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Genes at Omim

ADH1B, AIP, ALK, APC, ATM, BRCA1, BRCA2, BRIP1, BUB1B, CDH1, CDKN1C, CEBPA, CEP57, CYLD, DDB2, DIS3L2, EGFR, EPCAM, ERCC4, ERCC5, EXT1, FANCD2, FANCE, FANCI, GATA2, HNF1A, IL13, MEN1, MET, MLH1, MLPH, MSH6, NF1, NSD1, PMS2, PRF1, PTCH1, RECQL4, RET, RHBDF2, SDHB, SLX4, SMARCB1, TMEM127, TP53, TSC1, WT1, XPC,
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} (3)
{Alcohol dependence, protection against}, 103780 (3)
AIP Pituitary adenoma, ACTH-secreting, 219090 (3)
Pituitary adenoma, growth hormone-secreting, 102200 (3)
Pituitary adenoma, prolactin-secreting, 600634 (3)
ALK {Neuroblastoma, susceptibility to, 3}, 613014 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Hepatoblastoma, somatic, 114550 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
BRCA1 {Breast-ovarian cancer, familial, 1}, 604370 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
BRCA2 Fanconi anemia, complementation group D1, 605724 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
{Breast-ovarian cancer, familial, 2}, 612555 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
BRIP1 Breast cancer, early-onset, 114480 (3)
Fanconi anemia, complementation group J, 609054 (3)
BUB1B Colorectal cancer, somatic, 114500 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
[Premature chromatid separation trait], 176430 (3)
CDH1 Endometrial carcinoma, somatic, 608089 (3)
Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3)
Ovarian carcinoma, somatic, 167000 (3)
{Breast cancer, lobular}, 114480 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
CDKN1C Beckwith-Wiedemann syndrome, 130650 (3)
IMAGE syndrome, 614732 (3)
CEBPA ?Leukemia, acute myeloid, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
CEP57 Mosaic variegated aneuploidy syndrome 2, 614114 (3)
CYLD Brooke-Spiegler syndrome, 605041 (3)
Cylindromatosis, familial, 132700 (3)
Trichoepithelioma, multiple familial, 1, 601606 (3)
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
DIS3L2 Perlman syndrome, 267000 (3)
EGFR ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
EPCAM Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3)
Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
ERCC4 ?XFE progeroid syndrome, 610965 (3)
Fanconi anemia, complementation group Q, 615272 (3)
Xeroderma pigmentosum, group F, 278760 (3)
Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)
ERCC5 Cerebrooculofacioskeletal syndrome 3, 616570 (3)
Xeroderma pigmentosum, group G, 278780 (3)
Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FANCI Fanconi anemia, complementation group I, 609053 (3)
GATA2 Emberger syndrome, 614038 (3)
Immunodeficiency 21, 614172 (3)
{Leukemia, acute myeloid, susceptibility to}, 601626 (3)
{Myelodysplastic syndrome, susceptibility to}, 614286 (3)
HNF1A Diabetes mellitus, insulin-dependent, 20, 612520 (3)
Hepatic adenoma, somatic, 142330 (3)
MODY, type III, 600496 (3)
Renal cell carcinoma, 144700 (3)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
IL13 {Allergic rhinitis, susceptibility to}, 607154 (3)
{Asthma, susceptibility to}, 600807 (3)
MEN1 Adrenal adenoma, somatic (3)
Angiofibroma, somatic (3)
Carcinoid tumor of lung (3)
Lipoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Parathyroid adenoma, somatic (3)
MET ?Deafness, autosomal recessive 97, 616705 (3)
Hepatocellular carcinoma, childhood type, somatic, 114550 (3)
Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
{Osteofibrous dysplasia, susceptibility to}, 607278 (3)
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)
Mismatch repair cancer syndrome, 276300 (3)
Muir-Torre syndrome, 158320 (3)
MLPH Griscelli syndrome, type 3, 609227 (3)
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)
Endometrial cancer, familial, 608089 (3)
Mismatch repair cancer syndrome, 276300 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NSD1 Beckwith-Wiedemann syndrome, 130650 (3)
Leukemia, acute myeloid, 601626 (1)
Sotos syndrome 1, 117550 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PRF1 Aplastic anemia, 609135 (3)
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Lymphoma, non-Hodgkin, 605027 (3)
PTCH1 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Holoprosencephaly 7, 610828 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RET Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
SDHB Cowden syndrome 2, 612359 (3)
Gastrointestinal stromal tumor, 606764 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Paragangliomas 4, 115310 (3)
Pheochromocytoma, 171300 (3)
SLX4 Fanconi anemia, complementation group P, 613951 (3)
SMARCB1 Coffin-Siris syndrome 3, 614608 (3)
Rhabdoid tumors, somatic, 609322 (3)
{Rhabdoid predisposition syndrome 1}, 609322 (3)
{Schwannomatosis-1, susceptibility to}, 162091 (3)
TMEM127 {Pheochromocytoma, susceptibility to}, 171300 (3)
TP53 Adrenal cortical carcinoma, 202300 (3)
Breast cancer, 114480 (3)
Choroid plexus papilloma, 260500 (3)
Colorectal cancer, 114500 (3)
Hepatocellular carcinoma, 114550 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, 607107 (3)
Osteosarcoma, 259500 (3)
Pancreatic cancer, 260350 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Glioma susceptibility 1}, 137800 (3)
TSC1 Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
WT1 Denys-Drash syndrome, 194080 (3)
Frasier syndrome, 136680 (3)
Meacham syndrome, 608978 (3)
Mesothelioma, somatic, 156240 (3)
Nephrotic syndrome, type 4, 256370 (3)
Wilms tumor, type 1, 194070 (3)
XPC Xeroderma pigmentosum, group C, 278720 (3)

Genes at Clinical Genomics Database

AIP, ALK, APC, ATM, BRCA1, BRCA2, BRIP1, BUB1B, CDH1, CDKN1C, CEBPA, CEP57, CYLD, DDB2, DIS3L2, EGFR, EPCAM, ERCC4, ERCC5, EXT1, FANCD2, FANCE, FANCI, FANCL, FANCM, GATA2, HNF1A, MEN1, MET, MLH1, MLPH, MSH6, NF1, NSD1, PMS2, PRF1, PTCH1, RECQL4, RET, RHBDF2, SDHB, SLX4, SMARCB1, TMEM127, TP53, TSC1, WRN, WT1, XPC,
AIP Pituitary adenoma, familial isolated
ALK Neuroblastoma, susceptibility to, 3
APC Desmoid disease, hereditary
Gardner syndrome
Familial adenomatous polyposis
ATM Ataxia-Telangiectasia
Breast cancer, susceptibility to
BRCA1 Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA2 Medulloblastoma
Wilms tumor
Fanconi anemia, complementation group D1
Glioma susceptibility 3
Pancreatic cancer, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to
BRIP1 Fanconi anemia, complementation group J
Breast cancer
BUB1B Premature chromatid separation trait
Mosaic variegated aneuploidy syndrome
CDH1 CDH1-related cancer
CDKN1C Beckwith-Wiedemann syndrome
IMAGE syndrome
CEBPA Acute myeloid leukemia, familial
CEP57 Mosaic variegated aneuploidy syndrome 2
CYLD Cylindromatosis, familial
Trichoepithelioma, multiple familial, 1
Spiegler-Brooke syndrome
DDB2 Xeroderma pigmentosum, group E
DIS3L2 Perlman syndrome
EGFR Inflammatory skin and bowel disease, neonatal, 2
Lung cancer, familial, susceptibilty to
Acute myeloid leukemia, familial
EPCAM Diarrhea 5, with tufting enteropathy, congenital
Colorectal cancer, hereditary nonpolyposis, type 8
ERCC4 Xeroderma pigmentosum, group F
Fanconi anemia, complementation group Q
ERCC5 Xeroderma pigmentosum, group G/Cockayne syndrome
Xeroderma pigmentosum, group G
EXT1 Exostoses, multiple, type 1
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia type L
FANCM Fanconi anemia type M
GATA2 Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia
Acute myeloid leukemia, familial
Myelodysplastic syndrome
Emberger syndrome
Immunodeficiency 21
HNF1A Maturity onset diabetes of the young, type III
Liver adenomatosis
Renal cell carcinoma, nonpapillary clear cell
MEN1 Hyperparathyroidism, familial primary
Multiple endocrine neoplasia type I
MET Deafness, autosomal recessive 97
Renal cell carcinoma, papillary
MLH1 Muir-Torre syndrome
Endometrial cancer
Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
MLPH Griscelli syndrome, type 3
MSH6 Endometrial cancer
Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 5
NF1 Watson syndrome
Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
NSD1 Beckwith-Wiedemann syndrome
Weaver syndrome
Sotos syndrome
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
PRF1 Aplastic anemia, adult-onset
Lymphoma, non-Hodgkin
Hemophagocytic lymphohistiocytosis, familial, 2
PTCH1 Basal cell nevus syndrome
RECQL4 Rothmund-Thomson syndrome
RAPADILINO syndrome
Baller-Gerold syndrome
RET Hirschsprung disease, susceptibility to 1
Pheochromocytoma
Medullary thyroid carcinoma, familial
Multiple endocrine neoplasia IIB
Multiple endocrine neoplasia, type IIA
Central hypoventilation syndrome, congenital
RHBDF2 Tylosis with esophageal cancer
SDHB Paragangliomas 4
Pheochromocytoma
Gastrointestinal stromal tumor
Paraganglioma and gastric stromal sarcoma
Cowden-like syndrome
SLX4 Fanconi anemia type P
SMARCB1 Rhabdoid tumor predisposition syndrome
Schwannomatosis
TMEM127 Pheochromocytoma
TP53 Colorectal cancer
Adrenocortical carcinoma
Non-Hodgkin lymphoma
Hepatoblastoma
Breast cancer, familial
Osteogenic sarcoma
Ependymoma, intracranial
Choroid plexus papilloma
Li-Fraumeni syndrome
TSC1 Lymphangioleiomyomatosis
Tuberous sclerosis
WRN Werner syndrome
WT1 Frasier syndrome
Wilms tumor, type 1
Denys-Drash syndrome
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 305
Number of Genes: 55

Export to: CSV

ADH1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 4 rs1229984
dbSNP
100239319 1328.76 T C PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84145 0.84150 0.03652 0.65 0.00 None None None None None None None

ADH7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 4 rs971074
dbSNP
100341861 1129.93 C T PASS 0/1 110 SYNONYMOUS_CODING LOW SILENT 0.11981 0.11980 0.13755 None None None None None None None

AIP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 11 rs4930199
dbSNP
67258391 4284.3 A G PASS 1/1 159 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99940 0.99940 0.00023 1.00 0.00 None None None None None None None
View pc751_s1 11 rs641081
dbSNP
67257823 3571.13 C A PASS 1/1 147 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84545 0.84540 0.16574 1.00 0.01 None None None None None None None

ALK

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 2 rs2256740
dbSNP
29455267 1730.0 A G PASS 1/1 60 SYNONYMOUS_CODING LOW SILENT 0.50000 0.50000 0.33861 None None None None None None None
View pc751_s1 2 rs1670283
dbSNP
29416572 1773.94 T C PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99221 0.99220 0.00969 0.71 0.00 None None None None None None None
View pc751_s1 2 rs4358080
dbSNP
30143499 2626.07 G C PASS 1/1 86 SYNONYMOUS_CODING LOW SILENT 0.89377 0.89380 0.09071 None None None None None None None
View pc751_s1 2 rs2246745
dbSNP
29940529 2024.66 A T PASS 1/1 83 SYNONYMOUS_CODING LOW SILENT 0.58926 0.58930 0.37298 None None None None None None None
View pc751_s1 2 rs2293564
dbSNP
29543663 409.5 T C PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.77656 0.77660 0.20906 None None None None None None None

APC

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 5 rs459552
dbSNP
112176756 1512.12 T A PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86542 0.86540 0.17374 0.00 None None None None None None None

ATM

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 11 rs4986761
dbSNP
108124761 2108.62 T C PASS 0/1 175 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00439 0.00439 0.00854 0.32 0.00 None None None None None None None
View pc751_s1 11 rs659243
dbSNP
108183167 3788.98 A G PASS 1/1 144 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None

BRCA1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 17 rs16942
dbSNP
41244000 1525.51 T C PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35264 0.35260 0.29525 1.00 0.01 None None None None None None None
View pc751_s1 17 rs1799949
dbSNP
41245466 2144.47 G A PASS 0/1 165 SYNONYMOUS_CODING LOW SILENT 0.33646 0.33650 0.29568 None None None None None None None
View pc751_s1 17 rs16940
dbSNP
41245237 904.32 A G PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.33526 0.33530 0.27764 None None None None None None None
View pc751_s1 17 rs799917
dbSNP
41244936 1676.45 G A PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54393 0.54390 0.49316 1.00 0.00 None None None None None None None
View pc751_s1 17 rs16941
dbSNP
41244435 1422.44 T C PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33566 0.33570 0.27903 0.17 0.45 None None None None None None None
View pc751_s1 17 rs1060915
dbSNP
41234470 1141.83 A G PASS 0/1 114 SYNONYMOUS_CODING LOW SILENT 0.33626 0.33630 0.27956 None None None None None None None
View pc751_s1 17 rs1799966
dbSNP
41223094 1670.14 T C PASS 0/1 151 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35583 0.35580 0.29817 0.12 0.01 None None None None None None None

BRCA2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 13 rs206075
dbSNP
32913055 4119.29 A G PASS 1/1 147 SYNONYMOUS_CODING LOW SILENT 0.97404 0.97400 0.02423 None None None None None None None
View pc751_s1 13 rs543304
dbSNP
32912299 1771.58 T C PASS 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.16813 0.16810 0.19111 None None None None None None None
View pc751_s1 13 rs1801406
dbSNP
32911888 1095.0 A G PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.26677 0.26680 0.27984 None None None None None None None
View pc751_s1 13 rs169547
dbSNP
32929387 1014.37 T C PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97584 0.97580 0.02230 1.00 0.00 None None None None None None None
View pc751_s1 13 rs1799955
dbSNP
32929232 854.65 A G PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT 0.23263 0.23260 0.21136 None None None None None None None
View pc751_s1 13 rs206076
dbSNP
32915005 3483.35 G C PASS 1/1 108 SYNONYMOUS_CODING LOW SILENT 0.00040 0.97360 0.02453 None None None None None None None

BRIP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 17 rs4986765
dbSNP
59763465 938.61 T C PASS 0/1 112 SYNONYMOUS_CODING LOW SILENT 0.81510 0.81510 0.26572 None None None None None None None
View pc751_s1 17 rs4986764
dbSNP
59763347 1895.44 A G PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62780 0.62780 0.38659 0.94 0.00 None None None None None None None
View pc751_s1 17 rs4986763
dbSNP
59760996 2175.89 A G PASS 0/1 205 SYNONYMOUS_CODING LOW SILENT 0.62081 0.62080 0.39396 None None None None None None None

BUB1B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 15 rs1047130
dbSNP
40488851 1613.32 G A PASS 0/1 134 SYNONYMOUS_CODING LOW SILENT 0.19070 0.19070 0.22643 None None None None None None None
View pc751_s1 15 rs1801376
dbSNP
40477831 2437.25 G A PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62820 0.62820 0.26403 1.00 0.00 None None None None None None None

CDH1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 16 rs1801552
dbSNP
68857441 2021.77 T C PASS 1/1 72 SYNONYMOUS_CODING LOW SILENT 0.71865 0.71870 0.28386 None None None None None None None

CDKN1C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 11 rs565544512
dbSNP
2906196 722.41 AC... A PASS 0/1 10 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.13119 0.13120 0.25000 None None None None None None None

CEBPA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 19 . 33792689 5.92 G A LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None

CEP57

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 11 rs644799
dbSNP
95564259 1827.36 A G PASS 0/1 174 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20587 0.20590 0.29482 0.55 0.00 None None None None None None None

CYLD

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 16 rs2066852
dbSNP
50827518 951.86 C T PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.07907 0.07907 0.06304 None None None None None None None

DDB2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 11 rs326212
dbSNP
47238522 3194.64 T C PASS 1/1 129 SYNONYMOUS_CODING LOW SILENT 0.99421 0.99420 0.00469 None None None None None None None

DIS3L2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 2 rs3811578
dbSNP
233201328 244.19 A G PASS 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.20208 0.20210 0.09947 None None None None None None None

EGFR

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 7 rs1050171
dbSNP
55249063 1043.31 G A PASS 0/1 94 SYNONYMOUS_CODING LOW SILENT 0.43271 0.43270 0.45756 None None None None None None None
View pc751_s1 7 rs2227984
dbSNP
55238874 1045.45 T A PASS 0/1 108 SYNONYMOUS_CODING LOW SILENT 0.39038 0.39040 0.32247 None None None None None None None
View pc751_s1 7 rs2227983
dbSNP
55229255 811.05 G A PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29213 0.29210 0.20268 0.44 0.00 None None None None None None None
View pc751_s1 7 rs2072454
dbSNP
55214348 625.1 C T PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.47544 0.47540 0.48485 None None None None None None None
View pc751_s1 7 rs1140475
dbSNP
55266417 2758.95 T C PASS 1/1 103 SYNONYMOUS_CODING LOW SILENT 0.91673 0.91670 0.11095 None None None None None None None

EPCAM

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 2 rs1126497
dbSNP
47601106 363.75 T C PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66613 0.66610 0.43326 1.00 0.00 None None None None None None None

ERCC4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 16 rs2020953
dbSNP
14041916 846.49 A G PASS 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.00579 0.00579 0.00924 None None None None None None None

ERCC5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 13 rs9514067
dbSNP
103527930 4039.84 G C PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00100 0.99720 0.00254 0.75 0.00 None None None None None None None
View pc751_s1 13 rs9514066
dbSNP
103527849 3019.87 G C PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99820 0.99820 0.00254 0.09 0.85 None None None None None None None
View pc751_s1 13 rs1047768
dbSNP
103504517 2773.0 T C PASS 0/1 214 SYNONYMOUS_CODING LOW SILENT 0.49301 0.49300 0.38821 None None None None None None None
View pc751_s1 13 rs17655
dbSNP
103528002 1562.14 G C PASS 0/1 168 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36142 0.36140 0.30578 0.00 0.86 None None None None None None None

EXT1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 8 rs11546829
dbSNP
118847782 513.66 G A PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.17392 0.17390 0.24604 None None None None None None None
View pc751_s1 8 rs7837891
dbSNP
118819578 3204.61 C T PASS 1/1 123 SYNONYMOUS_CODING LOW SILENT 0.33846 0.33850 0.35107 None None None None None None None
View pc751_s1 8 rs17439693
dbSNP
118832020 315.18 G A PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.12021 0.12020 0.16431 None None None None None None None

FANCD2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 3 rs72492998
dbSNP
10088308 591.34 T C PASS 0/1 110 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs72492997
dbSNP
10088266 400.68 G T PASS 0/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs112887807
dbSNP
10088299 590.73 C T PASS 0/1 95 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs73126218
dbSNP
10088343 616.3 A G PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42 0.02 None None None None None None None
View pc751_s1 3 rs764447374
dbSNP
10088404 200.86 C T PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs12330369
dbSNP
10089723 1919.91 G A PASS 0/1 350 SYNONYMOUS_CODING LOW SILENT None None None None None None None

FANCE

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 6 rs4713867
dbSNP
35423662 1582.63 A C PASS 0/1 166 SYNONYMOUS_CODING LOW SILENT 0.77796 0.77800 0.26434 None None None None None None None
View pc751_s1 6 rs3823434
dbSNP
35426175 554.83 C T PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.05831 0.05831 0.01784 None None None None None None None

FANCI

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 15 rs7183618
dbSNP
89838236 705.76 G A PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.98083 0.98080 0.03993 None None None None None None None

FANCL

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 2 rs848291
dbSNP
58388696 2738.19 A G PASS 1/1 108 SYNONYMOUS_CODING LOW SILENT 0.70647 0.70650 0.29591 None None None None None None None

FANCM

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 14 rs1367580
dbSNP
45644589 1994.13 G T PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23223 0.23220 0.19130 1.00 0.00 None None None None None None None
View pc751_s1 14 rs10138997
dbSNP
45606287 1141.98 C T PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20587 0.20590 0.17038 1.00 0.01 None None None None None None None
View pc751_s1 14 rs8018014
dbSNP
45669205 1838.68 T C PASS 0/1 164 SYNONYMOUS_CODING LOW SILENT 0.02816 0.02815 0.03139 None None None None None None None
View pc751_s1 14 rs61746895
dbSNP
45605463 698.06 A G PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01617 0.01617 0.02130 0.54 0.00 None None None None None None None

GATA2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 3 rs1573858
dbSNP
128205860 243.59 G C PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.70986 0.70990 0.30661 None None None None None None None

HELQ

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 4 rs1494961
dbSNP
84374480 574.5 C T PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66454 0.66450 0.40558 1.00 0.00 None None None None None None None

HNF1A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 12 rs55834942
dbSNP
121437114 456.22 G A PASS 0/1 43 SYNONYMOUS_CODING LOW SILENT 0.06290 0.06290 0.14065 None None None None None None None
View pc751_s1 12 rs2259820
dbSNP
121435342 495.81 C T PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.31669 0.31670 0.24639 None None None None None None None
View pc751_s1 12 rs56348580
dbSNP
121432117 840.92 G C PASS 0/1 106 SYNONYMOUS_CODING LOW SILENT 0.18111 0.18110 0.23577 None None None None None None None
View pc751_s1 12 rs1169288
dbSNP
121416650 335.25 A C PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29852 0.29850 0.26250 0.07 0.95 None None None None None None None
View pc751_s1 12 rs1169289
dbSNP
121416622 311.61 C G PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.42851 0.42850 0.41748 None None None None None None None
View pc751_s1 12 rs1169305
dbSNP
121437382 603.01 A G PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98522 0.98520 0.01311 1.00 0.00 None None None None None None None
View pc751_s1 12 rs2464196
dbSNP
121435427 498.91 G A PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31769 0.31770 0.24735 0.22 0.06 None None None None None None None

IL13

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 5 rs20541
dbSNP
131995964 3945.53 A G PASS 1/1 148 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73003 0.73000 0.18730 0.28 0.00 None None None None None None None

MEN1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 11 rs2959656
dbSNP
64572018 4800.15 T C PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83447 0.83450 0.09157 0.76 0.00 None None None None None None None
View pc751_s1 11 rs540012
dbSNP
64572557 2331.17 A G PASS 1/1 89 SYNONYMOUS_CODING LOW SILENT 0.97604 0.97600 0.02385 None None None None None None None

MET

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 7 rs41737
dbSNP
116436097 445.47 G A PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.35463 0.35460 0.32105 None None None None None None None
View pc751_s1 7 rs13223756
dbSNP
116397572 610.99 A G PASS 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.18790 0.18790 0.16871 None None None None None None None
View pc751_s1 7 rs41736
dbSNP
116435768 1109.5 C T PASS 0/1 84 SYNONYMOUS_CODING LOW SILENT 0.35224 0.35220 0.32350 None None None None None None None
View pc751_s1 7 rs2023748
dbSNP
116436022 552.16 G A PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.35383 0.35380 0.32250 None None None None None None None

MLH1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 3 rs63751630
dbSNP
37081683 619.3 G A PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53 0.00 None None None None None None None
View pc751_s1 3 rs1799977
dbSNP
37053568 1092.02 A G PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12959 0.12960 0.24297 0.33 0.11 None None None None None None None

MLPH

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 2 rs2292884
dbSNP
238443226 671.36 A G PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37141 0.37140 0.36076 1.00 0.00 None None None None None None None

MSH6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 2 rs1800935
dbSNP
48023115 1067.08 T C PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.13518 0.13520 0.25065 None None None None None None None
View pc751_s1 2 rs1042820
dbSNP
48010558 84.6 C A SB 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.06909 0.06909 0.11665 None None None None None None None
View pc751_s1 2 rs1800932
dbSNP
48018081 2134.25 A G PASS 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.08666 0.08666 0.16523 None None None None None None None

MYNN

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 3 rs10936599
dbSNP
169492101 944.36 C T PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.27057 0.27060 0.18707 None None None None None None None

NF1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 17 rs371581213
dbSNP
29667627 851.74 G A PASS 0/1 97 SYNONYMOUS_CODING LOW SILENT 0.00015 None None None None None None None
View pc751_s1 17 rs1801052
dbSNP
29508775 2420.2 G A PASS 1/1 86 SYNONYMOUS_CODING LOW SILENT 0.51178 0.51180 0.42560 None None None None None None None

NSD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 5 rs28932181
dbSNP
176639105 826.01 T C PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.10563 0.10560 0.11402 None None None None None None None
View pc751_s1 5 . 176562631 6.39 A T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.20 None None None None None None None
View pc751_s1 5 rs1363405
dbSNP
176636882 1937.62 C T PASS 0/1 179 SYNONYMOUS_CODING LOW SILENT 0.46805 0.46810 0.35414 None None None None None None None
View pc751_s1 5 rs28580074
dbSNP
176721198 6956.4 T C PASS 1/1 246 SYNONYMOUS_CODING LOW SILENT 0.77137 0.77140 0.10103 None None None None None None None

PMS2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 7 rs1805323
dbSNP
6026942 420.38 G T PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11202 0.11200 0.03352 0.92 0.01 None None None None None None None
View pc751_s1 7 rs1805319
dbSNP
6036980 2195.09 G C PASS 0/1 157 SYNONYMOUS_CODING LOW SILENT 0.83127 0.83130 0.17623 None None None None None None None
View pc751_s1 7 rs2228006
dbSNP
6026775 2653.54 T C PASS 0/1 179 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88319 0.88320 0.12962 1.00 0.00 None None None None None None None

PRF1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 10 rs116554195
dbSNP
72360197 647.82 T C PASS 0/1 92 SYNONYMOUS_CODING LOW SILENT 0.01518 0.01518 0.01584 None None None None None None None
View pc751_s1 10 rs885822
dbSNP
72358577 6537.81 G A PASS 1/1 255 SYNONYMOUS_CODING LOW SILENT 0.69589 0.69590 0.33761 None None None None None None None
View pc751_s1 10 rs28933375
dbSNP
72358722 2273.13 T C PASS 0/1 183 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00759 0.00759 0.00846 0.03 0.01 None None None None None None None