GET-Evidence: Single-genome variants needing web review

 
VariantImpactInheritance patternSummaryGenomesAutoscore
GLA C172Ginsufficiently evaluated pathogenicrecessive

This variant was found as part of a compound heterozygote together with D313Y in an individual with Fabry Disease. Yasuda et al. conclude that D313Y is not causal and has little impact on in vitro function, while the protein with this variant alone is dysfunctional. In all three D313Y cases there was a second variant observed so this represents 1/3 of the individuals; the variant was not seen in 500 control chromosomes.

(5 web hits)

5
PALB2 E672Quncertain benign, f=0.024unknown

Probably benign.

(2 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089815
CASP10 V410Iuncertain protective, f=0.047dominant

Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).

(112 web hits)

CGI sample GS00253-DNA_G01_200_375
MLC1 N218Kuncertain benign, f=0.003unknown

Probably benign.

(6 web hits)

CGI sample GS00253-DNA_B02_200_375
RYR1 P1632Sinsufficiently evaluated none, f=0.006unknown

(2 web hits)

var-GS19129-1100-36-ASM5
SERPINA1 E366Kpathogenic, f=0.012recessive

This is also called the “Pi Z” or “Z” allele. When homozygous (acting in a recessive manner) this variant is the major cause of severe alpha-1-antitrypsin deficiency (95% of cases) which often leads to emphysema or chronic obstructive pulmonary disease (COPD) and liver disease in adults and children. Heterozygosity for this variant may also be associated with increased rate of lung or liver problems, especially when combined with another variant with reduced function (compound heterozygous).

(6 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 745213725
TGM1 E520Glikely pathogenic, f=0.006recessive

This variant was found in three individuals with lamellar ichthyosis (two homozygous and one compound het.) in two publications, but insufficient controls makes it difficult to assess significance.

(3 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 694886045
PALB2 E672Quncertain benign, f=0.024unknown

Probably benign.

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 745213725
GJB3 Y177Dinsufficiently evaluated none, f=0.006unknown

(4 web hits)

var-GS19129-1100-36-ASM5
RD3 W6Rinsufficiently evaluated not reviewed, f=0.009unknown

(345 web hits)

var-GS18501-1100-36-ASM5
PALB2 E672Quncertain benign, f=0.024unknown

Probably benign.

(2 web hits)

var-GS21767-1100-36-ASM5
CASP10 V410Iuncertain protective, f=0.047dominant

Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).

(112 web hits)

CGI sample GS01669-DNA_B03 from PGP sample 144272415
CYP27A1 P384Luncertain benign, f=0.018unknown

Probably not pathogenic. Although predicted to be disruptive and treated by some as pathogenic, reports of this variant in cases were all linked with an upstream frameshift variant — this supports the variant as a nonpathogenic ancestral polymorphism.

(2 web hits)

CGI sample GS00253-DNA_A02_200_375
HOXA1 E189Ainsufficiently evaluated none, f=0.002unknown

(1 web hit)

var-GS18517-1100-36-ASM5
GJB2 S139Ninsufficiently evaluated pathogenic, f=0.000recessive

This variant is associated with hearing loss, but the evidence supporting this is weak (possibly due to variant rarity). Other mutations in this gene are associated with hearing loss.

(25 web hits)

var-GS18555-1100-36-ASM5
TGM1 E520Glikely pathogenic, f=0.006recessive

This variant was found in three individuals with lamellar ichthyosis (two homozygous and one compound het.) in two publications, but insufficient controls makes it difficult to assess significance.

(3 web hits)

CGI sample GS00253-DNA_E01_200_375
PCDH15 Q1342Kinsufficiently evaluated pathogenic, f=0.008recessive

This variant was found as a compound heterozygote (together with T1867del) in a Caucasian individual with Usher syndrome type I.

(4 web hits)

var-GS19669-1100-36-ASM5
CFH Q950Hpathogenic, f=0.004dominant

This rare variant was found heterozygously (presumed acting in a dominant manner) in a single sporadic case of atypical hemolytic-uremic syndrome — a potentially lethal medical emergency, usually occurring in childhood. Although predicted to be disruptive, observations of the variant lack statistical significance.

(3 web hits)

CGI sample GS00253-DNA_B01_200_375
TMEM43 Y233Cinsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

var-GS19017-1100-36-ASM5
CASP10 V410Iuncertain protective, f=0.047dominant

Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).

(112 web hits)

CGI sample GS01175-DNA_B04 from PGP sample 885906715
HPS4 H606Yinsufficiently evaluated not reviewedunknown

(3 web hits)

hu728FFF build 36 substitution variants (hom)5
SERPINA1 E366Kpathogenic, f=0.012recessive

This is also called the “Pi Z” or “Z” allele. When homozygous (acting in a recessive manner) this variant is the major cause of severe alpha-1-antitrypsin deficiency (95% of cases) which often leads to emphysema or chronic obstructive pulmonary disease (COPD) and liver disease in adults and children. Heterozygosity for this variant may also be associated with increased rate of lung or liver problems, especially when combined with another variant with reduced function (compound heterozygous).

(6 web hits)

CGI sample GS00253-DNA_A01_200_375
CASP10 V410Iuncertain protective, f=0.047dominant

Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).

(112 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 834943705
PEX26 L153Vinsufficiently evaluated none, f=0.013recessive

This variant was found in cis with R288fs366X in a female with Infantile Refsum Disorder. Functional assays showed this combination to have a mild phenotype.

(1 web hit)

var-GS07357-1100-36-ASM5
CASP10 V410Iuncertain protective, f=0.047dominant

Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).

(112 web hits)

CGI sample GS01669-DNA_B05 from PGP sample 864862615
PALB2 E672Quncertain benign, f=0.024unknown

Probably benign.

(2 web hits)

CGI sample GS01175-DNA_F02 from PGP sample 957881915
GUCY2D P575Linsufficiently evaluated none, f=0.016unknown

(73 web hits)

var-GS18517-1100-36-ASM5
PKD2 S804Npathogenic, f=0.003dominant

Predicted to cause autosomal dominant polycystic kidney disease, but without control allele frequency the report cannot be tested for statistical significance.

(1 web hit)

CGI sample GS00253-DNA_B02_200_375
CASP10 V410Iuncertain protective, f=0.047dominant

Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).

(112 web hits)

CGI sample GS01175-DNA_D05 from PGP sample 12054915
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
PEX26 L153Vinsufficiently evaluated none, f=0.013recessive

This variant was found in cis with R288fs366X in a female with Infantile Refsum Disorder. Functional assays showed this combination to have a mild phenotype.

(1 web hit)

CGI sample GS01175-DNA_F02 from PGP sample 957881915
CASP10 V410Iuncertain protective, f=0.047dominant

Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).

(112 web hits)

CGI sample GS01173-DNA_B07 from PGP sample 614995385
HPS4 V552Minsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)5
CHAT L458Finsufficiently evaluated none, f=0.004unknown

(2 web hits)

5
PKD1 R1351Winsufficiently evaluated benign, f=0.004dominant

The variant was found in 1/82 individuals with polycystic disease, but later reports declare it a benign polymorphism.

(2 web hits)

var-GS19026-1100-36-ASM5
PALB2 E672Quncertain benign, f=0.024unknown

Probably benign.

(2 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 925275865
MSH6 V509Auncertain benign, f=0.001undefined

Despite being predicted to have a damaging effect on a mismatch repair gene, this variant has shown no significant association with cancers (endometrial & colorectal, which are associated with mutations in this gene). It is probably benign; if it has any pathogenic effect it is weak.

(8 web hits)

CGI sample GS00253-DNA_D01_200_375
CASP10 L479Iinsufficiently evaluated noneunknown

(2 web hits)

4
BRCA2 I2944Finsufficiently evaluated none, f=0.015unknown

(18 web hits)

var-GS19129-1100-36-ASM4
NOD2 N289Sinsufficiently evaluated none, f=0.006unknown

(12 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 312862724
ATP7B K670Rinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants4
NPC1 T511Minsufficiently evaluated none, f=0.003unknown

(2 web hits)

var-GS18502-1100-36-ASM4
DTNBP1 H297Yinsufficiently evaluated noneunknown

(1 web hit)

4
MECP2 E397Kinsufficiently evaluated noneunknown

(33 web hits)

4
CCM2 V74Iinsufficiently evaluated noneunknown

(4 web hits)

4
PKP2 D26Nuncertain benign, f=0.005undefined

Probably benign. This variant has been classified as a rare polymorphism, although other variants in this gene have been implicated in causing autosomal dominant arrhythmogenic right ventricular dysplasia (which can cause sudden death at an early age).

(12 web hits)

CGI sample GS00253-DNA_D01_200_374
ATM L546Vinsufficiently evaluated none, f=0.017unknown

(19 web hits)

var-GS18517-1100-36-ASM4
SLC26A2 R492Winsufficiently evaluated pathogenic, f=0.015recessive

This variant was found in “numerous” autosomal recessive diastrophic dysplasia patients, but later evidence point to it likely being a benign polymorphism.

(4 web hits)

var-GS06994-1100-36-ASM4
PANK2 R94Pinsufficiently evaluated none, f=0.016unknown

(2 web hits)

var-GS18555-1100-36-ASM4
MEN1 T541Ainsufficiently evaluated not reviewedunknown

(2 web hits)

hu728FFF build 36 substitution variants (hom)4
PHKB M185Ilikely pathogenic, f=0.011recessive

Reported to cause glycogen storage disease type IX in a recessive manner, but insufficient data is reported to establish significance.

(1 web hit)

CGI sample GS00253-DNA_D01_200_374
DMD R2933Qinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)4
DMD R2929Qinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)4
PKD1 A4058Vinsufficiently evaluated noneunknown

(6 web hits)

4
SLC35C1 F104Linsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS19129-1100-36-ASM4
CDH23 E2044Kinsufficiently evaluated not reviewedunknown

(8 web hits)

hu728FFF build 36 substitution variants4
TCOF1 A41Vinsufficiently evaluated benign, f=0.002dominant

The variant was initially reported causative for Treacher-Collins syndrome, but later research found that it did not segregate with disease.

(8 web hits)

4
EXT2 M42Vinsufficiently evaluated none, f=0.016unknown

(1 web hit)

var-GS19129-1100-36-ASM4
TULP1 E122Dinsufficiently evaluated not reviewed, f=0.001unknown

(3 web hits)

var-GS19704-1100-36-ASM4
DCTN1 R1049Quncertain benign, f=0.001unknown

Although rare and predicted to have a damaging effect, Vilarino-Guell et al. find the variant did not segregate with neurological disease and conclude it is not deleterious.

(1 web hit)

CGI sample GS00253-DNA_C01_200_374
CFTR S1235Rlikely pathogenic, f=0.005recessive

Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants.

(122 web hits)

CGI sample GS01175-DNA_D05 from PGP sample 12054914
SPG11 K1013Epathogenic, f=0.010recessive

One unpublished report links this to causing spastic paraplegia in a recessive manner, but insufficient data exists to evaluate significance. Most mutations in this reported to cause the disease in this gene are more severe null mutations (frameshift or nonsense).

(1 web hit)

CGI sample GS00253-DNA_D01_200_374
CREBBP S1043Linsufficiently evaluated none, f=0.012unknown

(1 web hit)

var-GS18517-1100-36-ASM4
PHKB I374Tinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18555-1100-36-ASM4
ABCG8 R543Spathogenic, f=0.000recessive

This variant is predicted to cause sitosterolemia (inability to break down plant sterols) in a recessive manner, although this finding lacked statistical significance. Sitosterolemia may be underdiagnosed as it has symptoms similar to hypercholesterolemia and hyperlipidemia.

(1 web hit)

CGI sample GS00253-DNA_G01_200_374
OTOF P21Linsufficiently evaluated not reviewedunknown

(25 web hits)

hu728FFF build 36 substitution variants4
UNC13D A59Tuncertain benign, f=0.017unknown

Probably benign. This variant was reported to cause haemophagocytic lymphohistiocytosis in a recessive manner, but its allele frequency is inconsistent with this hypothesis and so we evaluate it as a nonpathogenic polymorphism.

(1 web hit)

CGI sample GS01669-DNA_B05 from PGP sample 864862614
HLA-DQB1 R162Qinsufficiently evaluated none, f=0.048unknown

(1 web hit)

CGI sample GS01175-DNA_D01 from PGP sample 312862724
VWF A2178Sinsufficiently evaluated none, f=0.016unknown

(1 web hit)

var-GS07357-1100-36-ASM4
MYH11 A1234Tinsufficiently evaluated noneunknown

(3 web hits)

4
CDH23 P2380Linsufficiently evaluated not reviewedunknown

(20 web hits)

hu728FFF build 36 substitution variants4
SPG11 K1013Epathogenic, f=0.010recessive

One unpublished report links this to causing spastic paraplegia in a recessive manner, but insufficient data exists to evaluate significance. Most mutations in this reported to cause the disease in this gene are more severe null mutations (frameshift or nonsense).

(1 web hit)

hu34D5B9 exome4
PAX3 T315Kinsufficiently evaluated not reviewed, f=0.027unknown

(8 web hits)

hu3215A7 build 36 substitution variants4
FUT3 Q102Kinsufficiently evaluated none, f=0.002unknown

(7 web hits)

var-GS19129-1100-36-ASM4
GPR56 S286Rinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants4
FANCA P643Rinsufficiently evaluated none, f=0.006unknown

(2 web hits)

var-GS19703-1100-36-ASM4
ANG K84Einsufficiently evaluated not reviewed, f=0.004unknown

(9 web hits)

var-GS19017-1100-36-ASM4
HPS4 Q625Hinsufficiently evaluated not reviewedunknown

(3 web hits)

hu728FFF build 36 substitution variants (hom)4
COL9A2 M182Vinsufficiently evaluated not reviewed, f=0.008unknown

(2 web hits)

var-GS18508-1100-36-ASM4
GJB4 W128Xinsufficiently evaluated not reviewed, f=0.002unknown

(4 web hits)

CGI sample GS00253-DNA_B02_200_374
USH2A I5126Tinsufficiently evaluated not reviewed, f=0.024unknown

(2 web hits)

var-GS21767-1100-36-ASM4
ATM L2332Pinsufficiently evaluated none, f=0.009unknown

(1 web hit)

var-GS18517-1100-36-ASM4
TEP1 G1408Rinsufficiently evaluated none, f=0.015unknown

(1 web hit)

var-GS19129-1100-36-ASM4
CDH23 V1675Iinsufficiently evaluated not reviewedunknown

(5 web hits)

hu728FFF build 36 substitution variants4
KRT5 G138Euncertain pathogenic, f=0.052undefined

This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).

(119 web hits)

CGI sample GS01173-DNA_B07 from PGP sample 614995384
VWF A2178Sinsufficiently evaluated none, f=0.016unknown

(1 web hit)

CGI sample GS01175-DNA_G03 from PGP sample 925275864
TSC1 T899Sinsufficiently evaluated pathogenic, f=0.008dominant

This variant was found in one sporadic case of Tuberous Sclerosis in a Japanese individual. Missense mutations are rarely causative for this disease, however.

(2 web hits)

var-GS18956-1100-36-ASM4
HPS4 E229Ginsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)4
GAMT T209Minsufficiently evaluated noneunknown

(12 web hits)

4
KRT5 G138Euncertain pathogenic, f=0.052undefined

This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).

(119 web hits)

CGI sample GS01669-DNA_B05 from PGP sample 864862614
LPIN2 L504Funcertain benign, f=0.003unknown

Unreported and rare, tentatively evaluated as benign. Other recessive mutations in this gene cause Majeed syndrome (multifocal osteomyelitis, anemia, and dermatosis). Although unstudied, LPIN2 is in a locus associated with psoriasis.

(2 web hits)

CGI sample GS01175-DNA_D05 from PGP sample 12054914
XDH R1296Winsufficiently evaluated not reviewed, f=0.013unknown

(4 web hits)

hu3215A7 build 36 substitution variants4
ACADS W177Rinsufficiently evaluated none, f=0.002unknown

(2 web hits)

var-GS18517-1100-36-ASM4
DMD R1593Qinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)4
ABCA4 V567Minsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18956-1100-36-ASM4
HLA-DQB1 R162Qinsufficiently evaluated none, f=0.048unknown

(1 web hit)

var-GS21767-1100-36-ASM (hom)4
DMD R1596Qinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)4
PCSK9 H553Rinsufficiently evaluated not reviewed, f=0.003unknown

(13 web hits)

var-GS18505-1100-36-ASM4
KCNJ11 R301Linsufficiently evaluated none, f=0.008unknown

(3 web hits)

var-GS19129-1100-36-ASM4
DNAH5 E1756Kuncertain benign, f=0.004unknown

Probably benign.

(2 web hits)

CGI sample GS00253-DNA_A02_200_374
WDR36 H212Puncertain benign, f=0.000unknown

Probably benign.

(17 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089814
SALL1 M98Vinsufficiently evaluated none, f=0.005unknown

(4 web hits)

var-GS19129-1100-36-ASM4
APOC2 K77Qinsufficiently evaluated none, f=0.007unknown

(3 web hits)

var-GS19240-1100-36-ASM4
LPIN2 L504Funcertain benign, f=0.003unknown

Unreported and rare, tentatively evaluated as benign. Other recessive mutations in this gene cause Majeed syndrome (multifocal osteomyelitis, anemia, and dermatosis). Although unstudied, LPIN2 is in a locus associated with psoriasis.

(2 web hits)

CGI sample GS00253-DNA_E01_200_374
TH V81Minsufficiently evaluated not reviewedunknown

(306 web hits)

hu728FFF build 36 substitution variants (hom)4
TP53 P47Sinsufficiently evaluated not reviewed, f=0.005unknown

(22 web hits)

var-GS19129-1100-36-ASM4
SPINK1 R67Hinsufficiently evaluated not reviewed, f=0.012unknown

(4 web hits)

var-GS19238-1100-36-ASM4
PITX2 A181Tinsufficiently evaluated noneunknown

(1 web hit)

4
PITX2 A135Tinsufficiently evaluated noneunknown

(1 web hit)

4
PANK2 R94Pinsufficiently evaluated none, f=0.016unknown

(2 web hits)

CGI sample GS01175-DNA_B04 from PGP sample 885906714
APOE R163Cinsufficiently evaluated none, f=0.005unknown

(2 web hits)

var-GS19129-1100-36-ASM4
CACNA1C P1820Linsufficiently evaluated not reviewedunknown

(5 web hits)

hu728FFF build 36 substitution variants4
PAX3 T315Kinsufficiently evaluated not reviewed, f=0.027unknown

(8 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089814
NOD2 N289Sinsufficiently evaluated none, f=0.006unknown

(12 web hits)

CGI sample GS01175-DNA_B04 from PGP sample 885906714
SPG11 K1013Epathogenic, f=0.010recessive

One unpublished report links this to causing spastic paraplegia in a recessive manner, but insufficient data exists to evaluate significance. Most mutations in this reported to cause the disease in this gene are more severe null mutations (frameshift or nonsense).

(1 web hit)

CGI sample GS01173-DNA_G02 from PGP sample 671805984
PEX6 R343Qinsufficiently evaluated not reviewed, f=0.013unknown

(1 web hit)

var-GS19025-1100-36-ASM (hom)4
ATM V2079Iuncertain benign, f=0.006unknown

Probably benign.

(2 web hits)

CGI sample GS00253-DNA_B01_200_374
CDH23 T1999Sinsufficiently evaluated not reviewedunknown

(11 web hits)

hu728FFF build 36 substitution variants4
IVD A311Vinsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

var-GS19703-1100-36-ASM4
DOK7 S45Lpathogenic, f=0.006recessive

This variant was seen as a compound heterozygote (with either P376PfsX30 or P469H) in two individuals with congenital myasthenic syndromes (out of a screen of 200). Other mutations in this gene are associated with the syndrome, but there are insufficient controls to establish this variant in particular as significant.

(4 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 312862724
SEPN1 N468Kinsufficiently evaluated not reviewedunknown

(5 web hits)

hu728FFF build 36 substitution variants (hom)4
TG V2472Linsufficiently evaluated none, f=0.020unknown

(2 web hits)

var-GS18517-1100-36-ASM4
KCNQ1 P408Ainsufficiently evaluated none, f=0.003unknown

(8 web hits)

var-GS19129-1100-36-ASM4
USH1C E519Dinsufficiently evaluated not reviewedunknown

(10 web hits)

hu728FFF build 36 substitution variants4
PHKB M185Ilikely pathogenic, f=0.011recessive

Reported to cause glycogen storage disease type IX in a recessive manner, but insufficient data is reported to establish significance.

(1 web hit)

CGI sample GS01173-DNA_C02 from PGP sample 103663724
CACNA1C M1869Vinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants4
KRT5 G138Euncertain pathogenic, f=0.052undefined

This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).

(119 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 109715814
CDH23 R2358Qinsufficiently evaluated not reviewedunknown

(8 web hits)

hu728FFF build 36 substitution variants4
CHAT D400Ninsufficiently evaluated not reviewed, f=0.016unknown

(4 web hits)

CGI sample GS01173-DNA_A07 from PGP sample 962400094
BRCA2 V2109Iinsufficiently evaluated none, f=0.008unknown

(8 web hits)

var-GS18956-1100-36-ASM4
CFTR S1235Rlikely pathogenic, f=0.005recessive

Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants.

(122 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 834943704
CDH1 L630Vinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18956-1100-36-ASM4
ITGB4 L1709Pinsufficiently evaluated not reviewedunknown

(16 web hits)

hu728FFF build 36 substitution variants (hom)4
ATM S707Puncertain benign, f=0.008unknown

Probably not pathogenic, several papers conclude it is not associated with breast cancer.

(54 web hits)

CGI sample GS00253-DNA_G01_200_374
KRT5 G138Euncertain pathogenic, f=0.052undefined

This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).

(119 web hits)

CGI sample GS00253-DNA_E01_200_374
UNC13D A59Tuncertain benign, f=0.017unknown

Probably benign. This variant was reported to cause haemophagocytic lymphohistiocytosis in a recessive manner, but its allele frequency is inconsistent with this hypothesis and so we evaluate it as a nonpathogenic polymorphism.

(1 web hit)

CGI sample GS00253-DNA_H01_200_37 (hom)4
CFTR S1235Rlikely pathogenic, f=0.005recessive

Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants.

(122 web hits)

CGI sample GS00253-DNA_H01_200_374
PRKRA P127Linsufficiently evaluated none, f=0.008unknown

(2 web hits)

4
XDH R1296Winsufficiently evaluated not reviewed, f=0.013unknown

(4 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 273169834
SLC26A2 R492Winsufficiently evaluated pathogenic, f=0.015recessive

This variant was found in “numerous” autosomal recessive diastrophic dysplasia patients, but later evidence point to it likely being a benign polymorphism.

(4 web hits)

hu34D5B9 exome4
MTRR S175Linsufficiently evaluated not reviewedunknown

(46 web hits)

hu728FFF build 36 substitution variants4
PKP2 S140Funcertain pathogenic, f=0.002dominant

Implicated as causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in a dominant manner. However, it fails to segregate with disease in studied families and has also been seen in controls. It is unclear whether there is any significant enrichment for this variant in patients — even if so, we estimate the increased risk of ARVD for a carrier of this variant to be quite low (less than .1%).

(14 web hits)

CGI sample GS00253-DNA_G01_200_374
SEPN1 N502Kinsufficiently evaluated not reviewedunknown

(5 web hits)

hu728FFF build 36 substitution variants (hom)4
COL4A5 G953Vinsufficiently evaluated pathogenic, f=0.000recessive

This X-linked variant was seen in a one patient (out of 131 screened) with Alport Syndrome, where it was seen on the same allele as an additional nonsynonymous variant in the same gene. Other variants in this gene are known to cause this disease.

(11 web hits)

var-GS18555-1100-36-ASM4
SP110 T367Minsufficiently evaluated none, f=0.019unknown

(3 web hits)

hu3215A7 build 36 substitution variants4
PMM2 N216Sinsufficiently evaluated pathogenic, f=0.008recessive

(3 web hits)

var-GS19129-1100-36-ASM4
ITGB4 L1762Pinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)4
CHAT D400Ninsufficiently evaluated not reviewed, f=0.016unknown

(4 web hits)

hu3215A7 build 36 substitution variants4
HFE C194Yinsufficiently evaluated noneunknown

(2 web hits)

4
WDR36 H212Puncertain benign, f=0.000unknown

Probably benign.

(17 web hits)

CGI sample GS00253-DNA_E01_200_374
KCNQ1 T473Minsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants4
CACNA1C P1868Linsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants4
HGF E299Kinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants4
WDR36 H212Puncertain benign, f=0.000unknown

Probably benign.

(17 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 694886044
BRCA1 S509Ginsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants4
MOGS D133Ninsufficiently evaluated not reviewedunknown

(6 web hits)

hu728FFF build 36 substitution variants (hom)4
POMT1 Q251Xinsufficiently evaluated noneunknown

(1 web hit)

4
CAPN3 A149Tinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)4
NSD1 R604Linsufficiently evaluated not reviewed, f=0.005unknown

(8 web hits)

hu3215A7 build 36 substitution variants4
CUL7 R401Qinsufficiently evaluated none, f=0.015unknown

(3 web hits)

var-GS19020-1100-36-ASM4
ATM P872Sinsufficiently evaluated none, f=0.016unknown

(2 web hits)

var-GS18517-1100-36-ASM4
BHMT2 T218Minsufficiently evaluated not reviewed, f=0.004unknown

(2 web hits)

var-GS19700-1100-36-ASM3
SSFA2 P836Linsufficiently evaluated none, f=0.039unknown

(6 web hits)

CGI sample GS00253-DNA_A01_200_373
LYZ T88Ninsufficiently evaluated none, f=0.051unknown

(7 web hits)

CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)3
TAS2R5 P113Linsufficiently evaluated not reviewed, f=0.011unknown

(6 web hits)

hu3215A7 build 36 substitution variants3
TEKT4 N409Kinsufficiently evaluated not reviewed, f=0.026unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_373
AKAP6 E892Kinsufficiently evaluated not reviewed, f=0.009unknown

(3 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 641915653
EXO1 R93Ginsufficiently evaluated none, f=0.011unknown

(3 web hits)

var-GS18508-1100-36-ASM3
GCDH Q417Rinsufficiently evaluated noneunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)3
DNMBP M831Tinsufficiently evaluated unknown, f=0.023unknown

(1 web hit)

CGI sample GS01175-DNA_B05 from PGP sample 834943703
CHGB R232Qinsufficiently evaluated not reviewed, f=0.008unknown

(16 web hits)

var-GS18940-1100-36-ASM3
LAMA4 R154Winsufficiently evaluated not reviewed, f=0.047unknown

(4 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089813
GPATCH2 M474Vinsufficiently evaluated not reviewed, f=0.028unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 745213723
MUS81 R350Winsufficiently evaluated none, f=0.023unknown

(3 web hits)

var-GS06985-1100-36-ASM3
ARR3 S299Cinsufficiently evaluated none, f=0.010unknown

(1 web hit)

var-GS19648-1100-36-ASM3
GPX5 L85Pinsufficiently evaluated none, f=0.017unknown

(4 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089813
FECH R96Qinsufficiently evaluated noneunknown

(4 web hits)

3
APOH C325Ginsufficiently evaluated not reviewed, f=0.029unknown

(15 web hits)

CGI sample GS00253-DNA_H01_200_373
FARP2 R17Hinsufficiently evaluated not reviewed, f=0.019unknown

(1 web hit)

CGI sample GS01669-DNA_C05 from PGP sample 424080463
KAZALD1 G236Dinsufficiently evaluated none, f=0.031unknown

(11 web hits)

CGI sample GS00253-DNA_A01_200_373
FANCA A181Vinsufficiently evaluated not reviewed, f=0.061unknown

(3 web hits)

var-GS19026-1100-36-ASM3
USP20 V444Iinsufficiently evaluated not reviewed, f=0.018unknown

(5 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 109715813
CMYA5 K2383Einsufficiently evaluated none, f=0.012unknown

(1 web hit)

var-GS19700-1100-36-ASM3
DLL3 L142Qinsufficiently evaluated none, f=0.054unknown

(3 web hits)

CGI sample GS00253-DNA_G01_200_373
HIGD1B D87Ninsufficiently evaluated none, f=0.016unknown

(1 web hit)

CGI sample GS01173-DNA_F02 from PGP sample 700089813
MUS81 R350Winsufficiently evaluated none, f=0.023unknown

(3 web hits)

CGI sample GS01669-DNA_B03 from PGP sample 144272413
LCAT S232Tinsufficiently evaluated none, f=0.023unknown

(4 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 273169833
JTB I83Sinsufficiently evaluated not reviewed, f=0.001unknown

(5 web hits)

CGI sample GS00253-DNA_B02_200_373
GLB1 S502Ginsufficiently evaluated noneunknown

(5 web hits)

3
LYZ T88Ninsufficiently evaluated none, f=0.051unknown

(7 web hits)

CGI sample GS0000055323
VPS13A K2672Ninsufficiently evaluated none, f=0.001unknown

(1 web hit)

var-GS19129-1100-36-ASM3
CFHR2 E199Xinsufficiently evaluated none, f=0.006unknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_373
CST1 S22Rinsufficiently evaluated none, f=0.000unknown

(1 web hit)

var-GS19129-1100-36-ASM3
STK31 R385Cinsufficiently evaluated not reviewed, f=0.005unknown

(3 web hits)

CGI sample GS00253-DNA_H01_200_373
AMN M55Iinsufficiently evaluated none, f=0.004unknown

(17 web hits)

var-GS19129-1100-36-ASM3
SLC10A2 F296Linsufficiently evaluated not reviewed, f=0.005unknown

(3 web hits)

CGI sample GS00253-DNA_D01_200_373
MAGEB2 C41Yinsufficiently evaluated none, f=0.000unknown

(1 web hit)

var-GS18555-1100-36-ASM3
TLR10 L167Pinsufficiently evaluated not reviewed, f=0.001unknown

(5 web hits)

CGI sample GS00253-DNA_D01_200_373
SERPINB2 G374Ainsufficiently evaluated not reviewed, f=0.015unknown

(3 web hits)

var-GS18508-1100-36-ASM3
HGSNAT A615Tinsufficiently evaluated none, f=0.004unknown

(1 web hit)

CGI sample GS01173-DNA_F06 from PGP sample 641915653
UGT8 P226Linsufficiently evaluated none, f=0.025unknown

(8 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 109715813
GALC A21Pinsufficiently evaluated not reviewed, f=0.086unknown

(3 web hits)

CGI sample GS01175-DNA_F02 from PGP sample 957881913
TSPAN17 I140Tinsufficiently evaluated not reviewed, f=0.013unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_373
TDRKH G257Ainsufficiently evaluated not reviewed, f=0.028unknown

(2 web hits)

CGI sample GS00253-DNA_B01_200_373
RAD51C T287Ainsufficiently evaluated none, f=0.008unknown

(11 web hits)

var-GS20502-1100-36-ASM3
ZNF202 K259Einsufficiently evaluated not reviewed, f=0.005unknown

(12 web hits)

CGI sample GS01175-DNA_D05 from PGP sample 12054913
OAS3 R844Xinsufficiently evaluated none, f=0.013unknown

(4 web hits)

var-GS19834-1100-36-ASM3
SALL4 G117Rinsufficiently evaluated none, f=0.001unknown

(15 web hits)

var-GS18956-1100-36-ASM3
CHM L80Finsufficiently evaluated none, f=0.011unknown

(3 web hits)

var-GS19703-1100-36-ASM (hom)3
PPEF2 T168Iinsufficiently evaluated not reviewed, f=0.011unknown

(3 web hits)

CGI sample GS00253-DNA_H01_200_373
CLPS R109Cinsufficiently evaluated none, f=0.007unknown

(11 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 424080463
KAZALD1 G236Dinsufficiently evaluated none, f=0.031unknown

(11 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 103663723
NAV1 D487Ninsufficiently evaluated not reviewed, f=0.002unknown

(3 web hits)

CGI sample GS00253-DNA_B01_200_373
HIGD1B D87Ninsufficiently evaluated none, f=0.016unknown

(1 web hit)

var-GS19701-1100-36-ASM3
LAMA2 A2587Vinsufficiently evaluated noneunknown

(1 web hit)

3
ALOX12B P127Suncertain benign, f=0.017other

This variant was found heterozygously in autosomal recessive congenital ichthyosis in two Turkish siblings, although the second mutation was not found. Later, Lesueur et al. observe that this variant has a 4% frequency in their North African controls and is likely just a rare SNP.

(1 web hit)

hu232307 build 36 substitution variants3
LBP D283Ginsufficiently evaluated none, f=0.012unknown

(9 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 424080463
DLL3 L142Qinsufficiently evaluated none, f=0.054unknown

(3 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)3
ASMT N17Kinsufficiently evaluated none, f=0.001unknown

(7 web hits)

var-GS18555-1100-36-ASM3
LCAT S232Tinsufficiently evaluated none, f=0.023unknown

(4 web hits)

var-GS10851-1100-36-ASM (hom)3
CLCN2 E718Dinsufficiently evaluated none, f=0.016unknown

(5 web hits)

hu232307 build 36 substitution variants3
POMT1 Q251Rinsufficiently evaluated noneunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)3
NMS M1Tinsufficiently evaluated none, f=0.004unknown

(788 web hits)

var-GS19129-1100-36-ASM3
APOH C325Ginsufficiently evaluated not reviewed, f=0.029unknown

(15 web hits)

CGI sample GS01669-DNA_B05 from PGP sample 864862613
TTF2 K1134Rinsufficiently evaluated none, f=0.022unknown

(3 web hits)

var-GS07357-1100-36-ASM3
CRB1 R769Hinsufficiently evaluated none, f=0.000unknown

(2 web hits)

var-GS18558-1100-36-ASM3
AKAP6 E892Kinsufficiently evaluated not reviewed, f=0.009unknown

(3 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 834943703
EPHB4 D576Einsufficiently evaluated none, f=0.008unknown

(5 web hits)

var-GS18526-1100-36-ASM3
TJP1 R1083Cinsufficiently evaluated not reviewed, f=0.002unknown

(1 web hit)

CGI sample GS00253-DNA_G01_200_373
TEKT4 N409Kinsufficiently evaluated not reviewed, f=0.026unknown

(2 web hits)

var-GS06985-1100-36-ASM3
BTBD16 Q472Rinsufficiently evaluated none, f=0.023unknown

(4 web hits)

var-GS19735-1100-36-ASM3
LAMA4 R154Winsufficiently evaluated not reviewed, f=0.047unknown

(4 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 424080463
PTPRH G270Einsufficiently evaluated none, f=0.002unknown

(1 web hit)

var-GS18517-1100-36-ASM3
DLL3 L142Qinsufficiently evaluated none, f=0.054unknown

(3 web hits)

CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)3
DAGLA G735Vinsufficiently evaluated none, f=0.023unknown

(4 web hits)

var-GS18517-1100-36-ASM3
OSMR P936Sinsufficiently evaluated none, f=0.016unknown

(10 web hits)

var-GS19700-1100-36-ASM3
LAMC1 D532Einsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18940-1100-36-ASM3
ADAMTS13 S903Linsufficiently evaluated none, f=0.000unknown

(38 web hits)

var-GS18555-1100-36-ASM3
ZSCAN4 E387Kinsufficiently evaluated not reviewed, f=0.023unknown

(4 web hits)

CGI sample GS01175-DNA_D03 from PGP sample 274861993
DNMT3L R271Qinsufficiently evaluated none, f=0.003unknown

(13 web hits)

CGI sample GS00253-DNA_A01_200_373
AKAP11 H1070Rinsufficiently evaluated not reviewed, f=0.005unknown

(9 web hits)

CGI sample GS00253-DNA_H01_200_373
CUBN E304Kinsufficiently evaluated none, f=0.000unknown

(2 web hits)

var-GS18956-1100-36-ASM3
CDON E242Kinsufficiently evaluated not reviewed, f=0.008unknown

(2 web hits)

CGI sample GS00253-DNA_C01_200_373
TTBK1 P649Rinsufficiently evaluated not reviewed, f=0.018unknown

(4 web hits)

CGI sample GS00253-DNA_H01_200_373
GLB1 S401Ginsufficiently evaluated noneunknown

(2 web hits)

3
FOXO3 R99Winsufficiently evaluated none, f=0.024unknown

(10 web hits)

3
CYP2A6 G5Rinsufficiently evaluated none, f=0.008unknown

(15 web hits)

var-GS18956-1100-36-ASM3
SYCP2 T751Iinsufficiently evaluated not reviewed, f=0.022unknown

(2 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 925275863
EYS P94Qinsufficiently evaluated not reviewed, f=0.004unknown

(3 web hits)

var-GS19834-1100-36-ASM3
SIGLEC12 T160Iinsufficiently evaluated noneunknown

(3 web hits)

3
GPATCH2 M474Vinsufficiently evaluated not reviewed, f=0.028unknown

(1 web hit)

CGI sample GS00253-DNA_B01_200_373
ESR2 R221Ginsufficiently evaluated not reviewed, f=0.003unknown

(2 web hits)

CGI sample GS00253-DNA_G01_200_373
RAD54L R534Cinsufficiently evaluated none, f=0.003unknown

(3 web hits)

var-GS18517-1100-36-ASM3
MFN2 P456Linsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS18956-1100-36-ASM3
TTBK1 P649Rinsufficiently evaluated not reviewed, f=0.018unknown

(4 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 641915653
ASS1 R108Linsufficiently evaluated not reviewed, f=0.007unknown

(2 web hits)

var-GS19020-1100-36-ASM3
ZSCAN4 E387Kinsufficiently evaluated not reviewed, f=0.023unknown

(4 web hits)

CGI sample GS00253-DNA_B01_200_373
PMS2 T511Ainsufficiently evaluated none, f=0.021unknown

(2 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 424080463
ACOXL R163Winsufficiently evaluated none, f=0.002unknown

(3 web hits)

var-GS18517-1100-36-ASM3
NEBL Q187Hinsufficiently evaluated none, f=0.008unknown

(4 web hits)

var-GS18956-1100-36-ASM3
DNASE1 Y117Sinsufficiently evaluated not reviewed, f=0.007unknown

(1 web hit)

CGI sample GS00253-DNA_H01_200_373
WNT9B R94Qinsufficiently evaluated none, f=0.005unknown

(1 web hit)

var-GS18517-1100-36-ASM3
CEACAM5 A46Tinsufficiently evaluated not reviewed, f=0.023unknown

(2 web hits)

CGI sample GS00253-DNA_C01_200_373
LIFR I110Vinsufficiently evaluated none, f=0.000unknown

(1 web hit)

3
SSFA2 P836Linsufficiently evaluated none, f=0.039unknown

(6 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 943785233
LIPE R611Cinsufficiently evaluated none, f=0.001unknown

(1 web hit)

var-GS18555-1100-36-ASM3
TSPAN17 I140Tinsufficiently evaluated not reviewed, f=0.013unknown

(2 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 694886043
SOS1 N1011Sinsufficiently evaluated not reviewed, f=0.002unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_373
ANXA3 P251Linsufficiently evaluated not reviewed, f=0.002unknown

(15 web hits)

CGI sample GS00253-DNA_B02_200_373
COX15 F374Linsufficiently evaluated noneunknown

(3 web hits)

hu728FFF build 36 substitution variants3
PPEF2 T168Iinsufficiently evaluated not reviewed, f=0.011unknown

(3 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 947974693
CDC37 G360Einsufficiently evaluated none, f=0.023unknown

(5 web hits)

var-GS19129-1100-36-ASM3
PARP12 A620Vinsufficiently evaluated not reviewed, f=0.009unknown

(3 web hits)

CGI sample GS00253-DNA_B02_200_373
WRN K32Rinsufficiently evaluated not reviewed, f=0.003unknown

(42900 web hits)

CGI sample GS01173-DNA_B07 from PGP sample 614995383
MYH13 G701Rinsufficiently evaluated not reviewed, f=0.012unknown

(6 web hits)

CGI sample GS00253-DNA_D01_200_373
RHBDF1 R265Winsufficiently evaluated none, f=0.000unknown

(3 web hits)

var-GS18555-1100-36-ASM3
CYP21A2 S269Tinsufficiently evaluated none, f=0.153unknown

(1 web hit)

3
LCAT S232Tinsufficiently evaluated none, f=0.023unknown

(4 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 745213723
CABYR T74Minsufficiently evaluated none, f=0.002unknown

(3 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 671805983
DUOX2 P982Ainsufficiently evaluated none, f=0.034unknown

(1 web hit)

CGI sample GS01173-DNA_B02 from PGP sample 943785233
KPRP P532Tinsufficiently evaluated none, f=0.006unknown

(1 web hit)

var-GS18517-1100-36-ASM3
ROS1 S653Finsufficiently evaluated not reviewed, f=0.005unknown

(3 web hits)

CGI sample GS00253-DNA_B01_200_373
GGCX R268Qinsufficiently evaluated noneunknown

(7 web hits)

hu728FFF build 36 substitution variants3
CLCN2 E718Dinsufficiently evaluated none, f=0.016unknown

(5 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 745213723
ANK2 S3300Rinsufficiently evaluated not reviewed, f=0.022unknown

(3 web hits)

CGI sample GS00253-DNA_A02_200_373
VWF S761Ninsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS19129-1100-36-ASM3
PDGFRA R340Qinsufficiently evaluated none, f=0.017unknown

(6 web hits)

var-GS18517-1100-36-ASM3
TTBK1 P649Rinsufficiently evaluated not reviewed, f=0.018unknown

(4 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 109715813
WRN L628Vinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18555-1100-36-ASM3
RNF207 R539Cinsufficiently evaluated none, f=0.015unknown

(1 web hit)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)3
GSDMC P23Sinsufficiently evaluated none, f=0.034unknown

(3 web hits)

CGI sample GS0000069093
ZNF202 K259Einsufficiently evaluated not reviewed, f=0.005unknown

(12 web hits)

CGI sample GS00253-DNA_G01_200_373
ETV4 P433Linsufficiently evaluated none, f=0.000unknown

(1 web hit)

var-GS18555-1100-36-ASM3
WFS1 D866Ninsufficiently evaluated none, f=0.001unknown

(4 web hits)

var-GS18942-1100-36-ASM3
STK31 K1009Tinsufficiently evaluated not reviewed, f=0.016unknown

(4 web hits)

var-GS19700-1100-36-ASM3
ZSCAN4 E387Kinsufficiently evaluated not reviewed, f=0.023unknown

(4 web hits)

hu34D5B9 exome3
GALC A21Pinsufficiently evaluated not reviewed, f=0.086unknown

(3 web hits)

CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)3
APPL1 D334Einsufficiently evaluated not reviewed, f=0.012unknown

(1 web hit)

var-GS19834-1100-36-ASM3
DOK7 A302Pinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18517-1100-36-ASM3
OR5P3 P58Ainsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18517-1100-36-ASM3
CRB1 R769Hinsufficiently evaluated none, f=0.000unknown

(2 web hits)

CGI sample GS01173-DNA_H06 from PGP sample 917084243
OR6C75 A235Dinsufficiently evaluated not reviewed, f=0.016unknown

(1 web hit)

var-GS19834-1100-36-ASM3
DUOX2 P982Ainsufficiently evaluated none, f=0.034unknown

(1 web hit)

hu34D5B9 exome3
GPATCH2 M474Vinsufficiently evaluated not reviewed, f=0.028unknown

(1 web hit)

hu34D5B9 exome3
MR1 R31Hinsufficiently evaluated not reviewed, f=0.009unknown

(2 web hits)

CGI sample GS00253-DNA_A02_200_373
BCHE G418Vpharmacogenetic, f=0.004recessive

This is the “flu-2” variant of BCHE and can cause prolonged post-succinylcholine apnea (an adverse side-effect of prolonged response to anesthesia) when homozygous or compound heterozygous with other deleterious BCHE variants.

(21 web hits)

CGI sample GS00253-DNA_A02_200_373
MLC1 N344Sinsufficiently evaluated none, f=0.103unknown

(2 web hits)

CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)3
GALC A21Pinsufficiently evaluated not reviewed, f=0.086unknown

(3 web hits)

var-GS07357-1100-36-ASM3
PRR3 R87Winsufficiently evaluated none, f=0.005unknown

(3 web hits)

var-GS18555-1100-36-ASM3
BCHE G418Vpharmacogenetic, f=0.004recessive

This is the “flu-2” variant of BCHE and can cause prolonged post-succinylcholine apnea (an adverse side-effect of prolonged response to anesthesia) when homozygous or compound heterozygous with other deleterious BCHE variants.

(21 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089813
CYP11B1 T248Iinsufficiently evaluated none, f=0.000unknown

(4 web hits)

var-GS19704-1100-36-ASM3
HPS4 L443Vinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants3
GGN Q647Xinsufficiently evaluated none, f=0.009unknown

(1 web hit)

var-GS10851-1100-36-ASM3
G0S2 I8Ninsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS19129-1100-36-ASM3
FSHR A245Tinsufficiently evaluated noneunknown

(1 web hit)

3
GCAT R387Winsufficiently evaluated unknown, f=0.008unknown

(2 web hits)

CGI sample GS01175-DNA_B04 from PGP sample 885906713
CHRNA10 P47Linsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18956-1100-36-ASM3
SLC6A2 I549Tinsufficiently evaluated none, f=0.000unknown

(10 web hits)

var-GS18555-1100-36-ASM3
FBXO40 R78Hinsufficiently evaluated none, f=0.000unknown

(1 web hit)

var-GS18555-1100-36-ASM3
GPX5 L85Pinsufficiently evaluated none, f=0.017unknown

(4 web hits)

CGI sample GS00253-DNA_C01_200_373
LAMA4 R154Winsufficiently evaluated not reviewed, f=0.047unknown

(4 web hits)

var-GS06994-1100-36-ASM3
CABYR T74Minsufficiently evaluated none, f=0.002unknown

(3 web hits)

var-GS18956-1100-36-ASM (hom)3
GPR64 N771Sinsufficiently evaluated none, f=0.000unknown

(5 web hits)

var-GS18956-1100-36-ASM3
NNT W43Cinsufficiently evaluated not reviewed, f=0.000unknown

(4 web hits)

CGI sample GS00253-DNA_H01_200_373
DOK2 F202Linsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18555-1100-36-ASM3
UROD Q9Hinsufficiently evaluated not reviewed, f=0.000unknown

(4 web hits)

CGI sample GS00253-DNA_A02_200_373
IGSF10 R2476Winsufficiently evaluated none, f=0.008unknown

(9 web hits)

var-GS20509-1100-36-ASM3
KRTAP10-1 C9Rinsufficiently evaluated none, f=0.006unknown

(1 web hit)

var-GS19700-1100-36-ASM3
USP20 V444Iinsufficiently evaluated not reviewed, f=0.018unknown

(5 web hits)

CGI sample GS00253-DNA_B02_200_373
TEKT4 N409Kinsufficiently evaluated not reviewed, f=0.026unknown

(2 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 834943703
PRTN3 R249Hinsufficiently evaluated not reviewed, f=0.007unknown

(1 web hit)

CGI sample GS00253-DNA_G01_200_373
OR2Y1 R128Cinsufficiently evaluated none, f=0.015unknown

(5 web hits)

CGI sample GS0000069093
OR51A7 V196Ainsufficiently evaluated none, f=0.008unknown

(3 web hits)

var-GS19703-1100-36-ASM3
AKAP6 E892Kinsufficiently evaluated not reviewed, f=0.009unknown

(3 web hits)

CGI sample GS00253-DNA_C01_200_373
UNC5CL P499Rinsufficiently evaluated none, f=0.008unknown

(1 web hit)

CGI sample GS0000069093
DLL3 L142Qinsufficiently evaluated none, f=0.054unknown

(3 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 925275863
GPATCH2 M474Vinsufficiently evaluated not reviewed, f=0.028unknown

(1 web hit)

CGI sample GS01173-DNA_A07 from PGP sample 962400093
CER1 V179Linsufficiently evaluated not reviewed, f=0.008unknown

(6 web hits)

CGI sample GS00253-DNA_B01_200_373
SSFA2 P836Linsufficiently evaluated none, f=0.039unknown

(6 web hits)

hu34D5B9 exome3
DCLK3 E633Dinsufficiently evaluated none, f=0.008unknown

(2 web hits)

CGI sample GS00253-DNA_A01_200_373
PCM1 A176Dinsufficiently evaluated none, f=0.008unknown

(3 web hits)

var-GS18537-1100-36-ASM3
FARP2 R17Hinsufficiently evaluated not reviewed, f=0.019unknown

(1 web hit)

CGI sample GS01669-DNA_H05 from PGP sample 109715813
FCRL4 P12Sinsufficiently evaluated not reviewed, f=0.012unknown

(3 web hits)

CGI sample GS00253-DNA_A02_200_373
CABYR T74Minsufficiently evaluated none, f=0.002unknown

(3 web hits)

CGI sample GS01173-DNA_H06 from PGP sample 917084243
NR2E3 R366Cinsufficiently evaluated unknownunknown

(3 web hits)

hu728FFF build 36 substitution variants3
IQGAP1 M1231Iinsufficiently evaluated not reviewed, f=0.002unknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_373
ERBB3 R1127Hinsufficiently evaluated none, f=0.008unknown

(17 web hits)

var-GS18956-1100-36-ASM3
RUFY1 H298Qinsufficiently evaluated none, f=0.007unknown

(2 web hits)

var-GS19834-1100-36-ASM3
CCRL2 Y4Cinsufficiently evaluated unknown, f=0.015unknown

(7 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 694886043
UGT8 P226Linsufficiently evaluated none, f=0.025unknown

(8 web hits)

var-GS18940-1100-36-ASM (hom)3
PARVB P52Rinsufficiently evaluated none, f=0.020unknown

(8 web hits)

var-GS19129-1100-36-ASM3
A4GNT R266Xinsufficiently evaluated none, f=0.002unknown

(2 web hits)

CGI sample GS00253-DNA_A01_200_373
KIF20A P839Linsufficiently evaluated not reviewed, f=0.011unknown

(2 web hits)

CGI sample GS00253-DNA_D01_200_373
NELL1 F211Vinsufficiently evaluated not reviewed, f=0.021unknown

(6 web hits)

CGI sample GS00253-DNA_B02_200_373
LAMA4 R154Winsufficiently evaluated not reviewed, f=0.047unknown

(4 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 273169833
CLPS R109Cinsufficiently evaluated none, f=0.007unknown

(11 web hits)

CGI sample GS00253-DNA_A01_200_373
ALOX15 Y139Cinsufficiently evaluated none, f=0.002unknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_373
SERPINF2 P451Sinsufficiently evaluated none, f=0.000unknown

(2 web hits)

var-GS19239-1100-36-ASM3
GPATCH2 M474Vinsufficiently evaluated not reviewed, f=0.028unknown

(1 web hit)

CGI sample GS01669-DNA_B05 from PGP sample 864862613
ATG16L2 R220Winsufficiently evaluated none, f=0.008unknown

(3 web hits)

var-GS18942-1100-36-ASM3
DUOX2 P982Ainsufficiently evaluated none, f=0.034unknown

(1 web hit)

var-GS19669-1100-36-ASM3
CHST8 R77Wuncertain benign, f=0.005recessive

Hypothesized by Cabral et al 2012 (PMID: 22289416) to cause peeling skin syndrome, in a recessive manner. The authors report not seeing this variant in 200 Pakistani controls, but ExAC data finds it carried by 1 in 85 with south asian ancestry. This relatively high allele frequency contradicts the variant having the hypothesized high penetrance effect.

(4 web hits)

CGI sample GS00253-DNA_A02_200_373
CLU E14Xinsufficiently evaluated not reviewed, f=0.006unknown

(19 web hits)

var-GS19703-1100-36-ASM3
RIOK2 R155Hinsufficiently evaluated none, f=0.008unknown

(3 web hits)

var-GS18942-1100-36-ASM3
NOXA1 L99Rinsufficiently evaluated not reviewed, f=0.013unknown

(1 web hit)

var-GS19025-1100-36-ASM3
TMEM143 Y234Xinsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS18537-1100-36-ASM3
PMS2 T511Ainsufficiently evaluated none, f=0.021unknown

(2 web hits)

hu34D5B9 exome3
SULT1C3 E203Kinsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

var-GS21767-1100-36-ASM3
SERPINB2 G374Ainsufficiently evaluated not reviewed, f=0.015unknown

(3 web hits)

CGI sample GS00253-DNA_B02_200_373
NUDT13 R243Cinsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

CGI sample GS00253-DNA_D01_200_373
DNAH9 W4462Rinsufficiently evaluated not reviewed, f=0.015unknown

(4 web hits)

var-GS18508-1100-36-ASM3
ACTL7A P387Linsufficiently evaluated none, f=0.001unknown

(2 web hits)

var-GS18517-1100-36-ASM3
KIF24 R51Cinsufficiently evaluated not reviewed, f=0.007unknown

(1 web hit)

var-GS18502-1100-36-ASM3
SGSM3 W20Rinsufficiently evaluated not reviewed, f=0.008unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_373
ODC1 G268Rinsufficiently evaluated not reviewed, f=0.005unknown

(1 web hit)

var-GS19701-1100-36-ASM3
LRTM2 D161Ninsufficiently evaluated none, f=0.029unknown

(1 web hit)

CGI sample GS01175-DNA_A04 from PGP sample 132722283
KRT26 S37Xinsufficiently evaluated none, f=0.004unknown

(1 web hit)

var-GS19129-1100-36-ASM3
CNTF H182Rinsufficiently evaluated none, f=0.008unknown

(9 web hits)

var-GS18940-1100-36-ASM3
HSPA1L A8Pinsufficiently evaluated not reviewed, f=0.009unknown

(2 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 947974693
LAMA4 R154Winsufficiently evaluated not reviewed, f=0.047unknown

(4 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 943785233
HSPA1L A8Pinsufficiently evaluated not reviewed, f=0.009unknown

(2 web hits)

var-GS21767-1100-36-ASM3
ETFB T154Minsufficiently evaluated noneunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)3
ABL2 K930Rinsufficiently evaluated unknownunknown

(9 web hits)

hu728FFF build 36 substitution variants3
LRTM2 D161Ninsufficiently evaluated none, f=0.029unknown

(1 web hit)

CGI sample GS01175-DNA_D05 from PGP sample 12054913
TCEAL1 R5Cinsufficiently evaluated not reviewed, f=0.006unknown

(3 web hits)

hu3215A7 build 36 substitution variants (hom)3
HGSNAT A615Tinsufficiently evaluated none, f=0.004unknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_373
FARP2 R17Hinsufficiently evaluated not reviewed, f=0.019unknown

(1 web hit)

hu3215A7 build 36 substitution variants3
NHEJ1 Q256Linsufficiently evaluated none, f=0.012unknown

(2 web hits)

var-GS19129-1100-36-ASM3
GPX5 L85Vinsufficiently evaluated none, f=0.007unknown

(6 web hits)

var-GS18517-1100-36-ASM3
TCFL5 E380Dinsufficiently evaluated none, f=0.011unknown

(3 web hits)

var-GS19129-1100-36-ASM3
DFFA L255Finsufficiently evaluated not reviewed, f=0.013unknown

(1 web hit)

var-GS19238-1100-36-ASM3
EMR2 S665Finsufficiently evaluated none, f=0.008unknown

(12 web hits)

var-GS18947-1100-36-ASM3
OAS3 R844Xinsufficiently evaluated none, f=0.013unknown

(4 web hits)

CGI sample GS01175-DNA_B04 from PGP sample 885906713
CPNE1 G225Sinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18555-1100-36-ASM3
FCRL4 P12Sinsufficiently evaluated not reviewed, f=0.012unknown

(3 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 312862723
KCNQ1 V207Minsufficiently evaluated none, f=0.001unknown

(37 web hits)

var-GS18517-1100-36-ASM3
FARP2 R17Hinsufficiently evaluated not reviewed, f=0.019unknown

(1 web hit)

hu34D5B9 exome3
NPS R86Ginsufficiently evaluated not reviewed, f=0.007unknown

(6 web hits)

var-GS18505-1100-36-ASM3
TYRP1 R505Cinsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS18555-1100-36-ASM3
RIPPLY1 N121Sinsufficiently evaluated not reviewed, f=0.001unknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_373
OCIAD2 R44Qinsufficiently evaluated none, f=0.003unknown

(3 web hits)

var-GS21767-1100-36-ASM3
LCAT S232Tinsufficiently evaluated none, f=0.023unknown

(4 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 424080463
APRT V126Minsufficiently evaluated noneunknown

(1 web hit)

3
DNMT3L R271Qinsufficiently evaluated none, f=0.003unknown

(13 web hits)

CGI sample GS00253-DNA_H01_200_373
ABCC2 L849Rinsufficiently evaluated none, f=0.012unknown

(1 web hit)

CGI sample GS00253-DNA_B01_200_373
CASP8 D285Hinsufficiently evaluated noneunknown

(2 web hits)

3
ZNF202 K259Einsufficiently evaluated not reviewed, f=0.005unknown

(12 web hits)

CGI sample GS01175-DNA_F02 from PGP sample 957881913
GPATCH2 M474Vinsufficiently evaluated not reviewed, f=0.028unknown

(1 web hit)

CGI sample GS01175-DNA_F02 from PGP sample 957881913
GALC A21Pinsufficiently evaluated not reviewed, f=0.086unknown

(3 web hits)

CGI sample GS01175-DNA_D05 from PGP sample 12054913
DNMBP M831Tinsufficiently evaluated unknown, f=0.023unknown

(1 web hit)

hu728FFF build 36 substitution variants3
CCDC130 S22Cinsufficiently evaluated none, f=0.019unknown

(3 web hits)

CGI sample GS0000069093
CCRL2 Y4Cinsufficiently evaluated unknown, f=0.015unknown

(7 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 273169833
ZNF225 G368Rinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18956-1100-36-ASM3
WISP3 Q56Hinsufficiently evaluated noneunknown

(1 web hit)

hu728FFF build 36 substitution variants3
TLR10 L696Finsufficiently evaluated not reviewed, f=0.002unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_373
SSFA2 P836Linsufficiently evaluated none, f=0.039unknown

(6 web hits)

CGI sample GS01175-DNA_B04 from PGP sample 885906713
GBP3 Q454Xinsufficiently evaluated none, f=0.006unknown

(2 web hits)

var-GS19129-1100-36-ASM3
PTPRC E1191Ainsufficiently evaluated not reviewed, f=0.001unknown

(1 web hit)

var-GS19701-1100-36-ASM3
DLL3 L142Qinsufficiently evaluated none, f=0.054unknown

(3 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089813
QRFPR H149Qinsufficiently evaluated none, f=0.021unknown

(5 web hits)

var-GS19701-1100-36-ASM3
DUOX2 P982Ainsufficiently evaluated none, f=0.034unknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_373
GCAT R387Winsufficiently evaluated unknown, f=0.008unknown

(2 web hits)

hu728FFF build 36 substitution variants3
IDUA R488Qinsufficiently evaluated noneunknown

(2 web hits)

3
TFB2M H264Yinsufficiently evaluated none, f=0.000unknown

(4 web hits)

var-GS18947-1100-36-ASM3
HIGD1B D87Ninsufficiently evaluated none, f=0.016unknown

(1 web hit)

CGI sample GS01669-DNA_C05 from PGP sample 424080463
SNX7 F186Linsufficiently evaluated none, f=0.016unknown

(3 web hits)

var-GS07357-1100-36-ASM3
CEP68 L397Pinsufficiently evaluated none, f=0.015unknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_373
UPK1A R90Qinsufficiently evaluated noneunknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_373
TNN T94Minsufficiently evaluated none, f=0.009unknown

(8 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 641915653
LRTM2 D161Ninsufficiently evaluated none, f=0.029unknown

(1 web hit)

var-GS12004-1100-36-ASM3
NCAN D704Einsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18555-1100-36-ASM3
SYCP2 T751Iinsufficiently evaluated not reviewed, f=0.022unknown

(2 web hits)

CGI sample GS00253-DNA_C01_200_373
RSC1A1 M1Tinsufficiently evaluated none, f=0.008unknown

(4 web hits)

var-GS18508-1100-36-ASM3
IFNW1 R95Sinsufficiently evaluated none, f=0.001unknown

(4 web hits)

var-GS18558-1100-36-ASM3
BCAM S275Finsufficiently evaluated not reviewed, f=0.002unknown

(5 web hits)

CGI sample GS00253-DNA_D01_200_373
POLG R42Qinsufficiently evaluated noneunknown

(6 web hits)

3
APOB T4484Minsufficiently evaluated none, f=0.039unknown

(1 web hit)

var-GS19701-1100-36-ASM (hom)3
ARL6IP1 R125Cinsufficiently evaluated none, f=0.001unknown

(1 web hit)

3
DLL3 L142Qinsufficiently evaluated none, f=0.054unknown

(3 web hits)

var-GS18502-1100-36-ASM3
NLRX1 R125Linsufficiently evaluated not reviewed, f=0.000unknown

(2 web hits)

var-GS18942-1100-36-ASM3
OR5A2 F103Linsufficiently evaluated none, f=0.016unknown

(5 web hits)

var-GS18555-1100-36-ASM3
KRT24 G250Dinsufficiently evaluated not reviewed, f=0.008unknown

(2 web hits)

CGI sample GS00253-DNA_B02_200_373
TSR1 K209Ninsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

CGI sample GS00253-DNA_B01_200_373
GPATCH2 M474Vinsufficiently evaluated not reviewed, f=0.028unknown

(1 web hit)

CGI sample GS01173-DNA_G02 from PGP sample 671805983
HIST1H1A T99Iinsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS19129-1100-36-ASM3
GPATCH2 M474Vinsufficiently evaluated not reviewed, f=0.028unknown

(1 web hit)

CGI sample GS01669-DNA_C05 from PGP sample 424080463
FAM60A R117Hinsufficiently evaluated none, f=0.001unknown

(3 web hits)

var-GS18956-1100-36-ASM3
LYZ T88Ninsufficiently evaluated none, f=0.051unknown

(7 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 407671073
ADAMTS15 G235Sinsufficiently evaluated not reviewed, f=0.009unknown

(1 web hit)

var-GS18502-1100-36-ASM3
GGN Q647Xinsufficiently evaluated none, f=0.009unknown

(1 web hit)

CGI sample GS01175-DNA_D01 from PGP sample 312862723
ANO7 V435Einsufficiently evaluated none, f=0.003unknown

(2 web hits)

var-GS18942-1100-36-ASM3
MLH3 D1073Ninsufficiently evaluated none, f=0.005unknown

(4 web hits)

var-GS18504-1100-36-ASM3
GPR179 C1381Rinsufficiently evaluated none, f=0.005unknown

(6 web hits)

var-GS19129-1100-36-ASM3
HIF3A R548Winsufficiently evaluated none, f=0.001unknown

(1 web hit)

var-GS18555-1100-36-ASM3
ALOX12B P127Suncertain benign, f=0.017other

This variant was found heterozygously in autosomal recessive congenital ichthyosis in two Turkish siblings, although the second mutation was not found. Later, Lesueur et al. observe that this variant has a 4% frequency in their North African controls and is likely just a rare SNP.

(1 web hit)

CGI sample GS01173-DNA_F06 from PGP sample 641915653
FTHL17 R77Hinsufficiently evaluated not reviewed, f=0.011unknown

(1 web hit)

var-GS21767-1100-36-ASM3
CCRL2 Y4Cinsufficiently evaluated unknown, f=0.015unknown

(7 web hits)

hu728FFF build 36 substitution variants3
SLC27A6 A109Tinsufficiently evaluated none, f=0.007unknown

(1 web hit)

var-GS18517-1100-36-ASM3
TPSG1 S202Ninsufficiently evaluated not reviewed, f=0.007unknown

(4 web hits)

CGI sample GS00253-DNA_B02_200_373
TDRKH G257Ainsufficiently evaluated not reviewed, f=0.028unknown

(2 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 694886043
RD3 E23Dinsufficiently evaluated not reviewed, f=0.009unknown

(18 web hits)

var-GS18501-1100-36-ASM3
KIAA0020 T414Sinsufficiently evaluated none, f=0.001unknown

(3 web hits)

var-GS18956-1100-36-ASM3
FASTKD5 I288Tinsufficiently evaluated none, f=0.002unknown

(3 web hits)

CGI sample GS00253-DNA_A01_200_373
AMT E211Kinsufficiently evaluated not reviewed, f=0.007unknown

(6 web hits)

CGI sample GS00253-DNA_D01_200_373
TNN T94Minsufficiently evaluated none, f=0.009unknown

(8 web hits)

var-GS19670-1100-36-ASM3
TP53BP1 V1026Ainsufficiently evaluated none, f=0.008unknown

(4 web hits)

3
CLCN2 E718Dinsufficiently evaluated none, f=0.016unknown

(5 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 834943703
SMCR7L R169Winsufficiently evaluated none, f=0.007unknown

(2 web hits)

hu232307 build 36 substitution variants3
SGSM3 W20Rinsufficiently evaluated not reviewed, f=0.008unknown

(2 web hits)

CGI sample GS01175-DNA_B04 from PGP sample 885906713
GALC A21Pinsufficiently evaluated not reviewed, f=0.086unknown

(3 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 834943703
KIRREL2 V353Minsufficiently evaluated not reviewed, f=0.030unknown

(3 web hits)

var-GS19834-1100-36-ASM3
MBL2 M1Tinsufficiently evaluated not reviewed, f=0.000unknown

(26 web hits)

CGI sample GS00253-DNA_B02_200_373
KRT6B S143Ninsufficiently evaluated none, f=0.199unknown

(2 web hits)

hu34D5B9 exome3
TSHR R248Sinsufficiently evaluated noneunknown

(5 web hits)

hu728FFF build 36 substitution variants3
ACSM2B E339Xinsufficiently evaluated none, f=0.002unknown

(1 web hit)

var-GS18517-1100-36-ASM3
MVK V80Iinsufficiently evaluated none, f=0.003unknown

(13 web hits)

var-GS19129-1100-36-ASM3
PMS2 T511Ainsufficiently evaluated none, f=0.021unknown

(2 web hits)

var-GS06994-1100-36-ASM3
ZNF862 I178Tinsufficiently evaluated none, f=0.000unknown

(2 web hits)

CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)3
ARFGAP2 R406Winsufficiently evaluated not reviewed, f=0.007unknown

(4 web hits)

var-GS18501-1100-36-ASM3
CYP2A13 R381Winsufficiently evaluated not reviewed, f=0.001unknown

(2 web hits)

CGI sample GS00253-DNA_A02_200_373
RNF207 R539Cinsufficiently evaluated none, f=0.015unknown

(1 web hit)

CGI sample GS01173-DNA_B02 from PGP sample 943785233
SGSM3 W20Rinsufficiently evaluated not reviewed, f=0.008unknown

(2 web hits)

CGI sample GS01175-DNA_D05 from PGP sample 12054913
RPE65 A434Vinsufficiently evaluated none, f=0.025unknown

(11 web hits)

var-GS19129-1100-36-ASM3
MLC1 N344Sinsufficiently evaluated none, f=0.103unknown

(2 web hits)

hu3215A7 build 36 substitution variants3
TYK2 A928Vuncertain benign, f=0.006unknown

Probably benign.

(8 web hits)

CGI sample GS00253-DNA_B02_200_373
USP20 V444Iinsufficiently evaluated not reviewed, f=0.018unknown

(5 web hits)

CGI sample GS01175-DNA_F02 from PGP sample 957881913
SLC47A1 L125Finsufficiently evaluated none, f=0.001unknown

(11 web hits)

var-GS18555-1100-36-ASM3
EFS P67Sinsufficiently evaluated none, f=0.006unknown

(12 web hits)

var-GS18517-1100-36-ASM3
UBAP2 S568Linsufficiently evaluated not reviewed, f=0.000unknown

(2 web hits)

CGI sample GS00253-DNA_B02_200_373
PARK2 M192Linsufficiently evaluated not reviewed, f=0.020unknown

(5 web hits)

var-GS18501-1100-36-ASM3
WRN K32Rinsufficiently evaluated not reviewed, f=0.003unknown

(42900 web hits)

CGI sample GS00253-DNA_A02_200_373
BTBD16 Q472Rinsufficiently evaluated none, f=0.023unknown

(4 web hits)

hu34D5B9 exome3
GCAT R387Winsufficiently evaluated unknown, f=0.008unknown

(2 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 943785233
GSDMC P23Sinsufficiently evaluated none, f=0.034unknown

(3 web hits)

CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)3
MAST2 R1246Linsufficiently evaluated none, f=0.000unknown

(3 web hits)

var-GS18940-1100-36-ASM3
LYZ T88Ninsufficiently evaluated none, f=0.051unknown

(7 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 745213723
CYP11B2 I248Tinsufficiently evaluated not reviewed, f=0.008unknown

(4 web hits)

var-GS18505-1100-36-ASM3
GALC A21Pinsufficiently evaluated not reviewed, f=0.086unknown

(3 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 925275863
CGI sample GS01173-DNA_C02 from PGP sample 10366372
ARHGAP22 R186Cinsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_373
LBP D283Ginsufficiently evaluated none, f=0.012unknown

(9 web hits)

CGI sample GS00253-DNA_A02_200_373
ZNF862 I178Tinsufficiently evaluated none, f=0.000unknown

(2 web hits)

var-GS19648-1100-36-ASM3
PHKA2 T158Ainsufficiently evaluated not reviewed, f=0.003unknown

(2 web hits)

CGI sample GS00253-DNA_B02_200_37 (hom)3
HR P69Sinsufficiently evaluated none, f=0.003unknown

(75 web hits)

3
OSMR P936Sinsufficiently evaluated none, f=0.016unknown

(10 web hits)

CGI sample GS01669-DNA_A04 from PGP sample 081884263
PCCA W559Linsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18526-1100-36-ASM3
PIR R97Winsufficiently evaluated not reviewed, f=0.000unknown

(3 web hits)

CGI sample GS00253-DNA_A02_200_373
GGN Q647Xinsufficiently evaluated none, f=0.009unknown

(1 web hit)

CGI sample GS01669-DNA_D02 from PGP sample 273169833
RBL2 R116Ginsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

CGI sample GS00253-DNA_G01_200_373
LRTM2 D161Ninsufficiently evaluated none, f=0.029unknown

(1 web hit)

CGI sample GS01669-DNA_F02 from PGP sample 407671073
TSHR R269Sinsufficiently evaluated noneunknown

(5 web hits)

hu728FFF build 36 substitution variants3
ZNF574 R332Qinsufficiently evaluated none, f=0.000unknown

(3 web hits)

CGI sample GS01173-DNA_H06 from PGP sample 917084242
IGSF10 A16Vinsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

2
C1ORF14 V491Minsufficiently evaluated not reviewed, f=0.019unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_372
TPR T1707Ainsufficiently evaluated not reviewed, f=0.007unknown

(4 web hits)

CGI sample GS00253-DNA_E01_200_372
ZNF717 P813Sinsufficiently evaluated not reviewed, f=0.022unknown

(1 web hit)

var-GS18505-1100-36-ASM2
STC1 V34Minsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18517-1100-36-ASM2
SDCBP T263Ainsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS18956-1100-36-ASM2
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)2
C1ORF135 K82Tinsufficiently evaluated none, f=0.044unknown

(2 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 103663722
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)2
IWS1 V425Iinsufficiently evaluated not reviewed, f=0.024unknown

(2 web hits)

var-GS19704-1100-36-ASM2
OSGIN2 C363Sinsufficiently evaluated not reviewed, f=0.014unknown

(2 web hits)

var-GS19025-1100-36-ASM2
SLC26A9 V744Minsufficiently evaluated none, f=0.001unknown

(1 web hit)

CGI sample GS01173-DNA_C02 from PGP sample 103663722
FBN3 M371Iinsufficiently evaluated none, f=0.019unknown

(3 web hits)

var-GS19129-1100-36-ASM2
ARHGEF10 T919Pinsufficiently evaluated none, f=0.011unknown

(3 web hits)

var-GS19020-1100-36-ASM2
LARS2 H324Qinsufficiently evaluated none, f=0.026unknown

(76 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 943785232
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 694886042
APOBEC3B S109Ainsufficiently evaluated not reviewed, f=0.002unknown

(3 web hits)

CGI sample GS00253-DNA_B02_200_372
LRDD S161Finsufficiently evaluated not reviewed, f=0.027unknown

(1 web hit)

var-GS19703-1100-36-ASM2
PAK4 R135Qinsufficiently evaluated not reviewed, f=0.014unknown

(4 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
SH2D3A R157Qinsufficiently evaluated none, f=0.028unknown

(1 web hit)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)2
IL6R R232Hinsufficiently evaluated none, f=0.008unknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_372
SEC23B V426Iinsufficiently evaluated not reviewed, f=0.043unknown

(3 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)2
DKKL1 R240Qinsufficiently evaluated not reviewed, f=0.005unknown

(4 web hits)

var-GS21767-1100-36-ASM2
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)2
CGI sample GS01669-DNA_B05 from PGP sample 86486261
C14ORF145 R16Qinsufficiently evaluated none, f=0.016unknown

(7 web hits)

var-GS18508-1100-36-ASM2
CNTN5 R53Xinsufficiently evaluated not reviewed, f=0.232unknown

(2 web hits)

var-GS19704-1100-36-ASM2
REXO4 A4Vinsufficiently evaluated not reviewed, f=0.001unknown

(1 web hit)

var-GS19238-1100-36-ASM (hom)2
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01175-DNA_D03 from PGP sample 274861992
EXPH5 I1735Finsufficiently evaluated none, f=0.006unknown

(2 web hits)

var-GS18517-1100-36-ASM2
ARHGEF3 A124Vinsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

CGI sample GS00253-DNA_C01_200_372
GPR35 A25Tinsufficiently evaluated not reviewed, f=0.009unknown

(5 web hits)

CGI sample GS00253-DNA_A02_200_372
HLA-DRA V16Linsufficiently evaluated none, f=0.023unknown

(6 web hits)

var-GS18508-1100-36-ASM2
AHSG V142Linsufficiently evaluated none, f=0.005unknown

(8 web hits)

var-GS19129-1100-36-ASM2
GALNT5 P77Linsufficiently evaluated none, f=0.000unknown

(9 web hits)

CGI sample GS01173-DNA_H06 from PGP sample 917084242
BSDC1 I251Vinsufficiently evaluated not reviewed, f=0.016unknown

(1 web hit)

2
ABL2 K915Rinsufficiently evaluated unknown, f=0.011unknown

(9 web hits)

hu728FFF build 36 substitution variants2
WDR62 G1375Sinsufficiently evaluated none, f=0.032unknown

(4 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
CTNNA3 S160Tinsufficiently evaluated not reviewed, f=0.018unknown

(1 web hit)

CGI sample GS00253-DNA_B01_200_372
PLEKHN1 R391Hinsufficiently evaluated none, f=0.000unknown

(3 web hits)

var-GS18555-1100-36-ASM2
MS4A13 G3Dinsufficiently evaluated none, f=0.017unknown

(2 web hits)

var-GS21767-1100-36-ASM2
SLCO6A1 A27Vinsufficiently evaluated none, f=0.028unknown

(4 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 424080462
TMEM199 V158Iinsufficiently evaluated none, f=0.027unknown

(2 web hits)

var-GS19129-1100-36-ASM2
TPD52 D52Yinsufficiently evaluated none, f=0.018unknown

(1 web hit)

CGI sample GS01173-DNA_D06 from PGP sample 694886042
CYP11B2 V386Ainsufficiently evaluated not reviewed, f=0.063unknown

(146 web hits)

CGI sample GS01669-DNA_B05 from PGP sample 864862612
ULK1 P478Linsufficiently evaluated none, f=0.006unknown

(5 web hits)

CGI sample GS00253-DNA_F01_200_372
CYP11B2 V386Ainsufficiently evaluated not reviewed, f=0.063unknown

(146 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 745213722
CNTN5 R53Xinsufficiently evaluated not reviewed, f=0.232unknown

(2 web hits)

CGI sample GS01175-DNA_F02 from PGP sample 957881912
SPATA16 M526Tinsufficiently evaluated not reviewed, f=0.017unknown

(3 web hits)

CGI sample GS01175-DNA_A04 from PGP sample 132722282
FRY T24Pinsufficiently evaluated not reviewed, f=0.001unknown

(7 web hits)

CGI sample GS00253-DNA_C01_200_372
POLR1A I815Vinsufficiently evaluated none, f=0.013unknown

(3 web hits)

var-GS18517-1100-36-ASM2
NUPL1 S166Pinsufficiently evaluated none, f=0.032unknown

(4 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 407671072
TNS1 I311Minsufficiently evaluated not reviewed, f=0.015unknown

(3 web hits)

CGI sample GS00253-DNA_C01_200_372
MS4A14 I56Sinsufficiently evaluated not reviewedunknown

(2 web hits)

hu3215A7 build 36 substitution variants (hom)2
PEMT V11Ainsufficiently evaluated not reviewed, f=0.017unknown

(10 web hits)

var-GS18505-1100-36-ASM2
MASP2 R439Hinsufficiently evaluated none, f=0.033unknown

(11 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 694886042
PUS3 R53Hinsufficiently evaluated not reviewed, f=0.004unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_372
SLC6A5 A89Einsufficiently evaluated benign, f=0.024dominant

Reported causative for hyperekplexia in 2006, but later reports find an allelic frequency of 0.02 in controls and in vitro expression indistinguishable from wildtype.

(1 web hit)

CGI sample GS01669-DNA_B05 from PGP sample 864862612
PDK2 G319Rinsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_372
KIF23 N98Sinsufficiently evaluated none, f=0.004unknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_372
SELPLG P236Sinsufficiently evaluated none, f=0.007unknown

(5 web hits)

var-GS18517-1100-36-ASM2
DLX4 N44Sinsufficiently evaluated none, f=0.050unknown

(1 web hit)

CGI sample GS01175-DNA_D01 from PGP sample 312862722
ARAP1 V1408Minsufficiently evaluated none, f=0.001unknown

(4 web hits)

CGI sample GS01669-DNA_A04 from PGP sample 081884262
AK2 A209Tinsufficiently evaluated not reviewed, f=0.010unknown

(12 web hits)

CGI sample GS00253-DNA_E01_200_372
PHACTR4 T27Pinsufficiently evaluated not reviewed, f=0.014unknown

(1 web hit)

var-GS18508-1100-36-ASM2
C9ORF84 R1425Cinsufficiently evaluated not reviewed, f=0.015unknown

(2 web hits)

hu3215A7 build 36 substitution variants2
CCRL2 Y16Cinsufficiently evaluated unknownunknown

(7 web hits)

hu728FFF build 36 substitution variants2
NDUFAF1 E176Kinsufficiently evaluated none, f=0.032unknown

(3 web hits)

CGI sample GS00253-DNA_A01_200_372
TGS1 I160Vinsufficiently evaluated not reviewed, f=0.017unknown

(4 web hits)

var-GS19239-1100-36-ASM2
RIPK3 E260Vinsufficiently evaluated none, f=0.002unknown

(6 web hits)

var-GS19129-1100-36-ASM2
PLXNB1 S753Linsufficiently evaluated none, f=0.016unknown

(6 web hits)

var-GS19129-1100-36-ASM2
JAM2 H7Qinsufficiently evaluated not reviewed, f=0.013unknown

(16 web hits)

var-GS18502-1100-36-ASM2
ZNF763 R359Ginsufficiently evaluated not reviewed, f=0.016unknown

(1 web hit)

var-GS19239-1100-36-ASM2
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_37 (hom)2
ZNF274 Q45Rinsufficiently evaluated none, f=0.010unknown

(1 web hit)

var-GS12004-1100-36-ASM2
TNS1 V25Iinsufficiently evaluated not reviewed, f=0.026unknown

(1 web hit)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
NEBL V538Linsufficiently evaluated none, f=0.008unknown

(3 web hits)

var-GS18956-1100-36-ASM2
KIAA1644 S197Linsufficiently evaluated none, f=0.015unknown

(1 web hit)

var-GS19648-1100-36-ASM2
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 273169832
TBC1D4 P619Linsufficiently evaluated none, f=0.004unknown

(2 web hits)

CGI sample GS00253-DNA_C01_200_372
SRPX D42Ninsufficiently evaluated not reviewed, f=0.011unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)2
C15ORF2 W152Rinsufficiently evaluated none, f=0.028unknown

(1 web hit)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
NELL2 V5Iinsufficiently evaluated none, f=0.024unknown

(7 web hits)

var-GS18517-1100-36-ASM2
DARC R91Cinsufficiently evaluated not reviewed, f=0.008unknown

(9 web hits)

2
NUPL1 S166Pinsufficiently evaluated none, f=0.032unknown

(4 web hits)

hu34D5B9 exome2
SLC14A1 D280Ninsufficiently evaluated noneunknown

(9 web hits)

hu728FFF build 36 substitution variants2
CARD6 I194Vinsufficiently evaluated none, f=0.010unknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_372
TMEM132C T618Sinsufficiently evaluated none, f=0.014unknown

(3 web hits)

CGI sample GS01669-DNA_A04 from PGP sample 081884262
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)2
C3ORF21 R276Pinsufficiently evaluated none, f=0.000unknown

(1 web hit)

CGI sample GS01175-DNA_B01 from PGP sample 862060342
SRGAP3 Q324Linsufficiently evaluated not reviewed, f=0.002unknown

(2 web hits)

var-GS19026-1100-36-ASM2
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)2
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
LECT2 G63Einsufficiently evaluated not reviewed, f=0.013unknown

(1 web hit)

CGI sample GS00253-DNA_B01_200_372
SH2D3C G296Rinsufficiently evaluated unknownunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)2
KIAA1244 T491Minsufficiently evaluated not reviewed, f=0.010unknown

(3 web hits)

var-GS19017-1100-36-ASM2
QSOX1 R605Pinsufficiently evaluated none, f=0.022unknown

(3 web hits)

var-GS18517-1100-36-ASM2
CR2 G559Einsufficiently evaluated not reviewed, f=0.001unknown

(1 web hit)

CGI sample GS00253-DNA_D01_200_372
FASN V1483Iinsufficiently evaluated none, f=0.038unknown

(34 web hits)

CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)2
TBXAS1 E450Kinsufficiently evaluated none, f=0.016unknown

(10 web hits)

var-GS06985-1100-36-ASM2
EID2 E60Ainsufficiently evaluated none, f=0.037unknown

(5 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 947974692
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS00253-DNA_F01_200_37 (hom)2
PUS3 R53Hinsufficiently evaluated not reviewed, f=0.004unknown

(1 web hit)

CGI sample GS01669-DNA_B03 from PGP sample 144272412
SH2D3A R157Qinsufficiently evaluated none, f=0.028unknown

(1 web hit)

CGI sample GS00253-DNA_B01_200_372
OR2T1 T308Sinsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS19026-1100-36-ASM2
CACNG5 V194Iinsufficiently evaluated none, f=0.000unknown

(5 web hits)

var-GS18526-1100-36-ASM2
C12ORF35 T1338Ainsufficiently evaluated none, f=0.001unknown

(2 web hits)

var-GS18947-1100-36-ASM2
PLEKHG4B A660Vinsufficiently evaluated none, f=0.003unknown

(1 web hit)

var-GS18537-1100-36-ASM2
C6ORF27 G704Vinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS06994-1100-36-ASM2
DHX57 G49Sinsufficiently evaluated unknown, f=0.009unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 745213722
LARGE E71Kinsufficiently evaluated not reviewed, f=0.001unknown

(130 web hits)

CGI sample GS00253-DNA_A02_200_372
IL17RE A7Vinsufficiently evaluated none, f=0.007unknown

(1 web hit)

CGI sample GS01173-DNA_B02 from PGP sample 943785232
MAGEB6 R98Hinsufficiently evaluated not reviewed, f=0.032unknown

(2 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)2
PAK4 R135Qinsufficiently evaluated not reviewed, f=0.014unknown

(4 web hits)

CGI sample GS01175-DNA_B04 from PGP sample 885906712
HDAC6 R832Hinsufficiently evaluated none, f=0.022unknown

(2 web hits)

CGI sample GS00253-DNA_F01_200_37 (hom)2
OR4A47 A192Dinsufficiently evaluated none, f=0.009unknown

(3 web hits)

var-GS19026-1100-36-ASM2
C9ORF50 R312Qinsufficiently evaluated none, f=0.001unknown

(4 web hits)

var-GS18942-1100-36-ASM2
PCDHB1 D596Ginsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

CGI sample GS00253-DNA_D01_200_372
GALNTL2 V68Ginsufficiently evaluated none, f=0.010unknown

(3 web hits)

var-GS19703-1100-36-ASM2
DISP2 R1247Winsufficiently evaluated none, f=0.000unknown

(2 web hits)

var-GS18526-1100-36-ASM2
ZBTB25 I89Tinsufficiently evaluated none, f=0.000unknown

(1 web hit)

var-GS18558-1100-36-ASM2
C1ORF135 K82Tinsufficiently evaluated none, f=0.044unknown

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 745213722
C12ORF35 T1338Ainsufficiently evaluated none, f=0.001unknown

(2 web hits)

CGI sample GS01173-DNA_H06 from PGP sample 917084242
CCDC110 S817Linsufficiently evaluated none, f=0.004unknown

(1 web hit)

var-GS19129-1100-36-ASM2
KIAA1109 S2521Rinsufficiently evaluated none, f=0.011unknown

(1 web hit)

hu232307 build 36 substitution variants2
PRKDC M333Iinsufficiently evaluated none, f=0.032unknown

(8 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 947974692
CNKSR1 H687Yinsufficiently evaluated not reviewed, f=0.016unknown

(4 web hits)

var-GS19026-1100-36-ASM2
TRIM24 N762Sinsufficiently evaluated unknownunknown

(4 web hits)

hu728FFF build 36 substitution variants2
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)2
TNN A70Tinsufficiently evaluated not reviewed, f=0.009unknown

(15 web hits)

CGI sample GS00253-DNA_A02_200_372
UNC5C A679Vinsufficiently evaluated none, f=0.005unknown

(1 web hit)

var-GS19129-1100-36-ASM2
GRK4 A116Tinsufficiently evaluated not reviewed, f=0.030unknown

(7 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 694886042
PRELP N348Hinsufficiently evaluated none, f=0.022unknown

(3 web hits)

var-GS07357-1100-36-ASM2
SEC23B V426Iinsufficiently evaluated not reviewed, f=0.043unknown

(3 web hits)

CGI sample GS01175-DNA_D03 from PGP sample 274861992
MLL E502Kinsufficiently evaluated not reviewed, f=0.004unknown

(6 web hits)

CGI sample GS00253-DNA_G01_200_372
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
PRKDC M333Iinsufficiently evaluated none, f=0.032unknown

(8 web hits)

CGI sample GS01669-DNA_B05 from PGP sample 864862612
DKK3 S93Ginsufficiently evaluated none, f=0.003unknown

(1 web hit)

var-GS18517-1100-36-ASM2
DLX4 N44Sinsufficiently evaluated none, f=0.050unknown

(1 web hit)

CGI sample GS01669-DNA_C05 from PGP sample 424080462
TECTA P479Linsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS19129-1100-36-ASM2
HLA-C A176Vinsufficiently evaluated noneunknown

(2 web hits)

hu34D5B9 exome (hom)2
TM7SF2 A119Vinsufficiently evaluated none, f=0.024unknown

(5 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089812
PRLHR P305Linsufficiently evaluated none, f=0.032unknown

(4 web hits)

var-GS21767-1100-36-ASM2
BNIP1 Q14Hinsufficiently evaluated none, f=0.004unknown

(4 web hits)

var-GS18517-1100-36-ASM2
MAST2 G1468Ainsufficiently evaluated none, f=0.021unknown

(4 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089812
MYO9A H1795Yinsufficiently evaluated not reviewed, f=0.017unknown

(4 web hits)

var-GS19025-1100-36-ASM2
SULT6B1 V37Dinsufficiently evaluated not reviewed, f=0.026unknown

(4 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)2
SPATA16 M526Tinsufficiently evaluated not reviewed, f=0.017unknown

(3 web hits)

CGI sample GS00253-DNA_C01_200_372
LTK D474Ninsufficiently evaluated none, f=0.008unknown

(10 web hits)

2
CD163L1 G1055Sinsufficiently evaluated not reviewed, f=0.006unknown

(3 web hits)

CGI sample GS00253-DNA_B01_200_372
SH2D3C G100Rinsufficiently evaluated unknownunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)2
CR1 R1626Hinsufficiently evaluated none, f=0.015unknown

(4 web hits)

var-GS18504-1100-36-ASM2
PRR15 P124Hinsufficiently evaluated none, f=0.051unknown

(1 web hit)

var-GS20509-1100-36-ASM2
MS4A13 G3Dinsufficiently evaluated none, f=0.017unknown

(2 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
NFATC3 P382Sinsufficiently evaluated not reviewed, f=0.006unknown

(3 web hits)

var-GS19025-1100-36-ASM2
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)2
RBM6 S353Finsufficiently evaluated not reviewed, f=0.016unknown

(6 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
HSPA14 T104Ninsufficiently evaluated not reviewed, f=0.006unknown

(1 web hit)

CGI sample GS00253-DNA_C01_200_372
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)2
ADAM7 I205Vinsufficiently evaluated not reviewed, f=0.004unknown

(6 web hits)

CGI sample GS00253-DNA_B02_200_372
PRR15 P124Hinsufficiently evaluated none, f=0.051unknown

(1 web hit)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
ULK2 P242Sinsufficiently evaluated not reviewed, f=0.019unknown

(4 web hits)

CGI sample GS00253-DNA_H01_200_372
C1ORF14 V491Minsufficiently evaluated not reviewed, f=0.019unknown

(3 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
OR2T8 T179Ainsufficiently evaluated noneunknown

(8 web hits)

hu232307 build 36 substitution variants2
TMOD4 A222Ginsufficiently evaluated not reviewed, f=0.004unknown

(3 web hits)

CGI sample GS00253-DNA_D01_200_372
SERPINA12 Q142Kinsufficiently evaluated none, f=0.010unknown

(5 web hits)

var-GS19129-1100-36-ASM2
TP53INP1 C75Rinsufficiently evaluated not reviewed, f=0.006unknown

(2 web hits)

CGI sample GS00253-DNA_B02_200_372
LRP12 S675Ginsufficiently evaluated unknownunknown

(5 web hits)

hu728FFF build 36 substitution variants2
SI P1200Sinsufficiently evaluated none, f=0.001unknown

(27 web hits)

var-GS18517-1100-36-ASM2
EPN1 G523Ainsufficiently evaluated none, f=0.018unknown

(2 web hits)

CGI sample GS0000069092
ZBED5 I480Vinsufficiently evaluated not reviewed, f=0.025unknown

(4 web hits)

CGI sample GS00253-DNA_D01_200_372
TRPM5 V335Linsufficiently evaluated none, f=0.084unknown

(3 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
PTGER3 T319Minsufficiently evaluated none, f=0.008unknown

(9 web hits)

var-GS18956-1100-36-ASM2
C17ORF48 L92Rinsufficiently evaluated not reviewed, f=0.013unknown

(3 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 834943702
MAGEB6 R98Hinsufficiently evaluated not reviewed, f=0.032unknown

(2 web hits)

var-GS19704-1100-36-ASM2
MDC1 R179Cinsufficiently evaluated none, f=0.019unknown

(5 web hits)

CGI sample GS00253-DNA_H01_200_372
SPINT1 P321Linsufficiently evaluated none, f=0.019unknown

(4 web hits)

var-GS18508-1100-36-ASM2
SRRM2 T856Rinsufficiently evaluated not reviewed, f=0.012unknown

(1 web hit)

CGI sample GS01175-DNA_B04 from PGP sample 885906712
WDR8 I331Minsufficiently evaluated none, f=0.049unknown

(7 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
TNK2 R826Qinsufficiently evaluated none, f=0.008unknown

(4 web hits)

var-GS18956-1100-36-ASM2
BVES R129Winsufficiently evaluated none, f=0.001unknown

(5 web hits)

var-GS18555-1100-36-ASM2
ARSG A11Vinsufficiently evaluated not reviewed, f=0.019unknown

(8 web hits)

CGI sample GS00253-DNA_B02_200_372
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)2
C14ORF37 V528Finsufficiently evaluated none, f=0.000unknown

(1 web hit)

var-GS20502-1100-36-ASM2
TEX15 S1990Ninsufficiently evaluated none, f=0.018unknown

(1 web hit)

CGI sample GS00253-DNA_D01_200_372
DACT1 S628Ainsufficiently evaluated none, f=0.022unknown

(3 web hits)

var-GS18502-1100-36-ASM2
TMEM132C T618Sinsufficiently evaluated none, f=0.014unknown

(3 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 943785232
NFKBIE H95Qinsufficiently evaluated none, f=0.017unknown

(5 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
YIPF5 A76Vinsufficiently evaluated unknown, f=0.017unknown

(1 web hit)

hu728FFF build 36 substitution variants2
MRO A2Einsufficiently evaluated none, f=0.008unknown

(3480 web hits)

var-GS18537-1100-36-ASM2
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
SEMG1 S193Ninsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18956-1100-36-ASM2
PRAMEF1 V444Finsufficiently evaluated not reviewedunknown

(1 web hit)

var-GS19240-1100-36-ASM2
PTCHD3 A224Ginsufficiently evaluated not reviewed, f=0.036unknown

(1 web hit)

var-GS18501-1100-36-ASM2
APOH S107Ninsufficiently evaluated not reviewed, f=0.034unknown

(14 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 694886042
ZNF155 K379Rinsufficiently evaluated none, f=0.000unknown

(3 web hits)

var-GS18537-1100-36-ASM2
ALAS2 R218Cinsufficiently evaluated none, f=0.011unknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_372
ADH7 R132Hinsufficiently evaluated not reviewed, f=0.001unknown

(22 web hits)

hu3215A7 build 36 substitution variants2
ICAM1 P352Linsufficiently evaluated none, f=0.022unknown

(36 web hits)

var-GS06985-1100-36-ASM2
YIPF3 A5Vinsufficiently evaluated not reviewed, f=0.026unknown

(3 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089812
HLA-C A176Vinsufficiently evaluated noneunknown

(2 web hits)

hu232307 build 36 substitution variants (hom)2
ALPP E451Ginsufficiently evaluated not reviewed, f=0.002unknown

(14 web hits)

hu3215A7 build 36 substitution variants2
OR12D2 V132Ginsufficiently evaluated none, f=0.006unknown

(1 web hit)

var-GS18517-1100-36-ASM2
FASN V1483Iinsufficiently evaluated none, f=0.038unknown

(34 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 273169832
MEP1B V326Minsufficiently evaluated not reviewed, f=0.027unknown

(3 web hits)

CGI sample GS00253-DNA_B02_200_372
C20ORF70 K113Einsufficiently evaluated not reviewed, f=0.006unknown

(1 web hit)

CGI sample GS00253-DNA_G01_200_372
IL17RE D308Ninsufficiently evaluated none, f=0.005unknown

(1 web hit)

var-GS18502-1100-36-ASM2
CHRNA3 R37Hinsufficiently evaluated none, f=0.036unknown

(13 web hits)

var-GS06994-1100-36-ASM2
SLC6A15 A400Vinsufficiently evaluated none, f=0.009unknown

(3 web hits)

CGI sample GS01173-DNA_H06 from PGP sample 917084242
CALHM2 A96Tinsufficiently evaluated none, f=0.013unknown

(1 web hit)

CGI sample GS0000055322
OSBPL7 T156Iinsufficiently evaluated none, f=0.009unknown

(3 web hits)

var-GS19129-1100-36-ASM2
PSMD9 T74Iinsufficiently evaluated none, f=0.008unknown

(6 web hits)

var-GS18942-1100-36-ASM2
RPL10L E180Kinsufficiently evaluated none, f=0.007unknown

(3 web hits)

var-GS19129-1100-36-ASM2
EZR A494Pinsufficiently evaluated not reviewed, f=0.018unknown

(2 web hits)

CGI sample GS00253-DNA_B02_200_372
OPN4 G444Dinsufficiently evaluated not reviewed, f=0.008unknown

(3 web hits)

var-GS18505-1100-36-ASM2
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 424080462
PRR15 P124Hinsufficiently evaluated none, f=0.051unknown

(1 web hit)

hu34D5B9 exome2
TPD52 D52Yinsufficiently evaluated none, f=0.018unknown

(1 web hit)

CGI sample GS01173-DNA_A07 from PGP sample 962400092
NR1I2 A409Tinsufficiently evaluated none, f=0.005unknown

(9 web hits)

var-GS18517-1100-36-ASM2
SURF6 T311Minsufficiently evaluated none, f=0.014unknown

(1 web hit)

CGI sample GS01175-DNA_F02 from PGP sample 957881912
ZBTB4 A539Vinsufficiently evaluated none, f=0.011unknown

(4 web hits)

var-GS18501-1100-36-ASM2
PDE7A G50Einsufficiently evaluated none, f=0.047unknown

(13 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)2
GHRHR M422Tinsufficiently evaluated none, f=0.015unknown

(12 web hits)

CGI sample GS01175-DNA_B04 from PGP sample 885906712
DAK I67Tinsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS18555-1100-36-ASM2
CARS A241Sinsufficiently evaluated none, f=0.009unknown

(3 web hits)

var-GS20502-1100-36-ASM2
KRI1 S315Linsufficiently evaluated none, f=0.016unknown

(3 web hits)

var-GS19129-1100-36-ASM2
PTCHD3 T126Ainsufficiently evaluated not reviewed, f=0.035unknown

(2 web hits)

var-GS21767-1100-36-ASM2
CYP11B2 V386Ainsufficiently evaluated not reviewed, f=0.063unknown

(146 web hits)

var-GS19026-1100-36-ASM2
WDR62 G1375Sinsufficiently evaluated none, f=0.032unknown

(4 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 834943702
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)2
NHS A230Tinsufficiently evaluated none, f=0.001unknown

(1 web hit)

var-GS19129-1100-36-ASM2
CLUAP1 V196Finsufficiently evaluated not reviewed, f=0.007unknown

(1 web hit)

var-GS21767-1100-36-ASM2
C6ORF97 E345Kinsufficiently evaluated none, f=0.006unknown

(1 web hit)

var-GS12004-1100-36-ASM2
ARHGEF10 V700Iinsufficiently evaluated not reviewed, f=0.031unknown

(10 web hits)

CGI sample GS01175-DNA_F02 from PGP sample 957881912
EPN1 G523Ainsufficiently evaluated none, f=0.018unknown

(2 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 943785232
C20ORF151 A437Tinsufficiently evaluated not reviewed, f=0.005unknown

(1 web hit)

var-GS19700-1100-36-ASM2
BPI K451Einsufficiently evaluated none, f=0.002unknown

(2 web hits)

var-GS18517-1100-36-ASM2
SCRN2 K103Rinsufficiently evaluated none, f=0.028unknown

(4 web hits)

CGI sample GS00253-DNA_D01_200_372
C1ORF64 V95Minsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS18956-1100-36-ASM2
SLC39A2 H154Yinsufficiently evaluated none, f=0.000unknown

(3 web hits)

var-GS18956-1100-36-ASM2
ZNF860 R627Cinsufficiently evaluated not reviewed, f=0.021unknown

(1 web hit)

CGI sample GS01669-DNA_C05 from PGP sample 424080462
C17ORF48 L92Rinsufficiently evaluated not reviewed, f=0.013unknown

(3 web hits)

CGI sample GS01175-DNA_F02 from PGP sample 957881912
LYZ L4Vinsufficiently evaluated none, f=0.003unknown

(276 web hits)

var-GS19704-1100-36-ASM2
BHMT P197Sinsufficiently evaluated not reviewed, f=0.009unknown

(3 web hits)

var-GS19834-1100-36-ASM2
EED T50Pinsufficiently evaluated not reviewed, f=0.000unknown

(20 web hits)

CGI sample GS00253-DNA_E01_200_372
ZNF574 R332Qinsufficiently evaluated none, f=0.000unknown

(3 web hits)

var-GS18558-1100-36-ASM2
CYP11B2 V386Ainsufficiently evaluated not reviewed, f=0.063unknown

(146 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 424080462
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)2
CFD I248Minsufficiently evaluated none, f=0.000unknown

(6 web hits)

var-GS18526-1100-36-ASM2
AOC2 I5Vinsufficiently evaluated not reviewed, f=0.021unknown

(41 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 943785232
SPEG R206Hinsufficiently evaluated none, f=0.012unknown

(4 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 947974692
TLR6 G592Vinsufficiently evaluated none, f=0.000unknown

(1 web hit)

CGI sample GS01669-DNA_F02 from PGP sample 407671072
ZNF860 R627Cinsufficiently evaluated not reviewed, f=0.021unknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_372
SPEG R206Hinsufficiently evaluated none, f=0.012unknown

(4 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089812
ABCF3 P503Linsufficiently evaluated none, f=0.031unknown

(7 web hits)

CGI sample GS01173-DNA_B07 from PGP sample 614995382
POF1B C239Sinsufficiently evaluated not reviewed, f=0.008unknown

(4 web hits)

CGI sample GS00253-DNA_B01_200_37 (hom)2
WDR62 G1375Sinsufficiently evaluated none, f=0.032unknown

(4 web hits)

CGI sample GS00253-DNA_A01_200_372
RELN S630Rinsufficiently evaluated not reviewed, f=0.023unknown

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 745213722
SPEG R206Hinsufficiently evaluated none, f=0.012unknown

(4 web hits)

CGI sample GS01669-DNA_B05 from PGP sample 864862612
COL8A2 R155Qinsufficiently evaluated none, f=0.001unknown

(21 web hits)

var-GS18947-1100-36-ASM2
PTX3 H39Qinsufficiently evaluated not reviewed, f=0.017unknown

(1 web hit)

var-GS19704-1100-36-ASM2
SYT5 E4Dinsufficiently evaluated none, f=0.008unknown

(13 web hits)

var-GS18942-1100-36-ASM2
STAT2 G825Cinsufficiently evaluated not reviewed, f=0.008unknown

(2 web hits)

CGI sample GS00253-DNA_G01_200_372
NUPL1 S166Pinsufficiently evaluated none, f=0.032unknown

(4 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 312862722
TC2N K151Minsufficiently evaluated not reviewedunknown

(8 web hits)

CGI sample GS0000055322
OSM T9Minsufficiently evaluated none, f=0.000unknown

(474 web hits)

var-GS18537-1100-36-ASM2
ALDH3A1 Y305Finsufficiently evaluated none, f=0.009unknown

(4 web hits)

var-GS19129-1100-36-ASM2
ZFP90 H114Yinsufficiently evaluated not reviewed, f=0.011unknown

(1 web hit)

CGI sample GS01175-DNA_D05 from PGP sample 12054912
NPHP4 R740Hinsufficiently evaluated none, f=0.024unknown

(2 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 925275862
CGI sample GS01175-DNA_F02 from PGP sample 95788191
YIPF3 A5Vinsufficiently evaluated not reviewed, f=0.026unknown

(3 web hits)

CGI sample GS01175-DNA_F02 from PGP sample 957881912
E2F1 G200Sinsufficiently evaluated not reviewed, f=0.019unknown

(12 web hits)

CGI sample GS00253-DNA_B01_200_372
WDR49 R10Hinsufficiently evaluated none, f=0.001unknown

(5 web hits)

var-GS18517-1100-36-ASM2
UGT1A10 E139Kinsufficiently evaluated noneunknown

(3 web hits)

2
ZNF19 R224Qinsufficiently evaluated none, f=0.024unknown

(7 web hits)

var-GS20509-1100-36-ASM2
TRPM1 N1229Tinsufficiently evaluated none, f=0.043unknown

(4 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089812
NUPL1 S166Pinsufficiently evaluated none, f=0.032unknown

(4 web hits)

var-GS20509-1100-36-ASM2
ANKRD30A T555Ainsufficiently evaluated none, f=0.009unknown

(5 web hits)

var-GS18555-1100-36-ASM2
POLE3 S116Pinsufficiently evaluated not reviewed, f=0.008unknown

(7 web hits)

CGI sample GS00253-DNA_D01_200_372
LILRB2 D403Ninsufficiently evaluated none, f=0.004unknown

(4 web hits)

var-GS19238-1100-36-ASM2
APOC2 E60Kinsufficiently evaluated none, f=0.003unknown

(1 web hit)

var-GS19129-1100-36-ASM2
C9ORF79 T671Minsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS19129-1100-36-ASM2
SULT1A2 Y62Finsufficiently evaluated not reviewed, f=0.006unknown

(19 web hits)

CGI sample GS01669-DNA_B05 from PGP sample 864862612
REV3L S1220Linsufficiently evaluated none, f=0.032unknown

(17 web hits)

var-GS19026-1100-36-ASM2
EID2 E60Ainsufficiently evaluated none, f=0.037unknown

(5 web hits)

CGI sample GS01669-DNA_B03 from PGP sample 144272412
E2F1 G200Sinsufficiently evaluated not reviewed, f=0.019unknown

(12 web hits)

CGI sample GS00253-DNA_H01_200_372
SI S200Ginsufficiently evaluated not reviewed, f=0.012unknown

(58 web hits)

var-GS18504-1100-36-ASM2
MDC1 R179Cinsufficiently evaluated none, f=0.019unknown

(5 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
MIPOL1 Q141Linsufficiently evaluated none, f=0.012unknown

(2 web hits)

var-GS19701-1100-36-ASM2
SH2D3C G297Rinsufficiently evaluated unknownunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)2
SURF6 T311Minsufficiently evaluated none, f=0.014unknown

(1 web hit)

var-GS19701-1100-36-ASM2
ZNF222 G263Dinsufficiently evaluated not reviewed, f=0.016unknown

(4 web hits)

var-GS19704-1100-36-ASM2
DNMT1 R69Hinsufficiently evaluated not reviewed, f=0.008unknown

(4 web hits)

CGI sample GS00253-DNA_C01_200_372
ABCF3 P503Linsufficiently evaluated none, f=0.031unknown

(7 web hits)

var-GS19648-1100-36-ASM2
XIRP2 I608Vinsufficiently evaluated none, f=0.008unknown

(3 web hits)

var-GS18537-1100-36-ASM2
IL9R N439Sinsufficiently evaluated not reviewedunknown

(1 web hit)

hu3215A7 build 36 substitution variants2
CAND2 H562Rinsufficiently evaluated not reviewed, f=0.008unknown

(3 web hits)

var-GS18501-1100-36-ASM2
CFHR1 Q242Einsufficiently evaluated not reviewed, f=0.028unknown

(4 web hits)

var-GS19240-1100-36-ASM2
TUSC3 I65Vinsufficiently evaluated not reviewed, f=0.006unknown

(3 web hits)

CGI sample GS00253-DNA_D01_200_372
MLLT6 A198Tinsufficiently evaluated none, f=0.000unknown

(7 web hits)

var-GS18555-1100-36-ASM2
CYP11B2 V386Ainsufficiently evaluated not reviewed, f=0.063unknown

(146 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)2
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
PKD1L2 G1081Vinsufficiently evaluated not reviewed, f=0.015unknown

(1 web hit)

var-GS18502-1100-36-ASM2
C6ORF118 R166Linsufficiently evaluated not reviewed, f=0.010unknown

(1 web hit)

var-GS18504-1100-36-ASM2
SPATA16 M526Tinsufficiently evaluated not reviewed, f=0.017unknown

(3 web hits)

hu34D5B9 exome2
ULK2 P242Sinsufficiently evaluated not reviewed, f=0.019unknown

(4 web hits)

CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)2
ANGPT4 E395Kinsufficiently evaluated not reviewed, f=0.013unknown

(6 web hits)

CGI sample GS00253-DNA_A02_200_372
ABCB1 I836Vinsufficiently evaluated none, f=0.001unknown

(8 web hits)

var-GS19129-1100-36-ASM2
MAP3K14 S140Ninsufficiently evaluated none, f=0.008unknown

(7 web hits)

CGI sample GS01175-DNA_D05 from PGP sample 12054912
NT5C2 Q136Rinsufficiently evaluated none, f=0.001unknown

(49 web hits)

var-GS18517-1100-36-ASM2
P2RX7 G150Rinsufficiently evaluated not reviewed, f=0.013unknown

(12 web hits)

CGI sample GS00253-DNA_E01_200_372
KIAA1109 S2521Rinsufficiently evaluated none, f=0.011unknown

(1 web hit)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
SULT1C2 R293Tinsufficiently evaluated not reviewed, f=0.000unknown

(3 web hits)

var-GS18501-1100-36-ASM2
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37 (hom)2
PPFIBP1 C436Rinsufficiently evaluated not reviewed, f=0.020unknown

(1 web hit)

var-GS19703-1100-36-ASM2
AQP8 A212Tinsufficiently evaluated not reviewed, f=0.016unknown

(2 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 273169832
SCRN2 Q330Rinsufficiently evaluated none, f=0.022unknown

(9 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 273169832
PTPN3 D77Ninsufficiently evaluated not reviewed, f=0.004unknown

(7 web hits)

var-GS18508-1100-36-ASM2
FAM73B G212Sinsufficiently evaluated none, f=0.008unknown

(4 web hits)

var-GS18555-1100-36-ASM2
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 109715812
PPP1R15A E442Kinsufficiently evaluated none, f=0.002unknown

(1 web hit)

var-GS18517-1100-36-ASM2
RAP1GDS1 V106Minsufficiently evaluated not reviewed, f=0.002unknown

(10 web hits)

CGI sample GS00253-DNA_C01_200_372
NUPL1 S166Pinsufficiently evaluated none, f=0.032unknown

(4 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 745213722
PLAT A195Vinsufficiently evaluated none, f=0.008unknown

(5 web hits)

var-GS18555-1100-36-ASM2
TRPM5 V335Linsufficiently evaluated none, f=0.084unknown

(3 web hits)

CGI sample GS01175-DNA_D05 from PGP sample 12054912
CLCN2 R688Qinsufficiently evaluated none, f=0.016unknown

(4 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 745213722
NQO2 G58Dinsufficiently evaluated not reviewed, f=0.022unknown

(11 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 745213722
IL17RE A7Vinsufficiently evaluated none, f=0.007unknown

(1 web hit)

CGI sample GS01175-DNA_B05 from PGP sample 834943702
SERPINF1 P132Rinsufficiently evaluated none, f=0.023unknown

(5 web hits)

hu232307 build 36 substitution variants2
STAT2 G825Cinsufficiently evaluated not reviewed, f=0.008unknown

(2 web hits)

CGI sample GS01175-DNA_D05 from PGP sample 12054912
ROBO1 E1533Dinsufficiently evaluated none, f=0.012unknown

(2 web hits)

var-GS18505-1100-36-ASM2
GUCY2F V677Linsufficiently evaluated none, f=0.014unknown

(2 web hits)

CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)2
SULT6B1 V37Dinsufficiently evaluated not reviewed, f=0.026unknown

(4 web hits)

CGI sample GS01175-DNA_D03 from PGP sample 274861992
SREBF1 A339Tinsufficiently evaluated none, f=0.005unknown

(6 web hits)

var-GS19129-1100-36-ASM2
MAST2 G1468Ainsufficiently evaluated none, f=0.021unknown

(4 web hits)

var-GS18558-1100-36-ASM2
NIN S1837Tinsufficiently evaluated none, f=0.024unknown

(10 web hits)

CGI sample GS0000069092
TPD52 D52Yinsufficiently evaluated none, f=0.018unknown

(1 web hit)

hu34D5B9 exome2
ZNF274 Q45Rinsufficiently evaluated none, f=0.010unknown

(1 web hit)

CGI sample GS01175-DNA_B04 from PGP sample 885906712
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_372
ZNF717 W315Cinsufficiently evaluated none, f=0.011unknown

(1 web hit)

var-GS19834-1100-36-ASM2
TSPAN8 V35Iinsufficiently evaluated none, f=0.010unknown

(8 web hits)

CGI sample GS00253-DNA_F01_200_372
MARCO E511Dinsufficiently evaluated none, f=0.013unknown

(1 web hit)

var-GS19669-1100-36-ASM2
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)2
TRPM5 V335Linsufficiently evaluated none, f=0.084unknown

(3 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 424080462
ZP2 W73Linsufficiently evaluated none, f=0.001unknown

(1 web hit)

var-GS18517-1100-36-ASM2
PAK4 R135Qinsufficiently evaluated not reviewed, f=0.014unknown

(4 web hits)

CGI sample GS00253-DNA_C01_200_37 (hom)2
SPOCK2 T268Minsufficiently evaluated none, f=0.001unknown

(1 web hit)

var-GS18517-1100-36-ASM2
EPB41L4A R587Linsufficiently evaluated not reviewed, f=0.013unknown

(1 web hit)

CGI sample GS00253-DNA_B01_200_372
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01669-DNA_A04 from PGP sample 081884262
CNTN5 R53Xinsufficiently evaluated not reviewed, f=0.232unknown

(2 web hits)

hu34D5B9 exome2
LOH12CR1 D191Yinsufficiently evaluated not reviewed, f=0.008unknown

(2 web hits)

2
DOCK4 F1580Linsufficiently evaluated none, f=0.000unknown

(5 web hits)

var-GS18947-1100-36-ASM2
ARAP1 V1408Minsufficiently evaluated none, f=0.001unknown

(4 web hits)

var-GS18956-1100-36-ASM2
MACC1 A151Vinsufficiently evaluated not reviewed, f=0.018unknown

(1 web hit)

CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)2
SEC23B V426Iinsufficiently evaluated not reviewed, f=0.043unknown

(3 web hits)

CGI sample GS00253-DNA_D01_200_372
AOC2 I5Vinsufficiently evaluated not reviewed, f=0.021unknown

(41 web hits)

CGI sample GS00253-DNA_A02_200_372
PECI V355Minsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS19129-1100-36-ASM2
CNKSR1 H687Yinsufficiently evaluated not reviewed, f=0.016unknown

(4 web hits)

var-GS21767-1100-36-ASM2
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)2
GALNT5 P77Linsufficiently evaluated none, f=0.000unknown

(9 web hits)

var-GS18555-1100-36-ASM2
AMTN P18Sinsufficiently evaluated not reviewed, f=0.006unknown

(4 web hits)

hu3215A7 build 36 substitution variants2
PRLHR P305Linsufficiently evaluated none, f=0.032unknown

(4 web hits)

CGI sample GS00253-DNA_A01_200_372
CLCN2 R688Qinsufficiently evaluated none, f=0.016unknown

(4 web hits)

hu232307 build 36 substitution variants2
PARP1 V334Iinsufficiently evaluated none, f=0.003unknown

(18 web hits)

var-GS18517-1100-36-ASM2
ABL2 K812Rinsufficiently evaluated unknownunknown

(9 web hits)

hu728FFF build 36 substitution variants2
ROBO4 P718Linsufficiently evaluated none, f=0.004unknown

(6 web hits)

var-GS18517-1100-36-ASM2
C6ORF191 N60Iinsufficiently evaluated none, f=0.014unknown

(2 web hits)

var-GS18517-1100-36-ASM2
MAPK8IP1 R353Qinsufficiently evaluated none, f=0.005unknown

(5 web hits)

var-GS18504-1100-36-ASM2
FES P386Linsufficiently evaluated unknownunknown

(1 web hit)

hu728FFF build 36 substitution variants2
PIPOX R211Cinsufficiently evaluated none, f=0.005unknown

(14 web hits)

var-GS19129-1100-36-ASM2
GUCY2F V677Linsufficiently evaluated none, f=0.014unknown

(2 web hits)

var-GS18555-1100-36-ASM2
ZNF766 V198Linsufficiently evaluated not reviewed, f=0.002unknown

(1 web hit)

CGI sample GS00253-DNA_D01_200_372
C9ORF103 G2Ainsufficiently evaluated none, f=0.000unknown

(1 web hit)

var-GS19129-1100-36-ASM2
MASP2 R439Hinsufficiently evaluated none, f=0.033unknown

(11 web hits)

var-GS19704-1100-36-ASM2
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)2
DNAJB9 R136Hinsufficiently evaluated none, f=0.032unknown

(5 web hits)

var-GS19017-1100-36-ASM2
IL17RE A7Vinsufficiently evaluated none, f=0.007unknown

(1 web hit)

CGI sample GS00253-DNA_D01_200_372
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)2
GPR35 A25Tinsufficiently evaluated not reviewed, f=0.009unknown

(5 web hits)

var-GS19670-1100-36-ASM2
EPN1 G411Ainsufficiently evaluated none, f=0.016unknown

(2 web hits)

2
AQP8 A212Tinsufficiently evaluated not reviewed, f=0.016unknown

(2 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089812
SMCP H7Yinsufficiently evaluated none, f=0.009unknown

(13 web hits)

var-GS19129-1100-36-ASM2
CYP11B2 R30Qinsufficiently evaluated not reviewed, f=0.003unknown

(1 web hit)

var-GS18505-1100-36-ASM2
MUC17 P1249Ainsufficiently evaluated not reviewed, f=0.042unknown

(3 web hits)

var-GS19239-1100-36-ASM2
CXORF65 R156Hinsufficiently evaluated not reviewedunknown

(2 web hits)

hu3215A7 build 36 substitution variants (hom)2
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

hu34D5B9 exome (hom)2
ABL2 K915Rinsufficiently evaluated unknown, f=0.011unknown

(9 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 947974692
SPATA17 N16Sinsufficiently evaluated none, f=0.034unknown

(1 web hit)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
LHB A67Ginsufficiently evaluated none, f=0.014unknown

(16 web hits)

var-GS19703-1100-36-ASM2
CHRNA3 R37Hinsufficiently evaluated none, f=0.036unknown

(13 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 424080462
WDR8 I331Minsufficiently evaluated none, f=0.049unknown

(7 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089812
APOH S107Ninsufficiently evaluated not reviewed, f=0.034unknown

(14 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 424080462
TEX15 S1990Ninsufficiently evaluated none, f=0.018unknown

(1 web hit)

CGI sample GS01173-DNA_F02 from PGP sample 700089812
HKR1 V526Iinsufficiently evaluated not reviewed, f=0.003unknown

(1 web hit)

CGI sample GS00253-DNA_B01_200_372
COL16A1 G745Sinsufficiently evaluated none, f=0.005unknown

(4 web hits)

var-GS19703-1100-36-ASM2
MICA H179Linsufficiently evaluated none, f=0.024unknown

(2 web hits)

var-GS18555-1100-36-ASM2
MAGEB6 R98Hinsufficiently evaluated not reviewed, f=0.032unknown

(2 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 103663722
FEN1 R239Qinsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

CGI sample GS00253-DNA_G01_200_372
ZNF763 T338Minsufficiently evaluated not reviewed, f=0.016unknown

(1 web hit)

var-GS19239-1100-36-ASM2
UACA I814Tinsufficiently evaluated none, f=0.008unknown

(6 web hits)

var-GS18947-1100-36-ASM2
CYP11B2 V386Ainsufficiently evaluated not reviewed, f=0.063unknown

(146 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 103663722
EID2 E60Ainsufficiently evaluated none, f=0.037unknown

(5 web hits)

CGI sample GS01175-DNA_B01 from PGP sample 862060342
CCDC94 P240Sinsufficiently evaluated none, f=0.001unknown

(1 web hit)

var-GS18517-1100-36-ASM2
FBXL13 Y565Cinsufficiently evaluated none, f=0.002unknown

(5 web hits)

CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)2
SCRN2 K103Rinsufficiently evaluated none, f=0.028unknown

(4 web hits)

hu34D5B9 exome2
MMRN1 T805Ainsufficiently evaluated none, f=0.008unknown

(6 web hits)

var-GS18956-1100-36-ASM2
ZNF717 C740Ginsufficiently evaluated noneunknown

(2 web hits)

var-GS18956-1100-36-ASM2
SCRN2 Q330Rinsufficiently evaluated none, f=0.022unknown

(9 web hits)

var-GS19649-1100-36-ASM2
AEN E49Dinsufficiently evaluated none, f=0.008unknown

(57 web hits)

var-GS19129-1100-36-ASM2
FBN3 G119Ainsufficiently evaluated none, f=0.000unknown

(8 web hits)

var-GS18956-1100-36-ASM2
SH2D3C G294Rinsufficiently evaluated unknownunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)2
DUSP5 E154Dinsufficiently evaluated none, f=0.004unknown

(7 web hits)

var-GS18956-1100-36-ASM2
VCAM1 I716Linsufficiently evaluated not reviewed, f=0.018unknown

(13 web hits)

var-GS19700-1100-36-ASM2
ZBTB22 G250Ainsufficiently evaluated none, f=0.013unknown

(2 web hits)

var-GS19129-1100-36-ASM2
CYP2W1 R251Winsufficiently evaluated none, f=0.000unknown

(1 web hit)

var-GS18517-1100-36-ASM2
NRP1 F561Linsufficiently evaluated not reviewed, f=0.008unknown

(4 web hits)

CGI sample GS00253-DNA_G01_200_372
SMG6 R1264Qinsufficiently evaluated not reviewed, f=0.004unknown

(1 web hit)

var-GS19020-1100-36-ASM2
MAST2 G1468Ainsufficiently evaluated none, f=0.021unknown

(4 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 407671072
RBM6 S353Finsufficiently evaluated not reviewed, f=0.016unknown

(6 web hits)

CGI sample GS00253-DNA_H01_200_372
ZNF562 F81Linsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18517-1100-36-ASM2
PI16 F7Cinsufficiently evaluated noneunknown

(3 web hits)

2
LARS2 H324Qinsufficiently evaluated none, f=0.026unknown

(76 web hits)

var-GS19670-1100-36-ASM2
ABHD12 V68Minsufficiently evaluated none, f=0.007unknown

(1 web hit)

var-GS19834-1100-36-ASM2
MMP26 I260Minsufficiently evaluated none, f=0.022unknown

(5 web hits)

var-GS19129-1100-36-ASM (hom)2
MAST2 G1468Ainsufficiently evaluated none, f=0.021unknown

(4 web hits)

CGI sample GS01175-DNA_D05 from PGP sample 12054912
FBN3 R473Qinsufficiently evaluated none, f=0.020unknown

(5 web hits)

var-GS19129-1100-36-ASM2
L3MBTL2 I7Vinsufficiently evaluated none, f=0.000unknown

(6 web hits)

var-GS18956-1100-36-ASM2
C1ORF168 I125Minsufficiently evaluated none, f=0.019unknown

(2 web hits)

var-GS19700-1100-36-ASM2
SLCO6A1 A27Vinsufficiently evaluated none, f=0.028unknown

(4 web hits)

var-GS06985-1100-36-ASM2
C2ORF57 R386Cinsufficiently evaluated none, f=0.003unknown

(1 web hit)

var-GS18537-1100-36-ASM2
UNC93A M361Iinsufficiently evaluated unknownunknown

(1 web hit)

hu728FFF build 36 substitution variants2
PDE10A R486Qinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS19129-1100-36-ASM2
GDA V264Minsufficiently evaluated not reviewed, f=0.014unknown

(2 web hits)

CGI sample GS00253-DNA_G01_200_372
CGI sample GS01669-DNA_B05 from PGP sample 86486261
NQO2 G58Dinsufficiently evaluated not reviewed, f=0.022unknown

(11 web hits)

CGI sample GS00253-DNA_H01_200_372
ANXA3 S19Ninsufficiently evaluated not reviewed, f=0.015unknown

(16 web hits)

CGI sample GS00253-DNA_B02_200_372
TCHH R552Sinsufficiently evaluated none, f=0.017unknown

(3 web hits)

var-GS06985-1100-36-ASM2
SGSH R441Qinsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_372
IL11RA R395Winsufficiently evaluated none, f=0.010unknown

(5 web hits)

var-GS20509-1100-36-ASM2
CCL17 K5Ninsufficiently evaluated not reviewed, f=0.025unknown

(4 web hits)

var-GS19700-1100-36-ASM2
C9ORF47 S173Ninsufficiently evaluated not reviewed, f=0.016unknown

(1 web hit)

2
EID2 E60Ainsufficiently evaluated none, f=0.037unknown

(5 web hits)

var-GS10851-1100-36-ASM2
CD163L1 G1055Sinsufficiently evaluated not reviewed, f=0.006unknown

(3 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 947974692
SLC39A2 H154Yinsufficiently evaluated none, f=0.000unknown

(3 web hits)

CGI sample GS01173-DNA_H06 from PGP sample 917084242
PGR I51Tinsufficiently evaluated not reviewed, f=0.003unknown

(4 web hits)

var-GS19020-1100-36-ASM2
CLCN2 R688Qinsufficiently evaluated none, f=0.016unknown

(4 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 834943702
MUC17 D4334Ninsufficiently evaluated none, f=0.010unknown

(3 web hits)

CGI sample GS00253-DNA_A01_200_372
LARS2 H324Qinsufficiently evaluated none, f=0.026unknown

(76 web hits)

CGI sample GS01173-DNA_A07 from PGP sample 962400092
ZNF274 Q45Rinsufficiently evaluated none, f=0.010unknown

(1 web hit)

CGI sample GS01669-DNA_B03 from PGP sample 144272412
APOH S107Ninsufficiently evaluated not reviewed, f=0.034unknown

(14 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 700089812
CDH5 M6Vinsufficiently evaluated not reviewed, f=0.001unknown

(1 web hit)

var-GS19238-1100-36-ASM2
ZFP90 H114Yinsufficiently evaluated not reviewed, f=0.011unknown

(1 web hit)

hu34D5B9 exome2
C14ORF143 D31Ginsufficiently evaluated not reviewed, f=0.015unknown

(3 web hits)

var-GS18501-1100-36-ASM2
MAGEL2 P275Linsufficiently evaluated not reviewed, f=0.004unknown

(1 web hit)

var-GS18517-1100-36-ASM2
YIPF3 A5Vinsufficiently evaluated not reviewed, f=0.026unknown

(3 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
RELN S630Rinsufficiently evaluated not reviewed, f=0.023unknown

(2 web hits)

CGI sample GS00253-DNA_A02_200_372
C1ORF135 K82Tinsufficiently evaluated none, f=0.044unknown

(2 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
ABCA4 V1433Iinsufficiently evaluated pathogenic, f=0.002recessive

This variant was implicated in causing Stargardt Disease (progressive vision loss) in one family (in a screen of 150 with the disease), in a recessive manner. Other variants in this disease are associated with this disease but evidence supporting this particular variant is weak, possibly because this variant is very rare.

(13 web hits)

var-GS18956-1100-36-ASM2
TRPM5 V335Linsufficiently evaluated none, f=0.084unknown

(3 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 273169832
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)2
C15ORF2 W152Rinsufficiently evaluated none, f=0.028unknown

(1 web hit)

CGI sample GS01669-DNA_B05 from PGP sample 864862612
SLC8A1 R613Hinsufficiently evaluated unknownunknown

(2 web hits)

hu728FFF build 36 substitution variants2
DCD D71Ninsufficiently evaluated none, f=0.005unknown

(9 web hits)

var-GS06994-1100-36-ASM2
NPHP4 R740Hinsufficiently evaluated none, f=0.024unknown

(2 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
MICA G137Rinsufficiently evaluated not reviewed, f=0.009unknown

(2 web hits)

var-GS21767-1100-36-ASM2
EPN1 G523Ainsufficiently evaluated none, f=0.018unknown

(2 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 312862722
SRRM2 T856Rinsufficiently evaluated not reviewed, f=0.012unknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_372
OIP5 A61Pinsufficiently evaluated none, f=0.013unknown

(1 web hit)

var-GS18508-1100-36-ASM2
BFSP1 D656Einsufficiently evaluated not reviewed, f=0.016unknown

(9 web hits)

var-GS18508-1100-36-ASM2
SEC23B V426Iinsufficiently evaluated not reviewed, f=0.043unknown

(3 web hits)

CGI sample GS01669-DNA_B03 from PGP sample 144272412
MARCO G109Rinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18555-1100-36-ASM2
TRPM5 V335Linsufficiently evaluated none, f=0.084unknown

(3 web hits)

CGI sample GS01669-DNA_B03 from PGP sample 144272412
AQP8 A212Tinsufficiently evaluated not reviewed, f=0.016unknown

(2 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 943785232
C10ORF18 T1782Iinsufficiently evaluated none, f=0.005unknown

(2 web hits)

var-GS18555-1100-36-ASM2
EXPH5 C1311Rinsufficiently evaluated not reviewed, f=0.012unknown

(2 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 943785232
LECT2 G63Einsufficiently evaluated not reviewed, f=0.013unknown

(1 web hit)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
CACNB3 R423Hinsufficiently evaluated none, f=0.008unknown

(11 web hits)

var-GS18537-1100-36-ASM2
CHML A209Vinsufficiently evaluated none, f=0.022unknown

(1 web hit)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
C1ORF26 L638Finsufficiently evaluated none, f=0.002unknown

(6 web hits)

var-GS18558-1100-36-ASM2
TMEM132C T618Sinsufficiently evaluated none, f=0.014unknown

(3 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)2
LECT2 G63Einsufficiently evaluated not reviewed, f=0.013unknown

(1 web hit)

CGI sample GS01669-DNA_C05 from PGP sample 424080462
TUBAL3 Q135Hinsufficiently evaluated not reviewed, f=0.018unknown

(2 web hits)

var-GS18504-1100-36-ASM2
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS00253-DNA_C01_200_37 (hom)2
DUS4L T178Ainsufficiently evaluated none, f=0.002unknown

(5 web hits)

var-GS18517-1100-36-ASM2
OSBPL5 T90Iinsufficiently evaluated not reviewed, f=0.007unknown

(4 web hits)

hu3215A7 build 36 substitution variants2
ICAM1 P352Linsufficiently evaluated none, f=0.022unknown

(36 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 312862722
TLR6 G592Vinsufficiently evaluated none, f=0.000unknown

(1 web hit)

var-GS18942-1100-36-ASM2
TC2N K151Minsufficiently evaluated not reviewedunknown

(8 web hits)

var-GS20509-1100-36-ASM2
MERTK E540Kinsufficiently evaluated not reviewed, f=0.007unknown

(2 web hits)

var-GS19025-1100-36-ASM2
KIAA1109 S2521Rinsufficiently evaluated none, f=0.011unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 745213722
SLC6A15 A400Vinsufficiently evaluated none, f=0.009unknown

(3 web hits)

var-GS12004-1100-36-ASM2
ZFP90 H114Yinsufficiently evaluated not reviewed, f=0.011unknown

(1 web hit)

CGI sample GS00253-DNA_B01_200_372
SEC31A P841Linsufficiently evaluated not reviewed, f=0.028unknown

(5 web hits)

var-GS19025-1100-36-ASM2
AOC3 A582Tinsufficiently evaluated not reviewed, f=0.009unknown

(4 web hits)

CGI sample GS00253-DNA_B02_200_372
HSD11B2 R147Hinsufficiently evaluated none, f=0.008unknown

(5 web hits)

var-GS18956-1100-36-ASM2
TUBGCP6 A674Vinsufficiently evaluated not reviewed, f=0.003unknown

(1 web hit)

hu3215A7 build 36 substitution variants2
KIAA1683 R1074Cinsufficiently evaluated not reviewed, f=0.012unknown

(1 web hit)

hu3215A7 build 36 substitution variants2
SLC6A5 A89Einsufficiently evaluated benign, f=0.024dominant

Reported causative for hyperekplexia in 2006, but later reports find an allelic frequency of 0.02 in controls and in vitro expression indistinguishable from wildtype.

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 745213722
MUC17 D4334Ninsufficiently evaluated none, f=0.010unknown

(3 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 103663722
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS00253-DNA_D01_200_37 (hom)2
GANC I166Vinsufficiently evaluated not reviewed, f=0.008unknown

(8 web hits)

CGI sample GS0000055322
DPPA4 R3Qinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18956-1100-36-ASM2
LAYN V143Minsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18555-1100-36-ASM2
EID2 E60Ainsufficiently evaluated none, f=0.037unknown

(5 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
KIAA1683 I1329Tinsufficiently evaluated not reviewed, f=0.012unknown

(1 web hit)

hu3215A7 build 36 substitution variants2
GEMIN4 V913Iinsufficiently evaluated not reviewed, f=0.017unknown

(1 web hit)

var-GS18502-1100-36-ASM2
NACA2 V9Finsufficiently evaluated not reviewed, f=0.020unknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_372
MACC1 A151Vinsufficiently evaluated not reviewed, f=0.018unknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_372
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01669-DNA_D02 from PGP sample 273169832
SELP T790Minsufficiently evaluated none, f=0.000unknown

(1 web hit)

var-GS18517-1100-36-ASM2
EID2 E60Ainsufficiently evaluated none, f=0.037unknown

(5 web hits)

CGI sample GS01669-DNA_A04 from PGP sample 081884262
APOH S107Ninsufficiently evaluated not reviewed, f=0.034unknown

(14 web hits)

CGI sample GS00253-DNA_E01_200_372
SH2D3A R157Qinsufficiently evaluated none, f=0.028unknown

(1 web hit)

CGI sample GS01669-DNA_B05 from PGP sample 864862612
HIPK3 S500Ninsufficiently evaluated none, f=0.011unknown

(8 web hits)

var-GS18505-1100-36-ASM2
TC2N K151Minsufficiently evaluated not reviewedunknown

(8 web hits)

CGI sample GS00253-DNA_E01_200_372
HTR1A G273Dinsufficiently evaluated none, f=0.008unknown

(11 web hits)

2
ARHGEF10 V700Iinsufficiently evaluated not reviewed, f=0.031unknown

(10 web hits)

CGI sample GS01175-DNA_D03 from PGP sample 274861992
ABL1 S991Linsufficiently evaluated none, f=0.016unknown

(21 web hits)

2
WDR62 G1375Sinsufficiently evaluated none, f=0.032unknown

(4 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)2
ZNF85 T139Iinsufficiently evaluated none, f=0.004unknown

(1 web hit)

var-GS19129-1100-36-ASM2
TAS2R39 S193Finsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS19025-1100-36-ASM2
C20ORF186 P405Linsufficiently evaluated not reviewed, f=0.040unknown

(1 web hit)

CGI sample GS0000055322
TAS2R39 K197Einsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS19025-1100-36-ASM2
TC2N K151Minsufficiently evaluated not reviewedunknown

(8 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 671805982
C4ORF44 Y178Hinsufficiently evaluated not reviewed, f=0.006unknown

(1 web hit)

var-GS19703-1100-36-ASM2
SPEG R206Hinsufficiently evaluated none, f=0.012unknown

(4 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 694886042
PRELP N348Hinsufficiently evaluated none, f=0.022unknown

(3 web hits)

CGI sample GS01173-DNA_A07 from PGP sample 962400092
SPEG R206Hinsufficiently evaluated none, f=0.012unknown

(4 web hits)

CGI sample GS00253-DNA_A02_200_372
GHRHR M422Tinsufficiently evaluated none, f=0.015unknown

(12 web hits)

CGI sample GS01173-DNA_B07 from PGP sample 614995382
OR2Y1 V154Minsufficiently evaluated none, f=0.018unknown

(4 web hits)

CGI sample GS0000069092
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS00253-DNA_B01_200_37 (hom)2
NUP214 G1592Ainsufficiently evaluated none, f=0.007unknown

(7 web hits)

var-GS18504-1100-36-ASM2
CYP2W1 V432Iinsufficiently evaluated none, f=0.001unknown

(1 web hit)

var-GS18537-1100-36-ASM2
TLL1 I112Tinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS19129-1100-36-ASM2
WDR8 I331Minsufficiently evaluated none, f=0.049unknown

(7 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)2
MAP3K14 S140Ninsufficiently evaluated none, f=0.008unknown

(7 web hits)

CGI sample GS00253-DNA_E01_200_372
GOT1L1 P345Linsufficiently evaluated unknownunknown

(1 web hit)

hu728FFF build 36 substitution variants2
GRK4 A116Tinsufficiently evaluated not reviewed, f=0.030unknown

(7 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 947974692
TPD52 D52Yinsufficiently evaluated none, f=0.018unknown

(1 web hit)

CGI sample GS0000055322
OAS1 L386Finsufficiently evaluated none, f=0.008unknown

(3 web hits)

var-GS19129-1100-36-ASM2
CLTCL1 A105Tinsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

2
AQP8 A212Tinsufficiently evaluated not reviewed, f=0.016unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_372
WDR8 I331Minsufficiently evaluated none, f=0.049unknown

(7 web hits)

CGI sample GS01175-DNA_D05 from PGP sample 12054912
CXORF58 R187Hinsufficiently evaluated none, f=0.021unknown

(1 web hit)

var-GS19129-1100-36-ASM2
UBA7 P712Sinsufficiently evaluated none, f=0.005unknown

(4 web hits)

CGI sample GS00253-DNA_A01_200_372
DLX4 N44Sinsufficiently evaluated none, f=0.050unknown

(1 web hit)

CGI sample GS01175-DNA_A04 from PGP sample 132722282
CARS A241Sinsufficiently evaluated none, f=0.009unknown

(3 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 943785232
HDAC6 R832Hinsufficiently evaluated none, f=0.022unknown

(2 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 103663722
ABP1 R98Hinsufficiently evaluated none, f=0.002unknown

(1 web hit)

var-GS19129-1100-36-ASM2
CYP11B2 V386Ainsufficiently evaluated not reviewed, f=0.063unknown

(146 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 641915652
MUC17 P1249Ainsufficiently evaluated not reviewed, f=0.042unknown

(3 web hits)

CGI sample GS01175-DNA_B01 from PGP sample 862060342
HDAC6 R832Hinsufficiently evaluated none, f=0.022unknown

(2 web hits)

CGI sample GS01175-DNA_B04 from PGP sample 885906712
OR2Y1 V154Minsufficiently evaluated none, f=0.018unknown

(4 web hits)

CGI sample GS01173-DNA_A07 from PGP sample 962400092
TBXAS1 E388Kinsufficiently evaluated none, f=0.000unknown

(25 web hits)

var-GS18555-1100-36-ASM2
CTDP1 I639Vinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18956-1100-36-ASM2
EID2 E60Ainsufficiently evaluated none, f=0.037unknown

(5 web hits)

CGI sample GS01175-DNA_F02 from PGP sample 957881912
C1ORF156 A325Vinsufficiently evaluated none, f=0.010unknown

(5 web hits)

var-GS19129-1100-36-ASM2
TRIM24 N796Sinsufficiently evaluated unknown, f=0.007unknown

(4 web hits)

hu728FFF build 36 substitution variants2
SLC22A25 G448Ainsufficiently evaluated none, f=0.019unknown

(2 web hits)

var-GS19701-1100-36-ASM (hom)2
EMB S39Linsufficiently evaluated not reviewed, f=0.004unknown

(5 web hits)

CGI sample GS00253-DNA_B01_200_372
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS00253-DNA_H01_200_372
CD4 I412Tinsufficiently evaluated not reviewed, f=0.006unknown

(6 web hits)

var-GS19017-1100-36-ASM2
ZAN G113Ainsufficiently evaluated none, f=0.023unknown

(12 web hits)

CGI sample GS00253-DNA_B01_200_37 (hom)2
MYLK R845Cinsufficiently evaluated not reviewed, f=0.007unknown

(9 web hits)

var-GS18505-1100-36-ASM2
MAGEB6 R98Hinsufficiently evaluated not reviewed, f=0.032unknown

(2 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 273169832
ITGAV S548Ainsufficiently evaluated none, f=0.002unknown

(2 web hits)

var-GS18517-1100-36-ASM2
ARHGEF10 V700Iinsufficiently evaluated not reviewed, f=0.031unknown

(10 web hits)

var-GS19834-1100-36-ASM2
SKIV2L R324Winsufficiently evaluated none, f=0.014unknown

(6 web hits)

var-GS19025-1100-36-ASM2
RRBP1 R936Kinsufficiently evaluated none, f=0.009unknown

(2 web hits)

var-GS19129-1100-36-ASM2
SLC30A9 L353Sinsufficiently evaluated none, f=0.008unknown

(4 web hits)

var-GS19129-1100-36-ASM2
PRKDC M333Iinsufficiently evaluated none, f=0.032unknown

(8 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 273169832
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS00253-DNA_G01_200_37 (hom)2
PRKDC M333Iinsufficiently evaluated none, f=0.032unknown

(8 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 925275862
SCRN2 Q330Rinsufficiently evaluated none, f=0.022unknown

(9 web hits)

hu34D5B9 exome2
STON1-GTF2A1L T1043Ainsufficiently evaluated none, f=0.014unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 745213722
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01669-DNA_H05 from PGP sample 109715812
TNS1 I311Minsufficiently evaluated not reviewed, f=0.015unknown

(3 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 943785232
TMEM132C T618Sinsufficiently evaluated none, f=0.014unknown

(3 web hits)

hu34D5B9 exome2
FAM98C A64Tinsufficiently evaluated none, f=0.012unknown

(3 web hits)

var-GS18956-1100-36-ASM2
IREB2 I732Vinsufficiently evaluated not reviewed, f=0.002unknown

(2 web hits)

var-GS18504-1100-36-ASM2
POSTN T339Iinsufficiently evaluated not reviewed, f=0.005unknown

(6 web hits)

var-GS18505-1100-36-ASM2
WDFY4 S944Finsufficiently evaluated not reviewed, f=0.011unknown

(4 web hits)

var-GS19239-1100-36-ASM2
TC2N K151Minsufficiently evaluated not reviewedunknown

(8 web hits)

CGI sample GS01173-DNA_A07 from PGP sample 962400092
MRVI1 P104Sinsufficiently evaluated unknownunknown

(1 web hit)

hu728FFF build 36 substitution variants2
ANKRD6 A545Tinsufficiently evaluated none, f=0.000unknown

(5 web hits)

var-GS18947-1100-36-ASM2
PIGR V346Iinsufficiently evaluated none, f=0.004unknown

(4 web hits)

CGI sample GS00253-DNA_F01_200_372
KCNIP3 R39Hinsufficiently evaluated none, f=0.003unknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_372
C1ORF135 K82Tinsufficiently evaluated none, f=0.044unknown

(2 web hits)

CGI sample GS00253-DNA_A01_200_372
DNMT1 R69Hinsufficiently evaluated not reviewed, f=0.008unknown

(4 web hits)

CGI sample GS01669-DNA_B05 from PGP sample 864862612
C5ORF4 G141Rinsufficiently evaluated none, f=0.000unknown

(2 web hits)

var-GS18526-1100-36-ASM2
STON1-GTF2A1L T1043Ainsufficiently evaluated none, f=0.014unknown

(1 web hit)

var-GS07357-1100-36-ASM2
LDHD R420Sinsufficiently evaluated none, f=0.009unknown

(2 web hits)

var-GS18517-1100-36-ASM2
SIPA1L2 T49Ainsufficiently evaluated not reviewed, f=0.018unknown

(1 web hit)

var-GS21767-1100-36-ASM (hom)2
ZNF263 V534Iinsufficiently evaluated unknown, f=0.006unknown

(4 web hits)

hu728FFF build 36 substitution variants2
FASN V1483Iinsufficiently evaluated none, f=0.038unknown

(34 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)2
TMPO R332Ginsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18555-1100-36-ASM2
CNTF L23Pinsufficiently evaluated none, f=0.002unknown

(1 web hit)

var-GS18517-1100-36-ASM2
PLA2G4C E21Kinsufficiently evaluated none, f=0.005unknown

(2 web hits)

var-GS19129-1100-36-ASM2
PRLHR P305Linsufficiently evaluated none, f=0.032unknown

(4 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 109715812
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 312862722
PIGX P114Linsufficiently evaluated not reviewed, f=0.000unknown

(6 web hits)

var-GS19735-1100-36-ASM2
ZNF860 R627Cinsufficiently evaluated not reviewed, f=0.021unknown

(1 web hit)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)2
SH2D3A R157Qinsufficiently evaluated none, f=0.028unknown

(1 web hit)

CGI sample GS01175-DNA_F02 from PGP sample 957881912
WDR62 G1375Sinsufficiently evaluated none, f=0.032unknown

(4 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 947974692
ANKZF1 R59Sinsufficiently evaluated not reviewed, f=0.006unknown

(2 web hits)

CGI sample GS00253-DNA_C01_200_372
SLC6A5 A89Einsufficiently evaluated benign, f=0.024dominant

Reported causative for hyperekplexia in 2006, but later reports find an allelic frequency of 0.02 in controls and in vitro expression indistinguishable from wildtype.

(1 web hit)

var-GS07357-1100-36-ASM2
FMO5 K166Einsufficiently evaluated not reviewed, f=0.009unknown

(1 web hit)

CGI sample GS00253-DNA_H01_200_372
TRPM5 V335Linsufficiently evaluated none, f=0.084unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_372
PRKDC M333Iinsufficiently evaluated none, f=0.032unknown

(8 web hits)

var-GS12004-1100-36-ASM2
NWD1 R38Winsufficiently evaluated none, f=0.007unknown

(1 web hit)

var-GS19701-1100-36-ASM2
WDR62 G1375Sinsufficiently evaluated none, f=0.032unknown

(4 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 312862722
WDR8 I331Minsufficiently evaluated none, f=0.049unknown

(7 web hits)

var-GS19025-1100-36-ASM2
MLKL D100Einsufficiently evaluated not reviewed, f=0.014unknown

(5 web hits)

var-GS19025-1100-36-ASM2
EPN1 G523Ainsufficiently evaluated none, f=0.018unknown

(2 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 103663722
C4ORF37 K227Einsufficiently evaluated none, f=0.005unknown

(1 web hit)

var-GS19129-1100-36-ASM2
CREB3 R119Ginsufficiently evaluated not reviewed, f=0.004unknown

(3 web hits)

CGI sample GS00253-DNA_A02_200_372
EID2 E60Ainsufficiently evaluated none, f=0.037unknown

(5 web hits)

CGI sample GS01173-DNA_H06 from PGP sample 917084242
EVI2B G53Rinsufficiently evaluated not reviewed, f=0.009unknown

(2 web hits)

var-GS19017-1100-36-ASM2
TNS1 V25Iinsufficiently evaluated not reviewed, f=0.026unknown

(1 web hit)

CGI sample GS00253-DNA_D01_200_372
DLST F251Yinsufficiently evaluated none, f=0.010unknown

(1 web hit)

var-GS19129-1100-36-ASM2
SPATA17 N16Sinsufficiently evaluated none, f=0.034unknown

(1 web hit)

var-GS06994-1100-36-ASM2
TRPM2 N1249Sinsufficiently evaluated none, f=0.003unknown

(2 web hits)

var-GS19129-1100-36-ASM2
PAOX V285Iinsufficiently evaluated none, f=0.018unknown

(4 web hits)

CGI sample GS00253-DNA_F01_200_372
OR2F2 R220Winsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

var-GS18942-1100-36-ASM2
MYOM1 E600Vinsufficiently evaluated not reviewed, f=0.016unknown

(4 web hits)

var-GS18504-1100-36-ASM2
DRD1 S259Yinsufficiently evaluated not reviewed, f=0.002unknown

(1 web hit)

CGI sample GS00253-DNA_H01_200_372
FLG2 E723Kinsufficiently evaluated none, f=0.028unknown

(4 web hits)

var-GS18508-1100-36-ASM2
B4GALT5 G61Sinsufficiently evaluated none, f=0.013unknown

(4 web hits)

var-GS18942-1100-36-ASM2
NIN S1837Tinsufficiently evaluated none, f=0.024unknown

(10 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 103663722
NEK11 E451Kinsufficiently evaluated none, f=0.004unknown

(6 web hits)

CGI sample GS00253-DNA_A01_200_372
ABCA4 R152Qinsufficiently evaluated pathogenic, f=0.003recessive

This variant was found as a double mutant homozygote in a Spanish individual with Stargardt disease.

(18 web hits)

2
C12ORF63 P1107Hinsufficiently evaluated none, f=0.002unknown

(4 web hits)

var-GS18947-1100-36-ASM2
SLC26A9 V744Minsufficiently evaluated none, f=0.001unknown

(1 web hit)

var-GS18956-1100-36-ASM2
CP A406Einsufficiently evaluated not reviewed, f=0.000unknown

(7 web hits)

CGI sample GS00253-DNA_A02_200_372
TMEM132C T618Sinsufficiently evaluated none, f=0.014unknown

(3 web hits)

CGI sample GS00253-DNA_C01_200_372
MEF2D S444Ainsufficiently evaluated none, f=0.008unknown

(8 web hits)

var-GS18956-1100-36-ASM2
ABCC4 T1142Minsufficiently evaluated not reviewed, f=0.006unknown

(12 web hits)

CGI sample GS00253-DNA_B02_200_372
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)2
C5 H473Rinsufficiently evaluated not reviewed, f=0.000unknown

(2 web hits)

CGI sample GS00253-DNA_B02_200_372
ABL2 K915Rinsufficiently evaluated unknown, f=0.011unknown

(9 web hits)

CGI sample GS01175-DNA_D03 from PGP sample 274861992
POLG2 L153Vinsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

CGI sample GS00253-DNA_H01_200_372
ABL2 K915Rinsufficiently evaluated unknown, f=0.011unknown

(9 web hits)

CGI sample GS01173-DNA_A07 from PGP sample 962400092
ZAN G113Ainsufficiently evaluated none, f=0.023unknown

(12 web hits)

CGI sample GS01175-DNA_F02 from PGP sample 957881912
C2CD3 P773Rinsufficiently evaluated none, f=0.010unknown

(6 web hits)

var-GS18956-1100-36-ASM2
DCBLD2 D723Ninsufficiently evaluated none, f=0.002unknown

(4 web hits)

var-GS18956-1100-36-ASM2
SLC6A5 A89Einsufficiently evaluated benign, f=0.024dominant

Reported causative for hyperekplexia in 2006, but later reports find an allelic frequency of 0.02 in controls and in vitro expression indistinguishable from wildtype.

(1 web hit)

CGI sample GS01669-DNA_H05 from PGP sample 109715812
SLC16A4 A185Tinsufficiently evaluated none, f=0.016unknown

(4 web hits)

var-GS18504-1100-36-ASM2
TNFRSF11B V281Minsufficiently evaluated not reviewed, f=0.001unknown

(1 web hit)

CGI sample GS00253-DNA_D01_200_372
BTBD10 T145Ainsufficiently evaluated none, f=0.018unknown

(5 web hits)

var-GS21767-1100-36-ASM2
PRKCE A654Tinsufficiently evaluated none, f=0.012unknown

(2 web hits)

var-GS18504-1100-36-ASM2
FXYD4 C63Yinsufficiently evaluated none, f=0.025unknown

(1 web hit)

var-GS12004-1100-36-ASM2
COL8A2 R155Qinsufficiently evaluated none, f=0.001unknown

(21 web hits)

CGI sample GS01175-DNA_B01 from PGP sample 862060342
CAST E119Ginsufficiently evaluated not reviewed, f=0.008unknown

(27 web hits)

var-GS19025-1100-36-ASM2
EEFSEC A435Vinsufficiently evaluated none, f=0.016unknown

(3 web hits)

var-GS19129-1100-36-ASM2
DHX57 G49Sinsufficiently evaluated unknown, f=0.009unknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)2
F10 G192Rinsufficiently evaluated none, f=0.030unknown

(1 web hit)

var-GS19129-1100-36-ASM2
TAF1B S323Ninsufficiently evaluated not reviewed, f=0.013unknown

(1 web hit)

CGI sample GS00253-DNA_G01_200_372
ZBTB22 G250Ainsufficiently evaluated none, f=0.013unknown

(2 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 312862722
ASXL3 V1652Minsufficiently evaluated none, f=0.022unknown

(5 web hits)

CGI sample GS00253-DNA_B01_200_372
NPHP4 R740Hinsufficiently evaluated none, f=0.024unknown

(2 web hits)

CGI sample GS00253-DNA_A02_200_372
SLC22A1 S14Finsufficiently evaluated not reviewed, f=0.007unknown

(28 web hits)

var-GS19017-1100-36-ASM2
RBM19 V234Minsufficiently evaluated none, f=0.019unknown

(2 web hits)

var-GS19129-1100-36-ASM2
ATP5SL E230Kinsufficiently evaluated none, f=0.017unknown

(4 web hits)

CGI sample GS00253-DNA_C01_200_372
ARHGEF10 V700Iinsufficiently evaluated not reviewed, f=0.031unknown

(10 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 109715812
EPN1 G523Ainsufficiently evaluated none, f=0.018unknown

(2 web hits)

CGI sample GS01173-DNA_A07 from PGP sample 962400092
APOF A178Ginsufficiently evaluated not reviewed, f=0.005unknown

(4 web hits)

var-GS21767-1100-36-ASM2
OR2G3 K229Iinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS19703-1100-36-ASM2
ZNF19 R224Qinsufficiently evaluated none, f=0.024unknown

(7 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 694886042
TNIP3 K99Einsufficiently evaluated unknown, f=0.019unknown

(3 web hits)

hu728FFF build 36 substitution variants2
MADD R117Hinsufficiently evaluated none, f=0.008unknown

(4 web hits)

var-GS18555-1100-36-ASM2
FAM132A V286Iinsufficiently evaluated none, f=0.007unknown

(1 web hit)

var-GS19129-1100-36-ASM2
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)2
CYP26A1 R173Sinsufficiently evaluated none, f=0.014unknown

(8 web hits)

var-GS18517-1100-36-ASM2
ADAMTSL3 M1558Tinsufficiently evaluated none, f=0.017unknown

(8 web hits)

var-GS18504-1100-36-ASM2
DLX4 N44Sinsufficiently evaluated none, f=0.050unknown

(1 web hit)

CGI sample GS01669-DNA_H05 from PGP sample 109715812
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)2
LIG4 I658Vinsufficiently evaluated none, f=0.000unknown

(17 web hits)

var-GS18956-1100-36-ASM2
MAGEB6 R98Hinsufficiently evaluated not reviewed, f=0.032unknown

(2 web hits)

CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)2
CHRDL1 R208Hinsufficiently evaluated none, f=0.012unknown

(1 web hit)

var-GS18555-1100-36-ASM2
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01173-DNA_A07 from PGP sample 962400092
TRIM64 R162Sinsufficiently evaluated not reviewedunknown

(1 web hit)

CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)2
GRSF1 K122Rinsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_372
CD72 V50Linsufficiently evaluated none, f=0.011unknown

(3 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 273169832
OSCAR R229Winsufficiently evaluated none, f=0.006unknown

(2 web hits)

var-GS18517-1100-36-ASM2
ZAN G412Sinsufficiently evaluated none, f=0.011unknown

(3 web hits)

var-GS19129-1100-36-ASM2
RGL1 S217Cinsufficiently evaluated not reviewed, f=0.003unknown

(1 web hit)

CGI sample GS00253-DNA_G01_200_372
CNTN5 R53Xinsufficiently evaluated not reviewed, f=0.232unknown

(2 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 694886042
ABCC3 H68Yinsufficiently evaluated none, f=0.007unknown

(4 web hits)

CGI sample GS01669-DNA_B05 from PGP sample 864862612
PDE7A G50Einsufficiently evaluated none, f=0.047unknown

(13 web hits)

CGI sample GS01669-DNA_B05 from PGP sample 864862612
ZP1 V93Iinsufficiently evaluated not reviewed, f=0.004unknown

(3 web hits)

CGI sample GS00253-DNA_B01_200_372
CFD I248Minsufficiently evaluated none, f=0.000unknown

(6 web hits)

CGI sample GS01173-DNA_H06 from PGP sample 917084242
EPN1 G523Ainsufficiently evaluated none, f=0.018unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_372
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"GENE" or "GENE A123C":

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