536, 25384598
647HADHA20.996509598603848229226417978-26417981, 26417986-26417989
648OTOF20.95228561895229286599426685046-26685049, 26689673, 26689694, 26689697, 26696881-26696883, 26696892-26696895, 26696963-26696970, 26697381-26697391, 26697395-26697412, 26697415-26697420, 26697423, 26699052-26699055, 26699121, 26699759-26699911, 26700040-26700057, 26700102-26700145, 26700525-26700526, 26702342, 26703755, 26712138, 26712606-26712608
649EIF2B420.998161764705883163227592858-27592860
650C2orf7120.9891388673390242386729293522, 29293612, 29293641-29293642, 29293652-29293657, 29293660-29293663, 29293668, 29293680-29293682, 29294016-29294022, 29294025-29294027, 29294047-29294054, 29294093, 29294099-29294103
651ALK20.96956611145384148486329420426-29420427, 29420438-29420439, 29451754-29451760, 29451763, 29451777-29451778, 29451782-29451793, 29462685-29462691, 29754867-29754872, 29754888-29754895, 30143236-30143268, 30143313, 30143385-30143400, 30143405-30143409, 30143419-30143429, 30143435-30143436, 30143440-30143459, 30143466-30143472, 30143499, 30143509, 30143522-30143525
652SRD5A220.963254593175852876231805752-31805753, 31805761, 31805764, 31805776-31805778, 31805817, 31805820-31805835, 31805930, 31805952-31805954
653SPAST20.81901674770394335185132288944-32288951, 32288976, 32288991-32289315, 32323917
654CYP1B120.82107843137255292163238301858-38301877, 38301903, 38301921, 38301929, 38301980-38302070, 38302077-38302104, 38302145-38302151, 38302162-38302173, 38302181-38302184, 38302191-38302213, 38302226, 38302235-38302237, 38302240, 38302257, 38302261, 38302305-38302335, 38302347-38302355, 38302366-38302407, 38302415-38302429
655SOS120.9935032483758126400239347524-39347527, 39347532-39347538, 39347549-39347563
656ABCG520.9555214723926487195644058918-44058942, 44058949-44058996, 44059086-44059088, 44059102-44059105, 44059111, 44059119, 44059131, 44059201, 44059205, 44059218, 44065752
657ABCG820.998516320474783202244073354-44073356
658LRPPRC20.9875746714456452418544222948, 44222952-44222971, 44222974-44222975, 44222987-44222992, 44223017, 44223020, 44223030-44223031, 44223039-44223044, 44223053, 44223055-44223056, 44223061, 44223076-44223083, 44223086
659SIX320.7567567567567624399945169263-45169265, 45169271, 45169281, 45169302-45169320, 45169322, 45169331-45169336, 45169341-45169390, 45169396, 45169403, 45169407, 45169413-45169418, 45169424-45169444, 45169447-45169449, 45169453, 45169456-45169460, 45169500-45169507, 45169513-45169517, 45169534-45169543, 45169568-45169580, 45169589-45169591, 45169596-45169602, 45169633-45169661, 45169678, 45169681, 45170030, 45170035, 45170042, 45171738-45171742, 45171751-45171753, 45171767-45171782, 45171793-45171802, 45171833-45171836, 45171840-45171844
660EPCAM20.969312169312172994547596645-47596660, 47596671-47596674, 47596678, 47596680-47596682, 47596684, 47596687-47596688, 47596701-47596702
661MSH220.9939393939393917280547630457, 47630468, 47630480-47630483, 47639558-47639560, 47639564-47639565, 47639604-47639607, 47639639, 47703610
662MSH620.93632133235366260408348010373-48010632
663LHCGR20.9447619047619116210048982675-48982697, 48982718-48982810
664NRXN120.95254237288136210442550149133-50149134, 50149143, 50149343-50149346, 50149352, 50149364-50149365, 51254640-51254647, 51254689, 51254759-51254765, 51254769-51254778, 51254825-51254826, 51254898-51254947, 51255064, 51255067, 51255072, 51255077, 51255091, 51255108-51255110, 51255127-51255137, 51255142, 51255147, 51255155, 51255158-51255162, 51255263, 51255271-51255274, 51255284-51255324, 51255340-51255353, 51255357-51255365, 51255382-51255383, 51255388-51255411
665EFEMP120.9925775978407611148256102119-56102125, 56103838, 56144973-56144975
666FANCL20.9893617021276612112858390001-58390012
667ATP6V1B120.993514915693910154271163094-71163101, 71163106, 71187182
668DYSF20.9930817610062944636071693973, 71693982-71694000, 71694018, 71694022, 71694026-71694027, 71753434-71753443, 71753455-71753464
669SPR20.6348600508905928778673114562-73114848
670ALMS120.990882917466411141250473612997-73613062, 73613071-73613074, 73613086-73613088, 73613091, 73613095, 73613102-73613109, 73613115, 73613119, 73613244-73613245, 73613251-73613252, 73613255-73613266, 73613283, 73613295-73613300, 73676170, 73786106, 73786113-73786116
671SLC4A520.997363796133579341474460602-74460605, 74513016-74513020
672DCTN120.9916601511597632383774590479, 74590487-74590491, 74590494-74590495, 74590515-74590519, 74590528-74590531, 74593679-74593681, 74595178, 74598129, 74598777, 74598783-74598785, 74605338-74605339, 74605348-74605351
673MOGS20.9634049323786892251474688818-74688826, 74688926-74688927, 74692104-74692113, 74692120-74692145, 74692153-74692160, 74692163-74692168, 74692171-74692175, 74692191, 74692194, 74692263-74692264, 74692267-74692273, 74692291, 74692297, 74692300, 74692349, 74692352-74692362
674HTRA220.90268700072622134137774757134-74757145, 74757150, 74757156-74757163, 74757166-74757168, 74757220, 74757235-74757237, 74757240-74757243, 74757246, 74757249, 74757275, 74757293-74757299, 74757304, 74757307-74757308, 74757336-74757339, 74757346-74757355, 74757360-74757375, 74757379, 74757393, 74757397-74757405, 74757415, 74757419, 74757428-74757447, 74757451, 74757456, 74757463, 74757471-74757476, 74757525-74757528, 74757537-74757538, 74757541-74757548, 74757554-74757555, 74757559
675SUCLG120.9538904899135448104184668454, 84686297-84686315, 84686326-84686348, 84686389-84686393
676GGCX20.9938515590689514227785788518, 85788521-85788523, 85788528-85788531, 85788542-85788547
677SFTPB20.973821989528830114685889232, 85890492-85890495, 85890501-85890506, 85890511, 85890529-85890538, 85890563, 85890828, 85890850, 85895269-85895273
678REEP120.947194719471953260686564602-86564633
679EIF2AK320.93912264995524204335188926549-88926592, 88926602-88926712, 88926732-88926741, 88926747-88926785
680RPIA20.986111111111111393688991251, 88991254-88991258, 88991266, 88991288-88991292, 88991460
681TMEM12720.8228730822873112771796930878-96930909, 96930920-96930925, 96930932-96930937, 96930989-96931001, 96931019-96931054, 96931086-96931119
682ZAP7020.9473118279569998186098340547-98340592, 98340628-98340633, 98340719-98340722, 98340735-98340739, 98340765-98340768, 98340804-98340818, 98340826, 98340829, 98340841-98340845, 98340860, 98340875-98340879, 98341651, 98341659, 98354033, 98354036, 98354040
683RANBP220.976124031007752319675109336063-109336073, 109336081-109336124, 109347317-109347323, 109347919, 109352111-109352120, 109357110-109357116, 109368104-109368110, 109368327-109368349, 109371388, 109371656-109371662, 109378578-109378580, 109382787-109382793, 109383268-109383274, 109383295-109383321, 109383354-109383360, 109383792-109383814, 109383992-109384010, 109384466-109384474, 109397751-109397752, 109397756, 109397761, 109397764, 109397772-109397776, 109397788
684NPHP120.9975417895771952034110917720, 110917726, 110917734, 110917739, 110917743
685MERTK20.97266666666667823000112656313-112656373, 112786220-112786240
686GLI220.829027515227898144761121555005-121555044, 121709010-121709011, 121726309-121726310, 121726351-121726353, 121726357, 121726452-121726456, 121726463, 121728016-121728025, 121728139-121728149, 121729585-121729591, 121729603-121729626, 121729629-121729632, 121745820-121745835, 121745842, 121745846-121745847, 121745910-121745912, 121745987-121746005, 121746013, 121746019-121746020, 121746022-121746062, 121746070-121746576, 121746585, 121746631-121746676, 121746703-121746713, 121746736, 121746796-121746804, 121746817-121746833, 121747042, 121747045, 121747056, 121747059, 121747370-121747385, 121747405-121747406, 121747509, 121747607-121747609, 121747624
687BIN120.98260381593715311782127808406-127808408, 127808414, 127808420, 127808773-127808790, 127811555, 127815063-127815069
688PROC20.790764790764792901386128178867-128178877, 128178897-128178899, 128178907-128178911, 128178936-128178957, 128180493-128180517, 128180610-128180747, 128180850-128180894, 128180921-128180961
689CFC120.70535714285714198672131279059-131279060, 131279066, 131279622, 131279688, 131280363-131280477, 131280773-131280775, 131280782-131280786, 131280792, 131280798-131280799, 131280804, 131280834, 131280842, 131285300-131285322, 131285343, 131285346, 131285365, 131285370, 131285393-131285429
690RAB3GAP120.9949083503055152946135815590, 135815594-135815595, 135920130-135920138, 135920155, 135922168, 135922180
691LCT20.9986168741355585784136562349, 136567541-136567544, 136567548, 136590746-136590747
692MCM620.99270072992701182466136615478-136615480, 136633880, 136633884, 136633896-136633906, 136633915, 136633918
693ZEB220.97942386831276753645145147382, 145147385, 145274845-145274917
694MMADHC20.9887766554433210891150438656-150438665
695NEB20.997246420346455519974152417767, 152432729-152432736, 152432754-152432760, 152432771-152432775, 152432840-152432868, 152497149-152497152, 152521045
696CACNB420.9616122840691601563152698468, 152954920, 152955468-152955525
697ACVR120.9980392156862731530158622674-158622676
698SCN2A20.99385177799934376018166170575, 166171984, 166172005-166172006, 166210830, 166211159-166211166, 166221685, 166223855-166223861, 166231387, 166237670, 166245227-166245233, 166245280-166245284, 166245292-166245293
699GALNT320.9989484752891721902166627132, 166627149
700SCN1A20.99049524762381575997166848784-166848829, 166848838-166848844, 166896067, 166901770, 166903292, 166903295
701SCN9A20.99578699022582255934167083168, 167084222, 167089914-167089920, 167133744, 167134692, 167138231-167138234, 167168093, 167168100-167168104, 167168127-167168130
702ABCB1120.99218356026223313966169788923-169788953
703SLC25A1220.9990181639666222037172750716-172750717
704ITGA620.944444444444441823276173292517-173292698
705CHN120.98623188405797191380175869622-175869640
706HOXD1320.638565891472873731032176957619-176957923, 176957931-176957938, 176957945-176957948, 176957954-176957959, 176957963-176957965, 176957969-176957976, 176957980-176957982, 176957984-176957996, 176958001-176958022, 176958081
707AGPS20.97268588770865541977178257552-178257560, 178257565, 178257577, 178257580-178257582, 178257586-178257591, 178257594-178257596, 178257603-178257612, 178257621, 178257624-178257625, 178257637-178257647, 178257702-178257704, 178257707-178257708, 178285067, 178362484
708PRKRA20.9405520169851456942179315693-179315741, 179315751-179315757
709TTN20.99874311706967126100248179392337-179392341, 179392347, 179392350-179392352, 179392357-179392365, 179392371-179392375, 179404988-179404995, 179407027, 179415838-179415840, 179415858, 179415861, 179422749, 179425471-179425475, 179430997, 179447772-179447773, 179447777, 179447782-179447785, 179467228, 179469782-179469783, 179497649-179497651, 179514899-179514900, 179514907-179514908, 179516187-179516190, 179516195, 179516198, 179545859-179545862, 179560916-179560917, 179563640-179563641, 179565865-179565883, 179580247, 179583899-179583910, 179597393-179597396, 179597750, 179597768, 179634497, 179648826-179648827, 179659928, 179664635-179664637, 179665137, 179665141-179665143, 179666877, 179666883
710CERKL20.9987492182614121599182521496, 182521499
711NEUROD120.9925303454715281071182542535-182542542
712COL3A120.973869575096571154401189850463-189850465, 189854122, 189856422-189856433, 189856932, 189860419, 189860431, 189860436, 189860445-189860449, 189860455-189860457, 189860468, 189860851-189860885, 189861170-189861201, 189867057, 189871670-189871675, 189871682-189871683, 189872279, 189872612-189872619, 189872624
713COL5A220.99111111111111404500189904026, 189909957-189909958, 189916076-189916080, 189916900-189916927, 189918200, 189932786, 189932801-189932802
714SLC40A120.9994172494172511716190436511
715PMS120.9982136477313352799190718789-190718790, 190719109-190719111
716MSTN20.999113475177311128190927000
717STAT120.97248113626276622253191843607-191843609, 191843621, 191843657-191843658, 191843668-191843671, 191847172, 191848414, 191859787-191859791, 191859794, 191859798-191859801, 191859827-191859828, 191859889-191859890, 191859895, 191859898-191859906, 191859911-191859923, 191862598-191862600, 191862614-191862619, 191862624-191862625, 191862628, 191862638
718CASP1020.999362651370311569202068454
719ALS220.98693204664254654974202569866, 202569870, 202569873-202569878, 202569884-202569896, 202569899, 202626268-202626276, 202626297-202626298, 202626360-202626391
720BMPR220.9980750721847963117203424593-203424597, 203424601
721NDUFS120.9986263736263732184206992586-206992587, 206992596
722FASTKD220.995780590717392133207632014, 207652757-207652764
723ACADL20.9930394431554591293211089913, 211089919, 211089929-211089930, 211089934-211089938
724CPS120.9997779258272314503211455621
725ABCA1220.99576271186441337788215797388, 215798889, 215809748-215809749, 215854183-215854187, 215854286-215854293, 215854323, 215854327-215854332, 215854338-215854345, 215880285
726SMARCAL120.9996509598603812865217285107
727PNKD20.93091537132988801158219204506-219204538, 219204554-219204599, 219204848
728BCS1L20.9992063492063511260219525792
729CYP27A120.9949874686716881596219646918, 219646937-219646943
730WNT10A20.7926634768742601254219745718-219745730, 219745741-219745774, 219745789-219745825, 219757537-219757559, 219757563, 219757602, 219757606, 219757619-219757623, 219757663-219757683, 219757690-219757699, 219757702, 219757705-219757712, 219757718-219757740, 219757760-219757796, 219757815-219757818, 219757839, 219757863-219757865, 219757868, 219757874-219757878, 219757892-219757893, 219757896-219757920, 219757923, 219757927-219757929
731DES20.838641188959662281413220283185-220283203, 220283215-220283231, 220283241-220283251, 220283257-220283261, 220283265-220283266, 220283271-220283278, 220283285, 220283332, 220283336-220283339, 220283357-220283376, 220283387-220283391, 220283394, 220283398-220283406, 220283409-220283426, 220283432-220283434, 220283439-220283451, 220283582-220283630, 220283696-220283729, 220285275-220285279, 220285301-220285302, 220285309
732OBSL120.8116324020383110725691220416254-220416257, 220416261-220416270, 220416280-220416282, 220416292-220416301, 220416311, 220416323-220416335, 220416356-220416374, 220416390-220416421, 220416432-220416442, 220416461-220416499, 220416844-220416887, 220416902-220416912, 220417273-220417278, 220417282-220417285, 220417287-220417311, 220417315, 220417318-220417319, 220417322-220417329, 220417332, 220417353-220417365, 220417368-220417380, 220417382-220417391, 220417401-220417419, 220417604-220417641, 220417652-220417656, 220417660, 220417664, 220417670, 220417718-220417719, 220417732-220417739, 220417741-220417742, 220418383, 220422627-220422628, 220432171, 220432926-220432927, 220435043-220435045, 220435057-220435059, 220435070-220435072, 220435075-220435080, 220435128-220435135, 220435140, 220435223-220435227, 220435232, 220435236-220435241, 220435244-220435255, 220435266-220435267, 220435271, 220435297-220435954
733PAX320.9960474308300461518223163270-223163273, 223163288-223163289
734COL4A420.99526066350711245064227875101, 227896871-227896874, 227896883, 227896886, 227942712, 227968715, 227984625-227984626, 227984645-227984655, 227985834, 227985837
735COL4A320.98144823459007935013228029443-228029475, 228029515, 228029522, 228029528, 228120742-228120751, 228134638, 228155580-228155586, 228162398-228162404, 228162407-228162410, 228162425, 228162428, 228162432-228162440, 228163443, 228163456-228163458, 228163477, 228163484-228163492, 228168802-228168804
736SLC19A320.98859825620389171491228563958, 228563961-228563972, 228564058, 228564083-228564085
737CHRND20.99163449163449131554233390930, 233390937-233390946, 233390956, 233394677
738CHRNG20.97490347490347391554233404464-233404485, 233404493-233404495, 233405312-233405314, 233405318-233405320, 233405325-233405327, 233409537-233409539, 233409594, 233409612
739SAG20.999178981937611218234243645
740UGT1A120.98689138576779211602234668951-234668954, 234668958-234668959, 234668963-234668977
741COL6A320.989196559681141039534238244868-238244879, 238244890-238244891, 238249281-238249284, 238257256, 238280446-238280456, 238280459, 238283092-238283109, 238283112-238283114, 238283117, 238283327, 238283427-238283432, 238283440-238283455, 238285540-238285543, 238287502-238287509, 238287546-238287548, 238287554, 238287558-238287566, 238303252, 238303548
742AGXT20.98642917726887161179241808360, 241808363-241808369, 241808372-241808373, 241808389-241808390, 241818131-241818134
743D2HGDH20.773946360153263541566242674640-242674687, 242674695-242674722, 242674731-242674765, 242674779-242674793, 242674851-242674855, 242674861-242674869, 242689588-242689598, 242689677, 242695425-242695426, 242707153-242707188, 242707208-242707248, 242707262-242707384
744C20orf54200.98297872340426241410744353-744374, 745976, 746195
745IDH3B200.99913644214162111582644577
746AVP200.242424242424243754953063276-3063448, 3063623-3063824
747PANK2200.7186223000583848217133869763-3869768, 3869792-3869793, 3869795-3869798, 3869819-3869830, 3869839-3870043, 3870078-3870109, 3870124-3870129, 3870133, 3870137-3870142, 3870150, 3870156-3870177, 3870182-3870202, 3870212-3870375
748PRNP200.9973753280839927624680091-4680092
749PROKR2200.99479166666667611525283045-5283050
750FERMT1200.99754178957719520346088233-6088237
751JAG1200.97074104457205107365710653450-10653458, 10653468-10653476, 10653545, 10653560-10653561, 10653570-10653575, 10653635-10653636, 10653643, 10654102-10654178
752C20orf7200.9903660886319810103813782166, 13782175, 13782201-13782204, 13782228-13782231
753THBD200.80381944444444339172823028428-23028439, 23028449-23028452, 23028632-23028633, 23028639-23028643, 23028648, 23028654-23028658, 23028661-23028663, 23028666-23028667, 23028960-23028961, 23028966, 23028969, 23029062, 23029076-23029080, 23029264-23029277, 23029285-23029292, 23029305-23029306, 23029311-23029328, 23029335, 23029368, 23029377, 23029462-23029481, 23029496-23029499, 23029503-23029508, 23029517-23029537, 23029542-23029544, 23029560-23029566, 23029577-23029606, 23029648-23029655, 23029670-23029674, 23029698, 23029701-23029702, 23029705-23029715, 23029717-23029718, 23029720-23029737, 23029748-23029753, 23029761-23029790, 23029798-23029804, 23029814-23029841, 23029873-23029894, 23029897, 23029904-23029907, 23030035, 23030038-23030039, 23030045-23030054, 23030088
754SNTA1200.80632411067194294151832031133-32031426
755GSS200.999298245614041142533539592
756GDF5200.9707835325365244150634021839, 34022088, 34022427-34022428, 34022438-34022439, 34025099-34025101, 34025109-34025129, 34025151, 34025180-34025183, 34025264-34025265, 34025451-34025457
757SAMHD1200.9712918660287154188135547866, 35547869, 35579843-35579866, 35579870-35579879, 35579886, 35579897-35579902, 35579909-35579915, 35579932, 35579953, 35579966-35579967
758HNF4A200.9908771929824613142543052762-43052766, 43052772-43052779
759ADA200.9331501831501873109243257735-43257774, 43280216-43280248
760CTSA200.9759519038076236149744520231-44520234, 44520237-44520257, 44520260-44520265, 44520332, 44523633-44523634, 44523637, 44523643
761SLC2A10200.995079950799518162645338376-45338379, 45354187, 45354190, 45354301, 45358003
762SALL4200.9705882352941293316250408028-50408066, 50408346-50408354, 50408357-50408359, 50408362-50408363, 50408824, 50418821, 50418840-50418848, 50418850, 50418857-50418862, 50418871-50418877, 50418888-50418889, 50418901, 50418906, 50418918, 50418931-50418934, 50418941-50418946
763VAPB200.92076502732245873256964516-56964573
764GNAS200.8644986449864510073857415187-57415189, 57415192-57415193, 57415230-57415237, 57415320-57415345, 57415353-57415371, 57415643-57415682, 57415703-57415704
765GNAS200.8538856775851455311457428712-57428714, 57428718-57428720, 57428908-57428911, 57428919-57428931, 57429085-57429096, 57429101, 57429107-57429115, 57429152-57429160, 57429367, 57429447-57429448, 57429454-57429470, 57429481-57429504, 57429526, 57429531, 57429540, 57429614-57429693, 57429714-57429731, 57429748-57429782, 57429797-57429821, 57429827-57429873, 57429906-57429915, 57429926-57429931, 57429940-57429948, 57429967-57429977, 57429998-57430003, 57430047-57430092, 57430098, 57430102-57430105, 57430108-57430123, 57430162-57430180, 57430284, 57430293, 57430303, 57430308, 57430372-57430388
766COL9A3200.8992700729927207205561448417-61448494, 61448940-61448987, 61456334-61456362, 61457210, 61458633-61458635, 61461712, 61461736, 61461918, 61461921-61461933, 61468555, 61468560-61468589, 61468597
767CHRNA4200.93259023354565127188461981075, 61981235, 61981239-61981245, 61981516-61981517, 61981566, 61981575, 61981592-61981601, 61981627-61981630, 61981645-61981646, 61981649, 61981654-61981660, 61981672-61981679, 61981682, 61981904, 61987409-61987416, 61987422-61987427, 61990939, 61992443-61992450, 61992461-61992517
768KCNQ2200.81137838869798494261962038066-62038068, 62038142-62038191, 62038203-62038240, 62038258-62038261, 62038287-62038298, 62038344-62038373, 62038413-62038416, 62038470-62038473, 62038476-62038478, 62038496-62038505, 62038508, 62038511, 62038522-62038527, 62038531, 62038544, 62044881-62044888, 62046408, 62046421-62046422, 62059765-62059769, 62059785-62059788, 62076650-62076655, 62076661, 62076664, 62076677, 62078176, 62103521-62103816
769SOX18200.0753246753246751068115562679536-62679575, 62679607-62679637, 62679655-62679698, 62679721-62680315, 62680512-62680869
770APP210.9779507133592751231327394188-27394194, 27394200, 27542885-27542924, 27542936-27542938
771BACH1210.9742198100407157221130693731-30693737, 30698392-30698395, 30714725, 30714997-30715037, 30715068-30715070, 30715132
772SOD1210.98064516129032946533032119, 33032147-33032154
773IFNGR2210.9280078895463573101434775850-34775922
774RCAN1210.6521739130434826475935895948-35895959, 35987059-35987310
775RUNX1210.86625086625087193144336164447-36164448, 36164467, 36164471-36164477, 36164505, 36164510, 36164515, 36164518-36164525, 36164552, 36164564-36164588, 36164595-36164597, 36164607-36164614, 36259222-36259234, 36259239-36259241, 36259244-36259249, 36259257-36259259, 36259284-36259393
776CLDN14210.99722222222222272037833553-37833554
777CBS210.99939613526571165644483156
778CSTB210.777777777777786629745196085-45196150
779AIRE210.76129426129426391163845705890-45706021, 45706450, 45706511-45706514, 45706955-45706958, 45706977-45706983, 45706990-45706993, 45707001-45707011, 45707466-45707467, 45709903-45709914, 45709918-45709933, 45712876-45712924, 45712932-45712933, 45712943-45712950, 45712954-45712961, 45712971-45712978, 45712986, 45712989-45712991, 45712997-45712998, 45713001-45713002, 45713024, 45713030, 45713033-45713034, 45713040, 45713043-45713058, 45713688-45713694, 45713736-45713763, 45713770, 45713774-45713778, 45713786-45713793, 45714284-45714298, 45714306, 45714322-45714323, 45714338-45714348, 45714354, 45714358, 45714361-45714362, 45714374-45714384, 45716292
780ITGB2210.94025974025974138231046306753-46306758, 46306766-46306769, 46308608-46308622, 46308627-46308653, 46308656-46308657, 46308660-46308727, 46308748-46308753, 46308757-46308760, 46308775-46308777, 46308781-46308783
781COL18A1210.89439696106363556526546875445-46875450, 46875456, 46875459, 46875476-46875485, 46875491-46875504, 46875506-46875511, 46875591, 46875831-46875877, 46876173, 46876193-46876194, 46876197-46876199, 46876282, 46876306, 46876349-46876352, 46876362-46876366, 46876379-46876395, 46876416-46876419, 46876426, 46876430-46876434, 46876438, 46876469-46876487, 46876517, 46876529-46876560, 46876613-46876619, 46876645, 46876659-46876668, 46876673-46876675, 46876702-46876705, 46876709, 46888202, 46888216, 46888225, 46888228, 46898264, 46899850-46899866, 46900641-46900645, 46900650, 46900655, 46900661-46900663, 46900679-46900705, 46906777-46906802, 46906820, 46906824, 46909405-46909407, 46911170, 46911176-46911180, 46911183, 46911189-46911192, 46911220-46911223, 46916422-46916433, 46924426-46924434, 46925110-46925126, 46925153-46925154, 46925159, 46925294-46925300, 46925305-46925306, 46925762, 46925770, 46925778, 46929430-46929470, 46929484-46929515, 46929997-46930004, 46930017-46930018, 46930027, 46930045-46930047, 46930054, 46930057, 46930064, 46930069-46930082, 46930094-46930115, 46930137-46930175, 46931031, 46931038, 46931041, 46931085-46931089, 46931132, 46931137, 46932186-46932187, 46932198-46932209
782COL6A1210.91026886945254277308747401765-47401829, 47401841, 47401844, 47406505-47406507, 47407524-47407526, 47407529, 47407547-47407552, 47410175-47410196, 47410305, 47410325-47410336, 47418827-47418830, 47418834-47418845, 47418848-47418849, 47419575-47419596, 47419598-47419600, 47419603-47419606, 47420673-47420681, 47421256-47421260, 47421270, 47422171-47422215, 47422299-47422304, 47422315, 47423328-47423337, 47423346, 47423349, 47423354-47423355, 47423421, 47423432-47423438, 47423441-47423455, 47423485, 47423507, 47423636, 47423906-47423913
783COL6A2210.94313725490196174306047531438, 47531453-47531460, 47531465-47531466, 47531896-47531902, 47531911-47531913, 47531941, 47531967-47531971, 47532289, 47532294, 47539745-47539764, 47545421, 47545754, 47545824, 47545829-47545830, 47545889, 47545927, 47545962, 47545969, 47551914, 47551917-47551924, 47551988-47551992, 47552003-47552040, 47552051-47552058, 47552199-47552200, 47552204, 47552327, 47552330-47552360, 47552369-47552376, 47552379, 47552382-47552384, 47552458-47552466
784COL6A2210.72807017543869334247552199-47552200, 47552204, 47552327, 47552330-47552360, 47552369-47552376, 47552379, 47552382-47552384, 47552458-47552466, 47552474-47552510
785FTCD210.90036900369004162162647565336-47565339, 47565345-47565347, 47565351, 47565375-47565377, 47565381-47565389, 47565413-47565430, 47565434-47565444, 47565447, 47565451-47565454, 47565491-47565492, 47565732-47565775, 47565794-47565801, 47565840-47565842, 47566206-47566208, 47570132, 47571479-47571488, 47571614, 47571859-47571866, 47574133-47574147, 47574194-47574206
786PCNT210.950354609929084971001147744143-47744156, 47744158-47744196, 47766793-47766796, 47766805-47766808, 47783688-47783693, 47783703-47783705, 47783759-47783766, 47783800-47783801, 47786593-47786595, 47786661, 47786673, 47811194-47811198, 47817982-47817983, 47817988-47817989, 47817996-47818000, 47818009, 47818019, 47818034-47818039, 47818152, 47822340-47822364, 47831309-47831359, 47831381-47831423, 47831443-47831486, 47831667, 47831723-47831734, 47831756-47831782, 47831927-47831933, 47832834-47832859, 47832870-47832904, 47836134, 47836715-47836717, 47848345-47848385, 47850557-47850571, 47851544-47851550, 47851665-47851668, 47851715-47851716, 47851837-47851842, 47851957, 47855979, 47858080-47858082, 47858093-47858099, 47859996-47860010, 47862485-47862486, 47863828-47863833, 47863839, 47863842-47863844
787PEX26220.948801742919394791818561182-18561188, 18561201-18561207, 18561211-18561233, 18561238, 18561243-18561245, 18566324-18566329
788PRODH220.83971159179146289180318904414, 18907304, 18908875, 18908898-18908907, 18908918-18908920, 18923528-18923800
789GP1BB220.08534621578099856862119711377-19711944
790TBX1220.33602150537634988148819747168-19747181, 19748428-19748803, 19753293-19753298, 19753306-19753307, 19753323-19753332, 19753337, 19753426-19753525, 19753912-19754390
791SMARCB1220.9179620034542395115824129357-24129449, 24175827, 24175830
792HPS4220.9758522727272751211226849224-26849227, 26849230-26849236, 26849264, 26849285, 26849290-26849292, 26859917-26859948, 26860321-26860322, 26860326
793CHEK2220.90573537762635166176129083905-29083923, 29083948-29083965, 29085160-29085197, 29091139-29091179, 29091737-29091764, 29091837-29091844, 29130654-29130664, 29130675-29130676, 29130683
794NF2220.995525727069358178830057204-30057211
795TCN2220.9805295950155825128431003319-31003343
796DRG1220.99456521739136110431816398-31816403
797SLC5A1220.9764411027568947199532464550-32464553, 32495193-32495235
798TIMP3220.937106918238994063633197988, 33198041-33198042, 33198047, 33198051-33198082, 33198085, 33253333-33253335
799LARGE220.998678996036993227133673195-33673197
800MYH9220.9930307666156741588336681987-36681989, 36684900, 36685236-36685237, 36688085-36688103, 36688106-36688108, 36688111-36688116, 36689827, 36697069-36697070, 36712683, 36718554, 36718559, 36745190
801TRIOBP220.95914342068188290709838109236-38109242, 38109248-38109256, 38109279, 38109286, 38119742-38119774, 38119798-38119804, 38119856-38119862, 38119883-38119921, 38120031-38120052, 38120150-38120156, 38120193-38120199, 38120297-38120303, 38120394-38120432, 38120480-38120486, 38121751, 38121755, 38121766-38121771, 38121778-38121781, 38122039, 38122047-38122049, 38122054, 38122067-38122070, 38122073, 38122332, 38122433, 38122436, 38122440, 38122447-38122449, 38122452, 38129411, 38129414-38129419, 38130683, 38130700, 38130906, 38136937-38136948, 38147835, 38153914-38153917, 38153928-38153935, 38153941-38153949, 38154093, 38161735-38161736, 38161762, 38161774-38161789, 38165164, 38165173, 38165179
802SOX10220.86509635974304189140138369822, 38369929-38369934, 38369937-38369939, 38369944-38369953, 38379372, 38379441, 38379491-38379501, 38379549-38379550, 38379638-38379791
803PLA2G6220.998760842627013242138528928-38528929, 38565241
804ADSL220.995189003436437145540760321-40760327
805EP300220.9924085576259555724541489061-41489062, 41513389-41513396, 41533704-41533711, 41536182, 41546126, 41546130-41546135, 41572419-41572420, 41573219-41573224, 41573387-41573389, 41573406, 41573413, 41573423-41573426, 41573772, 41574053, 41574058, 41574185, 41574190, 41574197-41574200, 41574207-41574209
806TNFRSF13C220.4468468468468530755542322118, 42322129-42322135, 42322145-42322148, 42322157-42322175, 42322196-42322335, 42322642-42322777
807CYB5R3220.974613686534222390643015795, 43015800, 43045301-43045321
808ATXN10220.92296918767507110142846067944-46068002, 46068010-46068059, 46136356
809TRMU220.9644549763033245126646731683-46731684, 46731687, 46731691-46731708, 46731722-46731743, 46746277, 46751383
810ALG12220.991820040899812146750303728, 50303731, 50307368-50307371, 50307378, 50307382-50307385, 50307388
811MLC1220.9559082892416250113450502470-50502472, 50502491, 50502495, 50502567-50502568, 50502579-50502620, 50523205
812SCO2220.99875156054931180150962680
813TYMP220.59903381642512581144950964199-50964347, 50964430-50964570, 50964675-50964883, 50964896-50964899, 50964904-50964905, 50965014-50965015, 50965022, 50965034, 50965037, 50965041, 50965045, 50965067-50965070, 50965073-50965075, 50965080-50965098, 50965122, 50965126-50965132, 50965143-50965146, 50965152-50965160, 50965163, 50967642-50967647, 50967665-50967675, 50967932, 50968109-50968110, 50968125
814ARSA220.91207349081365134152451063653, 51063656, 51063661-51063665, 51063667-51063668, 51063683, 51063686-51063693, 51063755, 51063776-51063780, 51063788, 51063793-51063796, 51063805, 51063820-51063849, 51063853-51063855, 51064039, 51064068, 51064095-51064102, 51064105-51064109, 51064384, 51064390-51064391, 51064445-51064481, 51065150, 51065153, 51065306, 51065337, 51065433, 51065448, 51065747-51065749, 51066181, 51066185, 51066188, 51066193-51066196
815SHANK3220.638062547673531898524451113070-51113132, 51113476-51113520, 51113563-51113608, 51113642-51113651, 51113658-51113661, 51133354-51133357, 51133366, 51133371, 51133374, 51135673-51135680, 51135690-51135719, 51135951-51136143, 51143195, 51143220-51143222, 51143229, 51158612-51158614, 51158622-51158631, 51158637, 51158703-51158704, 51158708-51158716, 51158724-51159347, 51159353-51159360, 51159375-51159378, 51159434-51159444, 51159448-51159470, 51159478-51159481, 51159493-51159496, 51159582-51159635, 51159674-51159675, 51159679-51159680, 51159687-51159693, 51159702-51159709, 51159754, 51159768, 51159771-51159773, 51159785, 51159796-51159802, 51159811, 51159872-51159876, 51159923-51159927, 51159936-51159940, 51159943-51159944, 51159948-51159960, 51159994-51160004, 51160015-51160062, 51160189-51160196, 51160227-51160236, 51160239, 51160285-51160286, 51160289-51160299, 51160302, 51160348-51160354, 51160549-51160555, 51160561-51160569, 51160575, 51160578-51160584, 51160605-51160606, 51160807, 51160822-51160824, 51160853, 51160856-51160862, 51169149-51169150, 51169162-51169167, 51169192-51169195, 51169201-51169229, 51169252-51169740
816SUMF130.962666666666674211254458884, 4508698-4508724, 4508742, 4508775-4508776, 4508854-4508857, 4508867-4508873
817ITPR130.997663838681911981334687362, 4706899-4706903, 4726842-4726845, 4726850-4726852, 4776874-4776879
818FANCD230.9780344202898697441610085197-10085216, 10085533-10085548, 10088340-10088346, 10091150-10091156, 10107078-10107093, 10114941-10114949, 10132048-10132069
819VHL30.852024922118389564210183668-10183673, 10183700-10183742, 10183775-10183820
820RAF130.997431946584495194712660118-12660122
821WNT7A30.9895238095238111105013860452, 13860618, 13860762-13860766, 13896255, 13896258-13896260
822XPC30.9932695713779719282314220011-14220013, 14220022, 14220032, 14220035-14220042, 14220052-14220057
823TGFBR230.9662731871838160177930648376-30648379, 30648392-30648405, 30648408, 30648426-30648466
824GLB130.9567354965585188203433099673-33099685, 33138503-33138577
825CRTAP30.61359867330017466120633155570-33156028, 33156034-33156040
826MLH130.999119330691332227137067198, 37067408
827SCN5A30.99881134318227588938592053, 38592059-38592062, 38622735, 38645408
828ABHD530.955238095238147105043732485-43732531
829TMIE30.6187363834422717545946742860-46743030, 46743041-46743044
830TMIE30.878980891719755747146742978-46743030, 46743041-46743044
831TREX130.9891891891891912111048508033-48508039, 48508087, 48508436, 48508447, 48508915-48508916
832COL7A130.9899264289756689883548602252, 48602631, 48607336-48607337, 48607343, 48612505-48612532, 48612779-48612787, 48612909-48612910, 48612916, 48612927, 48627035-48627043, 48627119-48627124, 48627135-48627151, 48629661-48629663, 48629669-48629671, 48629674-48629675, 48629678-48629680
833LAMB230.9959236612933122539749160369-49160370, 49162019, 49162712, 49162725, 49162880, 49162895, 49163236, 49166132, 49170017, 49170023-49170033, 49170047
834GNAT130.85849952516619149105350231077, 50231186-50231212, 50231235-50231283, 50231605-50231650, 50232198-50232199, 50232217-50232228, 50232237-50232244, 50232294-50232296, 50232337
835HYAL130.996941896024464130850338455, 50338465, 50338468, 50338505
836RFT130.9710947109471147162653138090, 53156417-53156441, 53156454, 53156533-53156534, 53156543-53156548, 53157761-53157766, 53157772-53157777
837TKT30.93162393162393128187253262107-53262116, 53263083, 53275222-53275231, 53289852-53289958
838HESX130.9910394265233555857232225-57232226, 57232230, 57232237-57232238
839FLNB30.9956460494301434780957994361, 57994369, 57994372, 57994413, 57994416, 57994440-57994446, 57994470-57994476, 58109155, 58116555-58116563, 58116585-58116588, 58134054
840PDHB30.998148148148152108058415445, 58419406
841ATXN730.87702607470049349283863898275-63898599, 63967981-63967991, 63968669-63968677, 63981832-63981835
842MITF30.9840051183621225156369788749-69788751, 69788760-69788774, 69788835, 69928423, 69998292, 69998296-69998299
843PROK230.923076923076923039071834142-71834166, 71834169, 71834172, 71834175-71834177
844ROBO230.999033115784384413777637972, 77637988, 77651568, 77684124
845GBE130.997629208155525210981754648, 81810605-81810607, 81810621
846PROS130.989167897587422203193595861, 93595905, 93595944, 93629514, 93646238-93646244, 93692558-93692563, 93692587-93692591
847ARL13B30.9984459984462128793761994, 93762013
848CPOX30.86300366300366187136598311860-98311865, 98311886, 98311889, 98311945-98311968, 98311979-98311983, 98312080, 98312097, 98312104-98312121, 98312133-98312139, 98312145-98312251, 98312256-98312261, 98312271, 98312273-98312280, 98312308
849IQCB130.9988870339454621797121547317-121547318
850CASR30.99104108742663293237121976194-121976202, 122003454-122003464, 122003516, 122003605-122003607, 122003640-122003644
851RAB7A30.998397435897441624128525259
852GP930.8408239700374585534128780710, 128780717-128780719, 128780892-128780894, 128780898-128780900, 128780903, 128780906, 128780909, 128780955-128780963, 128780968, 128780974-128780978, 128781012-128781061, 128781080-128781086
853RHO30.9952244508118451047129251379-129251383
854ATP2C130.9996491228070212850130716544
855NPHP330.931379914850992743993132438556-132438560, 132438564-132438565, 132438614-132438637, 132438645-132438656, 132438662-132438668, 132440849, 132440977-132441199
856PCCB30.996296296296361620135969358, 135969364-135969365, 135969369, 135969371, 135969387
857FOXL230.349248452696737361131138664456, 138664540, 138664560-138664567, 138664577-138664582, 138664592-138664596, 138664602-138665068, 138665084-138665161, 138665175, 138665184-138665195, 138665201-138665224, 138665251-138665252, 138665261-138665262, 138665278-138665284, 138665287-138665288, 138665334-138665371, 138665380-138665407, 138665417-138665454, 138665465-138665472, 138665512, 138665520-138665521, 138665524-138665527, 138665564
858PLOD230.97189284145806642277145795690-145795702, 145799628, 145803055, 145804622-145804629, 145809597-145809611, 145828162, 145878734-145878758
859HPS330.98905472636816333015148847545-148847557, 148847564, 148847574, 148847579-148847585, 148847696-148847697, 148885762-148885770
860GFM130.999113475177322256158399924, 158399928
861IFT8030.9965635738831682328160075337-160075340, 160099325, 160099478-160099480
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897PKD240.81355349157207542290788928886-88929412, 88929429-88929435, 88929471-88929475, 88929478-88929479, 88983127
898SNCA40.971631205673761242390749319-90749322, 90749333, 90756698, 90756701-90756702, 90756705-90756708
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904CFI40.9994292237442911752110673646
905GAR140.998470948012231654110745150
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914ETFDH40.9989212513484421854159603405-159603406
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921SLC6A350.99731615673645518631414811, 1414881-1414883, 1414886
922SDHA50.79510703363914673271593352-1593358, 1594510-1594569
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926ANKH50.9932386747802610147914749298, 14758614, 14871461-14871467, 14871480
927FAM134B50.78982597054886314149416616767-16617080
928SLC45A250.9905838041431315159333984429-33984442, 33984445
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931LIFR50.997874924104437329438484957, 38506140-38506144, 38506147
932OXCT150.999360204734481156341853630
933GHR50.998956703182062191742695072, 42695075
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935ITGA250.9842075578116256354652285301-52285351, 52351906, 52351910, 52379173, 52386426, 52386429
936MOCS250.99625468164794126752405549
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941AP3B150.992389649923925328577411987-77411990, 77412005-77412007, 77412017-77412018, 77412027, 77524014, 77536752, 77536758-77536760, 77563404-77563410, 77563414-77563416
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947PCSK150.998231653404074226295743984, 95743996-95743997, 95764951
948WDR3650.98494397759104432856110432795-110432796, 110436416, 110436419, 110441763, 110448773-110448781, 110448830-110448843, 110454711-110454722, 110459618-110459620
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964PPP2R2B50.99699699699741332146077673-146077676
965SPINK550.9996955859969613285147466082
966SH3TC250.9984484096198663867148384420-148384421, 148384427, 148407391, 148407409-148407410
967PDE6A50.9972899728997372583149240493-149240498, 149274778
968TCOF150.98737373737374554356149737310-149737314, 149737322-149737329, 149737360, 149737385, 149737388-149737395, 149737405-149737415, 149748355, 149751763, 149751777, 149754322-149754332, 149755449-149755453, 149755777, 149755800
969GLRA150.97161572052402391374151239520-151239532, 151266315-151266326, 151304059-151304072
970ITK50.9978529253891641863156679629, 156679632-156679634
971NIPAL450.901498929336191381401156887212-156887230, 156887247-156887365
972GABRA150.9992706053975211371161324199
973NKX2-550.9056410256410392975172659705, 172659919-172659921, 172660041-172660042, 172660054, 172660122-172660124, 172660127-172660132, 172660142-172660147, 172660149, 172660151-172660157, 172661839, 172661856-172661895, 172661898, 172661905-172661906, 172661986, 172661989, 172662003-172662015, 172662022-172662024
974MSX250.7363184079602212804174151700-174151911
975NSD150.9987640588308108091176694571, 176694575, 176709577-176709582, 176719082, 176719085
976F1250.99140893470795582176830282, 176830311, 176830317-176830319
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978PROP150.997063142437592681177422876, 177422881
979NHP250.9956709956712462177580759, 177580768
980GRM650.811693242217164962634178413323, 178413517-178413519, 178413542-178413547, 178413692-178413695, 178413885, 178413891-178413893, 178415951-178415954, 178416025-178416038, 178417632-178417635, 178417638-178417643, 178421452, 178421461, 178421483-178421485, 178421501-178421945
981SQSTM150.832199546485262221323179247937-179248141, 179260127-179260133, 179260142-179260145, 179260190-179260192, 179260195-179260197
982FLT450.914711632453573494092180038332-180038334, 180038339, 180038348-180038350, 180045770-180045789, 180045803-180045822, 180045825-180045829, 180045832-180045836, 180045847-180045850, 180045854, 180045868-180045871, 180045885-180045892, 180045908, 180045914-180045919, 180046021-180046109, 180046320-180046361, 180046740-180046744, 180046747, 180046750, 180047957, 180048145-180048158, 180048748, 180048760, 180050971-180050972, 180050983-180050987, 180051003, 180051042-180051046, 180051052, 180056696-180056720, 180057023-180057024, 180057027-180057032, 180057043-180057046, 180057102-180057105, 180076488-180076545
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984TUBB2B60.93721973094178413383225038, 3225124, 3225155, 3225264, 3225271, 3225388, 3225442-3225495, 3225562-3225583, 3227721-3227722
985DSP60.991875580315697086167542207-7542253, 7564001, 7564004-7564006, 7564018, 7581006, 7583602-7583610, 7586051-7586058
986TFAP2A60.9863013698630118131410398772, 10404755-10404756, 10404759-10404760, 10404765-10404767, 10410292, 10410341-10410344, 10410529, 10410541-10410542, 10410546, 10410549
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989NHLRC160.9175084175084298118818122465, 18122545-18122547, 18122553, 18122666-18122677, 18122689-18122699, 18122712-18122736, 18122788-18122818, 18122824-18122837
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991HLA-H60.8306666666666712775029855846-29855850, 29855858, 29855861-29855880, 29855893-29855895, 29855901, 29855928, 29855940, 29855960-29855998, 29856273-29856279, 29856356-29856357, 29856361-29856362, 29856371, 29856421, 29856424-29856427, 29856433, 29856436, 29856439, 29856442-29856445, 29856453, 29856456, 29856481-29856508, 29856643, 29856686
992NEU160.996794871794874124831829822-31829825
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994CYP21A260.88440860215054172148832006202-32006254, 32006317, 32006337, 32007404-32007410, 32007787-32007793, 32007843-32007849, 32007887, 32007956-32007970, 32008183-32008201, 32008448-32008454, 32008689-32008725, 32008749, 32008752, 32008893-32008907
995TNXB60.98609474428471771272932009648-32009664, 32009877-32009905, 32010123-32010129, 32010269-32010289, 32010728-32010735, 32011232-32011251, 32012300-32012336, 32012814-32012820, 32035476, 32035488, 32035492-32035495, 32040018, 32040023, 32040034-32040037, 32040046-32040050, 32056665, 32063954, 32064146, 32064149, 32064320, 32064330-32064332, 32064487, 32064503, 32064651-32064654
996HLA-DQA160.972656252176832610387-32610406, 32610436
997HLA-DQB160.7862595419847316878632629224-32629234, 32629847, 32629859, 32629963, 32632575-32632651, 32632657-32632669, 32632688-32632742, 32632745, 32632748-32632752, 32632756, 32632818, 32632832
998COL11A260.95874112454423215521133132663-33132676, 33135221-33135232, 33135243-33135248, 33135254-33135255, 33137222-33137226, 33138113, 33138124-33138126, 33138132-33138135, 33138146-33138156, 33138334-33138337, 33139283, 33139520-33139529, 33139540, 33139544-33139553, 33139562-33139567, 33139570, 33139837, 33139843, 33140066-33140089, 33140112, 33140117-33140121, 33140130-33140151, 33140154-33140155, 33140334, 33140356, 33140358-33140367, 33140372-33140383, 33141657, 33141660, 33141680-33141703, 33159968, 33159977-33159979, 33159984-33159995, 33159998, 33160001
999SYNGAP160.87772817460317493403233388042-33388108, 33393575-33393680, 33399987-33400024, 33400547, 33400560, 33405795, 33405819-33405824, 33405829, 33408559-33408562, 33409062, 33409068, 33409071-33409072, 33409149, 33409465-33409472, 33410937-33410938, 33410959, 33410966-33410967, 33410970, 33410977, 33410982-33410988, 33411172-33411178, 33411203, 33411279-33411280, 33411432, 33411446, 33411473-33411698, 33411718, 33411722, 33419626
1000FANCE60.88019863438858193161135420323-35420431, 35420437-35420450, 35420461-35420509, 35420545-35420546, 35420555-35420563, 35420570, 35425343-35425350, 35425356
1001TULP160.9459791282995788162935473887, 35479497-35479532, 35479571-35479580, 35479964-35479973, 35479981, 35479998-35480005, 35480013-35480026, 35480029-35480032, 35480035-35480038
1002MOCS160.9748822605965548191139874259-39874296, 39874745, 39877624-39877632
1003TREM260.998556998557169341129181
1004GUCA1A60.996699669967260642146981-42146982
1005PRPH260.9827089337175818104142672153, 42672156, 42672163-42672167, 42672171-42672177, 42672180-42672183
1006PEX660.91199456337071259294342936672-42936673, 42936679, 42936697, 42946353, 42946358, 42946368, 42946388-42946389, 42946395, 42946432-42946433, 42946443-42946448, 42946457-42946459, 42946469-42946470, 42946477-42946485, 42946489-42946491, 42946532-42946741, 42946789, 42946812-42946820, 42946827-42946828, 42946831-42946832
1007CUL760.9899941141848151509743005654-43005658, 43005668-43005677, 43008803-43008805, 43008808, 43013007, 43013010, 43013326-43013329, 43016196-43016213, 43018948-43018955
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1009RUNX260.86781609195402207156645390330-45390534, 45480049, 45480052
1010CD2AP60.998958333333332192047563644, 47563648
1011MUT60.9813581890812342225349403282, 49409638-49409643, 49409646-49409648, 49409683-49409684, 49419397, 49419414, 49421320-49421333, 49421382, 49423938-49423950
1012PKHD160.99312883435583841222551484087-51484091, 51497426-51497463, 51768835, 51929789-51929828
1013EYS60.999152093269748943566005970, 66044950, 66063510, 66200542-66200543, 66204615, 66204786, 66204789
1014LMBRD160.9772027110289637162370407455-70407456, 70423548, 70447840, 70506727-70506733, 70506748-70506773
1015COL9A160.9859002169197439276670972947-70972965, 70981381, 70981385-70981391, 70990533-70990534, 70990707-70990716
1016RIMS160.94703681827131269507972596735-72596737, 72596745, 72678686, 72678697, 72678703, 72678710-72678718, 72806837, 72892042, 72892052, 72892073-72892099, 72892120-72892147, 72892187-72892193, 72892257, 72892261, 72892289-72892292, 72892296, 72892299, 72892308-72892316, 72892323-72892331, 72892333-72892367, 72892370, 72892377, 72892382, 72892388-72892396, 72892404-72892452, 72892484, 72892489, 72892496, 72892510-72892524, 72892527, 72892588-72892592, 72892597-72892598, 72892612, 72892771, 72892781, 72892788, 72892791-72892799, 72945341, 72945426, 72945429, 72974692-72974699, 73001688-73001691, 73023315, 73108747-73108748, 73108755, 73108758-73108762, 73108775-73108776, 73108787
1017SLC17A560.9361559139784995148874331651, 74363516-74363609
1018MYO660.9958527734577516385876558139-76558153, 76602406
1019LCA560.9947468958930311209480196875, 80196932, 80196966, 80203435-80203442
1020ELOVL460.99047619047619994580656915-80656921, 80656986-80656987
1021BCKDHB60.9745547073791330117980816493-80816514, 80881055-80881062
1022SLC35A160.998027613412232101488182729, 88182732
1023NDUFAF460.859848484848487452897338980-97339015, 97339028-97339064, 97339078
1024SIM160.98956975228162242301100868712-100868715, 100868725-100868730, 100896034-100896039, 100897488, 100897501-100897507
1025PDSS260.9991666666666711200107780311
1026SEC6360.96276828734122852283108230154, 108243102, 108279091-108279098, 108279128-108279197, 108279209-108279213
1027OSTM160.93034825870647701005108366024-108366025, 108375789, 108395566-108395567, 108395600, 108395607, 108395669, 108395755-108395757, 108395762-108395768, 108395775-108395804, 108395810-108395818, 108395830, 108395835-108395843, 108395847, 108395854-108395855
1028FIG460.999632892804712724110053884
1029WISP360.9991063449508511119112389585
1030COL10A160.999510523739612043116442288
1031RSPH4A60.97164109716411612151116937976-116938012, 116938364-116938379, 116938387-116938389, 116938392, 116938403-116938406
1032GJA160.98868581375109131149121769097, 121769100-121769104, 121769107, 121769110, 121769113, 121769116-121769119
1033LAMA260.988892449001391049363129204396, 129204399, 129513887-129513888, 129513937-129513940, 129513943-129513944, 129513972, 129635852, 129635864, 129635875-129635881, 129635906-129635943, 129670499, 129670506-129670507, 129670524-129670526, 129670529, 129674442-129674452, 129674457, 129674462-129674472, 129704305-129704308, 129824395-129824406
1034ARG160.9865841073271413969131904292-131904304
1035ENPP160.926565874730022042778132129176-132129278, 132129306-132129315, 132129320-132129325, 132129348-132129354, 132129364-132129369, 132129372, 132171210, 132203485-132203490, 132203497, 132203510-132203548, 132203554-132203568, 132207702-132207710
1036EYA460.9958333333333381920133767820-133767825, 133783602-133783603
1037AHI160.9997215260373213591135759579
1038PEX760.88271604938272114972137143804-137143916, 137143928
1039IFNGR160.9959183673469461470137519703-137519706, 137524716-137524717
1040PEX360.9964349376114141122143792122-143792123, 143792126, 143792586
1041PLAGL160.998563218390821392144263606-144263607
1042STX1160.8865740740740798864144507806-144507813, 144507824-144507846, 144507966-144507976, 144507995, 144507998-144508000, 144508014, 144508103, 144508365-144508374, 144508377-144508380, 144508396-144508402, 144508600-144508628
1043EPM2A60.69678714859438302996145956386, 146056334-146056634
1044IYD60.9793103448275918870150719235-150719237, 150719245, 150719253, 150719258-150719263, 150719308-150719309, 150719312-150719314, 150719319-150719320
1045SYNE160.9944305523982714726394152454416, 152454556-152454565, 152454568, 152454572-152454573, 152457789-152457790, 152461139-152461141, 152461146-152461152, 152461155-152461156, 152461161-152461164, 152461167-152461175, 152462391-152462404, 152532674, 152532692, 152532698, 152545714-152545716, 152545779-152545782, 152545786, 152545795-152545799, 152558023, 152558026, 152558036-152558040, 152603082-152603084, 152630985, 152631574, 152644670, 152644704-152644705, 152644724, 152644728-152644736, 152644758-152644765, 152665286-152665292, 152665297-152665304, 152702444-152702449, 152702455, 152712418-152712423, 152720766-152720769, 152725429-152725431, 152725441-152725446, 152728188, 152749498
1046PARK260.98283261802575241398161969935-161969938, 161969945, 161969948-161969952, 161969967, 161969972-161969976, 162683595, 163148694-163148700
1047TBP60.90392156862745981020170871010-170871013, 170871021-170871024, 170871032-170871108, 170871113-170871118, 170871129-170871135
1048LFNG70.6789473684210536611402559496-2559850, 2559880-2559881, 2559886, 2559908, 2564357, 2564898-2564899, 2565092, 2565983, 2565993, 2566014
1049PMS270.982618771726544525896013084, 6013150-6013157, 6022477, 6022485-6022486, 6026988, 6029443-6029450, 6036985-6036986, 6043603-6043624
1050TWIST170.3596059113300539060919156555-19156944
1051DNAH1170.99358974358974871357221582926, 21583030, 21583039, 21583201-21583214, 21630907-21630916, 21630922-21630930, 21630938, 21630944-21630948, 21630951, 21882308-21882322, 21894018-21894046
1052DFNA570.9885982562038917149124742427-24742428, 24742431-24742440, 24758791, 24758795, 24758800-24758801, 24758818
1053HOXA170.9880952380952412100827135314-27135321, 27135344, 27135397, 27135401-27135402
1054HOXA1370.51756640959726563116727238888-27238918, 27238922-27238926, 27239030-27239031, 27239087, 27239102-27239115, 27239187-27239696
1055GARS70.9639639639639680222030634570-30634602, 30634661, 30634679-30634724
1056RP970.7717717717717715266633148833-33148984
1057BBS970.997747747747756266433296922, 33303926-33303929, 33303950
1058GLI370.92620704195657350474342004485, 42004652, 42004788-42004815, 42004891-42004896, 42005077-42005083, 42005103-42005129, 42005222-42005244, 42005250, 42005256, 42005265-42005266, 42005320, 42005511, 42005515-42005522, 42005528-42005533, 42005544-42005550, 42005556-42005636, 42005640-42005642, 42005651-42005653, 42005658-42005659, 42005678-42005680, 42005683, 42005687-42005688, 42005710, 42005729-42005731, 42005771-42005802, 42005848, 42005853, 42005876, 42005880, 42005888, 42005898-42005900, 42005925, 42005938-42005962, 42006045-42006093, 42006217, 42007472-42007480, 42187896-42187901
1059GCK70.9921484653818711140144185191, 44185212, 44185215-44185216, 44186080-44186084, 44186096, 44192915
1060CCM270.9588014981273455133545039933-45039962, 45077978, 45113137-45113152, 45113157, 45113160, 45113911, 45113915-45113918, 45113922
1061DDC70.9993069993071144350597001
1062GRB1070.997759103641464178550663155-50663156, 50673029, 50771532
1063EGFR70.96421690063309130363355086971-55087058, 55214314-55214320, 55214348, 55214369, 55214381, 55220265, 55220279, 55220282, 55220286-55220291, 55229240-55229262
1064GUSB70.9902862985685119195665446967, 65446970-65446973, 65446998, 65447018, 65447033, 65447060, 65447067-65447069, 65447132, 65447136, 65447139-65447140, 65447150, 65447169-65447170
1065ASL70.90035842293907139139565551807-65551808, 65553846, 65553886, 65553891, 65554078-65554142, 65554151-65554156, 65554161-65554162, 65554263-65554297, 65554320-65554322, 65557829-65557851
1066KCTD770.8344827586206914487066094052-66094195
1067SBDS70.9933598937583575366460277-66460281
1068NCF170.930909090909095782572640033-72640040, 72643704-72643710, 72645924-72645930, 72648716-72648750
1069ELN70.9687356321839168217573442525-73442568, 73442586, 73457004-73457006, 73466266-73466271, 73466283-73466285, 73466288-73466290, 73477672-73477674, 73477677, 73480275-73480278
1070NCF170.79539641943734240117374191613-74191619, 74193642, 74193645, 74193668, 74197911-74197917, 74202396-74202432, 74202903, 74202917-74202943, 74202954-74203048, 74203383-74203444, 74203504
1071POR70.93881546744983125204375610447-75610453, 75614153, 75614209-75614214, 75614231, 75614237-75614244, 75614247, 75614252-75614265, 75614276, 75614421-75614430, 75614434-75614459, 75614465-75614487, 75614505-75614525, 75614999-75615003, 75615156
1072HSPB170.868932038834958161875932061, 75932065, 75932080, 75932170-75932174, 75932194, 75932203-75932204, 75932232-75932234, 75932276-75932327, 75932336, 75932340, 75932345, 75932359-75932366, 75932391-75932393, 75933441
1073CD3670.998590556730092141980285976-80285977
1074HGF70.9835390946502136218781399248-81399250, 81399255-81399287
1075ABCB470.9947916666666720384087031470-87031482, 87037419-87037425
1076AKAP970.99368816103719741172491609604, 91609611, 91609618, 91609625, 91609629-91609633, 91609636-91609638, 91625102, 91630241-91630268, 91674405, 91691761-91691762, 91694640, 91700260, 91706245, 91706289, 91712683-91712686, 91714911-91714912, 91714915-91714918, 91714924, 91722435-91722437, 91732046-91732049, 91732086-91732093
1077KRIT170.998643147896883221191844042-91844043, 91852217
1078PEX170.9849428868120558385292122373, 92140308-92140320, 92148335, 92157621-92157631, 92157645-92157675, 92157731
1079COL1A270.97317727383565110410194030908, 94030914, 94030916-94030932, 94033911-94033912, 94037167, 94040400, 94047066, 94049548, 94049563, 94049566, 94049715-94049719, 94050338, 94052379, 94056500-94056505, 94056572-94056607, 94058562-94058570, 94058581-94058591, 94058705-94058707, 94058711, 94058716, 94058719-94058723, 94058739-94058742
1080SGCE70.9837758112094422135694230055-94230060, 94248130, 94252652-94252654, 94252658-94252659, 94252663, 94285303-94285305, 94285402-94285407
1081SLC25A1370.9714426390940458203195750998, 95751009-95751011, 95751287-95751306, 95799357-95799370, 95820472-95820476, 95951254-95951268
1082TFR270.9592684954281982406100218664-100218667, 100218691, 100224508-100224526, 100224941, 100224944, 100224953, 100225860-100225863, 100228637, 100230665-100230669, 100230690-100230695, 100230699, 100230710-100230711, 100230714, 100230717, 100230720-100230726, 100230902-100230914, 100231047-100231072, 100238659-100238661, 100239122
1083SLC26A570.9964205816554882235103017276, 103017281, 103017290-103017295
1084RELN70.993832514214136410377103191590-103191592, 103191622-103191631, 103191653-103191656, 103191662, 103191669-103191675, 103234799, 103234803, 103234808-103234809, 103244837-103244848, 103629696, 103629699, 103629734, 103629740-103629745, 103629748-103629750, 103629775-103629781, 103629800-103629803
1085SLC26A470.97012377294067702343107302087-107302124, 107302135-107302141, 107323647-107323662, 107323700, 107323950, 107323960, 107323964, 107323976-107323977, 107329499, 107329504, 107329507
1086SLC26A370.99477124183007122295107408283-107408290, 107414419, 107432347, 107432361, 107432372
1087IFRD170.96165191740413521356112090786, 112090792-112090797, 112090812-112090817, 112090821-112090837, 112102133, 112102150-112102169, 112102172
1088MET70.99640546369518154173116397802-116397816
1089CFTR70.976817465676341034443117144320, 117144344-117144345, 117188713-117188753, 117188760-117188800, 117188841-117188853, 117234997, 117235048-117235050, 117251787
1090AASS70.99280834232291202781121758466-121758469, 121769523-121769538
1091IMPDH170.863888888888892451800128045821-128045919, 128049810-128049955
1092FLNC70.969063340670092538178128470692-128470725, 128470774-128470798, 128470813-128470828, 128470838, 128470841, 128470847-128470857, 128470868-128470881, 128470892-128470939, 128471004-128471025, 128475521, 128477257-128477274, 128477281-128477311, 128477561, 128477599, 128482639-128482640, 128482676-128482677, 128482683-128482688, 128482692, 128482741, 128488663, 128488672, 128488687-128488690, 128492772, 128498187-128498193, 128498432-128498434
1093ATP6V0A470.953230281411021182523138394371-138394379, 138394382, 138394387, 138394390-138394391, 138394397, 138394430-138394463, 138394477-138394521, 138437370-138437390, 138437425-138437428
1094BRAF70.953933072577141062301140434541, 140434567-140434570, 140494199, 140624379-140624436, 140624462-140624503
1095PRSS170.85752688172043106744142458434-142458454, 142459625-142459629, 142459664-142459682, 142459868-142459878, 142460313, 142460335, 142460339, 142460366-142460397, 142460733-142460747
1096CLCN170.98887765419616332967143017807, 143020435-143020436, 143042687-143042703, 143042753, 143043308, 143043319, 143043324, 143043327, 143043331-143043333, 143043336-143043340
1097CNTNAP270.973223223223221073996145813969-145814010, 145814023-145814033, 146741005-146741016, 146741019-146741020, 147869355-147869357, 147914465-147914501
1098KCNH270.6959770114942510583480150643974-150643980, 150644044, 150644072, 150644086, 150644127-150644142, 150644416-150644436, 150644460-150644472, 150644478, 150644482, 150644490-150644491, 150644496-150644500, 150644528-150644602, 150644694-150644834, 150644849, 150644901-150644942, 150645534, 150645537-150645542, 150645545, 150645556, 150645591-150645599, 150645603, 150648140, 150648664-150648666, 150648685-150648689, 150648843, 150648876-150648923, 150654411, 150654543, 150655161-150655163, 150655167-150655169, 150655177, 150655180-150655188, 150655209-150655560, 150671823-150672029, 150674926-150675001
1099PRKAG270.95789473684211721710151329155-151329224, 151573615, 151573627
1100SHH70.582433405327575801389155595594-155596067, 155596073-155596119, 155596151-155596159, 155596179, 155596185, 155596189-155596191, 155596198-155596203, 155596206-155596207, 155596212-155596228, 155596239, 155596301-155596317, 155596344, 155596357
1101MNX170.182421227197359861206156798214-156798456, 156798466-156798506, 156798540-156798567, 156799202-156799218, 156799249-156799294, 156799304-156799325, 156802387-156802390, 156802393, 156802396-156802397, 156802403-156802408, 156802413-156802432, 156802454-156802463, 156802473, 156802485, 156802488-156802493, 156802507-156803044
1102MCPH180.99760765550239625086264206-6264210, 6299598
1103GATA480.62904439428141493132911565835-11565838, 11565878-11565922, 11565952-11565956, 11565966-11565969, 11565986-11566362, 11566376-11566379, 11566390-11566392, 11566397-11566400, 11566405, 11566411-11566417, 11614520-11614552, 11614577-11614582
1104TUSC380.9188156638013485104715397954, 15397958, 15397967-15398046, 15398049-15398051
1105ASAH180.9898989898989912118817915080, 17924754, 17941502, 17941506, 17941517-17941520, 17941523-17941526
1106LPL80.998599439775912142819810849, 19810853
1107NEFL80.90747549019608151163224813053, 24813139-24813140, 24813199-24813205, 24813215-24813260, 24813398-24813403, 24813407, 24813411, 24813416-24813432, 24813443, 24813447, 24813540, 24813544, 24813551-24813555, 24813558, 24813641-24813675, 24813684-24813708
1108CHRNA280.9503144654088179159027320519-27320521, 27320581-27320627, 27320646-27320655, 27320843-27320846, 27320857-27320859, 27320874-27320876, 27320879, 27320899-27320900, 27321077-27321081, 27327343
1109ESCO280.9872646733111823180627633928-27633935, 27634467-27634470, 27637756, 27660879-27660886, 27660946-27660947
1110FGFR180.999187982135612246338287239, 38287444
1111ADAM980.9906504065040623246038854612, 38854669-38854675, 38880763-38880767, 38880788-38880795, 38959441-38959442
1112ANK180.97541271513874140569441554221-41554227, 41561590, 41563685, 41563688, 41572530, 41572533, 41583397, 41583421, 41753873-41753998
1113THAP180.975077881619941664242693251-42693263, 42698219-42698221
1114HGSNAT80.92557651991614142190842995640-42995757, 43024348-43024357, 43025787-43025791, 43025805-43025807, 43025811, 43025813-43025814, 43047524, 43047531-43047532
1115RP180.9984546437953910647155533634-55533636, 55533918, 55533921-55533922, 55533936-55533939
1116CHD780.9957749610851738899461654430, 61654488-61654489, 61654492, 61734381, 61734451, 61734583-61734585, 61734587-61734591, 61748719-61748723, 61748726, 61749490, 61777697-61777700, 61778283-61778288, 61778298-61778301, 61778305-61778307
1117TTPA80.7562724014336920483763998377-63998580
1118CYP7B180.9197896120973122152165711023-65711144
1119EYA180.998875772906132177972211328, 72211343
1120TMEM7080.896551724137938178374888517-74888570, 74888607-74888613, 74888616-74888627, 74888640-74888646, 74888649
1121CA280.956577266922093478386376311-86376344
1122NBN80.9827814569536439226590967545-90967552, 90983450-90983468, 90983482-90983485, 90996763-90996769, 90996777
1123DECR180.996031746031754100891057154-91057157
1124TMEM6780.994645247657316298894777663-94777666, 94777672-94777675, 94777685-94777686, 94777693-94777695, 94777819, 94777822, 94827549
1125GDF680.52558479532164649136897156898-97156929, 97156935-97156948, 97156986-97156987, 97157005, 97157008, 97157021, 97157033, 97157036-97157038, 97157069, 97157153-97157175, 97157183-97157190, 97157202-97157676, 97157740, 97157748, 97172646, 97172663, 97172676, 97172698-97172699, 97172709, 97172727-97172746, 97172788, 97172813-97172817, 97172831, 97172845-97172889, 97172893, 97172896, 97172908, 97172917-97172920
1126VPS13B80.994747373686846311994100108587, 100123365, 100123397, 100123405-100123406, 100123409-100123434, 100123437, 100146926-100146930, 100160069-100160071, 100494004-100494008, 100513925, 100513934-100513936, 100513948, 100523673-100523677, 100654627-100654632, 100844597-100844598
1127GRHL280.9957401490947881878102555624-102555627, 102631791-102631794
1128RRM2B80.9990530303030311056103231153
1129DPYS80.835256410256412571560105478885-105479122, 105479130-105479148
1130TRPS180.997425997426103885116599455-116599460, 116617034-116617037
1131EXT180.9964301651048682241119122637-119122644
1132TNFRSF11B80.9941956882255471206119945249, 119964032, 119964039-119964043
1133KIAA019680.99511494252874173480126091156-126091172
1134KCNQ380.926689576174111922619133492469-133492474, 133492496, 133492544-133492625, 133492635-133492649, 133492674-133492681, 133492700-133492779
1135TG80.9989165763813798307133882071, 133883722, 133900303-133900305, 133909972-133909974, 133912565
1136NDRG180.957805907173501185134251145-134251152, 134251214, 134251228-134251233, 134251247-134251249, 134274292-134274318, 134274325-134274329
1137CYP11B180.922619047619051171512143956373-143956385, 143956653-143956657, 143956662, 143957195-143957239, 143958512-143958533, 143958572-143958602
1138CYP11B280.847222222222222311512143993946-143994005, 143994026-143994075, 143994263-143994293, 143994701-143994702, 143994712, 143994724, 143994768-143994786, 143996314-143996315, 143996536-143996569, 143996595-143996625
1139PLEC80.73660618996798370214055144990392-144990399, 144990404, 144990410, 144990460, 144990482-144990483, 144990489-144990493, 144990502-144990514, 144990533-144990540, 144990580-144990585, 144990591-144990604, 144990609-144990610, 144990717-144990737, 144990742-144990763, 144990766, 144990771, 144990774-144990785, 144990803-144990805, 144990833-144990837, 144990840-144990841, 144990864, 144990868-144990869, 144991048-144991054, 144991647, 144991966-144991981, 144992003-144992006, 144992020, 144992331-144992333, 144992361, 144992366, 144992379, 144992384, 144992399-144992400, 144992403-144992405, 144992410-144992414, 144992535-144992536, 144992558-144992560, 144992588-144992596, 144992599-144992618, 144992702-144992743, 144992792-144992794, 144992805-144992828, 144992970, 144993064, 144993069-144993070, 144993074, 144993235, 144993376-144993378, 144993385, 144993392, 144993487, 144993591-144993619, 144993713, 144993717, 144993720-144993722, 144993736, 144993753, 144993884-144993893, 144993934-144993973, 144994018, 144994021-144994022, 144994070-144994071, 144994199-144994239, 144994357, 144994386, 144994391-144994403, 144994458-144994460, 144994463-144994464, 144994469, 144994479, 144994584-144994588, 144994594, 144994726-144994757, 144994967-144994971, 144994980-144994982, 144994985-144994988, 144995007-144995049, 144995057-144995084, 144995102-144995108, 144995361, 144995384-144995387, 144995391, 144995395, 144995537-144995580, 144995675-144995678, 144995736, 144995748-144995750, 144995789, 144995803-144995804, 144995820-144995837, 144996166-144996167, 144996189, 144996206-144996209, 144996220-144996265, 144996379-144996411, 144996526-144996539, 144996543-144996550, 144996677-144996729, 144996760-144996764, 144996776, 144996794, 144996830-144996858, 144996939-144996963, 144996975-144996978, 144996986-144996996, 144997014-144997040, 144997078-144997153, 144997170-144997189, 144997232-144997235, 144997254, 144997367-144997368, 144997376-144997378, 144997427-144997488, 144997498-144997517, 144997522-144997523, 144997564, 144997578, 144997609-144997612, 144997622-144997631, 144997675-144997677, 144997680-144997689, 144997704, 144997717, 144997748-144997794, 144997806-144998029, 144998046-144998118, 144998125, 144998128-144998129, 144998135-144998140, 144998153, 144998155-144998156, 144998161, 144998164-144998171, 144998174, 144998190, 144998200-144998206, 144998216-144998230, 144998243, 144998246, 144998254-144998264, 144998269-144998275, 144998280-144998291, 144998308-144998314, 144998329-144998344, 144998353-144998365, 144998368-144998381, 144998387-144998483, 144998491-144998509, 144998557-144998587, 144998612-144998660, 144998676-144998733, 144998750-144998822, 144998834-144998981, 144998990-144998994, 144998998, 144999004-144999005, 144999011, 144999026-144999094, 144999120-144999711, 144999719-144999943, 144999957-144999967, 144999972-144999973, 144999977-144999983, 144999992-144999993, 145000006-145000009, 145000016, 145000019-145000024, 145000033-145000039, 145001031, 145001578-145001598, 145001652-145001663, 145001670-145001682, 145001688, 145001705-145001712, 145001720-145001733, 145001738, 145001744, 145001876, 145001880-145001882, 145001890, 145001927-145001928, 145002071-145002074, 145003271-145003277, 145003284-145003434, 145003448-145003449, 145003582-145003607, 145003634-145003680, 145003713, 145003814-145003851, 145003864-145003891, 145003945-145003948, 145003961-145003997, 145004146, 145004150, 145004181-145004186, 145004213, 145004216, 145004317-145004323, 145004329-145004336, 145004347-145004351, 145004362-145004387, 145004399, 145004461-145004465, 145004554, 145004565-145004567, 145004580-145004590, 145005715, 145005723-145005729, 145005816, 145005824-145005827, 145006192-145006196, 145006199-145006200, 145006310-145006317, 145006323-145006341, 145006362-145006379, 145006389-145006391, 145006398, 145006402, 145006603-145006622, 145006669, 145006680, 145006684, 145006803-145006835, 145006866, 145007006-145007021, 145007035-145007039, 145007119-145007122, 145007153, 145007156, 145008168, 145008174-145008182, 145008193, 145008258-145008259, 145008501, 145009087, 145009090, 145009092, 145010121, 145010124-145010125, 145024708, 145024718, 145024721, 145024724-145024727
1140GPT80.702213279678074441491145730629-145730674, 145730685, 145730767-145730770, 145730781, 145730794-145730803, 145730871-145730872, 145731235-145731310, 145731378-145731383, 145731399-145731433, 145731439-145731514, 145731616-145731622, 145731668-145731728, 145731884-145731945, 145731953-145731957, 145731960, 145731966-145731968, 145731975-145731976, 145731998-145732039, 145732294, 145732303-145732305
1141RECQL480.890818858560793963627145737816, 145737881, 145738297-145738298, 145738637-145738675, 145738691-145738697, 145738716-145738749, 145738766-145738768, 145738770-145738776, 145738785-145738791, 145738798-145738804, 145738810-145738818, 145738836-145738845, 145738854-145738856, 145738969-145738977, 145738988-145738995, 145739000-145739001, 145739009, 145739012, 145739073-145739096, 145739411-145739418, 145739457-145739464, 145739475-145739481, 145741909, 145742499, 145742543-145742555, 145742559-145742571, 145742809-145742850, 145742860-145742861, 145742873-145742874, 145742879, 145742888-145742892, 145742986-145743019, 145743085-145743168
1142DOCK890.977619047619051416300214977-215029, 332420, 334336, 371528, 371531-371533, 371536-371539, 371543, 371548-371553, 376998, 406982, 407008, 446522-446555, 446604-446606, 452023-452028, 452035-452059
1143VLDLR90.981311975591154926222622190-2622231, 2622252, 2622256, 2622259, 2651917-2651918, 2651923, 2651928
1144KCNV290.8620268620268622616382717986-2718028, 2718033, 2718207-2718208, 2718219-2718221, 2718281, 2718308, 2718348, 2718396-2718399, 2718402, 2718407-2718417, 2718425, 2718446-2718447, 2718455, 2718462, 2718466, 2718469-2718470, 2718534, 2718596-2718645, 2718683-2718706, 2718720-2718767, 2718931, 2718942-2718947, 2718950-2718951, 2718954-2718963, 2718970-2718977
1145GLIS390.9248120300751921027934117801-4117803, 4117823-4117844, 4117850, 4117855-4117858, 4117931, 4118028-4118101, 4118107, 4118111, 4118125, 4118140, 4118178-4118179, 4118188-4118190, 4118207-4118210, 4118216-4118217, 4118222, 4118225-4118229, 4118238, 4118244-4118293, 4118328, 4118331, 4118340-4118342, 4118357-4118360, 4118366-4118382, 4118767-4118773
1146SLC1A190.99619047619048615754583071-4583076
1147JAK290.997057958223011033995066714, 5077529, 5080286, 5090459-5090465
1148GLDC90.9435194253999317330636610217, 6645311-6645313, 6645331-6645499
1149CDKN2A90.802547770700649347121971155-21971179, 21974693, 21974732-21974791, 21974812-21974818
1150CDKN2A90.7605363984674312552221971155-21971179, 21994167-21994169, 21994201-21994230, 21994236-21994267, 21994284-21994291, 21994355-21994380, 21994406
1151TOPORS90.9754620777565377313832550780-32550827, 32550866-32550889, 32550955-32550959
1152APTX90.99805636540332102932973549-32973550
1153B4GALT190.79197994987469249119733166896-33166969, 33166976-33167056, 33167074-33167167
1154DNAI190.997619047619055210034483474-34483477, 34506702
1155GALT90.992982456140358114034646754-34646761
1156VCP90.9909128459314322242135057373-35057388, 35072345-35072350
1157FANCG90.995184590690219186935079183-35079184, 35079196-35079202
1158TPM290.99181286549708785535689706-35689712
1159NPR290.9602417302799125314435792406-35792411, 35792414-35792424, 35792434-35792438, 35792441, 35792460-35792461, 35792471, 35792555-35792601, 35792639-35792651, 35792655-35792656, 35792659, 35792662-35792667, 35792671-35792679, 35792750-35792756, 35792765-35792777, 35806428
1160GNE90.9885057471264426226236217416-36217439, 36217450-36217451
1161GRHPR90.99493414387031598737422815-37422818, 37422823
1162FXN90.8278041074249610963371650712-71650734, 71650749, 71650752, 71650776, 71650782-71650863, 71668105
1163TMC190.9859833552343432228375315437-75315446, 75369767-75369779, 75450867-75450875
1164VPS13A90.97837270341207206952579820229-79820245, 79820280-79820283, 79820286, 79820984, 79820991, 79841479, 79895075, 79896791, 79896833-79896842, 79897095, 79897098, 79897102, 79897117, 79897155-79897156, 79897159-79897161, 79898502, 79908278-79908310, 79908397, 79910543, 79931208-79931244, 79932535-79932564, 79932598-79932614, 79933169-79933171, 79933177, 79934502, 79938073, 79954818-79954819, 79996892-79996901, 79996914-79996935
1165AUH90.9147058823529487102094123992-94123995, 94123998, 94124038, 94124049, 94124075-94124087, 94124099, 94124106-94124171
1166ROR290.96186440677966108283294486000, 94487004, 94493348, 94495412, 94495527, 94495577, 94495580, 94495582-94495587, 94495591-94495592, 94495608, 94495624, 94495636, 94495694, 94495698, 94712149-94712160, 94712170-94712245
1167FBP190.9862340216322514101797365841-97365854
1168FANCC90.999403697078121167797869452
1169PTCH190.92518416206262325434498209525-98209532, 98209609, 98211423, 98239901, 98239905, 98239909-98239913, 98239922, 98239936, 98240352-98240353, 98268689-98268773, 98268785-98268820, 98268860-98268881, 98270483-98270643
1170XPA90.9610705596107132822100459441-100459445, 100459459, 100459519-100459544
1171FOXE190.123885918003579831122100616197-100616356, 100616377-100616656, 100616667-100617180, 100617199-100617227
1172TGFBR190.93584656084656971512101867488-101867584
1173ALG290.96243005595524471251101980449-101980455, 101983841, 101983917-101983920, 101983924-101983929, 101983931, 101983950-101983955, 101984065-101984075, 101984140-101984144, 101984155-101984160
1174INVS90.99280800500313233198102988460-102988470, 103002448, 103015356-103015363, 103046724, 103046727, 103046754
1175ABCA190.9991158267020366786107558595, 107558603-107558607
1176FKTN90.9942279942279981386108337348, 108370210-108370216
1177IKBKAP90.9997499374843713999111665862
1178MUSK90.9969348659003882610113449424, 113547813-113547814, 113547818, 113547822, 113547949-113547951
1179DFNB3190.880323054331863262724117186748, 117186773-117186797, 117240857-117240858, 117240862-117240866, 117240882, 117266672-117266681, 117266699-117266708, 117266724, 117266727, 117266733, 117266746, 117266768-117266771, 117266775, 117266778-117266786, 117266799, 117266809-117266841, 117266850-117266873, 117266880-117266903, 117266910-117267081
1180CDK5RAP290.99348820837733375682123170733, 123171416-123171432, 123342206-123342216, 123342219-123342226
1181GSN90.95146871008941142349124062146-124062259
1182NR5A190.809523809523812641386127245121, 127245143-127245195, 127253474, 127253482-127253483, 127253491, 127253497, 127255320, 127255322-127255332, 127255335-127255336, 127255398, 127255402-127255407, 127262544, 127262603-127262608, 127262740-127262742, 127262790, 127265358, 127265374-127265400, 127265416, 127265429-127265469, 127265488-127265499, 127265573-127265661, 127265673-127265674
1183LMX1B90.729222520107243031119129376798-129376801, 129376834-129376835, 129376839, 129376842-129376843, 129376846, 129376850-129376861, 129377662-129377848, 129453173, 129455550, 129455572-129455578, 129455587, 129456031-129456035, 129456046-129456089, 129458144, 129458164, 129458167-129458169, 129458177-129458184, 129458187, 129458207, 129458210-129458211, 129458215-129458221, 129458232-129458241, 129458261
1184STXBP190.97902869757174381812130374683-130374719, 130440723
1185ENG90.98684876074861261977130578250, 130587596, 130587599-130587601, 130588018, 130588021-130588022, 130588037, 130616595-130616607, 130616620, 130616627-130616629
1186GLE190.9928469241774152097131267175-131267183, 131285982, 131286003-131286004, 131286010-131286012
1187DOLK90.9882498453927191617131709025-131709035, 131709047, 131709050-131709054, 131709554, 131709557
1188TOR1A90.9569569569569643999132586220, 132586288, 132586291-132586292, 132586298-132586300, 132586317-132586324, 132586330-132586339, 132586342-132586343, 132586349-132586364
1189ASS190.9991928974979811239133327700
1190POMT190.98898071625344242178134379660, 134379663-134379666, 134379669, 134382789-134382793, 134382796, 134385166-134385177
1191SETX90.99626587005228308034135139850-135139855, 135139872-135139876, 135139882-135139887, 135139897, 135139901, 135153601-135153608, 135163976-135163977, 135202829
1192TSC190.99513590844063173495135771934-135771941, 135771990, 135772904-135772910, 135772917
1193CEL90.785997357992074862271135937442-135937455, 135944192-135944198, 135944521-135944527, 135946012-135946018, 135946422, 135946473, 135946487-135946490, 135946533, 135946544, 135946558-135946585, 135946640-135947053, 135947096
1194SURF190.8925802879291397903136223124-136223149, 136223159-136223175, 136223276-136223329
1195ADAMTS1390.939775910364152584284136287593-136287604, 136293754-136293891, 136295060, 136295064-136295065, 136295070-136295079, 136295083-136295093, 136295128, 136295155, 136295159, 136295172-136295177, 136295193, 136298579, 136298588, 136298594-136298599, 136301949-136301951, 136301994-136301995, 136301997, 136302000-136302015, 136302026-136302039, 136302041-136302064, 136308544-136308545, 136321772-136321773, 136321778, 136321789
1196DBH90.97411003236246481854136501566-136501572, 136516768-136516769, 136516823, 136522250-136522287
1197SARDH90.9778745012695612757136535737-136535770, 136555502, 136597705-136597714, 136597720, 136597723, 136599017-136599023, 136599200-136599201, 136599269, 136599272, 136599289-136599291
1198COL5A190.971361247054561585517137534034-137534142, 137622266-137622276, 137642407-137642409, 137655565-137655568, 137686928-137686930, 137701065-137701075, 137705851, 137716509, 137716654, 137726876-137726878, 137726883, 137726914, 137726919-137726920, 137726923, 137726941-137726942, 137726947, 137726981-137726983
1199LHX390.718775847808113401209139089303-139089307, 139089315-139089321, 139089339, 139089356-139089376, 139089462-139089509, 139089558-139089560, 139089564-139089565, 139090502-139090503, 139090513, 139090517-139090520, 139090567-139090568, 139090572, 139090594-139090607, 139090629, 139090649, 139090754-139090905, 139091548-139091550, 139091671, 139094805, 139094816-139094885
1200INPP5E90.752454780361764791935139324249, 139324259, 139326276, 139326281-139326284, 139326301-139326308, 139326311, 139326318, 139326324-139326334, 139326345-139326379, 139326417-139326437, 139327034, 139327718-139327721, 139327724, 139329232-139329235, 139329280-139329283, 139329293, 139333074, 139333077, 139333139, 139333142-139333145, 139333157-139333159, 139333162-139333167, 139333188, 139333300-139333375, 139333390-139333409, 139333455-139333464, 139333471, 139333474-139333483, 139333486, 139333502-139333518, 139333522, 139333531-139333538, 139333621, 139333628-139333638, 139333646, 139333655-139333662, 139333674-139333871
1201NOTCH190.917840375586856307668139390579, 139390833-139390846, 139390900-139390925, 139390949-139390956, 139390961, 139390963-139390974, 139390997, 139391056, 139391059-139391060, 139391284-139391287, 139391290, 139391295-139391300, 139391311-139391332, 139391401-139391406, 139391500, 139391520-139391525, 139391544-139391545, 139391549-139391550, 139391610-139391639, 139391656-139391671, 139391713, 139391723, 139391748-139391789, 139391792-139391810, 139391813-139391817, 139391825-139391829, 139391840-139391845, 139391856, 139391862-139391863, 139391868-139391891, 139391905-139391909, 139391926, 139391939, 139391943, 139391958-139391964, 139391979-139392010, 139395091-139395108, 139395155, 139395298-139395299, 139396279, 139396283, 139396827-139396872, 139396885-139396892, 139396895-139396897, 139396901, 139396904, 139396911, 139396918, 139396921, 139399186-139399234, 139399248, 139399265-139399272, 139399276-139399289, 139399292-139399294, 139399996, 139400001, 139400145-139400146, 139400150-139400169, 139400178, 139400246-139400249, 139400252, 139401075-139401084, 139401219, 139402445, 139402745, 139402747, 139402756-139402764, 139411724-139411731, 139411746-139411772, 139412277-139412280, 139412371, 139417621, 139440178-139440238
1202AGPAT290.75268817204301207837139568309, 139568344-139568346, 139571471-139571477, 139571954-139571973, 139581628-139581634, 139581641-139581809
1203SLC34A390.795555555555563681800140127063, 140127456-140127457, 140127486, 140127661, 140127673-140127679, 140127712-140127747, 140127771-140127808, 140127842-140127856, 140128133-140128136, 140128151-140128174, 140128315-140128393, 140128565-140128572, 140128592-140128601, 140128605-140128622, 140128642-140128646, 140128657-140128664, 140128669-140128672, 140128675-140128676, 140128685, 140128876-140128895, 140128912, 140128941, 140128946-140128950, 140128960, 140129137-140129141, 140129146-140129150, 140130498-140130500, 140130549-140130552, 140130606, 140130679-140130701, 140130706, 140130731-140130732, 140130747-140130748, 140130756-140130778, 140130791, 140130797-140130801, 140130805
1204EHMT190.97870156530665833897140513481-140513501, 140605447, 140605471-140605476, 140638527, 140671284-140671288, 140674117-140674118, 140674147, 140705913-140705915, 140728950-140728976, 140729275, 140729286, 140729290-140729295, 140729309-140729310, 140729332-140729337
1205SHOXX0.74288964732651226879591788-591793, 591802, 591810, 591829-591832, 595480, 595493-595497, 595505-595506, 595515-595544, 595547-595548, 595550, 595553-595559, 605127, 605153, 605162-605167, 605170-605173, 605184-605190, 605225-605371
1206CSF2RAX0.954022988505756013051407723-1407748, 1422181, 1422206-1422238
1207KAL1X0.953010279001479620438699894, 8699905-8699937, 8699943-8699944, 8699950, 8699976, 8699982-8700038, 8700062
1208GPR143X0.948235294117656612759733640-9733699, 9733743-9733746, 9733797, 9733806
1209RS1X0.99555555555556367518660189-18660191
1210RPS6KA3X0.999550157444891222320213240
1211SMSX0.9554950045413349110121958943-21958991
1212ARXX0.68028419182948540168925022938-25022945, 25022981-25022982, 25025302, 25025356-25025358, 25025361-25025368, 25025377, 25025381, 25025392-25025398, 25025423-25025428, 25025438-25025445, 25025468-25025474, 25025477, 25025480, 25025496-25025509, 25025515-25025523, 25031160-25031166, 25031277-25031356, 25031459-25031493, 25031504-25031844
1213NR0B1X0.9858457183297920141330326614, 30326842-30326847, 30326862, 30326889-30326890, 30327181-30327182, 30327195-30327198, 30327293-30327296
1214DMDX0.9998191354675321105831514920-31514921
1215RPGRX0.88204683434519408345938145297-38145325, 38145338-38145590, 38145604-38145609, 38145631-38145667, 38145673-38145755
1216BCORX0.998481397114658526839933569-39933576
1217ATP6AP2X0.998100664767332105340448274-40448275
1218NYXX0.51313969571231704144641332759, 41332769-41333364, 41333396-41333403, 41333425, 41333428-41333440, 41333446-41333452, 41333466-41333475, 41333479, 41333484-41333550
1219SYN1X0.7837582625118458211847433506-47433546, 47433554-47433564, 47433600-47433776, 47433784-47433847, 47433953-47433959, 47434087-47434091, 47434097, 47434101-47434134, 47434139, 47434143, 47478754, 47478781, 47478784-47478788, 47478826-47478855, 47478956, 47478986, 47478990-47478997, 47479008-47479041, 47479085-47479092, 47479101-47479127
1220CFPX0.998581560283692141047488926, 47488929
1221FTSJ1X0.9989898989899199048341124
1222WASX0.9827700463883426150948547208-48547233
1223SYPX0.99044585987261994249056637-49056645
1224FGD1X0.9812889812889854288654521595-54521598, 54521756-54521757, 54521781-54521782, 54521820-54521865
1225ARX0.95222584147666132276366765127-66765128, 66765147-66765229, 66765470-66765472, 66765496, 66765521, 66765604-66765607, 66766323, 66766352, 66766359-66766363, 66766369-66766399
1226EFNB1X0.99711815561963104168060284-68060286
1227EDAX0.9829931972789120117668836195-68836203, 68836227-68836232, 68836241, 68836381-68836384
1228DLG3X0.9894050529747426245469665056-69665057, 69665135-69665140, 69665254-69665262, 69665273-69665277, 69665283, 69665377, 69669639-69669640
1229MED12X0.9865319865319988653470338605-70338672, 70338692-70338696, 70360609-70360621, 70361109-70361110
1230GJB1X0.987089201877931185270444380-70444390
1231TAF1X0.96814501935938181568270586165-70586344, 70617113
1232SLC16A2X0.91748099891422152184273641302-73641306, 73641317-73641368, 73641376, 73641391-73641396, 73641400-73641454, 73641465-73641470, 73641569, 73641573, 73641586-73641588, 73641591, 73641714-73641715, 73641729-73641747
1233ATRXX0.999866292285061747977041476
1234BRWD3X0.9938990571270133540979964932-79964933, 80064940-80064970
1235ZNF711X0.999125109361332228684523300-84523301
1236PCDH19X0.9936479128856621330699663351-99663354, 99663440-99663443, 99663462-99663474
1237COL4A5X0.999802293396615058107807147
1238CUL4BX0.9978118161925662742119694114-119694119
1239HPRT1X0.9589041095890427657133594342-133594368
1240SLC9A6X0.96011396011396842106135067670-135067671, 135067681-135067688, 135067712-135067717, 135067724, 135067757-135067763, 135067772-135067796, 135067885, 135067896-135067917, 135067975-135067986
1241ZIC3X0.924501424501421061404136648886-136648887, 136648893-136648901, 136648988, 136648991-136648994, 136648999-136649008, 136651069-136651072, 136651084-136651143, 136651155-136651161, 136651216-136651224
1242SOX3X0.503355704697996661341139585885-139586078, 139586098-139586118, 139586158-139586513, 139586520-139586527, 139586576, 139586637-139586677, 139586699-139586704, 139586727-139586737, 139586740, 139586743-139586760, 139586867-139586871, 139587053-139587056
1243FAM58AX0.8965986394557876735152864444-152864480, 152864483-152864521
1244SLC6A8X0.837002096436063111908152954030-152954291, 152959799-152959841, 152959882-152959887
1245ABCD1X0.97184986595174632238152990958-152990962, 152991254-152991256, 152991265, 152991279, 152991282-152991283, 152991286-152991291, 152991418-152991419, 153008473-153008486, 153008675-153008678, 153008981-153008987, 153009021-153009034, 153009079-153009082
1246L1CAMX0.9992050874403833774153137620-153137622
1247MECP2X0.95257181028724711497153296207-153296215, 153363061-153363122
1248OPN1LWX0.9926940639269481095153418541, 153420173-153420179
1249OPN1MWX0.96986301369863331095153453459-153453460, 153457286-153457302, 153458999-153459011, 153459080
1250OPN1MWX0.98264840182648191095153490577-153490578, 153494404-153494420
1251FLNAX0.99874118831823107944153580560, 153599241-153599243, 153599326-153599328, 153599368, 153599544-153599545
1252EMDX0.8562091503268110765153607845-153607926, 153608060, 153608068-153608069, 153608115-153608136, 153608144, 153608147-153608148
1253GDI1X0.9955357142857161344153665640-153665645
1254G6PDX0.99267399267399121638153760226-153760231, 153760300, 153775081-153775085
1255IKBKGX0.900273224043721461464153786770-153786802, 153788622-153788646, 153788655-153788693, 153788713-153788744, 153788764, 153792557-153792572
1256IKBKGX0.9672801635991816489153868355-153868370
1257USP9YY0.9984350547730812766814847640-14847645, 14898518-14898523
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5MYL2-A13Thet unknown0.008Dominant
pathogenic
High clinical importance,
uncertain
This rare variant is implicated in causing late-onset familial hypertrophic cardiomyopathy. The variant has been found in five affected Caucasian individuals (in four families), but affected non-carriers and unaffected carriers have also been observed. No statistically significant enrichment of this variant in cases vs. controls has been shown.
2.5SP110-M579Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-M523Thet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-L425Shomozygous0.875Unknown
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.
2.5SP110-G299Rhomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-A206Vhomozygous0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5RPGRIP1L-G1025Shet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5RPGRIP1L-R744Qhomozygous0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5RPGRIP1L-A229Thet unknown0.055Unknown
pathogenic
Low clinical importance,
likely
This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare.
2.5C3-P314Lhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2.5C3-R102Ghet unknown0.053Complex/Other
pathogenic
Moderate clinical importance,
likely
This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.
2CHIT1-A442Ghomozygous0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2CHIT1-G102Shomozygous0.268Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
2AKAP10-I646Vhomozygous0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
2AKAP10-R249Hhomozygous0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2CILP-G1166Shomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2CILP-I395Thomozygous0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
2CHRNA5-D398Nhomozygous0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign)
2APOA5-S19Whet unknown0.039Unknown
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.
2MTRR-I49Mhomozygous0.313Recessive
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.
2MTRR-S202Lhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1.375STXBP2-R190Chet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause familial hemophagocytic lymphohistiocytosis (a severe disorder that manifests in childhood).
1.375STXBP2-I526Vhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-L1285Ihomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NAT2-I114Thomozygous0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MRPL28-H27YhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1ELAC2-S217Lhet unknown0.209Complex/Other
pathogenic
Low clinical importance,
uncertain
Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).
1ANKK1-A239Thet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
1ANKK1-G318Rhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1ANKK1-G442Rhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ANKK1-H490Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1ANKK1-E713Khet unknown0.347Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PTCHD3-*768Qhomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-M521Thomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-D473Ghomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
1PTCHD3-C407Ghomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
1PTCHD3-S309Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HABP2-T50MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CD226-S307Ghomozygous0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1SEBOX-L207Shomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TTN-V33180Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P32685Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G31702Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V30951Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I30146Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I26820Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V25297Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I25199Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S22872Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-Q22389Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S20650Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A20244Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V19783Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T18827Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N16125Dhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R13340Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I9278Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N7559Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S7181Nhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A7111Ehet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E6900Ahet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-D6218Hhet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T811Ihet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADAMTSL3-H146Rhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
1ADAMTSL3-L290Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADAMTSL3-V661Lhomozygous0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ADAMTSL3-T1660Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-H-Q61Rhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-R100Chomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-S182Whomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1EYS-R2326QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-N1902Ihet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L1419Shomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L852Phet unknown0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-E641Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-G631Shet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT83-H493Yhomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT83-I279MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT83-R149Chet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-M463Ihomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K1335KQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-N2792Shomozygous0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1DNAH11-E34Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-Q639Rhomozygous0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-S654Chomozygous0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-T1038Ahomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-N2641Shomozygous0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-V3715Lhomozygous0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-S3765Phomozygous0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CELA1-L210Shifthomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1CELA1-M59Vhomozygous0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
1CELA1-Y5PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CELA1-V3ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EDN1-K198Nhet unknown0.235Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign)
1PSMB5-R24Chomozygous0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
1BANK1-R61Hhet unknown0.221Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1BANK1-A383Thomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
1BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FUT2-W154*homozygous0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1FUT2-G258Shomozygous0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
1MTHFD1-K134Rhomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MTHFD1-R653Qhomozygous0.320Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign)
1NR_027127-W61*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1HTT-Y2309Hhomozygous0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-V2786Ihomozygous0.193Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R3738Hhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FLG-R3530Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-V3179Ghet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-H2507Qhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-L2481Shet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-S2366Thet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-VG2225AVhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-L2224Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-Y2119Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1699Chet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1684Hhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-S1482Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1376Ghet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1360Hhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-A1167Ghet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-E755Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-P478Shet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-G444Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-G332Vhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1H2BFM-Q73*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1HTR2C-C23Shomozygous0.191Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign)
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027052-Q90*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1SEPN1-C108Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEPN1-N467KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SALL4-P740Ahomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARSD-P293Shomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1ARSD-S224Chomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1ARSD-F223Lhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1USP9Y-E65DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-M356IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75MTHFR-A222Vhet unknown0.250Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.75SYNE1-R8735Qhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.75SYNE1-G8323Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.75SYNE1-A8168Shet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75SYNE1-Q6083Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75SYNE1-K4121Rhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75SYNE1-E4060Dhomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.625BRCA2-N372Hhet unknown0.230Recessive
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.
0.625BRCA2-V2466Ahomozygous0.954Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625FANCA-L798Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625FANCA-T266Ahomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhomozygous0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-V3960Ihet unknown0.023Unknown
benign
Low clinical importance,
likely
Probably benign, reported as a nonpathogenic polymorphism found in controls.
0.5PKHD1-I3905Nhet unknown0.030Unknown
benign
Low clinical importance,
likely
Presumed benign, allele frequency contradicts severe pathogenic effect.
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRERF1-D1187Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5TRERF1-P272Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.402 (possibly damaging)
0.5TULP1-K261Nhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NBPF3-M1Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NBPF3-Y114Chomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5NBPF3-D190Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.438 (possibly damaging)
0.5NBPF3-F429Chomozygous0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.426 (possibly damaging)
0.5NBPF3-E430Ghomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NBPF3-D444Ehomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.5NBPF3-L459Vhomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLPS-R55Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FGD2-R306Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5COL9A1-Q621Rhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF207-N573Shomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF207-G603Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign)
0.5ZBTB24-R49Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5RSPH4A-R556Hhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDSS2-R349*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5AIM1-E1196Ahet unknown0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
0.5LCA5-G656Dhomozygous0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GRIK2-Q621Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5PADI4-G55Shet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PADI4-V82Ahet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PADI4-G112Ahet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.077 (benign)
0.5PADI4-D260Nhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5PADI4-R650Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CROCC-Q302Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5CROCC-D463Yhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CROCC-R691Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.873 (probably damaging)
0.5CROCC-R903Shet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HLA-DQB1-Q256Rhet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhomozygous0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M24Ihet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A6Shet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPM2A-I126Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-P1139Rhomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAT2-P4117Lhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Q3953Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FAT2-M3631Ihomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5FAT2-F2428Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Y1181Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-R368Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5GEMIN5-R682Qhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.5GEMIN5-R319Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ADRB2-E27Qhet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SPINK5-D106Nhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-D386Nhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-H1002Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNAPC4-H799Qhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNAPC4-D40Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5FBXL21-N31Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBXL21-V172Delhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBXL21-P208Lhet unknown0.812Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL9A2-V581Ihet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL9A2-Q326Rhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGFR4-P136Lhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGFR4-G388Rhet unknown0.301Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.481 (possibly damaging)
0.5COL5A1-G530Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5TNXB-P2947Thet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G1140Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y48Fhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R64Khet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-QS152HAhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATXN1-P753Shet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATXN1-I730Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GNL2-R455Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PROP1-A142Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5PROP1-A142Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRM6-A807Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5ADAMTS2-P1177Shomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ADAMTS2-R827Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.876 (probably damaging)
0.5FLT4-R1324Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IQCE-R383Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.958 (probably damaging)
0.5SHPRH-S969Chet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5TMEM67-I604Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STK3-S40Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5VPS13B-E2560Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13B-S3117Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13B-R3561Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-E755Ghet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-I307Vhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNA2-T125Ahomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PXDNL-V1327Dhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PXDNL-C1258*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PXDNL-M981Vhet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SDR16C6-T318Phomozygous0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SDR16C6-S221Thomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SDR16C6-L63*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZFHX4-R2853Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5COL14A1-P855Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5COL14A1-V1342Lhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5TG-S734Ahomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R1999Whet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5DOCK8-N1070Dhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.127 (benign), Testable gene in GeneTests
0.5DOCK8-S1077Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTC39B-P560Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TTC39B-I354Vhomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VCP-I27Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPT-H14Nhomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSTA3-R320Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PLEC-Q3586Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-V3162Ihet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-R2969Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-S2791Phomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A641Vhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEKHG5-G866Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PLEKHG5-M496Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.795 (possibly damaging), Testable gene in GeneTests
0.5PLEKHG5-T294Shet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FOXH1-D328Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ZNF189-N585Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5PCM1-N159Shet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCM1-N455Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5PCM1-M597Vhet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PCM1-R1251Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5ARHGEF19-P460Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ARHGEF19-E238Qhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.045 (benign)
0.5ARHGEF19-G163Rhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.186 (benign)
0.5ZNF643-C13Yhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ZNF643-P41Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5ABCB1-S893Ahomozygous0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5POR-A503Vhet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HIP1-T62Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5TRPM6-Q1663Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPATA21-K361KKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPATA21-V255Lhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPATA21-P119Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5URGCP-M779Lhet unknown0.506Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.464 (possibly damaging)
0.5URGCP-R432Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5PRAMEF2-R33Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PRAMEF2-V67Ghet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRAMEF2-T72Rhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MGAM-N858Dhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGAM-P1424Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DFNB31-N796Khet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-V399Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IMPDH1-T257Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUC17-A427Thet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-P1066Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5MUC17-P1225Shet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-S1846Thet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-T2180Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC17-P2221Rhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IFRD1-T127Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5CRB2-T90Nhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CRB2-R1249Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5GRM8-W491Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DMXL1-R203Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5DMXL1-S466Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.127 (benign)
0.5DMXL1-V2067Mhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5DMXL1-T2107Shet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5DMXL1-R2131Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA0467-R834Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5KIAA0467-T1827Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5COL3A1-A698Thet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BMPR2-S775Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SPAG16-D56Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.665 (possibly damaging)
0.5SPAG16-S356Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5SPAG16-Q361Hhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPAG16-K425Thet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PI4KB-F386Shifthet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ITGA6-A380Thomozygous0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGA6-D910Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN9A-N1245Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN9A-W1150Rhomozygous0.896Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-R698Hhet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Rare, classified as nonpathogenic in most reports (although Polyphen 2 predicts damaging effect). Other recessive variants in this gene cause intrahepatic cholestasis in a recessive manner.
0.5ABCB11-V444Ahomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP2-V1948Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5LRP2-G259Rhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC25A12-R473Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NUDT17-C300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NUDT17-C300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AGXT-E371Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.039 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYRIP-K100Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5SLC6A20-T199Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CCR5-S185Shifthet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL6A3-A3012Phomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-P2218Lhet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATG16L1-T300Ahomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-S1400Phomozygous0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhomozygous0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEC22B-D70Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-T81Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R107Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IGSF3-Q1093Rhet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IGSF3-V920Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5IGSF3-R463Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL4A3-G43Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-D644Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5EPHX1-H139Rhet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OBSCN-A908ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-H1158Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5OBSCN-D2106Ehomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-G4039Rhet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5OBSCN-C4450Rhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-R4534Hhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5OBSCN-S4642Chomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-G4666Shet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-D4962Ghomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-L5269Vhet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5OBSCN-Q5891Ehet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5OBSCN-P6272Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.402 (possibly damaging)
0.5PCNXL2-R1050Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FLG2-S2377*het unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5FLG2-S895Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FLG2-S895Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FLG2-R276Qhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLG2-L41Fhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CACNA1S-L1800Shet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknownUnknown
benign
Low clinical importance,
likely
Common polymorphism
0.5CACNA1S-G258Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-A69Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NES-P1275Lhomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NES-R1133Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5NES-P1101Lhomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5QSOX1-H399Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5HMCN1-E722Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.5HMCN1-L1961Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests
0.5HMCN1-I2418Thomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-T2500Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.971 (probably damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5ASPM-L2647Ihet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-E216Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-D919Ghet unknown0.262Complex/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.
0.5APOB-S4338Nhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-R4270Thet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-R3638Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-I2313Vhet unknown0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-Y1422Chomozygous0.994Unknown
benign
Low clinical importance,
uncertain
This position is almost certainly an error in the HG18 reference sequence.
0.5APOB-T98Ihet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH6-V141Mhomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-R664Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH6-G1694Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
0.5DNAH6-Y2119Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5DNAH6-K2859Rhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5MRPS5-R284Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CCDC93-Q415Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5GLI2-A1156Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DYSF-G129Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OTOF-R773Chet unknown0.024Unknown
benign
Low clinical importance,
uncertain
Presumed benign. Seen in 2.4% of randomly chosen chromosomes, contradicting a severe pathogenic hypothesis.
0.5OTOF-D304Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-F303Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCKR-L446Phet unknown0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP1B1-N453Shet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYB561D2-R79Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ATXN7-S920Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-A240Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.605 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RNF175-I322Nhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF175-L307Fhomozygous0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5RNF175-R292Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5RNF175-M159Vhomozygous0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.395 (possibly damaging)
0.5ANXA10-R47Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CPT2-V368Ihomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRP8-R952Qhet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP8-M407Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP8-D46Ehet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR6-S249Phomozygous0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDGFRA-G79Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests
0.5LPHN3-T659Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5UGT2B15-K523ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.500Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SDHA-D38Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP4A22-R126Whet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-C231Rhet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-P385Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CYP4A22-L428Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APC-V1822Dhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAAH-P129Thet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
0.5FCRLB-T32Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FBN2-V965Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-S199Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhomozygous0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L6249Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I4450Vhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhomozygous0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-N549Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GHR-I544Lhomozygous0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5RAD17-L557Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FAM169A-E511Khet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5BDP1-D38Ehomozygous0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-R757Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-V778Mhet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5BDP1-G1180Shet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-F1244Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-I1264Mhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-V1347Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-K1469Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5BDP1-Q1676Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5BDP1-I2013Lhomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EVC-Q74Phet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDCP2-M409Shifthet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5CDCP2-M409Shifthet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5CDCP2-A325Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CDCP2-G244Rhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.239 (possibly damaging)
0.5IQCB1-C434Yhomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PARP15-V42Mhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP15-A45Thet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP15-R463Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PARP15-G628Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMPS-G213Ahet unknown0.170Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GOLGB1-R3077Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5DRD3-G9Shomozygous0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SUCLG2-G198Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL6A6-R323Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5COL6A6-A370Thomozygous0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.86 (probably damaging)
0.5COL6A6-I1137Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5COL6A6-S1708Fhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.5COL6A6-H1799Rhet unknown0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MCF2L2-M1015Thet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.716 (possibly damaging)
0.5MCF2L2-T902Ahomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MCF2L2-R120*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5INADL-E362Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5INADL-I400Vhet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5INADL-I870Mhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INADL-G1178Shet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INADL-R1282Hhet unknown0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5INADL-V1360Lhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPN2-Q509Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPN2-A305Thet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5MUC20-D322Hhet unknown0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC20-T345Shifthet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NOTCH1-P1377Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALG6-Y131Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALG6-S306Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPA1-S158Nhomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5RTP4-D109Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5RTP4-T131Mhet unknown0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RTP4-C169Yhet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RTP4-A204Dhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LPP-R600Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CLDN16-R55Shifthomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5SYDE2-V1157Ihomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-M1142Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SYDE2-V569Ihomozygous0.946Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-S422Lhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.928 (probably damaging)
0.5DPYD-V732Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.905 (probably damaging), Testable gene in GeneTests
0.5DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTC16-R134Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TTC16-E588Ghet unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5ZNF101-H127Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MLH3-P844Lhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF57-S56Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ZNF57-T223Nhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.654 (possibly damaging)
0.5TSHR-P52Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-V721Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.895Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VSX2-D291Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-N3130Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-D3253Hhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhet unknown0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-N3982Hhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-R4041Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-P5531Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.688 (possibly damaging), Testable gene in GeneTests
0.5PAX9-T199TVThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NIN-G1320Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NIN-Q1125Phomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NIN-R470Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SIX6-H141Nhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SPATA7-V74Mhomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE19-P190Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZFYVE19-S376Ahomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SPTBN5-Y2922Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Q2827Rhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Q1777Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SPTBN5-R1525Hhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-C1000Rhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-H398Rhet unknown0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARRDC1-N287Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ARRDC1-G363Chet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.177 (benign)
0.5NM_001080841-R42Chet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-V80Ahet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R85Chet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R102*het unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5INF2-R877Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC88C-L1992Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC88C-G1983Ahet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5CCDC88C-E1334Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ELANE-P257Lhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LOXHD1-R2133Hhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-A2036Vhomozygous0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-E1623Ghet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-C1344Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-V363Ihet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARHGAP5-A1406Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5TEP1-I2486Mhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-K1955Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-K368Rhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-H239Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-T137Mhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HNF1A-I27Lhet unknown0.311Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAPT-P202Lhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAPT-D285Nhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAPT-V289Ahet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-R370Whet unknown0.116Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.5MAPT-S447Phet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KNTC1-K245Nhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.289 (possibly damaging)
0.5KNTC1-V2021Ghet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-H1235Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.047 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-P496Lhet unknown0.023Unknown
benign
Low clinical importance,
uncertain
Presumed benign, seen in two healthy PGP participants.
0.5ACADS-G209Shomozygous0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5IFT81-D134Ghet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SH2B3-W262Rhet unknown0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RASAL1-R321Hhet unknown0.775Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RASAL1-T58Mhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DDX54-R693Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5MAN2B1-R337Qhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihomozygous0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF44-T268Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ZNF44-R82Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.083 (benign)
0.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROZ-R295Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LIG4-T9Ihet unknown0.132Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5FARP1-S487Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATP7B-V1140Ahomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5KLF12-S118Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5DSC3-R27Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-P1208Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHODH-K7Qhomozygous0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.5CYBA-Y72Hhet unknown0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDK10-F135Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HYDIN-E4159Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-A4025Thet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-V3898Mhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T3115Rhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-TEKER2520Delhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-P1491Hhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-V1228Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-G489Dhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5HYDIN-M15Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5CES3-G231Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5AGRP-R82Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5NQO1-R139Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP1-A18Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5ERBB2-I655Vhet unknown0.121Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.18 (benign)
0.5ERBB2-P1170Ahomozygous0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.5ERBB2-A1216Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5PNPO-R116Qhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
0.5JUP-M697Lhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH4-K1911Ehet unknown0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYH4-R1504Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5MYH4-E1209Khet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5MYH4-I1106Mhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYH4-Q329Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CHRNE-V468Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ENO3-N71Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENO3-V85Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIPL1-D90Hhomozygous0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.5PITPNM3-V181Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests
0.5TSEN54-I137Lhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-P483Ahet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CCDC135-D51Nhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging)
0.5CCDC135-N581Khet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5UNC13C-D304Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5UNC13C-G609Shomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13C-S942Lhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TGIF1-P292Lhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5C-R172Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5GATM-Q110Hhomozygous0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEP152-L914Vhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NM_032802-N126Dhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5BBS4-I354Thomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DCXR-A218Thet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCXR-H195Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MVP-R623Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SRCAP-P1535Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARHGAP17-R510Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.973 (probably damaging)
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TELO2-S553Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5TELO2-Q674Rhet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1-D1332Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.463 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ZNF597-L199Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5MGAT5B-V70Ihet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5MGAT5B-Q126Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5HPD-V340Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRTAP10-4-D31Ahet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
0.5KRTAP10-4-*402Chet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5APOBEC3G-N302Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EHF-A96Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5TRIOBP-H1300Rhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5TRIOBP-E1372Dhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5TRIOBP-E2246Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5SLC6A5-G102Shet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RIC3-D351Nhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RIC3-C130Yhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.232 (possibly damaging)
0.5RIC3-P101Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CACNA1I-D262Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SBF2-R1686Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PIWIL3-V418Mhomozygous0.922Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PIWIL3-P375Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.856 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTL5-A280Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5MTL5-C223Rhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5C2CD3-R1219Qhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5C2CD3-P551Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYO7A-A1703Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDC42BPG-A1048Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5SLC19A1-C458Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.958 (probably damaging)
0.5SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5DGKZ-Q21Rhet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DGKZ-G69Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5PTPRJ-P445Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5PTPRJ-E872Dhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0.5SLC43A3-R203Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NAP1L4-S7*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5H19-G355Rhomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-T25Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO3A-R319Hhet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A833Shet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5MYO3A-S956Nhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHAT-L243Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AIFM2-G2Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEBL-SST886RIPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NEBL-D378Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5NEBL-M351Vhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5OPN1LW-L153Mhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTF1A-S263Phomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5CDH23-S494Nhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SBF1-R1053Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5RAB11FIP2-T317Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ADAM8-F657Lhomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM8-M548Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADAM8-R189Whet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM8-W35Rhomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTSD-A58Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL17A1-D1370Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CALHM1-L86Phomozygous1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NDST2-M375Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
0.5ARFGAP3-M431Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARFGAP3-S355Rhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ST13-M297Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5HPS1-V4Ahet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.827 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1C-P817Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.05 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GNB3-G272Shet unknown0.027Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.184 (benign)
0.5TMPRSS3-A90Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5PTPRH-I1076Vhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.5PTPRH-K823Ehomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRH-H348Yhet unknown0.576Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PTPRH-E306Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5VPS16-W728Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DCP1B-N195Dhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging)
0.5NLRP9-A50Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PZP-T1205Phomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PZP-T1003Mhet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PZP-N857Shet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PZP-V813Ahet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PZP-Q598*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PZP-L379Vhet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLK13-H109Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5BEST3-K59Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HAL-P598Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5HAL-V439Ihomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF737-K516Ehet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF737-Y369Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF737-C78Ghet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5KIAA0748-R19Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5PNKP-P20Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.471 (possibly damaging), Testable gene in GeneTests
0.5SLCO1B1-N130Dhomozygous0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B1-P155Thet unknown0.071Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PKP2-R651Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-N551Khet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R1398Hhet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C2CD2-R408Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZC3H12C-D157Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5KCNE1-S38Ghomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5DPAGT1-I393Vhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWA5A-R757Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5LCA5L-S265Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5LCA5L-G17Shet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L878Rhomozygous0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CRLS1-P193Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FUT6-R303Ghet unknown0.107Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.725 (possibly damaging)
0.375FUT6-P124Shet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.614 (possibly damaging)
0.375SRA1-DA174VPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SHANK3-I245Thet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRIP1-S919Phet unknown0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC2-I776Vhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCN4A-N1376Dhet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCN4A-S524Ghet unknown0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E158Khet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25ASMTL-V458Mhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.098 (benign)
0.25ASMTL-V125Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RAD51AP2-R1091Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RAD51AP2-G1037Dhet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.25FRZB-R324Ghet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.25XYLT2-R305Thet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XYLT2-T801Rhet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25ITGB2-I712Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.25CYP2B6-Q172Hhet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign)
0.25CYP2B6-K262Rhet unknown0.298Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL18A1-T379Mhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.25COL6A1-R850Hhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AGL-P1067Shet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25SULT1C4-D5Ehet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DBT-S384Ghet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP4B1-R173Whet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP4B1-D295Shifthet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CYP4B1-M332Ihet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R341Chet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R376Chet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KCNQ2-N780Thet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EDARADD-M9Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-Q620Hhet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25HPS4-H601Yhet unknown0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-E224Ghet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-H199Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGB4-L1779Phet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AGT-M268Thet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NM_031454-M481Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_031454-G611Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DL492456-R148Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-W104*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CFH-H402Yhet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSPG2-S4331Nhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-H3256Yhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-G2572Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-N765Shomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-M638Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TYK2-V362Fhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25MCEE-R104Lhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAP1A-D1245Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.25MAP1A-A1470Thet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25MAP1A-A1752Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MAP1A-A2503Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT4-S579Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT4-Q230Rhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT4-A146Vhomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C7orf69-K32EhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C7orf69-V112Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HYLS1-C31Rhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25ALG9-V289Ihet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25COL1A2-P549Ahet unknown0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALG8-N222Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FBXO24-T574Mhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBXO24-E579Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PON1-Q192Rhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25PON1-L55Mhet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25TXNDC3-R43Khet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-C208Rhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-I493Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25NPSR1-N107Ihet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NPSR1-Q344Rhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC22A16-M409Thet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SLC22A16-V252Ahet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.25SLC22A16-H49Rhet unknown0.333Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KRT6B-I365Vhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CASP10-L522Ihet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B3-S112Ahet unknown0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SDK1-D1016Nhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SDK1-S1223*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SDK1-H1641Rhet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25FAM20C-I320Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM20C-R558Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC22A2-S270Ahet unknown0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25POLA2-G583Rhet unknown0.118Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.024 (benign)
0.25NR_001296-A8Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_001296-G11Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_001296-Q56Khet unknown0.576Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Nonsense mutation
0.25NR_001296-Q56Khet unknown0.576Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Nonsense mutation
0.25NR_001296-I103ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_001296-N182KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BMPR1A-P2Thet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDE6C-S270Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-V819Ihet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TTC18-N944Dhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TTC18-Q144*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DBH-A211Thet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-S2612Ghet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-T1855Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-G1252Rhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-D1192Ehet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-A660Ghet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLCE1-R548Lhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25PLCE1-R1575Phomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25ARMS2-R38*het unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.25ALX4-R35Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25NOS3-D298Ehet unknown0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CLCN1-P727Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ESCO2-A80Vhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD44-R288Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CD44-K417Rhet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD44-I479Thomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NBN-E185Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GGH-A31Thet unknown0.198Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RP1-N985Yhet unknown0.206Unknown
benign
Low clinical importance,
uncertain
Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.
0.25RP1-C2033Yhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25KRT5-D197Ehet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25UGT2B7-Y268Hhet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HGD-Q80Hhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH15-T1125Ahet unknown0.180Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MYH15-R454Qhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25CD19-L174Vhet unknown0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH11-A1241Thet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR1-S602Ihet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TLR1-R80Thet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25SLC5A8-M490Ihet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.25SLC5A8-F428Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC5A8-V193Ihet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.25LITAF-I92Vhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLNB-D1157Nhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25CCDC66-D5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC66-R460Qhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCDC66-E835Vhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.25CCDC66-L836Shet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25KRT14-A94Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-S1634Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALS2-V368Mhet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAI1-G90Ahet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNFRSF13B-P251Lhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MLH1-I219Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25FANCD2-P714Lhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SH3TC2-A468Shet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLN5-K368Rhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SACS-V3369Ahet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ZNF268-M141Lhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF268-T175Mhet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF268-H724Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF268-R860Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25APPL2-A433Vhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25APPL2-R119*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MMAB-M239Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP21A2-R103Khet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.164Complex/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.
0.25XRCC3-T241Mhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.188 (benign)
0.25MFSD8-A423Vhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.177 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NIPBL-N674Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATXN3-V212Mhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-T689Ahet unknown0.016Unknown
benign
Low clinical importance,
uncertain
Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect.
0.25VCAN-K1516Rhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25C5orf42-F2033Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf42-P1794Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf42-T372Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf42-I371Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0MBL2-R52Chet unknown0.035Recessive
pathogenic
Low clinical importance,
likely
This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).
0PEX26-Y109Hhet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause severe disorders involving peroxisome dysfunction (neonatal adrenoleukodystrophy, infantile refsum disease, and Zellweger syndrome).
0RAF1-I32*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0RNASEH2B-I309Shifthet unknown0.023Recessive
pathogenic
High clinical importance,
uncertain
Variants in this protein are implicated in causing Aicardi-Goutieres syndrome in a recessive manner, a rare congenital disease in infants that is usually fatal in the first few years. All families with this gene implicated as causal have disruptive substitutions upstream of this location, so it is unclear whether this downstream frameshift mutation would the same pathogenic effect.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,747,769,875 bases (96.1% of callable positions, 89.2% of total positions)

Coding region coverage: 31,469,988 bases (94.6% of all genes, 95.9% of genes with clinical testing available)

Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY

Gene search

"GENE" or "GENE A123C":

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