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Genes at Omim

ADH1B, AIP, ALK, APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDKN1C, CEP57, CHEK2, EGFR, ERCC2, ERCC4, ERCC5, EZH2, FANCA, FANCB, FANCD2, FANCM, HNF1A, MEN1, MSH6, MUTYH, NBN, PALB2, PMS2, PRF1, PTCH1, RAD51D, RB1, RECQL4, RET, RHBDF2, SLX4, TP53, TSC1, TSC2, XPC,
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
AIP Pituitary adenoma 1, multiple types, 102200 (3)
Pituitary adenoma predisposition, 102200 (3)
ALK {Neuroblastoma, susceptibility to, 3}, 613014 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Hepatoblastoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (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)
BMPR1A Juvenile polyposis syndrome, infantile form, 174900 (3)
Polyposis syndrome, hereditary mixed, 2, 610069 (3)
Polyposis, juvenile intestinal, 174900 (3)
BRCA1 Fanconi anemia, complementation group S, 617883 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (3)
BRCA2 Fanconi anemia, complementation group D1, 605724 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
{Breast-ovarian cancer, familial, 2}, 612555 (3)
BRIP1 Fanconi anemia, complementation group J, 609054 (3)
{Breast cancer, early-onset, susceptibility to}, 114480 (3)
BUB1B Colorectal cancer, somatic, 114500 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
[Premature chromatid separation trait], 176430 (3)
CDKN1C Beckwith-Wiedemann syndrome, 130650 (3)
IMAGE syndrome, 614732 (3)
CEP57 Mosaic variegated aneuploidy syndrome 2, 614114 (3)
CHEK2 Li-Fraumeni syndrome, 609265 (3)
{Prostate cancer, familial, susceptibility to}, 176807 (3)
Osteosarcoma, somatic, 259500 (3)
{Breast and colorectal cancer, susceptibility to} (3)
{Breast cancer, susceptibility to}, 114480 (3)
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
ERCC2 ?Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
ERCC4 Fanconi anemia, complementation group Q, 615272 (3)
?XFE progeroid syndrome, 610965 (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)
EZH2 Weaver syndrome, 277590 (3)
FANCA Fanconi anemia, complementation group A, 227650 (3)
FANCB Fanconi anemia, complementation group B, 300514 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
FANCM ?Premature ovarian failure 15, 618096 (3)
Spermatogenic failure 28, 618086 (3)
HNF1A Hepatic adenoma, somatic, 142330 (3)
Diabetes mellitus, insulin-dependent, 20, 612520 (3)
MODY, type III, 600496 (3)
Renal cell carcinoma, 144700 (3)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (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)
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)
Mismatch repair cancer syndrome, 276300 (3)
{Endometrial cancer, familial}, 608089 (3)
MUTYH Adenomas, multiple colorectal, 608456 (3)
Gastric cancer, somatic, 613659 (3)
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)
NBN Aplastic anemia, 609135 (3)
Leukemia, acute lymphoblastic, 613065 (3)
Nijmegen breakage syndrome, 251260 (3)
PALB2 Fanconi anemia, complementation group N, 610832 (3)
{Pancreatic cancer, susceptibility to, 3}, 613348 (3)
{Breast cancer, susceptibility to}, 114480 (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)
RAD51D {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)
RB1 Bladder cancer, somatic, 109800 (3)
Osteosarcoma, somatic, 259500 (3)
Retinoblastoma, 180200 (3)
Retinoblastoma, trilateral, 180200 (3)
Small cell cancer of the lung, somatic, 182280 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RET {Hirschsprung disease, protection against}, 142623 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
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)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
SLX4 Fanconi anemia, complementation group P, 613951 (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Osteosarcoma}, 259500 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Choroid plexus papilloma}, 260500 (3)
{Colorectal cancer}, 114500 (3)
TSC1 Focal cortical dysplasia, type II, somatic, 607341 (3)
Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
TSC2 Lymphangioleiomyomatosis, somatic, 606690 (3)
?Focal cortical dysplasia, type II, somatic, 607341 (3)
Tuberous sclerosis-2, 613254 (3)
XPC Xeroderma pigmentosum, group C, 278720 (3)

Genes at Clinical Genomics Database

AIP, ALK, APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDKN1C, CEP57, CHEK2, EGFR, ERCC2, ERCC4, ERCC5, EZH2, FANCA, FANCB, FANCD2, FANCM, HNF1A, MEN1, MSH6, MUTYH, NBN, PALB2, PMS2, PRF1, PTCH1, RAD51D, RB1, RECQL4, RET, RHBDF2, SLX4, TP53, TSC1, TSC2, WRN, XPC,
AIP Pituitary adenoma, familial isolated
ALK Neuroblastoma, susceptibility to, 3
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
BMPR1A Polyposis syndrome, hereditary mixed, 2
Polyposis, juvenile intestinal
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
BRCA2 Breast-ovarian cancer, familial, susceptibility to
Pancreatic cancer, susceptibility to, 2
Glioma susceptibility 3
Fanconi anemia, complementation group D1
Wilms tumor
Medulloblastoma
BRIP1 Breast cancer
Fanconi anemia, complementation group J
BUB1B Mosaic variegated aneuploidy syndrome
Premature chromatid separation trait
CDKN1C IMAGE syndrome
Beckwith-Wiedemann syndrome
CEP57 Mosaic variegated aneuploidy syndrome 2
CHEK2 Li-Fraumeni syndrome 2
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
ERCC2 Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
ERCC4 Fanconi anemia, complementation group Q
Xeroderma pigmentosum, group F
ERCC5 Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G/Cockayne syndrome
EZH2 Weaver syndrome
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia,complementation group B
FANCD2 Fanconi anemia, complementation group D2
FANCM Fanconi anemia type M
HNF1A Renal cell carcinoma, nonpapillary clear cell
Liver adenomatosis
Maturity onset diabetes of the young, type III
MEN1 Multiple endocrine neoplasia type I
Hyperparathyroidism, familial primary
MSH6 Colorectal cancer, hereditary nonpolyposis type 5
Mismatch repair cancer syndrome
Endometrial cancer
MUTYH Familial adenomatous polyposis, 2
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
NBN Breast cancer, susceptibility to
Nijmegen breakage syndrome
PALB2 Breast cancer
Pancreatic cancer, susceptibility to 3
Fanconi anemia, complementation group N
PMS2 Colorectal cancer, hereditary nonpolyposis type 4
Mismatch repair cancer syndrome
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2
Lymphoma, non-Hodgkin
Aplastic anemia, adult-onset
PTCH1 Basal cell nevus syndrome
RAD51D Ovarian cancer, familial, susceptibility to
RB1 Retinoblastoma
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
RHBDF2 Tylosis with esophageal cancer
SLX4 Fanconi anemia type P
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
TSC1 Tuberous sclerosis
Lymphangioleiomyomatosis
TSC2 Tuberous sclerosis 2
Lymphangioleiomyomatosis
WRN Werner syndrome
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 93
Number of Genes: 44

Export to: CSV
  • Page 1 of 1

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 larissa_s11 4 rs1229984
dbSNP Clinvar
100239319 100.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.84145 0.84150 0.03652 0.65 0.00 None None None None None None ADH1B|0.074839204|56.32%

AIP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 11 rs641081
dbSNP Clinvar
67257823 100.0 C A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.84545 0.84540 0.16574 1.00 0.01 None None None None None None AIP|0.191995289|37.6%
View larissa_s11 11 rs4930199
dbSNP Clinvar
67258391 100.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.99940 0.99940 0.00023 1.00 0.00 None None None None None None AIP|0.191995289|37.6%

ALK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 2 rs1881421
dbSNP Clinvar
29416366 100.0 G C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.57288 0.57290 0.43349 1.00 0.00 None None None None None None ALK|0.859785808|4.47%
View larissa_s11 2 rs1670283
dbSNP Clinvar
29416572 100.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.99221 0.99220 0.00969 0.71 0.00 None None None None None None ALK|0.859785808|4.47%

APC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 5 rs459552
dbSNP Clinvar
112176756 100.0 T A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.86542 0.86540 0.17374 0.00 None None None None None None APC|0.952088564|2.19%

ATM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 11 rs659243
dbSNP Clinvar
108183167 100.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ATM|0.992666029|0.97%,C11orf65|0.02654042|71.1%

BMPR1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 10 rs11528010
dbSNP Clinvar
88635779 100.0 C A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.49980 0.49980 0.38951 1.00 0.00 None None None None None None BMPR1A|0.266176156|30.17%

BRCA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 17 rs16941
dbSNP Clinvar
41244435 100.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.33566 0.33570 0.27903 0.17 0.45 None None None None None None BRCA1|0.986984945|1.2%
View larissa_s11 17 rs1799966
dbSNP Clinvar
41223094 100.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.35583 0.35580 0.29817 0.12 0.01 None None None None None None BRCA1|0.986984945|1.2%
View larissa_s11 17 rs16942
dbSNP Clinvar
41244000 100.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.35264 0.35260 0.29525 1.00 0.01 None None None None None None BRCA1|0.986984945|1.2%
View larissa_s11 17 rs4986850
dbSNP Clinvar
41245471 100.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.03355 0.03355 0.05429 0.01 0.01 None None None None None None BRCA1|0.986984945|1.2%
View larissa_s11 17 rs799917
dbSNP Clinvar
41244936 100.0 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.54393 0.54390 0.49316 1.00 0.00 None None None None None None BRCA1|0.986984945|1.2%

BRCA2

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 larissa_s11 13 rs144848
dbSNP Clinvar
32906729 100.0 A C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.24940 0.24940 0.23321 0.06 0.02 None None None None None None BRCA2|0.561492787|13.3%
View larissa_s11 13 rs169547
dbSNP Clinvar
32929387 100.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.97584 0.97580 0.02230 1.00 0.00 None None None None None None BRCA2|0.561492787|13.3%

BRIP1

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 larissa_s11 17 rs4986764
dbSNP Clinvar
59763347 100.0 A G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.62780 0.62780 0.38659 0.94 0.00 None None None None None None BRIP1|0.463785702|17.47%

BUB1B

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 larissa_s11 15 rs751509832
dbSNP Clinvar
40509810 100.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.11 None None None None None None BUB1B|0.539848425|14.21%,PAK6|0.183662894|38.57%
View larissa_s11 15 rs1801376
dbSNP Clinvar
40477831 100.0 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.62820 0.62820 0.26403 1.00 0.00 None None None None None None BUB1B|0.539848425|14.21%

CDKN1C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 11 . 2906130 44.0 G A SB;LowDP 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.00 None None None None None None CDKN1C|0.344780889|24.52%
View larissa_s11 11 . 2906127 46.0 G A SB;LowDP 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.00 None None None None None None CDKN1C|0.344780889|24.52%
View larissa_s11 11 . 2906208 25.0 G A SB;LowGQ 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.00 None None None None None None CDKN1C|0.344780889|24.52%
View larissa_s11 11 . 2906206 24.0 GA G SB;LowGQ 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.00 None None None None None None CDKN1C|0.344780889|24.52%
View larissa_s11 11 . 2906206 24.0 G C SB;LowGQ 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.00 None None None None None None CDKN1C|0.344780889|24.52%
View larissa_s11 11 . 2906409 81.0 A T SB 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.49 None None None None None None CDKN1C|0.344780889|24.52%
View larissa_s11 11 . 2906416 100.0 G C SB 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.64 None None None None None None CDKN1C|0.344780889|24.52%
View larissa_s11 11 rs774805080
dbSNP Clinvar
2906415 69.0 A T SB 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.90 None None None None None None CDKN1C|0.344780889|24.52%
View larissa_s11 11 . 2906134 30.0 C G SB;LowDP 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.00 None None None None None None CDKN1C|0.344780889|24.52%
View larissa_s11 11 . 2906143 27.0 C G SB;LowGQ 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.22 0.00 None None None None None None CDKN1C|0.344780889|24.52%

CEP57

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 larissa_s11 11 rs644799
dbSNP Clinvar
95564259 100.0 A G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.20587 0.20590 0.29482 0.55 0.00 None None None None None None CEP57|0.277421264|29.31%

CHEK2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 22 rs74751600
dbSNP Clinvar
29091840 100.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.97 None None None None None None None

EGFR

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 larissa_s11 7 . 55269013 37.0 C A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.08 1.00 None None None None None None EGFR|0.999639222|0.3%

ERCC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 19 . 45854951 24.0 C A LowGQ 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.07 None None None None None None ERCC2|0.489607884|16.33%
View larissa_s11 19 rs13181
dbSNP Clinvar
45854919 100.0 T G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.23662 0.23660 0.32600 0.37 0.00 None None None None None None ERCC2|0.489607884|16.33%
View larissa_s11 19 rs1799793
dbSNP Clinvar
45867259 100.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.19449 0.19450 0.24385 0.13 0.18 None None None None None None ERCC2|0.489607884|16.33%

ERCC4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 16 rs1800067
dbSNP Clinvar
14029033 100.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02855 0.02855 0.05480 0.01 0.98 None None None None None None ERCC4|0.251241672|31.43%

ERCC5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 13 rs9514066
dbSNP Clinvar
103527849 100.0 G C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.99820 0.99820 0.00254 0.09 0.85 None None None None None None ERCC5|0.093186458|52.57%
View larissa_s11 13 rs9514067
dbSNP Clinvar
103527930 100.0 G C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.99720 0.00254 0.75 0.00 None None None None None None ERCC5|0.093186458|52.57%

EZH2

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 larissa_s11 7 rs2302427
dbSNP Clinvar
148525904 100.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.07987 0.07987 0.06036 0.01 0.34 None None None None None None EZH2|0.916729206|3.07%

FANCA

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 larissa_s11 16 rs9282681
dbSNP Clinvar
89805914 100.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.07228 0.07228 0.05132 0.14 0.22 None None None None None None ZNF276|0.058345377|60.32%,FANCA|0.007695026|82.85%
View larissa_s11 16 rs11646374
dbSNP Clinvar
89857935 100.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.07049 0.07049 0.05956 0.01 0.50 None None None None None None FANCA|0.007695026|82.85%
View larissa_s11 16 rs7195066
dbSNP Clinvar
89836323 100.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.66673 0.66670 0.43067 0.31 0.00 None None None None None None FANCA|0.007695026|82.85%
View larissa_s11 16 rs7190823
dbSNP Clinvar
89866043 100.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.69050 0.69050 0.49400 1.00 0.00 None None None None None None FANCA|0.007695026|82.85%
View larissa_s11 16 rs17232910
dbSNP Clinvar
89839766 100.0 G C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.07408 0.07408 0.04766 0.15 0.00 None None None None None None FANCA|0.007695026|82.85%
View larissa_s11 16 rs17233497
dbSNP Clinvar
89815152 100.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02336 0.02336 0.05925 0.00 0.49 None None None None None None FANCA|0.007695026|82.85%
View larissa_s11 16 rs2239359
dbSNP Clinvar
89849480 100.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.62400 0.62400 0.48230 1.00 0.00 None None None None None None FANCA|0.007695026|82.85%

FANCB

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 larissa_s11 X rs41309679
dbSNP Clinvar
14877404 100.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.03656 0.03656 0.05900 0.00 1.00 None None None None None None None

FANCD2

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 larissa_s11 3 rs73126218
dbSNP Clinvar
10088343 100.0 A G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.42 0.02 None None None None None None None

FANCM

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 larissa_s11 14 . 45618129 100.0 A C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.05 None None None None None None None

HELQ

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 larissa_s11 4 rs1494961
dbSNP Clinvar
84374480 100.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.66454 0.66450 0.40558 1.00 0.00 None None None None None None HELQ|0.057496382|60.56%

HNF1A

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 larissa_s11 12 rs1169288
dbSNP Clinvar
121416650 100.0 A C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.29852 0.29850 0.26250 0.07 0.95 None None None None None None HNF1A|0.210728001|35.48%
View larissa_s11 12 rs1169305
dbSNP Clinvar
121437382 100.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.98522 0.98520 0.01311 1.00 0.00 None None None None None None HNF1A|0.210728001|35.48%

MEN1

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 larissa_s11 11 rs2959656
dbSNP Clinvar
64572018 100.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.83447 0.83450 0.09157 0.76 0.00 None None None None None None MEN1|0.661753232|9.63%

MSH6

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 larissa_s11 2 rs1042821
dbSNP Clinvar
48010488 100.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.20088 0.20090 0.17965 1.00 0.03 None None None None None None MSH6|0.783268365|6.24%

MUTYH

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 larissa_s11 1 rs3219489
dbSNP Clinvar
45797505 100.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.31350 0.31350 0.25412 0.08 0.09 None None None None None None MUTYH|0.140492603|44.32%

NBN

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 larissa_s11 8 rs587780091
dbSNP Clinvar
90958439 100.0 A G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None NBN|0.433060118|19.03%

PALB2

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 larissa_s11 16 rs45624036
dbSNP Clinvar
23635370 100.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00431 0.00 1.00 None None None None None None PALB2|0.063788153|58.94%
View larissa_s11 16 rs45551636
dbSNP Clinvar
23634293 100.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00859 0.00859 0.01785 0.00 0.99 None None None None None None PALB2|0.063788153|58.94%
View larissa_s11 16 rs45532440
dbSNP Clinvar
23641461 100.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01438 0.01438 0.02324 0.10 0.21 None None None None None None PALB2|0.063788153|58.94%
View larissa_s11 16 rs152451
dbSNP Clinvar
23646191 100.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.15076 0.15080 0.13483 0.94 0.00 None None None None None None PALB2|0.063788153|58.94%

PMS2

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 larissa_s11 7 rs1805321
dbSNP Clinvar
6026988 100.0 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.35823 0.35820 0.37383 0.43 0.00 None None None None None None None
View larissa_s11 7 rs2228006
dbSNP Clinvar
6026775 100.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.88319 0.88320 0.12962 1.00 0.00 None None None None None None None

PRF1

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 larissa_s11 10 rs28933375
dbSNP Clinvar
72358722 100.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00759 0.00759 0.00846 0.03 0.01 None None None None None None PRF1|0.005055702|85.74%

PTCH1

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 larissa_s11 9 rs2236405
dbSNP Clinvar
98211572 100.0 T A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.07847 0.07847 0.04173 0.15 0.15 None None None None None None PTCH1|0.998599634|0.48%
View larissa_s11 9 . 98220401 30.0 T G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None PTCH1|0.998599634|0.48%

RAD51D

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 larissa_s11 17 rs4796033
dbSNP Clinvar
33433487 100.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.09505 0.09505 0.10680 1.00 0.00 None None None None None None RAD51D|0.062622742|59.17%

RB1

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 larissa_s11 13 rs770488256
dbSNP Clinvar
48878125 60.0 C T SB 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.51 0.00 None None None None None None RB1|0.998226541|0.53%
View larissa_s11 13 . 48878112 41.0 G C SB 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.00 None None None None None None RB1|0.998226541|0.53%

RECQL4

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 larissa_s11 8 rs4244612
dbSNP Clinvar
145741702 100.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.44768 0.44770 0.39187 0.43 0.01 None None None None None None RECQL4|0.005456729|85.27%
View larissa_s11 8 . 145743143 53.0 T C SB 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.01 None None None None None None RECQL4|0.005456729|85.27%
View larissa_s11 8 rs2721190
dbSNP Clinvar
145742514 100.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.94329 0.94330 0.00483 1.00 0.00 None None None None None None RECQL4|0.005456729|85.27%
View larissa_s11 8 . 145743158 49.0 A C SB 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.99 None None None None None None RECQL4|0.005456729|85.27%
View larissa_s11 8 . 145738765 100.0 C A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.36 None None None None None None RECQL4|0.005456729|85.27%
View larissa_s11 8 . 145738764 56.0 A C SB 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.94 None None None None None None RECQL4|0.005456729|85.27%
View larissa_s11 8 rs4251691
dbSNP Clinvar
145737816 100.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.38439 0.38440 0.34191 0.20 0.01 None None None None None None RECQL4|0.005456729|85.27%
View larissa_s11 8 . 145743152 66.0 T C SB 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.23 None None None None None None RECQL4|0.005456729|85.27%

RET

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 larissa_s11 10 rs1799939
dbSNP Clinvar
43610119 100.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.16913 0.16910 0.15700 0.74 0.02 None None None None None None RET|0.976360102|1.58%

RHBDF2

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 larissa_s11 17 rs3744045
dbSNP Clinvar
74475024 100.0 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.76518 0.76520 0.20475 0.02 0.27 None None None None None None RHBDF2|0.101758114|50.82%
View larissa_s11 17 rs3809694
dbSNP Clinvar
74475975 100.0 C A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.45627 0.45630 0.40409 0.67 0.00 None None None None None None RHBDF2|0.101758114|50.82%

SLX4

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 larissa_s11 16 rs74319927
dbSNP Clinvar
3647692 100.0 A C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.05491 0.05491 0.06507 1.00 0.00 None None None None None None SLX4|0.005065582|85.73%
View larissa_s11 16 rs113490934
dbSNP Clinvar
3650987 100.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.05451 0.05451 0.06511 0.39 0.00 None None None None None None SLX4|0.005065582|85.73%
View larissa_s11 16 rs79842542
dbSNP Clinvar
3656625 100.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.05970 0.05970 0.07126 0.00 0.10 None None None None None None SLX4|0.005065582|85.73%
View larissa_s11 16 rs59939128
dbSNP Clinvar
3640785 100.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06709 0.06709 0.07988 0.28 0.18 None None None None None None SLX4|0.005065582|85.73%
View larissa_s11 16 rs3827530
dbSNP Clinvar
3639977 100.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.04113 0.04113 0.04925 0.29 0.01 None None None None None None SLX4|0.005065582|85.73%
View larissa_s11 16 rs714181
dbSNP Clinvar
3640274 100.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.23962 0.23960 0.21164 0.31 0.01 None None None None None None SLX4|0.005065582|85.73%
View larissa_s11 16 . 3640523 32.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.06 None None None None None None SLX4|0.005065582|85.73%
View larissa_s11 16 rs78637028
dbSNP Clinvar
3640784 100.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.04113 0.04113 0.04771 0.08 0.11 None None None None None None SLX4|0.005065582|85.73%

TP53

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 larissa_s11 17 rs1042522
dbSNP Clinvar
7579472 100.0 G C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.54293 0.54290 0.36996 0.57 0.14 None None None None None None None

TSC1

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 larissa_s11 9 rs1073123
dbSNP Clinvar
135786904 100.0 A G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.13518 0.13520 0.16546 0.48 0.00 None None None None None None TSC1|0.596037841|11.9%

TSC2

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 larissa_s11 16 rs373818076
dbSNP Clinvar
2107145 25.0 G A LowGQ 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00008 0.11 0.99 None None None None None None None

ULK4

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 larissa_s11 3 rs1052501
dbSNP Clinvar
41925398 100.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.68850 0.68850 0.31690 1.00 0.00 None None None None None None ULK4|0.102483555|50.69%

WRN

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 larissa_s11 8 rs78488552
dbSNP Clinvar
31012237 100.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00346 0.00 0.99 None None None None None None WRN|0.464572079|17.41%

XPC

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 larissa_s11 3 rs2228000
dbSNP Clinvar
14199887 100.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.23303 0.23300 0.20058 0.16 0.01 None None None None None None XPC|0.047964422|63.33%
View larissa_s11 3 rs2228001
dbSNP Clinvar
14187449 100.0 G T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.68470 0.68470 0.35794 1.00 0.00 None None None None None None XPC|0.047964422|63.33%
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