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Genes at Omim

ADH1B, AIP, ALK, APC, ATM, BRCA1, BRCA2, BRIP1, BUB1B, CEBPA, CEP57, EGFR, EPCAM, ERCC5, FANCD2, HNF1A, IL13, MEN1, MLH1, MLPH, NSD1, PMS2, PRF1, RECQL4, RET, RHBDF2, SLX4, TP53, 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)
CEBPA ?Leukemia, acute myeloid, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
CEP57 Mosaic variegated aneuploidy syndrome 2, 614114 (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)
ERCC5 Cerebrooculofacioskeletal syndrome 3, 616570 (3)
Xeroderma pigmentosum, group G, 278780 (3)
Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (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)
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)
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)
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)
SLX4 Fanconi anemia, complementation group P, 613951 (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)
XPC Xeroderma pigmentosum, group C, 278720 (3)

Genes at Clinical Genomics Database

AIP, ALK, APC, ATM, BRCA1, BRCA2, BRIP1, BUB1B, CEBPA, CEP57, EGFR, EPCAM, ERCC5, FANCD2, FANCM, HNF1A, MEN1, MLH1, MLPH, NSD1, PMS2, PRF1, RECQL4, RET, RHBDF2, SLX4, TP53, WRN, 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
CEBPA Acute myeloid leukemia, familial
CEP57 Mosaic variegated aneuploidy syndrome 2
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
ERCC5 Xeroderma pigmentosum, group G/Cockayne syndrome
Xeroderma pigmentosum, group G
FANCD2 Fanconi anemia, complementation group D2
FANCM Fanconi anemia type M
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
MLH1 Muir-Torre syndrome
Endometrial cancer
Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
MLPH Griscelli syndrome, type 3
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
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
SLX4 Fanconi anemia type P
TP53 Colorectal cancer
Adrenocortical carcinoma
Non-Hodgkin lymphoma
Hepatoblastoma
Breast cancer, familial
Osteogenic sarcoma
Ependymoma, intracranial
Choroid plexus papilloma
Li-Fraumeni syndrome
WRN Werner syndrome
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 49
Number of Genes: 33

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

AIP

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 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
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 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

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 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
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 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
Options Individual Chr
RsId
Pos
Qual
Ref
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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 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 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 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 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
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 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

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 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

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 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

CEBPA

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 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
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 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

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 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

EPCAM

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 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

ERCC5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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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 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 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
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

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 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

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 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 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
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

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 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
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 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
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 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

IL13

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 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
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 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

MLH1

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 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
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

MLPH

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 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

NSD1

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 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

PMS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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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 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
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

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 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

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 pc751_s1 8 rs2721190
dbSNP
145742514 1263.35 A G PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94329 0.94330 0.00483 1.00 0.00 None None None None None None None

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 pc751_s1 10 rs1799939
dbSNP
43610119 1140.92 G A PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16913 0.16910 0.15700 0.74 0.02 None None None None None None None

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 pc751_s1 17 rs3809694
dbSNP
74475975 1700.19 C A PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45627 0.45630 0.40409 0.67 0.00 None None None None None None None
View pc751_s1 17 rs3744045
dbSNP
74475024 417.88 G A PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76518 0.76520 0.20475 0.02 0.27 None None None None None None None

SLX4

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 pc751_s1 16 rs114014006
dbSNP
3640815 934.18 C G PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01797 0.01797 0.01816 0.11 0.42 None None None None None None None
View pc751_s1 16 rs714181
dbSNP
3640274 1781.93 G A PASS 0/1 139 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23962 0.23960 0.21164 0.31 0.01 None None None None None None None
View pc751_s1 16 rs114472821
dbSNP
3640715 1946.57 G A PASS 0/1 212 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00819 0.00819 0.00516 0.72 0.00 None None None None None None None

TP53

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 rs1042522
dbSNP
7579472 416.64 G C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54293 0.54290 0.36996 0.57 0.14 None None None None None None None

ULK4

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 pc751_s1 3 rs1052501
dbSNP
41925398 2470.14 C T PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68850 0.68850 0.31690 1.00 0.00 None None None None None None None

WRN

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 8 rs1800391
dbSNP
30938704 1464.7 G A PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04692 0.04692 0.05751 0.16 0.04 None None None None None None None

XPC

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 pc751_s1 3 rs2228001
dbSNP
14187449 686.94 G T PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68470 0.68470 0.35794 1.00 0.00 None None None None None None None