SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

ABL1, AKT1, APC, ATM, BRAF, CDKN2A, CTNNB1, ERBB2, ERBB4, FGFR1, FGFR3, FLT3, HRAS, JAK2, KDR, KIT, KRAS, MET, MPL, NOTCH1, NRAS, PDGFRA, PIK3CA, PTEN, RB1, RET, SMAD4, SMARCB1, STK11, TP53, VHL,
ABL1 Congenital heart defects and skeletal malformations syndrome, 617602 (3)
Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
AKT1 Breast cancer, somatic, 114480 (3)
Colorectal cancer, somatic, 114500 (3)
Cowden syndrome 6, 615109 (3)
{Schizophrenia, susceptibility to}, 181500 (2)
Ovarian cancer, somatic, 167000 (3)
Proteus syndrome, somatic, 176920 (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)
BRAF Adenocarcinoma of lung, somatic, 211980 (3)
Cardiofaciocutaneous syndrome, 115150 (3)
Colorectal cancer, somatic (3)
LEOPARD syndrome 3, 613707 (3)
Melanoma, malignant, somatic (3)
Nonsmall cell lung cancer, somatic (3)
Noonan syndrome 7, 613706 (3)
CDKN2A {Melanoma, cutaneous malignant, 2}, 155601 (3)
Melanoma and neural system tumor syndrome, 155755 (3)
Orolaryngeal cancer, multiple, (3)
Pancreatic cancer/melanoma syndrome, 606719 (3)
CTNNB1 Hepatocellular carcinoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Exudative vitreoretinopathy 7, 617572 (3)
Medulloblastoma, somatic, 155255 (3)
Mental retardation, autosomal dominant 19, 615075 (3)
Ovarian cancer, somatic, 167000 (3)
Pilomatricoma, somatic, 132600 (3)
ERBB2 Adenocarcinoma of lung, somatic, 211980 (3)
Gastric cancer, somatic, 613659 (3)
Glioblastoma, somatic, 137800 (3)
Ovarian cancer, somatic, (3)
ERBB4 Amyotrophic lateral sclerosis 19, 615515 (3)
FGFR1 Hartsfield syndrome, 615465 (3)
Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3)
Encephalocraniocutaneous lipomatosis, 613001 (3)
Jackson-Weiss syndrome, 123150 (3)
Osteoglophonic dysplasia, 166250 (3)
Pfeiffer syndrome, 101600 (3)
Trigonocephaly 1, 190440 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FLT3 Leukemia, acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
HRAS Bladder cancer, somatic, 109800 (3)
Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Spitz nevus or nevus spilus, somatic, 137550 (3)
Thyroid carcinoma, follicular, somatic, 188470 (3)
JAK2 Leukemia, acute myeloid, somatic, 601626 (3)
Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600880 (3)
KDR {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
Hemangioma, capillary infantile, somatic, 602089 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, somatic, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mastocytosis, cutaneous, 154800 (3)
Mastocytosis, systemic, somatic, 154800 (3)
Piebaldism, 172800 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
MET Hepatocellular carcinoma, childhood type, somatic, 114550 (3)
{Osteofibrous dysplasia, susceptibility to}, 607278 (3)
?Deafness, autosomal recessive 97, 616705 (3)
Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
MPL Myelofibrosis with myeloid metaplasia, somatic, 254450 (3)
Thrombocythemia 2, 601977 (3)
Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
NOTCH1 Adams-Oliver syndrome 5, 616028 (3)
Aortic valve disease 1, 109730 (3)
NRAS Colorectal cancer, somatic, 114500 (3)
Epidermal nevus, somatic, 162900 (3)
Melanocytic nevus syndrome, congenital, somatic, 137550 (3)
Neurocutaneous melanosis, somatic, 249400 (3)
Noonan syndrome 6, 613224 (3)
?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Thyroid carcinoma, follicular, somatic, 188470 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PIK3CA CLAPO syndrome, somatic, 613089 (3)
CLOVE syndrome, somatic, 612918 (3)
Gastric cancer, somatic, 613659 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Cowden syndrome 5, 615108 (3)
Keratosis, seborrheic, somatic, 182000 (3)
Macrodactyly, somatic, 155500 (3)
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3)
Nevus, epidermal, somatic, 162900 (3)
Nonsmall cell lung cancer, somatic, 211980 (3)
Ovarian cancer, somatic, 167000 (3)
PTEN {Glioma susceptibility 2}, 613028 (3)
{Meningioma}, 607174 (3)
Cowden syndrome 1, 158350 (3)
Lhermitte-Duclos syndrome, 158350 (3)
Macrocephaly/autism syndrome, 605309 (3)
Prostate cancer, somatic, 176807 (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)
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)
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3)
Myhre syndrome, 139210 (3)
Pancreatic cancer, somatic, 260350 (3)
Polyposis, juvenile intestinal, 174900 (3)
SMARCB1 Coffin-Siris syndrome 3, 614608 (3)
{Rhabdoid tumor predisposition syndrome 1}, 609322 (3)
{Schwannomatosis-1, susceptibility to}, 162091 (3)
Rhabdoid tumors, somatic, 609322 (3)
STK11 Melanoma, malignant, somatic (3)
Pancreatic cancer, somatic, 260350 (3)
Peutz-Jeghers syndrome, 175200 (3)
Testicular tumor, somatic, 273300 (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)
VHL Hemangioblastoma, cerebellar, somatic (3)
Erythrocytosis, familial, 2, 263400 (3)
Pheochromocytoma, 171300 (3)
Renal cell carcinoma, somatic, 144700 (3)
von Hippel-Lindau syndrome, 193300 (3)

Genes at Clinical Genomics Database

AKT1, APC, ATM, BRAF, CDKN2A, CTNNB1, ERBB4, FGFR1, FGFR3, HRAS, JAK2, KIT, KRAS, MET, MPL, NOTCH1, NRAS, PDGFRA, PIK3CA, PTEN, RB1, RET, SMAD4, SMARCB1, STK11, TP53, VHL,
AKT1 Cowden syndrome 6
Proteus syndrome
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
BRAF Noonan syndrome
Cardiofaciocutaneous syndrome
LEOPARD syndrome 3
CDKN2A Melanoma, familial
Melanoma-pancreatic cancer syndrome
CTNNB1 Mental retardation, autosomal dominant 19
ERBB4 Amyotrophic lateral sclerosis 19
FGFR1 Hypogonadotropic hypogonadism 2 with or without anosmia
Trigonocephaly 1
Jackson-Weiss syndrome
Pfeiffer syndrome
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
HRAS Costello syndrome
Congenital myopathy with excess of muscle spindles
JAK2 Thrombocythemia 3
KIT Gastrointestinal stromal tumor
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
MET Renal cell carcinoma, papillary
Deafness, autosomal recessive 97
MPL Thrombocythemia 2
Amegakaryocytic thrombocytopenia
NOTCH1 Aortic valve disease
NRAS Autoimmune lymphoproliferative syndrome type IV
Noonan syndrome 6
PDGFRA Gastrointestinal stromal tumor
PIK3CA Cowden syndrome 5
PTEN PTEN hamartoma tumor syndrome
Cowden syndrome
Bannayan-Riley-Ruvalcaba syndrome
Lhermitte-Duclos syndrome
Glioma susceptibility 2
Meningioma, familial
Endometrial cancer
RB1 Retinoblastoma
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
SMAD4 Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Polyposis, juvenile intestinal
Myhre syndrome
SMARCB1 Schwannomatosis
Rhabdoid tumor predisposition syndrome
STK11 Peutz-Jeghers syndrome
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
VHL Von Hippel Lindau
Erythrocytosis, familial, 2 (Chuvash polycythemia)
Pheochromocytoma

Genes at HGMD

Summary

Number of Variants: 81
Number of Genes: 32

Export to: CSV
  • Page 1 of 1

ABL1

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 test 9 . 133748340 37.8226 A G PASS 0/1 6711 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01 0.89 None None None None None None ABL1|0.915754224|3.1%
View test 9 . 133748294 32.0759 A G PASS 0/1 6705 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26 0.03 None None None None None None ABL1|0.915754224|3.1%

AKT1

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 test 14 . 105246523 376.471 T C PASS 0/1 7067 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None AKT1|0.999993361|0.05%

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 test 5 . 112175769 21269.0 CGG C,... PASS 0/2 13646 FRAME_SHIFT HIGH None None None None None None None APC|0.952088564|2.19%
View test 5 . 112175209 206.578 AAT A PASS 0/1 6235 FRAME_SHIFT HIGH None None None None None None None APC|0.952088564|2.19%
View test 5 . 112175944 47.0058 A G PASS 0/1 4453 SYNONYMOUS_CODING LOW None None None None None None None APC|0.952088564|2.19%
View test 5 . 112175210 324.342 AT A PASS 0/1 6218 FRAME_SHIFT HIGH None None None None None None None APC|0.952088564|2.19%

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 test 11 . 108225573 26.9568 C T PASS 0/1 5129 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None ATM|0.992666029|0.97%,C11orf65|0.02654042|71.1%

BRAF

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 test 7 . 140453173 26.5327 G A PASS 0/1 5586 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05 0.04 None None None None None None BRAF|0.683349444|8.98%
View test 7 . 140453143 30.1843 C T PASS 0/1 5543 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.92 None None None None None None BRAF|0.683349444|8.98%

CDKN2A

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 test 9 . 21970944 89.217 T C PASS 0/1 5400 None None None None None None None None None CDKN2A|0.995180539|0.81%
View test 9 . 21971041 17.2445 A C PASS 0/1 5628 SYNONYMOUS_CODING LOW None 0.00 0.95 None None None None None None CDKN2A|0.995180539|0.81%

CTNNB1

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 test 3 . 41266064 454.245 GC... AC... PASS 0/3 7311 NON_SYNONYMOUS_CODING MODERATE None None None None None None None CTNNB1|0.999915618|0.18%

ERBB2

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 test 17 . 37881386 44.6827 A G PASS 0/1 9353 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ERBB2|0.999907834|0.19%

ERBB4

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 test 2 . 212652764 49.9311 T C PASS 0/1 8303 NON_SYNONYMOUS_CODING MODERATE None 0.45 0.00 None None None None None None ERBB4|0.999481457|0.34%
View test 2 . 212530117 23.4112 T C PASS 0/1 9627 NON_SYNONYMOUS_CODING MODERATE None 0.22 0.01 None None None None None None ERBB4|0.999481457|0.34%
View test 2 . 212530063 36.3658 G T PASS 0/1 9564 NON_SYNONYMOUS_CODING MODERATE None 0.44 0.62 None None None None None None ERBB4|0.999481457|0.34%
View test 2 . 212576869 218.307 A G PASS 0/1 9202 NON_SYNONYMOUS_CODING MODERATE None 0.23 0.09 None None None None None None ERBB4|0.999481457|0.34%

FBXW7

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 test 4 . 153250922 18.6166 C T PASS 0/1 6646 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.46 None None None None None None FBXW7|0.956474052|2.06%

FGFR1

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 test 8 . 38285892 148.398 T C PASS 0/1 5977 SYNONYMOUS_CODING LOW None None None None None None None FGFR1|0.99898026|0.42%

FGFR3

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 test 4 . 1808940 11.0397 A G PASS 0/1 15105 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.97 None None None None None None FGFR3|0.776648495|6.4%
View test 4 . 1808975 18.5848 G A PASS 0/1 15100 NON_SYNONYMOUS_CODING MODERATE None 0.39 0.02 None None None None None None FGFR3|0.776648495|6.4%
View test 4 . 1808884 10.4348 G C PASS 0/1 15074 SYNONYMOUS_CODING LOW None None None None None None None FGFR3|0.776648495|6.4%

FLT3

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 test 13 . 28608256 166.016 A AT... PASS 0/2 6690 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None FLT3|0.691934663|8.71%
View test 13 . 28610173 47.2465 A G PASS 0/1 15317 SYNONYMOUS_CODING LOW None None None None None None None FLT3|0.691934663|8.71%
View test 13 . 28608254 71.5059 A G PASS 0/1 6667 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.07 None None None None None None FLT3|0.691934663|8.71%
View test 13 . 28608317 38.5712 T C PASS 0/1 6753 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.84 None None None None None None FLT3|0.691934663|8.71%

HRAS

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 test 11 . 533832 17.1852 C T PASS 0/1 11204 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None HRAS|0.999987107|0.08%

JAK2

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 test 9 . 5073768 100.269 G A PASS 0/1 9132 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.95 None None None None None None JAK2|0.99507323|0.83%

KDR

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 test 4 . 55962448 23.1631 A C PASS 0/1 13795 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None KDR|0.951226696|2.22%

KIT

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 test 4 . 55593603 7.93945 TG... AG... PASS 0/2 21728 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None KIT|0.689603428|8.78%

KRAS

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 test 12 . 25398209 88.6529 T C PASS 0/1 8029 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.98 None None None None None None KRAS|0.998658451|0.47%
View test 12 . 25378619 23.2458 T C PASS 0/1 4720 NON_SYNONYMOUS_CODING MODERATE None 0.46 0.00 None None None None None None KRAS|0.998658451|0.47%
View test 12 . 25398275 86.8462 C T PASS 0/1 7991 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.99 None None None None None None KRAS|0.998658451|0.47%
View test 12 . 25398284 193.193 CC AA... PASS 0/7 7944 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None KRAS|0.998658451|0.47%

MET

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 test 7 . 116403202 18.1606 C T PASS 0/1 6155 SYNONYMOUS_CODING LOW None None None None None None None MET|0.987477755|1.18%
View test 7 . 116340231 53.9178 T C PASS 0/1 8303 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.07 None None None None None None MET|0.987477755|1.18%

MPL

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 test 1 . 43815049 18.4702 A G PASS 0/1 9465 None None None None None None None None None MPL|0.472531012|17.07%

NOTCH1

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 test 9 . 139390816 7.29479 G A PASS 0/1 12160 STOP_GAINED HIGH None None None None None None None NOTCH1|0.999930909|0.16%

NRAS

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 test 1 . 115256529 9.26269 TG AA... PASS 0/3 25280 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.86 None None None None None None NRAS|0.993626787|0.9%
View test 1 . 115258728 24.8701 T C PASS 0/1 19200 SYNONYMOUS_CODING LOW None None None None None None None NRAS|0.993626787|0.9%

PDGFRA

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 test 4 . 55144565 213.915 G A PASS 0/1 5684 NON_SYNONYMOUS_CODING MODERATE None 0.05 1.00 None None None None None None FIP1L1|0.803179019|5.74%,PDGFRA|0.732814816|7.55%

PIK3CA

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 test 3 . 178916960 10.2965 A G PASS 0/1 3119 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02 0.82 None None None None None None PIK3CA|0.99977008|0.26%
View test 3 . 178952081 142.747 G A,GA PASS 0/1 9990 FRAME_SHIFT HIGH None None None None None None None PIK3CA|0.99977008|0.26%
View test 3 . 178952065 8.68483 G A PASS 0/1 10994 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.03 None None None None None None PIK3CA|0.99977008|0.26%

PTEN

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 test 10 . 89692889 7.26934 A G PASS 0/1 13636 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None PTEN|0.999988229|0.07%
View test 10 . 89717712 90.7692 CG C,... PASS 0/2 12294 FRAME_SHIFT HIGH None None None None None None None PTEN|0.999988229|0.07%

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 test 13 . 48941640 14.6702 T G PASS 0/1 7942 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.67 None None None None None None RB1|0.998226541|0.53%
View test 13 . 49039198 88.0634 T C PASS 0/1 12859 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None RB1|0.998226541|0.53%
View test 13 . 49039185 61.4925 T C PASS 0/1 12838 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None RB1|0.998226541|0.53%
View test 13 . 49033913 24.9126 T C PASS 0/1 2691 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.30 None None None None None None RB1|0.998226541|0.53%
View test 13 . 48923141 134.152 A G PASS 0/1 863 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.26 None None None None None None RB1|0.998226541|0.53%

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 test 10 . 43609121 37.5512 A G PASS 0/1 13629 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33 0.01 None None None None None None RET|0.976360102|1.58%

SMAD4

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 test 18 . 48581237 10.9719 A G PASS 0/1 23416 NON_SYNONYMOUS_CODING MODERATE None 0.36 0.27 None None None None None None SMAD4|0.999854084|0.21%

SMARCB1

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 test 22 . 24134043 32.6612 C T PASS 0/1 10176 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.00 None None None None None None SMARCB1|0.716911662|8.07%
View test 22 . 24176367 18.7289 A G PASS 0/1 7261 SYNONYMOUS_STOP LOW None None None None None None None SMARCB1|0.716911662|8.07%

STK11

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 test 19 . 1221243 21.2418 G A PASS 0/1 5692 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.69 None None None None None None STK11|0.510936492|15.32%
View test 19 . 1223049 62.6207 A G PASS 0/1 9061 NON_SYNONYMOUS_CODING MODERATE None 0.41 0.00 None None None None None None STK11|0.510936492|15.32%
View test 19 . 1221313 328.058 GC... GC... PASS 0/1 7791 FRAME_SHIFT HIGH None None None None None None None STK11|0.510936492|15.32%

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 test 17 . 7578220 7.30327 T C PASS 0/1 27350 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.19 0.04 None None None None None None TP53|0.999869342|0.2%
View test 17 . 7577098 469.326 TCTCC AC... PASS 0/2 5625 FRAME_SHIFT HIGH None None None None None None None TP53|0.999869342|0.2%
View test 17 . 7578430 22.4272 TG AG... PASS 0/2 10955 FRAME_SHIFT HIGH None None None None None None None TP53|0.999869342|0.2%
View test 17 . 7579470 13108.3 CGG CG... PASS 0/1 9891 FRAME_SHIFT HIGH None None None None None None None TP53|0.999869342|0.2%
View test 17 . 7577041 30.3158 C T PASS 0/1 5610 SYNONYMOUS_CODING LOW None None None None None None None TP53|0.999869342|0.2%

VHL

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 test 3 . 10188240 46.2456 T C,G PASS 0/1 18167 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.97 None None None None None None VHL|0.13310235|45.43%
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 test 10 . 89685352 23.8311 T C PASS 0/1 3467 None None None None None None None None None PTEN|0.999988229|0.07%
View test 13 . 48942611 22.775 G A PASS 0/1 14921 None None None None None None None None None RB1|0.998226541|0.53%
View test 13 . 48923247 34.9227 T C PASS 0/1 888 None None None None None None None None None RB1|0.998226541|0.53%
View test 7 . 55259572 14.6097 G A PASS 0/1 10293 None None None None None None None None None EGFR|0.999639222|0.3%
View test 22 . 24176373 17.2191 C G PASS 0/1 7032 None None None None None None None None None SMARCB1|0.716911662|8.07%
View test 10 . 89685350 42.3098 T C PASS 0/1 3478 None None None None None None None None None PTEN|0.999988229|0.07%
View test 10 . 89624223 56.3862 A G PASS 0/1 19044 None None None None None None None None None PTEN|0.999988229|0.07%
View test 22 . 24176320 46.8478 T C PASS 0/1 8190 None None None None None None None None None SMARCB1|0.716911662|8.07%
View test 17 . 37880969 8.82479 T C PASS 0/1 11818 None None None None None None None None None ERBB2|0.999907834|0.19%
View test 3 . 178927910 103.875 A G PASS 0/1 1043 None None None None None None None None None PIK3CA|0.99977008|0.26%
View test 19 . 17945633 31.4651 A G PASS 0/1 9418 None None None None None None None None None JAK3|0.155291007|42.26%
View test 19 . 17954137 26.5836 G A PASS 0/1 5986 None None None None None None None None None JAK3|0.155291007|42.26%
View test 3 . 178927946 68.2657 T C PASS 0/1 1104 None None None None None None None None None PIK3CA|0.99977008|0.26%
View test 7 . 55259607 42.3267 A G PASS 0/1 7874 None None None None None None None None None EGFR|0.999639222|0.3%
View test 4 . 55592242 12.0534 A T PASS 0/1 12404 None None None None None None None None None KIT|0.689603428|8.78%
View test 5 . 149433596 8458.83 TG GA PASS 0/1 9034 None None None None None None None None None CSF1R|0.136347301|44.94%
  • Page 1 of 1