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Genes at Omim

ALK, APC, BRCA1, BRCA2, BRIP1, BUB1B, CDKN1C, CHEK2, CHRNA3, DDB2, DIS3L2, EGFR, ERCC2, ERCC4, EXT1, FANCA, FANCD2, FANCE, FANCI, FANCM, GATA2, HNF1A, MEN1, MSH6, NBN, NF1, NSD1, PALB2, PHOX2B, PMS2, PRF1, RB1, RECQL4, RET, RHBDF2, SBDS, SDHB, SLX4, TSC2, WT1, XPC,
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)
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)
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)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
DIS3L2 Perlman syndrome, 267000 (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)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
FANCA Fanconi anemia, complementation group A, 227650 (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)
FANCM ?Premature ovarian failure 15, 618096 (3)
Spermatogenic failure 28, 618086 (3)
GATA2 {Leukemia, acute myeloid, susceptibility to}, 601626 (3)
{Myelodysplastic syndrome, susceptibility to}, 614286 (3)
Immunodeficiency 21, 614172 (3)
Emberger syndrome, 614038 (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)
NBN Aplastic anemia, 609135 (3)
Leukemia, acute lymphoblastic, 613065 (3)
Nijmegen breakage syndrome, 251260 (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 Leukemia, acute myeloid, 601626 (1)
Sotos syndrome 1, 117550 (3)
PALB2 Fanconi anemia, complementation group N, 610832 (3)
{Pancreatic cancer, susceptibility to, 3}, 613348 (3)
{Breast cancer, susceptibility to}, 114480 (3)
PHOX2B Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)
{Neuroblastoma, susceptibility to, 2}, 613013 (3)
Neuroblastoma with Hirschsprung disease, 613013 (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)
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)
SBDS Shwachman-Diamond syndrome, 260400 (3)
{Aplastic anemia, susceptibility to}, 609135 (3)
SDHB 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)
TSC2 Lymphangioleiomyomatosis, somatic, 606690 (3)
?Focal cortical dysplasia, type II, somatic, 607341 (3)
Tuberous sclerosis-2, 613254 (3)
WT1 Frasier syndrome, 136680 (3)
Denys-Drash syndrome, 194080 (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

ALK, APC, BRCA1, BRCA2, BRIP1, BUB1B, CDKN1C, CHEK2, DDB2, DIS3L2, EGFR, ERCC2, ERCC4, EXT1, FANCA, FANCD2, FANCE, FANCI, FANCL, FANCM, GATA2, HNF1A, MEN1, MSH6, NBN, NF1, NSD1, PALB2, PHOX2B, PMS2, PRF1, RB1, RECQL4, RET, RHBDF2, SBDS, SDHB, SLX4, TSC2, WRN, WT1, XPC,
ALK Neuroblastoma, susceptibility to, 3
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
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
CHEK2 Li-Fraumeni syndrome 2
DDB2 Xeroderma pigmentosum, group E
DIS3L2 Perlman syndrome
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
EXT1 Exostoses, multiple, type 1
FANCA Fanconi anemia, complementation group A
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 Immunodeficiency 21
Emberger syndrome
Myelodysplastic syndrome
Acute myeloid leukemia, familial
Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia
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
NBN Breast cancer, susceptibility to
Nijmegen breakage syndrome
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NSD1 Sotos syndrome
Weaver syndrome
Beckwith-Wiedemann syndrome
PALB2 Breast cancer
Pancreatic cancer, susceptibility to 3
Fanconi anemia, complementation group N
PHOX2B Central hypoventilation syndrome, congenital
Neuroblastoma with Hirschsprung disease
Neuroblastoma, susceptiblity to, 2
PMS2 Colorectal cancer, hereditary nonpolyposis type 4
Mismatch repair cancer syndrome
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2
Lymphoma, non-Hodgkin
Aplastic anemia, adult-onset
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
SBDS Shwachman-Diamond syndrome
Aplastic anemia
SDHB Cowden-like syndrome
Paraganglioma and gastric stromal sarcoma
Gastrointestinal stromal tumor
Pheochromocytoma
Paragangliomas 4
SLX4 Fanconi anemia type P
TSC2 Tuberous sclerosis 2
Lymphangioleiomyomatosis
WRN Werner syndrome
WT1 Denys-Drash syndrome
Wilms tumor, type 1
Frasier syndrome
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 90
Number of Genes: 45

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  • Page 1 of 1

ALK

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 rs2293564
dbSNP Clinvar
29543663 100.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.77656 0.77660 0.20906 None None None None None None ALK|0.859785808|4.47%
View larissa_s11 2 rs2256740
dbSNP Clinvar
29455267 100.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.50000 0.50000 0.33861 None None None None None None ALK|0.859785808|4.47%
View larissa_s11 2 rs4358080
dbSNP Clinvar
30143499 100.0 G C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.89377 0.89380 0.09071 None None None None None None ALK|0.859785808|4.47%
View larissa_s11 2 rs2246745
dbSNP Clinvar
29940529 100.0 A T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.58926 0.58930 0.37298 None None None None None None ALK|0.859785808|4.47%
View larissa_s11 2 rs56132472
dbSNP Clinvar
29416615 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.05911 0.05911 0.10326 None None None None None None ALK|0.859785808|4.47%
View larissa_s11 2 rs2293563
dbSNP Clinvar
29449819 100.0 C T PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.16993 0.16990 0.18961 None None None None None None ALK|0.859785808|4.47%

APC

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 5 rs866006
dbSNP Clinvar
112176559 100.0 T G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.66693 0.66690 0.41201 None None None None None None APC|0.952088564|2.19%
View larissa_s11 5 rs351771
dbSNP Clinvar
112164561 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.66613 0.66610 0.41357 None None None None None None APC|0.952088564|2.19%
View larissa_s11 5 rs465899
dbSNP Clinvar
112177171 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.66653 0.66650 0.41309 None None None None None None APC|0.952088564|2.19%
View larissa_s11 5 rs42427
dbSNP Clinvar
112176325 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.66673 0.66670 0.40987 None None None None None None APC|0.952088564|2.19%

BABAM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 19 rs8170
dbSNP Clinvar
17389704 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.11242 0.11240 0.18065 None None None None None None None

BRCA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 17 rs1799949
dbSNP Clinvar
41245466 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.33646 0.33650 0.29568 None None None None None None BRCA1|0.986984945|1.2%
View larissa_s11 17 rs1060915
dbSNP Clinvar
41234470 100.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.33626 0.33630 0.27956 None None None None None None BRCA1|0.986984945|1.2%
View larissa_s11 17 rs16940
dbSNP Clinvar
41245237 100.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.33526 0.33530 0.27764 None None None None None None BRCA1|0.986984945|1.2%

BRCA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 13 rs206076
dbSNP Clinvar
32915005 100.0 G C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.00040 0.97360 0.02453 None None None None None None BRCA2|0.561492787|13.3%
View larissa_s11 13 rs206075
dbSNP Clinvar
32913055 100.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.97404 0.97400 0.02423 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 rs4986765
dbSNP Clinvar
59763465 100.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.81510 0.81510 0.26572 None None None None None None BRIP1|0.463785702|17.47%
View larissa_s11 17 rs4986763
dbSNP Clinvar
59760996 100.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.62081 0.62080 0.39396 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 rs1047130
dbSNP Clinvar
40488851 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.19070 0.19070 0.22643 None None None None None None BUB1B|0.539848425|14.21%

CDKN1C

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 . 2906207 39.0 A G SB 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None CDKN1C|0.344780889|24.52%
View larissa_s11 11 . 2906141 29.0 A G SB;LowGQ 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None CDKN1C|0.344780889|24.52%
View larissa_s11 11 rs384713
dbSNP Clinvar
2906159 29.0 A G SB;LowGQ 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None CDKN1C|0.344780889|24.52%
View larissa_s11 11 . 2906123 31.0 G A SB;LowDP 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None CDKN1C|0.344780889|24.52%

CHEK2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 22 rs79357544
dbSNP Clinvar
29091841 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None

CHRNA3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 15 rs1051730
dbSNP Clinvar
78894339 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.16813 0.16810 0.27192 None None None None None None CHRNA3|0.230381335|33.33%

DDB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 11 rs326212
dbSNP Clinvar
47238522 100.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.99421 0.99420 0.00469 None None None None None None DDB2|0.316525468|26.33%

DIS3L2

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 rs3811578
dbSNP Clinvar
233201328 100.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.20208 0.20210 0.09947 None None None None None None DIS3L2|0.190337197|37.78%
View larissa_s11 2 rs11887184
dbSNP Clinvar
232952286 100.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.11242 0.11240 0.10473 None None None None None None DIS3L2|0.190337197|37.78%

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 rs1140475
dbSNP Clinvar
55266417 100.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.91673 0.91670 0.11095 None None None None None None EGFR|0.999639222|0.3%

ERCC2

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 19 rs238406
dbSNP Clinvar
45868309 100.0 T G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.63618 0.63620 0.33746 None None None None None None ERCC2|0.489607884|16.33%
View larissa_s11 19 rs1052555
dbSNP Clinvar
45855524 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.18231 0.18230 0.25873 None None None None None None ERCC2|0.489607884|16.33%

ERCC4

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 rs1799801
dbSNP Clinvar
14041958 100.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.24121 0.24120 0.25319 None None None None None None ERCC4|0.251241672|31.43%

EXT1

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 rs7837891
dbSNP Clinvar
118819578 100.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.33846 0.33850 0.35107 None None None None None None EXT1|0.978905939|1.49%
View larissa_s11 8 rs11546829
dbSNP Clinvar
118847782 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.17392 0.17390 0.24604 None None None None None None EXT1|0.978905939|1.49%

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 rs1800358
dbSNP Clinvar
89809319 100.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.15755 0.15750 0.13196 None None None None None None FANCA|0.007695026|82.85%
View larissa_s11 16 rs17226980
dbSNP Clinvar
89825065 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.07208 0.07208 0.05940 None None None None None None FANCA|0.007695026|82.85%
View larissa_s11 16 rs1800331
dbSNP Clinvar
89858417 100.0 C A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.07189 0.07188 0.06063 None None None None None None FANCA|0.007695026|82.85%
View larissa_s11 16 rs11649210
dbSNP Clinvar
89807233 100.0 C G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.13798 0.13800 0.10796 None None None None None None ZNF276|0.058345377|60.32%,FANCA|0.007695026|82.85%

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 rs72492998
dbSNP Clinvar
10088308 100.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None
View larissa_s11 3 rs764447374
dbSNP Clinvar
10088404 100.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None
View larissa_s11 3 rs12330369
dbSNP Clinvar
10089723 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None
View larissa_s11 3 rs112887807
dbSNP Clinvar
10088299 100.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None

FANCE

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 6 rs4713867
dbSNP Clinvar
35423662 100.0 A C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.77796 0.77800 0.26434 None None None None None None FANCE|0.052066515|62.05%

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 larissa_s11 15 rs7183618
dbSNP Clinvar
89838236 100.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.98083 0.98080 0.03993 None None None None None None FANCI|0.35466511|23.8%

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 larissa_s11 2 rs848291
dbSNP Clinvar
58388696 100.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.70647 0.70650 0.29591 None None None None None None FANCL|0.67774308|9.14%

FANCM

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 larissa_s11 14 rs781066677
dbSNP Clinvar
45644660 100.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None

GATA2

Omim - GeneCards - NCBI
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 3 rs1573858
dbSNP Clinvar
128205860 100.0 G C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.30661 None None None None None None GATA2|0.980157483|1.46%

HNF1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 12 rs1169289
dbSNP Clinvar
121416622 100.0 C G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.42851 0.42850 0.41748 None None None None None None HNF1A|0.210728001|35.48%

MEN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 11 rs540012
dbSNP Clinvar
64572557 100.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.97604 0.97600 0.02385 None None None None None None MEN1|0.661753232|9.63%

MSH6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 2 rs1800932
dbSNP Clinvar
48018081 100.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.08666 0.08666 0.16523 None None None None None None MSH6|0.783268365|6.24%,FBXO11|0.866072996|4.34%

MYNN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 3 rs10936599
dbSNP Clinvar
169492101 100.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.27057 0.27060 0.18707 None None None None None None MYNN|0.397655846|20.92%

NBN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 8 . 90976684 100.0 G A SB 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None NBN|0.433060118|19.03%

NF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 17 rs1801052
dbSNP Clinvar
29508775 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.51178 0.51180 0.42560 None None None None None None NF1|0.993936903|0.88%
View larissa_s11 17 rs2285892
dbSNP Clinvar
29553485 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.49681 0.49680 0.41635 None None None None None None NF1|0.993936903|0.88%

NSD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 5 rs28580074
dbSNP Clinvar
176721198 100.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.77137 0.77140 0.10103 None None None None None None NSD1|0.279087649|29.19%

PALB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 16 rs45516100
dbSNP Clinvar
23619235 100.0 A C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.01757 0.01757 0.02801 None None None None None None PALB2|0.063788153|58.94%

PHOX2B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 4 rs757355779
dbSNP Clinvar
41748043 100.0 T C SB 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PHOX2B|0.180277382|39.01%
View larissa_s11 4 . 41748043 65.0 T G SB 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PHOX2B|0.180277382|39.01%
View larissa_s11 4 . 41748037 100.0 C G SB 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PHOX2B|0.180277382|39.01%
View larissa_s11 4 . 41748034 68.0 C G SB 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PHOX2B|0.180277382|39.01%
View larissa_s11 4 . 41747944 25.0 G A LowGQ 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PHOX2B|0.180277382|39.01%
View larissa_s11 4 . 41748034 100.0 C T SB 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PHOX2B|0.180277382|39.01%

PMS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 7 rs1805319
dbSNP Clinvar
6036980 100.0 G C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.83127 0.83130 0.17623 None None None None None None None

PRF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 10 rs115281140
dbSNP Clinvar
72360224 100.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.01278 0.01278 0.01223 None None None None None None PRF1|0.005055702|85.74%
View larissa_s11 10 rs116554195
dbSNP Clinvar
72360197 100.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.01518 0.01518 0.01584 None None None None None None PRF1|0.005055702|85.74%
View larissa_s11 10 rs885821
dbSNP Clinvar
72358655 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.11262 0.11260 0.14786 None None None None None None PRF1|0.005055702|85.74%
View larissa_s11 10 rs885822
dbSNP Clinvar
72358577 100.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.69589 0.69590 0.33761 None None None None None None PRF1|0.005055702|85.74%

RB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 13 . 48878129 74.0 C G SB 0/1 0 SYNONYMOUS_CODING LOW None 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 rs4925828
dbSNP Clinvar
145737636 100.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.94609 0.94610 0.00159 None None None None None None RECQL4|0.005456729|85.27%
View larissa_s11 8 rs4244613
dbSNP Clinvar
145741765 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.37001 0.37000 0.33916 None None None None None None RECQL4|0.005456729|85.27%
View larissa_s11 8 rs2306386
dbSNP Clinvar
145742879 100.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.57508 0.57510 0.44931 None None None None None None RECQL4|0.005456729|85.27%

RET

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 10 rs1800858
dbSNP Clinvar
43595968 100.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.75359 0.75360 0.19084 None None None None None None RET|0.976360102|1.58%
View larissa_s11 10 rs1800860
dbSNP Clinvar
43606687 100.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.77516 0.77520 0.25142 None None None None None None RET|0.976360102|1.58%
View larissa_s11 10 rs1800861
dbSNP Clinvar
43613843 100.0 G T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.71246 0.71250 0.19737 None None None None None None RET|0.976360102|1.58%
View larissa_s11 10 rs1800863
dbSNP Clinvar
43615633 100.0 C G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.17252 0.17250 0.16095 None None None None None None RET|0.976360102|1.58%

RHBDF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 17 . 74467814 20.0 G A LowGQ;LowDP 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None RHBDF2|0.101758114|50.82%

SBDS

Omim - GeneCards - NCBI
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 7 rs1061695
dbSNP Clinvar
66459256 100.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.05032 0.05032 0.08204 None None None None None None SBDS|0.280329731|29.07%

SDHB

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 1 rs2746462
dbSNP Clinvar
17380497 100.0 G T PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.95707 0.95710 0.04853 None None None None None None SDHB|0.616900215|11.22%

SLX4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 16 rs376877866
dbSNP Clinvar
3640795 100.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.00080 0.00080 0.00031 None None None None None None SLX4|0.005065582|85.73%
View larissa_s11 16 rs3810812
dbSNP Clinvar
3639139 100.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.73962 0.73960 0.37340 None None None None None None SLX4|0.005065582|85.73%
View larissa_s11 16 rs74640850
dbSNP Clinvar
3656680 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.04193 0.04193 0.04979 None None None None None None SLX4|0.005065582|85.73%
View larissa_s11 16 rs8061528
dbSNP Clinvar
3656482 100.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.23083 0.23080 0.21895 None None None None None None SLX4|0.005065582|85.73%
View larissa_s11 16 rs112511042
dbSNP Clinvar
3650991 100.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.05471 0.05471 0.06518 None None None None None None SLX4|0.005065582|85.73%

TSC2

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 16 . 2126542 100.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None
View larissa_s11 16 rs45517384
dbSNP Clinvar
2136842 100.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.00339 0.00340 0.01064 None None None None None None None

WRN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View larissa_s11 8 rs1800389
dbSNP Clinvar
30924557 100.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.68730 0.68730 0.34630 None None None None None None WRN|0.464572079|17.41%
View larissa_s11 8 rs1801196
dbSNP Clinvar
31024638 100.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.27356 0.27360 0.28210 None None None None None None WRN|0.464572079|17.41%

WT1

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 11 rs1799925
dbSNP Clinvar
32456562 100.0 G A LowDP 0/1 0 SYNONYMOUS_CODING LOW None 0.30391 0.30390 None None None None None None WT1|0.990004297|1.09%

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 rs2227998
dbSNP Clinvar
14193889 100.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.23542 0.23540 0.26583 None None None None None None XPC|0.047964422|63.33%
View larissa_s11 3 rs2958057
dbSNP Clinvar
14197987 100.0 A T PASS 1/1 0 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None XPC|0.047964422|63.33%
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