# | Chr | Position | dbSNP | Ref | Alt | Gene | Change | type | Molecular_Consequence | ClinVar_ID | MutationInEastAsia | disease |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 9 | 21974705 | rs373407950(chr9-21974705-GtoT) | G | T | CDKN2A | CDKN2A:NM_000077.4:exon1:c.C122A:p.P41Q CDKN2A:NM_001195132.1:exon1:c.C122A:p.P41Q CDKN2A:NM_058197.4:exon1:c.C122A:p.P41Q | nonsynonymous SNV | SO:0001583|missense_variant SO:0001627|intron_variant | 141111 | 4 | Hereditary_cancer-predisposing_syndrome Hereditary_cutaneous_melanoma |
2 | 9 | 135772897 | rs1374339026(chr9-135772897-AtoG) | A | G | TSC1 | TSC1:NM_001162427.2:exon20:c.T2573C:p.I858T TSC1:NM_001362177.2:exon20:c.T2363C:p.I788T TSC1:NM_000368.4:exon21:c.T2726C:p.I909T TSC1:NM_001162426.2:exon21:c.T2723C:p.I908T | nonsynonymous SNV | '- | '- | 2 | . |
3 | 5 | 86564637 | rs779313090(chr5-86564637-GtoC) | G | C | RASA1 | RASA1:NM_002890.3:exon1:c.G369C:p.L123F | nonsynonymous SNV | '- | '- | 2 | . |
4 | 5 | 149459663 | rs753500118(chr5-149459663-CtoA) | C | A | CSF1R | CSF1R:NM_001288705.2:exon3:c.G544T:p.G182C CSF1R:NM_005211.3:exon4:c.G544T:p.G182C CSF1R:NM_001349736.1:exon5:c.G544T:p.G182C | nonsynonymous SNV | '- | '- | 3 | . |
5 | 5 | 131931460 | rs587781454(chr5-131931460--toT) | '- | T | RAD50 | RAD50:NM_005732.4:exon13:c.2165_2166insT:p.K722fs | frameshift insertion | '- | '- | 1 | Hereditary_cancer-predisposing_syndrome |
6 | 4 | 80905985 | rs312262690(chr4-80905985--toG) | '- | G | ANTXR2 | ANTXR2:NM_001145794.1:exon13:c.1073dupC:p.P358fs ANTXR2:NM_001286780.2:exon13:c.842dupC:p.P281fs ANTXR2:NM_001286781.2:exon13:c.842dupC:p.P281fs ANTXR2:NM_058172.6:exon13:c.1073dupC:p.P358fs | frameshift insertion | '- | '- | 1 | Hyaline_fibromatosis_syndrome |
7 | 3 | 49398430 | rs1310116062(chr3-49398430-TtoC) | T | C | RHOA | RHOA:NM_001313943.2:exon5:c.A478G:p.R160G | nonsynonymous SNV | '- | '- | 8 | . |
8 | 3 | 37070411 | rs1553653195(chr3-37070411-CtoT) | C | T | MLH1 | MLH1:NM_001354625.1:exon10:c.C472T:p.Q158X MLH1:NM_001354621.1:exon11:c.C523T:p.Q175X MLH1:NM_001354623.1:exon11:c.C523T:p.Q175X MLH1:NM_001354624.1:exon11:c.C472T:p.Q158X MLH1:NM_001354626.1:exon11:c.C472T:p.Q158X MLH1:NM_001354627.1:exon11:c.C472T:p.Q158X MLH1:NM_001167619.2:exon12:c.C823T:p.Q275X MLH1:NM_001258273.1:exon12:c.C823T:p.Q275X MLH1:NM_001354615.1:exon12:c.C823T:p.Q275X MLH1:NM_001354616.1:exon12:c.C823T:p.Q275X MLH1:NM_001354622.1:exon12:c.C523T:p.Q175X MLH1:NM_001354629.1:exon12:c.C1447T:p.Q483X MLH1:NM_000249.3:exon13:c.C1546T:p.Q516X MLH1:NM_001167617.2:exon13:c.C1252T:p.Q418X MLH1:NM_001167618.2:exon13:c.C823T:p.Q275X MLH1:NM_001258271.1:exon13:c.C1546T:p.Q516X MLH1:NM_001354617.1:exon13:c.C823T:p.Q275X MLH1:NM_001354618.1:exon13:c.C823T:p.Q275X MLH1:NM_001354620.1:exon13:c.C1252T:p.Q418X MLH1:NM_001354628.1:exon13:c.C1546T:p.Q516X MLH1:NM_001354630.1:exon13:c.C1546T:p.Q516X MLH1:NM_001258274.2:exon14:c.C823T:p.Q275X MLH1:NM_001354619.1:exon14:c.C823T:p.Q275X | stopgain | SO:0001587|nonsense | 545957 | 1 | not_provided |
9 | 3 | 37035085 | rs1553637237(chr3-37035085-TtoG) | T | G | MLH1 | MLH1:NM_000249.3:exon1:c.T47G:p.V16G MLH1:NM_001258271.1:exon1:c.T47G:p.V16G MLH1:NM_001354628.1:exon1:c.T47G:p.V16G MLH1:NM_001354629.1:exon1:c.T47G:p.V16G MLH1:NM_001354630.1:exon1:c.T47G:p.V16G | nonsynonymous SNV | SO:0001583|missense_variant | 449059 | 1 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome not_specified |
10 | 3 | 127335872 | rs767499238(chr3-127335872-CtoT) | C | T | MCM2 | MCM2:NM_004526.4:exon10:c.C1684T:p.R562W | nonsynonymous SNV | '- | '- | 2 | . |
11 | 3 | 127325529 | rs558806976(chr3-127325529-AtoC) | A | C | MCM2 | MCM2:NM_004526.4:exon6:c.A970C:p.M324L | nonsynonymous SNV | '- | '- | 4 | . |
12 | 3 | 127325511 | rs772439652(chr3-127325511-GtoA) | G | A | MCM2 | MCM2:NM_004526.4:exon6:c.G952A:p.V318I | nonsynonymous SNV | '- | '- | 2 | . |
13 | 2 | 47600986 | rs749805135(chr2-47600986-GtoA) | G | A | EPCAM | EPCAM:NM_002354.2:exon3:c.G224A:p.G75D | nonsynonymous SNV | '- | '- | 2 | . |
14 | 2 | 39249895 | rs753055115(chr2-39249895-CtoT) | C | T | SOS1 | SOS1:NM_005633.3:exon10:c.G1674A:p.M558I | nonsynonymous SNV | '- | '- | 2 | . |
15 | 2 | 29416359 | rs563126725(chr2-29416359-TtoC) | T | C | ALK | ALK:NM_001353765.1:exon10:c.A1390G:p.N464D ALK:NM_004304.5:exon29:c.A4594G:p.N1532D | nonsynonymous SNV | '- | '- | 3 | . |
16 | 2 | 25523073 | rs779208522(chr2-25523073-GtoA) | G | A | DNMT3A | DNMT3A:NM_001320892.2:exon3:c.C112T:p.R38C DNMT3A:NM_022552.4:exon3:c.C112T:p.R38C DNMT3A:NM_175629.2:exon3:c.C112T:p.R38C DNMT3A:NM_175630.1:exon3:c.C112T:p.R38C | nonsynonymous SNV | '- | '- | 1 | . |
17 | 2 | 209113113 | rs121913499(chr2-209113113-GtoA) | G | A | IDH1 | IDH1:NM_001282386.1:exon4:c.C394T:p.R132C IDH1:NM_001282387.1:exon4:c.C394T:p.R132C IDH1:NM_005896.3:exon4:c.C394T:p.R132C | nonsynonymous SNV | SO:0001583|missense_variant | 375891 | 1 | Hepatocellular_carcinoma Medulloblastoma Acute_myeloid_leukemia Transitional_cell_carcinoma_of_the_bladder Multiple_myeloma Astrocytoma Brainstem_glioma Lung_adenocarcinoma Neoplasm_of_brain Neoplasm_of_the_breast Neoplasm_of_the_large_intestine Malignant_melanoma_of_skin Adenoid_cystic_carcinoma Glioblastoma Myelodysplastic_syndrome Adenocarcinoma_of_prostate |
18 | 2 | 209113112 | rs121913500(chr2-209113112-CtoT) | C | T | IDH1 | IDH1:NM_001282386.1:exon4:c.G395A:p.R132H IDH1:NM_001282387.1:exon4:c.G395A:p.R132H IDH1:NM_005896.3:exon4:c.G395A:p.R132H | nonsynonymous SNV | SO:0001583|missense_variant | 156444 | 1 | Hepatocellular_carcinoma Medulloblastoma Acute_myeloid_leukemia Transitional_cell_carcinoma_of_the_bladder Multiple_myeloma Astrocytoma Brainstem_glioma Lung_adenocarcinoma Neoplasm_of_brain Neoplasm_of_the_breast Neoplasm_of_the_large_intestine Malignant_melanoma_of_skin Adenoid_cystic_carcinoma Glioblastoma Myelodysplastic_syndrome Oligodendroglioma Adenocarcinoma_of_prostate Glioblastoma_multiforme,_somatic |
19 | 2 | 178096552 | rs776472261(chr2-178096552-GtoC) | G | C | NFE2L2 | NFE2L2:NM_001313902.1:exon4:c.C689G:p.T230R NFE2L2:NM_001145412.3:exon5:c.C731G:p.T244R NFE2L2:NM_001145413.3:exon5:c.C710G:p.T237R NFE2L2:NM_001313900.1:exon5:c.C731G:p.T244R NFE2L2:NM_001313901.1:exon5:c.C731G:p.T244R NFE2L2:NM_001313903.1:exon5:c.C560G:p.T187R NFE2L2:NM_001313904.1:exon5:c.C479G:p.T160R NFE2L2:NM_006164.5:exon5:c.C779G:p.T260R | nonsynonymous SNV | '- | '- | 4 | . |
20 | 19 | 17954586 | rs774202259(chr19-17954586-CtoT) | C | T | JAK3 | JAK3:NM_000215.3:exon3:c.G308A:p.R103H | nonsynonymous SNV | SO:0001583|missense_variant | 191102 | 1 | not_provided |
21 | 19 | 15297997 | rs754554486(chr19-15297997-GtoA) | G | A | NOTCH3 | NOTCH3:NM_000435.3:exon11:c.C1759T:p.R587C | nonsynonymous SNV | '- | '- | 2 | . |
22 | 19 | 15276717 | rs756939819(chr19-15276717-CtoT) | C | T | NOTCH3 | NOTCH3:NM_000435.3:exon30:c.G5548A:p.A1850T | nonsynonymous SNV | '- | '- | 3 | . |
23 | 19 | 15271819 | rs765739997(chr19-15271819-CtoT) | C | T | NOTCH3 | NOTCH3:NM_000435.3:exon33:c.G6620A:p.R2207Q | nonsynonymous SNV | '- | '- | 2 | . |
24 | 17 | 41226380 | rs273900737(chr17-41226380-GtoA) | G | A | BRCA1 | BRCA1:NM_007297.4:exon13:c.C4502T:p.T1501M BRCA1:NM_007298.3:exon13:c.C1331T:p.T444M BRCA1:NM_007294.3:exon14:c.C4643T:p.T1548M BRCA1:NM_007299.4:exon14:c.C1331T:p.T444M BRCA1:NM_007300.4:exon15:c.C4706T:p.T1569M | nonsynonymous SNV | SO:0001583|missense_variant | 55249 | 1 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_specified |
25 | 17 | 41219627 | rs80357034(chr17-41219627-GtoT) | G | T | BRCA1 | BRCA1:NM_007297.4:exon15:c.C4931A:p.T1644K BRCA1:NM_007298.3:exon15:c.C1760A:p.T587K BRCA1:NM_007294.3:exon16:c.C5072A:p.T1691K BRCA1:NM_007299.4:exon16:c.C1760A:p.T587K BRCA1:NM_007300.4:exon17:c.C5135A:p.T1712K | nonsynonymous SNV | SO:0001583|missense_variant | 37627 | 1 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
26 | 16 | 23647548 | rs752251774(chr16-23647548-AtoT) | A | T | PALB2 | PALB2:NM_024675.3:exon4:c.T319A:p.F107I | nonsynonymous SNV | SO:0001583|missense_variant | 460979 | 1 | Familial_cancer_of_breast |
27 | 16 | 23647430 | .(chr16-23647430-CtoT) | C | T | PALB2 | PALB2:NM_024675.3:exon4:c.G437A:p.R146K | nonsynonymous SNV | '- | '- | 1 | . |
28 | 1 | 45798452 | rs1553128813(chr1-45798452-GtoA) | G | A | MUTYH | MUTYH:NM_001350650.1:exon6:c.C130T:p.Q44X MUTYH:NM_001350651.1:exon6:c.C130T:p.Q44X MUTYH:NM_001048171.1:exon7:c.C517T:p.Q173X MUTYH:NM_001048172.1:exon7:c.C478T:p.Q160X MUTYH:NM_001048173.1:exon7:c.C475T:p.Q159X MUTYH:NM_001048174.1:exon7:c.C475T:p.Q159X MUTYH:NM_001128425.1:exon7:c.C559T:p.Q187X MUTYH:NM_001293190.1:exon7:c.C520T:p.Q174X MUTYH:NM_001293191.1:exon7:c.C508T:p.Q170X MUTYH:NM_001293192.1:exon7:c.C199T:p.Q67X MUTYH:NM_001293196.1:exon7:c.C199T:p.Q67X MUTYH:NM_012222.2:exon7:c.C550T:p.Q184X MUTYH:NM_001293195.1:exon8:c.C475T:p.Q159X | stopgain | SO:0001587|nonsense | 554017 | 1 | MYH-associated_polyposis |
29 | 1 | 45796895 | rs376790729(chr1-45796895-CtoA) | C | A | MUTYH | MUTYH:NM_001350650.1:exon13:c.G1006T:p.E336X MUTYH:NM_001350651.1:exon13:c.G1006T:p.E336X MUTYH:NM_001048171.1:exon14:c.G1393T:p.E465X MUTYH:NM_001048172.1:exon14:c.G1354T:p.E452X MUTYH:NM_001048173.1:exon14:c.G1351T:p.E451X MUTYH:NM_001048174.1:exon14:c.G1351T:p.E451X MUTYH:NM_001128425.1:exon14:c.G1435T:p.E479X MUTYH:NM_001293190.1:exon14:c.G1396T:p.E466X MUTYH:NM_001293191.1:exon14:c.G1384T:p.E462X MUTYH:NM_001293192.1:exon14:c.G1075T:p.E359X MUTYH:NM_001293196.1:exon14:c.G1075T:p.E359X MUTYH:NM_012222.2:exon14:c.G1426T:p.E476X MUTYH:NM_001293195.1:exon15:c.G1351T:p.E451X | stopgain | SO:0001587|nonsense | 238337 | 1 | Hereditary_cancer-predisposing_syndrome MYH-associated_polyposis MUTYH-associated_polyposis not_provided |
30 | 13 | 32972904 | .(chr13-32972904-CtoCT) | C | CT | BRCA2 | BRCA2:NM_000059.3:exon27:c.10254delinsCT | frameshift substitution | '- | '- | 1 | . |
31 | 13 | 32954037 | rs80359165(chr13-32954037-AtoC) | A | C | BRCA2 | BRCA2:NM_000059.3:exon23:c.A9104C:p.Y3035S | nonsynonymous SNV | SO:0001583|missense_variant | 38211 | 1 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_specified Breast_and/or_ovarian_cancer not_provided |
32 | 13 | 32932032 | .(chr13-32932032-AATGATGGAAtoAA) | AATGATGGAA | AA | BRCA2 | BRCA2:NM_000059.3:exon16:c.7771_7780AA | frameshift substitution | '- | '- | 1 | . |
33 | 13 | 32915214 | rs397507375(chr13-32915214-CAGtoC) | CAG | C | BRCA2 | BRCA2:NM_000059.3:exon11:c.6722_6724C | frameshift substitution | SO:0001589|frameshift_variant | 38062 | 1 | . |
34 | 13 | 32914815 | rs35029074(chr13-32914815-GtoA) | G | A | BRCA2 | BRCA2:NM_000059.3:exon11:c.G6323A:p.R2108H | nonsynonymous SNV | SO:0001583|missense_variant | 38037 | 2 | Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Fanconi_anemia Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_specified not_provided |
35 | 13 | 32912807 | rs80358666(chr13-32912807-GtoA) | G | A | BRCA2 | BRCA2:NM_000059.3:exon11:c.G4315A:p.A1439T | nonsynonymous SNV | SO:0001583|missense_variant | 51630 | 1 | Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
36 | 13 | 32903575 | rs431825341(chr13-32903575-TACtoT) | TAC | T | BRCA2 | NC_000013.11:g.32329440_32329441del NC_000013.10:g.32903577_32903578del NG_012772.3:g.18961_18962del | splicing | SO:0001574|splice_acceptor_variant | 96837 | 1 | . |
37 | 13 | 32890660 | rs1280004443(chr13-32890660-AtoG) | A | G | BRCA2 | BRCA2:NM_000059.3:exon2:c.A63G:p.K21K | synonymous SNV | SO:0001819|synonymous_variant | 438997 | 1 | Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome not_specified |
38 | 12 | 56495414 | rs758455948(chr12-56495414-CtoT) | C | T | ERBB3 | ERBB3:NM_001982.3:exon28:c.C3604T:p.R1202W | nonsynonymous SNV | '- | '- | 5 | . |
39 | 12 | 56488334 | rs757518347(chr12-56488334-CtoT) | C | T | ERBB3 | ERBB3:NM_001982.3:exon15:c.C1853T:p.T618I | nonsynonymous SNV | '- | '- | 3 | . |
40 | 12 | 56482362 | rs768226214(chr12-56482362-GtoT) | G | T | ERBB3 | ERBB3:NM_001982.3:exon8:c.G910T:p.A304S | nonsynonymous SNV | '- | '- | 3 | . |
41 | 12 | 12871044 | rs769828807(chr12-12871044-CtoA) | C | A | CDKN1B | CDKN1B:NM_004064.4:exon1:c.C271A:p.P91T | nonsynonymous SNV | SO:0001583|missense_variant | 469011 | 3 | Multiple_endocrine_neoplasia,_type_4 |
42 | 1 | 156845441 | rs762948862(chr1-156845441-AtoG) | A | G | NTRK1 | NTRK1:NM_001012331.1:exon11:c.A1466G:p.Q489R NTRK1:NM_001007792.1:exon12:c.A1376G:p.Q459R NTRK1:NM_002529.3:exon12:c.A1484G:p.Q495R | nonsynonymous SNV | '- | '- | 2 | . |
43 | 1 | 156816322 | rs750122799(chr1-156816322-GtoT) | G | T | INSRR | INSRR:NM_014215.3:exon8:c.C1799A:p.T600K | nonsynonymous SNV | '- | '- | 2 | . |
44 | 11 | 108139232 | rs764409952(chr11-108139232-CtoG) | C | G | ATM | ATM:NM_000051.3:exon18:c.C2734G:p.Q912E ATM:NM_001351834.2:exon19:c.C2734G:p.Q912E | nonsynonymous SNV | '- | '- | 1 | . |
45 | 11 | 108139218 | rs775371838(chr11-108139218-GtoT) | G | T | ATM | ATM:NM_000051.3:exon18:c.G2720T:p.C907F ATM:NM_001351834.2:exon19:c.G2720T:p.C907F | nonsynonymous SNV | SO:0001583|missense_variant | 185390 | 2 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome |
46 | 11 | 108122640 | .(chr11-108122640-AtoG) | A | G | ATM | ATM:NM_000051.3:exon11:c.A1684G:p.N562D ATM:NM_001351834.2:exon12:c.A1684G:p.N562D | nonsynonymous SNV | '- | '- | 1 | . |
47 | 11 | 108117798 | rs138398778(chr11-108117798-CtoT) | C | T | ATM | ATM:NM_000051.3:exon8:c.C1009T:p.R337C ATM:NM_001351834.2:exon9:c.C1009T:p.R337C | nonsynonymous SNV | SO:0001583|missense_variant | 127327 | 1 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
48 | 11 | 108100042 | rs766951228(chr11-108100042-CtoG) | C | G | ATM | ATM:NM_000051.3:exon4:c.C323G:p.A108G ATM:NM_001351835.1:exon4:c.C323G:p.A108G ATM:NM_001351836.1:exon4:c.C323G:p.A108G ATM:NM_001351834.2:exon5:c.C323G:p.A108G | nonsynonymous SNV | SO:0001583|missense_variant | 407641 | 1 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome |
49 | 10 | 90700985 | rs112687898(chr10-90700985-CtoG) | C | G | ACTA2 | NM_001320855.1:exon6:c.616+1G>C;NM_001613.4:exon6:c.616+1G>C;NM_001141945.2:exon6:c.616+1G>rs112687898 | splicing | '- | '- | 4 | . |
50 | 6 | 43581918 | rs121908565(chr6-43581918-AtoC) | A | C | POLH | POLH:NM_001291969:exon9:c.A1394C:p.K465T POLH:NM_006502:exon11:c.A1766C:p.K589T | nonsynonymous SNV | SO:0001583|missense_variant SO:0001624|3_prime_UTR_variant | 5895 | 1 | Xeroderma_pigmentosum,_variant_type |
51 | 3 | 165547750 | rs121918557(chr3-165547750-AtoT) | A | T | BCHE | BCHE:NM_000055:exon2:c.T1072A:p.L358I | nonsynonymous SNV | SO:0001583|missense_variant SO:0001627|intron_variant | 13226 | 1 | Deficiency_of_butyrylcholine_esterase Butyrylcholinesterase_deficiency,_fluoride-resistant,_japanese_type |
52 | 12 | 112888193 | rs397516801(chr12-112888193-AtoG) | A | G | PTPN11 | PTPN11:NM_001330437:exon3:c.A209G:p.K70R PTPN11:NM_002834:exon3:c.A209G:p.K70R PTPN11:NM_080601:exon3:c.A209G:p.K70R | nonsynonymous SNV | SO:0001583|missense_variant | 44603 | 1 | Noonan_syndrome Rasopathy not_provided |
53 | 17 | 7577575 | rs587782289(chr17-7577575-AtoC) | A | C | TP53 | TP53:NM_001126115:exon3:c.T310G:p.Y104D TP53:NM_001126116:exon3:c.T310G:p.Y104D TP53:NM_001126117:exon3:c.T310G:p.Y104D TP53:NM_001276697:exon3:c.T229G:p.Y77D TP53:NM_001276698:exon3:c.T229G:p.Y77D TP53:NM_001276699:exon3:c.T229G:p.Y77D TP53:NM_001126118:exon6:c.T589G:p.Y197D TP53:NM_000546:exon7:c.T706G:p.Y236D TP53:NM_001126112:exon7:c.T706G:p.Y236D TP53:NM_001126113:exon7:c.T706G:p.Y236D TP53:NM_001126114:exon7:c.T706G:p.Y236D TP53:NM_001276695:exon7:c.T589G:p.Y197D TP53:NM_001276696:exon7:c.T589G:p.Y197D TP53:NM_001276760:exon7:c.T589G:p.Y197D TP53:NM_001276761:exon7:c.T589G:p.Y197D | nonsynonymous SNV | SO:0001583|missense_variant | 142183 | 1 | Pancreatic_adenocarcinoma Squamous_cell_carcinoma_of_the_skin Lung_adenocarcinoma Squamous_cell_lung_carcinoma Neoplasm_of_brain Neoplasm_of_the_breast Neoplasm_of_the_large_intestine Squamous_cell_carcinoma_of_the_head_and_neck Adenocarcinoma_of_prostate Hereditary_cancer-predisposing_syndrome Adenocarcinoma_of_stomach Ovarian_Serous_Cystadenocarcinoma |
54 | 13 | 52515330 | rs60431989(chr13-52515330-AtoG) | A | G | ATP7B | ATP7B:NM_001005918:exon12:c.T2822C:p.I941T ATP7B:NM_001330579:exon14:c.T3191C:p.I1064T ATP7B:NM_001330578:exon15:c.T3209C:p.I1070T ATP7B:NM_000053:exon16:c.T3443C:p.I1148T ATP7B:NM_001243182:exon17:c.T3110C:p.I1037T | nonsynonymous SNV | SO:0001583|missense_variant | 37122 | 2 | . |
55 | 11 | 64367222 | rs765990518(chr11-64367222-AtoT) | A | T | SLC22A12 | SLC22A12:NM_001276327:exon5:c.A821T:p.Q274L SLC22A12:NM_001276326:exon7:c.A1043T:p.Q348L SLC22A12:NM_144585:exon7:c.A1145T:p.Q382L SLC22A12:NM_153378:exon7:c.A482T:p.Q161L | nonsynonymous SNV | SO:0001583|missense_variant | 305239 | 3 | Familial_renal_hypouricemia |
56 | 13 | 32907014 | rs80358427(chr13-32907014-AtoT) | A | T | BRCA2 | BRCA2:NM_000059:exon10:c.A1399T:p.K467X | stopgain | SO:0001587|nonsense | 51118 | 1 | Neoplasm_of_the_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
57 | 15 | 73617719 | rs104894485(chr15-73617719-CtoT) | C | T | HCN4 | HCN4:NM_005477:exon5:c.G1657A:p.D553N | nonsynonymous SNV | SO:0001583|missense_variant | 5175 | 1 | Sick_sinus_syndrome_2,_autosomal_dominant |
58 | X | 100658972 | rs104894833(chrX-100658972-CtoG) | C | G | GLA | GLA:NM_000169:exon2:c.G196C:p.E66Q | nonsynonymous SNV | SO:0001583|missense_variant | 163548 | 3 | . |
59 | 17 | 7577085 | rs112431538(chr17-7577085-CtoT) | C | T | TP53 | TP53:NM_001126115:exon4:c.G457A:p.E153K TP53:NM_001126116:exon4:c.G457A:p.E153K TP53:NM_001126117:exon4:c.G457A:p.E153K TP53:NM_001276697:exon4:c.G376A:p.E126K TP53:NM_001276698:exon4:c.G376A:p.E126K TP53:NM_001276699:exon4:c.G376A:p.E126K TP53:NM_001126118:exon7:c.G736A:p.E246K TP53:NM_000546:exon8:c.G853A:p.E285K TP53:NM_001126112:exon8:c.G853A:p.E285K TP53:NM_001126113:exon8:c.G853A:p.E285K TP53:NM_001126114:exon8:c.G853A:p.E285K TP53:NM_001276695:exon8:c.G736A:p.E246K TP53:NM_001276696:exon8:c.G736A:p.E246K TP53:NM_001276760:exon8:c.G736A:p.E246K TP53:NM_001276761:exon8:c.G736A:p.E246K | nonsynonymous SNV | SO:0001583|missense_variant | 420133 | 1 | Hereditary_cancer-predisposing_syndrome Li-Fraumeni_syndrome PARP_Inhibitor_response not_provided |
60 | 12 | 25398281 | rs112445441(chr12-25398281-CtoT) | C | T | KRAS | KRAS:NM_004985:exon2:c.G38A:p.G13D KRAS:NM_033360:exon2:c.G38A:p.G13D | nonsynonymous SNV | SO:0001583|missense_variant | 12580 | 1 | Acute_myeloid_leukemia Juvenile_myelomonocytic_leukemia Non-small_cell_lung_cancer Neoplasm_of_the_thyroid_gland Neoplasm_of_the_large_intestine Ovarian_Neoplasms Breast_adenocarcinoma RAS-associated_autoimmune_leukoproliferative_disorder |
61 | X | 148585007 | rs113993949(chrX-148585007-CtoT) | C | T | IDS | IDS:NM_000202:exon3:c.G253A:p.A85T IDS:NM_006123:exon3:c.G253A:p.A85T | nonsynonymous SNV | SO:0001583|missense_variant SO:0001627|intron_variant | 92617 | 2 | Mucopolysaccharidosis,_MPS-II |
62 | 17 | 7577538 | rs11540652(chr17-7577538-CtoT) | C | T | TP53 | TP53:NM_001126115:exon3:c.G347A:p.R116Q TP53:NM_001126116:exon3:c.G347A:p.R116Q TP53:NM_001126117:exon3:c.G347A:p.R116Q TP53:NM_001276697:exon3:c.G266A:p.R89Q TP53:NM_001276698:exon3:c.G266A:p.R89Q TP53:NM_001276699:exon3:c.G266A:p.R89Q TP53:NM_001126118:exon6:c.G626A:p.R209Q TP53:NM_000546:exon7:c.G743A:p.R248Q TP53:NM_001126112:exon7:c.G743A:p.R248Q TP53:NM_001126113:exon7:c.G743A:p.R248Q TP53:NM_001126114:exon7:c.G743A:p.R248Q TP53:NM_001276695:exon7:c.G626A:p.R209Q TP53:NM_001276696:exon7:c.G626A:p.R209Q TP53:NM_001276760:exon7:c.G626A:p.R209Q TP53:NM_001276761:exon7:c.G626A:p.R209Q | nonsynonymous SNV | SO:0001583|missense_variant | 12356 | 1 | Li-Fraumeni_syndrome_1 Hepatocellular_carcinoma Neoplasm Medulloblastoma Acute_myeloid_leukemia Chronic_lymphocytic_leukemia Pancreatic_adenocarcinoma Squamous_cell_carcinoma_of_the_skin Transitional_cell_carcinoma_of_the_bladder Multiple_myeloma Brainstem_glioma Carcinoma_of_esophagus Lung_adenocarcinoma Small_cell_lung_cancer Squamous_cell_lung_carcinoma Neoplasm_of_brain Neoplasm_of_the_breast Sarcoma Neoplasm_of_the_large_intestine Squamous_cell_carcinoma_of_the_head_and_neck Malignant_melanoma_of_skin Glioblastoma Myelodysplastic_syndrome Adenocarcinoma_of_prostate Hereditary_cancer-predisposing_syndrome Li-Fraumeni_syndrome Malignant_neoplasm_of_body_of_uterus Adenocarcinoma_of_stomach Ovarian_Serous_Cystadenocarcinoma Uterine_Carcinosarcoma Malignant_Colorectal_Neoplasm not_provided |
63 | 17 | 78087149 | rs121907938(chr17-78087149-CtoT) | C | T | GAA | GAA:NM_000152:exon15:c.C2173T:p.R725W GAA:NM_001079804:exon15:c.C2173T:p.R725W GAA:NM_001079803:exon16:c.C2173T:p.R725W | nonsynonymous SNV | SO:0001583|missense_variant | 4024 | 1 | Glycogen_storage_disease,_type_II Glycogen_storage_disease_II,_adult_form |
64 | 19 | 11223983 | rs121908043(chr19-11223983-CtoT) | C | T | LDLR | LDLR:NM_001195800:exon7:c.C712T:p.R238W LDLR:NM_001195799:exon8:c.C1093T:p.R365W LDLR:NM_001195803:exon8:c.C835T:p.R279W LDLR:NM_000527:exon9:c.C1216T:p.R406W LDLR:NM_001195798:exon9:c.C1216T:p.R406W | nonsynonymous SNV | SO:0001583|missense_variant | 226351 | 1 | Familial_hypercholesterolemia |
65 | 2 | 241814542 | rs121908526(chr2-241814542-CtoT) | C | T | AGXT | AGXT:NM_000030:exon7:c.C697T:p.R233C | nonsynonymous SNV | SO:0001583|missense_variant | 5647 | 1 | Primary_hyperoxaluria,_type_I |
66 | 3 | 41266137 | rs121913409(chr3-41266137-CtoT) | C | T | CTNNB1 | CTNNB1:NM_001098209:exon3:c.C134T:p.S45F CTNNB1:NM_001098210:exon3:c.C134T:p.S45F CTNNB1:NM_001904:exon3:c.C134T:p.S45F CTNNB1:NM_001330729:exon4:c.C113T:p.S38F | nonsynonymous SNV | SO:0001583|missense_variant | 17588 | 1 | Hepatocellular_carcinoma Transitional_cell_carcinoma_of_the_bladder Adrenocortical_carcinoma Cutaneous_melanoma Lung_adenocarcinoma Neoplasm_of_the_large_intestine Malignant_melanoma_of_skin Disease Adenocarcinoma_of_prostate Malignant_neoplasm_of_body_of_uterus Wilms_Tumor |
67 | 12 | 25398284 | rs121913529(chr12-25398284-CtoA) | C | A | KRAS | KRAS:NM_004985:exon2:c.G35T:p.G12V KRAS:NM_033360:exon2:c.G35T:p.G12V | nonsynonymous SNV | SO:0001583|missense_variant | 12583 | 1 | Cerebral_arteriovenous_malformation Acute_myeloid_leukemia Nevus_sebaceous Juvenile_myelomonocytic_leukemia Non-small_cell_lung_cancer Neoplasm_of_the_thyroid_gland Neoplasm_of_the_large_intestine Carcinoma_of_pancreas Ovarian_Neoplasms not_provided |
68 | 4 | 655977 | rs121918581(chr4-655977-CtoT) | C | T | PDE6B | PDE6B:NM_001350155:exon9:c.C514T:p.H172Y PDE6B:NM_001145292:exon11:c.C832T:p.H278Y PDE6B:NM_001350154:exon11:c.C832T:p.H278Y PDE6B:NM_000283:exon13:c.C1669T:p.H557Y PDE6B:NM_001145291:exon13:c.C1669T:p.H557Y | nonsynonymous SNV | SO:0001583|missense_variant | 13106 | 2 | Retinitis_pigmentosa Retinitis_pigmentosa_40 |
69 | 9 | 6554768 | rs121964980(chr9-6554768-CtoT) | C | T | GLDC | GLDC:NM_000170:exon19:c.G2216A:p.R739H | nonsynonymous SNV | SO:0001583|missense_variant | 11990 | 1 | Non-ketotic_hyperglycinemia |
70 | 9 | 139262240 | rs149712114(chr9-139262240-CtoG) | C | G | CARD9 | CARD9:NM_052813:exon8:c.G1118C:p.R373P CARD9:NM_052814:exon8:c.G1118C:p.R373P | nonsynonymous SNV | SO:0001583|missense_variant | 88851 | 1 | Candidiasis,_familial,_2 |
71 | 14 | 50769619 | rs150299874(chr14-50769619-CtoT) | C | T | L2HGDH | . | . | SO:0001575|splice_donor_variant | 379781 | 1 | not_provided |
72 | 3 | 30713741 | rs199660234(chr3-30713741-CtoG) | C | G | TGFBR2 | TGFBR2:NM_003242:exon4:c.C1066G:p.R356G TGFBR2:NM_001024847:exon5:c.C1141G:p.R381G | nonsynonymous SNV | SO:0001583|missense_variant | 213920 | 1 | not_provided |
73 | 3 | 49940126 | rs200046052(chr3-49940126-CtoT) | C | T | MST1R | MST1R:NM_001244937:exon1:c.G917A:p.R306H MST1R:NM_001318913:exon1:c.G917A:p.R306H MST1R:NM_002447:exon1:c.G917A:p.R306H | nonsynonymous SNV | SO:0001583|missense_variant | 253185 | 2 | Nasopharyngeal_carcinoma,_susceptibility_to,_3 |
74 | 18 | 28972163 | rs267606777(chr18-28972163-CtoT) | C | T | DSG4 | DSG4:NM_001134453:exon8:c.C865T:p.R289X DSG4:NM_177986:exon8:c.C865T:p.R289X | stopgain | SO:0001587|nonsense | 2726 | 1 | Hypotrichosis_6 |
75 | 17 | 7578406 | rs28934578(chr17-7578406-CtoT) | C | T | TP53 | TP53:NM_001126115:exon1:c.G128A:p.R43H TP53:NM_001126116:exon1:c.G128A:p.R43H TP53:NM_001126117:exon1:c.G128A:p.R43H TP53:NM_001276697:exon1:c.G47A:p.R16H TP53:NM_001276698:exon1:c.G47A:p.R16H TP53:NM_001276699:exon1:c.G47A:p.R16H TP53:NM_001126118:exon4:c.G407A:p.R136H TP53:NM_000546:exon5:c.G524A:p.R175H TP53:NM_001126112:exon5:c.G524A:p.R175H TP53:NM_001126113:exon5:c.G524A:p.R175H TP53:NM_001126114:exon5:c.G524A:p.R175H TP53:NM_001276695:exon5:c.G407A:p.R136H TP53:NM_001276696:exon5:c.G407A:p.R136H TP53:NM_001276760:exon5:c.G407A:p.R136H TP53:NM_001276761:exon5:c.G407A:p.R136H | nonsynonymous SNV | SO:0001583|missense_variant | 12374 | 1 | Li-Fraumeni_syndrome_1 Neoplasm Neoplasm_of_the_breast Hereditary_cancer-predisposing_syndrome Li-Fraumeni_syndrome Malignant_tumor_of_esophagus not_provided |
76 | 6 | 5771526 | rs372054960(chr6-5771526-CtoT) | C | T | FARS2 | FARS2:NM_001318872:exon7:c.C1220T:p.T407M FARS2:NM_006567:exon7:c.C1220T:p.T407M | nonsynonymous SNV | SO:0001583|missense_variant | 214331 | 3 | Combined_oxidative_phosphorylation_deficiency_14 not_provided |
77 | 3 | 48616674 | rs374718902(chr3-48616674-CtoT) | C | T | COL7A1 | COL7A1:NM_000094:exon61:c.G5344A:p.G1782R | nonsynonymous SNV | SO:0001583|missense_variant | 372339 | 1 | not_provided |
78 | 3 | 127318284 | rs375851208(chr3-127318284-CtoT) | C | T | MCM2 | MCM2:NM_004526:exon2:c.C130T:p.R44C | nonsynonymous SNV | SO:0001583|missense_variant | 235129 | 4 | Deafness,_autosomal_dominant_70 |
79 | 12 | 112926872 | rs397507541(chr12-112926872-CtoT) | C | T | PTPN11 | PTPN11:NM_001330437:exon13:c.C1504T:p.R502W PTPN11:NM_002834:exon13:c.C1492T:p.R498W | nonsynonymous SNV | SO:0001583|missense_variant | 40553 | 1 | Inborn_genetic_diseases Noonan_syndrome_1 LEOPARD_syndrome_1 Rasopathy not_provided |
80 | 13 | 32972800 | rs397507568(chr13-32972800-CtoT) | C | T | BRCA2 | BRCA2:NM_000059:exon27:c.C10150T:p.R3384X | stopgain | SO:0001587|nonsense | 51049 | 2 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Cancer_of_the_pancreas Breast-ovarian_cancer,_familial_2 not_specified |
81 | 2 | 212288966 | rs397514262(chr2-212288966-CtoT) | C | T | ERBB4 | ERBB4:NM_001042599:exon23:c.G2780A:p.R927Q ERBB4:NM_005235:exon23:c.G2780A:p.R927Q | nonsynonymous SNV | SO:0001583|missense_variant | 64625 | 1 | Amyotrophic_lateral_sclerosis_19 not_provided |
82 | 5 | 112128191 | rs397515734(chr5-112128191-CtoT) | C | T | APC | APC:NM_000038:exon7:c.C694T:p.R232X APC:NM_001127510:exon8:c.C694T:p.R232X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 42248 | 1 | Hereditary_cancer-predisposing_syndrome Familial_adenomatous_polyposis_1 Familial_adenomatous_polyposis not_provided |
83 | 12 | 103234270 | rs5030859(chr12-103234270-CtoT) | C | T | PAH | PAH:NM_000277:exon12:c.G1223A:p.R408Q | nonsynonymous SNV | SO:0001583|missense_variant | 612 | 1 | Phenylketonuria not_provided |
84 | 22 | 51065134 | rs74315471(chr22-51065134-CtoT) | C | T | ARSA | ARSA:NM_000487:exon4:c.G739A:p.G247R ARSA:NM_001085428:exon4:c.G481A:p.G161R ARSA:NM_001085425:exon5:c.G739A:p.G247R ARSA:NM_001085426:exon5:c.G739A:p.G247R ARSA:NM_001085427:exon5:c.G739A:p.G247R | nonsynonymous SNV | SO:0001583|missense_variant | 3074 | 2 | Metachromatic_leukodystrophy Metachromatic_leukodystrophy,_severe not_provided |
85 | 11 | 108137985 | rs758081262(chr11-108137985-CtoT) | C | T | ATM | ATM:NM_000051:exon17:c.C2554T:p.Q852X | stopgain | SO:0001587|nonsense | 407450 | 1 | Ataxia-telangiectasia_syndrome |
86 | 6 | 43572374 | rs759607901(chr6-43572374-CtoT) | C | T | POLH | POLH:NM_001291969:exon6:c.C535T:p.R179X POLH:NM_001291970:exon8:c.C907T:p.R303X POLH:NM_006502:exon8:c.C907T:p.R303X | stopgain | SO:0001587|nonsense | 224063 | 2 | Xeroderma_pigmentosum,_variant_type |
87 | 3 | 49934783 | rs763246446(chr3-49934783-CtoT) | C | T | MST1R | MST1R:NM_001318913:exon5:c.G1795A:p.E599K MST1R:NM_001244937:exon7:c.G2113A:p.E705K MST1R:NM_002447:exon7:c.G2113A:p.E705K | nonsynonymous SNV | '- | '- | 1 | . |
88 | 5 | 131939047 | rs765975825(chr5-131939047-CtoT) | C | T | RAD50 | RAD50:NM_005732:exon14:c.C2263T:p.Q755X | stopgain | SO:0001587|nonsense | 480435 | 1 | Hereditary_cancer-predisposing_syndrome |
89 | 5 | 13753598 | rs769458738(chr5-13753598-CtoT) | C | T | DNAH5 | DNAH5:NM_001369:exon63:c.G10616A:p.R3539H | nonsynonymous SNV | SO:0001583|missense_variant | 216542 | 1 | Ciliary_dyskinesia |
90 | 11 | 108235935 | rs770641163(chr11-108235935-CtoT) | C | T | ATM | ATM:NM_000051:exon62:c.C8977T:p.R2993X | stopgain | SO:0001587|nonsense | 186330 | 1 | Hereditary_breast_and_ovarian_cancer_syndrome Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome Familial_cancer_of_breast not_provided |
91 | 3 | 49933193 | rs773053723(chr3-49933193-CtoT) | C | T | MST1R | MST1R:NM_001318913:exon10:c.G2599A:p.A867T MST1R:NM_001244937:exon11:c.G2770A:p.A924T MST1R:NM_002447:exon12:c.G2917A:p.A973T | nonsynonymous SNV | '- | '- | 2 | . |
92 | 13 | 100915068 | rs774738181(chr13-100915068-CtoT) | C | T | PCCA | PCCA:NM_001127692:exon9:c.C724T:p.R242C PCCA:NM_000282:exon10:c.C802T:p.R268C PCCA:NM_001178004:exon10:c.C802T:p.R268C | nonsynonymous SNV | SO:0001583|missense_variant | 289402 | 1 | Propionyl-CoA_carboxylase_deficiency not_provided |
93 | 8 | 30982072 | rs774765029(chr8-30982072-CtoT) | C | T | WRN | WRN:NM_000553:exon22:c.C2665T:p.R889X | stopgain | SO:0001587|nonsense | 404045 | 1 | Werner_syndrome |
94 | 5 | 131973850 | rs778555849(chr5-131973850-CtoT) | C | T | RAD50 | RAD50:NM_005732:exon23:c.C3553T:p.R1185X | stopgain | SO:0001587|nonsense | 216097 | 1 | Hereditary_cancer-predisposing_syndrome not_provided |
95 | 1 | 100327076 | rs781580050(chr1-100327076-CtoT) | C | T | AGL | AGL:NM_000028:exon3:c.C100T:p.R34X AGL:NM_000642:exon3:c.C100T:p.R34X AGL:NM_000643:exon3:c.C100T:p.R34X AGL:NM_000644:exon3:c.C100T:p.R34X AGL:NM_000646:exon3:c.C52T:p.R18X | stopgain | SO:0001587|nonsense | 188743 | 2 | Glycogen_storage_disease_type_III |
96 | 7 | 95751309 | rs80338724(chr7-95751309-CtoT) | C | T | SLC25A13 | SLC25A13:NM_001160210:exon16:c.G1595A:p.G532D SLC25A13:NM_014251:exon16:c.G1592A:p.G531D | nonsynonymous SNV | SO:0001583|missense_variant | 21509 | 1 | Neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency |
97 | 13 | 32914148 | rs80358790(chr13-32914148-CtoT) | C | T | BRCA2 | BRCA2:NM_000059:exon11:c.C5656T:p.Q1886X | stopgain | SO:0001587|nonsense | 51900 | 1 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 Breast_and/or_ovarian_cancer not_provided |
98 | 13 | 32930609 | rs80358972(chr13-32930609-CtoT) | C | T | BRCA2 | BRCA2:NM_000059:exon15:c.C7480T:p.R2494X | stopgain | SO:0001587|nonsense | 38099 | 2 | Tracheoesophageal_fistula Medulloblastoma Malignant_tumor_of_prostate Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Familial_cancer_of_breast Fanconi_anemia,_complementation_group_D1 Breast-ovarian_cancer,_familial_2 Glioma_susceptibility_3 Pancreatic_cancer_2 Wilms_tumor_1 not_provided |
99 | 3 | 178936091 | rs104886003(chr3-178936091-GtoA) | G | A | PIK3CA | PIK3CA:NM_006218:exon10:c.G1633A:p.E545K | nonsynonymous SNV | SO:0001583|missense_variant | 13655 | 1 | Hepatocellular_carcinoma Renal_cell_carcinoma,_papillary,_1 Pancreatic_adenocarcinoma Transitional_cell_carcinoma_of_the_bladder Neoplasm_of_stomach Brainstem_glioma Carcinoma_of_esophagus Lung_adenocarcinoma Small_cell_lung_cancer Non-small_cell_lung_cancer Squamous_cell_lung_carcinoma Neoplasm_of_brain Neoplasm_of_the_breast Sarcoma Neoplasm_of_the_large_intestine Squamous_cell_carcinoma_of_the_head_and_neck Papillary_renal_cell_carcinoma,_sporadic Malignant_melanoma_of_skin Uterine_cervical_neoplasms Glioblastoma Nasopharyngeal_Neoplasms Ovarian_Neoplasms Adenocarcinoma_of_prostate Keratosis,_seborrheic Malignant_neoplasm_of_body_of_uterus Carcinoma_of_gallbladder Adenocarcinoma_of_stomach Ovarian_Serous_Cystadenocarcinoma Uterine_Carcinosarcoma Ovarian_epithelial_cancer Carcinoma_of_colon Breast_adenocarcinoma Megalencephaly_cutis_marmorata_telangiectatica_congenita |
100 | 9 | 34649500 | rs111033808(chr9-34649500-GtoA) | G | A | GALT | GALT:NM_001258332:exon8:c.G671A:p.R224Q GALT:NM_000155:exon10:c.G998A:p.R333Q | nonsynonymous SNV | SO:0001583|missense_variant | 38288 | 1 | Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase |
101 | 2 | 219679132 | rs121908099(chr2-219679132-GtoA) | G | A | CYP27A1 | CYP27A1:NM_000784:exon7:c.G1214A:p.R405Q | nonsynonymous SNV | SO:0001583|missense_variant | 4260 | 3 | Cholestanol_storage_disease not_provided |
102 | 9 | 133364851 | rs121908639(chr9-133364851-GtoA) | G | A | ASS1 | ASS1:NM_054012:exon12:c.G970A:p.G324S ASS1:NM_000050:exon13:c.G970A:p.G324S | nonsynonymous SNV | SO:0001583|missense_variant | 6327 | 1 | Citrullinemia_type_I |
103 | 21 | 33039620 | rs121912459(chr21-33039620-GtoA) | G | A | SOD1 | SOD1:NM_000454:exon4:c.G289A:p.D97N | nonsynonymous SNV | SO:0001583|missense_variant | 14783 | 1 | Amyotrophic_lateral_sclerosis_1,_autosomal_recessive |
104 | 15 | 41011016 | rs121917739(chr15-41011016-GtoA) | G | A | RAD51 | RAD51:NM_001164269:exon6:c.G452A:p.R151Q RAD51:NM_001164270:exon6:c.G449A:p.R150Q RAD51:NM_002875:exon6:c.G449A:p.R150Q RAD51:NM_133487:exon6:c.G452A:p.R151Q | nonsynonymous SNV | SO:0001583|missense_variant | 13127 | 3 | Familial_cancer_of_breast |
105 | 17 | 78090815 | rs1800312(chr17-78090815-GtoC) | G | C | GAA | GAA:NM_000152:exon16:c.G2238C:p.W746C GAA:NM_001079804:exon16:c.G2238C:p.W746C GAA:NM_001079803:exon17:c.G2238C:p.W746C | nonsynonymous SNV | SO:0001583|missense_variant | 265160 | 2 | Glycogen_storage_disease,_type_II not_specified not_provided |
106 | 2 | 71797430 | rs28937581(chr2-71797430-GtoT) | G | T | DYSF | DYSF:NM_001130976:exon27:c.G2955T:p.W985C DYSF:NM_001130977:exon27:c.G2955T:p.W985C DYSF:NM_001130984:exon27:c.G2958T:p.W986C DYSF:NM_001130986:exon27:c.G2958T:p.W986C DYSF:NM_001130455:exon28:c.G3000T:p.W1000C DYSF:NM_001130978:exon28:c.G2997T:p.W999C DYSF:NM_001130980:exon28:c.G3048T:p.W1016C DYSF:NM_001130981:exon28:c.G3048T:p.W1016C DYSF:NM_001130983:exon28:c.G3000T:p.W1000C DYSF:NM_001130985:exon28:c.G3051T:p.W1017C DYSF:NM_001130987:exon28:c.G3051T:p.W1017C DYSF:NM_003494:exon28:c.G2997T:p.W999C DYSF:NM_001130979:exon29:c.G3090T:p.W1030C DYSF:NM_001130982:exon29:c.G3093T:p.W1031C | nonsynonymous SNV | SO:0001583|missense_variant | 6674 | 2 | Miyoshi_muscular_dystrophy_1 Limb-girdle_muscular_dystrophy,_type_2B |
107 | 7 | 130038776 | rs371812716(chr7-130038776-GtoA) | G | A | CEP41 | CEP41:NM_001257159:exon9:c.C814T:p.R272C CEP41:NM_001257158:exon10:c.C862T:p.R288C CEP41:NM_018718:exon11:c.C1078T:p.R360C | nonsynonymous SNV | SO:0001583|missense_variant | 30843 | 1 | Joubert_syndrome_9/15,_digenic |
108 | 18 | 48591919 | rs377767347(chr18-48591919-GtoT) | G | T | SMAD4 | SMAD4:NM_005359:exon9:c.G1082T:p.R361L | nonsynonymous SNV | SO:0001583|missense_variant | 24833 | 1 | Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome |
109 | 16 | 31196352 | rs387906628(chr16-31196352-GtoA) | G | A | FUS | FUS:NM_001170634:exon6:c.G613A:p.G205S FUS:NM_001170937:exon6:c.G604A:p.G202S FUS:NM_004960:exon6:c.G616A:p.G206S | nonsynonymous SNV | SO:0001583|missense_variant | 29708 | 3 | Amyotrophic_lateral_sclerosis_type_6 |
110 | 13 | 32945092 | rs397507404(chr13-32945092-GtoA) | G | A | BRCA2 | . | . | SO:0001574|splice_acceptor_variant | 38164 | 1 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_D1 Breast-ovarian_cancer,_familial_2 not_provided |
111 | 2 | 219679182 | rs397515355(chr2-219679182-GtoA) | G | A | CYP27A1 | . | . | SO:0001575|splice_donor_variant | 4262 | 1 | Cholestanol_storage_disease not_provided |
112 | 17 | 7578263 | rs397516435(chr17-7578263-GtoA) | G | A | TP53 | TP53:NM_001126115:exon2:c.C190T:p.R64X TP53:NM_001126116:exon2:c.C190T:p.R64X TP53:NM_001126117:exon2:c.C190T:p.R64X TP53:NM_001276697:exon2:c.C109T:p.R37X TP53:NM_001276698:exon2:c.C109T:p.R37X TP53:NM_001276699:exon2:c.C109T:p.R37X TP53:NM_001126118:exon5:c.C469T:p.R157X TP53:NM_000546:exon6:c.C586T:p.R196X TP53:NM_001126112:exon6:c.C586T:p.R196X TP53:NM_001126113:exon6:c.C586T:p.R196X TP53:NM_001126114:exon6:c.C586T:p.R196X TP53:NM_001276695:exon6:c.C469T:p.R157X TP53:NM_001276696:exon6:c.C469T:p.R157X TP53:NM_001276760:exon6:c.C469T:p.R157X TP53:NM_001276761:exon6:c.C469T:p.R157X | stopgain | SO:0001587|nonsense | 43589 | 1 | Hereditary_cancer-predisposing_syndrome Li-Fraumeni_syndrome not_specified not_provided |
113 | 9 | 35740830 | rs398123014(chr9-35740830-GtoA) | G | A | GBA2 | GBA2:NM_001330660:exon5:c.C1018T:p.R340X GBA2:NM_020944:exon5:c.C1018T:p.R340X | stopgain | SO:0001587|nonsense | 41489 | 1 | Spastic_paraplegia_46,_autosomal_recessive |
114 | 6 | 64431122 | rs527236067(chr6-64431122-GtoT) | G | T | EYS | EYS:NM_001142800:exon43:c.C8805A:p.Y2935X EYS:NM_001292009:exon44:c.C8868A:p.Y2956X | stopgain | SO:0001587|nonsense | 143115 | 3 | Retinitis_pigmentosa |
115 | 3 | 129249877 | rs527236103(chr3-129249877-GtoA) | G | A | RHO | RHO:NM_000539:exon2:c.G520A:p.G174S | nonsynonymous SNV | SO:0001583|missense_variant | 143080 | 1 | Retinitis_pigmentosa |
116 | 14 | 94849345 | rs55819880(chr14-94849345-GtoA) | G | A | SERPINA1 | SERPINA1:NM_000295:exon2:c.C230T:p.S77F SERPINA1:NM_001002235:exon2:c.C230T:p.S77F SERPINA1:NM_001127700:exon2:c.C230T:p.S77F SERPINA1:NM_001127702:exon3:c.C230T:p.S77F SERPINA1:NM_001127706:exon3:c.C230T:p.S77F SERPINA1:NM_001127707:exon3:c.C230T:p.S77F SERPINA1:NM_001002236:exon4:c.C230T:p.S77F SERPINA1:NM_001127701:exon4:c.C230T:p.S77F SERPINA1:NM_001127703:exon4:c.C230T:p.S77F SERPINA1:NM_001127704:exon4:c.C230T:p.S77F SERPINA1:NM_001127705:exon4:c.C230T:p.S77F | nonsynonymous SNV | SO:0001583|missense_variant | 17992 | 1 | PI_S(IIYAMA) Alpha-1-antitrypsin_deficiency |
117 | 7 | 6027135 | rs587778617(chr7-6027135-GtoA) | G | A | PMS2 | PMS2:NM_001322008:exon9:c.C943T:p.R315X PMS2:NM_001322010:exon9:c.C700T:p.R234X PMS2:NM_001322004:exon10:c.C856T:p.R286X PMS2:NM_001322006:exon10:c.C1105T:p.R369X PMS2:NM_001322007:exon10:c.C943T:p.R315X PMS2:NM_001322013:exon10:c.C688T:p.R230X PMS2:NM_000535:exon11:c.C1261T:p.R421X PMS2:NM_001322003:exon11:c.C856T:p.R286X PMS2:NM_001322005:exon11:c.C856T:p.R286X PMS2:NM_001322009:exon11:c.C856T:p.R286X PMS2:NM_001322011:exon11:c.C328T:p.R110X PMS2:NM_001322012:exon11:c.C328T:p.R110X PMS2:NM_001322014:exon11:c.C1261T:p.R421X PMS2:NM_001322015:exon11:c.C952T:p.R318X | stopgain | SO:0001587|nonsense | 91299 | 1 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome not_specified not_provided |
118 | 1 | 45797752 | rs587781338(chr1-45797752-GtoA) | G | A | MUTYH | MUTYH:NM_001350650:exon10:c.C511T:p.Q171X MUTYH:NM_001350651:exon10:c.C511T:p.Q171X MUTYH:NM_001048171:exon11:c.C898T:p.Q300X MUTYH:NM_001048172:exon11:c.C859T:p.Q287X MUTYH:NM_001048173:exon11:c.C856T:p.Q286X MUTYH:NM_001048174:exon11:c.C856T:p.Q286X MUTYH:NM_001128425:exon11:c.C940T:p.Q314X MUTYH:NM_001293190:exon11:c.C901T:p.Q301X MUTYH:NM_001293191:exon11:c.C889T:p.Q297X MUTYH:NM_001293192:exon11:c.C580T:p.Q194X MUTYH:NM_001293196:exon11:c.C580T:p.Q194X MUTYH:NM_012222:exon11:c.C931T:p.Q311X MUTYH:NM_001293195:exon12:c.C856T:p.Q286X | stopgain | SO:0001587|nonsense | 140876 | 1 | Hereditary_cancer-predisposing_syndrome MYH-associated_polyposis not_provided |
119 | 11 | 108141874 | rs587781558(chr11-108141874-GtoT) | G | T | ATM | . | . | SO:0001575|splice_donor_variant | 142057 | 1 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome |
120 | 17 | 41243941 | rs62625308(chr17-41243941-GtoA) | G | A | BRCA1 | BRCA1:NM_007297:exon9:c.C3466T:p.R1156X BRCA1:NM_007294:exon10:c.C3607T:p.R1203X BRCA1:NM_007300:exon10:c.C3607T:p.R1203X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 17671 | 1 | Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Familial_cancer_of_breast Ovarian_cancer Breast-ovarian_cancer,_familial_1 Breast_and/or_ovarian_cancer not_provided |
121 | 2 | 169783827 | rs72549395(chr2-169783827-GtoA) | G | A | ABCB11 | ABCB11:NM_003742:exon26:c.C3457T:p.R1153C | nonsynonymous SNV | SO:0001583|missense_variant | 288726 | 1 | Benign_recurrent_intrahepatic_cholestasis_2 not_provided |
122 | 6 | 7565754 | rs727504443(chr6-7565754-GtoA) | G | A | DSP | . | . | SO:0001575|splice_donor_variant | 178282 | 1 | Cardiomyopathy Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8 Keratosis_palmoplantaris_striata_II not_provided |
123 | 1 | 17371320 | rs74315370(chr1-17371320-GtoA) | G | A | SDHB | SDHB:NM_003000:exon2:c.C136T:p.R46X | stopgain | SO:0001587|nonsense | 142763 | 1 | Pheochromocytoma Gastrointestinal_stroma_tumor Hereditary_cancer-predisposing_syndrome Hereditary_Paraganglioma-Pheochromocytoma_Syndromes Paragangliomas_4 not_provided |
124 | 3 | 48623599 | rs747522386(chr3-48623599-GtoA) | G | A | COL7A1 | COL7A1:NM_000094:exon27:c.C3631T:p.Q1211X | stopgain | SO:0001587|nonsense | 420110 | 1 | not_provided |
125 | 9 | 131088161 | rs747779231(chr9-131088161-GtoC) | G | C | COQ4 | . | . | SO:0001575|splice_donor_variant | 379740 | 3 | not_provided |
126 | 6 | 43006061 | rs749509661(chr6-43006061-GtoA) | G | A | CUL7 | CUL7:NM_001168370:exon25:c.C4969T:p.R1657X CUL7:NM_014780:exon25:c.C4717T:p.R1573X | stopgain | SO:0001587|nonsense | 195894 | 3 | Inborn_genetic_diseases not_provided |
127 | 10 | 135180471 | rs754609693(chr10-135180471-GtoA) | G | A | ECHS1 | ECHS1:NM_004092:exon5:c.C541T:p.R181C | nonsynonymous SNV | SO:0001583|missense_variant | 488384 | 1 | Mitochondrial_short-chain_enoyl-coa_hydratase_1_deficiency |
128 | 3 | 48613705 | rs757415879(chr3-48613705-GtoA) | G | A | COL7A1 | COL7A1:NM_000094:exon70:c.C5797T:p.R1933X | stopgain | SO:0001587|nonsense | 345830 | 1 | Dystrophic_epidermolysis_bullosa |
129 | 1 | 197404669 | rs757740068(chr1-197404669-GtoT) | G | T | CRB1 | CRB1:NM_001193640:exon7:c.G3340T:p.G1114X CRB1:NM_201253:exon9:c.G3676T:p.G1226X CRB1:NM_001257965:exon12:c.G3604T:p.G1202X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 438080 | 1 | Retinitis_pigmentosa |
130 | 8 | 145738793 | rs758790200(chr8-145738793-GtoA) | G | A | RECQL4 | RECQL4:NM_004260:exon14:c.C2272T:p.R758X | stopgain | SO:0001587|nonsense | 489031 | 2 | not_provided |
131 | 2 | 178592878 | rs771254375(chr2-178592878-GtoC) | G | C | PDE11A | PDE11A:NM_001077196:exon8:c.C479G:p.S160X PDE11A:NM_001077358:exon10:c.C737G:p.S246X PDE11A:NM_016953:exon11:c.C1811G:p.S604X PDE11A:NM_001077197:exon12:c.C1061G:p.S354X | stopgain | SO:0001587|nonsense | 225433 | 3 | Pigmented_nodular_adrenocortical_disease,_primary,_2 |
132 | 19 | 11231108 | rs774730452(chr19-11231108-GtoA) | G | A | LDLR | LDLR:NM_001195800:exon12:c.G1546A:p.A516T LDLR:NM_001195799:exon13:c.G1927A:p.A643T LDLR:NM_000527:exon14:c.G2050A:p.A684T LDLR:NM_001195798:exon14:c.G2050A:p.A684T | nonsynonymous SNV | SO:0001583|missense_variant SO:0001627|intron_variant | 252192 | 1 | Familial_hypercholesterolemia |
133 | 3 | 133654625 | rs776813259(chr3-133654625-GtoA) | G | A | SLCO2A1 | SLCO2A1:NM_005630:exon13:c.C1807T:p.R603X | stopgain | SO:0001587|nonsense | 225477 | 2 | Primary_hypertrophic_osteoarthropathy,_autosomal_recessive_2 |
134 | 2 | 26702224 | rs80356590(chr2-26702224-GtoA) | G | A | OTOF | OTOF:NM_001287489:exon18:c.C2122T:p.R708X OTOF:NM_194248:exon18:c.C2122T:p.R708X | stopgain | SO:0001587|nonsense SO:0001636|2KB_upstream_variant | 21831 | 1 | Deafness,_autosomal_recessive_9 Nonsyndromic_hearing_loss_and_deafness |
135 | 12 | 114804117 | rs863223788(chr12-114804117-GtoA) | G | A | TBX5 | TBX5:NM_080717:exon7:c.C685T:p.R229X TBX5:NM_000192:exon8:c.C835T:p.R279X TBX5:NM_181486:exon8:c.C835T:p.R279X | stopgain | SO:0001587|nonsense | 213832 | 1 | Aortic_valve_disease_2 not_provided |
136 | 7 | 66459273 | rs120074160(chr7-66459273-TtoA) | T | A | SBDS | SBDS:NM_016038:exon2:c.A184T:p.K62X | stopgain | SO:0001587|nonsense | 449095 | 3 | Microcephaly Deeply_set_eye Splenomegaly Short_stature Agenesis_of_permanent_teeth not_provided |
137 | X | 70072943 | rs143246552(chrX-70072943-TtoC) | T | C | TEX11 | TEX11:NM_031276:exon7:c.A466G:p.M156V TEX11:NM_001003811:exon8:c.A511G:p.M171V | nonsynonymous SNV | SO:0001583|missense_variant | 192379 | 7 | Spermatogenic_failure,_X-linked,_2 |
138 | 12 | 121434501 | rs193922577(chr12-121434501-TtoC) | T | C | HNF1A | HNF1A:NM_000545:exon6:c.T1265C:p.L422P HNF1A:NM_001306179:exon6:c.T1265C:p.L422P | nonsynonymous SNV | SO:0001583|missense_variant | 36797 | 1 | Maturity-onset_diabetes_of_the_young,_type_3 |
139 | 9 | 98279102 | rs755103500(chr9-98279102-TtoC) | T | C | PTCH1 | PTCH1:NM_001083603:exon1:c.A1G:p.M1V | nonsynonymous SNV | '- | '- | 2 | . |
140 | 17 | 73753393 | rs762236241(chr17-73753393-TtoC) | T | C | ITGB4 | . | . | SO:0001575|splice_donor_variant | 225396 | 4 | Epidermolysis_bullosa_simplex,_Cockayne-Touraine_type Adult_junctional_epidermolysis_bullosa Epidermolysis_bullosa_junctionalis_with_pyloric_atresia |
141 | 16 | 8904983 | rs80338702(chr16-8904983-TtoC) | T | C | PMM2 | PMM2:NM_000303:exon5:c.T395C:p.I132T | nonsynonymous SNV | SO:0001583|missense_variant | 7718 | 2 | Carbohydrate-deficient_glycoprotein_syndrome_type_I |
142 | 1 | 235564859 | rs758937799(chr1-235564859-AAGtoA) | AAG | A | TBCE | TBCE:NM_001079515:exon3:c.142_144A TBCE:NM_001287801:exon3:c.142_144A TBCE:NM_003193:exon3:c.142_144A | frameshift substitution | SO:0001589|frameshift_variant SO:0001627|intron_variant | 225483 | 2 | . |
143 | 4 | 47951883 | rs749012133(chr4-47951883-AGtoA) | AG | A | CNGA1 | CNGA1:NM_001142564:exon5:c.472_473T CNGA1:NM_000087:exon6:c.265_266T | frameshift substitution | SO:0001589|frameshift_variant | 225315 | 4 | . |
144 | 9 | 97365719 | rs757653154(chr9-97365719-AtoAC) | A | AC | FBP1 | FBP1:NM_000507:exon7:c.961delinsGT FBP1:NM_001127628:exon8:c.961delinsGT | frameshift substitution | SO:0001589|frameshift_variant | 867 | 1 | . |
145 | 10 | 72358385 | rs771552960(chr10-72358385-CAGtoC) | CAG | C | PRF1 | PRF1:NM_001083116:exon3:c.1090_1092G PRF1:NM_005041:exon3:c.1090_1092G | frameshift substitution | SO:0001589|frameshift_variant | 13721 | 1 | . |
146 | 12 | 103246712 | rs199475657(chr12-103246712-GCtoG) | GC | G | PAH | PAH:NM_000277:exon7:c.722_723C | frameshift substitution | SO:0001589|frameshift_variant | 102806 | 1 | . |
147 | 13 | 20763420 | rs111033204(chr13-20763420-CATtoC) | CAT | C | GJB2 | GJB2:NM_004004:exon2:c.299_301G | frameshift substitution | SO:0001589|frameshift_variant | 44736 | 2 | . |
148 | 13 | 32890556 | rs758732038(chr13-32890556-CAGtoC) | CAG | C | BRCA2 | . | . | '- | 421014 | 1 | . |
149 | 13 | 108862342 | rs772226399(chr13-108862342-TCTTTto-) | TCTTT | '- | LIG4 | LIG4:NM_001098268:exon2:c.1271_1275del:p.K424fs LIG4:NM_002312:exon2:c.1271_1275del:p.K424fs LIG4:NM_001330595:exon3:c.1070_1074del:p.K357fs LIG4:NM_206937:exon3:c.1271_1275del:p.K424fs | frameshift deletion | '- | '- | 2 | LIG4-Related_Disorders not_provided |
150 | 17 | 59761413 | rs771028677(chr17-59761413-CTTTGtoC) | CTTTG | C | BRIP1 | BRIP1:NM_032043:exon20:c.2990_2994G | frameshift substitution | SO:0001589|frameshift_variant | 234281 | 1 | . |
151 | 10 | 43609096 | rs76262710(chr10-43609096-TtoC) | T | C | RET | RET:NM_020630:exon10:c.T1852C:p.C618R RET:NM_020975:exon10:c.T1852C:p.C618R | nonsynonymous SNV | SO:0001583|missense_variant | 13929 | 0 | Medullary_thyroid_carcinoma Multiple_endocrine_neoplasia,_type_1 Multiple_endocrine_neoplasia,_type_2a Multiple_endocrine_neoplasia,_type_2b Familial_medullary_thyroid_carcinoma Multiple_endocrine_neoplasia,_type_4 Multiple_endocrine_neoplasia,_type_2 not_provided |
152 | 10 | 43609939 | rs377767406(chr10-43609939-GtoT) | G | T | RET | RET:NM_020630:exon11:c.G1891T:p.D631Y RET:NM_020975:exon11:c.G1891T:p.D631Y | nonsynonymous SNV | SO:0001583|missense_variant | 24914 | 0 | . |
153 | 10 | 43609948 | rs75076352(chr10-43609948-TtoC) | T | C | RET | RET:NM_020630:exon11:c.T1900C:p.C634R RET:NM_020975:exon11:c.T1900C:p.C634R | nonsynonymous SNV | SO:0001583|missense_variant | 13917 | 0 | . |
154 | 10 | 43609949 | rs75996173(chr10-43609949-GtoA) | G | A | RET | RET:NM_020630:exon11:c.G1901A:p.C634Y RET:NM_020975:exon11:c.G1901A:p.C634Y | nonsynonymous SNV | SO:0001583|missense_variant | 13909 | 0 | . |
155 | 10 | 43609950 | rs77709286(chr10-43609950-CtoG) | C | G | RET | RET:NM_020630:exon11:c.C1902G:p.C634W RET:NM_020975:exon11:c.C1902G:p.C634W | nonsynonymous SNV | SO:0001583|missense_variant | 13918 | 0 | . |
156 | 10 | 43614996 | rs79658334(chr10-43614996-GtoA) | G | A | RET | RET:NM_020630:exon14:c.G2410A:p.V804M RET:NM_020975:exon14:c.G2410A:p.V804M | nonsynonymous SNV | SO:0001583|missense_variant | 37102 | 0 | . |
157 | 10 | 43615142 | rs377767426(chr10-43615142-CtoG) | C | G | RET | RET:NM_020630:exon14:c.C2556G:p.I852M RET:NM_020975:exon14:c.C2556G:p.I852M | nonsynonymous SNV | SO:0001583|missense_variant | 24955 | 0 | . |
158 | 10 | 43617398 | rs78347871(chr10-43617398-GtoC) | G | C | RET | RET:NM_020630:exon16:c.G2735C:p.R912P RET:NM_020975:exon16:c.G2735C:p.R912P | nonsynonymous SNV | SO:0001583|missense_variant | 24968 | 0 | Familial_medullary_thyroid_carcinoma Multiple_endocrine_neoplasia,_type_2 |
159 | 10 | 43617416 | rs74799832(chr10-43617416-TtoC) | T | C | RET | RET:NM_020630:exon16:c.T2753C:p.M918T RET:NM_020975:exon16:c.T2753C:p.M918T | nonsynonymous SNV | SO:0001583|missense_variant | 13919 | 0 | . |
160 | 10 | 64973628 | .(chr10-64973628-CtoA) | C | A | JMJD1C | JMJD1C:NM_001322254:exon6:c.G1642T:p.G548X JMJD1C:NM_001282948:exon7:c.G1753T:p.G585X JMJD1C:NM_001318153:exon7:c.G1435T:p.G479X JMJD1C:NM_001322252:exon7:c.G2185T:p.G729X JMJD1C:NM_001322258:exon7:c.G1642T:p.G548X JMJD1C:NM_001318154:exon8:c.G1753T:p.G585X JMJD1C:NM_032776:exon8:c.G2299T:p.G767X | stopgain | '- | '- | 0 | . |
161 | 10 | 89624305 | rs746128825(chr10-89624305-TtoA) | T | A | PTEN | PTEN:NM_000314:exon1:c.T79A:p.Y27N PTEN:NM_001304717:exon2:c.T598A:p.Y200N | nonsynonymous SNV | '- | '- | 0 | . |
162 | 10 | 89717719 | rs1060500119(chr10-89717719-TGto-) | TG | '- | PTEN | PTEN:NM_000314:exon7:c.744_745del:p.P248fs PTEN:NM_001304718:exon7:c.153_154del:p.P51fs PTEN:NM_001304717:exon8:c.1263_1264del:p.P421fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome PTEN_hamartoma_tumor_syndrome |
163 | 11 | 10776513 | rs771636670(chr11-10776513-CtoG) | C | G | CTR9 | CTR9:NM_001346279:exon3:c.C153G:p.Y51X CTR9:NM_014633:exon3:c.C153G:p.Y51X | stopgain | '- | '- | 0 | . |
164 | 11 | 10778387 | rs757940976(chr11-10778387-TtoC) | T | C | CTR9 | . | . | '- | '- | 0 | . |
165 | 11 | 108098354 | rs781404312(chr11-108098354-GtoA) | G | A | ATM | ATM:NM_000051:exon2:c.G3A:p.M1I | nonsynonymous SNV | SO:0001583|missense_variant | 188901 | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
166 | 11 | 108098418 | rs746235533(chr11-108098418-CtoT) | C | T | ATM | ATM:NM_000051:exon2:c.C67T:p.R23X | stopgain | SO:0001587|nonsense | 232248 | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
167 | 11 | 108100002 | rs587781545(chr11-108100002-CtoT) | C | T | ATM | ATM:NM_000051:exon4:c.C283T:p.Q95X | stopgain | SO:0001587|nonsense | 141167 | 0 | Hereditary_cancer-predisposing_syndrome |
168 | 11 | 108106427 | rs771342315(chr11-108106427-TtoA) | T | A | ATM | ATM:NM_000051:exon5:c.T362A:p.L121X | stopgain | SO:0001587|nonsense | 482626 | 0 | Hereditary_cancer-predisposing_syndrome |
169 | 11 | 108106511 | rs771936821(chr11-108106511-TTCTto-) | TTCT | '- | ATM | ATM:NM_000051:exon5:c.446_449del:p.I149fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome |
170 | 11 | 108114679 | rs778624615(chr11-108114679-GtoA) | G | A | ATM | . | . | SO:0001574|splice_acceptor_variant | 375250 | 0 | . |
171 | 11 | 108115640 | rs1060499601(chr11-108115640-Tto-) | T | '- | ATM | ATM:NM_000051:exon7:c.788delT:p.L263fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
172 | 11 | 108115754 | rs748840480(chr11-108115754-GtoA) | G | A | ATM | . | . | SO:0001575|splice_donor_variant | 186761 | 0 | Ataxia-telangiectasia_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome |
173 | 11 | 108117813 | rs587780612(chr11-108117813-AAAGto-) | AAAG | '- | ATM | ATM:NM_000051:exon8:c.1024_1027del:p.K342fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
174 | 11 | 108121531 | rs587779815(chr11-108121531-CtoT) | C | T | ATM | ATM:NM_000051:exon10:c.C1339T:p.R447X | stopgain | SO:0001587|nonsense | 127337 | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
175 | 11 | 108121753 | rs587779817(chr11-108121753-AGto-) | AG | '- | ATM | ATM:NM_000051:exon10:c.1561_1562del:p.R521fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
176 | 11 | 108124556 | .(chr11-108124556-AtoT) | A | T | ATM | ATM:NM_000051:exon13:c.A1914T:p.K638N | nonsynonymous SNV | '- | '- | 0 | . |
177 | 11 | 108129749 | rs780619951(chr11-108129749-CtoT) | C | T | ATM | ATM:NM_000051:exon16:c.C2413T:p.R805X | stopgain | SO:0001587|nonsense | 216021 | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
178 | 11 | 108141874 | rs587781558(chr11-108141874-GtoA) | G | A | ATM | . | . | SO:0001575|splice_donor_variant | 141182 | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_specified not_provided |
179 | 11 | 108150225 | rs773964990(chr11-108150225-CtoT) | C | T | ATM | ATM:NM_000051:exon23:c.C3292T:p.Q1098X | stopgain | '- | '- | 0 | . |
180 | 11 | 108151895 | rs587776551(chr11-108151895-GtoA) | G | A | ATM | ATM:NM_000051:exon24:c.G3576A:p.K1192K | synonymous SNV | SO:0001819|synonymous_variant | 3035 | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
181 | 11 | 108155008 | rs587779834(chr11-108155008-Gto-) | G | '- | ATM | ATM:NM_000051:exon26:c.3801delG:p.E1267fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
182 | 11 | 108160410 | rs1060501551(chr11-108160410-AtoT) | A | T | ATM | ATM:NM_000051:exon29:c.A4318T:p.K1440X | stopgain | SO:0001587|nonsense | 407482 | 0 | Ataxia-telangiectasia_syndrome not_provided |
183 | 11 | 108165719 | rs753011366(chr11-108165719--toCT) | '- | CT | ATM | ATM:NM_000051:exon32:c.4842_4843insCT:p.L1614fs | frameshift insertion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome |
184 | 11 | 108172487 | rs587779846(chr11-108172487-Cto-) | C | '- | ATM | ATM:NM_000051:exon35:c.5290delC:p.L1764fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
185 | 11 | 108173702 | rs878853522(chr11-108173702-Gto-) | G | '- | ATM | ATM:NM_000051:exon36:c.5442delG:p.L1814fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome |
186 | 11 | 108175451 | rs876658287(chr11-108175451-Tto-) | T | '- | ATM | ATM:NM_000051:exon37:c.5546delT:p.I1849fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
187 | 11 | 108175528 | rs376603775(chr11-108175528-CtoT) | C | T | ATM | ATM:NM_000051:exon37:c.C5623T:p.R1875X | stopgain | SO:0001587|nonsense | 245815 | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
188 | 11 | 108183151 | rs587779852(chr11-108183151-GtoT) | G | T | ATM | ATM:NM_000051:exon40:c.G5932T:p.E1978X | stopgain | SO:0001587|nonsense | 127414 | 0 | Ataxia-telangiectasia_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
189 | 11 | 108186638 | rs139770721(chr11-108186638-GtoA) | G | A | ATM | ATM:NM_000051:exon41:c.G6095A:p.R2032K | nonsynonymous SNV | SO:0001583|missense_variant | 181974 | 0 | Ataxia-telangiectasia_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
190 | 11 | 108196843 | .(chr11-108196843--toT) | '- | T | ATM | ATM:NM_000051:exon47:c.6867dupT:p.S2289fs | frameshift insertion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome |
191 | 11 | 108198392 | rs587781299(chr11-108198392--toA) | '- | A | ATM | ATM:NM_000051:exon48:c.6997dupA:p.L2332fs | frameshift insertion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
192 | 11 | 108198392 | rs786203421(chr11-108198392-TACAto-) | TACA | '- | ATM | ATM:NM_000051:exon48:c.6996_6999del:p.L2332fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome |
193 | 11 | 108199881 | rs730881315(chr11-108199881-CtoA) | C | A | ATM | ATM:NM_000051:exon49:c.C7223A:p.S2408X | stopgain | '- | '- | 0 | . |
194 | 11 | 108202673 | rs1060501547(chr11-108202673-CAAAto-) | CAAA | '- | ATM | ATM:NM_000051:exon52:c.7697_7700del:p.A2566fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome not_provided |
195 | 11 | 108202678 | rs759965045(chr11-108202678-AGto-) | AG | '- | ATM | ATM:NM_000051:exon52:c.7702_7703del:p.R2568fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
196 | 11 | 108205832 | rs587782652(chr11-108205832-TtoC) | T | C | ATM | ATM:NM_000051:exon55:c.T8147C:p.V2716A | nonsynonymous SNV | SO:0001583|missense_variant | 142700 | 0 | Ataxia-telangiectasia_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
197 | 11 | 108214065 | rs786202800(chr11-108214065-TTTCAGTGCCto-) | TTTCAGTGCC | '- | ATM | ATM:NM_000051:exon57:c.8385_8394del:p.D2795fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
198 | 11 | 108216477 | rs587782558(chr11-108216477-Ato-) | A | '- | ATM | ATM:NM_000051:exon58:c.8426delA:p.Q2809fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
199 | 11 | 108216491 | rs752526400(chr11-108216491-Gto-) | G | '- | ATM | ATM:NM_000051:exon58:c.8440delG:p.E2814fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome |
200 | 11 | 108216545 | rs587779872(chr11-108216545-CtoT) | C | T | ATM | ATM:NM_000051:exon58:c.C8494T:p.R2832C | nonsynonymous SNV | SO:0001583|missense_variant | 127459 | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
201 | 11 | 108224608 | rs17174393(chr11-108224608-GtoA) | G | A | ATM | . | . | SO:0001575|splice_donor_variant | 127463 | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
202 | 11 | 108225565 | rs758814126(chr11-108225565-GAGAAACTCTCto-) | GAGAAACTCTC | '- | ATM | ATM:NM_000051:exon61:c.8814_8824del:p.M2938fs | frameshift deletion | '- | '- | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
203 | 11 | 108235935 | rs770641163(chr11-108235935-CtoT) | C | T | ATM | ATM:NM_000051:exon62:c.C8977T:p.R2993X | stopgain | SO:0001587|nonsense | 186330 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Ataxia-telangiectasia_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
204 | 11 | 108236086 | rs587782292(chr11-108236086-CtoT) | C | T | ATM | ATM:NM_000051:exon63:c.C9022T:p.R3008C | nonsynonymous SNV | SO:0001583|missense_variant | 142187 | 0 | Ataxia-telangiectasia_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
205 | 11 | 111957632 | rs104894307(chr11-111957632-AtoT) | A | T | SDHD | SDHD:NM_001276503:exon1:c.A1T:p.M1L SDHD:NM_001276504:exon1:c.A1T:p.M1L SDHD:NM_001276506:exon1:c.A1T:p.M1L SDHD:NM_003002:exon1:c.A1T:p.M1L | nonsynonymous SNV | SO:0001583|missense_variant | 422629 | 0 | Hereditary_cancer-predisposing_syndrome not_provided |
206 | 11 | 111959590 | .(chr11-111959590-GtoT) | G | T | SDHD | . | . | SO:0001574|splice_acceptor_variant SO:0001627|intron_variant | 438434 | 0 | Pheochromocytoma Hereditary_Paraganglioma-Pheochromocytoma_Syndromes Paraganglioma_and_gastric_stromal_sarcoma Paragangliomas_1 Cowden_syndrome_3 |
207 | 11 | 111959663 | rs80338844(chr11-111959663-CtoT) | C | T | SDHD | SDHD:NM_001276504:exon2:c.C125T:p.P42L SDHD:NM_001276506:exon3:c.C242T:p.P81L SDHD:NM_003002:exon3:c.C242T:p.P81L | nonsynonymous SNV | SO:0001583|missense_variant SO:0001627|intron_variant | 6896 | 0 | Pheochromocytoma Hereditary_cancer-predisposing_syndrome Hereditary_Paraganglioma-Pheochromocytoma_Syndromes Paraganglioma_and_gastric_stromal_sarcoma Paragangliomas_1 Paragangliomas_1_with_sensorineural_hearing_loss Cowden_syndrome_3 not_provided |
208 | 11 | 111965618 | .(chr11-111965618-Cto-) | C | '- | SDHD | SDHD:NM_001276504:exon3:c.287delC:p.T96fs SDHD:NM_003002:exon4:c.404delC:p.T135fs | frameshift deletion | '- | '- | 0 | . |
209 | 11 | 119148966 | rs387906665(chr11-119148966-TtoC) | T | C | CBL | CBL:NM_005188:exon8:c.T1186C:p.C396R | nonsynonymous SNV | SO:0001583|missense_variant | 29823 | 0 | Noonan_syndrome-like_disorder_with_juvenile_myelomonocytic_leukemia not_provided |
210 | 11 | 44129583 | rs767802942(chr11-44129583-TtoA) | T | A | EXT2 | EXT2:NM_000401:exon2:c.T420A:p.Y140X EXT2:NM_001178083:exon2:c.T321A:p.Y107X EXT2:NM_207122:exon2:c.T321A:p.Y107X | stopgain | '- | '- | 0 | . |
211 | 11 | 44130743 | rs774168080(chr11-44130743-Gto-) | G | '- | EXT2 | . | . | '- | '- | 0 | . |
212 | 11 | 44165865 | rs373068341(chr11-44165865-GtoA) | G | A | EXT2 | EXT2:NM_001178083:exon8:c.G1242A:p.W414X | stopgain | '- | '- | 0 | . |
213 | 11 | 44165875 | rs746604744(chr11-44165875-CtoT) | C | T | EXT2 | EXT2:NM_001178083:exon8:c.C1252T:p.Q418X | stopgain | '- | '- | 0 | . |
214 | 11 | 44193294 | rs202153611(chr11-44193294-TtoC) | T | C | EXT2 | . | . | '- | '- | 0 | . |
215 | 11 | 44219466 | rs772690312(chr11-44219466-CtoT) | C | T | EXT2 | EXT2:NM_000401:exon9:c.C1492T:p.R498X EXT2:NM_207122:exon9:c.C1393T:p.R465X EXT2:NM_001178083:exon10:c.C1423T:p.R475X | stopgain | SO:0001587|nonsense | 580003 | 0 | Multiple_exostoses_type_2 |
216 | 11 | 44219552 | rs757300101(chr11-44219552-Tto-) | T | '- | EXT2 | EXT2:NM_000401:exon9:c.1578delT:p.N526fs EXT2:NM_207122:exon9:c.1479delT:p.N493fs EXT2:NM_001178083:exon10:c.1509delT:p.N503fs | frameshift deletion | '- | '- | 0 | . |
217 | 11 | 44228510 | rs756921209(chr11-44228510-GtoC) | G | C | EXT2 | . | . | '- | '- | 0 | . |
218 | 11 | 44253902 | .(chr11-44253902-GtoA) | G | A | EXT2 | . | . | '- | '- | 0 | . |
219 | 11 | 44255682 | rs781083252(chr11-44255682-TtoA) | T | A | EXT2 | EXT2:NM_000401:exon12:c.T1923A:p.Y641X EXT2:NM_207122:exon12:c.T1824A:p.Y608X EXT2:NM_001178083:exon13:c.T1854A:p.Y618X | stopgain | '- | '- | 0 | . |
220 | 11 | 44257852 | rs765648513(chr11-44257852-CtoT) | C | T | EXT2 | EXT2:NM_000401:exon13:c.C2044T:p.R682X EXT2:NM_207122:exon13:c.C1945T:p.R649X EXT2:NM_001178083:exon14:c.C1975T:p.R659X | stopgain | '- | '- | 0 | . |
221 | 11 | 47238018 | .(chr11-47238018-CtoT) | C | T | DDB2 | DDB2:NM_000107:exon2:c.C259T:p.Q87X DDB2:NM_001300734:exon2:c.C259T:p.Q87X | stopgain | '- | '- | 0 | . |
222 | 11 | 47256161 | rs144989465(chr11-47256161-CtoT) | C | T | DDB2 | DDB2:NM_000107:exon5:c.C640T:p.R214X | stopgain | '- | '- | 0 | . |
223 | 11 | 47256423 | rs121434640(chr11-47256423-GtoA) | G | A | DDB2 | DDB2:NM_000107:exon6:c.G818A:p.R273H | nonsynonymous SNV | SO:0001583|missense_variant SO:0001627|intron_variant | 8788 | 0 | Xeroderma_pigmentosum,_group_E |
224 | 1 | 161293430 | rs758528026(chr1-161293430-Cto-) | C | '- | SDHC | SDHC:NM_001035511:exon2:c.47delC:p.A16fs SDHC:NM_001035512:exon2:c.47delC:p.A16fs SDHC:NM_001278172:exon2:c.47delC:p.A16fs SDHC:NM_003001:exon2:c.47delC:p.A16fs | frameshift deletion | '- | '- | 0 | . |
225 | 11 | 64572613 | rs1060499974(chr11-64572613-GtoA) | G | A | MEN1 | MEN1:NM_000244:exon9:c.C1258T:p.R420X MEN1:NM_130799:exon9:c.C1243T:p.R415X MEN1:NM_130800:exon9:c.C1258T:p.R420X MEN1:NM_130801:exon9:c.C1258T:p.R420X MEN1:NM_130802:exon9:c.C1258T:p.R420X MEN1:NM_130803:exon9:c.C1258T:p.R420X MEN1:NM_130804:exon10:c.C1258T:p.R420X | stopgain | SO:0001587|nonsense | 403802 | 0 | Multiple_endocrine_neoplasia,_type_1 Hereditary_cancer-predisposing_syndrome not_provided |
226 | 11 | 64575023 | .(chr11-64575023-CtoT) | C | T | MEN1 | . | . | SO:0001575|splice_donor_variant | 428081 | 0 | Metastatic_pancreatic_neuroendocrine_tumours Multiple_endocrine_neoplasia,_type_1 Hereditary_cancer-predisposing_syndrome not_specified |
227 | 1 | 17349155 | rs876660642(chr1-17349155-Ato-) | A | '- | SDHB | SDHB:NM_003000:exon7:c.713delT:p.F238fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome |
228 | 1 | 17355094 | rs398122805(chr1-17355094-CtoT) | C | T | SDHB | . | . | SO:0001575|splice_donor_variant | 29896 | 0 | Pheochromocytoma Gastrointestinal_stroma_tumor Hereditary_cancer-predisposing_syndrome Hereditary_Paraganglioma-Pheochromocytoma_Syndromes Paragangliomas_4 not_specified not_provided |
229 | 1 | 17355166 | .(chr1-17355166-CAATCto-) | CAATC | '- | SDHB | SDHB:NM_003000:exon4:c.348_352del:p.R116fs | frameshift deletion | '- | '- | 0 | Hereditary_Paraganglioma-Pheochromocytoma_Syndromes |
230 | 1 | 17371320 | rs74315370(chr1-17371320-GtoA) | G | A | SDHB | SDHB:NM_003000:exon2:c.C136T:p.R46X | stopgain | SO:0001587|nonsense | 142763 | 0 | Pheochromocytoma Gastrointestinal_stroma_tumor Hereditary_cancer-predisposing_syndrome Hereditary_Paraganglioma-Pheochromocytoma_Syndromes Paragangliomas_4 not_provided |
231 | 1 | 17371377 | rs74315369(chr1-17371377-GtoA) | G | A | SDHB | SDHB:NM_003000:exon2:c.C79T:p.R27X | stopgain | SO:0001587|nonsense | 12783 | 0 | Pheochromocytoma Gastrointestinal_stroma_tumor Hereditary_cancer-predisposing_syndrome Hereditary_Paraganglioma-Pheochromocytoma_Syndromes Paragangliomas_4 not_provided |
232 | 12 | 111856571 | rs202080221(chr12-111856571-GtoC) | G | C | SH2B3 | SH2B3:NM_005475:exon2:c.G622C:p.E208Q | nonsynonymous SNV | SO:0001583|missense_variant | 30445 | 0 | Essential_thrombocythemia |
233 | 12 | 112888157 | rs751437780(chr12-112888157-AtoG) | A | G | PTPN11 | PTPN11:NM_001330437:exon3:c.A173G:p.N58S PTPN11:NM_002834:exon3:c.A173G:p.N58S PTPN11:NM_080601:exon3:c.A173G:p.N58S | nonsynonymous SNV | SO:0001583|missense_variant | 372483 | 0 | Rasopathy not_provided |
234 | 12 | 112924286 | rs121918467(chr12-112924286-CtoT) | C | T | PTPN11 | PTPN11:NM_001330437:exon11:c.C1244T:p.T415M PTPN11:NM_002834:exon11:c.C1232T:p.T411M PTPN11:NM_080601:exon11:c.C1232T:p.T411M | nonsynonymous SNV | SO:0001583|missense_variant | 13341 | 0 | Noonan_syndrome_1 |
235 | 12 | 112926852 | rs397507540(chr12-112926852-CtoT) | C | T | PTPN11 | PTPN11:NM_001330437:exon13:c.C1484T:p.P495L PTPN11:NM_002834:exon13:c.C1472T:p.P491L | nonsynonymous SNV | SO:0001583|missense_variant | 40552 | 0 | Noonan_syndrome Rasopathy not_provided |
236 | 12 | 121426835 | rs754728827(chr12-121426835-CtoT) | C | T | HNF1A | HNF1A:NM_000545:exon2:c.C526T:p.Q176X HNF1A:NM_001306179:exon2:c.C526T:p.Q176X | stopgain | SO:0001587|nonsense | 372380 | 0 | not_provided |
237 | 12 | 12870776 | rs756190836(chr12-12870776-GtoA) | G | A | CDKN1B | CDKN1B:NM_004064:exon1:c.G3A:p.M1I | nonsynonymous SNV | SO:0001583|missense_variant | 469024 | 0 | Multiple_endocrine_neoplasia,_type_4 |
238 | 12 | 12870979 | rs777354267(chr12-12870979-CtoT) | C | T | CDKN1B | CDKN1B:NM_004064:exon1:c.C206T:p.P69L | nonsynonymous SNV | SO:0001583|missense_variant | 183393 | 0 | Multiple_endocrine_neoplasia,_type_4 |
239 | 12 | 12874033 | rs763422475(chr12-12874033-CtoG) | C | G | CDKN1B | . | . | '- | '- | 0 | . |
240 | 12 | 133202825 | .(chr12-133202825-CtoA) | C | A | POLE | POLE:NM_006231:exon46:c.G6409T:p.E2137X | stopgain | '- | '- | 0 | . |
241 | 12 | 133209095 | rs766732521(chr12-133209095-CtoT) | C | T | POLE | . | . | '- | '- | 0 | . |
242 | 12 | 133209283 | rs757478410(chr12-133209283-GtoA) | G | A | POLE | POLE:NM_006231:exon44:c.C6103T:p.Q2035X | stopgain | SO:0001587|nonsense | 577590 | 0 | Colorectal_cancer,_susceptibility_to,_12 |
243 | 12 | 133214656 | rs773148245(chr12-133214656-ACto-) | AC | '- | POLE | POLE:NM_006231:exon41:c.5621_5622del:p.C1874fs | frameshift deletion | '- | '- | 0 | . |
244 | 12 | 133215783 | .(chr12-133215783-GtoT) | G | T | POLE | POLE:NM_006231:exon40:c.C5480A:p.S1827X | stopgain | '- | '- | 0 | . |
245 | 12 | 133218275 | .(chr12-133218275-Gto-) | G | '- | POLE | POLE:NM_006231:exon39:c.5336delC:p.P1779fs | frameshift deletion | '- | '- | 0 | . |
246 | 12 | 133219172 | rs754982151(chr12-133219172-CtoT) | C | T | POLE | POLE:NM_006231:exon37:c.G4872A:p.W1624X | stopgain | SO:0001587|nonsense | 405778 | 0 | Hereditary_cancer-predisposing_syndrome Colorectal_cancer,_susceptibility_to,_12 not_provided |
247 | 12 | 133219429 | rs778914414(chr12-133219429-GtoA) | G | A | POLE | POLE:NM_006231:exon36:c.C4705T:p.Q1569X | stopgain | '- | '- | 0 | . |
248 | 12 | 133219917 | rs760679746(chr12-133219917-CtoG) | C | G | POLE | . | . | '- | '- | 0 | . |
249 | 12 | 133235914 | rs763470055(chr12-133235914-GAGATGATGTAto-) | GAGATGATGTA | '- | POLE | POLE:NM_006231:exon26:c.3232_3242del:p.Y1078fs | frameshift deletion | '- | '- | 0 | . |
250 | 12 | 133242024 | rs773589185(chr12-133242024-TCto-) | TC | '- | POLE | POLE:NM_006231:exon21:c.2331_2332del:p.K777fs | frameshift deletion | '- | '- | 0 | . |
251 | 12 | 133249395 | rs762636894(chr12-133249395-CAto-) | CA | '- | POLE | POLE:NM_006231:exon15:c.1503_1504del:p.C501fs | frameshift deletion | '- | '- | 0 | Colorectal_cancer,_susceptibility_to,_12 |
252 | 12 | 133253134 | rs749117997(chr12-133253134-GtoA) | G | A | POLE | POLE:NM_006231:exon9:c.C907T:p.Q303X | stopgain | SO:0001587|nonsense | 473841 | 0 | Colorectal_cancer,_susceptibility_to,_12 |
253 | 12 | 21624022 | .(chr12-21624022-TGto-) | TG | '- | RECQL | RECQL:NM_002907:exon14:c.1677_1678del:p.Y559fs RECQL:NM_032941:exon15:c.1677_1678del:p.Y559fs | frameshift deletion | '- | '- | 0 | . |
254 | 12 | 21624359 | rs564485792(chr12-21624359-TACTto-) | TACT | '- | RECQL | RECQL:NM_002907:exon13:c.1667_1667del:p.K556fs RECQL:NM_032941:exon14:c.1667_1667del:p.K556fs | frameshift deletion | '- | '- | 0 | . |
255 | 12 | 21624553 | rs370785080(chr12-21624553-GtoC) | G | C | RECQL | RECQL:NM_002907:exon13:c.C1476G:p.Y492X RECQL:NM_032941:exon14:c.C1476G:p.Y492X | stopgain | '- | '- | 0 | . |
256 | 12 | 21624566 | rs776151169(chr12-21624566-TTCTto-) | TTCT | '- | RECQL | RECQL:NM_002907:exon13:c.1460_1463del:p.K487fs RECQL:NM_032941:exon14:c.1460_1463del:p.K487fs | frameshift deletion | '- | '- | 0 | . |
257 | 12 | 21627774 | rs140319286(chr12-21627774-CtoT) | C | T | RECQL | . | . | '- | '- | 0 | . |
258 | 12 | 21627911 | rs770499904(chr12-21627911-GtoA) | G | A | RECQL | RECQL:NM_002907:exon11:c.C1219T:p.R407X RECQL:NM_032941:exon12:c.C1219T:p.R407X | stopgain | SO:0001587|nonsense | 545999 | 0 | not_provided |
259 | 12 | 21628480 | rs145868233(chr12-21628480-TtoA) | T | A | RECQL | RECQL:NM_002907:exon10:c.A1138T:p.K380X RECQL:NM_032941:exon11:c.A1138T:p.K380X | stopgain | '- | '- | 0 | . |
260 | 12 | 21628609 | rs373021457(chr12-21628609-CtoT) | C | T | RECQL | . | . | '- | '- | 0 | . |
261 | 12 | 21628708 | rs779556696(chr12-21628708-AACTto-) | AACT | '- | RECQL | RECQL:NM_002907:exon9:c.997_1000del:p.S333fs RECQL:NM_032941:exon10:c.997_1000del:p.S333fs | frameshift deletion | '- | '- | 0 | . |
262 | 12 | 21628743 | rs768075076(chr12-21628743-AAACto-) | AAAC | '- | RECQL | RECQL:NM_002907:exon9:c.962_965del:p.C321fs RECQL:NM_032941:exon10:c.962_965del:p.C321fs | frameshift deletion | '- | '- | 0 | not_provided |
263 | 12 | 21630784 | .(chr12-21630784-Ato-) | A | '- | RECQL | RECQL:NM_002907:exon7:c.820delT:p.C274fs RECQL:NM_032941:exon8:c.820delT:p.C274fs | frameshift deletion | '- | '- | 0 | . |
264 | 12 | 21636439 | rs764397488(chr12-21636439-GAto-) | GA | '- | RECQL | RECQL:NM_002907:exon6:c.570_571del:p.T190fs RECQL:NM_032941:exon7:c.570_571del:p.T190fs | frameshift deletion | '- | '- | 0 | . |
265 | 1 | 241665769 | rs797044974(chr1-241665769-CtoA) | C | A | FH | FH:NM_000143:exon8:c.G1210T:p.E404X | stopgain | SO:0001587|nonsense | 208375 | 0 | Multiple_cutaneous_leiomyomas |
266 | 1 | 241665840 | rs781466938(chr1-241665840--toT) | '- | T | FH | FH:NM_000143:exon8:c.1138dupA:p.M380fs | frameshift insertion | '- | '- | 0 | Multiple_cutaneous_leiomyomas Fumarase_deficiency |
267 | 1 | 241667364 | rs756469140(chr1-241667364-TTCAto-) | TTCA | '- | FH | FH:NM_000143:exon7:c.1083_1086del:p.N361fs | frameshift deletion | '- | '- | 0 | Multiple_cutaneous_leiomyomas Hereditary_cancer-predisposing_syndrome Fumarase_deficiency not_provided |
268 | 1 | 241672081 | rs398123166(chr1-241672081-GtoC) | G | C | FH | FH:NM_000143:exon5:c.C560G:p.S187X | stopgain | SO:0001587|nonsense | 92456 | 0 | Multiple_cutaneous_leiomyomas Fumarase_deficiency not_provided |
269 | 1 | 241672087 | rs750273092(chr1-241672087-TtoA) | T | A | FH | . | . | SO:0001574|splice_acceptor_variant | 393566 | 0 | Multiple_cutaneous_leiomyomas |
270 | 12 | 64410750 | rs781626187(chr12-64410750-AtoC) | A | C | SRGAP1 | SRGAP1:NM_001346201:exon4:c.A447C:p.Q149H SRGAP1:NM_020762:exon4:c.A447C:p.Q149H | nonsynonymous SNV | SO:0001583|missense_variant | 208456 | 0 | Follicular_thyroid_carcinoma |
271 | 13 | 20763056 | rs766975999(chr13-20763056-GtoT) | G | T | GJB2 | GJB2:NM_004004:exon2:c.C665A:p.S222X | stopgain | SO:0001587|nonsense | 551242 | 0 | Deafness,_autosomal_recessive_1A |
272 | 13 | 20763145 | rs747847191(chr13-20763145-Tto-) | T | '- | GJB2 | GJB2:NM_004004:exon2:c.576delA:p.T192fs | frameshift deletion | '- | '- | 0 | . |
273 | 13 | 20763188 | rs876657693(chr13-20763188-ACAGTGTTGGGto-) | ACAGTGTTGGG | '- | GJB2 | GJB2:NM_004004:exon2:c.523_533del:p.P175fs | frameshift deletion | '- | '- | 0 | Nonsyndromic_hearing_loss_and_deafness |
274 | 13 | 20763395 | rs111033253(chr13-20763395-CCCTTGATGAACTTto-) | CCCTTGATGAACTT | '- | GJB2 | GJB2:NM_004004:exon2:c.313_326del:p.K105fs | frameshift deletion | '- | '- | 0 | Hearing_impairment Deafness,_autosomal_recessive_1A Deafness,_autosomal_dominant_3a Hearing_loss Nonsyndromic_hearing_loss_and_deafness not_specified not_provided |
275 | 13 | 20763421 | rs111033204(chr13-20763421-ATto-) | AT | '- | GJB2 | GJB2:NM_004004:exon2:c.299_300del:p.H100fs | frameshift deletion | '- | '- | 0 | Deafness,_autosomal_recessive_1A Deafness,_autosomal_dominant_3a Nonsyndromic_hearing_loss_and_deafness not_provided |
276 | 13 | 20763486 | rs80338943(chr13-20763486-Gto-) | G | '- | GJB2 | GJB2:NM_004004:exon2:c.235delC:p.L79fs | frameshift deletion | '- | '- | 0 | Hearing_impairment Deafness,_autosomal_recessive_1A Deafness,_digenic,_GJB2/GJB3 Deafness,_autosomal_dominant_3a Hearing_loss Nonsyndromic_hearing_loss_and_deafness not_provided |
277 | 13 | 20763526 | .(chr13-20763526-GtoT) | G | T | GJB2 | GJB2:NM_004004:exon2:c.C195A:p.Y65X | stopgain | '- | '- | 0 | . |
278 | 13 | 20763552 | rs111033297(chr13-20763552-GtoA) | G | A | GJB2 | GJB2:NM_004004:exon2:c.C169T:p.Q57X | stopgain | SO:0001587|nonsense | 44725 | 0 | Deafness,_autosomal_recessive_1A Hearing_loss Nonsyndromic_hearing_loss_and_deafness not_provided |
279 | 13 | 20763582 | rs104894398(chr13-20763582-CtoA) | C | A | GJB2 | GJB2:NM_004004:exon2:c.G139T:p.E47X | stopgain | SO:0001587|nonsense | 17005 | 0 | Hearing_impairment Mutilating_keratoderma Knuckle_pads,_deafness_AND_leukonychia_syndrome Keratoderma_palmoplantar_deafness Keratitis-ichthyosis-deafness_syndrome,_autosomal_dominant Deafness,_X-linked_2 Hystrix-like_ichthyosis_with_deafness Deafness,_autosomal_recessive_1A Deafness,_autosomal_dominant_3a Hearing_loss Nonsyndromic_hearing_loss_and_deafness not_provided |
280 | 13 | 20763719 | rs371086981(chr13-20763719-AtoG) | A | G | GJB2 | GJB2:NM_004004:exon2:c.T2C:p.M1T | nonsynonymous SNV | SO:0001583|missense_variant | 371781 | 0 | Deafness,_autosomal_recessive_1A Deafness,_autosomal_dominant_3a |
281 | 13 | 20763720 | rs111033293(chr13-20763720-TtoC) | T | C | GJB2 | GJB2:NM_004004:exon2:c.A1G:p.M1V | nonsynonymous SNV | SO:0001583|missense_variant | 44729 | 0 | Deafness,_autosomal_recessive_1A Nonsyndromic_hearing_loss_and_deafness not_specified not_provided |
282 | 13 | 32890599 | rs80358547(chr13-32890599-TtoG) | T | G | BRCA2 | BRCA2:NM_000059:exon2:c.T2G:p.M1R | nonsynonymous SNV | SO:0001583|missense_variant | 51385 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 |
283 | 13 | 32890660 | .(chr13-32890660-AtoG) | A | G | BRCA2 | BRCA2:NM_000059:exon2:c.A63G:p.K21K | synonymous SNV | SO:0001819|synonymous_variant | 438997 | 0 | Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome not_specified |
284 | 13 | 32893460 | rs756310203(chr13-32893460-TAGGto-) | TAGG | '- | BRCA2 | BRCA2:NM_000059:exon3:c.314_316del:p.105_106del | nonframeshift deletion | '- | '- | 0 | . |
285 | 13 | 32900752 | rs81002899(chr13-32900752-TtoG) | T | G | BRCA2 | . | . | SO:0001575|splice_donor_variant | 9349 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_D1 Breast-ovarian_cancer,_familial_2 not_provided |
286 | 13 | 32903605 | rs80359604(chr13-32903605-TGto-) | TG | '- | BRCA2 | BRCA2:NM_000059:exon8:c.657_658del:p.T219fs | frameshift deletion | '- | '- | 0 | Medulloblastoma Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_D1 Breast-ovarian_cancer,_familial_2 Breast-ovarian_cancer,_familial_1 Glioma_susceptibility_3 Wilms_tumor_1 Breast_and/or_ovarian_cancer not_provided |
287 | 13 | 32905141 | rs80359671(chr13-32905141-CAAATto-) | CAAAT | '- | BRCA2 | BRCA2:NM_000059:exon9:c.767_771del:p.T256fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
288 | 13 | 32906495 | rs397508009(chr13-32906495-GtoT) | G | T | BRCA2 | BRCA2:NM_000059:exon10:c.G880T:p.E294X | stopgain | SO:0001587|nonsense | 52683 | 0 | Breast-ovarian_cancer,_familial_2 not_provided |
289 | 13 | 32906640 | rs80359260(chr13-32906640-Ato-) | A | '- | BRCA2 | BRCA2:NM_000059:exon10:c.1025delA:p.E342fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
290 | 13 | 32906712 | rs886040345(chr13-32906712-TtoG) | T | G | BRCA2 | BRCA2:NM_000059:exon10:c.T1097G:p.L366X | stopgain | SO:0001587|nonsense | 266609 | 0 | Breast-ovarian_cancer,_familial_2 |
291 | 13 | 32906877 | rs80359273(chr13-32906877-Ato-) | A | '- | BRCA2 | BRCA2:NM_000059:exon10:c.1262delA:p.Q421fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
292 | 13 | 32910868 | rs80358503(chr13-32910868-CtoA) | C | A | BRCA2 | BRCA2:NM_000059:exon11:c.C2376A:p.Y792X | stopgain | SO:0001587|nonsense | 51274 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 |
293 | 13 | 32911143 | rs80359340(chr13-32911143-CAGAto-) | CAGA | '- | BRCA2 | BRCA2:NM_000059:exon11:c.2651_2654del:p.S884fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
294 | 13 | 32911298 | rs80359351(chr13-32911298-AAACto-) | AAAC | '- | BRCA2 | BRCA2:NM_000059:exon11:c.2806_2809del:p.K936fs | frameshift deletion | '- | '- | 0 | Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 Breast-ovarian_cancer,_familial_1 Breast_and/or_ovarian_cancer not_provided |
295 | 13 | 32911538 | rs748508287(chr13-32911538-GtoT) | G | T | BRCA2 | BRCA2:NM_000059:exon11:c.G3046T:p.E1016X | stopgain | SO:0001587|nonsense | 254513 | 0 | Breast-ovarian_cancer,_familial_2 |
296 | 13 | 32911601 | rs80358557(chr13-32911601-CtoT) | C | T | BRCA2 | BRCA2:NM_000059:exon11:c.C3109T:p.Q1037X | stopgain | SO:0001587|nonsense | 37819 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
297 | 13 | 32911678 | rs80359374(chr13-32911678-TCAGto-) | TCAG | '- | BRCA2 | BRCA2:NM_000059:exon11:c.3186_3189del:p.P1062fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
298 | 13 | 32912096 | .(chr13-32912096-Ato-) | A | '- | BRCA2 | BRCA2:NM_000059:exon11:c.3604delA:p.K1202fs | frameshift deletion | '- | '- | 0 | . |
299 | 13 | 32912338 | rs80359405(chr13-32912338-TGto-) | TG | '- | BRCA2 | BRCA2:NM_000059:exon11:c.3846_3847del:p.T1282fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
300 | 13 | 32912466 | rs397515636(chr13-32912466--toTGCT) | '- | TGCT | BRCA2 | BRCA2:NM_000059:exon11:c.3974_3975insTGCT:p.T1325fs | frameshift insertion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
301 | 13 | 32912718 | rs879255450(chr13-32912718--toA) | '- | A | BRCA2 | BRCA2:NM_000059:exon11:c.4227dupA:p.L1409fs | frameshift insertion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
302 | 13 | 32912900 | rs80359446(chr13-32912900-ATto-) | AT | '- | BRCA2 | BRCA2:NM_000059:exon11:c.4408_4409del:p.I1470fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 |
303 | 13 | 32913044 | rs397507727(chr13-32913044-GtoT) | G | T | BRCA2 | BRCA2:NM_000059:exon11:c.G4552T:p.E1518X | stopgain | SO:0001587|nonsense | 51670 | 0 | Breast-ovarian_cancer,_familial_2 not_provided |
304 | 13 | 32913119 | rs80359461(chr13-32913119-Ato-) | A | '- | BRCA2 | BRCA2:NM_000059:exon11:c.4627delA:p.K1543fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
305 | 13 | 32913182 | rs786204209(chr13-32913182--toC) | '- | C | BRCA2 | BRCA2:NM_000059:exon11:c.4691dupC:p.A1564fs | frameshift insertion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 Breast_and/or_ovarian_cancer |
306 | 13 | 32913285 | rs747418290(chr13-32913285-TCAAto-) | TCAA | '- | BRCA2 | BRCA2:NM_000059:exon11:c.4793_4796del:p.L1598fs | frameshift deletion | '- | '- | 0 | Breast-ovarian_cancer,_familial_2 |
307 | 13 | 32913381 | rs80358711(chr13-32913381-CtoG) | C | G | BRCA2 | BRCA2:NM_000059:exon11:c.C4889G:p.S1630X | stopgain | SO:0001587|nonsense | 51732 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
308 | 13 | 32913457 | rs80358721(chr13-32913457-CtoG) | C | G | BRCA2 | BRCA2:NM_000059:exon11:c.C4965G:p.Y1655X | stopgain | SO:0001587|nonsense | 37936 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_D1 Breast-ovarian_cancer,_familial_2 not_specified not_provided |
309 | 13 | 32913558 | rs80359480(chr13-32913558--toA) | '- | A | BRCA2 | BRCA2:NM_000059:exon11:c.5067dupA:p.A1689fs | frameshift insertion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
310 | 13 | 32913604 | rs276174853(chr13-32913604-AATAto-) | AATA | '- | BRCA2 | BRCA2:NM_000059:exon11:c.5112_5115del:p.R1704fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 |
311 | 13 | 32913620 | rs80359484(chr13-32913620-TATGto-) | TATG | '- | BRCA2 | BRCA2:NM_000059:exon11:c.5128_5131del:p.Y1710fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 Breast-ovarian_cancer,_familial_1 not_provided |
312 | 13 | 32913703 | rs80359493(chr13-32913703-TACTto-) | TACT | '- | BRCA2 | BRCA2:NM_000059:exon11:c.5211_5214del:p.D1737fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
313 | 13 | 32913778 | .(chr13-32913778-TtoG) | T | G | BRCA2 | BRCA2:NM_000059:exon11:c.T5286G:p.Y1762X | stopgain | '- | '- | 0 | . |
314 | 13 | 32913795 | rs80359505(chr13-32913795-TTto-) | TT | '- | BRCA2 | BRCA2:NM_000059:exon11:c.5303_5304del:p.L1768fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
315 | 13 | 32914066 | rs80359520(chr13-32914066-AATTto-) | AATT | '- | BRCA2 | BRCA2:NM_000059:exon11:c.5574_5577del:p.T1858fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_D1 Breast-ovarian_cancer,_familial_2 Breast_and/or_ovarian_cancer not_provided |
316 | 13 | 32914349 | rs80358814(chr13-32914349-GtoT) | G | T | BRCA2 | BRCA2:NM_000059:exon11:c.G5857T:p.E1953X | stopgain | SO:0001587|nonsense | 51952 | 0 | Tracheoesophageal_fistula Medulloblastoma Malignant_tumor_of_prostate Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_D1 Breast-ovarian_cancer,_familial_2 Glioma_susceptibility_3 Pancreatic_cancer_2 Wilms_tumor_1 Breast_and/or_ovarian_cancer BRCA2-Related_Disorders not_provided |
317 | 13 | 32914356 | rs80358815(chr13-32914356-CtoA) | C | A | BRCA2 | BRCA2:NM_000059:exon11:c.C5864A:p.S1955X | stopgain | SO:0001587|nonsense | 51954 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_specified Breast_and/or_ovarian_cancer not_provided |
318 | 13 | 32914438 | rs80359550(chr13-32914438-Tto-) | T | '- | BRCA2 | BRCA2:NM_000059:exon11:c.5946delT:p.S1982fs | frameshift deletion | '- | '- | 0 | Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_D1 Breast-ovarian_cancer,_familial_2 Pancreatic_cancer_2 BRCA2-Related_Disorders not_provided |
319 | 13 | 32914523 | rs397507823(chr13-32914523-TTto-) | TT | '- | BRCA2 | BRCA2:NM_000059:exon11:c.6031_6032del:p.F2011fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 |
320 | 13 | 32914529 | rs80358840(chr13-32914529-AtoT) | A | T | BRCA2 | BRCA2:NM_000059:exon11:c.A6037T:p.K2013X | stopgain | SO:0001587|nonsense | 38016 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_specified not_provided |
321 | 13 | 32914767 | rs11571658(chr13-32914767-TTto-) | TT | '- | BRCA2 | BRCA2:NM_000059:exon11:c.6275_6276del:p.L2092fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 Breast_and/or_ovarian_cancer not_provided |
322 | 13 | 32914894 | rs80359584(chr13-32914894-TAACTto-) | TAACT | '- | BRCA2 | BRCA2:NM_000059:exon11:c.6402_6406del:p.N2134fs | frameshift deletion | '- | '- | 0 | Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Cancer_of_the_pancreas Breast-ovarian_cancer,_familial_2 not_provided |
323 | 13 | 32914974 | rs80359598(chr13-32914974-ACAAto-) | ACAA | '- | BRCA2 | BRCA2:NM_000059:exon11:c.6482_6485del:p.D2161fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
324 | 13 | 32915134 | rs80359614(chr13-32915134-Tto-) | T | '- | BRCA2 | BRCA2:NM_000059:exon11:c.6642delT:p.T2214fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 Breast_and/or_ovarian_cancer not_provided |
325 | 13 | 32915136 | rs80359616(chr13-32915136-ACTCto-) | ACTC | '- | BRCA2 | BRCA2:NM_000059:exon11:c.6644_6647del:p.Y2215fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_specified not_provided |
326 | 13 | 32918791 | rs886040935(chr13-32918791-GtoA) | G | A | BRCA2 | . | . | SO:0001575|splice_donor_variant | 267665 | 0 | Breast-ovarian_cancer,_familial_2 |
327 | 13 | 32920968 | rs80359629(chr13-32920968-AATAto-) | AATA | '- | BRCA2 | BRCA2:NM_000059:exon13:c.6942_6945del:p.T2314fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
328 | 13 | 32921023 | rs754611265(chr13-32921023--toT) | '- | T | BRCA2 | BRCA2:NM_000059:exon13:c.6998dupT:p.V2333fs | frameshift insertion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
329 | 13 | 32929170 | rs80358946(chr13-32929170-AtoT) | A | T | BRCA2 | BRCA2:NM_000059:exon14:c.A7180T:p.R2394X | stopgain | SO:0001587|nonsense | 52279 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 |
330 | 13 | 32929426 | rs770042748(chr13-32929426-GtoC) | G | C | BRCA2 | . | . | SO:0001575|splice_donor_variant | 267678 | 0 | Breast-ovarian_cancer,_familial_2 |
331 | 13 | 32930609 | rs80358972(chr13-32930609-CtoT) | C | T | BRCA2 | BRCA2:NM_000059:exon15:c.C7480T:p.R2494X | stopgain | SO:0001587|nonsense | 38099 | 0 | Tracheoesophageal_fistula Medulloblastoma Malignant_tumor_of_prostate Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_D1 Breast-ovarian_cancer,_familial_2 Glioma_susceptibility_3 Pancreatic_cancer_2 Wilms_tumor_1 not_provided |
332 | 13 | 32930687 | rs80358981(chr13-32930687-CtoT) | C | T | BRCA2 | BRCA2:NM_000059:exon15:c.C7558T:p.R2520X | stopgain | SO:0001587|nonsense | 52353 | 0 | Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 Breast-ovarian_cancer,_familial_1 not_specified not_provided |
333 | 13 | 32931944 | rs766251541(chr13-32931944-GTto-) | GT | '- | BRCA2 | BRCA2:NM_000059:exon16:c.7683_7684del:p.Q2561fs | frameshift deletion | '- | '- | 0 | Breast-ovarian_cancer,_familial_2 |
334 | 13 | 32936732 | rs80359013(chr13-32936732-GtoC) | G | C | BRCA2 | BRCA2:NM_000059:exon17:c.G7878C:p.W2626C | nonsynonymous SNV | SO:0001583|missense_variant | 38125 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
335 | 13 | 32937541 | rs397507968(chr13-32937541--toC) | '- | C | BRCA2 | BRCA2:NM_000059:exon18:c.8203dupC:p.P2734fs | frameshift insertion | '- | '- | 0 | Breast-ovarian_cancer,_familial_2 |
336 | 13 | 32945092 | rs397507404(chr13-32945092-GtoA) | G | A | BRCA2 | . | . | SO:0001574|splice_acceptor_variant | 38164 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_D1 Breast-ovarian_cancer,_familial_2 not_provided |
337 | 13 | 32945138 | rs80359714(chr13-32945138-AGto-) | AG | '- | BRCA2 | BRCA2:NM_000059:exon20:c.8533_8534del:p.R2845fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 Breast_and/or_ovarian_cancer not_provided |
338 | 13 | 32953929 | .(chr13-32953929-TGto-) | TG | '- | BRCA2 | BRCA2:NM_000059:exon23:c.8996_8997del:p.L2999fs | frameshift deletion | '- | '- | 0 | . |
339 | 13 | 32953958 | rs80359741(chr13-32953958-TATCAto-) | TATCA | '- | BRCA2 | BRCA2:NM_000059:exon23:c.9025_9029del:p.Y3009fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
340 | 13 | 32953996 | rs397508032(chr13-32953996-AAGAGCTAACATACAGto-) | AAGAGCTAACATACAG | '- | BRCA2 | BRCA2:NM_000059:exon23:c.9063_9078del:p.E3021fs | frameshift deletion | '- | '- | 0 | Breast-ovarian_cancer,_familial_2 |
341 | 13 | 32954222 | rs80359180(chr13-32954222-CtoT) | C | T | BRCA2 | BRCA2:NM_000059:exon24:c.C9196T:p.Q3066X | stopgain | SO:0001587|nonsense | 9347 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_D1 Breast-ovarian_cancer,_familial_2 Breast-ovarian_cancer,_familial_1 not_provided |
342 | 13 | 32954272 | rs80359752(chr13-32954272--toA) | '- | A | BRCA2 | BRCA2:NM_000059:exon24:c.9247dupA:p.V3082fs | frameshift insertion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_provided |
343 | 13 | 32968854 | rs778782209(chr13-32968854--toG) | '- | G | BRCA2 | BRCA2:NM_000059:exon25:c.9286dupG:p.D3095fs | frameshift insertion | '- | '- | 0 | Breast-ovarian_cancer,_familial_2 |
344 | 13 | 32968863 | rs80359200(chr13-32968863-CtoG) | C | G | BRCA2 | BRCA2:NM_000059:exon25:c.C9294G:p.Y3098X | stopgain | SO:0001587|nonsense | 38229 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 Breast-ovarian_cancer,_familial_1 not_provided |
345 | 13 | 32968951 | rs80359212(chr13-32968951-CtoT) | C | T | BRCA2 | BRCA2:NM_000059:exon25:c.C9382T:p.R3128X | stopgain | SO:0001587|nonsense | 52826 | 0 | Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 Breast_and/or_ovarian_cancer not_provided |
346 | 13 | 32972800 | rs397507568(chr13-32972800-CtoT) | C | T | BRCA2 | BRCA2:NM_000059:exon27:c.C10150T:p.R3384X | stopgain | SO:0001587|nonsense | 51049 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Cancer_of_the_pancreas Breast-ovarian_cancer,_familial_2 not_specified |
347 | 13 | 32972824 | rs80359258(chr13-32972824-Ato-) | A | '- | BRCA2 | BRCA2:NM_000059:exon27:c.10174delA:p.K3392fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_2 not_specified not_provided |
348 | 13 | 48942673 | rs764547244(chr13-48942673-CtoT) | C | T | RB1 | RB1:NM_000321:exon11:c.C1060T:p.Q354X | stopgain | '- | '- | 0 | . |
349 | 14 | 45605517 | rs780391120(chr14-45605517-CtoT) | C | T | FANCM | FANCM:NM_001308133:exon1:c.C283T:p.Q95X FANCM:NM_001308134:exon1:c.C283T:p.Q95X FANCM:NM_020937:exon1:c.C283T:p.Q95X | stopgain | '- | '- | 0 | . |
350 | 14 | 45605561 | rs776565420(chr14-45605561--toTGTC) | '- | TGTC | FANCM | FANCM:NM_001308133:exon1:c.327_328insTGTC:p.V109fs FANCM:NM_001308134:exon1:c.327_328insTGTC:p.V109fs FANCM:NM_020937:exon1:c.327_328insTGTC:p.V109fs | frameshift insertion | '- | '- | 0 | . |
351 | 14 | 45606400 | .(chr14-45606400--toT) | '- | T | FANCM | FANCM:NM_001308133:exon2:c.638dupT:p.I213fs FANCM:NM_001308134:exon2:c.638dupT:p.I213fs FANCM:NM_020937:exon2:c.638dupT:p.I213fs | frameshift insertion | '- | '- | 0 | . |
352 | 14 | 45623965 | .(chr14-45623965-GtoT) | G | T | FANCM | FANCM:NM_001308133:exon6:c.G1171T:p.E391X FANCM:NM_001308134:exon7:c.G1249T:p.E417X FANCM:NM_020937:exon7:c.G1249T:p.E417X | stopgain | '- | '- | 0 | . |
353 | 14 | 45628392 | rs797045116(chr14-45628392--toA) | '- | A | FANCM | FANCM:NM_001308133:exon8:c.1413dupA:p.S471fs FANCM:NM_001308134:exon9:c.1491dupA:p.S497fs FANCM:NM_020937:exon9:c.1491dupA:p.S497fs | frameshift insertion | '- | '- | 0 | SPERMATOGENIC_FAILURE_28 not_provided |
354 | 14 | 45628408 | rs764743944(chr14-45628408--toTA) | '- | TA | FANCM | FANCM:NM_001308133:exon8:c.1428_1429insTA:p.I476fs FANCM:NM_001308134:exon9:c.1506_1507insTA:p.I502fs FANCM:NM_020937:exon9:c.1506_1507insTA:p.I502fs | frameshift insertion | '- | '- | 0 | . |
355 | 14 | 45636162 | rs778744393(chr14-45636162-CtoT) | C | T | FANCM | FANCM:NM_001308133:exon10:c.C1720T:p.Q574X FANCM:NM_001308134:exon11:c.C1798T:p.Q600X FANCM:NM_020937:exon11:c.C1798T:p.Q600X | stopgain | '- | '- | 0 | . |
356 | 14 | 45644540 | rs768006618(chr14-45644540-AAAAto-) | AAAA | '- | FANCM | FANCM:NM_001308133:exon13:c.2505_2508del:p.I835fs FANCM:NM_020937:exon14:c.2583_2586del:p.I861fs | frameshift deletion | '- | '- | 0 | not_provided |
357 | 14 | 45645045 | rs759378949(chr14-45645045-CtoT) | C | T | FANCM | FANCM:NM_001308133:exon13:c.C3010T:p.R1004X FANCM:NM_020937:exon14:c.C3088T:p.R1030X | stopgain | '- | '- | 0 | . |
358 | 14 | 45650692 | .(chr14-45650692-Ato-) | A | '- | FANCM | FANCM:NM_001308133:exon14:c.4204delA:p.K1402fs FANCM:NM_020937:exon15:c.4282delA:p.K1428fs | frameshift deletion | '- | '- | 0 | . |
359 | 14 | 45654441 | rs770547965(chr14-45654441-Gto-) | G | '- | FANCM | FANCM:NM_001308133:exon17:c.4459delG:p.D1487fs FANCM:NM_020937:exon18:c.4537delG:p.D1513fs | frameshift deletion | '- | '- | 0 | . |
360 | 14 | 45658445 | rs758498345(chr14-45658445--toA) | '- | A | FANCM | FANCM:NM_001308133:exon19:c.5143dupA:p.D1714fs FANCM:NM_020937:exon20:c.5221dupA:p.D1740fs | frameshift insertion | '- | '- | 0 | . |
361 | 14 | 45658566 | rs754297345(chr14-45658566-GtoT) | G | T | FANCM | . | . | '- | '- | 0 | . |
362 | 14 | 45665564 | rs778451008(chr14-45665564-Cto-) | C | '- | FANCM | FANCM:NM_001308133:exon20:c.5452delC:p.Q1818fs FANCM:NM_020937:exon21:c.5530delC:p.Q1844fs | frameshift deletion | '- | '- | 0 | . |
363 | 14 | 45667894 | .(chr14-45667894-Cto-) | C | '- | FANCM | FANCM:NM_001308133:exon21:c.5686delC:p.L1896X FANCM:NM_020937:exon22:c.5764delC:p.L1922X | stopgain | '- | '- | 0 | . |
364 | 1 | 45479335 | rs397514765(chr1-45479335-CtoT) | C | T | UROD | UROD:NM_000374:exon5:c.C346T:p.Q116X | stopgain | SO:0001587|nonsense | 64679 | 0 | Porphyria_cutanea_tarda |
365 | 1 | 45479386 | rs759934980(chr1-45479386-TAto-) | TA | '- | UROD | UROD:NM_000374:exon5:c.397_398del:p.Y133fs | frameshift deletion | '- | '- | 0 | . |
366 | 1 | 45479457 | rs753220529(chr1-45479457--toG) | '- | G | UROD | UROD:NM_000374:exon5:c.469dupG:p.G156fs | frameshift insertion | '- | '- | 0 | . |
367 | 1 | 45479743 | rs145195562(chr1-45479743-GtoC) | G | C | UROD | . | . | SO:0001575|splice_donor_variant | 67 | 0 | Familial_porphyria_cutanea_tarda |
368 | 1 | 45480648 | rs121918065(chr1-45480648-CtoA) | C | A | UROD | UROD:NM_000374:exon9:c.C912A:p.N304K | nonsynonymous SNV | SO:0001583|missense_variant | 75 | 0 | Familial_porphyria_cutanea_tarda |
369 | 1 | 45481159 | rs753192121(chr1-45481159-CtoT) | C | T | UROD | UROD:NM_000374:exon10:c.C1093T:p.R365X | stopgain | '- | '- | 0 | . |
370 | 1 | 45797186 | rs587780078(chr1-45797186--toCC) | '- | CC | MUTYH | MUTYH:NM_001350650:exon12:c.799_800insGG:p.E267fs MUTYH:NM_001350651:exon12:c.799_800insGG:p.E267fs MUTYH:NM_001048171:exon13:c.1186_1187insGG:p.E396fs MUTYH:NM_001048172:exon13:c.1147_1148insGG:p.E383fs MUTYH:NM_001048173:exon13:c.1144_1145insGG:p.E382fs MUTYH:NM_001048174:exon13:c.1144_1145insGG:p.E382fs MUTYH:NM_001128425:exon13:c.1228_1229insGG:p.E410fs MUTYH:NM_001293190:exon13:c.1189_1190insGG:p.E397fs MUTYH:NM_001293191:exon13:c.1177_1178insGG:p.E393fs MUTYH:NM_001293192:exon13:c.868_869insGG:p.E290fs MUTYH:NM_001293196:exon13:c.868_869insGG:p.E290fs MUTYH:NM_012222:exon13:c.1219_1220insGG:p.E407fs MUTYH:NM_001293195:exon14:c.1144_1145insGG:p.E382fs | frameshift insertion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Carcinoma_of_colon MYH-associated_polyposis MUTYH-associated_polyposis not_provided |
371 | 1 | 45798117 | rs140342925(chr1-45798117-CtoT) | C | T | MUTYH | MUTYH:NM_001350650:exon8:c.G305A:p.R102H MUTYH:NM_001350651:exon8:c.G305A:p.R102H MUTYH:NM_001048171:exon9:c.G692A:p.R231H MUTYH:NM_001048172:exon9:c.G653A:p.R218H MUTYH:NM_001048173:exon9:c.G650A:p.R217H MUTYH:NM_001048174:exon9:c.G650A:p.R217H MUTYH:NM_001128425:exon9:c.G734A:p.R245H MUTYH:NM_001293190:exon9:c.G695A:p.R232H MUTYH:NM_001293191:exon9:c.G683A:p.R228H MUTYH:NM_001293192:exon9:c.G374A:p.R125H MUTYH:NM_001293196:exon9:c.G374A:p.R125H MUTYH:NM_012222:exon9:c.G725A:p.R242H MUTYH:NM_001293195:exon10:c.G650A:p.R217H | nonsynonymous SNV | SO:0001583|missense_variant | 140877 | 0 | Neoplasm_of_stomach Pilomatrixoma Hereditary_cancer-predisposing_syndrome MYH-associated_polyposis not_provided |
372 | 1 | 45800165 | rs587780088(chr1-45800165-GtoA) | G | A | MUTYH | MUTYH:NM_001048171:exon2:c.C55T:p.R19X MUTYH:NM_001048172:exon2:c.C13T:p.R5X MUTYH:NM_001048173:exon2:c.C13T:p.R5X MUTYH:NM_001048174:exon2:c.C13T:p.R5X MUTYH:NM_001128425:exon2:c.C55T:p.R19X MUTYH:NM_001293190:exon2:c.C55T:p.R19X MUTYH:NM_001293191:exon2:c.C13T:p.R5X MUTYH:NM_012222:exon2:c.C55T:p.R19X MUTYH:NM_001293195:exon3:c.C13T:p.R5X | stopgain | SO:0001587|nonsense SO:0001623|5_prime_UTR_variant | 127845 | 0 | Hereditary_cancer-predisposing_syndrome Carcinoma_of_colon MYH-associated_polyposis not_provided |
373 | 14 | 65472961 | rs143291877(chr14-65472961-AtoG) | A | G | MAX | MAX:NM_001271069:exon3:c.T186C:p.Y62Y MAX:NM_197957:exon4:c.T213C:p.Y71Y | synonymous SNV | '- | '- | 0 | . |
374 | 14 | 65544703 | rs387906650(chr14-65544703-GtoA) | G | A | MAX | MAX:NM_145112:exon3:c.C196T:p.R66X MAX:NM_002382:exon4:c.C223T:p.R75X MAX:NM_145113:exon4:c.C223T:p.R75X | stopgain | SO:0001587|nonsense SO:0001623|5_prime_UTR_variant SO:0001627|intron_variant | 29786 | 0 | Hereditary_cancer-predisposing_syndrome Hereditary_Paraganglioma-Pheochromocytoma_Syndromes Pheochromocytoma,_susceptibility_to |
375 | 14 | 65551008 | rs756875895(chr14-65551008-Gto-) | G | '- | MAX | MAX:NM_001271068:exon3:c.154delC:p.L52fs MAX:NM_145114:exon4:c.181delC:p.L61fs | frameshift deletion | '- | '- | 0 | . |
376 | 14 | 65551019 | rs746638580(chr14-65551019-TtoA) | T | A | MAX | . | . | '- | '- | 0 | . |
377 | 14 | 65569036 | rs752477890(chr14-65569036-CtoA) | C | A | MAX | MAX:NM_001271068:exon1:c.G22T:p.E8X MAX:NM_001271069:exon1:c.G22T:p.E8X MAX:NM_002382:exon1:c.G22T:p.E8X MAX:NM_145112:exon1:c.G22T:p.E8X MAX:NM_145113:exon1:c.G22T:p.E8X MAX:NM_145114:exon1:c.G22T:p.E8X MAX:NM_197957:exon1:c.G22T:p.E8X | stopgain | '- | '- | 0 | . |
378 | 14 | 94849023 | rs199422210(chr14-94849023-GtoA) | G | A | SERPINA1 | SERPINA1:NM_000295:exon2:c.C552T:p.Y184Y SERPINA1:NM_001002235:exon2:c.C552T:p.Y184Y SERPINA1:NM_001127700:exon2:c.C552T:p.Y184Y SERPINA1:NM_001127702:exon3:c.C552T:p.Y184Y SERPINA1:NM_001127706:exon3:c.C552T:p.Y184Y SERPINA1:NM_001127707:exon3:c.C552T:p.Y184Y SERPINA1:NM_001002236:exon4:c.C552T:p.Y184Y SERPINA1:NM_001127701:exon4:c.C552T:p.Y184Y SERPINA1:NM_001127703:exon4:c.C552T:p.Y184Y SERPINA1:NM_001127704:exon4:c.C552T:p.Y184Y SERPINA1:NM_001127705:exon4:c.C552T:p.Y184Y | synonymous SNV | SO:0001819|synonymous_variant | 290979 | 0 | not_provided |
379 | 14 | 95566116 | rs765059994(chr14-95566116-CtoG) | C | G | DICER1 | . | . | '- | '- | 0 | . |
380 | 14 | 95582919 | rs767030430(chr14-95582919-TtoG) | T | G | DICER1 | DICER1:NM_001195573:exon9:c.A1623C:p.T541T DICER1:NM_001271282:exon10:c.A1623C:p.T541T DICER1:NM_001291628:exon10:c.A1623C:p.T541T DICER1:NM_177438:exon10:c.A1623C:p.T541T DICER1:NM_030621:exon12:c.A1623C:p.T541T | synonymous SNV | '- | '- | 0 | . |
381 | 15 | 40504844 | rs28989181(chr15-40504844-CtoT) | C | T | BUB1B | BUB1B:NM_001211:exon19:c.C2530T:p.L844F | nonsynonymous SNV | SO:0001583|missense_variant | 6761 | 0 | Premature_chromatid_separation_trait Mosaic_variegated_aneuploidy_syndrome_1 |
382 | 15 | 40509781 | rs28989183(chr15-40509781-GtoC) | G | C | BUB1B | BUB1B:NM_001211:exon21:c.G2763C:p.Q921H | nonsynonymous SNV | SO:0001583|missense_variant | 6762 | 0 | Mosaic_variegated_aneuploidy_syndrome Premature_chromatid_separation_trait Mosaic_variegated_aneuploidy_syndrome_1 |
383 | 15 | 40512842 | rs28989185(chr15-40512842-TtoC) | T | C | BUB1B | BUB1B:NM_001211:exon23:c.T3035C:p.L1012P | nonsynonymous SNV | SO:0001583|missense_variant | 6765 | 0 | Premature_chromatid_separation_trait Mosaic_variegated_aneuploidy_syndrome_1 |
384 | 15 | 80460605 | rs80338895(chr15-80460605-GtoT) | G | T | FAH | . | . | SO:0001574|splice_acceptor_variant | 11874 | 0 | Hypertyrosinemia Tyrosinemia_type_I not_provided |
385 | 15 | 80465431 | rs80338898(chr15-80465431-CtoT) | C | T | FAH | FAH:NM_000137:exon9:c.C782T:p.P261L | nonsynonymous SNV | SO:0001583|missense_variant | 21058 | 0 | Tyrosinemia_type_I not_provided |
386 | 15 | 80472514 | rs80338900(chr15-80472514-GtoA) | G | A | FAH | FAH:NM_000137:exon12:c.G1009A:p.G337S | nonsynonymous SNV | SO:0001583|missense_variant | 11869 | 0 | Tyrosinemia_type_I |
387 | 15 | 80473390 | rs121965075(chr15-80473390-GtoT) | G | T | FAH | FAH:NM_000137:exon13:c.G1069T:p.E357X | stopgain | SO:0001587|nonsense | 11871 | 0 | Tyrosinemia_type_I |
388 | 15 | 80473411 | rs121965076(chr15-80473411-GtoT) | G | T | FAH | FAH:NM_000137:exon13:c.G1090T:p.E364X | stopgain | SO:0001587|nonsense | 11867 | 0 | Tyrosinemia_type_I |
389 | 15 | 89858549 | rs121918164(chr15-89858549-CtoT) | C | T | FANCI | FANCI:NM_018193:exon36:c.C3673T:p.R1225X FANCI:NM_001113378:exon37:c.C3853T:p.R1285X | stopgain | SO:0001587|nonsense | 973 | 0 | Fanconi_anemia,_complementation_group_I not_provided |
390 | 15 | 91304245 | rs200389141(chr15-91304245-CtoT) | C | T | BLM | BLM:NM_000057:exon7:c.C1642T:p.Q548X BLM:NM_001287247:exon7:c.C1642T:p.Q548X BLM:NM_001287248:exon7:c.C517T:p.Q173X BLM:NM_001287246:exon8:c.C1642T:p.Q548X | stopgain | SO:0001587|nonsense | 127478 | 0 | Bloom_syndrome Hereditary_cancer-predisposing_syndrome not_provided |
391 | 15 | 91308549 | rs367543028(chr15-91308549-CtoT) | C | T | BLM | BLM:NM_000057:exon9:c.C2098T:p.Q700X BLM:NM_001287247:exon9:c.C2098T:p.Q700X BLM:NM_001287248:exon9:c.C973T:p.Q325X BLM:NM_001287246:exon10:c.C2098T:p.Q700X | stopgain | SO:0001587|nonsense | 42067 | 0 | Bloom_syndrome not_provided |
392 | 15 | 91312767 | rs367543024(chr15-91312767-AGto-) | AG | '- | BLM | BLM:NM_000057:exon12:c.2506_2507del:p.R836fs BLM:NM_001287247:exon12:c.2506_2507del:p.R836fs BLM:NM_001287248:exon12:c.1381_1382del:p.R461fs BLM:NM_001287246:exon13:c.2506_2507del:p.R836fs | frameshift deletion | '- | '- | 0 | Bloom_syndrome Hereditary_cancer-predisposing_syndrome |
393 | 15 | 91326139 | rs367543039(chr15-91326139-GtoA) | G | A | BLM | BLM:NM_000057:exon13:c.G2643A:p.W881X BLM:NM_001287247:exon13:c.G2643A:p.W881X BLM:NM_001287248:exon13:c.G1518A:p.W506X BLM:NM_001287246:exon14:c.G2643A:p.W881X | stopgain | SO:0001587|nonsense | 42072 | 0 | Bloom_syndrome |
394 | 15 | 91328183 | rs587779884(chr15-91328183-CtoT) | C | T | BLM | BLM:NM_000057:exon14:c.C2695T:p.R899X BLM:NM_001287247:exon14:c.C2695T:p.R899X BLM:NM_001287248:exon14:c.C1570T:p.R524X BLM:NM_001287246:exon15:c.C2695T:p.R899X | stopgain | SO:0001587|nonsense | 127491 | 0 | Bloom_syndrome not_provided |
395 | 15 | 91333910 | rs367543034(chr15-91333910-GtoT) | G | T | BLM | BLM:NM_000057:exon15:c.G2855T:p.G952V BLM:NM_001287247:exon15:c.G2855T:p.G952V BLM:NM_001287248:exon15:c.G1730T:p.G577V BLM:NM_001287246:exon16:c.G2855T:p.G952V | nonsynonymous SNV | SO:0001583|missense_variant | 42074 | 0 | Bloom_syndrome |
396 | 15 | 91346807 | rs587783037(chr15-91346807-CtoT) | C | T | BLM | BLM:NM_000057:exon18:c.C3415T:p.R1139X BLM:NM_001287248:exon18:c.C2290T:p.R764X BLM:NM_001287246:exon19:c.C3415T:p.R1139X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 156484 | 0 | Bloom_syndrome |
397 | 16 | 14041518 | rs149364215(chr16-14041518-CtoA) | C | A | ERCC4 | ERCC4:NM_005236:exon11:c.C2065A:p.R689S | nonsynonymous SNV | SO:0001583|missense_variant | 55824 | 0 | Fanconi_anemia,_complementation_group_Q |
398 | 16 | 2100410 | rs140618379(chr16-2100410-AtoG) | A | G | TSC2 | TSC2:NM_001318829:exon2:c.A1G:p.M1V TSC2:NM_000548:exon3:c.A148G:p.M50V TSC2:NM_001077183:exon3:c.A148G:p.M50V TSC2:NM_001114382:exon3:c.A148G:p.M50V TSC2:NM_001318827:exon3:c.A148G:p.M50V TSC2:NM_001318832:exon3:c.A181G:p.M61V | nonsynonymous SNV | SO:0001583|missense_variant SO:0001623|5_prime_UTR_variant | 237966 | 0 | Tuberous_sclerosis_2 not_specified not_provided |
399 | 16 | 2137941 | .(chr16-2137941--toGGTAG) | '- | GGTAG | TSC2 | TSC2:NM_001318831:exon35:c.4335_4336insGGTAG:p.K1445fs TSC2:NM_001318827:exon36:c.4758_4759insGGTAG:p.K1586fs TSC2:NM_001318829:exon36:c.4722_4723insGGTAG:p.K1574fs TSC2:NM_001077183:exon37:c.4866_4867insGGTAG:p.K1622fs TSC2:NM_001318832:exon37:c.4899_4900insGGTAG:p.K1633fs TSC2:NM_001114382:exon38:c.4998_4999insGGTAG:p.K1666fs TSC2:NM_000548:exon39:c.5067_5068insGGTAG:p.K1689fs | frameshift insertion | '- | '- | 0 | . |
400 | 16 | 23614792 | rs118203998(chr16-23614792-GtoC) | G | C | PALB2 | PALB2:NM_024675:exon13:c.C3549G:p.Y1183X | stopgain | SO:0001587|nonsense | 1245 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_N Pancreatic_cancer_3 Breast_cancer,_susceptibility_to not_specified not_provided |
401 | 16 | 23632683 | rs180177132(chr16-23632683-CtoT) | C | T | PALB2 | PALB2:NM_024675:exon10:c.G3113A:p.W1038X | stopgain | SO:0001587|nonsense | 126711 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast_cancer,_susceptibility_to not_provided |
402 | 16 | 23632748 | rs515726104(chr16-23632748-Ato-) | A | '- | PALB2 | PALB2:NM_024675:exon10:c.3048delT:p.F1016fs | frameshift deletion | '- | '- | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
403 | 16 | 23632800 | rs754465466(chr16-23632800-CtoG) | C | G | PALB2 | . | . | '- | '- | 0 | . |
404 | 16 | 23640545 | rs770996884(chr16-23640545-GtoA) | G | A | PALB2 | PALB2:NM_024675:exon6:c.C2566T:p.Q856X | stopgain | '- | '- | 0 | . |
405 | 16 | 23641218 | rs180177110(chr16-23641218-GtoA) | G | A | PALB2 | PALB2:NM_024675:exon5:c.C2257T:p.R753X | stopgain | SO:0001587|nonsense | 142403 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
406 | 16 | 23641423 | rs587782680(chr16-23641423-Gto-) | G | '- | PALB2 | PALB2:NM_024675:exon5:c.2052delC:p.P684fs | frameshift deletion | '- | '- | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
407 | 16 | 23646388 | rs515726071(chr16-23646388-Gto-) | G | '- | PALB2 | PALB2:NM_024675:exon4:c.1479delC:p.P493fs | frameshift deletion | '- | '- | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
408 | 16 | 23647108 | rs515726126(chr16-23647108--toA) | '- | A | PALB2 | PALB2:NM_024675:exon4:c.758dupT:p.L253fs | frameshift insertion | '- | '- | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
409 | 16 | 23647268 | rs587782081(chr16-23647268-Ato-) | A | '- | PALB2 | PALB2:NM_024675:exon4:c.599delT:p.L200X | stopgain | '- | '- | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
410 | 16 | 23647357 | rs515726123(chr16-23647357-TCto-) | TC | '- | PALB2 | PALB2:NM_024675:exon4:c.509_510del:p.R170fs | frameshift deletion | '- | '- | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Pancreatic_cancer_3 PALB2-Related_Disorders not_provided |
411 | 16 | 23647379 | rs745533713(chr16-23647379-ACto-) | AC | '- | PALB2 | PALB2:NM_024675:exon4:c.487_488del:p.V163fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome not_provided |
412 | 16 | 23647443 | rs587782005(chr16-23647443-TtoA) | T | A | PALB2 | PALB2:NM_024675:exon4:c.A424T:p.K142X | stopgain | SO:0001587|nonsense | 141779 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
413 | 16 | 23649207 | rs180177143(chr16-23649207-ACAAto-) | ACAA | '- | PALB2 | PALB2:NM_024675:exon3:c.172_175del:p.L58fs | frameshift deletion | '- | '- | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Pancreatic_cancer_3 not_provided |
414 | 16 | 23649415 | rs761533286(chr16-23649415-GtoA) | G | A | PALB2 | PALB2:NM_024675:exon2:c.C84T:p.Y28Y | synonymous SNV | SO:0001819|synonymous_variant | 184820 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_specified not_provided |
415 | 16 | 23649420 | rs878855122(chr16-23649420-CtoA) | C | A | PALB2 | PALB2:NM_024675:exon2:c.G79T:p.E27X | stopgain | SO:0001587|nonsense | 241570 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
416 | 16 | 23652477 | rs756519825(chr16-23652477-AtoG) | A | G | PALB2 | PALB2:NM_024675:exon1:c.T2C:p.M1T | nonsynonymous SNV | SO:0001583|missense_variant | 241558 | 0 | Familial_cancer_of_breast |
417 | 16 | 50785560 | rs758217895(chr16-50785560-AtoT) | A | T | CYLD | CYLD:NM_001042355:exon4:c.A550T:p.K184X CYLD:NM_001042412:exon4:c.A550T:p.K184X CYLD:NM_015247:exon5:c.A550T:p.K184X | stopgain | '- | '- | 0 | . |
418 | 16 | 68846167 | rs876660771(chr16-68846167-GtoA) | G | A | CDH1 | . | . | SO:0001575|splice_donor_variant | 233979 | 0 | Hereditary_cancer-predisposing_syndrome Hereditary_diffuse_gastric_cancer not_provided |
419 | 16 | 68847225 | rs587782798(chr16-68847225-CtoT) | C | T | CDH1 | CDH1:NM_004360:exon9:c.C1147T:p.Q383X | stopgain | SO:0001587|nonsense SO:0001623|5_prime_UTR_variant SO:0001627|intron_variant | 142888 | 0 | Hereditary_cancer-predisposing_syndrome |
420 | 16 | 68847452 | rs760960409(chr16-68847452--toC) | '- | C | CDH1 | . | . | '- | '- | 0 | . |
421 | 16 | 68847459 | rs768365828(chr16-68847459--toC) | '- | C | CDH1 | . | . | '- | '- | 0 | . |
422 | 16 | 89833593 | rs752160950(chr16-89833593-GtoA) | G | A | FANCA | FANCA:NM_000135:exon27:c.C2557T:p.R853X FANCA:NM_001286167:exon27:c.C2557T:p.R853X | stopgain | SO:0001587|nonsense | 192384 | 0 | Fanconi_anemia Fanconi_anemia,_complementation_group_A |
423 | 16 | 89858442 | rs397507552(chr16-89858442-CCAAto-) | CCAA | '- | FANCA | FANCA:NM_000135:exon13:c.1115_1118del:p.V372fs FANCA:NM_001286167:exon13:c.1115_1118del:p.V372fs | frameshift deletion | '- | '- | 0 | Fanconi_anemia Fanconi_anemia,_complementation_group_A |
424 | 17 | 29497016 | .(chr17-29497016-GtoT) | G | T | NF1 | . | . | '- | '- | 0 | . |
425 | 17 | 29509663 | .(chr17-29509663-GATGAAAACAACAto-) | GATGAAAACAACA | '- | NF1 | NF1:NM_000267:exon8:c.868_880del:p.D290fs NF1:NM_001042492:exon8:c.868_880del:p.D290fs NF1:NM_001128147:exon8:c.868_880del:p.D290fs | frameshift deletion | '- | '- | 0 | . |
426 | 17 | 29533315 | rs778405030(chr17-29533315-CtoT) | C | T | NF1 | NF1:NM_000267:exon12:c.C1318T:p.R440X NF1:NM_001042492:exon12:c.C1318T:p.R440X NF1:NM_001128147:exon12:c.C1318T:p.R440X | stopgain | SO:0001587|nonsense | 230673 | 0 | Hereditary_cancer-predisposing_syndrome Neurofibromatosis,_type_1 not_provided |
427 | 17 | 29541542 | rs137854557(chr17-29541542-AtoG) | A | G | NF1 | NF1:NM_000267:exon13:c.A1466G:p.Y489C NF1:NM_001042492:exon13:c.A1466G:p.Y489C NF1:NM_001128147:exon13:c.A1466G:p.Y489C | nonsynonymous SNV | SO:0001583|missense_variant | 354 | 0 | Hereditary_cancer-predisposing_syndrome Neurofibromatosis,_type_1 not_provided |
428 | 17 | 29550494 | rs786202782(chr17-29550494-TAACto-) | TAAC | '- | NF1 | NF1:NM_000267:exon16:c.1754_1757del:p.L585fs NF1:NM_001042492:exon16:c.1754_1757del:p.L585fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Neurofibromatosis,_type_1 not_provided |
429 | 17 | 29550587 | .(chr17-29550587-TtoG) | T | G | NF1 | . | . | '- | '- | 0 | . |
430 | 17 | 29553474 | rs779546178(chr17-29553474-GtoT) | G | T | NF1 | NF1:NM_000267:exon18:c.G2023T:p.G675X NF1:NM_001042492:exon18:c.G2023T:p.G675X | stopgain | '- | '- | 0 | . |
431 | 17 | 29562981 | rs376576925(chr17-29562981-CtoT) | C | T | NF1 | NF1:NM_000267:exon29:c.C3916T:p.R1306X NF1:NM_001042492:exon29:c.C3916T:p.R1306X | stopgain | SO:0001587|nonsense | 404592 | 0 | Neurofibromatosis,_type_1 not_provided |
432 | 17 | 29576111 | rs137854560(chr17-29576111-CtoT) | C | T | NF1 | NF1:NM_000267:exon30:c.C4084T:p.R1362X NF1:NM_001042492:exon30:c.C4084T:p.R1362X | stopgain | SO:0001587|nonsense | 344 | 0 | Hereditary_cancer-predisposing_syndrome Neurofibromatosis,_type_1 not_provided |
433 | 17 | 29585518 | rs137854550(chr17-29585518-AtoG) | A | G | NF1 | NF1:NM_000267:exon31:c.A4267G:p.K1423E NF1:NM_001042492:exon32:c.A4330G:p.K1444E | nonsynonymous SNV | SO:0001583|missense_variant | 336 | 0 | Axillary_freckling Neurofibromas Multiple_cafe-au-lait_spots Optic_nerve_glioma Hereditary_cancer-predisposing_syndrome Neurofibromatosis,_type_1 not_provided |
434 | 17 | 29588751 | rs760703505(chr17-29588751-CtoT) | C | T | NF1 | NF1:NM_000267:exon34:c.C4537T:p.R1513X NF1:NM_001042492:exon35:c.C4600T:p.R1534X | stopgain | SO:0001587|nonsense | 220152 | 0 | Thoracic_scoliosis Multiple_cafe-au-lait_spots Subcutaneous_neurofibromas Hereditary_cancer-predisposing_syndrome Neurofibromatosis,_type_1 not_provided |
435 | 17 | 29588760 | .(chr17-29588760--toA) | '- | A | NF1 | NF1:NM_000267:exon34:c.4547dupA:p.D1516fs NF1:NM_001042492:exon35:c.4610dupA:p.D1537fs | frameshift insertion | '- | '- | 0 | . |
436 | 17 | 29653269 | rs773428383(chr17-29653269-AAGTto-) | AAGT | '- | NF1 | NF1:NM_000267:exon36:c.5204_5205del:p.K1735fs NF1:NM_001042492:exon37:c.5267_5268del:p.K1756fs | frameshift deletion | '- | '- | 0 | . |
437 | 17 | 29657397 | .(chr17-29657397-TtoG) | T | G | NF1 | NF1:NM_000267:exon38:c.T5630G:p.L1877X NF1:NM_001042492:exon39:c.T5693G:p.L1898X | stopgain | '- | '- | 0 | . |
438 | 17 | 29663741 | .(chr17-29663741-Cto-) | C | '- | NF1 | NF1:NM_000267:exon41:c.6173delC:p.A2058fs NF1:NM_001042492:exon42:c.6236delC:p.A2079fs | frameshift deletion | '- | '- | 0 | . |
439 | 17 | 29665757 | rs772295894(chr17-29665757-CtoG) | C | G | NF1 | NF1:NM_000267:exon45:c.C6792G:p.Y2264X NF1:NM_001042492:exon46:c.C6855G:p.Y2285X | stopgain | SO:0001587|nonsense | 439973 | 0 | Hereditary_cancer-predisposing_syndrome Neurofibromatosis,_type_1 not_provided |
440 | 17 | 29677227 | rs786202457(chr17-29677227-CtoT) | C | T | NF1 | NF1:NM_000267:exon49:c.C7285T:p.R2429X NF1:NM_001042492:exon50:c.C7348T:p.R2450X | stopgain | SO:0001587|nonsense | 185789 | 0 | Lisch_nodules Subcutaneous_neurofibromas Hereditary_cancer-predisposing_syndrome Neurofibromatosis,_type_1 not_provided |
441 | 17 | 29701148 | rs587781523(chr17-29701148-GtoA) | G | A | NF1 | NF1:NM_000267:exon57:c.G8432A:p.R2811H NF1:NM_001042492:exon58:c.G8495A:p.R2832H | nonsynonymous SNV | SO:0001583|missense_variant | 141139 | 0 | Hereditary_cancer-predisposing_syndrome Neurofibromatosis,_type_1 |
442 | 17 | 33434045 | rs773906955(chr17-33434045-GtoA) | G | A | RAD51D | RAD51D:NM_001142571:exon5:c.C502T:p.Q168X RAD51D:NM_002878:exon5:c.C442T:p.Q148X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 231972 | 0 | Hereditary_cancer-predisposing_syndrome not_provided |
443 | 17 | 33443985 | rs749021705(chr17-33443985-CtoG) | C | G | RAD51D | RAD51D:NM_001142571:exon3:c.G216C:p.W72C | nonsynonymous SNV | '- | '- | 0 | . |
444 | 17 | 33445581 | rs775045445(chr17-33445581-CtoT) | C | T | RAD51D | RAD51D:NM_002878:exon3:c.G202A:p.G68S | nonsynonymous SNV | SO:0001583|missense_variant SO:0001627|intron_variant | 410548 | 0 | Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_4 |
445 | 17 | 33445585 | rs200810304(chr17-33445585-CtoA) | C | A | RAD51D | RAD51D:NM_002878:exon3:c.G198T:p.V66V | synonymous SNV | SO:0001627|intron_variant SO:0001819|synonymous_variant | 184496 | 0 | Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_4 not_specified |
446 | 17 | 33446143 | rs374730714(chr17-33446143-CtoT) | C | T | RAD51D | RAD51D:NM_001142571:exon2:c.G131A:p.G44D RAD51D:NM_002878:exon2:c.G131A:p.G44D RAD51D:NM_133629:exon2:c.G131A:p.G44D | nonsynonymous SNV | SO:0001583|missense_variant | 184924 | 0 | Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_4 not_provided |
447 | 17 | 38798806 | rs142279746(chr17-38798806-CtoA) | C | A | SMARCE1 | SMARCE1:NM_003079:exon4:c.G57T:p.M19I | nonsynonymous SNV | SO:0001583|missense_variant | 407067 | 0 | Meningioma,_familial |
448 | 17 | 41199682 | rs397509284(chr17-41199682-CtoT) | C | T | BRCA1 | BRCA1:NM_007297:exon21:c.G5304A:p.W1768X BRCA1:NM_007298:exon21:c.G2133A:p.W711X BRCA1:NM_007294:exon22:c.G5445A:p.W1815X BRCA1:NM_007300:exon23:c.G5508A:p.W1836X | stopgain | SO:0001583|missense_variant SO:0001587|nonsense | 55581 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 |
449 | 17 | 41201181 | rs80357069(chr17-41201181-CtoA) | C | A | BRCA1 | BRCA1:NM_007297:exon20:c.G5222T:p.G1741V BRCA1:NM_007298:exon20:c.G2051T:p.G684V BRCA1:NM_007294:exon21:c.G5363T:p.G1788V BRCA1:NM_007300:exon22:c.G5426T:p.G1809V | nonsynonymous SNV | SO:0001583|missense_variant SO:0001627|intron_variant | 37660 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
450 | 17 | 41201209 | rs80357590(chr17-41201209-Gto-) | G | '- | BRCA1 | BRCA1:NM_007297:exon20:c.5194delC:p.Q1732fs BRCA1:NM_007298:exon20:c.2023delC:p.Q675fs BRCA1:NM_007294:exon21:c.5335delC:p.Q1779fs BRCA1:NM_007300:exon22:c.5398delC:p.Q1800fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
451 | 17 | 41203135 | rs80358099(chr17-41203135-CtoA) | C | A | BRCA1 | . | . | SO:0001574|splice_acceptor_variant | 55502 | 0 | Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
452 | 17 | 41209072 | rs758739620(chr17-41209072-TtoC) | T | C | BRCA1 | BRCA1:NM_007297:exon18:c.A5133G:p.R1711R BRCA1:NM_007298:exon18:c.A1962G:p.R654R BRCA1:NM_007294:exon19:c.A5274G:p.R1758R BRCA1:NM_007299:exon19:c.A1962G:p.R654R BRCA1:NM_007300:exon20:c.A5337G:p.R1779R | synonymous SNV | SO:0001819|synonymous_variant | 232795 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_specified |
453 | 17 | 41209079 | rs80357906(chr17-41209079--toG) | '- | G | BRCA1 | BRCA1:NM_007297:exon18:c.5125dupC:p.Q1709fs BRCA1:NM_007298:exon18:c.1954dupC:p.Q652fs BRCA1:NM_007294:exon19:c.5266dupC:p.Q1756fs BRCA1:NM_007299:exon19:c.1954dupC:p.Q652fs BRCA1:NM_007300:exon20:c.5329dupC:p.Q1777fs | frameshift insertion | '- | '- | 0 | Pancreatic_cancer,_susceptibility_to Neoplasm_of_ovary Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Porokeratosis_punctata_palmaris_et_plantaris Breast-ovarian_cancer,_familial_1 Breast_and/or_ovarian_cancer not_provided |
454 | 17 | 41209095 | rs80357123(chr17-41209095-GtoA) | G | A | BRCA1 | BRCA1:NM_007297:exon18:c.C5110T:p.R1704X BRCA1:NM_007298:exon18:c.C1939T:p.R647X BRCA1:NM_007294:exon19:c.C5251T:p.R1751X BRCA1:NM_007299:exon19:c.C1939T:p.R647X BRCA1:NM_007300:exon20:c.C5314T:p.R1772X | stopgain | SO:0001587|nonsense | 55480 | 0 | Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
455 | 17 | 41215906 | rs80357997(chr17-41215906-Cto-) | C | '- | BRCA1 | BRCA1:NM_007297:exon16:c.4996delG:p.V1666X BRCA1:NM_007298:exon16:c.1825delG:p.V609X BRCA1:NM_007294:exon17:c.5137delG:p.V1713X BRCA1:NM_007299:exon17:c.1825delG:p.V609X BRCA1:NM_007300:exon18:c.5200delG:p.V1734X | stopgain | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
456 | 17 | 41215948 | rs55770810(chr17-41215948-GtoA) | G | A | BRCA1 | BRCA1:NM_007297:exon16:c.C4954T:p.R1652W BRCA1:NM_007298:exon16:c.C1783T:p.R595W BRCA1:NM_007294:exon17:c.C5095T:p.R1699W BRCA1:NM_007299:exon17:c.C1783T:p.R595W BRCA1:NM_007300:exon18:c.C5158T:p.R1720W | nonsynonymous SNV | SO:0001583|missense_variant | 55396 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Ovarian_cancer Breast-ovarian_cancer,_familial_1 Fanconi_anemia,_complementation_group_A FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_S Breast_and_colorectal_cancer not_provided |
457 | 17 | 41219666 | rs80357580(chr17-41219666-TTAGto-) | TTAG | '- | BRCA1 | BRCA1:NM_007297:exon15:c.4889_4892del:p.T1630fs BRCA1:NM_007298:exon15:c.1718_1721del:p.T573fs BRCA1:NM_007294:exon16:c.5030_5033del:p.T1677fs BRCA1:NM_007299:exon16:c.1718_1721del:p.T573fs BRCA1:NM_007300:exon17:c.5093_5096del:p.T1698fs | frameshift deletion | '- | '- | 0 | Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 Breast_and/or_ovarian_cancer not_provided |
458 | 17 | 41223242 | rs80357433(chr17-41223242-GtoC) | G | C | BRCA1 | BRCA1:NM_007297:exon14:c.C4548G:p.Y1516X BRCA1:NM_007298:exon14:c.C1377G:p.Y459X BRCA1:NM_007294:exon15:c.C4689G:p.Y1563X BRCA1:NM_007299:exon15:c.C1377G:p.Y459X BRCA1:NM_007300:exon16:c.C4752G:p.Y1584X | stopgain | SO:0001587|nonsense | 37607 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
459 | 17 | 41234477 | rs80357790(chr17-41234477--toT) | '- | T | BRCA1 | BRCA1:NM_007297:exon11:c.4159dupA:p.S1387fs BRCA1:NM_007298:exon11:c.991dupA:p.S331fs BRCA1:NM_007294:exon12:c.4300dupA:p.S1434fs BRCA1:NM_007299:exon12:c.991dupA:p.S331fs BRCA1:NM_007300:exon12:c.4300dupA:p.S1434fs | frameshift insertion | '- | '- | 0 | Breast-ovarian_cancer,_familial_1 |
460 | 17 | 41234535 | rs80357981(chr17-41234535-Cto-) | C | '- | BRCA1 | BRCA1:NM_007297:exon11:c.4102delG:p.E1368fs BRCA1:NM_007298:exon11:c.934delG:p.E312fs BRCA1:NM_007294:exon12:c.4243delG:p.E1415fs BRCA1:NM_007299:exon12:c.934delG:p.E312fs BRCA1:NM_007300:exon12:c.4243delG:p.E1415fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
461 | 17 | 41234556 | rs80356989(chr17-41234556-GtoA) | G | A | BRCA1 | BRCA1:NM_007297:exon11:c.C4081T:p.Q1361X BRCA1:NM_007298:exon11:c.C913T:p.Q305X BRCA1:NM_007294:exon12:c.C4222T:p.Q1408X BRCA1:NM_007299:exon12:c.C913T:p.Q305X BRCA1:NM_007300:exon12:c.C4222T:p.Q1408X | stopgain | SO:0001587|nonsense | 55145 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
462 | 17 | 41242962 | rs80357742(chr17-41242962--toGA) | '- | GA | BRCA1 | BRCA1:NM_007297:exon10:c.4042_4043insTC:p.Q1348fs BRCA1:NM_007298:exon10:c.874_875insTC:p.Q292fs BRCA1:NM_007294:exon11:c.4183_4184insTC:p.Q1395fs BRCA1:NM_007299:exon11:c.874_875insTC:p.Q292fs BRCA1:NM_007300:exon11:c.4183_4184insTC:p.Q1395fs | frameshift insertion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
463 | 17 | 41243480 | rs80357508(chr17-41243480-TTGAto-) | TTGA | '- | BRCA1 | BRCA1:NM_007297:exon9:c.3924_3927del:p.N1308fs BRCA1:NM_007294:exon10:c.4065_4068del:p.N1355fs BRCA1:NM_007300:exon10:c.4065_4068del:p.N1355fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_specified Breast_and/or_ovarian_cancer not_provided |
464 | 17 | 41243513 | rs80357711(chr17-41243513-Tto-) | T | '- | BRCA1 | BRCA1:NM_007297:exon9:c.3894delA:p.E1298fs BRCA1:NM_007294:exon10:c.4035delA:p.E1345fs BRCA1:NM_007300:exon10:c.4035delA:p.E1345fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
465 | 17 | 41243581 | rs80357262(chr17-41243581-GtoA) | G | A | BRCA1 | BRCA1:NM_007297:exon9:c.C3826T:p.Q1276X BRCA1:NM_007294:exon10:c.C3967T:p.Q1323X BRCA1:NM_007300:exon10:c.C3967T:p.Q1323X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 55062 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 |
466 | 17 | 41243800 | rs28897686(chr17-41243800-CtoA) | C | A | BRCA1 | BRCA1:NM_007297:exon9:c.G3607T:p.E1203X BRCA1:NM_007294:exon10:c.G3748T:p.E1250X BRCA1:NM_007300:exon10:c.G3748T:p.E1250X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 17672 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_specified not_provided |
467 | 17 | 41243836 | rs777371832(chr17-41243836--toTA) | '- | TA | BRCA1 | BRCA1:NM_007297:exon9:c.3570_3571insTA:p.P1191fs BRCA1:NM_007294:exon10:c.3711_3712insTA:p.P1238fs BRCA1:NM_007300:exon10:c.3711_3712insTA:p.P1238fs | frameshift insertion | '- | '- | 0 | Breast-ovarian_cancer,_familial_1 |
468 | 17 | 41243849 | rs368690455(chr17-41243849-TtoC) | T | C | BRCA1 | BRCA1:NM_007297:exon9:c.A3558G:p.K1186K BRCA1:NM_007294:exon10:c.A3699G:p.K1233K BRCA1:NM_007300:exon10:c.A3699G:p.K1233K | synonymous SNV | SO:0001627|intron_variant SO:0001819|synonymous_variant | 183855 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_specified |
469 | 17 | 41244016 | rs761143251(chr17-41244016--toA) | '- | A | BRCA1 | BRCA1:NM_007297:exon9:c.3390dupT:p.S1131_K1132delinsX BRCA1:NM_007294:exon10:c.3531dupT:p.S1178_K1179delinsX BRCA1:NM_007300:exon10:c.3531dupT:p.S1178_K1179delinsX | stopgain | '- | '- | 0 | Breast-ovarian_cancer,_familial_1 |
470 | 17 | 41244145 | rs80357136(chr17-41244145-GtoA) | G | A | BRCA1 | BRCA1:NM_007297:exon9:c.C3262T:p.Q1088X BRCA1:NM_007294:exon10:c.C3403T:p.Q1135X BRCA1:NM_007300:exon10:c.C3403T:p.Q1135X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 54868 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
471 | 17 | 41244191 | rs772383323(chr17-41244191-AtoG) | A | G | BRCA1 | BRCA1:NM_007297:exon9:c.T3216C:p.T1072T BRCA1:NM_007294:exon10:c.T3357C:p.T1119T BRCA1:NM_007300:exon10:c.T3357C:p.T1119T | synonymous SNV | SO:0001627|intron_variant SO:0001819|synonymous_variant | 479196 | 0 | Hereditary_cancer-predisposing_syndrome |
472 | 17 | 41244778 | rs80357661(chr17-41244778-TAACto-) | TAAC | '- | BRCA1 | BRCA1:NM_007297:exon9:c.2626_2629del:p.V876fs BRCA1:NM_007294:exon10:c.2767_2770del:p.V923fs BRCA1:NM_007300:exon10:c.2767_2770del:p.V923fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
473 | 17 | 41244840 | rs80357717(chr17-41244840--toAT) | '- | AT | BRCA1 | BRCA1:NM_007297:exon9:c.2566_2567insAT:p.C856fs BRCA1:NM_007294:exon10:c.2707_2708insAT:p.C903fs BRCA1:NM_007300:exon10:c.2707_2708insAT:p.C903fs | frameshift insertion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
474 | 17 | 41245073 | rs80357970(chr17-41245073-Gto-) | G | '- | BRCA1 | BRCA1:NM_007297:exon9:c.2334delC:p.D778fs BRCA1:NM_007294:exon10:c.2475delC:p.D825fs BRCA1:NM_007300:exon10:c.2475delC:p.D825fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
475 | 17 | 41245091 | rs80357669(chr17-41245091-Gto-) | G | '- | BRCA1 | BRCA1:NM_007297:exon9:c.2316delC:p.S772fs BRCA1:NM_007294:exon10:c.2457delC:p.S819fs BRCA1:NM_007300:exon10:c.2457delC:p.S819fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_S not_provided |
476 | 17 | 41245159 | rs62625306(chr17-41245159-CtoA) | C | A | BRCA1 | BRCA1:NM_007297:exon9:c.G2248T:p.E750X BRCA1:NM_007294:exon10:c.G2389T:p.E797X BRCA1:NM_007300:exon10:c.G2389T:p.E797X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 17682 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
477 | 17 | 41245332 | rs80357930(chr17-41245332--toAG) | '- | AG | BRCA1 | BRCA1:NM_007297:exon9:c.2074_2075insCT:p.K692fs BRCA1:NM_007294:exon10:c.2215_2216insCT:p.K739fs BRCA1:NM_007300:exon10:c.2215_2216insCT:p.K739fs | frameshift insertion | '- | '- | 0 | Breast-ovarian_cancer,_familial_1 |
478 | 17 | 41245410 | rs80357233(chr17-41245410-GtoC) | G | C | BRCA1 | BRCA1:NM_007297:exon9:c.C1997G:p.S666X BRCA1:NM_007294:exon10:c.C2138G:p.S713X BRCA1:NM_007300:exon10:c.C2138G:p.S713X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 37451 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
479 | 17 | 41245587 | rs80357522(chr17-41245587-Tto-) | T | '- | BRCA1 | BRCA1:NM_007297:exon9:c.1820delA:p.K607fs BRCA1:NM_007294:exon10:c.1961delA:p.K654fs BRCA1:NM_007300:exon10:c.1961delA:p.K654fs | frameshift deletion | '- | '- | 0 | Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Infiltrating_duct_carcinoma_of_breast Breast-ovarian_cancer,_familial_1 not_provided |
480 | 17 | 41245664 | rs80357567(chr17-41245664-ACTGto-) | ACTG | '- | BRCA1 | BRCA1:NM_007297:exon9:c.1740_1743del:p.V580fs BRCA1:NM_007294:exon10:c.1881_1884del:p.V627fs BRCA1:NM_007300:exon10:c.1881_1884del:p.V627fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
481 | 17 | 41245861 | rs80356898(chr17-41245861-GtoA) | G | A | BRCA1 | BRCA1:NM_007297:exon9:c.C1546T:p.Q516X BRCA1:NM_007294:exon10:c.C1687T:p.Q563X BRCA1:NM_007300:exon10:c.C1687T:p.Q563X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 37426 | 0 | Neoplasm_of_ovary Breast_carcinoma Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Ovarian_cancer Breast-ovarian_cancer,_familial_1 not_provided |
482 | 17 | 41245924 | rs397508891(chr17-41245924--toC) | '- | C | BRCA1 | BRCA1:NM_007297:exon9:c.1482dupG:p.N495fs BRCA1:NM_007294:exon10:c.1623dupG:p.N542fs BRCA1:NM_007300:exon10:c.1623dupG:p.N542fs | frameshift insertion | '- | '- | 0 | Breast-ovarian_cancer,_familial_1 |
483 | 17 | 41246039 | rs397508873(chr17-41246039--toTTTAATTTAT) | '- | TTTAATTTAT | BRCA1 | BRCA1:NM_007297:exon9:c.1367_1368insATAAATTAAA:p.K456_R457delinsKX BRCA1:NM_007294:exon10:c.1508_1509insATAAATTAAA:p.K503_R504delinsKX BRCA1:NM_007300:exon10:c.1508_1509insATAAATTAAA:p.K503_R504delinsKX | stopgain | '- | '- | 0 | Familial_cancer_of_breast Breast-ovarian_cancer,_familial_1 |
484 | 17 | 41246433 | rs397508838(chr17-41246433-CtoT) | C | T | BRCA1 | BRCA1:NM_007297:exon9:c.G974A:p.W325X BRCA1:NM_007294:exon10:c.G1115A:p.W372X BRCA1:NM_007300:exon10:c.G1115A:p.W372X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 54134 | 0 | Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 |
485 | 17 | 41246494 | rs80357472(chr17-41246494-CtoA) | C | A | BRCA1 | BRCA1:NM_007297:exon9:c.G913T:p.E305X BRCA1:NM_007294:exon10:c.G1054T:p.E352X BRCA1:NM_007300:exon10:c.G1054T:p.E352X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 54108 | 0 | Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
486 | 17 | 41246652 | rs80357670(chr17-41246652-ACto-) | AC | '- | BRCA1 | BRCA1:NM_007297:exon9:c.754_755del:p.V252fs BRCA1:NM_007294:exon10:c.895_896del:p.V299fs BRCA1:NM_007300:exon10:c.895_896del:p.V299fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 Breast_and/or_ovarian_cancer not_provided |
487 | 17 | 41247941 | rs80358033(chr17-41247941-TtoG) | T | G | BRCA1 | . | . | SO:0001574|splice_acceptor_variant | 37686 | 0 | . |
488 | 17 | 41251825 | rs80357872(chr17-41251825-Gto-) | G | '- | BRCA1 | BRCA1:NM_007297:exon6:c.373delC:p.Q125fs BRCA1:NM_007298:exon6:c.514delC:p.Q172fs BRCA1:NM_007294:exon7:c.514delC:p.Q172fs BRCA1:NM_007299:exon7:c.514delC:p.Q172fs BRCA1:NM_007300:exon7:c.514delC:p.Q172fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 Breast_and/or_ovarian_cancer not_provided |
489 | 17 | 41256250 | rs80357604(chr17-41256250--toT) | '- | T | BRCA1 | BRCA1:NM_007297:exon5:c.188dupA:p.K63fs BRCA1:NM_007298:exon5:c.329dupA:p.K110fs BRCA1:NM_007294:exon6:c.329dupA:p.K110fs BRCA1:NM_007299:exon6:c.329dupA:p.K110fs BRCA1:NM_007300:exon6:c.329dupA:p.K110fs | frameshift insertion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
490 | 17 | 41256884 | rs587782173(chr17-41256884-CtoA) | C | A | BRCA1 | . | . | SO:0001575|splice_donor_variant | 246510 | 0 | Hereditary_cancer-predisposing_syndrome not_provided |
491 | 17 | 41258474 | rs80357382(chr17-41258474-TtoC) | T | C | BRCA1 | BRCA1:NM_007297:exon3:c.A70G:p.R24G BRCA1:NM_007298:exon3:c.A211G:p.R71G BRCA1:NM_007294:exon4:c.A211G:p.R71G BRCA1:NM_007299:exon4:c.A211G:p.R71G BRCA1:NM_007300:exon4:c.A211G:p.R71G | nonsynonymous SNV | SO:0001583|missense_variant SO:0001627|intron_variant | 17693 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_specified not_provided |
492 | 17 | 41258504 | rs28897672(chr17-41258504-AtoC) | A | C | BRCA1 | BRCA1:NM_007297:exon3:c.T40G:p.C14G BRCA1:NM_007298:exon3:c.T181G:p.C61G BRCA1:NM_007294:exon4:c.T181G:p.C61G BRCA1:NM_007299:exon4:c.T181G:p.C61G BRCA1:NM_007300:exon4:c.T181G:p.C61G | nonsynonymous SNV | SO:0001583|missense_variant | 17661 | 0 | Breast_carcinoma Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_specified not_provided |
493 | 17 | 41258551 | rs80358158(chr17-41258551-CtoA) | C | A | BRCA1 | . | . | SO:0001574|splice_acceptor_variant | 37404 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 not_provided |
494 | 17 | 41276045 | rs386833395(chr17-41276045-CTto-) | CT | '- | BRCA1 | BRCA1:NM_007298:exon1:c.68_69del:p.E23fs BRCA1:NM_007294:exon2:c.68_69del:p.E23fs BRCA1:NM_007299:exon2:c.68_69del:p.E23fs BRCA1:NM_007300:exon2:c.68_69del:p.E23fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast-ovarian_cancer,_familial_1 Pancreatic_cancer_4 Breast_and/or_ovarian_cancer not_provided |
495 | 17 | 56770101 | rs587782528(chr17-56770101-CtoT) | C | T | RAD51C | RAD51C:NM_002876:exon1:c.C97T:p.Q33X RAD51C:NM_058216:exon1:c.C97T:p.Q33X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 142534 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_O Breast-ovarian_cancer,_familial_3 not_provided |
496 | 17 | 56772325 | rs786203945(chr17-56772325-CTto-) | CT | '- | RAD51C | RAD51C:NM_002876:exon2:c.179_180del:p.T60fs RAD51C:NM_058216:exon2:c.179_180del:p.T60fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_O not_provided |
497 | 17 | 56772369 | rs730881939(chr17-56772369--toA) | '- | A | RAD51C | RAD51C:NM_002876:exon2:c.224dupA:p.Y75_A76delinsX RAD51C:NM_058216:exon2:c.224dupA:p.Y75_A76delinsX | stopgain | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_O Breast-ovarian_cancer,_familial_3 not_provided |
498 | 17 | 56772543 | rs387907159(chr17-56772543-CtoT) | C | T | RAD51C | RAD51C:NM_002876:exon2:c.C397T:p.Q133X RAD51C:NM_058216:exon2:c.C397T:p.Q133X | stopgain | SO:0001587|nonsense | 31556 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_O Breast-ovarian_cancer,_familial_3 not_provided |
499 | 17 | 56774172 | rs1060502582(chr17-56774172--toC) | '- | C | RAD51C | RAD51C:NM_058216:exon3:c.524dupC:p.A175fs | frameshift insertion | '- | '- | 0 | Fanconi_anemia,_complementation_group_O |
500 | 17 | 56780562 | .(chr17-56780562-CtoA) | C | A | RAD51C | RAD51C:NM_058216:exon4:c.C577A:p.R193R | synonymous SNV | '- | '- | 0 | . |
501 | 17 | 56783901 | rs907120156(chr17-56783901--toT) | '- | T | RAD51C | . | . | '- | '- | 0 | . |
502 | 17 | 56787223 | rs770637624(chr17-56787223-CtoT) | C | T | RAD51C | RAD51C:NM_058216:exon5:c.C709T:p.R237X | stopgain | SO:0001587|nonsense | 186364 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_O Breast-ovarian_cancer,_familial_3 not_provided |
503 | 17 | 56801399 | rs587781995(chr17-56801399-AGto-) | AG | '- | RAD51C | . | . | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_O Breast-ovarian_cancer,_familial_3 not_provided |
504 | 17 | 59760676 | rs730881646(chr17-59760676-ATto-) | AT | '- | BRIP1 | BRIP1:NM_032043:exon20:c.3730_3731del:p.M1244fs | frameshift deletion | '- | '- | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J not_specified |
505 | 17 | 59760742 | rs752586524(chr17-59760742--toC) | '- | C | BRIP1 | BRIP1:NM_032043:exon20:c.3664dupG:p.E1222fs | frameshift insertion | '- | '- | 0 | Neoplasm_of_the_breast Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J |
506 | 17 | 59760756 | rs542698396(chr17-59760756-CtoA) | C | A | BRIP1 | BRIP1:NM_032043:exon20:c.G3651T:p.W1217C | nonsynonymous SNV | SO:0001583|missense_variant | 141402 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J not_specified not_provided |
507 | 17 | 59760881 | rs777367075(chr17-59760881--toA) | '- | A | BRIP1 | BRIP1:NM_032043:exon20:c.3525dupT:p.I1176fs | frameshift insertion | '- | '- | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J not_specified |
508 | 17 | 59761199 | rs748598593(chr17-59761199-Ato-) | A | '- | BRIP1 | BRIP1:NM_032043:exon20:c.3208delT:p.S1070fs | frameshift deletion | '- | '- | 0 | Familial_cancer_of_breast Fanconi_anemia,_complementation_group_J |
509 | 17 | 59761211 | rs730881645(chr17-59761211-Ato-) | A | '- | BRIP1 | BRIP1:NM_032043:exon20:c.3196delT:p.S1066fs | frameshift deletion | '- | '- | 0 | Neoplasm_of_ovary Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J not_specified not_provided |
510 | 17 | 59761502 | rs773639563(chr17-59761502-CtoT) | C | T | BRIP1 | . | . | '- | '- | 0 | . |
511 | 17 | 59793404 | rs574552037(chr17-59793404-GtoC) | G | C | BRIP1 | BRIP1:NM_032043:exon17:c.C2400G:p.Y800X | stopgain | SO:0001587|nonsense | 142343 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J not_provided |
512 | 17 | 59793412 | rs137852986(chr17-59793412-GtoA) | G | A | BRIP1 | BRIP1:NM_032043:exon17:c.C2392T:p.R798X | stopgain | SO:0001587|nonsense | 4738 | 0 | Neoplasm_of_ovary Tracheoesophageal_fistula Neoplasm_of_the_breast Familial_cancer_of_breast Fanconi_anemia Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J Breast_cancer,_early-onset not_provided |
513 | 17 | 59820479 | rs587780236(chr17-59820479--toA) | '- | A | BRIP1 | BRIP1:NM_032043:exon16:c.2273dupT:p.V758fs | frameshift insertion | '- | '- | 0 | Neoplasm_of_ovary Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J not_provided |
514 | 17 | 59821794 | rs730881649(chr17-59821794-TTto-) | TT | '- | BRIP1 | BRIP1:NM_032043:exon15:c.2255_2256del:p.K752fs | frameshift deletion | '- | '- | 0 | Neoplasm_of_ovary Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J not_provided |
515 | 17 | 59821941 | rs760863397(chr17-59821941--toGG) | '- | GG | BRIP1 | BRIP1:NM_032043:exon15:c.2108_2109insCC:p.K703fs | frameshift insertion | '- | '- | 0 | . |
516 | 17 | 59857621 | rs761015335(chr17-59857621-CtoT) | C | T | BRIP1 | . | . | '- | '- | 0 | . |
517 | 17 | 59857686 | rs587781321(chr17-59857686-GtoT) | G | T | BRIP1 | BRIP1:NM_032043:exon13:c.C1871A:p.S624X | stopgain | SO:0001587|nonsense | 140852 | 0 | Neoplasm_of_ovary Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J not_provided |
518 | 17 | 59858254 | rs780020495(chr17-59858254-GtoA) | G | A | BRIP1 | BRIP1:NM_032043:exon12:c.C1741T:p.R581X | stopgain | SO:0001587|nonsense | 434539 | 0 | Hereditary_cancer-predisposing_syndrome Breast_cancer,_early-onset not_provided |
519 | 17 | 59861685 | rs772248310(chr17-59861685-Ato-) | A | '- | BRIP1 | BRIP1:NM_032043:exon11:c.1574delT:p.I525fs | frameshift deletion | '- | '- | 0 | . |
520 | 17 | 59871048 | rs587780875(chr17-59871048-AtoG) | A | G | BRIP1 | BRIP1:NM_032043:exon10:c.T1383C:p.Y461Y | synonymous SNV | SO:0001819|synonymous_variant | 136584 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J not_specified |
521 | 17 | 59934505 | rs763009188(chr17-59934505-TTGTto-) | TTGT | '- | BRIP1 | BRIP1:NM_032043:exon4:c.290_293del:p.N97fs | frameshift deletion | '- | '- | 0 | Neoplasm_of_ovary Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J not_provided |
522 | 17 | 59934523 | .(chr17-59934523-GtoC) | G | C | BRIP1 | BRIP1:NM_032043:exon4:c.C275G:p.S92X | stopgain | '- | '- | 0 | . |
523 | 17 | 59937229 | rs587781292(chr17-59937229-CtoA) | C | A | BRIP1 | BRIP1:NM_032043:exon3:c.G133T:p.E45X | stopgain | SO:0001587|nonsense | 140808 | 0 | Neoplasm_of_ovary Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J not_provided |
524 | 17 | 59938807 | rs587782047(chr17-59938807-CtoA) | C | A | BRIP1 | . | . | SO:0001575|splice_donor_variant | 141838 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_J not_provided |
525 | 17 | 63533955 | rs775783026(chr17-63533955-TtoC) | T | C | AXIN2 | . | . | SO:0001574|splice_acceptor_variant | 464525 | 0 | Oligodontia-colorectal_cancer_syndrome |
526 | 17 | 66519056 | rs770467532(chr17-66519056-TAto-) | TA | '- | PRKAR1A | PRKAR1A:NM_001276290:exon2:c.337_338del:p.Y113fs PRKAR1A:NM_001278433:exon3:c.337_338del:p.Y113fs PRKAR1A:NM_002734:exon3:c.337_338del:p.Y113fs PRKAR1A:NM_212471:exon3:c.337_338del:p.Y113fs PRKAR1A:NM_212472:exon3:c.337_338del:p.Y113fs PRKAR1A:NM_001276289:exon4:c.337_338del:p.Y113fs | frameshift deletion | '- | '- | 0 | . |
527 | 17 | 66526169 | rs368070399(chr17-66526169--toA) | '- | A | PRKAR1A | . | . | '- | '- | 0 | . |
528 | 17 | 74469925 | rs777871789(chr17-74469925-CtoT) | C | T | RHBDF2 | RHBDF2:NM_001005498:exon13:c.G1634A:p.W545X RHBDF2:NM_024599:exon14:c.G1721A:p.W574X | stopgain | '- | '- | 0 | . |
529 | 17 | 74473371 | rs749809338(chr17-74473371-TtoA) | T | A | RHBDF2 | RHBDF2:NM_001005498:exon7:c.A811T:p.S271C RHBDF2:NM_024599:exon8:c.A898T:p.S300C | nonsynonymous SNV | '- | '- | 0 | . |
530 | 17 | 74475316 | rs755437484(chr17-74475316-GtoA) | G | A | RHBDF2 | RHBDF2:NM_001005498:exon4:c.C316T:p.Q106X RHBDF2:NM_024599:exon5:c.C403T:p.Q135X | stopgain | '- | '- | 0 | . |
531 | 17 | 7572980 | rs770970987(chr17-7572980-Tto-) | T | '- | TP53 | TP53:NM_001126115:exon7:c.733delA:p.T245fs TP53:NM_001276697:exon7:c.652delA:p.T218fs TP53:NM_001126118:exon10:c.1012delA:p.T338fs TP53:NM_000546:exon11:c.1129delA:p.T377fs TP53:NM_001126112:exon11:c.1129delA:p.T377fs TP53:NM_001276760:exon11:c.1012delA:p.T338fs TP53:NM_001276761:exon11:c.1012delA:p.T338fs | frameshift deletion | '- | '- | 0 | . |
532 | 17 | 7573934 | rs267605075(chr17-7573934-GtoA) | G | A | TP53 | TP53:NM_001126115:exon6:c.C697T:p.H233Y TP53:NM_001276697:exon6:c.C616T:p.H206Y TP53:NM_001126118:exon9:c.C976T:p.H326Y TP53:NM_000546:exon10:c.C1093T:p.H365Y TP53:NM_001126112:exon10:c.C1093T:p.H365Y TP53:NM_001276760:exon10:c.C976T:p.H326Y TP53:NM_001276761:exon10:c.C976T:p.H326Y | nonsynonymous SNV | SO:0001583|missense_variant SO:0001624|3_prime_UTR_variant | 80708 | 0 | Hereditary_cancer-predisposing_syndrome Li-Fraumeni_syndrome |
533 | 17 | 7577509 | rs121912652(chr17-7577509-CtoT) | C | T | TP53 | TP53:NM_001126115:exon3:c.G376A:p.E126K TP53:NM_001126116:exon3:c.G376A:p.E126K TP53:NM_001126117:exon3:c.G376A:p.E126K TP53:NM_001276697:exon3:c.G295A:p.E99K TP53:NM_001276698:exon3:c.G295A:p.E99K TP53:NM_001276699:exon3:c.G295A:p.E99K TP53:NM_001126118:exon6:c.G655A:p.E219K TP53:NM_000546:exon7:c.G772A:p.E258K TP53:NM_001126112:exon7:c.G772A:p.E258K TP53:NM_001126113:exon7:c.G772A:p.E258K TP53:NM_001126114:exon7:c.G772A:p.E258K TP53:NM_001276695:exon7:c.G655A:p.E219K TP53:NM_001276696:exon7:c.G655A:p.E219K TP53:NM_001276760:exon7:c.G655A:p.E219K TP53:NM_001276761:exon7:c.G655A:p.E219K | nonsynonymous SNV | SO:0001583|missense_variant | 12348 | 0 | Li-Fraumeni_syndrome_1 not_specified not_provided |
534 | 17 | 7577539 | rs121912651(chr17-7577539-GtoA) | G | A | TP53 | TP53:NM_001126115:exon3:c.C346T:p.R116W TP53:NM_001126116:exon3:c.C346T:p.R116W TP53:NM_001126117:exon3:c.C346T:p.R116W TP53:NM_001276697:exon3:c.C265T:p.R89W TP53:NM_001276698:exon3:c.C265T:p.R89W TP53:NM_001276699:exon3:c.C265T:p.R89W TP53:NM_001126118:exon6:c.C625T:p.R209W TP53:NM_000546:exon7:c.C742T:p.R248W TP53:NM_001126112:exon7:c.C742T:p.R248W TP53:NM_001126113:exon7:c.C742T:p.R248W TP53:NM_001126114:exon7:c.C742T:p.R248W TP53:NM_001276695:exon7:c.C625T:p.R209W TP53:NM_001276696:exon7:c.C625T:p.R209W TP53:NM_001276760:exon7:c.C625T:p.R209W TP53:NM_001276761:exon7:c.C625T:p.R209W | nonsynonymous SNV | SO:0001583|missense_variant | 12347 | 0 | Li-Fraumeni_syndrome_1 Abnormality_of_the_tongue Webbed_neck Pectus_excavatum Hepatocellular_carcinoma Pancytopenia Neoplasm Medulloblastoma Short_stature Acute_myeloid_leukemia Chronic_lymphocytic_leukemia Pancreatic_adenocarcinoma Squamous_cell_carcinoma_of_the_skin Transitional_cell_carcinoma_of_the_bladder Multiple_myeloma Brainstem_glioma Carcinoma_of_esophagus Lung_adenocarcinoma Small_cell_lung_cancer Squamous_cell_lung_carcinoma Neoplasm_of_brain Neoplasm_of_the_breast Cognitive_impairment Neoplasm_of_the_large_intestine Squamous_cell_carcinoma_of_the_head_and_neck Malignant_melanoma_of_skin Glioblastoma Myelodysplastic_syndrome Adenocarcinoma_of_prostate Hereditary_cancer-predisposing_syndrome Li-Fraumeni_syndrome Malignant_neoplasm_of_body_of_uterus Adenocarcinoma_of_stomach Ovarian_Serous_Cystadenocarcinoma Uterine_Carcinosarcoma not_provided |
535 | 17 | 7577547 | rs121912656(chr17-7577547-CtoA) | C | A | TP53 | TP53:NM_001126115:exon3:c.G338T:p.G113V TP53:NM_001126116:exon3:c.G338T:p.G113V TP53:NM_001126117:exon3:c.G338T:p.G113V TP53:NM_001276697:exon3:c.G257T:p.G86V TP53:NM_001276698:exon3:c.G257T:p.G86V TP53:NM_001276699:exon3:c.G257T:p.G86V TP53:NM_001126118:exon6:c.G617T:p.G206V TP53:NM_000546:exon7:c.G734T:p.G245V TP53:NM_001126112:exon7:c.G734T:p.G245V TP53:NM_001126113:exon7:c.G734T:p.G245V TP53:NM_001126114:exon7:c.G734T:p.G245V TP53:NM_001276695:exon7:c.G617T:p.G206V TP53:NM_001276696:exon7:c.G617T:p.G206V TP53:NM_001276760:exon7:c.G617T:p.G206V TP53:NM_001276761:exon7:c.G617T:p.G206V | nonsynonymous SNV | SO:0001583|missense_variant | 376603 | 0 | Hepatocellular_carcinoma Pancreatic_adenocarcinoma Transitional_cell_carcinoma_of_the_bladder Brainstem_glioma Carcinoma_of_esophagus Lung_adenocarcinoma Squamous_cell_lung_carcinoma Neoplasm_of_brain Neoplasm_of_the_breast Neoplasm_of_the_large_intestine Squamous_cell_carcinoma_of_the_head_and_neck Glioblastoma Adenocarcinoma_of_prostate Li-Fraumeni_syndrome Adenocarcinoma_of_stomach Ovarian_Serous_Cystadenocarcinoma Uterine_Carcinosarcoma |
536 | 17 | 7578257 | .(chr17-7578257-CtoA) | C | A | TP53 | TP53:NM_001126115:exon2:c.G196T:p.E66X TP53:NM_001126116:exon2:c.G196T:p.E66X TP53:NM_001126117:exon2:c.G196T:p.E66X TP53:NM_001276697:exon2:c.G115T:p.E39X TP53:NM_001276698:exon2:c.G115T:p.E39X TP53:NM_001276699:exon2:c.G115T:p.E39X TP53:NM_001126118:exon5:c.G475T:p.E159X TP53:NM_000546:exon6:c.G592T:p.E198X TP53:NM_001126112:exon6:c.G592T:p.E198X TP53:NM_001126113:exon6:c.G592T:p.E198X TP53:NM_001126114:exon6:c.G592T:p.E198X TP53:NM_001276695:exon6:c.G475T:p.E159X TP53:NM_001276696:exon6:c.G475T:p.E159X TP53:NM_001276760:exon6:c.G475T:p.E159X TP53:NM_001276761:exon6:c.G475T:p.E159X | stopgain | '- | '- | 0 | . |
537 | 17 | 7578265 | rs760043106(chr17-7578265-AtoG) | A | G | TP53 | TP53:NM_001126115:exon2:c.T188C:p.I63T TP53:NM_001126116:exon2:c.T188C:p.I63T TP53:NM_001126117:exon2:c.T188C:p.I63T TP53:NM_001276697:exon2:c.T107C:p.I36T TP53:NM_001276698:exon2:c.T107C:p.I36T TP53:NM_001276699:exon2:c.T107C:p.I36T TP53:NM_001126118:exon5:c.T467C:p.I156T TP53:NM_000546:exon6:c.T584C:p.I195T TP53:NM_001126112:exon6:c.T584C:p.I195T TP53:NM_001126113:exon6:c.T584C:p.I195T TP53:NM_001126114:exon6:c.T584C:p.I195T TP53:NM_001276695:exon6:c.T467C:p.I156T TP53:NM_001276696:exon6:c.T467C:p.I156T TP53:NM_001276760:exon6:c.T467C:p.I156T TP53:NM_001276761:exon6:c.T467C:p.I156T | nonsynonymous SNV | SO:0001583|missense_variant | 216077 | 0 | Hepatocellular_carcinoma Acute_myeloid_leukemia Chronic_lymphocytic_leukemia Pancreatic_adenocarcinoma Multiple_myeloma Carcinoma_of_esophagus Lung_adenocarcinoma Squamous_cell_lung_carcinoma Neoplasm_of_brain Neoplasm_of_the_breast Neoplasm_of_the_large_intestine Squamous_cell_carcinoma_of_the_head_and_neck Glioblastoma Li-Fraumeni_syndrome Adenocarcinoma_of_stomach Ovarian_Serous_Cystadenocarcinoma Uterine_Carcinosarcoma not_provided |
538 | 17 | 7578457 | .(chr17-7578457-CtoA) | C | A | TP53 | TP53:NM_001126115:exon1:c.G77T:p.R26L TP53:NM_001126116:exon1:c.G77T:p.R26L TP53:NM_001126117:exon1:c.G77T:p.R26L TP53:NM_001126118:exon4:c.G356T:p.R119L TP53:NM_000546:exon5:c.G473T:p.R158L TP53:NM_001126112:exon5:c.G473T:p.R158L TP53:NM_001126113:exon5:c.G473T:p.R158L TP53:NM_001126114:exon5:c.G473T:p.R158L TP53:NM_001276695:exon5:c.G356T:p.R119L TP53:NM_001276696:exon5:c.G356T:p.R119L TP53:NM_001276760:exon5:c.G356T:p.R119L TP53:NM_001276761:exon5:c.G356T:p.R119L | nonsynonymous SNV | SO:0001583|missense_variant | 528248 | 0 | Li-Fraumeni_syndrome |
539 | 17 | 7578475 | rs587782705(chr17-7578475-GtoA) | G | A | TP53 | TP53:NM_001126115:exon1:c.C59T:p.P20L TP53:NM_001126116:exon1:c.C59T:p.P20L TP53:NM_001126117:exon1:c.C59T:p.P20L TP53:NM_001126118:exon4:c.C338T:p.P113L TP53:NM_000546:exon5:c.C455T:p.P152L TP53:NM_001126112:exon5:c.C455T:p.P152L TP53:NM_001126113:exon5:c.C455T:p.P152L TP53:NM_001126114:exon5:c.C455T:p.P152L TP53:NM_001276695:exon5:c.C338T:p.P113L TP53:NM_001276696:exon5:c.C338T:p.P113L TP53:NM_001276760:exon5:c.C338T:p.P113L TP53:NM_001276761:exon5:c.C338T:p.P113L | nonsynonymous SNV | SO:0001583|missense_variant SO:0001623|5_prime_UTR_variant | 142766 | 0 | Li-Fraumeni_syndrome_1 Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Li-Fraumeni_syndrome not_provided |
540 | 17 | 7578555 | rs751253294(chr17-7578555--toT) | '- | T | TP53 | . | . | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Li-Fraumeni_syndrome not_specified |
541 | 17 | 7579358 | rs11540654(chr17-7579358-CtoA) | C | A | TP53 | TP53:NM_001126118:exon3:c.G212T:p.R71L TP53:NM_000546:exon4:c.G329T:p.R110L TP53:NM_001126112:exon4:c.G329T:p.R110L TP53:NM_001126113:exon4:c.G329T:p.R110L TP53:NM_001126114:exon4:c.G329T:p.R110L TP53:NM_001276695:exon4:c.G212T:p.R71L TP53:NM_001276696:exon4:c.G212T:p.R71L TP53:NM_001276760:exon4:c.G212T:p.R71L TP53:NM_001276761:exon4:c.G212T:p.R71L | nonsynonymous SNV | SO:0001583|missense_variant SO:0001636|2KB_upstream_variant | 406597 | 0 | Hereditary_cancer-predisposing_syndrome Li-Fraumeni_syndrome |
542 | 18 | 42449194 | rs147805077(chr18-42449194-GtoA) | G | A | SETBP1 | . | . | SO:0001574|splice_acceptor_variant | 429524 | 0 | not_provided |
543 | 18 | 42456634 | rs767687415(chr18-42456634-CtoA) | C | A | SETBP1 | SETBP1:NM_001130110:exon4:c.C645A:p.C215X | stopgain | '- | '- | 0 | . |
544 | 18 | 48603032 | rs377767360(chr18-48603032-CtoT) | C | T | SMAD4 | SMAD4:NM_005359:exon11:c.C1333T:p.R445X | stopgain | SO:0001587|nonsense | 24850 | 0 | Hereditary_cancer-predisposing_syndrome Juvenile_polyposis_syndrome Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome not_provided |
545 | 19 | 11098473 | rs760562676(chr19-11098473-CtoT) | C | T | SMARCA4 | SMARCA4:NM_001128845:exon5:c.C991T:p.Q331X SMARCA4:NM_001128846:exon5:c.C991T:p.Q331X SMARCA4:NM_001128847:exon5:c.C991T:p.Q331X SMARCA4:NM_001128848:exon5:c.C991T:p.Q331X SMARCA4:NM_001128849:exon6:c.C991T:p.Q331X SMARCA4:NM_003072:exon6:c.C991T:p.Q331X SMARCA4:NM_001128844:exon7:c.C991T:p.Q331X | stopgain | '- | '- | 0 | . |
546 | 19 | 1226607 | .(chr19-1226607-CtoT) | C | T | STK11 | STK11:NM_000455:exon9:c.C1263T:p.S421S | synonymous SNV | SO:0001819|synonymous_variant | 458031 | 0 | Peutz-Jeghers_syndrome Hereditary_cancer-predisposing_syndrome |
547 | 19 | 50918854 | rs767410345(chr19-50918854-CtoT) | C | T | POLD1 | . | . | SO:0001627|intron_variant | 408082 | 0 | Colorectal_cancer_10 |
548 | 19 | 50921181 | rs1060501849(chr19-50921181-Cto-) | C | '- | POLD1 | POLD1:NM_001308632:exon26:c.3379delC:p.P1127fs POLD1:NM_001256849:exon27:c.3301delC:p.P1101fs POLD1:NM_002691:exon27:c.3301delC:p.P1101fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Colorectal_cancer_10 not_provided |
549 | 2 | 128044348 | rs121913047(chr2-128044348-GtoA) | G | A | ERCC3 | ERCC3:NM_000122:exon8:c.C1273T:p.R425X ERCC3:NM_001303416:exon8:c.C1081T:p.R361X ERCC3:NM_001303418:exon8:c.C1081T:p.R361X | stopgain | SO:0001587|nonsense | 16585 | 0 | Xeroderma_pigmentosum,_complementation_group_b |
550 | 2 | 166611441 | rs745655924(chr2-166611441-CtoT) | C | T | GALNT3 | . | . | SO:0001575|splice_donor_variant | 7791 | 0 | Tumoral_calcinosis,_familial,_hyperphosphatemic |
551 | 2 | 166621568 | rs761396172(chr2-166621568-TtoA) | T | A | GALNT3 | . | . | '- | 7794 | 0 | Tumoral_calcinosis,_familial,_hyperphosphatemic not_provided |
552 | 2 | 215610566 | rs587780021(chr2-215610566-GtoA) | G | A | BARD1 | BARD1:NM_001282548:exon3:c.C280T:p.Q94X BARD1:NM_001282545:exon4:c.C337T:p.Q113X BARD1:NM_001282543:exon7:c.C1633T:p.Q545X BARD1:NM_000465:exon8:c.C1690T:p.Q564X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 127720 | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Triple-Negative_Breast_Cancer_Finding not_provided |
553 | 2 | 215617196 | rs587781707(chr2-215617196-GtoC) | G | C | BARD1 | BARD1:NM_001282548:exon2:c.C242G:p.S81X BARD1:NM_001282545:exon3:c.C299G:p.S100X BARD1:NM_001282543:exon6:c.C1595G:p.S532X BARD1:NM_000465:exon7:c.C1652G:p.S551X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 141384 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Breast_cancer,_susceptibility_to not_provided |
554 | 2 | 215645382 | rs377153250(chr2-215645382-GtoA) | G | A | BARD1 | BARD1:NM_001282543:exon3:c.C1159T:p.R387X BARD1:NM_000465:exon4:c.C1216T:p.R406X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 229677 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
555 | 22 | 24129357 | rs367768260(chr22-24129357-AtoG) | A | G | SMARCB1 | SMARCB1:NM_001007468:exon1:c.A1G:p.M1V SMARCB1:NM_001317946:exon1:c.A1G:p.M1V SMARCB1:NM_003073:exon1:c.A1G:p.M1V | nonsynonymous SNV | SO:0001583|missense_variant | 135257 | 0 | Hereditary_cancer-predisposing_syndrome Rhabdoid_tumor_predisposition_syndrome_1 not_specified |
556 | 22 | 29085179 | rs756250205(chr22-29085179-GtoA) | G | A | CHEK2 | CHEK2:NM_001349956:exon13:c.C1285T:p.Q429X CHEK2:NM_145862:exon13:c.C1399T:p.Q467X CHEK2:NM_007194:exon14:c.C1486T:p.Q496X CHEK2:NM_001005735:exon15:c.C1615T:p.Q539X CHEK2:NM_001257387:exon15:c.C823T:p.Q275X | stopgain | SO:0001587|nonsense | 230455 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
557 | 22 | 29085204 | rs1060502698(chr22-29085204-CtoT) | C | T | CHEK2 | . | . | SO:0001574|splice_acceptor_variant | 410026 | 0 | Familial_cancer_of_breast |
558 | 22 | 29091121 | rs730881700(chr22-29091121--toT) | '- | T | CHEK2 | CHEK2:NM_001349956:exon11:c.1167dupA:p.E390fs CHEK2:NM_145862:exon11:c.1281dupA:p.E428fs CHEK2:NM_007194:exon12:c.1368dupA:p.E457fs CHEK2:NM_001005735:exon13:c.1497dupA:p.E500fs CHEK2:NM_001257387:exon13:c.705dupA:p.E236fs | frameshift insertion | '- | '- | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome CHEK2-Related_Cancer_Susceptibility not_provided |
559 | 22 | 29091207 | rs137853011(chr22-29091207-GtoA) | G | A | CHEK2 | CHEK2:NM_001349956:exon11:c.C1082T:p.S361F CHEK2:NM_145862:exon11:c.C1196T:p.S399F CHEK2:NM_007194:exon12:c.C1283T:p.S428F CHEK2:NM_001005735:exon13:c.C1412T:p.S471F CHEK2:NM_001257387:exon13:c.C620T:p.S207F | nonsynonymous SNV | SO:0001583|missense_variant | 5603 | 0 | Osteosarcoma Malignant_tumor_of_prostate Neoplasm_of_the_breast Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome Colorectal_cancer Li-Fraumeni_syndrome_2 Breast_and_colorectal_cancer,_susceptibility_to Breast_cancer,_susceptibility_to not_provided |
560 | 22 | 29091227 | rs587780174(chr22-29091227-Ato-) | A | '- | CHEK2 | CHEK2:NM_001349956:exon11:c.1062delT:p.L354fs CHEK2:NM_145862:exon11:c.1176delT:p.L392fs CHEK2:NM_007194:exon12:c.1263delT:p.L421fs CHEK2:NM_001005735:exon13:c.1392delT:p.L464fs CHEK2:NM_001257387:exon13:c.600delT:p.L200fs | frameshift deletion | '- | '- | 0 | Hereditary_breast_and_ovarian_cancer_syndrome Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
561 | 22 | 29120979 | rs775167943(chr22-29120979-AGto-) | AG | '- | CHEK2 | CHEK2:NM_007194:exon4:c.577_578del:p.L193fs CHEK2:NM_145862:exon4:c.577_578del:p.L193fs CHEK2:NM_001005735:exon5:c.706_707del:p.L236fs | frameshift deletion | '- | '- | 0 | Familial_cancer_of_breast |
562 | 22 | 29121230 | rs121908698(chr22-29121230-CtoA) | C | A | CHEK2 | . | . | SO:0001575|splice_donor_variant | 126914 | 0 | Familial_cancer_of_breast not_provided |
563 | 22 | 29121266 | rs730881701(chr22-29121266-GtoA) | G | A | CHEK2 | CHEK2:NM_001349956:exon3:c.C409T:p.R137X CHEK2:NM_007194:exon3:c.C409T:p.R137X CHEK2:NM_145862:exon3:c.C409T:p.R137X CHEK2:NM_001005735:exon4:c.C538T:p.R180X | stopgain | SO:0001587|nonsense SO:0001623|5_prime_UTR_variant | 182452 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
564 | 22 | 29130431 | rs587782070(chr22-29130431-CtoT) | C | T | CHEK2 | CHEK2:NM_001005735:exon2:c.G279A:p.W93X CHEK2:NM_001349956:exon2:c.G279A:p.W93X CHEK2:NM_007194:exon2:c.G279A:p.W93X CHEK2:NM_145862:exon2:c.G279A:p.W93X | stopgain | SO:0001587|nonsense SO:0001623|5_prime_UTR_variant | 141866 | 0 | Familial_cancer_of_breast Hereditary_cancer-predisposing_syndrome not_provided |
565 | 22 | 30077555 | rs755032702(chr22-30077555-AGto-) | AG | '- | NF2 | NF2:NM_181830:exon13:c.1453_1454del:p.R485fs NF2:NM_181831:exon13:c.1453_1454del:p.R485fs NF2:NM_181828:exon14:c.1576_1577del:p.R526fs NF2:NM_181829:exon14:c.1579_1580del:p.R527fs NF2:NM_000268:exon15:c.1702_1703del:p.R568fs NF2:NM_016418:exon15:c.1702_1703del:p.R568fs NF2:NM_181825:exon15:c.1702_1703del:p.R568fs NF2:NM_181832:exon15:c.1702_1703del:p.R568fs | frameshift deletion | '- | '- | 0 | . |
566 | 2 | 39213287 | .(chr2-39213287-GtoC) | G | C | SOS1 | SOS1:NM_005633:exon23:c.C3680G:p.S1227X | stopgain | '- | '- | 0 | . |
567 | 2 | 47596646 | .(chr2-47596646-TtoC) | T | C | EPCAM | EPCAM:NM_002354:exon1:c.T2C:p.M1T | nonsynonymous SNV | '- | '- | 0 | . |
568 | 2 | 47602372 | rs373597944(chr2-47602372-GtoC) | G | C | EPCAM | . | . | '- | '- | 0 | . |
569 | 2 | 47612350 | rs751264236(chr2-47612350-GtoA) | G | A | EPCAM | . | . | '- | '- | 0 | . |
570 | 2 | 47630331 | rs267607911(chr2-47630331-AtoC) | A | C | MSH2 | MSH2:NM_000251:exon1:c.A1C:p.M1L | nonsynonymous SNV | SO:0001583|missense_variant SO:0001627|intron_variant | 90832 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome Lynch_syndrome_I not_specified not_provided |
571 | 2 | 47637272 | rs63750408(chr2-47637272-Tto-) | T | '- | MSH2 | MSH2:NM_000251:exon3:c.406delT:p.F136fs MSH2:NM_001258281:exon4:c.208delT:p.F70fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Lynch_syndrome |
572 | 2 | 47637350 | rs63750624(chr2-47637350-GtoA) | G | A | MSH2 | MSH2:NM_000251:exon3:c.G484A:p.G162R MSH2:NM_001258281:exon4:c.G286A:p.G96R | nonsynonymous SNV | SO:0001583|missense_variant | 91105 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome Lynch_syndrome_I |
573 | 2 | 47637374 | rs63750843(chr2-47637374-CtoT) | C | T | MSH2 | MSH2:NM_000251:exon3:c.C508T:p.Q170X MSH2:NM_001258281:exon4:c.C310T:p.Q104X | stopgain | SO:0001587|nonsense | 91117 | 0 | Hereditary_cancer-predisposing_syndrome Lynch_syndrome not_provided |
574 | 2 | 47657024 | rs760228651(chr2-47657024--toC) | '- | C | MSH2 | MSH2:NM_000251:exon7:c.1221dupC:p.L407fs MSH2:NM_001258281:exon8:c.1023dupC:p.L341fs | frameshift insertion | '- | '- | 0 | . |
575 | 2 | 47657082 | rs267607953(chr2-47657082-TtoC) | T | C | MSH2 | . | . | SO:0001575|splice_donor_variant | 218032 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome_I not_provided |
576 | 2 | 47703538 | rs63749932(chr2-47703538-CtoT) | C | T | MSH2 | MSH2:NM_000251:exon13:c.C2038T:p.R680X MSH2:NM_001258281:exon14:c.C1840T:p.R614X | stopgain | SO:0001587|nonsense | 36572 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Malignant_tumor_of_ascending_colon Lynch_syndrome Lynch_syndrome_I not_provided |
577 | 2 | 47707944 | rs768137500(chr2-47707944-TtoA) | T | A | MSH2 | MSH2:NM_000251:exon15:c.T2568A:p.Y856X MSH2:NM_001258281:exon16:c.T2370A:p.Y790X | stopgain | '- | '- | 0 | . |
578 | 2 | 47739550 | .(chr2-47739550-CtoT) | C | T | MSH2;KCNK12 | . | . | '- | '- | 0 | . |
579 | 2 | 48025864 | rs587781691(chr2-48025864-Cto-) | C | '- | MSH6 | MSH6:NM_001281492:exon2:c.352delC:p.R118fs MSH6:NM_000179:exon4:c.742delC:p.R248fs | frameshift deletion | '- | '- | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome not_provided |
580 | 2 | 48025965 | rs752540976(chr2-48025965--toAC) | '- | AC | MSH6 | MSH6:NM_001281492:exon2:c.453_454insAC:p.G151fs MSH6:NM_000179:exon4:c.843_844insAC:p.G281fs | frameshift insertion | '- | '- | 0 | . |
581 | 2 | 48026251 | rs267608077(chr2-48026251-AAGAGto-) | AAGAG | '- | MSH6 | MSH6:NM_001281492:exon2:c.739_743del:p.K247fs MSH6:NM_001281493:exon3:c.223_227del:p.K75fs MSH6:NM_000179:exon4:c.1129_1133del:p.K377fs MSH6:NM_001281494:exon4:c.223_227del:p.K75fs | frameshift deletion | '- | '- | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome Hereditary_nonpolyposis_colorectal_cancer_type_5 not_provided |
582 | 2 | 48026728 | rs863224829(chr2-48026728-AGTAto-) | AGTA | '- | MSH6 | MSH6:NM_001281492:exon2:c.1216_1219del:p.S406fs MSH6:NM_001281493:exon3:c.700_703del:p.S234fs MSH6:NM_000179:exon4:c.1606_1609del:p.S536fs MSH6:NM_001281494:exon4:c.700_703del:p.S234fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Lynch_syndrome not_provided |
583 | 2 | 48026890 | rs786202108(chr2-48026890-Cto-) | C | '- | MSH6 | MSH6:NM_001281492:exon2:c.1378delC:p.P460fs MSH6:NM_001281493:exon3:c.862delC:p.P288fs MSH6:NM_000179:exon4:c.1768delC:p.P590fs MSH6:NM_001281494:exon4:c.862delC:p.P288fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome |
584 | 2 | 48027686 | rs760558287(chr2-48027686-Tto-) | T | '- | MSH6 | MSH6:NM_001281492:exon2:c.2174delT:p.I725fs MSH6:NM_001281493:exon3:c.1658delT:p.I553fs MSH6:NM_000179:exon4:c.2564delT:p.I855fs MSH6:NM_001281494:exon4:c.1658delT:p.I553fs | frameshift deletion | '- | '- | 0 | . |
585 | 2 | 48028135 | rs63750563(chr2-48028135-CtoT) | C | T | MSH6 | MSH6:NM_001281492:exon2:c.C2623T:p.R875X MSH6:NM_001281493:exon3:c.C2107T:p.R703X MSH6:NM_000179:exon4:c.C3013T:p.R1005X MSH6:NM_001281494:exon4:c.C2107T:p.R703X | stopgain | SO:0001587|nonsense | 89330 | 0 | Hereditary_cancer-predisposing_syndrome Lynch_syndrome Hereditary_nonpolyposis_colorectal_cancer_type_5 not_provided |
586 | 2 | 48032149 | rs766905993(chr2-48032149-CtoG) | C | G | MSH6 | MSH6:NM_001281492:exon4:c.C3149G:p.S1050X MSH6:NM_001281493:exon5:c.C2633G:p.S878X MSH6:NM_000179:exon6:c.C3539G:p.S1180X MSH6:NM_001281494:exon6:c.C2633G:p.S878X | stopgain | SO:0001587|nonsense | 428296 | 0 | Hereditary_cancer-predisposing_syndrome |
587 | 2 | 48033448 | rs876661222(chr2-48033448--toATTA) | '- | ATTA | MSH6 | MSH6:NM_001281492:exon6:c.3362_3363insATTA:p.S1121fs MSH6:NM_001281493:exon7:c.2846_2847insATTA:p.S949fs MSH6:NM_000179:exon8:c.3752_3753insATTA:p.S1251fs MSH6:NM_001281494:exon8:c.2846_2847insATTA:p.S949fs | frameshift insertion | '- | '- | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome Hereditary_nonpolyposis_colorectal_cancer_type_5 not_provided |
588 | 2 | 48033745 | rs267608120(chr2-48033745-AAGCto-) | AAGC | '- | MSH6 | MSH6:NM_001281492:exon7:c.3566_3569del:p.K1189fs MSH6:NM_001281493:exon8:c.3050_3053del:p.K1017fs MSH6:NM_000179:exon9:c.3956_3959del:p.K1319fs MSH6:NM_001281494:exon9:c.3050_3053del:p.K1017fs | frameshift deletion | '- | '- | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome Hereditary_nonpolyposis_colorectal_cancer_type_5 not_provided |
589 | 2 | 48033769 | rs267608121(chr2-48033769--toTCAG) | '- | TCAG | MSH6 | MSH6:NM_001281492:exon7:c.3590_3591insTCAG:p.N1197fs MSH6:NM_001281493:exon8:c.3074_3075insTCAG:p.N1025fs MSH6:NM_000179:exon9:c.3980_3981insTCAG:p.N1327fs MSH6:NM_001281494:exon9:c.3074_3075insTCAG:p.N1025fs | frameshift insertion | '- | '- | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome Hereditary_nonpolyposis_colorectal_cancer_type_5 not_provided |
590 | 2 | 48033975 | rs55740729(chr2-48033975--toCTGA) | '- | CTGA | MSH6 | MSH6:NM_001281492:exon8:c.3669_3670insCTGA:p.L1223fs MSH6:NM_001281493:exon9:c.3153_3154insCTGA:p.L1051fs MSH6:NM_000179:exon10:c.4059_4060insCTGA:p.L1353fs MSH6:NM_001281494:exon10:c.3153_3154insCTGA:p.L1051fs | frameshift insertion | '- | '- | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome |
591 | 2 | 48033991 | rs575068534(chr2-48033991--toAATT) | '- | AATT | MSH6 | MSH6:NM_001281492:exon8:c.3685_3686insAATT:p.E1229fs MSH6:NM_001281493:exon9:c.3169_3170insAATT:p.E1057fs MSH6:NM_000179:exon10:c.4075_4076insAATT:p.E1359fs MSH6:NM_001281494:exon10:c.3169_3170insAATT:p.E1057fs | frameshift insertion | '- | '- | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Hereditary_nonpolyposis_colorectal_cancer_type_5 not_specified |
592 | 2 | 96919794 | rs780133289(chr2-96919794-GtoA) | G | A | TMEM127 | TMEM127:NM_001193304:exon4:c.C469T:p.Q157X TMEM127:NM_017849:exon4:c.C469T:p.Q157X | stopgain | SO:0001587|nonsense | 463849 | 0 | Hereditary_Paraganglioma-Pheochromocytoma_Syndromes |
593 | 2 | 96919799 | rs886039439(chr2-96919799-AtoT) | A | T | TMEM127 | TMEM127:NM_001193304:exon4:c.T464A:p.L155X TMEM127:NM_017849:exon4:c.T464A:p.L155X | stopgain | SO:0001587|nonsense | 265271 | 0 | Hereditary_cancer-predisposing_syndrome Hereditary_Paraganglioma-Pheochromocytoma_Syndromes not_provided |
594 | 2 | 96920727 | rs771261665(chr2-96920727-TtoC) | T | C | TMEM127 | TMEM127:NM_001193304:exon3:c.A253G:p.M85V TMEM127:NM_017849:exon3:c.A253G:p.M85V | nonsynonymous SNV | SO:0001583|missense_variant | 186566 | 0 | Hereditary_cancer-predisposing_syndrome Hereditary_Paraganglioma-Pheochromocytoma_Syndromes not_provided |
595 | 2 | 96920732 | rs587781773(chr2-96920732-Ato-) | A | '- | TMEM127 | TMEM127:NM_001193304:exon3:c.248delT:p.F83fs TMEM127:NM_017849:exon3:c.248delT:p.F83fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome |
596 | 3 | 10183823 | rs5030809(chr3-10183823-TtoC) | T | C | VHL | VHL:NM_000551:exon1:c.T292C:p.Y98H VHL:NM_198156:exon1:c.T292C:p.Y98H | nonsynonymous SNV | SO:0001583|missense_variant | 2223 | 0 | Von_Hippel-Lindau_syndrome Hereditary_cancer-predisposing_syndrome Erythrocytosis,_familial,_2 not_provided |
597 | 3 | 10188208 | .(chr3-10188208-GtoA) | G | A | VHL | VHL:NM_000551:exon2:c.G351A:p.W117X | stopgain | '- | '- | 0 | . |
598 | 3 | 10188257 | .(chr3-10188257-GtoT) | G | T | VHL | VHL:NM_000551:exon2:c.G400T:p.E134X | stopgain | '- | '- | 0 | . |
599 | 3 | 10191492 | rs397516444(chr3-10191492-GtoT) | G | T | VHL | VHL:NM_198156:exon2:c.G362T:p.C121F VHL:NM_000551:exon3:c.G485T:p.C162F | nonsynonymous SNV | SO:0001583|missense_variant | 43604 | 0 | Von_Hippel-Lindau_syndrome |
600 | 3 | 10191506 | rs5030820(chr3-10191506-CtoT) | C | T | VHL | VHL:NM_198156:exon2:c.C376T:p.R126W VHL:NM_000551:exon3:c.C499T:p.R167W | nonsynonymous SNV | SO:0001583|missense_variant | 2218 | 0 | Pheochromocytoma Renal_cell_carcinoma,_papillary,_1 Von_Hippel-Lindau_syndrome Hereditary_cancer-predisposing_syndrome Erythrocytosis,_familial,_2 not_provided |
601 | 3 | 10191507 | rs5030821(chr3-10191507-GtoA) | G | A | VHL | VHL:NM_198156:exon2:c.G377A:p.R126Q VHL:NM_000551:exon3:c.G500A:p.R167Q | nonsynonymous SNV | SO:0001583|missense_variant | 2216 | 0 | Von_Hippel-Lindau_syndrome Hereditary_cancer-predisposing_syndrome Erythrocytosis,_familial,_2 not_specified not_provided |
602 | 3 | 10191569 | rs5030824(chr3-10191569-CtoG) | C | G | VHL | VHL:NM_198156:exon2:c.C439G:p.L147V VHL:NM_000551:exon3:c.C562G:p.L188V | nonsynonymous SNV | SO:0001583|missense_variant | 2225 | 0 | Pheochromocytoma Von_Hippel-Lindau_syndrome Hereditary_cancer-predisposing_syndrome Erythrocytosis,_familial,_2 not_provided |
603 | 3 | 14190232 | rs754673606(chr3-14190232-CtoT) | C | T | XPC | . | . | '- | '- | 0 | . |
604 | 3 | 14199739 | rs754532049(chr3-14199739-CAto-) | CA | '- | XPC | XPC:NM_004628:exon9:c.1643_1644del:p.V548fs | frameshift deletion | '- | '- | 0 | Xeroderma_pigmentosum,_group_C |
605 | 3 | 142168390 | rs749753899(chr3-142168390-GtoA) | G | A | ATR | ATR:NM_001184:exon47:c.C7816T:p.R2606X | stopgain | '- | '- | 0 | . |
606 | 3 | 142188183 | .(chr3-142188183-GtoC) | G | C | ATR | ATR:NM_001184:exon38:c.C6548G:p.S2183X | stopgain | '- | '- | 0 | . |
607 | 3 | 142188200 | rs764800468(chr3-142188200-CtoT) | C | T | ATR | ATR:NM_001184:exon38:c.G6531A:p.W2177X | stopgain | '- | '- | 0 | . |
608 | 3 | 142188969 | rs781260235(chr3-142188969-AGto-) | AG | '- | ATR | ATR:NM_001184:exon37:c.6277_6278del:p.L2093fs | frameshift deletion | '- | '- | 0 | . |
609 | 3 | 142217461 | rs754030624(chr3-142217461-GtoA) | G | A | ATR | ATR:NM_001184:exon32:c.C5536T:p.R1846X | stopgain | '- | '- | 0 | . |
610 | 3 | 142226885 | .(chr3-142226885--toTATC) | '- | TATC | ATR | ATR:NM_001184:exon28:c.4918_4919insGATA:p.T1640fs | frameshift insertion | '- | '- | 0 | . |
611 | 3 | 142234279 | rs770800988(chr3-142234279-AAto-) | AA | '- | ATR | ATR:NM_001184:exon25:c.4460_4461del:p.F1487fs | frameshift deletion | '- | '- | 0 | . |
612 | 3 | 142241602 | rs769216993(chr3-142241602-GtoA) | G | A | ATR | ATR:NM_001184:exon23:c.C4234T:p.R1412X | stopgain | '- | '- | 0 | . |
613 | 3 | 142272241 | rs372271245(chr3-142272241-CtoT) | C | T | ATR | . | . | '- | '- | 0 | . |
614 | 3 | 142272583 | rs755272769(chr3-142272583-CtoT) | C | T | ATR | . | . | '- | '- | 0 | . |
615 | 3 | 142279156 | rs770869293(chr3-142279156-AtoT) | A | T | ATR | ATR:NM_001184:exon6:c.T1490A:p.L497X | stopgain | '- | '- | 0 | . |
616 | 3 | 142280209 | .(chr3-142280209-CtoA) | C | A | ATR | ATR:NM_001184:exon5:c.G1225T:p.E409X | stopgain | '- | '- | 0 | . |
617 | 3 | 142281268 | rs759554602(chr3-142281268-AGto-) | AG | '- | ATR | ATR:NM_001184:exon4:c.975_976del:p.L325fs | frameshift deletion | '- | '- | 0 | . |
618 | 3 | 37042528 | rs773647920(chr3-37042528-AtoG) | A | G | MLH1 | MLH1:NM_000249:exon3:c.A290G:p.Y97C MLH1:NM_001167617:exon3:c.A1G:p.M1V MLH1:NM_001258271:exon3:c.A290G:p.Y97C | nonsynonymous SNV | SO:0001583|missense_variant SO:0001623|5_prime_UTR_variant SO:0001627|intron_variant | 184486 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome_II not_provided |
619 | 3 | 37053589 | rs63751615(chr3-37053589-CtoT) | C | T | MLH1 | MLH1:NM_000249:exon8:c.C676T:p.R226X MLH1:NM_001167617:exon8:c.C382T:p.R128X MLH1:NM_001258271:exon8:c.C676T:p.R226X | stopgain | SO:0001587|nonsense | 17087 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Turcot_syndrome Lynch_syndrome Lynch_syndrome_II not_provided |
620 | 3 | 37090017 | rs779795819(chr3-37090017--toTGAT) | '- | TGAT | MLH1 | MLH1:NM_001167619:exon16:c.1183_1184insTGAT:p.L395fs MLH1:NM_001258273:exon16:c.1183_1184insTGAT:p.L395fs MLH1:NM_000249:exon17:c.1906_1907insTGAT:p.L636fs MLH1:NM_001167617:exon17:c.1612_1613insTGAT:p.L538fs MLH1:NM_001167618:exon17:c.1183_1184insTGAT:p.L395fs MLH1:NM_001258274:exon18:c.1183_1184insTGAT:p.L395fs | frameshift insertion | '- | '- | 0 | . |
621 | 3 | 37090476 | rs780956158(chr3-37090476--toT) | '- | T | MLH1 | MLH1:NM_001167619:exon17:c.1349dupT:p.I450fs MLH1:NM_001258273:exon17:c.1349dupT:p.I450fs MLH1:NM_000249:exon18:c.2072dupT:p.I691fs MLH1:NM_001167617:exon18:c.1778dupT:p.I593fs MLH1:NM_001167618:exon18:c.1349dupT:p.I450fs MLH1:NM_001258274:exon19:c.1349dupT:p.I450fs | frameshift insertion | '- | '- | 0 | . |
622 | 3 | 37092010 | rs767094219(chr3-37092010-AtoT) | A | T | MLH1 | MLH1:NM_001258271:exon17:c.A1930T:p.K644X MLH1:NM_001167619:exon18:c.A1414T:p.K472X MLH1:NM_001258273:exon18:c.A1414T:p.K472X MLH1:NM_000249:exon19:c.A2137T:p.K713X MLH1:NM_001167617:exon19:c.A1843T:p.K615X MLH1:NM_001167618:exon19:c.A1414T:p.K472X MLH1:NM_001258274:exon20:c.A1414T:p.K472X | stopgain | '- | '- | 0 | . |
623 | 3 | 48603069 | rs143457874(chr3-48603069-GtoA) | G | A | COL7A1 | COL7A1:NM_000094:exon114:c.C8440T:p.R2814X | stopgain | SO:0001587|nonsense | 265082 | 0 | not_provided |
624 | 3 | 48604125 | .(chr3-48604125-Cto-) | C | '- | COL7A1 | COL7A1:NM_000094:exon111:c.8272delG:p.V2758fs | frameshift deletion | '- | '- | 0 | not_provided |
625 | 3 | 48605066 | rs756771873(chr3-48605066-CtoA) | C | A | COL7A1 | COL7A1:NM_000094:exon108:c.G7987T:p.E2663X | stopgain | '- | '- | 0 | . |
626 | 3 | 48605939 | rs759990189(chr3-48605939-Cto-) | C | '- | COL7A1 | COL7A1:NM_000094:exon104:c.7787delG:p.G2596fs | frameshift deletion | '- | '- | 0 | . |
627 | 3 | 48610664 | rs757406252(chr3-48610664--toA) | '- | A | COL7A1 | COL7A1:NM_000094:exon84:c.6656dupT:p.L2219fs | frameshift insertion | '- | '- | 0 | not_provided |
628 | 3 | 48611325 | rs773265287(chr3-48611325-TtoC) | T | C | COL7A1 | . | . | '- | '- | 0 | . |
629 | 3 | 48611694 | rs759644973(chr3-48611694-CtoG) | C | G | COL7A1 | . | . | '- | '- | 0 | . |
630 | 3 | 48617463 | .(chr3-48617463-CtoA) | C | A | COL7A1 | . | . | '- | '- | 0 | . |
631 | 3 | 48618698 | rs751535193(chr3-48618698-GtoA) | G | A | COL7A1 | COL7A1:NM_000094:exon51:c.C4894T:p.R1632X | stopgain | '- | 620088 | 0 | . |
632 | 3 | 48619910 | .(chr3-48619910-CtoT) | C | T | COL7A1 | . | . | '- | '- | 0 | . |
633 | 3 | 48621170 | rs753185460(chr3-48621170-Gto-) | G | '- | COL7A1 | COL7A1:NM_000094:exon39:c.4322delC:p.P1441fs | frameshift deletion | '- | '- | 0 | . |
634 | 3 | 48622501 | rs747912732(chr3-48622501--toC) | '- | C | COL7A1 | COL7A1:NM_000094:exon32:c.3942dupG:p.N1315fs | frameshift insertion | '- | '- | 0 | not_provided |
635 | 3 | 48623044 | rs757688782(chr3-48623044-Gto-) | G | '- | COL7A1 | COL7A1:NM_000094:exon31:c.3840delC:p.T1280fs | frameshift deletion | '- | '- | 0 | Transient_bullous_dermolysis_of_the_newborn not_provided |
636 | 3 | 48624705 | rs751139649(chr3-48624705-CTto-) | CT | '- | COL7A1 | COL7A1:NM_000094:exon23:c.3056_3057del:p.E1019fs | frameshift deletion | '- | '- | 0 | . |
637 | 3 | 48626396 | rs776206530(chr3-48626396-GtoA) | G | A | COL7A1 | COL7A1:NM_000094:exon18:c.C2347T:p.Q783X | stopgain | '- | '- | 0 | . |
638 | 3 | 48627691 | rs780261665(chr3-48627691-GtoA) | G | A | COL7A1 | COL7A1:NM_000094:exon15:c.C2005T:p.R669X | stopgain | SO:0001587|nonsense | 374052 | 0 | Abnormality_of_the_skin Toe_syndactyly Anonychia Short_stature Finger_syndactyly Palmoplantar_blistering Abnormal_blistering_of_the_skin Nail_dystrophy Skin_erosion not_provided |
639 | 3 | 48627972 | rs756448439(chr3-48627972-GtoC) | G | C | COL7A1 | COL7A1:NM_000094:exon14:c.C1826G:p.S609X | stopgain | '- | '- | 0 | . |
640 | 3 | 48628154 | rs144023803(chr3-48628154-GtoA) | G | A | COL7A1 | COL7A1:NM_000094:exon13:c.C1732T:p.R578X | stopgain | SO:0001587|nonsense | 372330 | 0 | Recessive_dystrophic_epidermolysis_bullosa not_provided |
641 | 3 | 48630534 | rs775288140(chr3-48630534-CtoT) | C | T | COL7A1 | . | . | SO:0001575|splice_donor_variant | 372329 | 0 | Recessive_dystrophic_epidermolysis_bullosa not_provided |
642 | 3 | 48630541 | rs753819164(chr3-48630541-GtoA) | G | A | COL7A1 | COL7A1:NM_000094:exon5:c.C676T:p.R226X | stopgain | '- | '- | 0 | . |
643 | 3 | 48630811 | rs766902987(chr3-48630811--toT) | '- | T | COL7A1 | COL7A1:NM_000094:exon4:c.497dupA:p.Q166fs | frameshift insertion | '- | '- | 0 | not_provided |
644 | 3 | 52436624 | rs387906848(chr3-52436624-GtoA) | G | A | BAP1 | BAP1:NM_004656:exon16:c.C2050T:p.Q684X | stopgain | SO:0001587|nonsense | 30302 | 0 | Tumor_susceptibility_linked_to_germline_BAP1_mutations not_provided |
645 | 3 | 52437802 | .(chr3-52437802-TTto-) | TT | '- | BAP1 | BAP1:NM_004656:exon13:c.1358_1359del:p.K453fs | frameshift deletion | '- | '- | 0 | Tumor_susceptibility_linked_to_germline_BAP1_mutations |
646 | 3 | 52437816 | rs764734266(chr3-52437816-CtoT) | C | T | BAP1 | BAP1:NM_004656:exon13:c.G1345A:p.A449T | nonsynonymous SNV | SO:0001583|missense_variant | 485264 | 0 | Hereditary_cancer-predisposing_syndrome Tumor_susceptibility_linked_to_germline_BAP1_mutations |
647 | 3 | 52440271 | rs772448753(chr3-52440271-GtoA) | G | A | BAP1 | BAP1:NM_004656:exon9:c.C781T:p.Q261X | stopgain | '- | '- | 0 | . |
648 | 3 | 52441334 | .(chr3-52441334-TtoC) | T | C | BAP1 | . | . | SO:0001574|splice_acceptor_variant | 30301 | 0 | Tumor_susceptibility_linked_to_germline_BAP1_mutations |
649 | 3 | 52441973 | rs775451516(chr3-52441973-CtoT) | C | T | BAP1 | . | . | '- | '- | 0 | . |
650 | 3 | 52442566 | .(chr3-52442566-Cto-) | C | '- | BAP1 | BAP1:NM_004656:exon4:c.179delG:p.R60fs | frameshift deletion | '- | '- | 0 | . |
651 | 4 | 41749673 | rs766220965(chr4-41749673-GAto-) | GA | '- | PHOX2B | . | . | '- | '- | 0 | . |
652 | 5 | 112090657 | rs145945630(chr5-112090657-CtoT) | C | T | APC | APC:NM_000038:exon2:c.C70T:p.R24X APC:NM_001127510:exon3:c.C70T:p.R24X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 184702 | 0 | Hereditary_cancer-predisposing_syndrome Familial_adenomatous_polyposis_1 not_specified Familial_adenomatous_polyposis not_provided |
653 | 5 | 112102093 | rs752519066(chr5-112102093-TtoA) | T | A | APC | APC:NM_001127511:exon2:c.T236A:p.L79X APC:NM_000038:exon3:c.T206A:p.L69X APC:NM_001127510:exon4:c.T206A:p.L69X | stopgain | '- | '- | 0 | . |
654 | 5 | 112128228 | rs1060503289(chr5-112128228-Tto-) | T | '- | APC | . | . | '- | '- | 0 | Familial_adenomatous_polyposis_1 |
655 | 5 | 112175925 | .(chr5-112175925-CtoA) | C | A | APC | APC:NM_001127511:exon14:c.C4580A:p.S1527X APC:NM_000038:exon16:c.C4634A:p.S1545X APC:NM_001127510:exon17:c.C4634A:p.S1545X | stopgain | SO:0001587|nonsense | 490280 | 0 | Hereditary_cancer-predisposing_syndrome |
656 | 5 | 112177113 | rs864622228(chr5-112177113-CAGAto-) | CAGA | '- | APC | APC:NM_001127511:exon14:c.5768_5771del:p.P1923fs APC:NM_000038:exon16:c.5822_5825del:p.P1941fs APC:NM_001127510:exon17:c.5822_5825del:p.P1941fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Desmoid_disease,_hereditary Familial_adenomatous_polyposis_1 not_provided |
657 | 5 | 131924564 | rs373428259(chr5-131924564-CtoT) | C | T | RAD50 | RAD50:NM_005732:exon8:c.C1237T:p.Q413X | stopgain | SO:0001587|nonsense | 184469 | 0 | Hereditary_cancer-predisposing_syndrome |
658 | 5 | 131953826 | rs368980595(chr5-131953826-CtoT) | C | T | RAD50 | RAD50:NM_005732:exon21:c.C3229T:p.R1077X | stopgain | SO:0001587|nonsense | 231200 | 0 | Hereditary_cancer-predisposing_syndrome |
659 | 5 | 131973895 | rs750586158(chr5-131973895-CtoT) | C | T | RAD50 | RAD50:NM_005732:exon23:c.C3598T:p.R1200X | stopgain | SO:0001587|nonsense | 184879 | 0 | Hereditary_cancer-predisposing_syndrome |
660 | 5 | 218471 | rs1061517(chr5-218471-AtoG) | A | G | SDHA | SDHA:NM_001294332:exon1:c.A1G:p.M1V SDHA:NM_001330758:exon1:c.A1G:p.M1V SDHA:NM_004168:exon1:c.A1G:p.M1V | nonsynonymous SNV | SO:0001583|missense_variant | 239661 | 0 | Hereditary_cancer-predisposing_syndrome Mitochondrial_complex_II_deficiency Paragangliomas_5 not_provided |
661 | 5 | 223624 | rs142441643(chr5-223624-CtoT) | C | T | SDHA | SDHA:NM_001294332:exon2:c.C91T:p.R31X SDHA:NM_001330758:exon2:c.C91T:p.R31X SDHA:NM_004168:exon2:c.C91T:p.R31X | stopgain | SO:0001587|nonsense | 142601 | 0 | Hereditary_cancer-predisposing_syndrome Pilocytic_astrocytoma Mitochondrial_complex_II_deficiency Carney_triad Paragangliomas_5 not_provided |
662 | 5 | 226094 | rs775827529(chr5-226094-CtoT) | C | T | SDHA | SDHA:NM_001294332:exon4:c.C409T:p.Q137X SDHA:NM_001330758:exon5:c.C553T:p.Q185X SDHA:NM_004168:exon5:c.C553T:p.Q185X | stopgain | SO:0001587|nonsense | 480771 | 0 | Hereditary_cancer-predisposing_syndrome Mitochondrial_complex_II_deficiency Paragangliomas_5 |
663 | 5 | 233742 | rs754307527(chr5-233742-TGto-) | TG | '- | SDHA | SDHA:NM_001294332:exon7:c.902_903del:p.L301fs SDHA:NM_001330758:exon8:c.1046_1047del:p.L349fs SDHA:NM_004168:exon8:c.1046_1047del:p.L349fs | frameshift deletion | '- | '- | 0 | . |
664 | 5 | 23509145 | rs766916228(chr5-23509145-GtoA) | G | A | PRDM9 | PRDM9:NM_001310214:exon2:c.G3A:p.M1I PRDM9:NM_020227:exon2:c.G3A:p.M1I | nonsynonymous SNV | '- | '- | 0 | . |
665 | 5 | 23509578 | rs761472771(chr5-23509578-GtoT) | G | T | PRDM9 | . | . | '- | '- | 0 | . |
666 | 5 | 23510064 | rs201284800(chr5-23510064-CtoT) | C | T | PRDM9 | PRDM9:NM_001310214:exon4:c.C229T:p.R77X PRDM9:NM_020227:exon4:c.C229T:p.R77X | stopgain | '- | '- | 0 | . |
667 | 5 | 23522412 | rs766825981(chr5-23522412-GtoA) | G | A | PRDM9 | . | . | '- | '- | 0 | . |
668 | 5 | 23523408 | rs752952955(chr5-23523408-Gto-) | G | '- | PRDM9 | PRDM9:NM_001310214:exon9:c.891delG:p.K297fs PRDM9:NM_020227:exon9:c.891delG:p.K297fs | frameshift deletion | '- | '- | 0 | . |
669 | 5 | 23524525 | rs763308508(chr5-23524525-CtoT) | C | T | PRDM9 | PRDM9:NM_001310214:exon10:c.C1033T:p.R345X PRDM9:NM_020227:exon10:c.C1033T:p.R345X | stopgain | '- | '- | 0 | . |
670 | 5 | 23526379 | .(chr5-23526379-TtoA) | T | A | PRDM9 | PRDM9:NM_001310214:exon11:c.T1182A:p.C394X PRDM9:NM_020227:exon11:c.T1182A:p.C394X | stopgain | '- | '- | 0 | . |
671 | 5 | 23527664 | .(chr5-23527664-CtoT) | C | T | PRDM9 | PRDM9:NM_001310214:exon11:c.C2467T:p.Q823X PRDM9:NM_020227:exon11:c.C2467T:p.Q823X | stopgain | '- | '- | 0 | . |
672 | 5 | 23527748 | rs373686049(chr5-23527748-CtoT) | C | T | PRDM9 | PRDM9:NM_001310214:exon11:c.C2551T:p.Q851X PRDM9:NM_020227:exon11:c.C2551T:p.Q851X | stopgain | '- | '- | 0 | . |
673 | 5 | 23527861 | rs748406023(chr5-23527861-CtoG) | C | G | PRDM9 | PRDM9:NM_001310214:exon11:c.C2664G:p.Y888X PRDM9:NM_020227:exon11:c.C2664G:p.Y888X | stopgain | '- | '- | 0 | . |
674 | 5 | 251219 | rs766667009(chr5-251219-GtoT) | G | T | SDHA | . | . | SO:0001575|splice_donor_variant SO:0001627|intron_variant | 231173 | 0 | Hereditary_cancer-predisposing_syndrome Mitochondrial_complex_II_deficiency Paragangliomas_5 |
675 | 6 | 26091269 | rs28934597(chr6-26091269-GtoC) | G | C | HFE | HFE:NM_000410:exon2:c.G277C:p.G93R HFE:NM_001300749:exon2:c.G277C:p.G93R HFE:NM_139003:exon2:c.G277C:p.G93R HFE:NM_139004:exon2:c.G277C:p.G93R HFE:NM_139006:exon2:c.G277C:p.G93R HFE:NM_139009:exon2:c.G208C:p.G70R | nonsynonymous SNV | SO:0001583|missense_variant SO:0001627|intron_variant | 13 | 0 | Hemochromatosis_type_1 |
676 | 6 | 26091269 | rs773296212(chr6-26091269-Gto-) | G | '- | HFE | HFE:NM_000410:exon2:c.277delG:p.G93fs HFE:NM_001300749:exon2:c.277delG:p.G93fs HFE:NM_139003:exon2:c.277delG:p.G93fs HFE:NM_139004:exon2:c.277delG:p.G93fs HFE:NM_139006:exon2:c.277delG:p.G93fs HFE:NM_139009:exon2:c.208delG:p.G70fs | frameshift deletion | '- | '- | 0 | . |
677 | 6 | 35423630 | rs121434505(chr6-35423630-CtoT) | C | T | FANCE | FANCE:NM_021922:exon2:c.C355T:p.Q119X | stopgain | SO:0001587|nonsense | 8709 | 0 | Fanconi_anemia,_complementation_group_E |
678 | 6 | 43555226 | rs767433001(chr6-43555226-GtoT) | G | T | POLH | POLH:NM_001291970:exon4:c.G490T:p.E164X POLH:NM_006502:exon4:c.G490T:p.E164X | stopgain | SO:0001587|nonsense SO:0001627|intron_variant | 225444 | 0 | Xeroderma_pigmentosum,_variant_type |
679 | 6 | 43568829 | rs772570523(chr6-43568829-GtoA) | G | A | POLH | . | . | SO:0001575|splice_donor_variant | 224062 | 0 | Xeroderma_pigmentosum,_variant_type |
680 | 7 | 116417464 | rs121913243(chr7-116417464-AtoG) | A | G | MET | MET:NM_001324402:exon15:c.A1991G:p.H664R MET:NM_000245:exon16:c.A3281G:p.H1094R MET:NM_001127500:exon16:c.A3335G:p.H1112R | nonsynonymous SNV | SO:0001583|missense_variant | 13887 | 0 | Renal_cell_carcinoma,_papillary,_1 Kidney_Carcinoma not_provided |
681 | 7 | 124464069 | rs758673417(chr7-124464069-TAto-) | TA | '- | POT1 | POT1:NM_001042594:exon18:c.1458_1459del:p.D486fs POT1:NM_015450:exon19:c.1851_1852del:p.D617fs | frameshift deletion | '- | '- | 0 | Melanoma,_cutaneous_malignant,_susceptibility_to,_10 Glioma_susceptibility_9 |
682 | 7 | 124465332 | rs771968149(chr7-124465332-ATto-) | AT | '- | POT1 | POT1:NM_001042594:exon17:c.1372_1373del:p.M458fs POT1:NM_015450:exon18:c.1765_1766del:p.M589fs | frameshift deletion | '- | '- | 0 | Melanoma,_cutaneous_malignant,_susceptibility_to,_10 |
683 | 7 | 124481102 | rs758341603(chr7-124481102-GtoA) | G | A | POT1 | POT1:NM_001042594:exon13:c.C901T:p.R301X POT1:NM_015450:exon14:c.C1294T:p.R432X | stopgain | SO:0001587|nonsense | 541876 | 0 | Melanoma,_cutaneous_malignant,_susceptibility_to,_10 |
684 | 7 | 124481233 | rs866612394(chr7-124481233-CtoT) | C | T | POT1 | . | . | SO:0001574|splice_acceptor_variant | 475026 | 0 | Melanoma,_cutaneous_malignant,_susceptibility_to,_10 |
685 | 7 | 124482937 | rs756198077(chr7-124482937-GtoA) | G | A | POT1 | POT1:NM_001042594:exon12:c.C694T:p.R232X POT1:NM_015450:exon13:c.C1087T:p.R363X | stopgain | SO:0001587|nonsense | 475019 | 0 | Melanoma,_cutaneous_malignant,_susceptibility_to,_10 |
686 | 7 | 124482952 | rs750470470(chr7-124482952--toA) | '- | A | POT1 | POT1:NM_001042594:exon12:c.678dupT:p.Q227fs POT1:NM_015450:exon13:c.1071dupT:p.Q358fs | frameshift insertion | '- | '- | 0 | Melanoma,_cutaneous_malignant,_susceptibility_to,_10 not_provided |
687 | 7 | 124503691 | .(chr7-124503691--toA) | '- | A | POT1 | POT1:NM_015450:exon8:c.258dupT:p.Q87fs | frameshift insertion | '- | '- | 0 | . |
688 | 7 | 142459789 | rs111033565(chr7-142459789-GtoA) | G | A | PRSS1 | PRSS1:NM_002769:exon3:c.G365A:p.R122H | nonsynonymous SNV | SO:0001583|missense_variant | 11876 | 0 | Hereditary_pancreatitis not_provided |
689 | 7 | 6018306 | rs63750695(chr7-6018306-AGTTAto-) | AGTTA | '- | PMS2 | PMS2:NM_001322008:exon11:c.1874_1878del:p.L625fs PMS2:NM_001322010:exon11:c.1631_1635del:p.L544fs PMS2:NM_001322004:exon12:c.1787_1791del:p.L596fs PMS2:NM_001322006:exon12:c.2036_2040del:p.L679fs PMS2:NM_001322007:exon12:c.1874_1878del:p.L625fs PMS2:NM_001322013:exon12:c.1619_1623del:p.L540fs PMS2:NM_000535:exon13:c.2192_2196del:p.L731fs PMS2:NM_001322003:exon13:c.1787_1791del:p.L596fs PMS2:NM_001322005:exon13:c.1787_1791del:p.L596fs PMS2:NM_001322009:exon13:c.1787_1791del:p.L596fs PMS2:NM_001322011:exon13:c.1259_1263del:p.L420fs PMS2:NM_001322012:exon13:c.1259_1263del:p.L420fs PMS2:NM_001322014:exon13:c.2192_2196del:p.L731fs PMS2:NM_001322015:exon13:c.1883_1887del:p.L628fs | frameshift deletion | '- | '- | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome Hereditary_nonpolyposis_colorectal_cancer_type_4 not_provided |
690 | 7 | 6026386 | rs771928911(chr7-6026386-TTACCto-) | TTACC | '- | PMS2 | PMS2:NM_001322008:exon9:c.1688_1688del:p.S563fs PMS2:NM_001322010:exon9:c.1445_1445del:p.S482fs PMS2:NM_001322004:exon10:c.1601_1601del:p.S534fs PMS2:NM_001322006:exon10:c.1850_1850del:p.S617fs PMS2:NM_001322007:exon10:c.1688_1688del:p.S563fs PMS2:NM_001322013:exon10:c.1433_1433del:p.S478fs PMS2:NM_000535:exon11:c.2006_2006del:p.S669fs PMS2:NM_001322003:exon11:c.1601_1601del:p.S534fs PMS2:NM_001322005:exon11:c.1601_1601del:p.S534fs PMS2:NM_001322009:exon11:c.1601_1601del:p.S534fs PMS2:NM_001322011:exon11:c.1073_1073del:p.S358fs PMS2:NM_001322012:exon11:c.1073_1073del:p.S358fs PMS2:NM_001322014:exon11:c.2006_2006del:p.S669fs PMS2:NM_001322015:exon11:c.1697_1697del:p.S566fs | frameshift deletion | '- | '- | 0 | . |
691 | 7 | 6026514 | rs63750451(chr7-6026514-GtoA) | G | A | PMS2 | PMS2:NM_001322008:exon9:c.C1564T:p.R522X PMS2:NM_001322010:exon9:c.C1321T:p.R441X PMS2:NM_001322004:exon10:c.C1477T:p.R493X PMS2:NM_001322006:exon10:c.C1726T:p.R576X PMS2:NM_001322007:exon10:c.C1564T:p.R522X PMS2:NM_001322013:exon10:c.C1309T:p.R437X PMS2:NM_000535:exon11:c.C1882T:p.R628X PMS2:NM_001322003:exon11:c.C1477T:p.R493X PMS2:NM_001322005:exon11:c.C1477T:p.R493X PMS2:NM_001322009:exon11:c.C1477T:p.R493X PMS2:NM_001322011:exon11:c.C949T:p.R317X PMS2:NM_001322012:exon11:c.C949T:p.R317X PMS2:NM_001322014:exon11:c.C1882T:p.R628X PMS2:NM_001322015:exon11:c.C1573T:p.R525X | stopgain | SO:0001587|nonsense | 9242 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome Hereditary_nonpolyposis_colorectal_cancer_type_4 not_provided |
692 | 7 | 6026564 | rs63750250(chr7-6026564--toT) | '- | T | PMS2 | PMS2:NM_001322008:exon9:c.1513dupA:p.I505fs PMS2:NM_001322010:exon9:c.1270dupA:p.I424fs PMS2:NM_001322004:exon10:c.1426dupA:p.I476fs PMS2:NM_001322006:exon10:c.1675dupA:p.I559fs PMS2:NM_001322007:exon10:c.1513dupA:p.I505fs PMS2:NM_001322013:exon10:c.1258dupA:p.I420fs PMS2:NM_000535:exon11:c.1831dupA:p.I611fs PMS2:NM_001322003:exon11:c.1426dupA:p.I476fs PMS2:NM_001322005:exon11:c.1426dupA:p.I476fs PMS2:NM_001322009:exon11:c.1426dupA:p.I476fs PMS2:NM_001322011:exon11:c.898dupA:p.I300fs PMS2:NM_001322012:exon11:c.898dupA:p.I300fs PMS2:NM_001322014:exon11:c.1831dupA:p.I611fs PMS2:NM_001322015:exon11:c.1522dupA:p.I508fs | frameshift insertion | '- | '- | 0 | Lymphoma Burkitt_lymphoma Glioblastoma Hereditary_nonpolyposis_colon_cancer Acute_lymphoid_leukemia Hereditary_cancer-predisposing_syndrome Lynch_syndrome Lynch_syndrome_I not_specified not_provided |
693 | 7 | 6026709 | rs587778618(chr7-6026709-GtoA) | G | A | PMS2 | PMS2:NM_001322008:exon9:c.C1369T:p.R457X PMS2:NM_001322010:exon9:c.C1126T:p.R376X PMS2:NM_001322004:exon10:c.C1282T:p.R428X PMS2:NM_001322006:exon10:c.C1531T:p.R511X PMS2:NM_001322007:exon10:c.C1369T:p.R457X PMS2:NM_001322013:exon10:c.C1114T:p.R372X PMS2:NM_000535:exon11:c.C1687T:p.R563X PMS2:NM_001322003:exon11:c.C1282T:p.R428X PMS2:NM_001322005:exon11:c.C1282T:p.R428X PMS2:NM_001322009:exon11:c.C1282T:p.R428X PMS2:NM_001322011:exon11:c.C754T:p.R252X PMS2:NM_001322012:exon11:c.C754T:p.R252X PMS2:NM_001322014:exon11:c.C1687T:p.R563X PMS2:NM_001322015:exon11:c.C1378T:p.R460X | stopgain | SO:0001587|nonsense | 135067 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome not_specified not_provided |
694 | 7 | 6026717 | rs757989905(chr7-6026717-CtoT) | C | T | PMS2 | PMS2:NM_001322008:exon9:c.G1361A:p.C454Y PMS2:NM_001322010:exon9:c.G1118A:p.C373Y PMS2:NM_001322004:exon10:c.G1274A:p.C425Y PMS2:NM_001322006:exon10:c.G1523A:p.C508Y PMS2:NM_001322007:exon10:c.G1361A:p.C454Y PMS2:NM_001322013:exon10:c.G1106A:p.C369Y PMS2:NM_000535:exon11:c.G1679A:p.C560Y PMS2:NM_001322003:exon11:c.G1274A:p.C425Y PMS2:NM_001322005:exon11:c.G1274A:p.C425Y PMS2:NM_001322009:exon11:c.G1274A:p.C425Y PMS2:NM_001322011:exon11:c.G746A:p.C249Y PMS2:NM_001322012:exon11:c.G746A:p.C249Y PMS2:NM_001322014:exon11:c.G1679A:p.C560Y PMS2:NM_001322015:exon11:c.G1370A:p.C457Y | nonsynonymous SNV | SO:0001583|missense_variant | 455666 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome |
695 | 7 | 6027179 | rs759692592(chr7-6027179-AtoT) | A | T | PMS2 | PMS2:NM_001322008:exon9:c.T899A:p.L300X PMS2:NM_001322010:exon9:c.T656A:p.L219X PMS2:NM_001322004:exon10:c.T812A:p.L271X PMS2:NM_001322006:exon10:c.T1061A:p.L354X PMS2:NM_001322007:exon10:c.T899A:p.L300X PMS2:NM_001322013:exon10:c.T644A:p.L215X PMS2:NM_000535:exon11:c.T1217A:p.L406X PMS2:NM_001322003:exon11:c.T812A:p.L271X PMS2:NM_001322005:exon11:c.T812A:p.L271X PMS2:NM_001322009:exon11:c.T812A:p.L271X PMS2:NM_001322011:exon11:c.T284A:p.L95X PMS2:NM_001322012:exon11:c.T284A:p.L95X PMS2:NM_001322014:exon11:c.T1217A:p.L406X PMS2:NM_001322015:exon11:c.T908A:p.L303X | stopgain | '- | '- | 0 | . |
696 | 7 | 6029461 | .(chr7-6029461--toTA) | '- | TA | PMS2 | PMS2:NM_001322008:exon8:c.795_796insTA:p.V266_S267delinsX PMS2:NM_001322004:exon9:c.708_709insTA:p.V237_S238delinsX PMS2:NM_001322007:exon9:c.795_796insTA:p.V266_S267delinsX PMS2:NM_001322013:exon9:c.540_541insTA:p.V181_S182delinsX PMS2:NM_000535:exon10:c.1113_1114insTA:p.V372_S373delinsX PMS2:NM_001322003:exon10:c.708_709insTA:p.V237_S238delinsX PMS2:NM_001322005:exon10:c.708_709insTA:p.V237_S238delinsX PMS2:NM_001322009:exon10:c.708_709insTA:p.V237_S238delinsX PMS2:NM_001322011:exon10:c.180_181insTA:p.V61_S62delinsX PMS2:NM_001322012:exon10:c.180_181insTA:p.V61_S62delinsX PMS2:NM_001322014:exon10:c.1113_1114insTA:p.V372_S373delinsX PMS2:NM_001322015:exon10:c.804_805insTA:p.V269_S270delinsX | stopgain | '- | '- | 0 | . |
697 | 7 | 6029587 | rs587780064(chr7-6029587-CtoA) | C | A | PMS2 | . | . | SO:0001574|splice_acceptor_variant SO:0001627|intron_variant | 127802 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome not_provided |
698 | 7 | 6043320 | rs113517055(chr7-6043320-CtoT) | C | T | PMS2 | . | . | SO:0001575|splice_donor_variant SO:0001627|intron_variant | 234652 | 0 | Hereditary_nonpolyposis_colon_cancer not_provided |
699 | 7 | 6043425 | rs587779340(chr7-6043425-TtoA) | T | A | PMS2 | . | . | SO:0001574|splice_acceptor_variant SO:0001627|intron_variant | 183893 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome Hereditary_nonpolyposis_colorectal_cancer_type_4 not_provided |
700 | 7 | 6043613 | rs143162541(chr7-6043613-GtoA) | G | A | PMS2 | PMS2:NM_001322008:exon2:c.C25T:p.R9X PMS2:NM_001322007:exon3:c.C25T:p.R9X | stopgain | SO:0001587|nonsense SO:0001623|5_prime_UTR_variant SO:0001819|synonymous_variant | 138705 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome not_specified not_provided |
701 | 7 | 6045602 | rs750777196(chr7-6045602-Ato-) | A | '- | PMS2 | PMS2:NM_000535:exon2:c.84delT:p.S28fs PMS2:NM_001322006:exon2:c.84delT:p.S28fs PMS2:NM_001322014:exon2:c.84delT:p.S28fs | frameshift deletion | '- | '- | 0 | . |
702 | 7 | 6048627 | rs587782074(chr7-6048627-CtoA) | C | A | PMS2 | . | . | SO:0001575|splice_donor_variant SO:0001623|5_prime_UTR_variant | 141871 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome not_provided |
703 | 7 | 6048649 | rs587780059(chr7-6048649-AtoG) | A | G | PMS2 | PMS2:NM_000535:exon1:c.T2C:p.M1T PMS2:NM_001322006:exon1:c.T2C:p.M1T PMS2:NM_001322014:exon1:c.T2C:p.M1T | nonsynonymous SNV | SO:0001583|missense_variant SO:0001623|5_prime_UTR_variant | 127788 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Hereditary_nonpolyposis_colorectal_cancer_type_4 not_provided |
704 | 7 | 6048650 | rs587779333(chr7-6048650-TtoA) | T | A | PMS2 | PMS2:NM_000535:exon1:c.A1T:p.M1L PMS2:NM_001322006:exon1:c.A1T:p.M1L PMS2:NM_001322014:exon1:c.A1T:p.M1L | nonsynonymous SNV | SO:0001583|missense_variant SO:0001623|5_prime_UTR_variant | 142777 | 0 | Hereditary_nonpolyposis_colon_cancer Hereditary_cancer-predisposing_syndrome Lynch_syndrome not_provided |
705 | 7 | 66453459 | rs113993998(chr7-66453459-GtoA) | G | A | SBDS | SBDS:NM_016038:exon5:c.C652T:p.R218X | stopgain | SO:0001587|nonsense | 21545 | 0 | Shwachman_syndrome |
706 | 8 | 118812031 | rs764391436(chr8-118812031-GtoA) | G | A | EXT1 | EXT1:NM_000127:exon11:c.C2161T:p.Q721X | stopgain | '- | '- | 0 | . |
707 | 8 | 145738492 | rs752729755(chr8-145738492-ATto-) | AT | '- | RECQL4 | RECQL4:NM_004260:exon16:c.2492_2493del:p.H831fs | frameshift deletion | '- | '- | 0 | Rothmund-Thomson_syndrome Baller-Gerold_syndrome |
708 | 8 | 145738522 | rs398124117(chr8-145738522-CtoG) | C | G | RECQL4 | . | . | SO:0001574|splice_acceptor_variant | 94889 | 0 | Rothmund-Thomson_syndrome Baller-Gerold_syndrome |
709 | 8 | 145740367 | rs386833845(chr8-145740367-Ato-) | A | '- | RECQL4 | RECQL4:NM_004260:exon9:c.1573delT:p.C525fs | frameshift deletion | '- | '- | 0 | Rothmund-Thomson_syndrome Baller-Gerold_syndrome Rapadilino_syndrome |
710 | 8 | 30938648 | rs17847577(chr8-30938648-CtoT) | C | T | WRN | WRN:NM_000553:exon9:c.C1105T:p.R369X | stopgain | SO:0001587|nonsense | 5449 | 0 | Medulloblastoma Werner_syndrome |
711 | 8 | 90955525 | rs730881864(chr8-90955525-GtoA) | G | A | NBN | NBN:NM_002485:exon14:c.C2140T:p.R714X NBN:NM_001024688:exon15:c.C1894T:p.R632X | stopgain | SO:0001587|nonsense | 182737 | 0 | Aplastic_anemia Acute_lymphoid_leukemia Hereditary_cancer-predisposing_syndrome Microcephaly,_normal_intelligence_and_immunodeficiency not_provided |
712 | 8 | 90955548 | rs730881857(chr8-90955548-GtoC) | G | C | NBN | NBN:NM_002485:exon14:c.C2117G:p.S706X NBN:NM_001024688:exon15:c.C1871G:p.S624X | stopgain | SO:0001587|nonsense | 182728 | 0 | Hereditary_cancer-predisposing_syndrome Microcephaly,_normal_intelligence_and_immunodeficiency not_provided |
713 | 8 | 90967766 | rs587781969(chr8-90967766-Gto-) | G | '- | NBN | NBN:NM_002485:exon10:c.1142delC:p.P381fs NBN:NM_001024688:exon11:c.896delC:p.P299fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Microcephaly,_normal_intelligence_and_immunodeficiency not_provided |
714 | 8 | 90983402 | rs587780100(chr8-90983402-TGTTto-) | TGTT | '- | NBN | NBN:NM_002485:exon6:c.698_701del:p.K233fs NBN:NM_001024688:exon7:c.452_455del:p.K151fs | frameshift deletion | '- | '- | 0 | Hereditary_cancer-predisposing_syndrome Microcephaly,_normal_intelligence_and_immunodeficiency not_provided |
715 | 8 | 90994994 | rs200287925(chr8-90994994-GtoA) | G | A | NBN | NBN:NM_002485:exon2:c.C127T:p.R43X | stopgain | SO:0001587|nonsense SO:0001623|5_prime_UTR_variant | 142203 | 0 | Hereditary_cancer-predisposing_syndrome Microcephaly,_normal_intelligence_and_immunodeficiency not_provided |
716 | 9 | 100437861 | rs104894132(chr9-100437861-GtoA) | G | A | XPA | XPA:NM_000380:exon6:c.C682T:p.R228X | stopgain | SO:0001587|nonsense | 995 | 0 | Xeroderma_pigmentosum,_type_1 |
717 | 9 | 135779801 | .(chr9-135779801-CtoA) | C | A | TSC1 | TSC1:NM_001162427:exon15:c.G1885T:p.G629X TSC1:NM_000368:exon16:c.G2038T:p.G680X TSC1:NM_001162426:exon16:c.G2035T:p.G679X | stopgain | '- | '- | 0 | . |
718 | 9 | 135781317 | rs118203553(chr9-135781317-GtoC) | G | C | TSC1 | TSC1:NM_001162427:exon14:c.C1495G:p.Q499E TSC1:NM_000368:exon15:c.C1648G:p.Q550E TSC1:NM_001162426:exon15:c.C1645G:p.Q549E | nonsynonymous SNV | SO:0001583|missense_variant | 41691 | 0 | Hereditary_cancer-predisposing_syndrome Tuberous_sclerosis_syndrome Tuberous_sclerosis_1 not_specified not_provided |
719 | 9 | 21931093 | rs765736538(chr9-21931093-Cto-) | C | '- | MTAP;CDKN2A-AS1 | . | . | '- | '- | 0 | . |
720 | 9 | 21970974 | rs199901898(chr9-21970974-CtoT) | C | T | CDKN2A | CDKN2A:NM_000077:exon2:c.G384A:p.R128R CDKN2A:NM_001195132:exon2:c.G384A:p.R128R | synonymous SNV | SO:0001624|3_prime_UTR_variant SO:0001819|synonymous_variant | 184241 | 0 | Hereditary_cancer-predisposing_syndrome Hereditary_cutaneous_melanoma Melanoma-pancreatic_cancer_syndrome |
721 | 9 | 21971139 | rs730881679(chr9-21971139-GtoA) | G | A | CDKN2A | CDKN2A:NM_058195:exon2:c.C262T:p.R88X | stopgain | '- | '- | 0 | . |
722 | 9 | 21974506 | rs753316964(chr9-21974506--toA) | '- | A | CDKN2A | CDKN2A:NM_058197:exon1:c.320dupT:p.L107fs | frameshift insertion | '- | '- | 0 | Melanoma-pancreatic_cancer_syndrome |
723 | 9 | 21974782 | rs138677674(chr9-21974782-CtoT) | C | T | CDKN2A | CDKN2A:NM_000077:exon1:c.G45A:p.W15X CDKN2A:NM_001195132:exon1:c.G45A:p.W15X CDKN2A:NM_058197:exon1:c.G45A:p.W15X | stopgain | '- | '- | 0 | . |
724 | 9 | 21994233 | rs779306249(chr9-21994233--toC) | '- | C | CDKN2A | CDKN2A:NM_058195:exon1:c.97dupG:p.E33fs | frameshift insertion | '- | '- | 0 | Hereditary_cutaneous_melanoma |
725 | 9 | 271626 | rs192864327(chr9-271626-GtoT) | G | T | DOCK8 | . | . | SO:0001574|splice_acceptor_variant SO:0001636|2KB_upstream_variant | 265359 | 0 | Hyperimmunoglobulin_E_recurrent_infection_syndrome,_autosomal_recessive not_provided |
726 | 9 | 35075275 | rs149616199(chr9-35075275-CtoG) | C | G | FANCG | . | . | SO:0001575|splice_donor_variant | 6717 | 0 | Fanconi_anemia Fanconi_anemia,_complementation_group_G |
727 | 9 | 35078335 | rs121434425(chr9-35078335-CtoA) | C | A | FANCG | FANCG:NM_004629:exon4:c.G313T:p.E105X | stopgain | SO:0001587|nonsense | 6712 | 0 | Fanconi_anemia Fanconi_anemia,_complementation_group_G |
728 | 9 | 36930884 | .(chr9-36930884-CtoT) | C | T | PAX5 | . | . | '- | '- | 0 | . |
729 | 9 | 97912338 | rs121917783(chr9-97912338-GtoA) | G | A | FANCC | FANCC:NM_000136:exon7:c.C553T:p.R185X FANCC:NM_001243743:exon7:c.C553T:p.R185X FANCC:NM_001243744:exon7:c.C553T:p.R185X | stopgain | SO:0001587|nonsense | 12044 | 0 | Fanconi_anemia Hereditary_cancer-predisposing_syndrome Fanconi_anemia,_complementation_group_C not_provided |
730 | 9 | 98011537 | rs121917784(chr9-98011537-GtoA) | G | A | FANCC | FANCC:NM_000136:exon2:c.C37T:p.Q13X FANCC:NM_001243743:exon2:c.C37T:p.Q13X FANCC:NM_001243744:exon2:c.C37T:p.Q13X | stopgain | SO:0001587|nonsense | 12046 | 0 | Fanconi_anemia Fanconi_anemia,_complementation_group_C not_provided |
731 | 9 | 98238340 | rs776154605(chr9-98238340-Gto-) | G | '- | PTCH1 | PTCH1:NM_000264:exon12:c.1704delC:p.P568fs PTCH1:NM_001083602:exon12:c.1506delC:p.P502fs PTCH1:NM_001083603:exon12:c.1701delC:p.P567fs PTCH1:NM_001083604:exon12:c.1251delC:p.P417fs PTCH1:NM_001083605:exon12:c.1251delC:p.P417fs PTCH1:NM_001083606:exon12:c.1251delC:p.P417fs PTCH1:NM_001083607:exon12:c.1251delC:p.P417fs | frameshift deletion | '- | '- | 0 | Gorlin_syndrome |
732 | 9 | 98244421 | rs780378700(chr9-98244421-CtoT) | C | T | PTCH1 | PTCH1:NM_000264:exon4:c.G649A:p.D217N PTCH1:NM_001083602:exon4:c.G451A:p.D151N PTCH1:NM_001083603:exon4:c.G646A:p.D216N PTCH1:NM_001083604:exon4:c.G196A:p.D66N PTCH1:NM_001083605:exon4:c.G196A:p.D66N PTCH1:NM_001083606:exon4:c.G196A:p.D66N PTCH1:NM_001083607:exon4:c.G196A:p.D66N | nonsynonymous SNV | '- | '- | 0 | . |
733 | 9 | 98279099 | rs752765582(chr9-98279099-Cto-) | C | '- | PTCH1 | PTCH1:NM_001083603:exon1:c.4delG:p.E2fs | frameshift deletion | '- | '- | 0 | Anophthalmia_-_microphthalmia |
734 | 9 | 98279102 | rs755103500(chr9-98279102-TtoC) | T | C | PTCH1 | PTCH1:NM_001083603:exon1:c.A1G:p.M1V | nonsynonymous SNV | '- | '- | 0 | . |
735 | X | 153997508 | rs146700772(chrX-153997508-AtoC) | A | C | DKC1 | DKC1:NM_001142463:exon9:c.A838C:p.S280R DKC1:NM_001288747:exon9:c.A838C:p.S280R DKC1:NM_001363:exon9:c.A838C:p.S280R | nonsynonymous SNV | SO:0001583|missense_variant | 38952 | 0 | Dyskeratosis_congenita Dyskeratosis_congenita_X-linked |
736 | X | 66937326 | rs137852593(chrX-66937326-GtoT) | G | T | AR | AR:NM_000044:exon5:c.G2180T:p.R727L AR:NM_001011645:exon6:c.G584T:p.R195L | nonsynonymous SNV | SO:0001583|missense_variant | 9849 | 0 | Prostate_cancer_susceptibility |