1-201843969-A-C |
IPO9 |
c.2843A>C |
p.Asn948Thr |
Missense |
22/24 |
- |
1-149906999-C-G |
MTMR11 |
c.132G>C |
p.Gln44His |
Missense |
4/17 |
- |
22-29130589-A-T |
CHEK2 |
c.121T>A |
p.Ser41Thr |
Missense |
2/16 |
- |
1-201843969-A-G |
IPO9 |
c.2843A>G |
p.Asn948Ser |
Missense |
22/24 |
- |
15-45401034-C-T |
DUOX2 |
c.1351G>A |
p.Asp451Asn |
Missense |
12/34 |
- |
17-72351406-C-T |
KIF19 |
c.2952C>T |
p.His984His |
Synonymous |
20/20 |
- |
5-72419402-G-A |
TMEM171 |
c.202G>A |
p.Val68Met |
Missense |
2/4 |
- |
2-207172889-C-T |
ZDBF2 |
c.3637C>T |
p.Arg1213Trp |
Missense |
5/5 |
- |
12-6649710-G-A |
IFFO1 |
c.1628C>T |
p.Pro543Leu |
Missense |
10/10 |
- |
12-28605426-G-A |
CCDC91 |
c.940G>A |
p.Val314Met |
Missense |
11/13 |
- |
2-202625615-C-T |
ALS2 |
c.1102G>A |
p.Val368Met |
Missense |
4/34 |
- |
9-98638273-C-G |
ERCC6L2 |
c.1-15C>G |
- |
5-UTRSNV |
1/14 |
- |
19-41950049-G-A |
ERICH4 |
c.313G>A |
p.Glu105Lys |
Missense |
2/2 |
- |
19-42083820-C-T |
CEACAM21 |
c.333C>T |
p.Asn111Asn |
Synonymous |
2/7 |
- |
5-176013823-C-T |
CDHR2 |
c.2836C>T |
p.Arg946Trp |
Missense |
21/32 |
- |
5-176013823-C-A |
CDHR2 |
c.2836C>A |
p.Arg946Arg |
Synonymous |
21/32 |
- |
19-42083820-C-G |
CEACAM21 |
c.333C>G |
p.Asn111Lys |
Missense |
2/7 |
- |
17-47243608-C-T |
B4GALNT2 |
c.1267C>T |
p.Leu423Leu |
Synonymous |
9/11 |
- |
17-47243608-C-G |
B4GALNT2 |
c.1267C>G |
p.Leu423Val |
Missense |
9/11 |
- |
2-85922506-A-G |
GNLY |
c.116A>G |
p.Glu39Gly |
Missense |
2/5 |
- |
10-104572682-C-T |
WBP1L |
c.623C>T |
p.Pro208Leu |
Missense |
4/4 |
- |
8-23225732-G-A |
LOXL2 |
c.133C>T |
p.His45Tyr |
Missense |
2/14 |
- |
11-102713560-G-T |
MMP3 |
c.193C>A |
p.Arg65Arg |
Synonymous |
2/10 |
- |
6-13977469-G-C |
RNF182 |
c.119G>C |
p.Cys40Ser |
Missense |
3/3 |
- |
22-39138332-G-A |
SUN2 |
c.1105C>T |
p.Arg369Cys |
Missense |
9/18 |
- |
12-96077310-C-A |
NTN4 |
c.1358G>T |
p.Gly453Val |
Missense |
6/10 |
- |
1-1322654-C-T |
CCNL2 |
c.1520G>A |
p.Arg507His |
Missense |
11/11 |
- |
18-23901159-T-C |
TAF4B |
c.2128T>C |
p.Tyr710His |
Missense |
11/15 |
- |
1-54477864-C-G |
LDLRAD1 |
c.292G>C |
p.Gly98Arg |
Missense |
4/6 |
- |
12-56998559-C-T |
BAZ2A |
c.2779G>A |
p.Val927Met |
Missense |
15/29 |
- |
3-49462856-A-G |
NICN1 |
c.439T>C |
p.Phe147Leu |
Missense |
4/6 |
- |
17-41245136-C-G |
BRCA1 |
c.2412G>C |
p.Gln804His |
Missense |
10/23 |
- |
17-41245136-C-T |
BRCA1 |
c.2412G>A |
p.Gln804Gln |
Synonymous |
10/23 |
- |
17-47075135-A-G |
IGF2BP1 |
c.28A>G |
p.Asn10Asp |
Missense |
1/15 |
- |
11-75439894-A-G |
MOGAT2 |
c.710A>G |
p.Asn237Ser |
Missense |
5/6 |
- |
19-51518112-A-T |
KLK10 |
c.775T>A |
p.Tyr259Asn |
Missense |
6/6 |
- |
3-128369597-G-C |
RPN1 |
c.47C>G |
p.Thr16Ser |
Missense |
1/10 |
- |
16-23634293-C-G |
PALB2 |
c.2993G>C |
p.Gly998Ala |
Missense |
9/13 |
- |
16-23634293-C-T |
PALB2 |
c.2993G>A |
p.Gly998Glu |
Missense |
9/13 |
- |
17-41245471-C-T |
BRCA1 |
c.2077G>A |
p.Asp693Asn |
Missense |
10/23 |
- |
5-1264587-G-T |
TERT |
c.2654+1992C>A |
- |
IntronicSNV |
- |
10/14 |
5-1264587-G-A |
TERT |
c.2654+1992C>T |
- |
IntronicSNV |
- |
10/14 |
8-16007800-C-A |
MSR1 |
c.919G>T |
p.Asp307Tyr |
Missense |
7/9 |
- |
6-129980436-T-G |
ARHGAP18 |
c.114-17273A>C |
- |
IntronicSNV |
- |
1/14 |
7-4259879-A-T |
SDK1 |
c.5678A>T |
p.Asn1893Ile |
Missense |
39/45 |
- |
10-96541615-C-T |
CYP2C19 |
c.680C>T |
p.Pro227Leu |
Missense |
5/9 |
- |
20-32255441-C-A |
ACTL10 |
c.138C>A |
p.Asn46Lys |
Missense |
1/1 |
- |
6-32408735-A-C |
HLA-DRA |
c.82+926A>C |
- |
IntronicSNV |
- |
1/4 |
3-169644903-C-G |
SAMD7 |
c.853C>G |
p.Gln285Glu |
Missense |
6/9 |
- |
1-45808863-G-A |
TOE1 |
c.1022G>A |
p.Arg341His |
Missense |
8/8 |
- |
6-129980436-T-C |
ARHGAP18 |
c.114-17273A>G |
- |
IntronicSNV |
- |
1/14 |
X-51640144-C-T |
MAGED1 |
c.1393C>T |
p.Pro465Ser |
Missense |
4/13 |
- |
X-51640144-C-G |
MAGED1 |
c.1393C>G |
p.Pro465Ala |
Missense |
4/13 |
- |
19-38876352-G-A |
GGN |
c.1550C>T |
p.Ala517Val |
Missense |
3/4 |
- |
10-6255624-G-A |
PFKFB3 |
c.115G>A |
p.Val39Ile |
Missense |
2/15 |
- |
17-39520119-C-T |
KRT33B |
c.1184G>A |
p.Arg395His |
Missense |
7/7 |
- |
13-32913077-G-A |
BRCA2 |
c.4585G>A |
p.Gly1529Arg |
Missense |
11/27 |
- |
8-2795835-T-C |
CSMD1 |
c.*272A>G |
- |
3-UTRSNV |
70/70 |
- |
13-32907129-T-C |
BRCA2 |
c.1514T>C |
p.Ile505Thr |
Missense |
10/27 |
- |
17-41245090-T-C |
BRCA1 |
c.2458A>G |
p.Lys820Glu |
Missense |
10/23 |
- |
1-95363001-T-C |
CNN3 |
c.*297A>G |
- |
3-UTRSNV |
7/7 |
- |
19-36340009-G-A |
NPHS1 |
c.881C>T |
p.Thr294Ile |
Missense |
8/29 |
- |
19-17534560-C-A |
MVB12A |
c.592C>A |
p.Arg198Arg |
Synonymous |
6/9 |
- |
3-113503269-C-T |
ATP6V1A |
c.410C>T |
p.Pro137Leu |
Missense |
4/15 |
- |
22-29628260-C-G |
EMID1 |
c.692C>G |
p.Pro231Arg |
Missense |
8/15 |
- |
14-51084235-T-C |
ATL1 |
c.862+3006T>C |
- |
IntronicSNV |
- |
9/13 |
14-51084235-T-A |
ATL1 |
c.862+3006T>A |
- |
IntronicSNV |
- |
9/13 |
1-203769532-G-A |
ZBED6 |
c.2882G>A |
p.Ser961Asn |
Missense |
1/1 |
- |
7-81714211-T-C |
CACNA2D1 |
c.532A>G |
p.Ile178Val |
Missense |
7/39 |
- |
21-44270229-C-T |
WDR4 |
c.1166G>A |
p.Arg389Gln |
Missense |
11/11 |
- |
17-7846713-G-A |
CNTROB |
c.1316G>A |
p.Arg439Gln |
Missense |
10/19 |
- |
2-86276315-T-C |
POLR1A |
c.2443A>G |
p.Ile815Val |
Missense |
17/34 |
- |
5-56155672-A-C |
MAP3K1 |
c.764A>C |
p.Asn255Thr |
Missense |
3/20 |
- |
17-61897716-C-G |
FTSJ3 |
c.2155G>C |
p.Val719Leu |
Missense |
19/21 |
- |
5-56155672-A-G |
MAP3K1 |
c.764A>G |
p.Asn255Ser |
Missense |
3/20 |
- |
2-1520676-T-C |
TPO |
c.2540T>C |
p.Val847Ala |
Missense |
15/17 |
- |
11-108159732-C-T |
ATM |
c.4138C>T |
p.His1380Tyr |
Missense |
28/63 |
- |
13-32914712-C-A |
BRCA2 |
c.6220C>A |
p.His2074Asn |
Missense |
11/27 |
- |
4-90856383-G-A |
MMRN1 |
c.1552G>A |
p.Glu518Lys |
Missense |
6/8 |
- |
6-151673413-G-T |
AKAP12 |
c.3887G>T |
p.Arg1296Leu |
Missense |
4/5 |
- |
2-10262920-T-C |
RRM2 |
c.1-6T>C |
- |
5-UTRSNV |
1/10 |
- |
2-202122995-A-G |
CASP8 |
c.1-8215A>G |
- |
IntronicSNV |
- |
2/9 |
11-65660600-G-T |
FOSL1 |
c.573C>A |
p.Ser191Arg |
Missense |
4/4 |
- |
13-32914712-C-T |
BRCA2 |
c.6220C>T |
p.His2074Tyr |
Missense |
11/27 |
- |
11-6898714-C-A |
OR10A4 |
c.836C>A |
p.Ser279Tyr |
Missense |
1/1 |
- |
19-42383351-G-A |
CD79A |
c.371G>A |
p.Arg124His |
Missense |
2/5 |
- |
6-41118000-A-G |
TREML1 |
c.620T>C |
p.Met207Thr |
Missense |
5/6 |
- |
11-113629371-G-A |
ZW10 |
c.638C>T |
p.Ser213Leu |
Missense |
6/16 |
- |
20-60587876-C-T |
TAF4 |
c.1636G>A |
p.Val546Ile |
Missense |
3/15 |
- |
6-151673413-G-C |
AKAP12 |
c.3887G>C |
p.Arg1296Pro |
Missense |
4/5 |
- |
6-151673413-G-A |
AKAP12 |
c.3887G>A |
p.Arg1296Gln |
Missense |
4/5 |
- |
11-65647737-G-A |
CTSW |
c.152G>A |
p.Arg51Gln |
Missense |
2/10 |
- |
11-66082428-G-T |
CD248 |
c.2071C>A |
p.Leu691Ile |
Missense |
1/1 |
- |
17-39974440-C-T |
FKBP10 |
c.491C>T |
p.Pro164Leu |
Missense |
3/10 |
- |
17-39974440-C-A |
FKBP10 |
c.491C>A |
p.Pro164Gln |
Missense |
3/10 |
- |
17-39974440-C-G |
FKBP10 |
c.491C>G |
p.Pro164Arg |
Missense |
3/10 |
- |
11-102398329-C-T |
MMP7 |
c.410G>A |
p.Gly137Asp |
Missense |
3/6 |
- |
11-66082428-G-A |
CD248 |
c.2071C>T |
p.Leu691Phe |
Missense |
1/1 |
- |
13-32911547-C-G |
BRCA2 |
c.3055C>G |
p.Leu1019Val |
Missense |
11/27 |
- |
11-65825525-A-C |
SF3B2 |
c.778A>C |
p.Met260Leu |
Missense |
8/22 |
- |
16-31391887-C-T |
ITGAX |
c.3218C>T |
p.Thr1073Met |
Missense |
28/30 |
- |
19-55897956-G-A |
RPL28 |
c.100G>A |
p.Ala34Thr |
Missense |
3/5 |
- |
19-44669960-T-C |
ZNF226 |
c.-47T>C |
- |
splice_region_variant,5_prime_UTR_variant |
2/6 |
- |
5-16701796-A-T |
MYO10 |
c.2708T>A |
p.Met903Lys |
Missense |
25/41 |
- |
5-35065328-C-G |
PRLR |
c.1732G>C |
p.Glu578Gln |
Missense |
10/10 |
- |
5-16701796-A-G |
MYO10 |
c.2708T>C |
p.Met903Thr |
Missense |
25/41 |
- |
13-32912582-A-C |
BRCA2 |
c.4090A>C |
p.Ile1364Leu |
Missense |
11/27 |
- |
7-151407801-G-A |
PRKAG2 |
c.467-35078C>T |
- |
IntronicSNV |
- |
3/15 |
14-53348001-T-C |
FERMT2 |
c.713A>G |
p.Lys238Arg |
Missense |
5/15 |
- |
17-46847364-C-A |
TTLL6 |
c.1215G>T |
p.Glu405Asp |
Missense |
7/9 |
- |
5-131924481-G-A |
RAD50 |
c.1154G>A |
p.Arg385His |
Missense |
8/25 |
- |
5-158139228-C-G |
EBF1 |
c.1483G>C |
p.Ala495Pro |
Missense |
14/16 |
- |
1-153934820-C-A |
SLC39A1 |
c.194G>T |
p.Arg65Leu |
Missense |
4/5 |
- |
6-136683828-A-G |
MAP7 |
c.1286T>C |
p.Met429Thr |
Missense |
11/18 |
- |
17-53045947-G-A |
COX11 |
c.61C>T |
p.His21Tyr |
Missense |
1/4 |
- |
12-49255829-A-C |
RND1 |
c.281T>G |
p.Ile94Ser |
Missense |
3/5 |
- |
12-9020509-C-G |
A2ML1 |
c.3789C>G |
p.Asn1263Lys |
Missense |
30/36 |
- |
19-44571300-G-A |
ZNF223 |
c.1319G>A |
p.Arg440Gln |
Missense |
5/5 |
- |
21-43524050-C-G |
UMODL1 |
c.1372C>G |
p.Leu458Val |
Missense |
9/23 |
- |
13-32915313-G-A |
BRCA2 |
c.6821G>A |
p.Gly2274Glu |
Missense |
11/27 |
- |
17-10429123-G-A |
MYH2 |
c.4258C>T |
p.Leu1420Phe |
Missense |
31/40 |
- |
6-31557696-C-T |
NCR3 |
c.251G>A |
p.Arg84His |
Missense |
2/4 |
- |
1-34238283-T-C |
CSMD2 |
c.1613A>G |
p.His538Arg |
Missense |
13/70 |
- |
19-44669960-T-A |
ZNF226 |
c.-47T>A |
- |
splice_region_variant,5_prime_UTR_variant |
2/6 |
- |
10-22607901-C-T |
COMMD3-BMI1 |
c.364C>T |
p.His122Tyr |
Missense |
5/14 |
- |
12-112168009-G-A |
ACAD10 |
c.1394+249G>A |
- |
IntronicSNV |
- |
10/20 |
6-32150086-C-G |
AGER |
c.902G>C |
p.Cys301Ser |
Missense |
8/11 |
- |
15-64792042-G-T |
ZNF609 |
c.424G>T |
p.Gly142Cys |
Missense |
2/10 |
- |
11-65767578-G-C |
EIF1AD |
c.142C>G |
p.Arg48Gly |
Missense |
3/6 |
- |
11-65767578-G-A |
EIF1AD |
c.142C>T |
p.Arg48Cys |
Missense |
3/6 |
- |
8-23225732-G-C |
LOXL2 |
c.133C>G |
p.His45Asp |
Missense |
2/14 |
- |
5-131925354-A-G |
RAD50 |
c.1277A>G |
p.Gln426Arg |
Missense |
9/25 |
- |
6-167343141-G-T |
RNASET2 |
c.706C>A |
p.Arg236Arg |
Synonymous |
9/9 |
- |
21-16337963-T-A |
NRIP1 |
c.2551A>T |
p.Asn851Tyr |
Missense |
4/4 |
- |
21-16337963-T-G |
NRIP1 |
c.2551A>C |
p.Asn851His |
Missense |
4/4 |
- |
6-167343141-G-A |
RNASET2 |
c.706C>T |
p.Arg236Trp |
Missense |
9/9 |
- |
20-61491494-T-C |
TCFL5 |
c.814A>G |
p.Asn272Asp |
Missense |
2/6 |
- |
5-44305104-T-G |
FGF10 |
c.620A>C |
p.His207Pro |
Missense |
3/3 |
- |
5-44305104-T-C |
FGF10 |
c.620A>G |
p.His207Arg |
Missense |
3/3 |
- |
1-114380886-T-C |
PTPN22 |
c.1136A>G |
p.Asp379Gly |
Missense |
13/21 |
- |
2-113539232-G-T |
IL1A |
c.268C>A |
p.Gln90Lys |
Missense |
4/7 |
- |
22-50555686-A-C |
MOV10L1 |
c.1360A>C |
p.Ile454Leu |
Missense |
9/27 |
- |
5-9041935-G-A |
SEMA5A |
c.*1074C>T |
- |
3-UTRSNV |
23/23 |
- |
13-32914592-C-T |
BRCA2 |
c.6100C>T |
p.Arg2034Cys |
Missense |
11/27 |
- |
10-25312895-C-A |
THNSL1 |
c.743C>A |
p.Ala248Glu |
Missense |
3/3 |
- |
11-108175463-A-T |
ATM |
c.5558A>T |
p.Asp1853Val |
Missense |
37/63 |
- |
1-229594003-C-T |
NUP133 |
c.2885G>A |
p.Arg962His |
Missense |
21/26 |
- |
17-42335888-G-C |
SLC4A1 |
c.980C>G |
p.Pro327Arg |
Missense |
10/20 |
- |
17-42335888-G-A |
SLC4A1 |
c.980C>T |
p.Pro327Leu |
Missense |
10/20 |
- |
19-1223125-C-G |
STK11 |
c.1062C>G |
p.Phe354Leu |
Missense |
8/10 |
- |
4-95514609-A-C |
PDLIM5 |
c.593+7014A>C |
- |
IntronicSNV |
- |
7/12 |
7-151874581-G-C |
KMT2C |
c.7957C>G |
p.Leu2653Val |
Missense |
38/59 |
- |
4-74308089-A-C |
AFP |
c.559A>C |
p.Lys187Gln |
Missense |
5/15 |
- |
6-152615118-A-G |
SYNE1 |
c.17827T>C |
p.Ser5943Pro |
Missense |
94/146 |
- |
1-155223469-G-A |
FAM189B |
c.568C>T |
p.Leu190Phe |
Missense |
5/12 |
- |
17-59885856-T-G |
BRIP1 |
c.890A>C |
p.Lys297Thr |
Missense |
7/20 |
- |
17-59885856-T-C |
BRIP1 |
c.890A>G |
p.Lys297Arg |
Missense |
7/20 |
- |
11-65487769-G-A |
RNASEH2C |
c.292C>T |
p.Pro98Ser |
Missense |
2/4 |
- |
11-65487769-G-C |
RNASEH2C |
c.292C>G |
p.Pro98Ala |
Missense |
2/4 |
- |
12-53702081-C-T |
AAAS |
c.1135G>A |
p.Ala379Thr |
Missense |
12/15 |
- |
13-32914592-C-A |
BRCA2 |
c.6100C>A |
p.Arg2034Ser |
Missense |
11/27 |
- |
21-46032087-G-A |
TSPEAR |
c.83-44198C>T |
- |
IntronicSNV |
- |
1/11 |
1-229594003-C-G |
NUP133 |
c.2885G>C |
p.Arg962Pro |
Missense |
21/26 |
- |
11-65733236-G-A |
SART1 |
c.724G>A |
p.Gly242Arg |
Missense |
6/20 |
- |
17-42335888-G-T |
SLC4A1 |
c.980C>A |
p.Pro327His |
Missense |
10/20 |
- |
11-66033430-C-T |
KLC2 |
c.1549C>T |
p.Pro517Ser |
Missense |
13/16 |
- |
6-152615118-A-T |
SYNE1 |
c.17827T>A |
p.Ser5943Thr |
Missense |
94/146 |
- |
19-45281406-CC-AA |
CBLC |
c.218_219delCCinsAA |
p.Pro73Gln |
Missense |
1/11 |
- |
16-53682940-C-T |
RPGRIP1L |
c.2240G>A |
p.Arg747Gln |
Missense |
16/27 |
- |
16-81030993-G-A |
CMC2 |
c.7C>T |
p.Pro3Ser |
Missense |
2/4 |
- |
3-195594494-C-T |
TNK2 |
c.2630G>A |
p.Arg877His |
Missense |
12/15 |
- |
16-23647238-G-A |
PALB2 |
c.629C>T |
p.Pro210Leu |
Missense |
4/13 |
- |
10-69672479-G-A |
SIRT1 |
c.1606G>A |
p.Glu536Lys |
Missense |
8/9 |
- |
12-53700853-G-A |
C12orf10 |
c.1051G>A |
p.Gly351Ser |
Missense |
7/7 |
- |
19-44006342-C-T |
PHLDB3 |
c.307G>A |
p.Gly103Arg |
Missense |
3/16 |
- |
19-41850682-C-T |
TGFB1 |
c.604G>A |
p.Gly202Arg |
Missense |
3/7 |
- |
12-96260923-G-T |
CCDC38 |
c.1623C>A |
p.Asn541Lys |
Missense |
16/16 |
- |
9-123874803-G-A |
CNTRL |
c.1069G>A |
p.Ala357Thr |
Missense |
7/42 |
- |
12-96260923-G-A |
CCDC38 |
c.1623C>T |
p.Asn541Asn |
Synonymous |
16/16 |
- |
6-34512195-G-T |
SPDEF |
c.38C>A |
p.Pro13His |
Missense |
2/6 |
- |
14-92278829-A-G |
TC2N |
c.128T>C |
p.Val43Ala |
Missense |
3/12 |
- |
14-57749700-A-C |
AP5M1 |
c.1137A>C |
p.Glu379Asp |
Missense |
5/8 |
- |
12-49726851-T-A |
C1QL4 |
c.703A>T |
p.Ile235Phe |
Missense |
2/2 |
- |
10-13155726-T-C |
OPTN |
c.552+1091T>C |
- |
IntronicSNV |
- |
4/13 |
8-19362732-G-A |
CSGALNACT1 |
c.614C>T |
p.Thr205Met |
Missense |
4/10 |
- |
8-19362732-G-C |
CSGALNACT1 |
c.614C>G |
p.Thr205Arg |
Missense |
4/10 |
- |
22-43010817-G-T |
POLDIP3 |
c.47C>A |
p.Ala16Glu |
Missense |
1/9 |
- |
7-100634506-C-A |
MUC12 |
c.662C>A |
p.Ser221Tyr |
Missense |
2/12 |
- |
3-113165480-T-G |
SPICE1 |
c.2470A>C |
p.Thr824Pro |
Missense |
17/18 |
- |
2-201764172-G-A |
NIF3L1 |
c.849G>A |
p.Glu283Glu |
Synonymous |
6/7 |
- |
16-77822722-C-T |
VAT1L |
c.143C>T |
p.Ala48Val |
Missense |
1/9 |
- |
14-60591199-A-G |
PCNX4 |
c.1608A>G |
p.Gln536Gln |
Synonymous |
8/10 |
- |
1-247769412-C-A |
OR2G3 |
c.525C>A |
p.Asp175Glu |
Missense |
1/1 |
- |
16-1260481-T-C |
CACNA1H |
c.3957T>C |
p.Asp1319Asp |
Synonymous |
19/34 |
- |
1-156700651-T-G |
RRNAD1 |
c.112-1132T>G |
- |
IntronicSNV |
- |
1/7 |
1-118441771-G-A |
GDAP2 |
c.704C>T |
p.Pro235Leu |
Missense |
7/14 |
- |
11-111156719-T-G |
C11orf53 |
c.807T>G |
- |
synonymous_variant |
5/5 |
- |
2-196866420-C-T |
DNAH7 |
c.1152G>A |
p.Thr384Thr |
Synonymous |
11/65 |
- |
14-69257119-G-T |
ZFP36L1 |
c.148C>A |
p.Pro50Thr |
Missense |
2/3 |
- |
22-24761467-G-A |
SPECC1L |
c.2851G>A |
p.Val951Met |
Missense |
13/17 |
- |
13-32972852-C-T |
BRCA2 |
c.10202C>T |
p.Thr3401Met |
Missense |
27/27 |
- |
13-32914839-A-G |
BRCA2 |
c.6347A>G |
p.His2116Arg |
Missense |
11/27 |
- |
16-1536455-C-T |
PTX4 |
c.907G>A |
p.Gly303Ser |
Missense |
3/3 |
- |
8-23423697-G-A |
SLC25A37 |
c.287G>A |
p.Arg96Gln |
Missense |
2/4 |
- |
7-97482484-G-A |
ASNS |
c.1364C>T |
p.Ser455Phe |
Missense |
12/13 |
- |
14-25101589-G-C |
GZMB |
c.280C>G |
p.Pro94Ala |
Missense |
3/5 |
- |
17-7577577-T-C |
TP53 |
c.704A>G |
p.Asn235Ser |
Missense |
7/11 |
- |
7-100634667-C-G |
MUC12 |
c.823C>G |
p.Pro275Ala |
Missense |
2/12 |
- |
15-51569410-A-T |
CYP19A1 |
c.1-34301T>A |
- |
IntronicSNV |
- |
1/9 |
22-43010817-G-A |
POLDIP3 |
c.47C>T |
p.Ala16Val |
Missense |
1/9 |
- |
11-108192118-G-T |
ATM |
c.6543G>T |
p.Glu2181Asp |
Missense |
45/63 |
- |
11-65360925-G-T |
KCNK7 |
c.740C>A |
p.Ala247Glu |
Missense |
2/2 |
- |
20-61391977-G-T |
NTSR1 |
c.*358G>T |
- |
3-UTRSNV |
4/4 |
- |
2-99520608-T-C |
KIAA1211L |
c.-11+31793A>G |
- |
intron_variant |
- |
1/9 |
2-85549868-A-G |
TGOLN2 |
c.1309-4T>C |
- |
IntronicSNV |
- |
3/3 |
19-51462454-G-T |
KLK6 |
c.701C>A |
p.Thr234Lys |
Missense |
7/7 |
- |
12-53579178-G-A |
ZNF740 |
c.167G>A |
p.Arg56Gln |
Missense |
4/7 |
- |
6-152443753-G-A |
SYNE1 |
c.26212C>T |
p.Arg8738Cys |
Missense |
146/146 |
- |
1-159842779-C-T |
CFAP45 |
c.1532G>A |
p.Arg511His |
Missense |
11/12 |
- |
4-74702951-C-A |
CXCL6 |
c.274C>A |
p.Leu92Met |
Missense |
3/4 |
- |
13-32914839-A-T |
BRCA2 |
c.6347A>T |
p.His2116Leu |
Missense |
11/27 |
- |
8-23423697-G-T |
SLC25A37 |
c.287G>T |
p.Arg96Leu |
Missense |
2/4 |
- |
1-155103842-T-G |
EFNA1 |
c.120T>G |
p.His40Gln |
Missense |
2/5 |
- |
1-155103842-T-C |
EFNA1 |
c.120T>C |
p.His40His |
Synonymous |
2/5 |
- |
1-68905294-G-A |
RPE65 |
c.675C>T |
p.Ile225Ile |
Synonymous |
7/14 |
- |
17-41244246-C-T |
BRCA1 |
c.3302G>A |
p.Ser1101Asn |
Missense |
10/23 |
- |
17-47039132-T-C |
GIP |
c.307A>G |
p.Ser103Gly |
Missense |
4/6 |
- |
6-41129133-C-T |
TREM2 |
c.259G>A |
p.Asp87Asn |
Missense |
2/5 |
- |
1-26582091-G-A |
CEP85 |
c.638G>A |
p.Ser213Asn |
Missense |
4/14 |
- |
16-58577467-C-G |
CNOT1 |
c.4434+44G>C |
- |
IntronicSNV |
- |
31/48 |
2-174224215-G-C |
CDCA7 |
c.380G>C |
p.Gly127Ala |
Missense |
3/10 |
- |
22-41077895-C-T |
MCHR1 |
c.1232C>T |
p.Thr411Met |
Missense |
2/2 |
- |
22-41077895-C-A |
MCHR1 |
c.1232C>A |
p.Thr411Lys |
Missense |
2/2 |
- |
20-62838958-G-A |
MYT1 |
c.409G>A |
p.Val137Ile |
Missense |
7/23 |
- |
6-1390433-G-A |
FOXF2 |
c.251G>A |
p.Gly84Glu |
Missense |
1/2 |
- |
17-59876546-G-A |
BRIP1 |
c.1255C>T |
p.Arg419Trp |
Missense |
9/20 |
- |
17-41245027-G-A |
BRCA1 |
c.2521C>T |
p.Arg841Trp |
Missense |
10/23 |
- |
12-49719584-C-G |
TROAP |
c.550C>G |
p.Pro184Ala |
Missense |
5/15 |
- |
3-127646773-C-T |
KBTBD12 |
c.1237C>T |
p.Arg413Trp |
Missense |
3/6 |
- |
20-62226971-G-A |
GMEB2 |
c.611C>T |
p.Ala204Val |
Missense |
6/10 |
- |
2-85981389-T-C |
ATOH8 |
c.77T>C |
p.Leu26Pro |
Missense |
1/3 |
- |
9-134385436-A-G |
POMT1 |
c.752A>G |
p.Gln251Arg |
Missense |
8/20 |
- |
20-40783392-A-G |
PTPRT |
c.2682+6600T>C |
- |
IntronicSNV |
- |
17/30 |
19-57723007-G-C |
ZNF264 |
c.542G>C |
p.Arg181Thr |
Missense |
4/4 |
- |
11-65810612-G-T |
GAL3ST3 |
c.662C>A |
p.Ala221Asp |
Missense |
3/3 |
- |
11-1081112-G-C |
MUC2 |
c.1408G>C |
p.Glu470Gln |
Missense |
11/51 |
- |
6-31322905-T-C |
HLA-B |
c.991A>G |
p.Met331Val |
Missense |
5/8 |
- |
12-42481732-G-A |
GXYLT1 |
c.1179C>T |
p.Asp393Asp |
Synonymous |
8/8 |
- |
10-55721531-T-C |
PCDH15 |
c.2990A>G |
p.Glu997Gly |
Missense |
22/33 |
- |
20-62328428-G-T |
TNFRSF6B |
c.308G>T |
p.Arg103Leu |
Missense |
1/3 |
- |
19-17394361-G-A |
ANKLE1 |
c.950G>A |
p.Arg317Lys |
Missense |
5/9 |
- |
5-131911535-A-T |
RAD50 |
c.280A>T |
p.Ile94Leu |
Missense |
3/25 |
- |
16-9858173-G-C |
GRIN2A |
c.3228C>G |
p.Asn1076Lys |
Missense |
14/14 |
- |
17-59876546-G-C |
BRIP1 |
c.1255C>G |
p.Arg419Gly |
Missense |
9/20 |
- |
19-44777862-G-A |
ZNF233 |
c.1049G>A |
p.Ser350Asn |
Missense |
5/5 |
- |
12-50152192-C-T |
TMBIM6 |
c.362C>T |
p.Thr121Met |
Missense |
6/10 |
- |
7-122635349-T-C |
TAS2R16 |
c.340A>G |
p.Ile114Val |
Missense |
1/1 |
- |
16-847033-C-T |
CHTF18 |
c.2674C>T |
p.Pro892Ser |
Missense |
20/22 |
- |
1-68905294-G-C |
RPE65 |
c.675C>G |
p.Ile225Met |
Missense |
7/14 |
- |
8-16032804-T-C |
MSR1 |
c.109A>G |
p.Lys37Glu |
Missense |
3/9 |
- |
7-82785304-G-A |
PCLO |
c.653C>T |
p.Pro218Leu |
Missense |
2/20 |
- |
11-108155132-G-A |
ATM |
c.3925G>A |
p.Ala1309Thr |
Missense |
26/63 |
- |
8-76452313-G-A |
HNF4G |
c.116G>A |
- |
missense_variant,splice_region_variant |
1/10 |
- |
8-61654847-A-G |
CHD7 |
c.856A>G |
p.Arg286Gly |
Missense |
2/38 |
- |
13-32913173-C-A |
BRCA2 |
c.4681C>A |
p.His1561Asn |
Missense |
11/27 |
- |
7-97933515-G-A |
BAIAP2L1 |
c.1415C>T |
p.Ala472Val |
Missense |
12/14 |
- |
7-99695787-T-C |
MCM7 |
c.319A>G |
p.Thr107Ala |
Missense |
6/14 |
- |
16-69727480-A-G |
NFAT5 |
c.3470A>G |
p.Gln1157Arg |
Missense |
14/16 |
- |
10-100017453-T-G |
LOXL4 |
c.1214A>C |
p.Asp405Ala |
Missense |
8/15 |
- |
17-72758167-G-A |
SLC9A3R1 |
c.458G>A |
p.Arg153Gln |
Missense |
2/6 |
- |
22-23482658-C-T |
RSPH14 |
c.1-51G>A |
- |
5-UTRSNV |
2/7 |
- |
2-29497967-G-A |
ALK |
c.2039C>T |
p.Thr680Ile |
Missense |
11/29 |
- |
1-204170801-C-T |
GOLT1A |
c.256G>A |
p.Gly86Ser |
Missense |
3/5 |
- |
11-34655363-A-G |
EHF |
c.1-8815A>G |
- |
IntronicSNV |
- |
1/8 |
3-14180693-G-C |
TMEM43 |
c.896G>C |
p.Arg299Thr |
Missense |
11/12 |
- |
3-141328343-A-T |
RASA2 |
c.2307A>T |
p.Leu769Phe |
Missense |
22/24 |
- |
11-108124738-A-G |
ATM |
c.2096A>G |
p.Glu699Gly |
Missense |
13/63 |
- |
20-60988576-G-C |
RBBP8NL |
c.1556C>G |
p.Ser519Cys |
Missense |
11/14 |
- |
12-53586685-C-T |
ITGB7 |
c.1736G>A |
p.Arg579His |
Missense |
13/16 |
- |
3-113275624-A-C |
SIDT1 |
c.223-9643A>C |
- |
IntronicSNV |
- |
1/24 |
3-113275624-A-T |
SIDT1 |
c.223-9643A>T |
- |
IntronicSNV |
- |
1/24 |
1-145562149-C-T |
ANKRD35 |
c.1837C>T |
p.Leu613Leu |
Synonymous |
10/14 |
- |
11-55945018-C-T |
OR5J2 |
c.925C>T |
p.His309Tyr |
Missense |
1/1 |
- |
6-14131902-C-T |
CD83 |
c.305C>T |
p.Ser102Leu |
Missense |
3/5 |
- |
4-113352745-G-A |
ALPK1 |
c.2042G>A |
p.Gly681Asp |
Missense |
11/16 |
- |
11-108235879-C-T |
ATM |
c.8921C>T |
p.Pro2974Leu |
Missense |
62/63 |
- |
16-80650805-A-G |
CDYL2 |
c.1007+3855T>C |
- |
IntronicSNV |
- |
4/6 |
17-12905790-T-C |
ELAC2 |
c.1066A>G |
p.Ile356Val |
Missense |
12/23 |
- |
17-12905790-T-A |
ELAC2 |
c.1066A>T |
p.Ile356Phe |
Missense |
12/23 |
- |
8-16026115-G-A |
MSR1 |
c.482C>T |
p.Thr161Ile |
Missense |
4/9 |
- |
X-37027276-A-G |
FAM47C |
c.793A>G |
p.Thr265Ala |
Missense |
1/1 |
- |
5-136608159-A-C |
SPOCK1 |
c.187-5415T>G |
- |
IntronicSNV |
- |
2/10 |
1-201052310-A-T |
CACNA1S |
c.1373T>A |
p.Leu458His |
Missense |
10/44 |
- |
4-2695585-C-T |
FAM193A |
c.2203C>T |
p.Pro735Ser |
Missense |
14/19 |
- |
19-3624005-G-T |
CACTIN |
c.323C>A |
p.Ser108* |
Nonsense |
2/10 |
- |
19-3624005-G-C |
CACTIN |
c.323C>G |
p.Ser108Trp |
Missense |
2/10 |
- |
11-34655363-A-T |
EHF |
c.1-8815A>T |
- |
IntronicSNV |
- |
1/8 |
1-155226571-G-C |
SCAMP3 |
c.791C>G |
p.Ser264Cys |
Missense |
8/9 |
- |
12-53433486-C-T |
EIF4B |
c.1755C>T |
p.Ser585Ser |
Synonymous |
14/15 |
- |
8-16026243-C-T |
MSR1 |
c.354G>A |
p.Met118Ile |
Missense |
4/9 |
- |
10-22680787-A-G |
SPAG6 |
c.1060A>G |
p.Thr354Ala |
Missense |
11/14 |
- |
12-52824425-C-T |
KRT75 |
c.935G>A |
p.Arg312His |
Missense |
5/9 |
- |
5-1294166-C-T |
TERT |
c.835G>A |
p.Ala279Thr |
Missense |
2/15 |
- |
17-41244526-T-C |
BRCA1 |
c.3022A>G |
p.Met1008Val |
Missense |
10/23 |
- |
17-41244526-T-G |
BRCA1 |
c.3022A>C |
p.Met1008Leu |
Missense |
10/23 |
- |
10-123346116-G-A |
FGFR2 |
c.109+7107C>T |
- |
IntronicSNV |
- |
2/17 |
7-143807304-T-C |
OR2A2 |
c.629T>C |
p.Leu210Pro |
Missense |
1/1 |
- |
5-169680139-G-A |
LCP2 |
c.1229C>T |
p.Ser410Phe |
Missense |
18/21 |
- |
19-45296806-C-T |
CBLC |
c.1213C>T |
p.His405Tyr |
Missense |
8/11 |
- |
19-45296806-C-G |
CBLC |
c.1213C>G |
p.His405Asp |
Missense |
8/11 |
- |
5-1463932-G-A |
LPCAT1 |
c.1439C>T |
p.Ala480Val |
Missense |
14/14 |
- |
12-113565637-G-A |
RASAL1 |
c.278C>T |
p.Ala93Val |
Missense |
5/22 |
- |
17-12901781-A-C |
ELAC2 |
c.1348T>G |
p.Ser450Ala |
Missense |
15/23 |
- |
15-89803950-C-T |
FANCI |
c.164C>T |
p.Pro55Leu |
Missense |
4/37 |
- |
20-33872215-C-A |
EIF6 |
c.76G>T |
p.Val26Leu |
Missense |
2/7 |
- |
12-14664250-A-G |
PLBD1 |
c.1130T>C |
p.Val377Ala |
Missense |
8/11 |
- |
17-12901781-A-T |
ELAC2 |
c.1348T>A |
p.Ser450Thr |
Missense |
15/23 |
- |
16-23619278-C-T |
PALB2 |
c.3257G>A |
p.Arg1086Gln |
Missense |
12/13 |
- |
1-169521853-A-G |
F5 |
c.1238T>C |
p.Met413Thr |
Missense |
8/25 |
- |
11-6661352-C-T |
DCHS1 |
c.1493G>A |
p.Arg498Gln |
Missense |
2/21 |
- |
2-208842154-G-A |
PLEKHM3 |
c.767C>T |
p.Thr256Met |
Missense |
3/8 |
- |
3-179162316-C-A |
GNB4 |
c.-43+6818G>T |
- |
intron_variant |
- |
1/9 |
6-4074822-C-T |
FAM217A |
c.134G>A |
p.Gly45Glu |
Missense |
3/7 |
- |
6-4074822-C-A |
FAM217A |
c.134G>T |
p.Gly45Val |
Missense |
3/7 |
- |
17-46804358-G-A |
HOXB13 |
c.649C>T |
p.Arg217Cys |
Missense |
2/2 |
- |
11-6661352-C-A |
DCHS1 |
c.1493G>T |
p.Arg498Leu |
Missense |
2/21 |
- |
5-131939072-G-A |
RAD50 |
c.2288G>A |
p.Arg763His |
Missense |
14/25 |
- |
18-24570667-T-G |
CHST9 |
c.202+33413A>C |
- |
IntronicSNV |
- |
4/5 |
11-108115600-CGA-TGG |
ATM |
c.748_750delCGAinsTGG |
p.Arg250Trp |
Missense |
7/63 |
- |
9-131762080-A-G |
NUP188 |
c.3839A>G |
p.Asp1280Gly |
Missense |
34/44 |
- |
11-2181191-C-A |
INS |
c.224G>T |
p.Gly75Val |
Missense |
3/3 |
- |
1-216373416-A-C |
USH2A |
c.3364T>G |
p.Ser1122Ala |
Missense |
17/21 |
- |
18-43307246-C-T |
SLC14A1 |
c.-22+2268C>T |
- |
intron_variant |
- |
2/9 |
7-123152019-C-T |
IQUB |
c.376G>A |
p.Val126Met |
Missense |
2/13 |
- |
14-74759006-C-T |
ABCD4 |
c.1102G>A |
p.Glu368Lys |
Missense |
11/19 |
- |
17-47436749-G-A |
ZNF652 |
c.-259+3026C>T |
- |
intron_variant |
- |
1/5 |
6-13595765-A-C |
SIRT5 |
c.532A>C |
p.Ser178Arg |
Missense |
6/9 |
- |
15-89821993-AG-CC |
FANCI |
c.1369_1370delAGinsCC |
p.Ser457Pro |
Missense |
14/37 |
- |
3-102157417-A-G |
ZPLD1 |
c.134A>G |
p.Asn45Ser |
Missense |
2/11 |
- |
1-183938537-G-A |
COLGALT2 |
c.698C>T |
p.Pro233Leu |
Missense |
5/12 |
- |
6-32159674-G-A |
GPSM3 |
c.157C>T |
p.Arg53Cys |
Missense |
7/8 |
- |
12-50044492-C-T |
FMNL3 |
c.1967G>A |
p.Arg656His |
Missense |
17/26 |
- |
12-50044492-C-G |
FMNL3 |
c.1967G>C |
p.Arg656Pro |
Missense |
17/26 |
- |
5-176011198-A-G |
CDHR2 |
c.2066A>G |
p.Asn689Ser |
Missense |
18/32 |
- |
17-47394825-G-A |
ZNF652 |
c.263C>T |
p.Ser88Phe |
Missense |
2/6 |
- |
17-47394825-G-C |
ZNF652 |
c.263C>G |
p.Ser88Cys |
Missense |
2/6 |
- |
1-70896038-T-G |
CTH |
c.685T>G |
p.Cys229Gly |
Missense |
7/12 |
- |
12-49960215-C-T |
MCRS1 |
c.11-217G>A |
- |
IntronicSNV |
- |
2/14 |
17-12898323-T-A |
ELAC2 |
c.1745A>T |
p.Glu582Val |
Missense |
19/23 |
- |
17-41244429-C-G |
BRCA1 |
c.3119G>C |
p.Ser1040Thr |
Missense |
10/23 |
- |
17-41244429-C-T |
BRCA1 |
c.3119G>A |
p.Ser1040Asn |
Missense |
10/23 |
- |
19-38127024-T-C |
ZFP30 |
c.418A>G |
p.Arg140Gly |
Missense |
6/6 |
- |
2-238443226-A-G |
MLPH |
c.1040A>G |
p.His347Arg |
Missense |
9/16 |
- |
22-43529061-C-T |
MCAT |
c.1161G>A |
p.Glu387Glu |
Synonymous |
4/4 |
- |
22-43529061-C-A |
MCAT |
c.1161G>T |
p.Glu387Asp |
Missense |
4/4 |
- |
13-32953529-A-T |
BRCA2 |
c.8830A>T |
p.Ile2944Phe |
Missense |
22/27 |
- |
17-35872409-C-T |
DUSP14 |
c.35C>T |
p.Thr12Ile |
Missense |
3/3 |
- |
6-31914306-G-A |
CFB |
c.221G>A |
p.Arg74His |
Missense |
2/18 |
- |
2-19553104-T-C |
OSR1 |
c.463A>G |
p.Lys155Glu |
Missense |
2/3 |
- |
16-57188397-G-C |
FAM192A |
c.570C>G |
p.Leu190Leu |
Synonymous |
7/7 |
- |
16-57188397-G-A |
FAM192A |
c.570C>T |
p.Leu190Leu |
Synonymous |
7/7 |
- |
13-32907000-A-G |
BRCA2 |
c.1385A>G |
p.Glu462Gly |
Missense |
10/27 |
- |
19-41628761-A-T |
CYP2F1 |
c.857A>T |
p.Asp286Val |
Missense |
7/10 |
- |
19-41628761-A-G |
CYP2F1 |
c.857A>G |
p.Asp286Gly |
Missense |
7/10 |
- |
12-53509948-G-A |
SOAT2 |
c.776G>A |
p.Arg259Gln |
Missense |
7/15 |
- |
18-51888070-C-G |
C18orf54 |
c.341C>G |
p.Thr114Ser |
Missense |
3/8 |
- |
11-1092388-A-C |
MUC2 |
c.4207A>C |
p.Thr1403Pro |
Missense |
30/51 |
- |
12-121163723-C-T |
ACADS |
c.35C>T |
p.Pro12Leu |
Missense |
1/10 |
- |
6-151688004-G-C |
ZBTB2 |
c.197C>G |
p.Thr66Ser |
Missense |
3/3 |
- |
6-151688004-G-T |
ZBTB2 |
c.197C>A |
p.Thr66Asn |
Missense |
3/3 |
- |
19-17628127-G-A |
PGLS |
c.427G>A |
p.Asp143Asn |
Missense |
3/5 |
- |
2-242109206-C-T |
PPP1R7 |
c.830C>T |
p.Thr277Met |
Missense |
9/10 |
- |
14-53245082-A-C |
GNPNAT1 |
c.502T>G |
p.Phe168Val |
Missense |
6/6 |
- |
4-106158350-A-C |
TET2 |
c.3251A>C |
p.Gln1084Pro |
Missense |
3/3 |
- |
11-108138003-T-C |
ATM |
c.2572T>C |
p.Phe858Leu |
Missense |
17/63 |
- |
6-32816772-C-A |
TAP1 |
c.1552G>T |
p.Val518Leu |
Missense |
6/11 |
- |
6-32816772-C-G |
TAP1 |
c.1552G>C |
p.Val518Leu |
Missense |
6/11 |
- |
12-49375317-C-T |
WNT1 |
c.1007C>T |
p.Thr336Met |
Missense |
4/4 |
- |
16-68056703-G-T |
DDX28 |
c.403C>A |
p.Pro135Thr |
Missense |
1/1 |
- |
2-238494719-T-A |
RAB17 |
c.79A>T |
p.Ser27Cys |
Missense |
2/6 |
- |
19-33467413-C-T |
FAAP24 |
c.473C>T |
p.Ser158Leu |
Missense |
5/5 |
- |
2-21228386-G-C |
APOB |
c.11354C>G |
p.Thr3785Arg |
Missense |
26/29 |
- |
5-56526795-A-C |
GPBP1 |
c.186A>C |
p.Gly62Gly |
Synonymous |
4/12 |
- |
3-39118649-C-T |
WDR48 |
c.917C>T |
p.Ala306Val |
Missense |
9/19 |
- |
3-170198942-C-A |
SLC7A14 |
c.1129G>T |
p.Val377Phe |
Missense |
7/8 |
- |
3-170198942-C-T |
SLC7A14 |
c.1129G>A |
p.Val377Ile |
Missense |
7/8 |
- |
17-59760963-G-T |
BRIP1 |
c.3444C>A |
p.Asp1148Glu |
Missense |
20/20 |
- |
1-182551329-G-T |
RNASEL |
c.1631C>A |
p.Ala544Asp |
Missense |
4/7 |
- |
4-74447930-T-C |
RASSF6 |
c.645A>G |
p.Ile215Met |
Missense |
7/11 |
- |
10-5920195-C-G |
ANKRD16 |
c.984G>C |
p.Gln328His |
Missense |
7/8 |
- |
11-20139768-T-A |
NAV2 |
c.7254T>A |
p.Asp2418Glu |
Missense |
38/38 |
- |
19-18546125-C-T |
ISYNA1 |
c.1423G>A |
p.Val475Met |
Missense |
10/11 |
- |
12-52938320-C-T |
KRT71 |
c.1568G>A |
p.Arg523Gln |
Missense |
9/9 |
- |
19-18546125-C-G |
ISYNA1 |
c.1423G>C |
p.Val475Leu |
Missense |
10/11 |
- |
10-28438930-G-A |
MPP7 |
c.215C>T |
p.Ala72Val |
Missense |
6/19 |
- |
9-113259152-T-G |
SVEP1 |
c.1743A>C |
p.Gln581His |
Missense |
8/48 |
- |
11-65652636-T-C |
FIBP |
c.689A>G |
p.Asp230Gly |
Missense |
6/10 |
- |
X-83723541-A-G |
HDX |
c.1190T>C |
p.Phe397Ser |
Missense |
3/10 |
- |
20-62494241-G-A |
ABHD16B |
c.1348G>A |
p.Val450Met |
Missense |
1/1 |
- |
15-90171613-C-G |
KIF7 |
c.*37G>C |
- |
3-UTRSNV |
19/19 |
- |
2-85769711-C-T |
MAT2A |
c.792C>T |
p.Arg264Arg |
Synonymous |
7/9 |
- |
15-90171613-C-T |
KIF7 |
c.*37G>A |
- |
3-UTRSNV |
19/19 |
- |
2-85769711-C-G |
MAT2A |
c.792C>G |
p.Arg264Arg |
Synonymous |
7/9 |
- |
17-59934481-C-T |
BRIP1 |
c.317G>A |
p.Arg106His |
Missense |
4/20 |
- |
20-32588095-T-C |
RALY |
c.-93+6158T>C |
- |
intron_variant |
- |
1/8 |
19-18724695-G-A |
TMEM59L |
c.185G>A |
p.Gly62Asp |
Missense |
2/8 |
- |
20-32588095-T-G |
RALY |
c.-93+6158T>G |
- |
intron_variant |
- |
1/8 |
11-57428280-T-C |
CLP1 |
c.650T>C |
p.Val217Ala |
Missense |
3/3 |
- |
5-72419402-G-C |
TMEM171 |
c.202G>C |
p.Val68Leu |
Missense |
2/4 |
- |
2-9637331-A-T |
ADAM17 |
c.1695T>A |
p.Thr565Thr |
Synonymous |
14/19 |
- |
2-9637331-A-G |
ADAM17 |
c.1695T>C |
p.Thr565Thr |
Synonymous |
14/19 |
- |
13-32972380-G-T |
BRCA2 |
c.9730G>T |
p.Val3244Phe |
Missense |
27/27 |
- |
1-154458497-C-T |
SHE |
c.1223G>A |
p.Arg408Gln |
Missense |
5/6 |
- |
21-35880072-G-T |
KCNE1 |
c.-162+3327C>A |
- |
intron_variant |
- |
2/3 |
4-84227441-C-A |
HPSE |
c.1121G>T |
p.Arg374Leu |
Missense |
10/13 |
- |
4-84227441-C-T |
HPSE |
c.1121G>A |
p.Arg374Gln |
Missense |
10/13 |
- |
19-17081707-G-A |
CPAMD8 |
c.2207C>T |
- |
missense_variant |
18/42 |
- |
2-238820379-C-T |
RAMP1 |
c.401C>T |
p.Thr134Met |
Missense |
3/3 |
- |
19-45206624-T-C |
CEACAM16 |
c.43T>C |
p.Phe15Leu |
Missense |
3/7 |
- |
14-22133463-A-G |
OR4E2 |
c.167A>G |
p.His56Arg |
Missense |
1/1 |
- |
6-31540556-T-C |
LTA |
c.37T>C |
p.Cys13Arg |
Missense |
2/4 |
- |
11-68853197-G-A |
TPCN2 |
c.1897G>A |
p.Ala633Thr |
Missense |
21/25 |
- |
15-74229065-G-A |
LOXL1 |
c.1103-6130G>A |
- |
IntronicSNV |
- |
1/6 |
5-160042905-T-C |
ATP10B |
c.2593A>G |
p.Asn865Asp |
Missense |
17/26 |
- |
2-238289917-C-T |
COL6A3 |
c.1538G>A |
p.Arg513Gln |
Missense |
5/44 |
- |
20-61477034-G-A |
TCFL5 |
c.1381-3585C>T |
- |
IntronicSNV |
- |
5/5 |
12-49255829-A-G |
RND1 |
c.281T>C |
p.Ile94Thr |
Missense |
3/5 |
- |
22-29130520-C-T |
CHEK2 |
c.190G>A |
p.Glu64Lys |
Missense |
2/16 |
- |
9-32424659-C-A |
ACO1 |
c.1184C>A |
p.Ala395Asp |
Missense |
10/21 |
- |
11-108199832-C-T |
ATM |
c.7174C>T |
p.Arg2392Trp |
Missense |
49/63 |
- |
1-54476084-C-T |
LDLRAD1 |
c.341-1G>A |
- |
IntronicSNV |
- |
4/5 |
17-41246092-A-T |
BRCA1 |
c.1456T>A |
p.Phe486Ile |
Missense |
10/23 |
- |
12-27849666-G-C |
REP15 |
c.171G>C |
p.Glu57Asp |
Missense |
1/1 |
- |
17-41246092-A-G |
BRCA1 |
c.1456T>C |
p.Phe486Leu |
Missense |
10/23 |
- |
13-32912007-C-T |
BRCA2 |
c.3515C>T |
p.Ser1172Leu |
Missense |
11/27 |
- |
1-204159701-G-T |
KISS1 |
c.328C>A |
p.Pro110Thr |
Missense |
3/3 |
- |
3-52830527-A-G |
ITIH3 |
c.145A>G |
p.Lys49Glu |
Missense |
3/22 |
- |
17-41246411-A-C |
BRCA1 |
c.1137T>G |
p.Ile379Met |
Missense |
10/23 |
- |
11-111156719-T-C |
C11orf53 |
c.807T>C |
- |
synonymous_variant |
5/5 |
- |
13-32977099-C-T |
N4BP2L1 |
c.712G>A |
p.Gly238Ser |
Missense |
5/5 |
- |
13-32912007-C-G |
BRCA2 |
c.3515C>G |
p.Ser1172Trp |
Missense |
11/27 |
- |
13-32912007-C-A |
BRCA2 |
c.3515C>A |
p.Ser1172* |
Nonsense |
11/27 |
- |
14-74535660-G-A |
ALDH6A1 |
c.716C>T |
p.Pro239Leu |
Missense |
7/12 |
- |
11-104878019-A-C |
CASP5 |
c.224T>G |
p.Leu75Arg |
Missense |
3/10 |
- |
11-5968728-T-C |
OR56A3 |
c.152T>C |
p.Met51Thr |
Missense |
1/1 |
- |
19-13249098-G-A |
NACC1 |
c.1462G>A |
p.Ala488Thr |
Missense |
6/6 |
- |
4-95562877-C-T |
PDLIM5 |
c.956+1276C>T |
- |
IntronicSNV |
- |
9/12 |
2-113819725-A-G |
IL36RN |
c.140A>G |
p.Asn47Ser |
Missense |
4/5 |
- |
2-113819725-A-T |
IL36RN |
c.140A>T |
p.Asn47Ile |
Missense |
4/5 |
- |
20-62172639-G-A |
SRMS |
c.1190C>T |
p.Ala397Val |
Missense |
7/8 |
- |
5-141029036-G-A |
FCHSD1 |
c.301C>T |
p.Leu101Phe |
Missense |
5/20 |
- |
1-155025945-A-T |
ADAM15 |
c.239A>T |
p.His80Leu |
Missense |
3/21 |
- |
17-59668229-C-G |
NACA2 |
c.313G>C |
p.Val105Leu |
Missense |
1/1 |
- |
12-113603678-G-A |
DDX54 |
c.1574C>T |
p.Ala525Val |
Missense |
13/20 |
- |
12-113603678-G-T |
DDX54 |
c.1574C>A |
p.Ala525Glu |
Missense |
13/20 |
- |
16-53855291-A-T |
FTO |
c.124-4485A>T |
- |
IntronicSNV |
- |
2/8 |
19-17534560-C-T |
MVB12A |
c.592C>T |
p.Arg198Trp |
Missense |
6/9 |
- |
20-37378721-G-A |
ACTR5 |
c.444G>A |
p.Met148Ile |
Missense |
2/9 |
- |
9-18928963-G-A |
SAXO1 |
c.512C>T |
p.Thr171Ile |
Missense |
4/4 |
- |
16-23649446-T-C |
PALB2 |
c.53A>G |
p.Lys18Arg |
Missense |
2/13 |
- |
12-52841075-C-T |
KRT6B |
c.1594G>A |
p.Gly532Ser |
Missense |
9/9 |
- |
1-170965700-G-A |
MROH9 |
c.1390G>A |
p.Val464Met |
Missense |
14/15 |
- |
11-108115601-G-A |
ATM |
c.749G>A |
p.Arg250Gln |
Missense |
7/63 |
- |
6-41250466-T-A |
TREM1 |
c.73A>T |
p.Thr25Ser |
Missense |
2/4 |
- |
3-102157417-A-C |
ZPLD1 |
c.134A>C |
p.Asn45Thr |
Missense |
2/11 |
- |
1-183938537-G-C |
COLGALT2 |
c.698C>G |
p.Pro233Arg |
Missense |
5/12 |
- |
6-117198488-C-A |
RFX6 |
c.50C>A |
p.Ala17Glu |
Missense |
1/19 |
- |
13-32910812-A-G |
BRCA2 |
c.2320A>G |
p.Thr774Ala |
Missense |
11/27 |
- |
11-68701997-A-G |
IGHMBP2 |
c.1603A>G |
p.Ile535Val |
Missense |
11/15 |
- |
17-76497940-C-T |
DNAH17 |
c.5206G>A |
p.Val1736Ile |
Missense |
34/81 |
- |
12-49498284-T-G |
LMBR1L |
c.382A>C |
p.Met128Leu |
Missense |
5/17 |
- |
22-41223206-T-C |
ST13 |
c.875A>G |
p.Asn292Ser |
Missense |
11/12 |
- |
14-69341650-C-A |
ACTN1 |
c.2605G>T |
p.Gly869Cys |
Missense |
21/21 |
- |
14-69341650-C-T |
ACTN1 |
c.2605G>A |
p.Gly869Ser |
Missense |
21/21 |
- |
10-61833684-C-T |
ANK3 |
c.6955G>A |
p.Asp2319Asn |
Missense |
37/44 |
- |
2-239056525-AG-CC |
KLHL30 |
c.1201_1202delAGinsCC |
p.Ser401Pro |
Missense |
6/8 |
- |
17-56389516-C-T |
TSPOAP1 |
c.2666G>A |
p.Arg889Gln |
Missense |
17/32 |
- |
8-55540418-G-C |
RP1 |
c.3976G>C |
p.Ala1326Pro |
Missense |
4/4 |
- |
19-38885397-C-T |
SPRED3 |
c.538C>T |
p.Pro180Ser |
Missense |
4/5 |
- |
6-30711805-C-G |
IER3 |
c.379G>C |
p.Ala127Pro |
Missense |
2/2 |
- |
6-30882513-A-G |
VARS2 |
c.1-101A>G |
- |
IntronicSNV |
- |
1/29 |
19-14083761-T-C |
RFX1 |
c.1108A>G |
p.Thr370Ala |
Missense |
9/21 |
- |
6-160448315-C-G |
IGF2R |
c.745C>G |
p.Arg249Gly |
Missense |
6/48 |
- |
6-160448315-C-T |
IGF2R |
c.745C>T |
p.Arg249Trp |
Missense |
6/48 |
- |
X-37027276-A-T |
FAM47C |
c.793A>T |
p.Thr265Ser |
Missense |
1/1 |
- |
17-62291105-G-A |
TEX2 |
c.473C>T |
p.Thr158Ile |
Missense |
2/12 |
- |
17-62291105-G-C |
TEX2 |
c.473C>G |
p.Thr158Ser |
Missense |
2/12 |
- |
1-230822832-C-G |
COG2 |
c.1532C>G |
p.Thr511Ser |
Missense |
13/18 |
- |
5-140604011-A-T |
PCDHB14 |
c.934A>T |
p.Ile312Leu |
Missense |
1/1 |
- |
1-182554708-G-A |
RNASEL |
c.1234C>T |
p.Arg412* |
Nonsense |
2/7 |
- |
1-182554708-G-C |
RNASEL |
c.1234C>G |
p.Arg412Gly |
Missense |
2/7 |
- |
17-41246812-A-C |
BRCA1 |
c.736T>G |
p.Leu246Val |
Missense |
10/23 |
- |
13-32914196-G-A |
BRCA2 |
c.5704G>A |
p.Asp1902Asn |
Missense |
11/27 |
- |
20-33711831-T-C |
EDEM2 |
c.976A>G |
p.Ile326Val |
Missense |
9/11 |
- |
19-17452053-C-G |
GTPBP3 |
c.1175C>G |
p.Pro392Arg |
Missense |
8/9 |
- |
6-31085286-C-T |
CDSN |
c.106G>A |
p.Gly36Ser |
Missense |
2/2 |
- |
13-32900279-A-T |
BRCA2 |
c.467A>T |
p.Asp156Val |
Missense |
5/27 |
- |
17-15341322-G-A |
TVP23C-CDRT4 |
c.*241C>T |
- |
3_prime_UTR_variant |
7/7 |
- |
2-103066858-A-T |
IL18RAP |
c.1211-450A>T |
- |
IntronicSNV |
- |
10/11 |
2-103066858-A-G |
IL18RAP |
c.1211-450A>G |
- |
IntronicSNV |
- |
10/11 |
13-32929007-G-C |
BRCA2 |
c.7017G>C |
p.Lys2339Asn |
Missense |
14/27 |
- |
5-131930642-C-G |
RAD50 |
c.1875C>G |
p.Tyr625* |
Nonsense |
12/25 |
- |
16-72130103-C-G |
DHX38 |
c.47C>G |
p.Thr16Ser |
Missense |
2/27 |
- |
5-131915673-G-A |
RAD50 |
c.671G>A |
p.Arg224His |
Missense |
5/25 |
- |
10-82331296-G-T |
SH2D4B |
c.310G>T |
p.Ala104Ser |
Missense |
3/7 |
- |
7-21469680-A-T |
SP4 |
c.897A>T |
p.Gln299His |
Missense |
3/6 |
- |
7-21469680-A-G |
SP4 |
c.897A>G |
p.Gln299Gln |
Synonymous |
3/6 |
- |
2-207631446-G-C |
FASTKD2 |
c.29G>C |
p.Ser10Thr |
Missense |
2/12 |
- |
16-67919696-G-A |
NRN1L |
c.151G>A |
p.Glu51Lys |
Missense |
2/3 |
- |
2-173339808-G-A |
ITGA6 |
c.1138G>A |
p.Ala380Thr |
Missense |
7/26 |
- |
13-32907238-A-T |
BRCA2 |
c.1623A>T |
p.Glu541Asp |
Missense |
10/27 |
- |
19-41518244-C-T |
CYP2B6 |
c.1006C>T |
p.Arg336Cys |
Missense |
7/9 |
- |
11-2869129-G-T |
KCNQ1 |
c.1927G>T |
p.Gly643Cys |
Missense |
16/16 |
- |
13-32914196-G-T |
BRCA2 |
c.5704G>T |
p.Asp1902Tyr |
Missense |
11/27 |
- |
6-32155917-G-A |
PBX2 |
c.560C>T |
p.Thr187Met |
Missense |
4/9 |
- |
8-39862893-T-A |
IDO2 |
c.754T>A |
p.Ser252Thr |
Missense |
9/11 |
- |
6-167343185-G-T |
RNASET2 |
c.662C>A |
p.Ser221Tyr |
Missense |
9/9 |
- |
10-67894481-G-A |
CTNNA3 |
c.1885-31474C>T |
- |
IntronicSNV |
- |
13/17 |
11-68562300-C-T |
CPT1A |
c.851G>A |
p.Arg284His |
Missense |
8/19 |
- |
19-17452053-C-T |
GTPBP3 |
c.1175C>T |
p.Pro392Leu |
Missense |
8/9 |
- |
13-32900279-A-G |
BRCA2 |
c.467A>G |
p.Asp156Gly |
Missense |
5/27 |
- |
12-101738482-G-T |
UTP20 |
c.4559G>T |
p.Arg1520Leu |
Missense |
36/62 |
- |
18-11752462-G-T |
GNAL |
c.377-390G>T |
- |
IntronicSNV |
- |
1/11 |
18-11752462-G-C |
GNAL |
c.377-390G>C |
- |
IntronicSNV |
- |
1/11 |
19-18391390-G-A |
JUND |
c.905C>T |
p.Thr302Ile |
Missense |
1/1 |
- |
19-1221319-C-A |
STK11 |
c.842C>A |
p.Pro281Gln |
Missense |
6/10 |
- |
19-1221319-C-G |
STK11 |
c.842C>G |
p.Pro281Arg |
Missense |
6/10 |
- |
X-12419996-G-T |
FRMPD4 |
c.42-96803G>T |
- |
IntronicSNV |
- |
1/16 |
6-32948385-G-A |
BRD2 |
c.2296G>A |
p.Ala766Thr |
Missense |
13/13 |
- |
1-203455902-A-C |
PRELP |
c.1042A>C |
p.Asn348His |
Missense |
3/3 |
- |
6-41536427-C-T |
FOXP4 |
c.204+2725C>T |
- |
IntronicSNV |
- |
2/16 |
11-36119939-A-G |
LDLRAD3 |
c.382A>G |
p.Lys128Glu |
Missense |
4/6 |
- |
10-75156284-G-T |
ANXA7 |
c.428C>A |
p.Pro143His |
Missense |
5/13 |
- |
11-2869129-G-A |
KCNQ1 |
c.1927G>A |
p.Gly643Ser |
Missense |
16/16 |
- |
6-167343185-G-C |
RNASET2 |
c.662C>G |
p.Ser221Cys |
Missense |
9/9 |
- |
20-62505153-G-A |
TPD52L2 |
c.223G>A |
p.Val75Met |
Missense |
3/7 |
- |
22-29835141-C-T |
RFPL1 |
c.361C>T |
p.Arg121Trp |
Missense |
1/2 |
- |
20-39672618-T-A |
TOP1 |
c.58+14523T>A |
- |
IntronicSNV |
- |
2/20 |
10-75565704-C-T |
NDST2 |
c.1517G>A |
p.Arg506Gln |
Missense |
7/15 |
- |
19-16973224-G-A |
SIN3B |
c.1120G>A |
p.Ala374Thr |
Missense |
9/20 |
- |
4-187122332-G-A |
CYP4V2 |
c.823G>A |
p.Glu275Lys |
Missense |
7/11 |
- |
21-38444881-G-A |
PIGP |
c.7C>T |
p.Pro3Ser |
Missense |
1/4 |
- |
1-171486912-G-A |
PRRC2C |
c.703G>A |
p.Ala235Thr |
Missense |
6/34 |
- |
3-30875374-A-G |
GADL1 |
c.1021T>C |
p.Cys341Arg |
Missense |
11/15 |
- |
11-66335308-T-C |
CTSF |
c.312+147A>G |
- |
IntronicSNV |
- |
2/12 |
13-32900279-A-C |
BRCA2 |
c.467A>C |
p.Asp156Ala |
Missense |
5/27 |
- |
6-119399385-G-T |
FAM184A |
c.80C>A |
p.Ala27Glu |
Missense |
1/18 |
- |
1-75693501-G-A |
SLC44A5 |
c.895C>T |
p.Arg299Cys |
Missense |
13/24 |
- |
12-52779008-C-T |
KRT84 |
c.362G>A |
p.Gly121Asp |
Missense |
1/9 |
- |
11-129306648-T-C |
BARX2 |
c.190T>C |
p.Ser64Pro |
Missense |
2/4 |
- |
22-40755001-G-T |
ADSL |
c.616G>T |
p.Ala206Ser |
Missense |
5/13 |
- |
12-53491511-C-G |
IGFBP6 |
c.10C>G |
p.His4Asp |
Missense |
1/4 |
- |
12-53491511-C-A |
IGFBP6 |
c.10C>A |
p.His4Asn |
Missense |
1/4 |
- |
1-55464986-G-A |
BSND |
c.127G>A |
p.Val43Ile |
Missense |
1/4 |
- |
12-28412372-G-A |
CCDC91 |
c.106G>A |
p.Ala36Thr |
Missense |
3/13 |
- |
12-101738482-G-A |
UTP20 |
c.4559G>A |
p.Arg1520His |
Missense |
36/62 |
- |
16-23646942-T-C |
PALB2 |
c.925A>G |
p.Ile309Val |
Missense |
4/13 |
- |
6-6266854-C-T |
F13A1 |
c.508G>A |
p.Val170Ile |
Missense |
4/15 |
- |
19-1221319-C-T |
STK11 |
c.842C>T |
p.Pro281Leu |
Missense |
6/10 |
- |
16-19471571-G-A |
TMC5 |
c.325G>A |
p.Ala109Thr |
Missense |
2/18 |
- |
3-38307398-G-A |
SLC22A13 |
c.47G>A |
p.Arg16His |
Missense |
1/10 |
- |
3-38307398-G-C |
SLC22A13 |
c.47G>C |
p.Arg16Pro |
Missense |
1/10 |
- |
22-40755001-G-A |
ADSL |
c.616G>A |
p.Ala206Thr |
Missense |
5/13 |
- |
6-30865148-T-C |
DDR1 |
c.2008T>C |
p.Phe670Leu |
Missense |
14/17 |
- |
12-53491511-C-T |
IGFBP6 |
c.10C>T |
p.His4Tyr |
Missense |
1/4 |
- |
20-62326110-A-C |
RTEL1 |
c.3198A>C |
p.Gln1066His |
Missense |
32/35 |
- |
6-41617402-A-C |
MDFI |
c.305A>C |
p.Asn102Thr |
Missense |
4/5 |
- |
6-32814942-C-T |
TAP1 |
c.2123G>A |
p.Arg708Gln |
Missense |
10/11 |
- |
3-113179497-C-A |
SPICE1 |
c.1402G>T |
p.Gly468* |
Nonsense |
12/18 |
- |
3-113179497-C-T |
SPICE1 |
c.1402G>A |
p.Gly468Arg |
Missense |
12/18 |
- |
2-176829117-G-C |
LNPK |
c.476C>G |
p.Thr159Ser |
Missense |
8/13 |
- |
14-53619084-C-T |
DDHD1 |
c.733G>A |
p.Glu245Lys |
Missense |
1/13 |
- |
21-37518706-G-A |
CBR3 |
c.730G>A |
p.Val244Met |
Missense |
3/3 |
- |
1-182555640-A-G |
RNASEL |
c.302T>C |
p.Ile101Thr |
Missense |
2/7 |
- |
19-41884327-T-G |
TMEM91 |
c.113T>G |
p.Ile38Arg |
Missense |
2/4 |
- |
18-77171390-C-T |
NFATC1 |
c.1115C>T |
p.Ser372Phe |
Missense |
2/8 |
- |
18-77171390-C-A |
NFATC1 |
c.1115C>A |
p.Ser372Tyr |
Missense |
2/8 |
- |
5-131930649-A-G |
RAD50 |
c.1882A>G |
p.Lys628Glu |
Missense |
12/25 |
- |
1-204380232-T-C |
PPP1R15B |
c.308A>G |
p.Tyr103Cys |
Missense |
1/2 |
- |
1-110996652-C-T |
PROK1 |
c.142C>T |
p.Arg48Trp |
Missense |
2/3 |
- |
19-44352639-G-T |
ZNF283 |
c.1886G>T |
p.Arg629Leu |
Missense |
7/7 |
- |
9-27292474-T-C |
EQTN |
c.301A>G |
p.Asn101Asp |
Missense |
4/8 |
- |
2-120125058-C-G |
DBI |
c.1-103C>G |
- |
IntronicSNV |
- |
1/4 |
12-95879687-A-G |
METAP2 |
c.358A>G |
p.Ile120Val |
Missense |
4/11 |
- |
6-41884544-C-A |
MED20 |
c.148G>T |
p.Ala50Ser |
Missense |
2/4 |
- |
6-151914113-G-A |
CCDC170 |
c.1294-129G>A |
- |
IntronicSNV |
- |
7/10 |
22-39813759-T-G |
TAB1 |
c.455T>G |
p.Leu152Arg |
Missense |
5/11 |
- |
22-39813759-T-C |
TAB1 |
c.455T>C |
p.Leu152Pro |
Missense |
5/11 |
- |
22-29095881-C-T |
CHEK2 |
c.1082G>A |
p.Arg361His |
Missense |
10/16 |
- |
22-29095881-C-A |
CHEK2 |
c.1082G>T |
p.Arg361Leu |
Missense |
10/16 |
- |
22-29095881-C-G |
CHEK2 |
c.1082G>C |
p.Arg361Pro |
Missense |
10/16 |
- |
1-242159566-C-T |
MAP1LC3C |
c.343G>A |
p.Val115Met |
Missense |
4/4 |
- |
2-120125058-C-T |
DBI |
c.1-103C>T |
- |
IntronicSNV |
- |
1/4 |
3-127441353-C-T |
MGLL |
c.319G>A |
p.Val107Ile |
Missense |
4/8 |
- |
6-32605284-G-A |
HLA-DQA1 |
c.49G>A |
p.Val17Met |
Missense |
1/5 |
- |
6-41884544-C-T |
MED20 |
c.148G>A |
p.Ala50Thr |
Missense |
2/4 |
- |
19-51017762-C-T |
ASPDH |
c.5G>A |
p.Gly2Glu |
Missense |
1/5 |
- |
1-212587320-T-C |
TMEM206 |
c.36+744A>G |
- |
IntronicSNV |
- |
1/7 |
5-118969960-C-T |
FAM170A |
c.517C>T |
p.Pro173Ser |
Missense |
3/5 |
- |
4-70460328-C-T |
UGT2A2 |
c.1198G>A |
p.Val400Ile |
Missense |
5/6 |
- |
19-17566634-T-A |
NXNL1 |
c.461A>T |
p.Glu154Val |
Missense |
2/2 |
- |
5-131926997-G-T |
RAD50 |
c.1534G>T |
p.Ala512Ser |
Missense |
10/25 |
- |
8-55538687-C-G |
RP1 |
c.2245C>G |
p.Leu749Val |
Missense |
4/4 |
- |
8-55538687-C-T |
RP1 |
c.2245C>T |
p.Leu749Phe |
Missense |
4/4 |
- |
4-70460328-C-A |
UGT2A2 |
c.1198G>T |
p.Val400Phe |
Missense |
5/6 |
- |
5-1403128-G-A |
SLC6A3 |
c.1676C>T |
p.Ala559Val |
Missense |
13/15 |
- |
10-5498856-G-A |
NET1 |
c.1528G>A |
p.Glu510Lys |
Missense |
10/10 |
- |
20-60908969-T-C |
LAMA5 |
c.2866A>G |
p.Thr956Ala |
Missense |
23/80 |
- |
5-175793395-G-C |
ARL10 |
c.196G>C |
p.Glu66Gln |
Missense |
2/4 |
- |
11-108123551-C-T |
ATM |
c.1810C>T |
p.Pro604Ser |
Missense |
12/63 |
- |
1-155176044-C-A |
THBS3 |
c.233G>T |
p.Arg78Leu |
Missense |
2/23 |
- |
1-155176044-C-T |
THBS3 |
c.233G>A |
p.Arg78His |
Missense |
2/23 |
- |
16-84270890-T-C |
KCNG4 |
c.202A>G |
p.Arg68Gly |
Missense |
2/3 |
- |
15-55916703-T-G |
PRTG |
c.2930A>C |
p.Lys977Thr |
Missense |
18/20 |
- |
19-17886295-A-T |
FCHO1 |
c.976A>T |
p.Thr326Ser |
Missense |
15/29 |
- |
11-108160480-T-G |
ATM |
c.4388T>G |
p.Phe1463Cys |
Missense |
29/63 |
- |
4-10527472-T-C |
CLNK |
c.724A>G |
p.Ile242Val |
Missense |
14/19 |
- |
13-103710685-G-A |
SLC10A2 |
c.425C>T |
p.Pro142Leu |
Missense |
2/6 |
- |
3-113440653-T-C |
NAA50 |
c.464A>G |
p.Lys155Arg |
Missense |
5/5 |
- |
2-207631446-G-A |
FASTKD2 |
c.29G>A |
p.Ser10Asn |
Missense |
2/12 |
- |
19-19017899-C-G |
COPE |
c.313G>C |
p.Asp105His |
Missense |
4/10 |
- |
11-76813968-G-A |
CAPN5 |
c.297+9109G>A |
- |
IntronicSNV |
- |
3/12 |
13-32929309-A-C |
BRCA2 |
c.7319A>C |
p.His2440Pro |
Missense |
14/27 |
- |
13-32929309-A-G |
BRCA2 |
c.7319A>G |
p.His2440Arg |
Missense |
14/27 |
- |
2-182543455-T-C |
NEUROD1 |
c.133A>G |
p.Thr45Ala |
Missense |
2/2 |
- |
12-52282460-C-A |
ANKRD33 |
c.254C>A |
p.Pro85Gln |
Missense |
2/5 |
- |
12-52282460-C-G |
ANKRD33 |
c.254C>G |
p.Pro85Arg |
Missense |
2/5 |
- |
12-52282460-C-T |
ANKRD33 |
c.254C>T |
p.Pro85Leu |
Missense |
2/5 |
- |
X-100117807-T-C |
NOX1 |
c.340A>G |
p.Ile114Val |
Missense |
5/13 |
- |
19-51837487-C-T |
VSIG10L |
c.2377G>A |
p.Val793Ile |
Missense |
8/10 |
- |
8-67505363-A-T |
MYBL1 |
c.754T>A |
p.Phe252Ile |
Missense |
7/16 |
- |
2-241969887-G-A |
SNED1 |
c.400G>A |
p.Val134Ile |
Missense |
2/32 |
- |
4-25849141-C-A |
SEL1L3 |
c.508G>T |
p.Ala170Ser |
Missense |
2/24 |
- |
11-108201023-T-C |
ATM |
c.7390T>C |
p.Cys2464Arg |
Missense |
50/63 |
- |
3-169801858-T-A |
GPR160 |
c.98T>A |
p.Leu33His |
Missense |
4/4 |
- |
5-1077973-C-T |
SLC12A7 |
c.1604G>A |
p.Arg535His |
Missense |
12/24 |
- |
4-126373018-C-T |
FAT4 |
c.10847C>T |
p.Thr3616Met |
Missense |
9/17 |
- |
2-242814360-T-C |
RTP5 |
c.653T>C |
p.Ile218Thr |
Missense |
2/2 |
- |
13-32907238-A-C |
BRCA2 |
c.1623A>C |
p.Glu541Asp |
Missense |
10/27 |
- |
16-53825488-C-T |
FTO |
c.46-18564C>T |
- |
IntronicSNV |
- |
1/8 |
3-128038373-C-A |
EEFSEC |
c.787-21703C>A |
- |
IntronicSNV |
- |
4/6 |
19-44611656-G-A |
ZNF224 |
c.1343G>A |
p.Arg448His |
Missense |
6/6 |
- |
6-31513199-G-A |
ATP6V1G2 |
c.343C>T |
p.Arg115Trp |
Missense |
3/3 |
- |
19-17547292-A-G |
TMEM221 |
c.851T>C |
p.Met284Thr |
Missense |
3/3 |
- |
12-81528625-C-T |
ACSS3 |
c.487C>T |
p.His163Tyr |
Missense |
3/16 |
- |
17-7290695-A-G |
TNK1 |
c.1398-2A>G |
- |
IntronicSNV |
- |
9/12 |
19-8564474-G-T |
PRAM1 |
c.218C>A |
p.Pro73Gln |
Missense |
2/10 |
- |
14-69521637-C-T |
DCAF5 |
c.1766G>A |
p.Arg589His |
Missense |
9/9 |
- |
20-34572607-C-T |
CNBD2 |
c.623C>T |
p.Thr208Met |
Missense |
6/12 |
- |
6-31118511-T-G |
CCHCR1 |
c.825A>C |
p.Glu275Asp |
Missense |
6/18 |
- |
12-1022569-A-C |
RAD52 |
c.1245T>G |
p.Tyr415* |
Nonsense |
12/12 |
- |
16-81124216-T-C |
GCSH |
c.218A>G |
p.Asn73Ser |
Missense |
2/5 |
- |
17-41244936-G-T |
BRCA1 |
c.2612C>A |
p.Pro871Gln |
Missense |
10/23 |
- |
1-161018422-C-G |
ARHGAP30 |
c.2033-277G>C |
- |
IntronicSNV |
- |
12/12 |
10-82331231-T-C |
SH2D4B |
c.245T>C |
p.Leu82Pro |
Missense |
3/7 |
- |
20-61878950-A-C |
NKAIN4 |
c.451T>G |
p.Cys151Gly |
Missense |
4/7 |
- |
20-61878950-A-T |
NKAIN4 |
c.451T>A |
p.Cys151Ser |
Missense |
4/7 |
- |
12-121177159-C-T |
ACADS |
c.1147C>T |
p.Arg383Cys |
Missense |
10/10 |
- |
20-62187395-G-C |
FNDC11 |
c.379G>C |
p.Gly127Arg |
Missense |
2/2 |
- |
2-10262920-T-G |
RRM2 |
c.1-6T>G |
- |
5-UTRSNV |
1/10 |
- |
9-110249590-G-C |
KLF4 |
c.1085C>G |
p.Pro362Arg |
Missense |
3/5 |
- |
8-16032710-A-G |
MSR1 |
c.203T>C |
p.Ile68Thr |
Missense |
3/9 |
- |
1-247471846-G-A |
ZNF496 |
c.937C>T |
p.Arg313Cys |
Missense |
9/10 |
- |
6-153323570-A-C |
MTRF1L |
c.251T>G |
p.Leu84Trp |
Missense |
1/7 |
- |
6-153323570-A-G |
MTRF1L |
c.251T>C |
p.Leu84Ser |
Missense |
1/7 |
- |
18-10487749-C-A |
APCDD1 |
c.1259C>A |
p.Thr420Lys |
Missense |
5/5 |
- |
11-2185608-C-T |
TH |
c.1349G>A |
p.Arg450His |
Missense |
13/13 |
- |
17-41249297-G-T |
BRCA1 |
c.557C>A |
p.Ser186Tyr |
Missense |
8/23 |
- |
17-7577577-T-A |
TP53 |
c.704A>T |
p.Asn235Ile |
Missense |
7/11 |
- |
1-204128567-C-T |
REN |
c.649G>A |
p.Gly217Arg |
Missense |
5/10 |
- |
5-140762533-C-A |
PCDHGA1 |
c.2421+49861C>A |
- |
IntronicSNV |
- |
1/3 |
17-72366770-G-A |
GPR142 |
c.469G>A |
p.Val157Ile |
Missense |
3/4 |
- |
2-238672523-G-A |
LRRFIP1 |
c.2095G>A |
p.Ala699Thr |
Missense |
10/10 |
- |
19-44570393-C-G |
ZNF223 |
c.412C>G |
p.Leu138Val |
Missense |
5/5 |
- |
19-44570393-C-A |
ZNF223 |
c.412C>A |
p.Leu138Ile |
Missense |
5/5 |
- |
2-43937393-T-C |
PLEKHH2 |
c.2138T>C |
p.Met713Thr |
Missense |
13/30 |
- |
19-51607507-G-A |
CTU1 |
c.320C>T |
p.Ala107Val |
Missense |
2/3 |
- |
17-41249297-G-A |
BRCA1 |
c.557C>T |
p.Ser186Phe |
Missense |
8/23 |
- |
17-48068913-C-A |
DLX3 |
c.832G>T |
p.Gly278Trp |
Missense |
3/3 |
- |
13-42259195-T-G |
VWA8 |
c.4315A>C |
p.Ile1439Leu |
Missense |
35/45 |
- |
20-39797465-T-C |
PLCG1 |
c.2438T>C |
p.Ile813Thr |
Missense |
21/32 |
- |
20-60866804-A-C |
OSBPL2 |
c.1259A>C |
p.Glu420Ala |
Missense |
13/14 |
- |
6-31912523-T-C |
C2 |
c.1922T>C |
p.Val641Ala |
Missense |
16/18 |
- |
11-108124761-T-C |
ATM |
c.2119T>C |
p.Ser707Pro |
Missense |
13/63 |
- |
22-43520105-C-T |
BIK |
c.77C>T |
p.Thr26Ile |
Missense |
2/5 |
- |
6-33653486-G-A |
ITPR3 |
c.5549G>A |
p.Arg1850Gln |
Missense |
41/58 |
- |
6-13711281-G-A |
RANBP9 |
c.457C>T |
p.Arg153Cys |
Missense |
1/14 |
- |
6-13711281-G-C |
RANBP9 |
c.457C>G |
p.Arg153Gly |
Missense |
1/14 |
- |
10-72298745-C-T |
PALD1 |
c.1550C>T |
p.Thr517Met |
Missense |
13/20 |
- |
8-16032808-A-T |
MSR1 |
c.105T>A |
p.Asn35Lys |
Missense |
3/9 |
- |
5-16676247-G-A |
MYO10 |
c.4559C>T |
p.Ser1520Leu |
Missense |
34/41 |
- |
5-131930678-T-A |
RAD50 |
c.1911T>A |
p.Asp637Glu |
Missense |
12/25 |
- |
13-32937521-G-C |
BRCA2 |
c.8182G>C |
p.Val2728Leu |
Missense |
18/27 |
- |
12-121592689-T-C |
P2RX7 |
c.227T>C |
p.Val76Ala |
Missense |
2/13 |
- |
13-32914815-G-T |
BRCA2 |
c.6323G>T |
p.Arg2108Leu |
Missense |
11/27 |
- |
13-32914815-G-A |
BRCA2 |
c.6323G>A |
p.Arg2108His |
Missense |
11/27 |
- |
17-34191290-C-T |
HEATR9 |
c.527G>A |
p.Arg176His |
Missense |
6/15 |
- |
19-44377669-G-A |
ZNF404 |
c.697C>T |
p.His233Tyr |
Missense |
3/3 |
- |
17-34191290-C-G |
HEATR9 |
c.527G>C |
p.Arg176Pro |
Missense |
6/15 |
- |
19-49368843-T-C |
PLEKHA4 |
c.109A>G |
p.Ile37Val |
Missense |
3/17 |
- |
X-51076079-G-C |
NUDT10 |
c.262G>C |
p.Asp88His |
Missense |
2/3 |
- |
12-132322812-C-T |
MMP17 |
c.232C>T |
p.Leu78Leu |
Synonymous |
2/10 |
- |
16-71570847-G-A |
CHST4 |
c.267G>A |
p.Met89Ile |
Missense |
2/2 |
- |
12-132322812-C-A |
MMP17 |
c.232C>A |
p.Leu78Met |
Missense |
2/10 |
- |
9-139925983-G-A |
FUT7 |
c.208C>T |
p.Arg70Cys |
Missense |
2/2 |
- |
10-122649483-A-G |
WDR11 |
c.2305A>G |
p.Met769Val |
Missense |
18/29 |
- |
12-100775956-T-C |
SLC17A8 |
c.354+1225T>C |
- |
IntronicSNV |
- |
2/11 |
10-122649483-A-C |
WDR11 |
c.2305A>C |
p.Met769Leu |
Missense |
18/29 |
- |
11-69462910-G-A |
CCND1 |
c.723G>A |
p.Pro241Pro |
Synonymous |
4/5 |
- |
1-27677375-G-A |
SYTL1 |
c.1060G>A |
p.Glu354Lys |
Missense |
11/15 |
- |
22-43471508-T-C |
TTLL1 |
c.85A>G |
p.Thr29Ala |
Missense |
3/11 |
- |
18-5397205-G-C |
EPB41L3 |
c.2693C>G |
p.Thr898Arg |
Missense |
18/23 |
- |
18-5397205-G-A |
EPB41L3 |
c.2693C>T |
p.Thr898Met |
Missense |
18/23 |
- |
11-17809762-T-G |
SERGEF |
c.1247A>C |
p.Tyr416Ser |
Missense |
11/11 |
- |
17-41244000-T-A |
BRCA1 |
c.3548A>T |
p.Lys1183Ile |
Missense |
10/23 |
- |
11-17809762-T-C |
SERGEF |
c.1247A>G |
p.Tyr416Cys |
Missense |
11/11 |
- |
6-41766425-T-G |
USP49 |
c.1913A>C |
p.Glu638Ala |
Missense |
7/7 |
- |
17-4541963-T-C |
ALOX15 |
c.559A>G |
p.Ile187Val |
Missense |
5/14 |
- |
6-149918748-G-A |
KATNA1 |
c.1045C>T |
p.Pro349Ser |
Missense |
9/11 |
- |
5-35065328-C-T |
PRLR |
c.1732G>A |
p.Glu578Lys |
Missense |
10/10 |
- |
5-58337481-T-G |
PDE4D |
c.809-2683A>C |
- |
IntronicSNV |
- |
5/14 |
16-80641994-C-T |
CDYL2 |
c.1357G>A |
p.Ala453Thr |
Missense |
6/7 |
- |
8-144663466-G-A |
EEF1D |
c.1320C>T |
p.Ser440Ser |
Synonymous |
6/10 |
- |
11-108098561-A-G |
ATM |
c.131A>G |
p.Asp44Gly |
Missense |
3/63 |
- |
13-32914277-A-G |
BRCA2 |
c.5785A>G |
p.Ile1929Val |
Missense |
11/27 |
- |
17-59793412-G-A |
BRIP1 |
c.2392C>T |
p.Arg798* |
Nonsense |
17/20 |
- |
19-50921137-G-T |
POLD1 |
c.3257G>T |
p.Arg1086Leu |
Missense |
27/27 |
- |
13-32906593-C-G |
BRCA2 |
c.978C>G |
p.Ser326Arg |
Missense |
10/27 |
- |
22-40415968-G-T |
FAM83F |
c.735G>T |
p.Arg245Ser |
Missense |
3/5 |
- |
19-50921137-G-A |
POLD1 |
c.3257G>A |
p.Arg1086Gln |
Missense |
27/27 |
- |
6-31105891-A-T |
PSORS1C1 |
c.14-316A>T |
- |
IntronicSNV |
- |
3/5 |
11-108122592-C-G |
ATM |
c.1636C>G |
p.Leu546Val |
Missense |
11/63 |
- |
11-108200946-C-G |
ATM |
c.7313C>G |
p.Thr2438Arg |
Missense |
50/63 |
- |
11-108200946-C-T |
ATM |
c.7313C>T |
p.Thr2438Ile |
Missense |
50/63 |
- |
13-32912582-A-G |
BRCA2 |
c.4090A>G |
p.Ile1364Val |
Missense |
11/27 |
- |
22-47091143-A-C |
CERK |
c.1013T>G |
p.Val338Gly |
Missense |
9/13 |
- |
13-32910456-C-A |
BRCA2 |
c.1964C>A |
p.Pro655Gln |
Missense |
11/27 |
- |
13-32910456-C-G |
BRCA2 |
c.1964C>G |
p.Pro655Arg |
Missense |
11/27 |
- |
13-32911419-C-T |
BRCA2 |
c.2927C>T |
p.Ser976Phe |
Missense |
11/27 |
- |
13-32910456-C-T |
BRCA2 |
c.1964C>T |
p.Pro655Leu |
Missense |
11/27 |
- |
17-47007872-T-C |
SNF8 |
c.742A>G |
p.Ile248Val |
Missense |
8/8 |
- |
1-204394056-C-T |
PIK3C2B |
c.4829G>A |
p.Arg1610His |
Missense |
34/34 |
- |
13-114507886-C-T |
TMEM255B |
c.698C>T |
p.Pro233Leu |
Missense |
8/9 |
- |
20-62607179-G-T |
SAMD10 |
c.452C>A |
p.Ala151Glu |
Missense |
4/5 |
- |
12-95914962-T-C |
USP44 |
c.1750A>G |
p.Asn584Asp |
Missense |
5/6 |
- |
3-367705-A-G |
CHL1 |
c.155A>G |
p.Tyr52Cys |
Missense |
4/28 |
- |
18-31328519-C-T |
ASXL3 |
c.*1960C>T |
- |
IntergenicSNV |
12/12 |
- |
17-59763347-A-G |
BRIP1 |
c.2755T>C |
p.Ser919Pro |
Missense |
19/20 |
- |
2-239049718-G-A |
KLHL30 |
c.323G>A |
p.Arg108His |
Missense |
2/8 |
- |
10-81318680-C-G |
SFTPA2 |
c.254G>C |
p.Arg85Pro |
Missense |
4/6 |
- |
19-42364912-A-G |
RPS19 |
c.68A>G |
p.Lys23Arg |
Missense |
2/6 |
- |
1-114523753-G-T |
OLFML3 |
c.583G>T |
p.Ala195Ser |
Missense |
3/3 |
- |
6-31604044-T-G |
PRRC2A |
c.5683T>G |
p.Leu1895Val |
Missense |
26/31 |
- |
6-32050061-C-T |
TNXB |
c.3488G>A |
p.Gly1163Glu |
Missense |
9/44 |
- |
8-16032791-G-C |
MSR1 |
c.122C>G |
p.Ser41Cys |
Missense |
3/9 |
- |
8-16032791-G-T |
MSR1 |
c.122C>A |
p.Ser41Tyr |
Missense |
3/9 |
- |
1-155162050-C-A |
MUC1 |
c.83G>T |
p.Ser28Ile |
Missense |
2/8 |
- |
1-154573718-C-T |
ADAR |
c.1400G>A |
p.Arg467His |
Missense |
2/15 |
- |
11-8876852-C-T |
ST5 |
c.-155-15955G>A |
- |
intron_variant |
- |
2/22 |
11-102495959-G-A |
MMP20 |
c.92C>T |
p.Pro31Leu |
Missense |
1/10 |
- |
19-38379699-C-A |
WDR87 |
c.4495G>T |
p.Ala1499Ser |
Missense |
6/6 |
- |
16-23646530-T-A |
PALB2 |
c.1337A>T |
p.Asp446Val |
Missense |
4/13 |
- |
16-23646530-T-C |
PALB2 |
c.1337A>G |
p.Asp446Gly |
Missense |
4/13 |
- |
10-81318680-C-T |
SFTPA2 |
c.254G>A |
p.Arg85His |
Missense |
4/6 |
- |
14-61180657-T-G |
SIX4 |
c.1814A>C |
p.His605Pro |
Missense |
3/3 |
- |
16-840599-C-T |
CHTF18 |
c.827C>T |
p.Ala276Val |
Missense |
7/22 |
- |
6-31778195-G-A |
HSPA1L |
c.1555C>T |
p.Arg519Cys |
Missense |
2/2 |
- |
6-31918154-A-G |
CFB |
c.1598A>G |
p.Lys533Arg |
Missense |
12/18 |
- |
12-4737736-G-A |
AKAP3 |
c.332C>T |
p.Pro111Leu |
Missense |
5/6 |
- |
2-85629000-G-A |
CAPG |
c.104C>T |
p.Ala35Val |
Missense |
3/10 |
- |
7-51096992-G-A |
COBL |
c.1801C>T |
p.His601Tyr |
Missense |
10/13 |
- |
22-36876729-T-G |
TXN2 |
c.156A>C |
p.Ile52Ile |
Synonymous |
2/4 |
- |
22-36876729-T-C |
TXN2 |
c.156A>G |
p.Ile52Met |
Missense |
2/4 |
- |
16-20681229-T-A |
ACSM1 |
c.832A>T |
p.Thr278Ser |
Missense |
5/13 |
- |
22-29121087-A-C |
CHEK2 |
c.599T>G |
p.Ile200Ser |
Missense |
5/16 |
- |
2-20512016-C-T |
PUM2 |
c.329G>A |
p.Arg110Gln |
Missense |
4/21 |
- |
11-68853389-A-C |
TPCN2 |
c.1994A>C |
p.Tyr665Ser |
Missense |
22/25 |
- |
8-16035394-C-G |
MSR1 |
c.103+1G>C |
- |
IntronicSNV |
- |
2/8 |
8-16035394-C-T |
MSR1 |
c.103+1G>A |
- |
IntronicSNV |
- |
2/8 |
10-126696872-T-C |
CTBP2 |
c.59-4811A>G |
- |
IntronicSNV |
- |
3/10 |
17-41226488-C-A |
BRCA1 |
c.4535G>T |
p.Ser1512Ile |
Missense |
14/23 |
- |
13-113530199-G-A |
ATP11A |
c.3271G>A |
p.Val1091Ile |
Missense |
28/30 |
- |
9-130687485-C-T |
PIP5KL1 |
c.209G>A |
p.Arg70Gln |
Missense |
4/5 |
- |
2-20512016-C-G |
PUM2 |
c.329G>C |
p.Arg110Pro |
Missense |
4/21 |
- |
11-5411122-C-T |
OR51M1 |
c.494C>T |
p.Pro165Leu |
Missense |
1/1 |
- |
17-58233974-A-G |
CA4 |
c.166A>G |
p.Ile56Val |
Missense |
3/8 |
- |
6-30656509-G-A |
NRM |
c.736C>T |
p.Arg246Cys |
Missense |
4/4 |
- |
13-32912361-G-T |
BRCA2 |
c.3869G>T |
p.Cys1290Phe |
Missense |
11/27 |
- |
13-32912361-G-A |
BRCA2 |
c.3869G>A |
p.Cys1290Tyr |
Missense |
11/27 |
- |
17-72613389-C-T |
CD300E |
c.256G>A |
p.Ala86Thr |
Missense |
2/4 |
- |
2-85573188-C-T |
RETSAT |
c.1027G>A |
p.Val343Met |
Missense |
6/11 |
- |
11-2192927-C-T |
TH |
c.90G>A |
p.Met30Ile |
Missense |
1/13 |
- |
1-153934820-C-T |
SLC39A1 |
c.194G>A |
p.Arg65His |
Missense |
4/5 |
- |
6-149833318-G-A |
PPIL4 |
c.1200C>T |
p.Asp400Asp |
Synonymous |
12/13 |
- |
8-29202959-G-A |
DUSP4 |
c.433+4404C>T |
- |
IntronicSNV |
- |
1/3 |
8-29202959-G-T |
DUSP4 |
c.433+4404C>A |
- |
IntronicSNV |
- |
1/3 |
17-7846836-A-T |
CNTROB |
c.1439A>T |
p.His480Leu |
Missense |
10/19 |
- |
15-90190186-G-A |
KIF7 |
c.1663C>T |
p.Pro555Ser |
Missense |
7/19 |
- |
20-43851523-G-C |
SEMG2 |
c.1250G>C |
p.Arg417Pro |
Missense |
2/3 |
- |
11-108198400-C-T |
ATM |
c.7004C>T |
p.Thr2335Ile |
Missense |
48/63 |
- |
11-108198400-C-A |
ATM |
c.7004C>A |
p.Thr2335Lys |
Missense |
48/63 |
- |
4-47427873-C-T |
GABRB1 |
c.1263C>T |
p.His421His |
Synonymous |
9/9 |
- |
4-47427873-C-G |
GABRB1 |
c.1263C>G |
p.His421Gln |
Missense |
9/9 |
- |
11-2426793-C-T |
TRPM5 |
c.3355G>A |
p.Val1119Met |
Missense |
23/24 |
- |
20-32251396-A-G |
NECAB3 |
c.388-3195T>C |
- |
IntronicSNV |
- |
5/12 |
12-49310831-A-G |
CCDC65 |
c.549A>G |
p.Ile183Met |
Missense |
4/8 |
- |
2-20888265-A-G |
LDAH |
c.787-1411T>C |
- |
IntronicSNV |
- |
6/6 |
2-101591304-A-G |
NPAS2 |
c.1180A>G |
p.Thr394Ala |
Missense |
13/21 |
- |
11-36596427-C-T |
RAG1 |
c.1573C>T |
p.Pro525Ser |
Missense |
2/2 |
- |
10-75135891-C-G |
ANXA7 |
c.1363G>C |
p.Asp455His |
Missense |
13/13 |
- |
1-186313108-C-T |
TPR |
c.3532G>A |
p.Val1178Ile |
Missense |
26/51 |
- |
16-58552349-G-C |
SETD6 |
c.946G>C |
p.Asp316His |
Missense |
8/9 |
- |
16-58552349-G-A |
SETD6 |
c.946G>A |
p.Asp316Asn |
Missense |
8/9 |
- |
13-32930633-C-T |
BRCA2 |
c.7504C>T |
p.Arg2502Cys |
Missense |
15/27 |
- |
13-32912679-A-G |
BRCA2 |
c.4187A>G |
p.Gln1396Arg |
Missense |
11/27 |
- |
1-154834183-G-A |
KCNN3 |
c.933+7325C>T |
- |
IntronicSNV |
- |
1/7 |
11-1902793-A-G |
LSP1 |
c.323A>G |
p.Gln108Arg |
Missense |
3/11 |
- |
2-202074086-A-C |
CASP10 |
c.1216A>C |
p.Ile406Leu |
Missense |
9/10 |
- |
2-172931008-G-A |
METAP1D |
c.514G>A |
p.Gly172Arg |
Missense |
5/10 |
- |
2-202074086-A-T |
CASP10 |
c.1216A>T |
p.Ile406Leu |
Missense |
9/10 |
- |
6-109700847-T-C |
CD164 |
c.194A>G |
p.Asn65Ser |
Missense |
2/6 |
- |
1-202573729-C-T |
SYT2 |
c.199G>A |
p.Ala67Thr |
Missense |
3/9 |
- |
17-8046147-C-T |
PER1 |
c.3079G>A |
p.Val1027Ile |
Missense |
20/23 |
- |
17-8046147-C-G |
PER1 |
c.3079G>C |
p.Val1027Leu |
Missense |
20/23 |
- |
17-8046147-C-A |
PER1 |
c.3079G>T |
p.Val1027Phe |
Missense |
20/23 |
- |
12-53242695-C-T |
KRT78 |
c.20G>A |
p.Arg7Gln |
Missense |
1/9 |
- |
11-65167232-G-C |
FRMD8 |
c.829G>C |
p.Asp277His |
Missense |
8/11 |
- |
11-551741-C-T |
LRRC56 |
c.887C>T |
p.Ser296Phe |
Missense |
10/14 |
- |
11-551741-C-A |
LRRC56 |
c.887C>A |
p.Ser296Tyr |
Missense |
10/14 |
- |
6-32123494-G-T |
PPT2 |
c.385G>T |
p.Val129Phe |
Missense |
4/9 |
- |
10-31810679-A-G |
ZEB1 |
c.2416A>G |
p.Thr806Ala |
Missense |
7/9 |
- |
17-12896212-C-T |
ELAC2 |
c.2284G>A |
p.Gly762Ser |
Missense |
23/23 |
- |
6-32117456-G-C |
PRRT1 |
c.602C>G |
p.Thr201Ser |
Missense |
3/4 |
- |
20-18122912-C-A |
PET117 |
c.157C>A |
p.Arg53Ser |
Missense |
2/2 |
- |
5-131953850-A-G |
RAD50 |
c.3253A>G |
p.Ile1085Val |
Missense |
21/25 |
- |
12-52995098-T-C |
KRT72 |
c.139A>G |
p.Lys47Glu |
Missense |
1/9 |
- |
11-69631109-C-A |
FGF3 |
c.303G>T |
p.Lys101Asn |
Missense |
2/3 |
- |
3-30682939-G-T |
TGFBR2 |
c.170-3300G>T |
- |
IntronicSNV |
- |
2/7 |
13-32968922-T-G |
BRCA2 |
c.9353T>G |
p.Met3118Arg |
Missense |
25/27 |
- |
13-32930673-C-T |
BRCA2 |
c.7544C>T |
p.Thr2515Ile |
Missense |
15/27 |
- |
1-248059423-C-T |
OR2W3 |
c.535C>T |
p.Arg179Cys |
Missense |
1/1 |
- |
20-32661434-A-G |
RALY |
c.322A>G |
p.Ile108Val |
Missense |
4/9 |
- |
7-73971995-A-G |
GTF2IRD1 |
c.2095A>G |
p.Ile699Val |
Missense |
20/27 |
- |
1-220180562-T-G |
EPRS |
c.1724A>C |
p.Asn575Thr |
Missense |
14/32 |
- |
1-220180562-T-C |
EPRS |
c.1724A>G |
p.Asn575Ser |
Missense |
14/32 |
- |
22-29707953-A-T |
GAS2L1 |
c.1512A>T |
p.Ala504Ala |
Synonymous |
7/7 |
- |
9-116132334-C-T |
BSPRY |
c.1121C>T |
p.Thr374Ile |
Missense |
6/6 |
- |
3-57902766-A-T |
SLMAP |
c.2170A>T |
p.Ser724Cys |
Missense |
19/21 |
- |
19-49376665-G-A |
PPP1R15A |
c.175G>A |
p.Gly59Ser |
Missense |
2/3 |
- |
7-97911717-G-C |
BRI3 |
c.197G>C |
p.Arg66Pro |
Missense |
2/3 |
- |
7-97911717-G-A |
BRI3 |
c.197G>A |
p.Arg66His |
Missense |
2/3 |
- |
10-24813550-G-A |
KIAA1217 |
c.2755G>A |
p.Val919Ile |
Missense |
13/21 |
- |
17-45904542-C-T |
MRPL10 |
c.251G>A |
p.Arg84Gln |
Missense |
3/5 |
- |
16-69458591-C-T |
CYB5B |
c.5C>T |
p.Ser2Phe |
Missense |
1/5 |
- |
16-69458591-C-A |
CYB5B |
c.5C>A |
p.Ser2Tyr |
Missense |
1/5 |
- |
3-141102833-G-A |
ZBTB38 |
c.-417+2504G>A |
- |
intron_variant |
- |
4/7 |
2-166032837-G-A |
SCN3A |
c.68C>T |
p.Ala23Val |
Missense |
3/28 |
- |
20-51722623-G-T |
TSHZ2 |
c.40+132751G>T |
- |
IntronicSNV |
- |
1/2 |
12-49745118-G-A |
DNAJC22 |
c.859G>A |
p.Gly287Arg |
Missense |
3/3 |
- |
1-182550418-C-G |
RNASEL |
c.1847G>C |
p.Arg616Thr |
Missense |
5/7 |
- |
2-242038985-G-A |
MTERF4 |
c.346C>T |
p.Arg116Trp |
Missense |
2/4 |
- |
18-28713994-A-C |
DSC1 |
c.1976T>G |
p.Met659Arg |
Missense |
13/17 |
- |
2-19553104-T-G |
OSR1 |
c.463A>C |
p.Lys155Gln |
Missense |
2/3 |
- |
19-18980172-G-A |
GDF1 |
c.353C>T |
p.Ala118Val |
Missense |
8/8 |
- |
13-32910403-T-C |
BRCA2 |
c.1911T>C |
p.Gly637Gly |
Synonymous |
11/27 |
- |
12-14993439-C-T |
ART4 |
c.793G>A |
p.Asp265Asn |
Missense |
2/3 |
- |
13-32972884-A-G |
BRCA2 |
c.10234A>G |
p.Ile3412Val |
Missense |
27/27 |
- |
20-36989391-G-A |
LBP |
c.622G>A |
p.Asp208Asn |
Missense |
6/15 |
- |
3-5229499-G-C |
EDEM1 |
c.9G>C |
p.Trp3Cys |
Missense |
1/12 |
- |
4-125593261-T-C |
ANKRD50 |
c.1171A>G |
p.Ile391Val |
Missense |
4/5 |
- |
6-30887344-T-C |
VARS2 |
c.1075-191T>C |
- |
IntronicSNV |
- |
11/29 |
18-28713994-A-T |
DSC1 |
c.1976T>A |
p.Met659Lys |
Missense |
13/17 |
- |
18-28713994-A-G |
DSC1 |
c.1976T>C |
p.Met659Thr |
Missense |
13/17 |
- |
2-43902848-C-A |
C1GALT1C1L |
c.614G>T |
p.Cys205Phe |
Missense |
1/1 |
- |
17-36486307-C-T |
GPR179 |
c.3145G>A |
p.Ala1049Thr |
Missense |
11/11 |
- |
5-169680139-G-C |
LCP2 |
c.1229C>G |
p.Ser410Cys |
Missense |
18/21 |
- |
14-53372330-T-G |
FERMT2 |
c.392-12185A>C |
- |
IntronicSNV |
- |
3/14 |
6-109294590-A-G |
ARMC2 |
c.2477A>G |
p.Asp826Gly |
Missense |
18/18 |
- |
11-57958038-C-T |
OR9Q2 |
c.76C>T |
p.Pro26Ser |
Missense |
1/1 |
- |
19-1058176-A-G |
ABCA7 |
c.5057A>G |
p.Gln1686Arg |
Missense |
37/47 |
- |
19-50985170-C-T |
EMC10 |
c.731C>T |
p.Ala244Val |
Missense |
7/8 |
- |
3-172835290-C-G |
SPATA16 |
c.232G>C |
p.Glu78Gln |
Missense |
2/11 |
- |
3-172835290-C-T |
SPATA16 |
c.232G>A |
p.Glu78Lys |
Missense |
2/11 |
- |
19-42342993-T-G |
LYPD4 |
c.173A>C |
p.Gln58Pro |
Missense |
3/5 |
- |
4-106320250-C-A |
PPA2 |
c.727G>T |
p.Val243Leu |
Missense |
8/12 |
- |
4-106320250-C-T |
PPA2 |
c.727G>A |
p.Val243Ile |
Missense |
8/12 |
- |
11-1088835-C-T |
MUC2 |
c.3620C>T |
p.Thr1207Ile |
Missense |
26/51 |
- |
7-97369228-G-A |
TAC1 |
c.386G>A |
p.Arg129His |
Missense |
7/7 |
- |
12-53225239-C-A |
KRT79 |
c.649G>T |
p.Asp217Tyr |
Missense |
2/9 |
- |
4-74607328-A-G |
CXCL8 |
c.134A>G |
p.His45Arg |
Missense |
2/4 |
- |
13-32937526-G-A |
BRCA2 |
c.8187G>A |
p.Lys2729Lys |
Synonymous |
18/27 |
- |
13-32937526-G-T |
BRCA2 |
c.8187G>T |
p.Lys2729Asn |
Missense |
18/27 |
- |
19-41822457-C-T |
CCDC97 |
c.215C>T |
p.Ala72Val |
Missense |
2/5 |
- |
4-1725159-A-G |
TACC3 |
c.11A>G |
p.Gln4Arg |
Missense |
2/16 |
- |
22-44079728-A-C |
EFCAB6 |
c.1150T>G |
p.Ser384Ala |
Missense |
12/32 |
- |
2-175265912-T-C |
SCRN3 |
c.536T>C |
p.Val179Ala |
Missense |
4/8 |
- |
1-38032607-C-T |
GNL2 |
c.2045G>A |
p.Arg682Gln |
Missense |
16/16 |
- |
3-149485531-A-C |
ANKUB1 |
c.918T>G |
p.Ile306Met |
Missense |
5/6 |
- |
6-46684222-C-T |
PLA2G7 |
c.275G>A |
p.Arg92His |
Missense |
4/12 |
- |
6-46684222-C-A |
PLA2G7 |
c.275G>T |
p.Arg92Leu |
Missense |
4/12 |
- |
2-228560632-C-T |
SLC19A3 |
c.1145G>A |
p.Ser382Asn |
Missense |
4/6 |
- |
12-27890508-G-A |
MRPS35 |
c.669G>A |
p.Val223Val |
Synonymous |
7/8 |
- |
2-68613681-C-T |
PLEK |
c.520C>T |
p.Arg174Cys |
Missense |
5/9 |
- |
14-37132608-G-A |
PAX9 |
c.511G>A |
p.Ala171Thr |
Missense |
3/5 |
- |
20-61040502-G-A |
GATA5 |
c.932C>T |
p.Ser311Leu |
Missense |
6/7 |
- |
6-154411240-T-A |
OPRM1 |
c.570T>A |
p.Asn190Lys |
Missense |
2/4 |
- |
6-154411240-T-C |
OPRM1 |
c.570T>C |
p.Asn190Asn |
Synonymous |
2/4 |
- |
16-3639827-G-A |
SLX4 |
c.3812C>T |
p.Ser1271Phe |
Missense |
12/15 |
- |
13-32954261-G-A |
BRCA2 |
c.9235G>A |
p.Val3079Ile |
Missense |
24/27 |
- |
2-219530662-G-A |
RNF25 |
c.550C>T |
p.Arg184Trp |
Missense |
7/10 |
- |
2-219530662-G-T |
RNF25 |
c.550C>A |
p.Arg184Arg |
Synonymous |
7/10 |
- |
17-80137043-C-G |
CCDC57 |
c.1234G>C |
p.Ala412Pro |
Missense |
9/17 |
- |
20-62369997-C-T |
LIME1 |
c.632C>T |
p.Pro211Leu |
Missense |
6/6 |
- |
17-12898323-T-C |
ELAC2 |
c.1745A>G |
p.Glu582Gly |
Missense |
19/23 |
- |
2-170460536-A-C |
PPIG |
c.1-16A>C |
- |
5-UTRSNV |
3/14 |
- |
2-170460536-A-G |
PPIG |
c.1-16A>G |
- |
5-UTRSNV |
3/14 |
- |
5-57913614-T-C |
RAB3C |
c.169T>C |
p.Ser57Pro |
Missense |
2/5 |
- |
6-34512195-G-C |
SPDEF |
c.38C>G |
p.Pro13Arg |
Missense |
2/6 |
- |
2-173311553-A-G |
ITGA6 |
c.183-18714A>G |
- |
IntronicSNV |
- |
1/25 |
17-7750936-A-T |
KDM6B |
c.1330A>T |
p.Ser444Cys |
Missense |
11/22 |
- |
17-7750936-A-G |
KDM6B |
c.1330A>G |
p.Ser444Gly |
Missense |
11/22 |
- |
19-44536192-G-A |
ZNF222 |
c.485G>A |
p.Cys162Tyr |
Missense |
4/4 |
- |
14-68250147-C-T |
ZFYVE26 |
c.3722G>A |
p.Arg1241Gln |
Missense |
21/42 |
- |
19-41884327-T-C |
TMEM91 |
c.113T>C |
p.Ile38Thr |
Missense |
2/4 |
- |
8-126448674-G-T |
TRIB1 |
c.1080G>T |
p.Glu360Asp |
Missense |
3/3 |
- |
2-37513340-C-T |
PRKD3 |
c.890G>A |
p.Arg297His |
Missense |
5/18 |
- |
12-27841260-G-C |
PPFIBP1 |
c.2400G>C |
p.Lys800Asn |
Missense |
26/30 |
- |
1-228505275-C-T |
OBSCN |
c.13672C>T |
p.Arg4558Cys |
Missense |
52/81 |
- |
11-73753106-A-G |
C2CD3 |
c.5653T>C |
p.Ser1885Pro |
Missense |
29/31 |
- |
19-18779240-A-G |
KLHL26 |
c.1033A>G |
p.Thr345Ala |
Missense |
3/3 |
- |
15-91428327-C-A |
FES |
c.52C>A |
p.Gln18Lys |
Missense |
2/19 |
- |
16-23646857-A-G |
PALB2 |
c.1010T>C |
p.Leu337Ser |
Missense |
4/13 |
- |
16-23646857-A-T |
PALB2 |
c.1010T>A |
p.Leu337* |
Nonsense |
4/13 |
- |
11-1081112-G-A |
MUC2 |
c.1408G>A |
p.Glu470Lys |
Missense |
11/51 |
- |
4-38930893-G-T |
FAM114A1 |
c.1100G>T |
p.Arg367Leu |
Missense |
10/15 |
- |
4-38930893-G-A |
FAM114A1 |
c.1100G>A |
p.Arg367His |
Missense |
10/15 |
- |
2-10053341-G-C |
TAF1B |
c.1234G>C |
p.Asp412His |
Missense |
12/15 |
- |
11-1718714-G-T |
KRTAP5-6 |
c.239G>T |
p.Cys80Phe |
Missense |
1/1 |
- |
2-121106851-G-A |
INHBB |
c.625G>A |
p.Gly209Ser |
Missense |
2/2 |
- |
11-108129778-C-T |
ATM |
c.2442C>T |
p.Asp814Asp |
Synonymous |
16/63 |
- |
11-108129778-C-A |
ATM |
c.2442C>A |
p.Asp814Glu |
Missense |
16/63 |
- |
11-108186818-C-T |
ATM |
c.6176C>T |
p.Thr2059Ile |
Missense |
42/63 |
- |
3-101576143-A-G |
NFKBIZ |
c.1943A>G |
p.Asn648Ser |
Missense |
11/12 |
- |
19-51009440-C-T |
JOSD2 |
c.557G>A |
p.Arg186Gln |
Missense |
5/5 |
- |
22-29196494-C-T |
XBP1 |
c.19G>A |
p.Ala7Thr |
Missense |
1/5 |
- |
2-237997288-A-G |
COPS8 |
c.190A>G |
p.Ile64Val |
Missense |
3/8 |
- |
11-68777323-T-C |
MRGPRF |
c.47A>G |
p.Lys16Arg |
Missense |
2/3 |
- |
19-44128304-A-G |
CADM4 |
c.1019T>C |
p.Val340Ala |
Missense |
8/9 |
- |
17-48618243-C-T |
EPN3 |
c.1069C>T |
p.Arg357* |
Nonsense |
7/10 |
- |
1-240370313-G-T |
FMN2 |
c.2201G>T |
p.Arg734Leu |
Missense |
5/18 |
- |
1-240370313-G-A |
FMN2 |
c.2201G>A |
p.Arg734Gln |
Missense |
5/18 |
- |
16-81050965-A-C |
CENPN |
c.252A>C |
p.Glu84Asp |
Missense |
4/7 |
- |
6-18139201-G-T |
TPMT |
c.487C>A |
p.Arg163Ser |
Missense |
6/9 |
- |
1-169519112-C-T |
F5 |
c.1538G>A |
p.Arg513Lys |
Missense |
10/25 |
- |
9-130224593-A-G |
LRSAM1 |
c.469A>G |
p.Ile157Val |
Missense |
8/25 |
- |
8-94738629-G-A |
FAM92A |
c.665G>A |
p.Arg222Gln |
Missense |
8/9 |
- |
19-42410924-C-A |
ARHGEF1 |
c.2770C>A |
p.Pro924Thr |
Missense |
28/29 |
- |
1-182544687-G-A |
RNASEL |
c.2066C>T |
p.Ser689Phe |
Missense |
7/7 |
- |
17-641131-G-A |
FAM57A |
c.252G>A |
p.Met84Ile |
Missense |
3/5 |
- |
2-201736166-A-C |
PPIL3 |
c.450T>G |
p.Asp150Glu |
Missense |
7/7 |
- |
11-65360925-G-A |
KCNK7 |
c.740C>T |
p.Ala247Val |
Missense |
2/2 |
- |
12-113409176-G-A |
OAS3 |
c.*1398G>A |
- |
3-UTRSNV |
16/16 |
- |
15-45434309-G-A |
DUOX1 |
c.1821G>A |
p.Leu607Leu |
Synonymous |
16/35 |
- |
11-124742934-C-A |
ROBO3 |
c.1485C>A |
p.Asp495Glu |
Missense |
9/28 |
- |
1-155025945-A-G |
ADAM15 |
c.239A>G |
p.His80Arg |
Missense |
3/21 |
- |
8-16035502-C-T |
MSR1 |
c.1-5G>A |
- |
IntronicSNV |
- |
1/8 |
2-238881817-C-G |
UBE2F |
c.68C>G |
p.Ala23Gly |
Missense |
2/10 |
- |
2-238881817-C-T |
UBE2F |
c.68C>T |
p.Ala23Val |
Missense |
2/10 |
- |
1-153520235-G-A |
S100A3 |
c.229C>T |
p.Arg77Cys |
Missense |
3/3 |
- |
1-154516983-G-T |
TDRD10 |
c.787G>T |
p.Ala263Ser |
Missense |
10/13 |
- |
13-32930730-C-G |
BRCA2 |
c.7601C>G |
p.Ala2534Gly |
Missense |
15/27 |
- |
11-69631109-C-G |
FGF3 |
c.303G>C |
p.Lys101Asn |
Missense |
2/3 |
- |
19-14083761-T-A |
RFX1 |
c.1108A>T |
p.Thr370Ser |
Missense |
9/21 |
- |
10-98095688-G-A |
DNTT |
c.1400G>A |
p.Arg467Gln |
Missense |
10/11 |
- |
10-123503272-C-T |
ATE1 |
c.1480G>A |
p.Glu494Lys |
Missense |
12/12 |
- |
8-33246591-G-C |
FUT10 |
c.1102C>G |
p.Leu368Val |
Missense |
4/5 |
- |
6-116833053-T-C |
TRAPPC3L |
c.241-11224A>G |
- |
IntronicSNV |
- |
3/4 |
6-160577063-G-A |
SLC22A1 |
c.1555G>A |
p.Val519Ile |
Missense |
10/11 |
- |
6-160577063-G-T |
SLC22A1 |
c.1555G>T |
p.Val519Phe |
Missense |
10/11 |
- |
1-75693501-G-T |
SLC44A5 |
c.895C>A |
p.Arg299Ser |
Missense |
13/24 |
- |
14-52981647-T-A |
TXNDC16 |
c.556A>T |
p.Thr186Ser |
Missense |
8/21 |
- |
14-52981647-T-G |
TXNDC16 |
c.556A>C |
p.Thr186Pro |
Missense |
8/21 |
- |
10-104235679-A-G |
MFSD13A |
c.1492A>G |
p.Met498Val |
Missense |
10/10 |
- |
20-61162267-T-C |
MIR1-1HG |
c.80T>C |
p.Val27Ala |
Missense |
3/4 |
- |
3-128205754-G-A |
GATA2 |
c.121C>T |
p.Pro41Ser |
Missense |
2/6 |
- |
6-149795471-G-A |
ZC3H12D |
c.209C>T |
p.Ala70Val |
Missense |
2/6 |
- |
5-140230548-C-A |
PCDHA1 |
c.2394+62279C>A |
- |
IntronicSNV |
- |
1/3 |
11-65793343-C-T |
CATSPER1 |
c.508G>A |
p.Gly170Ser |
Missense |
1/12 |
- |
20-62187395-G-A |
FNDC11 |
c.379G>A |
p.Gly127Arg |
Missense |
2/2 |
- |
6-25855404-G-A |
SLC17A3 |
c.680C>T |
p.Thr227Ile |
Missense |
6/13 |
- |
4-106510543-A-G |
ARHGEF38 |
c.335A>G |
p.Asp112Gly |
Missense |
2/4 |
- |
1-242030355-G-A |
EXO1 |
c.1265G>A |
p.Ser422Asn |
Missense |
9/14 |
- |
6-150004616-C-T |
LATS1 |
c.1609G>A |
p.Ala537Thr |
Missense |
4/8 |
- |
17-36074979-G-A |
HNF1B |
c.1046-4308C>T |
- |
IntronicSNV |
- |
4/8 |
4-7435721-C-T |
PSAPL1 |
c.886G>A |
p.Val296Met |
Missense |
1/1 |
- |
2-172823408-C-T |
HAT1 |
c.761C>T |
p.Ala254Val |
Missense |
8/11 |
- |
11-108160350-C-T |
ATM |
c.4258C>T |
p.Leu1420Phe |
Missense |
29/63 |
- |
2-201728858-C-T |
CLK1 |
c.92G>A |
p.Arg31His |
Missense |
1/13 |
- |
X-100658972-C-G |
GLA |
c.196G>C |
p.Glu66Gln |
Missense |
2/7 |
- |
15-48559813-C-T |
SLC12A1 |
c.2210C>T |
p.Ala737Val |
Missense |
18/27 |
- |
16-25255366-G-A |
ZKSCAN2 |
c.1721C>T |
p.Ala574Val |
Missense |
6/7 |
- |
11-102585288-T-G |
MMP8 |
c.1189A>C |
p.Arg397Arg |
Synonymous |
8/10 |
- |
2-242794902-C-T |
PDCD1 |
c.307G>A |
p.Gly103Arg |
Missense |
2/5 |
- |
2-172823408-C-G |
HAT1 |
c.761C>G |
p.Ala254Gly |
Missense |
8/11 |
- |
1-202187176-G-A |
LGR6 |
c.57-7375G>A |
- |
IntronicSNV |
- |
1/17 |
5-131951780-A-G |
RAD50 |
c.3122A>G |
p.His1041Arg |
Missense |
20/25 |
- |
5-79755260-A-G |
ZFYVE16 |
c.3971A>G |
p.Asn1324Ser |
Missense |
14/18 |
- |
10-70863698-C-T |
SRGN |
c.299C>T |
p.Ser100Phe |
Missense |
3/3 |
- |
11-130784838-G-A |
SNX19 |
c.997C>T |
p.His333Tyr |
Missense |
1/11 |
- |
3-10084828-G-A |
FANCD2 |
c.983G>A |
p.Arg328Gln |
Missense |
12/44 |
- |
1-55253419-C-T |
TTC22 |
c.704G>A |
p.Arg235Gln |
Missense |
3/6 |
- |
17-74076415-G-A |
ZACN |
c.454G>A |
p.Ala152Thr |
Missense |
5/9 |
- |
20-61491494-T-G |
TCFL5 |
c.814A>C |
p.Asn272His |
Missense |
2/6 |
- |
14-50923249-C-T |
MAP4K5 |
c.1000G>A |
p.Ala334Thr |
Missense |
14/33 |
- |
1-182555767-C-T |
RNASEL |
c.175G>A |
p.Gly59Ser |
Missense |
2/7 |
- |
17-7417663-C-T |
POLR2A |
c.*167C>T |
- |
3-UTRSNV |
29/29 |
- |
2-170139387-A-C |
LRP2 |
c.1167T>G |
p.Asp389Glu |
Missense |
10/79 |
- |
1-114442885-A-G |
AP4B1 |
c.755T>C |
p.Val252Ala |
Missense |
6/11 |
- |
6-151789598-G-A |
ARMT1 |
c.679G>A |
p.Glu227Lys |
Missense |
5/5 |
- |
22-43032729-C-T |
CYB5R3 |
c.145G>A |
p.Asp49Asn |
Missense |
2/9 |
- |
4-2195009-G-A |
POLN |
c.943C>T |
p.Pro315Ser |
Missense |
7/26 |
- |
2-173431626-T-G |
PDK1 |
c.734T>G |
p.Ile245Ser |
Missense |
6/11 |
- |
1-154966093-C-T |
LENEP |
c.10C>T |
p.Arg4Trp |
Missense |
1/2 |
- |
5-118969960-C-G |
FAM170A |
c.517C>G |
p.Pro173Ala |
Missense |
3/5 |
- |
20-32162037-G-T |
CBFA2T2 |
c.35-32725G>T |
- |
IntronicSNV |
- |
1/10 |
1-185878632-A-C |
HMCN1 |
c.785A>C |
p.Asn262Thr |
Missense |
5/107 |
- |
17-685640-G-A |
MRM3 |
c.22G>A |
p.Ala8Thr |
Missense |
1/4 |
- |
17-685640-G-T |
MRM3 |
c.22G>T |
p.Ala8Ser |
Missense |
1/4 |
- |
19-55451720-C-T |
NLRP7 |
c.467G>A |
p.Arg156Gln |
Missense |
4/11 |
- |
10-98095688-G-T |
DNTT |
c.1400G>T |
p.Arg467Leu |
Missense |
10/11 |
- |
1-201860626-A-G |
SHISA4 |
c.477A>G |
p.Ile159Met |
Missense |
4/5 |
- |
4-175846426-C-A |
ADAM29 |
c.-370+4483C>A |
- |
intron_variant |
- |
2/3 |
17-41245900-T-G |
BRCA1 |
c.1648A>C |
p.Asn550His |
Missense |
10/23 |
- |
6-30899571-C-T |
SFTA2 |
c.63G>A |
p.Gly21Gly |
Synonymous |
2/3 |
- |
6-30899571-C-G |
SFTA2 |
c.63G>C |
p.Gly21Gly |
Synonymous |
2/3 |
- |
1-185878632-A-G |
HMCN1 |
c.785A>G |
p.Asn262Ser |
Missense |
5/107 |
- |
8-16035410-C-T |
MSR1 |
c.88G>A |
p.Ala30Thr |
Missense |
2/9 |
- |
7-69806023-T-A |
AUTS2 |
c.661-94715T>A |
- |
IntronicSNV |
- |
4/17 |
9-139925490-C-T |
FUT7 |
c.701G>A |
p.Arg234His |
Missense |
2/2 |
- |
19-55451720-C-A |
NLRP7 |
c.467G>T |
p.Arg156Leu |
Missense |
4/11 |
- |
8-144942477-C-T |
EPPK1 |
c.4945G>A |
p.Val1649Ile |
Missense |
2/3 |
- |
1-201860626-A-C |
SHISA4 |
c.477A>C |
p.Ile159Ile |
Synonymous |
4/5 |
- |
6-31750532-C-G |
VARS |
c.1853G>C |
p.Arg618Pro |
Missense |
15/30 |
- |
3-141535608-C-T |
GRK7 |
c.1378C>T |
p.Pro460Ser |
Missense |
4/4 |
- |
2-85777270-G-A |
GGCX |
c.2085-21C>T |
- |
IntronicSNV |
- |
14/14 |
19-51503285-C-T |
KLK8 |
c.460G>A |
p.Val154Ile |
Missense |
4/6 |
- |
2-85777270-G-T |
GGCX |
c.2085-21C>A |
- |
IntronicSNV |
- |
14/14 |
11-20648380-G-A |
SLC6A5 |
c.1387G>A |
p.Asp463Asn |
Missense |
8/16 |
- |
16-68056703-G-A |
DDX28 |
c.403C>T |
p.Pro135Ser |
Missense |
1/1 |
- |
2-242509564-C-T |
BOK |
c.374C>T |
p.Ser125Phe |
Missense |
4/5 |
- |
17-36552190-A-G |
SOCS7 |
c.1907A>G |
- |
missense_variant |
9/10 |
- |
13-32914127-G-T |
BRCA2 |
c.5635G>T |
p.Glu1879* |
Nonsense |
11/27 |
- |
13-32914127-G-A |
BRCA2 |
c.5635G>A |
p.Glu1879Lys |
Missense |
11/27 |
- |
19-17081707-G-T |
CPAMD8 |
c.2207C>A |
- |
missense_variant |
18/42 |
- |
11-108188136-G-A |
ATM |
c.6235G>A |
p.Val2079Ile |
Missense |
43/63 |
- |
11-1955200-C-T |
TNNT3 |
c.328C>T |
p.Arg110Cys |
Missense |
11/16 |
- |
19-41893502-G-A |
EXOSC5 |
c.532C>T |
p.Arg178Trp |
Missense |
5/6 |
- |
12-65810174-T-C |
MSRB3 |
c.314-37334T>C |
- |
IntronicSNV |
- |
4/5 |
12-65810174-T-A |
MSRB3 |
c.314-37334T>A |
- |
IntronicSNV |
- |
4/5 |
11-121485599-T-A |
SORL1 |
c.5439T>A |
p.His1813Gln |
Missense |
41/48 |
- |
6-31939823-G-A |
STK19 |
c.50G>A |
p.Trp17* |
Nonsense |
1/8 |
- |
8-101196856-G-C |
SPAG1 |
c.596G>C |
p.Gly199Ala |
Missense |
7/19 |
- |
3-5024734-T-C |
BHLHE40 |
c.596T>C |
p.Met199Thr |
Missense |
5/5 |
- |
20-61288392-C-G |
SLCO4A1 |
c.586C>G |
p.Arg196Gly |
Missense |
2/12 |
- |
20-61288392-C-T |
SLCO4A1 |
c.586C>T |
p.Arg196Cys |
Missense |
2/12 |
- |
5-57790693-A-G |
GAPT |
c.330A>G |
p.Glu110Glu |
Synonymous |
3/3 |
- |
15-51975608-G-A |
SCG3 |
c.374G>A |
p.Ser125Asn |
Missense |
4/12 |
- |
5-57790693-A-T |
GAPT |
c.330A>T |
p.Glu110Asp |
Missense |
3/3 |
- |
6-116948871-C-A |
RSPH4A |
c.1001C>A |
p.Thr334Lys |
Missense |
3/6 |
- |
11-68853389-A-G |
TPCN2 |
c.1994A>G |
p.Tyr665Cys |
Missense |
22/25 |
- |
6-31106499-G-A |
PSORS1C1 |
c.110G>A |
p.Arg37His |
Missense |
5/6 |
- |
2-70052624-G-A |
ANXA4 |
c.943G>A |
p.Val315Ile |
Missense |
13/13 |
- |
6-154412236-C-T |
OPRM1 |
c.793C>T |
p.Arg265Cys |
Missense |
3/4 |
- |
2-173427009-G-A |
PDK1 |
c.400G>A |
p.Ala134Thr |
Missense |
3/11 |
- |
3-27490159-C-T |
SLC4A7 |
c.245G>A |
p.Arg82Gln |
Missense |
3/25 |
- |
16-23647467-C-T |
PALB2 |
c.400G>A |
p.Asp134Asn |
Missense |
4/13 |
- |
22-36538399-T-C |
APOL3 |
c.1-543A>G |
- |
IntronicSNV |
- |
2/4 |
11-108141983-T-C |
ATM |
c.2927T>C |
p.Val976Ala |
Missense |
20/63 |
- |
4-70460328-C-G |
UGT2A2 |
c.1198G>C |
p.Val400Leu |
Missense |
5/6 |
- |
10-103920344-G-T |
NOLC1 |
c.1235G>T |
p.Gly412Val |
Missense |
10/13 |
- |
11-68748425-C-G |
MRGPRD |
c.31G>C |
p.Val11Leu |
Missense |
1/1 |
- |
13-111294796-C-T |
CARS2 |
c.1489G>A |
p.Val497Ile |
Missense |
14/15 |
- |
1-21051116-G-A |
SH2D5 |
c.403C>T |
p.His135Tyr |
Missense |
6/10 |
- |
8-25708131-C-T |
EBF2 |
c.1675G>A |
p.Gly559Ser |
Missense |
15/16 |
- |
6-167366030-G-C |
RNASET2 |
c.93C>G |
p.Asn31Lys |
Missense |
2/9 |
- |
9-22451686-A-G |
DMRTA1 |
c.1291A>G |
p.Arg431Gly |
Missense |
2/2 |
- |
17-59821814-T-C |
BRIP1 |
c.2236A>G |
p.Ile746Val |
Missense |
15/20 |
- |
2-70052624-G-T |
ANXA4 |
c.943G>T |
p.Val315Phe |
Missense |
13/13 |
- |
20-61386115-G-A |
NTSR1 |
c.793G>A |
p.Val265Ile |
Missense |
2/4 |
- |
20-61386115-G-C |
NTSR1 |
c.793G>C |
p.Val265Leu |
Missense |
2/4 |
- |
13-32953549-G-A |
BRCA2 |
c.8850G>A |
p.Lys2950Lys |
Synonymous |
22/27 |
- |
13-32953549-G-T |
BRCA2 |
c.8850G>T |
p.Lys2950Asn |
Missense |
22/27 |
- |
13-95899303-G-C |
ABCC4 |
c.232C>G |
p.Pro78Ala |
Missense |
3/31 |
- |
8-29990075-C-A |
MBOAT4 |
c.692G>T |
p.Gly231Val |
Missense |
3/3 |
- |
9-134386781-G-A |
POMT1 |
c.979G>A |
p.Val327Ile |
Missense |
10/20 |
- |
11-20648364-G-C |
SLC6A5 |
c.1371G>C |
p.Lys457Asn |
Missense |
8/16 |
- |
10-5415798-G-A |
UCN3 |
c.115G>A |
p.Ala39Thr |
Missense |
2/2 |
- |
12-57809456-C-T |
R3HDM2 |
c.-106+15047G>A |
- |
intron_variant |
- |
1/23 |
1-156641200-T-A |
NES |
c.2780A>T |
p.Glu927Val |
Missense |
4/4 |
- |
12-49230563-T-C |
DDX23 |
c.1025A>G |
p.Lys342Arg |
Missense |
10/17 |
- |
2-173354358-A-G |
ITGA6 |
c.2651A>G |
p.Gln884Arg |
Missense |
20/26 |
- |
19-51535237-C-T |
KLK12 |
c.352G>A |
p.Val118Ile |
Missense |
4/7 |
- |
10-81113515-G-A |
PPIF |
c.541G>A |
p.Val181Met |
Missense |
6/6 |
- |
12-48538908-G-A |
PFKM |
c.2087G>A |
p.Arg696His |
Missense |
21/23 |
- |
22-29621477-C-T |
EMID1 |
c.403+272C>T |
- |
IntronicSNV |
- |
4/14 |
6-13365763-C-G |
GFOD1 |
c.385G>C |
p.Val129Leu |
Missense |
2/2 |
- |
4-106395144-T-C |
PPA2 |
c.64A>G |
p.Thr22Ala |
Missense |
1/12 |
- |
17-36478028-G-C |
MRPL45 |
c.680G>C |
p.Arg227Pro |
Missense |
7/8 |
- |
22-36537725-G-A |
APOL3 |
c.132C>T |
p.Tyr44Tyr |
Synonymous |
5/5 |
- |
11-108198391-T-G |
ATM |
c.6995T>G |
p.Leu2332Arg |
Missense |
48/63 |
- |
17-673330-T-G |
GLOD4 |
c.698A>C |
p.Asp233Ala |
Missense |
7/9 |
- |
17-673330-T-C |
GLOD4 |
c.698A>G |
p.Asp233Gly |
Missense |
7/9 |
- |
21-43187167-G-C |
RIPK4 |
c.35C>G |
p.Ala12Gly |
Missense |
1/8 |
- |
3-113375077-T-C |
USF3 |
c.5452A>G |
p.Ser1818Gly |
Missense |
7/7 |
- |
18-24441163-G-T |
AQP4 |
c.544C>A |
p.Arg182Arg |
Synonymous |
3/5 |
- |
14-37051584-G-A |
NKX2-8 |
c.11C>T |
p.Ser4Phe |
Missense |
1/2 |
- |
14-37051584-G-C |
NKX2-8 |
c.11C>G |
p.Ser4Cys |
Missense |
1/2 |
- |
10-93668677-A-C |
FGFBP3 |
c.50T>G |
p.Leu17Arg |
Missense |
2/2 |
- |
19-17170885-C-T |
HAUS8 |
c.244G>A |
p.Gly82Arg |
Missense |
5/11 |
- |
19-17170885-C-A |
HAUS8 |
c.244G>T |
p.Gly82* |
Nonsense |
5/11 |
- |
19-17170885-C-G |
HAUS8 |
c.244G>C |
p.Gly82Arg |
Missense |
5/11 |
- |
6-31691508-G-A |
MPIG6B |
c.154G>A |
p.Ala52Thr |
Missense |
2/6 |
- |
12-110390979-T-C |
GIT2 |
c.1160A>G |
p.Asn387Ser |
Missense |
13/20 |
- |
17-12915009-G-C |
ELAC2 |
c.560-1021C>G |
- |
IntronicSNV |
- |
6/22 |
3-52852538-G-A |
ITIH4 |
c.2092C>T |
p.Pro698Ser |
Missense |
18/24 |
- |
3-52852538-G-T |
ITIH4 |
c.2092C>A |
p.Pro698Thr |
Missense |
18/24 |
- |
11-108117798-C-A |
ATM |
c.1009C>A |
p.Arg337Ser |
Missense |
8/63 |
- |
11-108117798-C-T |
ATM |
c.1009C>T |
p.Arg337Cys |
Missense |
8/63 |
- |
19-40901011-G-A |
PRX |
c.*3453C>T |
- |
3-UTRSNV |
6/6 |
- |
19-40901011-G-T |
PRX |
c.*3453C>A |
- |
3-UTRSNV |
6/6 |
- |
12-42863262-A-G |
PRICKLE1 |
c.374T>C |
p.Val125Ala |
Missense |
4/8 |
- |
7-45125700-C-G |
NACAD |
c.79G>C |
p.Asp27His |
Missense |
2/8 |
- |
17-33313129-C-T |
LIG3 |
c.670C>T |
p.Arg224Trp |
Missense |
3/20 |
- |
21-44293744-C-G |
WDR4 |
c.213G>C |
p.Lys71Asn |
Missense |
3/11 |
- |
10-114925675-T-C |
TCF7L2 |
c.1735T>C |
p.Ser579Pro |
Missense |
14/14 |
- |
18-74155000-T-C |
ZNF516 |
c.11A>G |
p.Asn4Ser |
Missense |
3/8 |
- |
9-101533220-C-G |
ANKS6 |
c.1930G>C |
p.Val644Leu |
Missense |
10/15 |
- |
9-101533220-C-T |
ANKS6 |
c.1930G>A |
p.Val644Ile |
Missense |
10/15 |
- |
17-47299454-C-T |
ABI3 |
c.804C>T |
p.Asp268Asp |
Synonymous |
7/8 |
- |
11-102713560-G-A |
MMP3 |
c.193C>T |
p.Arg65* |
Nonsense |
2/10 |
- |
17-59885956-G-A |
BRIP1 |
c.790C>T |
p.Arg264Trp |
Missense |
7/20 |
- |
11-65810612-G-A |
GAL3ST3 |
c.662C>T |
p.Ala221Val |
Missense |
3/3 |
- |
11-65978707-G-A |
PACS1 |
c.637G>A |
p.Val213Met |
Missense |
4/24 |
- |
5-1219647-T-C |
SLC6A19 |
c.1406T>C |
p.Ile469Thr |
Missense |
10/12 |
- |
2-20647604-T-G |
RHOB |
c.378T>G |
p.His126Gln |
Missense |
1/1 |
- |
10-52005040-C-T |
ASAH2 |
c.302G>A |
p.Gly101Asp |
Missense |
2/20 |
- |
12-30906358-G-A |
CAPRIN2 |
c.340C>T |
p.Pro114Ser |
Missense |
1/17 |
- |
19-18054132-G-C |
CCDC124 |
c.412G>C |
p.Glu138Gln |
Missense |
4/5 |
- |
1-67822377-A-G |
IL12RB2 |
c.1258+5605A>G |
- |
IntronicSNV |
- |
9/15 |
8-134072363-G-T |
SLA |
c.43C>A |
p.Pro15Thr |
Missense |
3/9 |
- |
16-81076959-A-C |
ATMIN |
c.856A>C |
p.Thr286Pro |
Missense |
4/4 |
- |
16-81076959-A-G |
ATMIN |
c.856A>G |
p.Thr286Ala |
Missense |
4/4 |
- |
11-55563035-A-G |
OR5D14 |
c.4A>G |
p.Met2Val |
Missense |
1/1 |
- |
11-89875437-G-A |
NAALAD2 |
c.195-5061G>A |
- |
IntronicSNV |
- |
2/18 |
12-6128454-G-A |
VWF |
c.4130C>T |
p.Ala1377Val |
Missense |
28/52 |
- |
1-204379758-C-T |
PPP1R15B |
c.782G>A |
p.Arg261Lys |
Missense |
1/2 |
- |
1-159858278-G-T |
CFAP45 |
c.281C>A |
p.Thr94Lys |
Missense |
4/12 |
- |
12-114395678-G-C |
RBM19 |
c.749C>G |
p.Thr250Ser |
Missense |
6/24 |
- |
10-5567247-C-T |
CALML3 |
c.199C>T |
p.Pro67Ser |
Missense |
1/1 |
- |
3-111799867-G-A |
TMPRSS7 |
c.2090G>A |
p.Gly697Asp |
Missense |
16/16 |
- |
3-111799867-G-C |
TMPRSS7 |
c.2090G>C |
p.Gly697Ala |
Missense |
16/16 |
- |
11-69456169-G-T |
CCND1 |
c.88G>T |
p.Ala30Ser |
Missense |
1/5 |
- |
11-69456169-G-A |
CCND1 |
c.88G>A |
p.Ala30Thr |
Missense |
1/5 |
- |
17-260299-G-A |
C17orf97 |
c.166G>A |
p.Glu56Lys |
Missense |
1/2 |
- |
19-49377085-G-A |
PPP1R15A |
c.595G>A |
p.Val199Ile |
Missense |
2/3 |
- |
10-51556831-G-A |
MSMB |
c.190G>A |
p.Glu64Lys |
Missense |
3/4 |
- |
20-62198324-G-A |
HELZ2 |
c.2387C>T |
p.Ala796Val |
Missense |
7/20 |
- |
17-46929908-T-C |
CALCOCO2 |
c.743T>C |
p.Val248Ala |
Missense |
8/13 |
- |
12-58017860-G-A |
B4GALNT1 |
c.*2667C>T |
- |
IntergenicSNV |
11/11 |
- |
14-101348572-C-T |
RTL1 |
c.2554G>A |
p.Ala852Thr |
Missense |
1/1 |
- |
7-1484418-T-C |
MICALL2 |
c.1288A>G |
p.Thr430Ala |
Missense |
6/17 |
- |
8-126267630-T-G |
NSMCE2 |
c.418+73132T>G |
- |
IntronicSNV |
- |
5/7 |
19-49954807-T-G |
PIH1D1 |
c.25A>C |
p.Met9Leu |
Missense |
1/9 |
- |
1-182555062-T-C |
RNASEL |
c.880A>G |
p.Lys294Glu |
Missense |
2/7 |
- |
7-27159136-G-C |
HOXA3 |
c.-122C>G |
- |
splice_region_variant,5_prime_UTR_variant |
1/3 |
- |
17-59761029-T-C |
BRIP1 |
c.3378A>G |
p.Glu1126Glu |
Synonymous |
20/20 |
- |
15-48734008-C-A |
FBN1 |
c.6073G>T |
p.Ala2025Ser |
Missense |
50/66 |
- |
2-219756383-C-G |
WNT10A |
c.757-1113C>G |
- |
IntronicSNV |
- |
3/3 |
1-46049849-G-C |
NASP |
c.31G>C |
p.Val11Leu |
Missense |
1/15 |
- |
1-46049849-G-A |
NASP |
c.31G>A |
p.Val11Ile |
Missense |
1/15 |
- |
11-93469892-G-C |
TAF1D |
c.661C>G |
p.Leu221Val |
Missense |
5/6 |
- |
15-40265799-A-G |
EIF2AK4 |
c.1667A>G |
p.Glu556Gly |
Missense |
11/39 |
- |
19-18710506-C-G |
CRLF1 |
c.266G>C |
p.Arg89Pro |
Missense |
2/9 |
- |
5-1065399-C-T |
SLC12A7 |
c.2436G>A |
p.Val812Val |
Synonymous |
18/24 |
- |
3-17349498-T-C |
TBC1D5 |
c.1124A>G |
p.Tyr375Cys |
Missense |
14/22 |
- |
12-49361925-C-T |
WNT10B |
c.515G>A |
p.Ser172Asn |
Missense |
4/5 |
- |
1-204978703-C-T |
NFASC |
c.3308C>T |
p.Ala1103Val |
Missense |
28/30 |
- |
11-66062546-C-T |
TMEM151A |
c.829C>T |
p.Arg277Cys |
Missense |
2/2 |
- |
5-131939181-G-C |
RAD50 |
c.2397G>C |
p.Gln799His |
Missense |
14/25 |
- |
6-149208145-C-T |
UST |
c.271C>T |
p.His91Tyr |
Missense |
2/8 |
- |
14-64519035-A-G |
SYNE2 |
c.8404A>G |
p.Ser2802Gly |
Missense |
48/116 |
- |
6-31864538-G-A |
EHMT2 |
c.173C>T |
p.Ser58Phe |
Missense |
3/28 |
- |
12-49745118-G-T |
DNAJC22 |
c.859G>T |
p.Gly287Trp |
Missense |
3/3 |
- |
4-74281976-G-C |
ALB |
c.1195G>C |
p.Asp399His |
Missense |
10/15 |
- |
4-74281976-G-A |
ALB |
c.1195G>A |
p.Asp399Asn |
Missense |
10/15 |
- |
22-40415323-C-T |
FAM83F |
c.641C>T |
p.Thr214Ile |
Missense |
2/5 |
- |
11-6190850-C-T |
OR52B2 |
c.707G>A |
p.Arg236Gln |
Missense |
1/1 |
- |
8-26265804-A-G |
BNIP3L |
c.523A>G |
p.Met175Val |
Missense |
5/6 |
- |
2-101023110-C-T |
CHST10 |
c.28G>A |
p.Ala10Thr |
Missense |
3/7 |
- |
19-51172526-G-C |
SHANK1 |
c.2691C>G |
p.Asp897Glu |
Missense |
23/24 |
- |
3-4742276-A-G |
ITPR1 |
c.4464+651A>G |
- |
IntronicSNV |
- |
34/57 |
20-61872136-T-C |
NKAIN4 |
c.*713A>G |
- |
3-UTRSNV |
7/7 |
- |
2-20402626-C-T |
SDC1 |
c.834G>A |
p.Met278Ile |
Missense |
6/6 |
- |
12-992587-A-G |
WNK1 |
c.3516A>G |
p.Ile1172Met |
Missense |
16/28 |
- |
19-18288540-C-G |
IFI30 |
c.656C>G |
p.Thr219Ser |
Missense |
6/7 |
- |
5-131939181-G-A |
RAD50 |
c.2397G>A |
p.Gln799Gln |
Synonymous |
14/25 |
- |
17-41244775-T-G |
BRCA1 |
c.2773A>C |
p.Ile925Leu |
Missense |
10/23 |
- |
17-41244775-T-C |
BRCA1 |
c.2773A>G |
p.Ile925Val |
Missense |
10/23 |
- |
7-144094613-G-T |
NOBOX |
c.1796C>A |
p.Pro599His |
Missense |
10/10 |
- |
9-124855059-G-T |
TTLL11 |
c.639C>A |
p.Asn213Lys |
Missense |
1/9 |
- |
6-41037832-G-A |
OARD1 |
c.226C>T |
p.Arg76* |
Nonsense |
4/6 |
- |
19-44660524-A-G |
ZNF234 |
c.355A>G |
p.Ile119Val |
Missense |
6/6 |
- |
19-44660524-A-C |
ZNF234 |
c.355A>C |
p.Ile119Leu |
Missense |
6/6 |
- |
19-8564474-G-A |
PRAM1 |
c.218C>T |
p.Pro73Leu |
Missense |
2/10 |
- |
6-167366030-G-T |
RNASET2 |
c.93C>A |
p.Asn31Lys |
Missense |
2/9 |
- |
1-182555653-T-G |
RNASEL |
c.289A>C |
p.Ile97Leu |
Missense |
2/7 |
- |
1-182555653-T-C |
RNASEL |
c.289A>G |
p.Ile97Val |
Missense |
2/7 |
- |
14-24792132-A-G |
ADCY4 |
c.2320T>C |
p.Tyr774His |
Missense |
18/25 |
- |
1-67793935-T-A |
IL12RB2 |
c.532T>A |
p.Cys178Ser |
Missense |
5/16 |
- |
6-27279805-G-A |
POM121L2 |
c.145C>T |
p.Pro49Ser |
Missense |
1/1 |
- |
1-110280921-C-T |
GSTM3 |
c.257G>A |
p.Arg86His |
Missense |
5/9 |
- |
2-152534545-T-C |
NEB |
c.3412A>G |
p.Asn1138Asp |
Missense |
33/150 |
- |
6-109748082-C-T |
PPIL6 |
c.599G>A |
p.Arg200Gln |
Missense |
5/9 |
- |
11-6898587-C-A |
OR10A4 |
c.709C>A |
p.Gln237Lys |
Missense |
1/1 |
- |
11-6898587-C-G |
OR10A4 |
c.709C>G |
p.Gln237Glu |
Missense |
1/1 |
- |
5-158139228-C-T |
EBF1 |
c.1483G>A |
p.Ala495Thr |
Missense |
14/16 |
- |
4-39083586-G-A |
KLHL5 |
c.707G>A |
p.Arg236His |
Missense |
5/12 |
- |
1-154401780-C-T |
IL6R |
c.194C>T |
p.Pro65Leu |
Missense |
2/10 |
- |
3-113666020-G-C |
GRAMD1C |
c.*1695G>C |
- |
3-UTRSNV |
18/18 |
- |
1-15871023-G-A |
DNAJC16 |
c.704G>A |
p.Arg235His |
Missense |
5/15 |
- |
13-43463378-C-T |
EPSTI1 |
c.949G>A |
p.Gly317Ser |
Missense |
12/13 |
- |
20-32848309-C-A |
ASIP |
c.129C>A |
p.Asn43Lys |
Missense |
1/3 |
- |
20-55108617-C-T |
FAM209B |
c.220C>T |
p.Gln74* |
Nonsense |
1/2 |
- |
7-55221725-G-A |
EGFR |
c.769G>A |
p.Glu257Lys |
Missense |
7/28 |
- |
19-38912609-C-G |
RASGRP4 |
c.208G>C |
p.Asp70His |
Missense |
2/17 |
- |
2-144899559-C-A |
GTDC1 |
c.411G>T |
p.Met137Ile |
Missense |
6/10 |
- |
6-32084485-C-T |
ATF6B |
c.1784G>A |
p.Arg595Gln |
Missense |
16/18 |
- |
1-155233763-C-G |
CLK2 |
c.1292G>C |
p.Arg431Pro |
Missense |
12/13 |
- |
12-53167416-C-A |
KRT76 |
c.826G>T |
p.Glu276* |
Nonsense |
3/9 |
- |
6-38854645-A-G |
DNAH8 |
c.8338A>G |
p.Ile2780Val |
Missense |
57/93 |
- |
19-44514828-A-G |
ZNF230 |
c.637A>G |
p.Thr213Ala |
Missense |
5/5 |
- |
17-65717525-T-A |
NOL11 |
c.344T>A |
p.Val115Glu |
Missense |
4/18 |
- |
4-74847598-C-T |
PF4 |
c.73G>A |
p.Val25Met |
Missense |
1/3 |
- |
8-42587552-G-A |
CHRNB3 |
c.1102G>A |
p.Val368Met |
Missense |
5/6 |
- |
7-4259879-A-G |
SDK1 |
c.5678A>G |
p.Asn1893Ser |
Missense |
39/45 |
- |
1-182922215-G-T |
SHCBP1L |
c.54C>A |
p.Ser18Arg |
Missense |
1/10 |
- |
13-32937488-G-A |
BRCA2 |
c.8149G>A |
p.Ala2717Thr |
Missense |
18/27 |
- |
5-1032318-C-T |
NKD2 |
c.193C>T |
p.Pro65Ser |
Missense |
4/10 |
- |
2-7137067-A-G |
RNF144A |
c.10A>G |
p.Thr4Ala |
Missense |
3/9 |
- |
6-111695631-C-A |
REV3L |
c.3927G>T |
p.Gln1309His |
Missense |
14/33 |
- |
13-95899303-G-A |
ABCC4 |
c.232C>T |
p.Pro78Ser |
Missense |
3/31 |
- |
8-29990075-C-T |
MBOAT4 |
c.692G>A |
p.Gly231Glu |
Missense |
3/3 |
- |
13-73346905-C-T |
DIS3 |
c.1312G>A |
p.Asp438Asn |
Missense |
9/21 |
- |
10-90342837-C-T |
RNLS |
c.111G>A |
p.Glu37Glu |
Synonymous |
1/7 |
- |
17-41223091-G-A |
BRCA1 |
c.4840C>T |
p.Pro1614Ser |
Missense |
15/23 |
- |
6-38800164-G-A |
DNAH8 |
c.4255G>A |
p.Glu1419Lys |
Missense |
31/93 |
- |
17-11166786-G-A |
SHISA6 |
c.742G>A |
p.Val248Ile |
Missense |
2/6 |
- |
14-90755014-C-T |
NRDE2 |
c.2705G>A |
p.Arg902His |
Missense |
11/14 |
- |
2-242690702-G-A |
D2HGDH |
c.1039G>A |
p.Ala347Thr |
Missense |
8/10 |
- |
14-39587798-A-T |
GEMIN2 |
c.400A>T |
p.Thr134Ser |
Missense |
4/9 |
- |
6-31698714-T-A |
CLIC1 |
c.631A>T |
p.Ser211Cys |
Missense |
6/6 |
- |
11-108143299-A-G |
ATM |
c.3118A>G |
p.Met1040Val |
Missense |
21/63 |
- |
1-233122127-C-T |
PCNX2 |
c.5951G>A |
p.Arg1984Gln |
Missense |
33/34 |
- |
6-31545193-T-A |
TNF |
c.581T>A |
p.Ile194Asn |
Missense |
4/4 |
- |
1-10725413-G-A |
CASZ1 |
c.232C>T |
p.Arg78Cys |
Missense |
5/16 |
- |
3-169801858-T-C |
GPR160 |
c.98T>C |
p.Leu33Pro |
Missense |
4/4 |
- |
1-156713558-G-C |
HDGF |
c.602C>G |
p.Pro201Arg |
Missense |
5/6 |
- |
12-109994870-A-T |
MMAB |
c.716T>A |
p.Met239Lys |
Missense |
9/9 |
- |
1-156713558-G-A |
HDGF |
c.602C>T |
p.Pro201Leu |
Missense |
5/6 |
- |
11-63987441-C-G |
FERMT3 |
c.1158C>G |
p.Ser386Arg |
Missense |
10/15 |
- |
13-32893271-A-G |
BRCA2 |
c.125A>G |
p.Tyr42Cys |
Missense |
3/27 |
- |
1-154960848-G-A |
FLAD1 |
c.640G>A |
p.Gly214Arg |
Missense |
2/7 |
- |
12-23946146-C-T |
SOX5 |
c.482-37488G>A |
- |
IntronicSNV |
- |
3/14 |
11-76796077-G-C |
CAPN5 |
c.145G>C |
p.Val49Leu |
Missense |
2/13 |
- |
2-10186419-A-G |
KLF11 |
c.185A>G |
p.Gln62Arg |
Missense |
2/4 |
- |
2-10186419-A-T |
KLF11 |
c.185A>T |
p.Gln62Leu |
Missense |
2/4 |
- |
19-18895726-C-T |
COMP |
c.1894G>A |
p.Glu632Lys |
Missense |
16/19 |
- |
7-100680521-G-A |
MUC17 |
c.5824G>A |
p.Glu1942Lys |
Missense |
3/13 |
- |
6-41162566-G-T |
TREML2 |
c.382C>A |
p.Gln128Lys |
Missense |
3/5 |
- |
8-23003397-G-A |
TNFRSF10D |
c.520C>T |
p.Pro174Ser |
Missense |
5/9 |
- |
19-51535237-C-G |
KLK12 |
c.352G>C |
p.Val118Leu |
Missense |
4/7 |
- |
10-81113515-G-T |
PPIF |
c.541G>T |
p.Val181Leu |
Missense |
6/6 |
- |
5-850695-T-C |
ZDHHC11 |
c.23A>G |
p.Gln8Arg |
Missense |
1/13 |
- |
13-32907401-G-C |
BRCA2 |
c.1786G>C |
p.Asp596His |
Missense |
10/27 |
- |
1-169135127-A-C |
NME7 |
c.1098+3558T>G |
- |
IntronicSNV |
- |
11/11 |
1-182551337-A-C |
RNASEL |
c.1623T>G |
p.Asp541Glu |
Missense |
4/7 |
- |
6-31669295-A-G |
ABHD16A |
c.158-490T>C |
- |
IntronicSNV |
- |
1/17 |
6-31895973-C-G |
C2 |
c.256+32C>G |
- |
IntronicSNV |
- |
2/17 |
11-1902793-A-T |
LSP1 |
c.323A>T |
p.Gln108Leu |
Missense |
3/11 |
- |
13-32913804-G-A |
BRCA2 |
c.5312G>A |
p.Gly1771Asp |
Missense |
11/27 |
- |
17-41249283-C-T |
BRCA1 |
c.571G>A |
p.Val191Ile |
Missense |
8/23 |
- |
4-7436486-C-A |
PSAPL1 |
c.121G>T |
p.Ala41Ser |
Missense |
1/1 |
- |
10-104183604-G-A |
CUEDC2 |
c.607C>T |
p.Arg203Cys |
Missense |
7/9 |
- |
16-23635348-A-C |
PALB2 |
c.2816T>G |
p.Leu939Trp |
Missense |
8/13 |
- |
1-182554743-C-G |
RNASEL |
c.1199G>C |
p.Arg400Pro |
Missense |
2/7 |
- |
13-32907401-G-A |
BRCA2 |
c.1786G>A |
p.Asp596Asn |
Missense |
10/27 |
- |
7-6476104-G-A |
DAGLB |
c.308C>T |
p.Ala103Val |
Missense |
3/15 |
- |
19-44159722-C-T |
PLAUR |
c.476G>A |
p.Arg159His |
Missense |
5/7 |
- |
11-108158415-A-G |
ATM |
c.4082A>G |
p.Gln1361Arg |
Missense |
27/63 |
- |
13-32913690-C-T |
BRCA2 |
c.5198C>T |
p.Ser1733Phe |
Missense |
11/27 |
- |
14-64522843-A-T |
SYNE2 |
c.9926A>T |
p.His3309Leu |
Missense |
49/116 |
- |
11-108198391-T-C |
ATM |
c.6995T>C |
p.Leu2332Pro |
Missense |
48/63 |
- |
12-58112155-C-T |
OS9 |
c.1361C>T |
p.Ser454Leu |
Missense |
11/15 |
- |
11-102206865-C-T |
BIRC3 |
c.1493C>T |
p.Thr498Met |
Missense |
7/9 |
- |
4-54347978-C-T |
LNX1 |
c.1394G>A |
p.Arg465Gln |
Missense |
7/11 |
- |
19-51728621-G-A |
CD33 |
c.185G>A |
p.Arg62Gln |
Missense |
2/7 |
- |
19-39026677-G-A |
RYR1 |
c.11557G>A |
p.Glu3853Lys |
Missense |
82/106 |
- |
6-143074549-G-A |
HIVEP2 |
c.7036C>T |
p.Leu2346Phe |
Missense |
10/10 |
- |
19-18502835-G-A |
LRRC25 |
c.880C>T |
p.Pro294Ser |
Missense |
2/2 |
- |
9-110068802-C-T |
RAD23B |
c.371C>T |
p.Ala124Val |
Missense |
4/10 |
- |
2-242610773-T-A |
ATG4B |
c.1061T>A |
p.Leu354Gln |
Missense |
12/13 |
- |
3-180321090-T-G |
TTC14 |
c.465T>G |
p.Asp155Glu |
Missense |
3/12 |
- |
2-207173160-C-T |
ZDBF2 |
c.3908C>T |
p.Ala1303Val |
Missense |
5/5 |
- |
7-144074929-G-A |
ARHGEF5 |
c.4531+646G>A |
- |
IntronicSNV |
- |
13/14 |
6-36297893-C-T |
C6orf222 |
c.575G>A |
p.Arg192His |
Missense |
2/12 |
- |
1-182550385-T-C |
RNASEL |
c.1880A>G |
p.Lys627Arg |
Missense |
5/7 |
- |
19-56424443-T-C |
NLRP13 |
c.740A>G |
p.Gln247Arg |
Missense |
5/11 |
- |
19-51768620-A-G |
SIGLECL1 |
c.23-2A>G |
- |
IntronicSNV |
- |
2/5 |
20-44462924-G-A |
SNX21 |
c.106G>A |
p.Ala36Thr |
Missense |
2/4 |
- |
19-38782485-G-C |
SPINT2 |
c.427G>C |
p.Val143Leu |
Missense |
6/6 |
- |
3-125313552-G-T |
OSBPL11 |
c.93C>A |
p.Asn31Lys |
Missense |
1/13 |
- |
17-74729764-T-C |
METTL23 |
c.569T>C |
p.Leu190Pro |
Missense |
5/5 |
- |
11-108192112-T-G |
ATM |
c.6537T>G |
p.Ile2179Met |
Missense |
45/63 |
- |
6-31129616-A-G |
TCF19 |
c.631A>G |
p.Met211Val |
Missense |
3/4 |
- |
7-33139147-G-A |
RP9 |
c.184-99C>T |
- |
IntronicSNV |
- |
2/5 |
20-32265246-C-T |
E2F1 |
c.826G>A |
p.Val276Met |
Missense |
5/7 |
- |
2-179593761-T-C |
TTN |
c.15272A>G |
p.Asp5091Gly |
Missense |
62/312 |
- |
6-153441079-A-G |
RGS17 |
c.-26+11180T>C |
- |
intron_variant |
- |
1/4 |
17-41223048-A-G |
BRCA1 |
c.4883T>C |
p.Met1628Thr |
Missense |
15/23 |
- |
6-160863796-T-A |
SLC22A3 |
c.1292T>A |
p.Ile431Lys |
Missense |
8/11 |
- |
16-84270476-G-A |
KCNG4 |
c.616C>T |
p.Arg206Trp |
Missense |
2/3 |
- |
16-67037054-A-C |
CES4A |
c.772A>C |
p.Ser258Arg |
Missense |
6/12 |
- |
10-126311927-C-T |
FAM53B |
c.1153G>A |
p.Glu385Lys |
Missense |
5/5 |
- |
22-29121019-G-A |
CHEK2 |
c.667C>T |
p.Arg223Cys |
Missense |
5/16 |
- |
11-108190770-G-C |
ATM |
c.6437G>C |
p.Ser2146Thr |
Missense |
44/63 |
- |
6-161006084-G-T |
LPA |
c.4283C>A |
p.Pro1428Gln |
Missense |
26/39 |
- |
6-31525912-C-T |
NFKBIL1 |
c.670C>T |
p.Arg224Cys |
Missense |
4/4 |
- |
11-108122700-T-C |
ATM |
c.1744T>C |
p.Phe582Leu |
Missense |
11/63 |
- |
1-114948338-T-C |
TRIM33 |
c.2462A>G |
p.Asn821Ser |
Missense |
15/20 |
- |
X-135310785-T-C |
MAP7D3 |
c.1829A>G |
p.Gln610Arg |
Missense |
11/19 |
- |
12-69113390-T-C |
NUP107 |
c.1207T>C |
p.Tyr403His |
Missense |
14/28 |
- |
19-18507715-C-T |
LRRC25 |
c.59G>A |
p.Ser20Asn |
Missense |
1/2 |
- |
6-31920873-C-T |
NELFE |
c.1045+633G>A |
- |
IntronicSNV |
- |
10/10 |
1-196712596-A-T |
CFH |
c.3148A>T |
p.Asn1050Tyr |
Missense |
20/22 |
- |
8-101196856-G-A |
SPAG1 |
c.596G>A |
p.Gly199Asp |
Missense |
7/19 |
- |
17-41222975-C-T |
BRCA1 |
c.4956G>A |
p.Met1652Ile |
Missense |
15/23 |
- |
17-48628160-A-G |
SPATA20 |
c.1265A>G |
p.Lys422Arg |
Missense |
11/17 |
- |
6-167352456-C-T |
RNASET2 |
c.373G>A |
p.Val125Met |
Missense |
6/9 |
- |
20-62730147-G-A |
OPRL1 |
c.1108G>A |
p.Ala370Thr |
Missense |
5/5 |
- |
20-62607179-G-A |
SAMD10 |
c.452C>T |
p.Ala151Val |
Missense |
4/5 |
- |
19-42221607-A-G |
CEACAM5 |
c.1192A>G |
p.Lys398Glu |
Missense |
5/10 |
- |
18-7008591-T-C |
LAMA1 |
c.4018A>G |
p.Met1340Val |
Missense |
28/63 |
- |
19-18120688-G-A |
ARRDC2 |
c.689G>A |
p.Arg230Gln |
Missense |
5/8 |
- |
17-16347245-C-T |
LRRC75A |
c.576G>A |
p.Pro192Pro |
Synonymous |
3/3 |
- |
11-108196896-C-T |
ATM |
c.6919C>T |
p.Leu2307Phe |
Missense |
47/63 |
- |
11-108196896-C-G |
ATM |
c.6919C>G |
p.Leu2307Val |
Missense |
47/63 |
- |
12-14778848-G-T |
GUCY2C |
c.2251C>A |
p.Leu751Ile |
Missense |
21/27 |
- |
12-15035081-T-C |
MGP |
c.304A>G |
p.Thr102Ala |
Missense |
4/4 |
- |
11-3743046-G-A |
NUP98 |
c.2147-991C>T |
- |
IntronicSNV |
- |
16/32 |
19-17316802-G-A |
MYO9B |
c.5098G>A |
p.Val1700Met |
Missense |
32/40 |
- |
21-43187167-G-A |
RIPK4 |
c.35C>T |
p.Ala12Val |
Missense |
1/8 |
- |
13-32907000-A-T |
BRCA2 |
c.1385A>T |
p.Glu462Val |
Missense |
10/27 |
- |
17-41244100-G-A |
BRCA1 |
c.3448C>T |
p.Pro1150Ser |
Missense |
10/23 |
- |
12-109994870-A-G |
MMAB |
c.716T>C |
p.Met239Thr |
Missense |
9/9 |
- |
11-129752394-G-A |
NFRKB |
c.1109C>T |
p.Pro370Leu |
Missense |
8/25 |
- |
11-129752394-G-T |
NFRKB |
c.1109C>A |
p.Pro370His |
Missense |
8/25 |
- |
5-131925413-A-G |
RAD50 |
c.1336A>G |
p.Lys446Glu |
Missense |
9/25 |
- |
22-29121326-T-C |
CHEK2 |
c.478A>G |
p.Arg160Gly |
Missense |
4/16 |
- |
6-31614286-G-A |
BAG6 |
c.803C>T |
p.Ala268Val |
Missense |
8/25 |
- |
17-72926682-G-A |
OTOP2 |
c.952G>A |
p.Gly318Arg |
Missense |
6/7 |
- |
17-72926682-G-C |
OTOP2 |
c.952G>C |
p.Gly318Arg |
Missense |
6/7 |
- |
12-53012029-C-T |
KRT73 |
c.280G>A |
p.Val94Met |
Missense |
1/9 |
- |
3-172232682-A-G |
TNFSF10 |
c.239T>C |
p.Val80Ala |
Missense |
2/3 |
- |
13-73319139-G-A |
BORA |
c.532G>A |
p.Glu178Lys |
Missense |
8/12 |
- |
7-143632983-C-T |
OR2F2 |
c.658C>T |
p.Arg220Trp |
Missense |
1/1 |
- |
2-43937393-T-G |
PLEKHH2 |
c.2138T>G |
p.Met713Arg |
Missense |
13/30 |
- |
16-89294827-A-G |
ZNF778 |
c.2047A>G |
p.Asn683Asp |
Missense |
6/6 |
- |
15-71305225-G-A |
LRRC49 |
c.1676G>A |
p.Arg559His |
Missense |
14/16 |
- |
4-74719604-C-A |
PF4V1 |
c.205C>A |
p.His69Asn |
Missense |
2/3 |
- |
1-33292008-G-A |
S100PBP |
c.308G>A |
p.Ser103Asn |
Missense |
3/7 |
- |
19-51462454-G-A |
KLK6 |
c.701C>T |
p.Thr234Met |
Missense |
7/7 |
- |
6-31922470-G-A |
NELFE |
c.604C>T |
p.Arg202Trp |
Missense |
7/11 |
- |
6-31922470-G-C |
NELFE |
c.604C>G |
p.Arg202Gly |
Missense |
7/11 |
- |
12-15035081-T-A |
MGP |
c.304A>T |
p.Thr102Ser |
Missense |
4/4 |
- |
5-131915022-G-A |
RAD50 |
c.379G>A |
p.Val127Ile |
Missense |
4/25 |
- |
1-182550481-G-A |
RNASEL |
c.1784C>T |
p.Thr595Met |
Missense |
5/7 |
- |
12-112330774-G-A |
MAPKAPK5 |
c.1331G>A |
p.Arg444His |
Missense |
14/14 |
- |
19-51159571-T-G |
C19orf81 |
c.229T>G |
p.Ser77Ala |
Missense |
3/5 |
- |
21-35880072-G-A |
KCNE1 |
c.-162+3327C>T |
- |
intron_variant |
- |
2/3 |
17-38418816-C-T |
WIPF2 |
c.236C>T |
p.Ala79Val |
Missense |
4/8 |
- |
6-144263042-T-G |
PLAGL1 |
c.911A>C |
p.Asn304Thr |
Missense |
8/8 |
- |
2-9630538-G-A |
ADAM17 |
c.2243C>T |
p.Ala748Val |
Missense |
19/19 |
- |
12-49498284-T-C |
LMBR1L |
c.382A>G |
p.Met128Val |
Missense |
5/17 |
- |
2-220038094-G-A |
CNPPD1 |
c.668C>T |
p.Ser223Phe |
Missense |
7/8 |
- |
19-18976484-C-T |
UPF1 |
c.3134C>T |
p.Ala1045Val |
Missense |
22/24 |
- |
18-10487749-C-T |
APCDD1 |
c.1259C>T |
p.Thr420Met |
Missense |
5/5 |
- |
17-41246812-A-G |
BRCA1 |
c.736T>C |
p.Leu246Leu |
Synonymous |
10/23 |
- |
20-61919025-C-T |
ARFGAP1 |
c.1021C>T |
p.Arg341Cys |
Missense |
13/13 |
- |
6-153332860-C-G |
RGS17 |
c.482G>C |
p.Arg161Thr |
Missense |
5/5 |
- |
19-17339696-G-A |
OCEL1 |
c.757G>A |
p.Asp253Asn |
Missense |
6/6 |
- |
5-131924421-G-T |
RAD50 |
c.1094G>T |
p.Arg365Leu |
Missense |
8/25 |
- |
5-131924421-G-A |
RAD50 |
c.1094G>A |
p.Arg365Gln |
Missense |
8/25 |
- |
8-22267473-T-G |
SLC39A14 |
c.457+1464T>G |
- |
IntronicSNV |
- |
3/8 |
8-22267473-T-A |
SLC39A14 |
c.457+1464T>A |
- |
IntronicSNV |
- |
3/8 |
6-30880156-G-A |
GTF2H4 |
c.1010G>A |
p.Arg337Gln |
Missense |
11/14 |
- |
12-124092004-C-T |
DDX55 |
c.272C>T |
p.Thr91Ile |
Missense |
4/14 |
- |
13-32907413-T-C |
BRCA2 |
c.1798T>C |
p.Tyr600His |
Missense |
10/27 |
- |
13-32954261-G-T |
BRCA2 |
c.9235G>T |
p.Val3079Phe |
Missense |
24/27 |
- |
11-65632076-A-C |
MUS81 |
c.1168A>C |
p.Asn390His |
Missense |
11/16 |
- |
11-2185608-C-A |
TH |
c.1349G>T |
p.Arg450Leu |
Missense |
13/13 |
- |
10-49810977-G-T |
ARHGAP22 |
c.34+1831C>A |
- |
IntronicSNV |
- |
1/9 |
16-20975817-A-G |
DNAH3 |
c.9389T>C |
p.Ile3130Thr |
Missense |
53/62 |
- |
16-24088428-G-A |
PRKCB |
c.530-15684G>A |
- |
IntronicSNV |
- |
5/16 |
19-18724695-G-T |
TMEM59L |
c.185G>T |
p.Gly62Val |
Missense |
2/8 |
- |
17-41243509-T-C |
BRCA1 |
c.4039A>G |
p.Arg1347Gly |
Missense |
10/23 |
- |
7-36492159-A-G |
ANLN |
c.3325A>G |
p.Ile1109Val |
Missense |
24/24 |
- |
19-40901011-G-C |
PRX |
c.*3453C>G |
- |
3-UTRSNV |
6/6 |
- |
20-44511697-A-G |
ZSWIM1 |
c.466A>G |
p.Ile156Val |
Missense |
2/2 |
- |
1-155103842-T-A |
EFNA1 |
c.120T>A |
p.His40Gln |
Missense |
2/5 |
- |
15-51569410-A-G |
CYP19A1 |
c.1-34301T>C |
- |
IntronicSNV |
- |
1/9 |
6-41889553-C-T |
BYSL |
c.253C>T |
p.Arg85Cys |
Missense |
1/7 |
- |
5-172744882-C-T |
STC2 |
c.877G>A |
p.Glu293Lys |
Missense |
4/4 |
- |
4-74349158-G-A |
AFM |
c.89-500G>A |
- |
IntronicSNV |
- |
1/14 |
17-7574013-G-A |
TP53 |
c.1014C>T |
p.Phe338Phe |
Synonymous |
10/11 |
- |
17-7574013-G-C |
TP53 |
c.1014C>G |
p.Phe338Leu |
Missense |
10/11 |
- |
11-1972143-G-A |
MRPL23 |
c.32G>A |
p.Arg11Gln |
Missense |
2/5 |
- |
3-148575278-C-T |
CPB1 |
c.1016C>T |
p.Ala339Val |
Missense |
10/11 |
- |
12-15734702-C-A |
PTPRO |
c.3138C>A |
p.Asp1046Glu |
Missense |
22/26 |
- |
17-7577091-G-C |
TP53 |
c.847C>G |
p.Arg283Gly |
Missense |
8/11 |
- |
19-57723007-G-A |
ZNF264 |
c.542G>A |
p.Arg181Lys |
Missense |
4/4 |
- |
19-50926902-T-G |
SPIB |
c.380T>G |
p.Val127Gly |
Missense |
5/6 |
- |
13-33332344-C-T |
PDS5B |
c.3176C>T |
p.Ala1059Val |
Missense |
27/35 |
- |
7-97875349-C-T |
TECPR1 |
c.110G>A |
p.Arg37His |
Missense |
3/26 |
- |
22-46615880-T-A |
PPARA |
c.680T>A |
p.Val227Asp |
Missense |
6/8 |
- |
22-46615880-T-C |
PPARA |
c.680T>C |
p.Val227Ala |
Missense |
6/8 |
- |
9-27009095-T-C |
IFT74 |
c.665T>C |
p.Met222Thr |
Missense |
9/20 |
- |
9-110249590-G-A |
KLF4 |
c.1085C>T |
p.Pro362Leu |
Missense |
3/5 |
- |
19-51330951-T-C |
KLK15 |
c.164A>G |
p.His55Arg |
Missense |
2/5 |
- |
6-30993635-A-G |
MUC22 |
c.427A>G |
p.Ile143Val |
Missense |
3/5 |
- |
17-48068913-C-T |
DLX3 |
c.832G>A |
p.Gly278Arg |
Missense |
3/3 |
- |
13-73401237-G-A |
PIBF1 |
c.896G>A |
p.Arg299Gln |
Missense |
7/18 |
- |
5-131930591-A-C |
RAD50 |
c.1824A>C |
p.Lys608Asn |
Missense |
12/25 |
- |
2-85531116-C-T |
TCF7L1 |
c.757C>T |
p.Pro253Ser |
Missense |
6/12 |
- |
19-9237457-G-T |
OR7G3 |
c.170C>A |
p.Thr57Asn |
Missense |
1/1 |
- |
12-52913822-A-C |
KRT5 |
c.259T>G |
p.Phe87Val |
Missense |
1/9 |
- |
20-62737970-C-G |
NPBWR2 |
c.215G>C |
p.Arg72Thr |
Missense |
1/1 |
- |
5-173034149-T-C |
BOD1 |
c.*1148A>G |
- |
3_prime_UTR_variant |
4/4 |
- |
8-16026131-G-A |
MSR1 |
c.466C>T |
p.Leu156Phe |
Missense |
4/9 |
- |
8-32621630-C-T |
NRG1 |
c.1534C>T |
p.Arg512Trp |
Missense |
12/12 |
- |
3-52861211-A-T |
ITIH4 |
c.254T>A |
p.Ile85Asn |
Missense |
3/24 |
- |
19-19030611-G-A |
DDX49 |
c.61G>A |
p.Gly21Ser |
Missense |
1/13 |
- |
10-106025864-C-A |
GSTO1 |
c.488C>A |
p.Thr163Asn |
Missense |
5/6 |
- |
14-36783738-T-C |
MBIP |
c.551A>G |
p.Asn184Ser |
Missense |
4/9 |
- |
17-41245120-T-A |
BRCA1 |
c.2428A>T |
p.Asn810Tyr |
Missense |
10/23 |
- |
7-100634145-G-A |
MUC12 |
c.301G>A |
p.Ala101Thr |
Missense |
2/12 |
- |
19-8996460-A-C |
MUC16 |
c.41112T>G |
p.Asp13704Glu |
Missense |
61/84 |
- |
2-43638185-C-T |
THADA |
c.4059-12907G>A |
- |
IntronicSNV |
- |
28/37 |
8-29994923-G-A |
MBOAT4 |
c.344+1125C>T |
- |
IntronicSNV |
- |
2/2 |
19-2426037-C-A |
TIMM13 |
c.*909G>T |
- |
3-UTRSNV |
3/3 |
- |
16-53504536-A-T |
RBL2 |
c.2487A>T |
p.Arg829Ser |
Missense |
16/22 |
- |
2-60720757-G-A |
BCL11A |
c.386-24789C>T |
- |
IntronicSNV |
- |
2/3 |
6-75994198-T-C |
TMEM30A |
c.157A>G |
p.Ile53Val |
Missense |
1/7 |
- |
6-13616710-C-T |
NOL7 |
c.343C>T |
p.Pro115Ser |
Missense |
3/8 |
- |
14-53235651-G-A |
STYX |
c.598G>A |
p.Gly200Ser |
Missense |
10/11 |
- |
1-160000435-A-T |
PIGM |
c.1095T>A |
p.Phe365Leu |
Missense |
1/1 |
- |
7-98246958-C-T |
NPTX2 |
c.185C>T |
p.Ala62Val |
Missense |
1/5 |
- |
13-32906655-A-G |
BRCA2 |
c.1040A>G |
p.Gln347Arg |
Missense |
10/27 |
- |
13-32906655-A-C |
BRCA2 |
c.1040A>C |
p.Gln347Pro |
Missense |
10/27 |
- |
8-16026077-C-A |
MSR1 |
c.520G>T |
p.Asp174Tyr |
Missense |
4/9 |
- |
8-16026077-C-G |
MSR1 |
c.520G>C |
p.Asp174His |
Missense |
4/9 |
- |
8-16026077-C-T |
MSR1 |
c.520G>A |
p.Asp174Asn |
Missense |
4/9 |
- |
5-44813268-A-G |
MRPS30 |
c.914A>G |
p.Lys305Arg |
Missense |
4/5 |
- |
1-26299050-G-A |
PAFAH2 |
c.1083C>T |
p.Leu361Leu |
Synonymous |
10/11 |
- |
17-59924572-G-A |
BRIP1 |
c.517C>T |
p.Arg173Cys |
Missense |
6/20 |
- |
1-154966093-C-A |
LENEP |
c.10C>A |
p.Arg4Arg |
Synonymous |
1/2 |
- |
2-44053544-G-C |
ABCG5 |
c.751C>G |
p.Gln251Glu |
Missense |
6/13 |
- |
2-44053544-G-A |
ABCG5 |
c.751C>T |
p.Gln251* |
Nonsense |
6/13 |
- |
2-44053544-G-T |
ABCG5 |
c.751C>A |
p.Gln251Lys |
Missense |
6/13 |
- |
15-91525048-C-A |
PRC1 |
c.431G>T |
p.Ser144Ile |
Missense |
4/15 |
- |
15-91525048-C-G |
PRC1 |
c.431G>C |
p.Ser144Thr |
Missense |
4/15 |
- |
15-91525048-C-T |
PRC1 |
c.431G>A |
p.Ser144Asn |
Missense |
4/15 |
- |
13-32937521-G-A |
BRCA2 |
c.8182G>A |
p.Val2728Ile |
Missense |
18/27 |
- |
2-85868133-G-A |
USP39 |
c.1319G>A |
p.Arg440His |
Missense |
10/13 |
- |
11-108160516-A-G |
ATM |
c.4424A>G |
p.Tyr1475Cys |
Missense |
29/63 |
- |
19-18499119-C-G |
GDF15 |
c.301C>G |
p.Leu101Val |
Missense |
2/2 |
- |
6-31750532-C-T |
VARS |
c.1853G>A |
p.Arg618Gln |
Missense |
15/30 |
- |
12-70949014-G-T |
PTPRB |
c.5069C>A |
p.Thr1690Asn |
Missense |
20/34 |
- |
16-847033-C-G |
CHTF18 |
c.2674C>G |
p.Pro892Ala |
Missense |
20/22 |
- |
11-68748425-C-T |
MRGPRD |
c.31G>A |
p.Val11Met |
Missense |
1/1 |
- |
5-131915179-T-C |
RAD50 |
c.536T>C |
p.Ile179Thr |
Missense |
4/25 |
- |
2-110959008-T-G |
NPHP1 |
c.133A>C |
p.Ile45Leu |
Missense |
2/20 |
- |
20-43851523-G-A |
SEMG2 |
c.1250G>A |
p.Arg417His |
Missense |
2/3 |
- |
2-110959008-T-C |
NPHP1 |
c.133A>G |
p.Ile45Val |
Missense |
2/20 |
- |
19-51412072-C-G |
KLK4 |
c.238G>C |
p.Gly80Arg |
Missense |
3/5 |
- |
19-51412072-C-T |
KLK4 |
c.238G>A |
p.Gly80Arg |
Missense |
3/5 |
- |
16-23646617-G-T |
PALB2 |
c.1250C>A |
p.Ser417Tyr |
Missense |
4/13 |
- |
8-133899575-G-A |
TG |
c.1958G>A |
p.Gly653Asp |
Missense |
9/48 |
- |
6-109321804-G-A |
SESN1 |
c.619C>T |
p.Pro207Ser |
Missense |
4/10 |
- |
17-78032753-C-T |
CCDC40 |
c.1414C>T |
p.Arg472Trp |
Missense |
9/18 |
- |
20-61910270-G-A |
ARFGAP1 |
c.550G>A |
p.Val184Met |
Missense |
7/13 |
- |
20-61910270-G-C |
ARFGAP1 |
c.550G>C |
p.Val184Leu |
Missense |
7/13 |
- |
7-100692224-C-G |
MUC17 |
c.12634C>G |
p.Gln4212Glu |
Missense |
5/13 |
- |
4-77053834-T-C |
NUP54 |
c.605A>G |
p.Asn202Ser |
Missense |
5/11 |
- |
4-153690842-T-G |
TIGD4 |
c.1315A>C |
p.Ile439Leu |
Missense |
2/2 |
- |
4-153690842-T-C |
TIGD4 |
c.1315A>G |
p.Ile439Val |
Missense |
2/2 |
- |
17-41223240-A-G |
BRCA1 |
c.4691T>C |
p.Leu1564Pro |
Missense |
15/23 |
- |
6-31935567-G-A |
SKIV2L |
c.2659G>A |
p.Asp887Asn |
Missense |
22/28 |
- |
6-31935567-G-T |
SKIV2L |
c.2659G>T |
p.Asp887Tyr |
Missense |
22/28 |
- |
20-62328428-G-A |
TNFRSF6B |
c.308G>A |
p.Arg103Gln |
Missense |
1/3 |
- |
6-31237124-T-C |
HLA-C |
c.1087A>G |
p.Thr363Ala |
Missense |
7/8 |
- |
6-31237124-T-G |
HLA-C |
c.1087A>C |
p.Thr363Pro |
Missense |
7/8 |
- |
11-1977552-G-A |
MRPL23 |
c.364G>A |
p.Ala122Thr |
Missense |
5/5 |
- |
16-58577467-C-A |
CNOT1 |
c.4434+44G>T |
- |
IntronicSNV |
- |
31/48 |
17-505105-T-C |
VPS53 |
c.1061A>G |
p.Asn354Ser |
Missense |
11/18 |
- |
4-175649798-C-T |
GLRA3 |
c.319G>A |
p.Ala107Thr |
Missense |
4/9 |
- |
7-27159136-G-A |
HOXA3 |
c.-122C>T |
- |
splice_region_variant,5_prime_UTR_variant |
1/3 |
- |
2-219756383-C-T |
WNT10A |
c.757-1113C>T |
- |
IntronicSNV |
- |
3/3 |
9-130286044-C-T |
FAM129B |
c.503G>A |
p.Arg168His |
Missense |
5/14 |
- |
13-32945172-A-C |
BRCA2 |
c.8567A>C |
p.Glu2856Ala |
Missense |
20/27 |
- |
10-90342837-C-G |
RNLS |
c.111G>C |
p.Glu37Asp |
Missense |
1/7 |
- |
12-96370247-G-A |
HAL |
c.1169C>T |
p.Pro390Leu |
Missense |
19/20 |
- |
5-158244083-C-T |
EBF1 |
c.778+6101G>A |
- |
IntronicSNV |
- |
8/15 |
6-153043035-G-A |
MYCT1 |
c.355G>A |
p.Gly119Ser |
Missense |
2/2 |
- |
6-1395062-G-A |
FOXF2 |
c.1303G>A |
p.Val435Ile |
Missense |
2/2 |
- |
6-31743959-G-A |
VWA7 |
c.295C>T |
p.Arg99Trp |
Missense |
3/17 |
- |
19-16908639-C-T |
NWD1 |
c.3401C>T |
p.Ala1134Val |
Missense |
16/19 |
- |
12-82102854-G-A |
PPFIA2 |
c.250-32231C>T |
- |
IntronicSNV |
- |
2/30 |
22-40140181-C-T |
ENTHD1 |
c.1327G>A |
p.Gly443Arg |
Missense |
7/7 |
- |
20-61867782-G-T |
BIRC7 |
c.334G>T |
p.Gly112Cys |
Missense |
1/7 |
- |
20-61867782-G-A |
BIRC7 |
c.334G>A |
p.Gly112Ser |
Missense |
1/7 |
- |
3-44871505-A-T |
KIF15 |
c.2986A>T |
p.Thr996Ser |
Missense |
25/35 |
- |
11-2424090-C-T |
TSSC4 |
c.227C>T |
p.Thr76Met |
Missense |
3/3 |
- |
X-9693808-A-G |
GPR143 |
c.1193T>C |
p.Leu398Pro |
Missense |
9/9 |
- |
3-47447473-C-A |
PTPN23 |
c.483C>A |
p.Phe161Leu |
Missense |
6/25 |
- |
3-47447473-C-T |
PTPN23 |
c.483C>T |
p.Phe161Phe |
Synonymous |
6/25 |
- |
X-135313034-T-G |
MAP7D3 |
c.1451A>C |
p.Glu484Ala |
Missense |
9/19 |
- |
2-43452618-C-T |
ZFP36L2 |
c.325G>A |
p.Gly109Ser |
Missense |
2/2 |
- |
13-32903597-TC-CT |
BRCA2 |
c.649_650delTCinsCT |
p.Ser217Leu |
Missense |
8/27 |
- |
8-23294645-A-C |
ENTPD4 |
c.1176T>G |
p.Phe392Leu |
Missense |
10/13 |
- |
19-9237622-T-C |
OR7G3 |
c.5A>G |
p.Lys2Arg |
Missense |
1/1 |
- |
5-56219389-C-T |
MIER3 |
c.1216G>A |
p.Val406Ile |
Missense |
13/13 |
- |
13-32913804-G-T |
BRCA2 |
c.5312G>T |
p.Gly1771Val |
Missense |
11/27 |
- |
12-53088475-G-C |
KRT77 |
c.1015C>G |
p.Arg339Gly |
Missense |
5/9 |
- |
12-53088475-G-A |
KRT77 |
c.1015C>T |
p.Arg339Trp |
Missense |
5/9 |
- |
10-5435683-G-A |
TUBAL3 |
c.1138C>T |
p.Arg380Trp |
Missense |
4/4 |
- |
10-5435683-G-C |
TUBAL3 |
c.1138C>G |
p.Arg380Gly |
Missense |
4/4 |
- |
17-47656000-C-T |
NXPH3 |
c.97C>T |
p.Pro33Ser |
Missense |
2/2 |
- |
13-32915295-G-A |
BRCA2 |
c.6803G>A |
p.Arg2268Lys |
Missense |
11/27 |
- |
6-152534783-A-C |
SYNE1 |
c.22458T>G |
p.Asn7486Lys |
Missense |
123/146 |
- |
12-15734702-C-T |
PTPRO |
c.3138C>T |
p.Asp1046Asp |
Synonymous |
22/26 |
- |
7-100691288-A-T |
MUC17 |
c.12427A>T |
p.Thr4143Ser |
Missense |
4/13 |
- |
2-100686486-T-C |
AFF3 |
c.53+34378A>G |
- |
IntronicSNV |
- |
3/23 |
7-97617828-G-A |
OCM2 |
c.94C>T |
p.Gln32* |
Nonsense |
2/4 |
- |
9-125589057-G-T |
PDCL |
c.10C>A |
p.Leu4Ile |
Missense |
2/4 |
- |
X-67283798-G-A |
OPHN1 |
c.2056C>T |
p.Pro686Ser |
Missense |
21/25 |
- |
10-104416647-G-A |
TRIM8 |
c.1192G>A |
p.Gly398Ser |
Missense |
6/6 |
- |
19-38817628-G-A |
KCNK6 |
c.718G>A |
p.Val240Ile |
Missense |
2/3 |
- |
3-4461747-C-T |
SUMF1 |
c.602+1G>A |
- |
IntronicSNV |
- |
4/8 |
14-60591199-A-T |
PCNX4 |
c.1608A>T |
p.Gln536His |
Missense |
8/10 |
- |
5-79809558-G-A |
FAM151B |
c.287G>A |
p.Ser96Asn |
Missense |
3/6 |
- |
5-79809558-G-T |
FAM151B |
c.287G>T |
p.Ser96Ile |
Missense |
3/6 |
- |
16-9858173-G-T |
GRIN2A |
c.3228C>A |
p.Asn1076Lys |
Missense |
14/14 |
- |
17-48600427-C-A |
MYCBPAP |
c.1385C>A |
- |
missense_variant |
11/19 |
- |
17-59876546-G-T |
BRIP1 |
c.1255C>A |
p.Arg419Arg |
Synonymous |
9/20 |
- |
19-51452357-C-T |
KLK5 |
c.350G>A |
p.Arg117His |
Missense |
4/6 |
- |
17-38068621-T-C |
GSDMB |
c.365A>G |
p.Glu122Gly |
Missense |
2/8 |
- |
5-896798-T-C |
TRIP13 |
c.277T>C |
p.Cys93Arg |
Missense |
3/13 |
- |
12-49719584-C-T |
TROAP |
c.550C>T |
p.Pro184Ser |
Missense |
5/15 |
- |
1-33361287-G-A |
TMEM54 |
c.328C>T |
p.Leu110Phe |
Missense |
4/6 |
- |
11-108198384-C-G |
ATM |
c.6988C>G |
p.Leu2330Val |
Missense |
48/63 |
- |
1-11097867-C-T |
MASP2 |
c.891G>A |
p.Ala297Ala |
Synonymous |
7/11 |
- |
8-16026115-G-T |
MSR1 |
c.482C>A |
p.Thr161Asn |
Missense |
4/9 |
- |
22-29913278-C-T |
THOC5 |
c.1567G>A |
p.Val523Met |
Missense |
16/20 |
- |
22-29913278-C-G |
THOC5 |
c.1567G>C |
p.Val523Leu |
Missense |
16/20 |
- |
12-110000193-C-T |
MMAB |
c.349-536G>A |
- |
IntronicSNV |
- |
4/8 |
12-110000193-C-G |
MMAB |
c.349-536G>C |
- |
IntronicSNV |
- |
4/8 |
10-106025864-C-T |
GSTO1 |
c.488C>T |
p.Thr163Ile |
Missense |
5/6 |
- |
11-1769085-G-A |
IFITM10 |
c.349C>T |
p.Arg117Trp |
Missense |
2/3 |
- |
8-22972282-A-G |
TNFRSF10C |
c.279A>G |
p.Ser93Ser |
Synonymous |
3/5 |
- |
4-187629770-A-G |
FAT1 |
c.1212T>C |
p.Ser404Ser |
Synonymous |
2/27 |
- |
2-71376471-G-A |
MPHOSPH10 |
c.1784G>A |
p.Arg595Gln |
Missense |
10/11 |
- |
6-74491002-G-T |
CD109 |
c.1923G>T |
p.Leu641Phe |
Missense |
17/33 |
- |
11-92703085-T-C |
MTNR1B |
c.194T>C |
p.Val65Ala |
Missense |
1/2 |
- |
5-149001551-A-C |
ARHGEF37 |
c.1261A>C |
p.Met421Leu |
Missense |
9/13 |
- |
10-104414221-A-G |
TRIM8 |
c.571-189A>G |
- |
IntronicSNV |
- |
1/5 |
19-42260579-G-A |
CEACAM6 |
c.136G>A |
p.Ala46Thr |
Missense |
2/6 |
- |
11-68840399-G-A |
TPCN2 |
c.1160G>A |
p.Gly387Asp |
Missense |
13/25 |
- |
16-3627358-C-T |
NLRC3 |
c.-377G>A |
- |
5_prime_UTR_variant |
1/21 |
- |
19-51052073-G-A |
LRRC4B |
c.23C>T |
p.Pro8Leu |
Missense |
2/3 |
- |
7-18631217-C-T |
HDAC9 |
c.611C>T |
p.Thr204Ile |
Missense |
7/13 |
- |
8-22885246-G-T |
TNFRSF10B |
c.682C>A |
p.Arg228Ser |
Missense |
7/10 |
- |
12-49218131-C-T |
CACNB3 |
c.382C>T |
p.Arg128Trp |
Missense |
4/13 |
- |
12-49218131-C-G |
CACNB3 |
c.382C>G |
p.Arg128Gly |
Missense |
4/13 |
- |
6-109480241-T-C |
CEP57L1 |
c.758T>C |
p.Ile253Thr |
Missense |
8/11 |
- |
11-107675467-C-T |
SLC35F2 |
c.761G>A |
p.Ser254Asn |
Missense |
6/8 |
- |
6-119297143-T-A |
FAM184A |
c.2522A>T |
p.His841Leu |
Missense |
12/18 |
- |
6-41303995-A-G |
NCR2 |
c.223A>G |
p.Met75Val |
Missense |
2/6 |
- |
14-53124867-C-T |
ERO1A |
c.690G>A |
p.Glu230Glu |
Synonymous |
10/16 |
- |
16-30004603-T-C |
HIRIP3 |
c.1596A>G |
p.Glu532Glu |
Synonymous |
7/7 |
- |
22-29107946-A-G |
CHEK2 |
c.872T>C |
p.Ile291Thr |
Missense |
7/16 |
- |
7-18631217-C-G |
HDAC9 |
c.611C>G |
p.Thr204Ser |
Missense |
7/13 |
- |
17-26686416-G-A |
TMEM199 |
c.364G>A |
p.Val122Ile |
Missense |
3/6 |
- |
5-1344848-A-G |
CLPTM1L |
c.109T>C |
p.Ser37Pro |
Missense |
1/17 |
- |
17-41226423-C-T |
BRCA1 |
c.4600G>A |
p.Val1534Met |
Missense |
14/23 |
- |
14-53124867-C-A |
ERO1A |
c.690G>T |
p.Glu230Asp |
Missense |
10/16 |
- |
16-23632742-C-A |
PALB2 |
c.3054G>T |
p.Glu1018Asp |
Missense |
10/13 |
- |
16-23632742-C-G |
PALB2 |
c.3054G>C |
p.Glu1018Asp |
Missense |
10/13 |
- |
16-23632742-C-T |
PALB2 |
c.3054G>A |
p.Glu1018Glu |
Synonymous |
10/13 |
- |
22-30074189-T-C |
NF2 |
c.1451T>C |
p.Met484Thr |
Missense |
14/16 |
- |
13-32971167-G-A |
BRCA2 |
c.9634G>A |
p.Gly3212Arg |
Missense |
26/27 |
- |
1-202279464-G-T |
LGR6 |
c.1390G>T |
p.Ala464Ser |
Missense |
16/18 |
- |
19-41782163-G-A |
HNRNPUL1 |
c.746G>A |
p.Ser249Asn |
Missense |
5/15 |
- |
1-94486905-C-T |
ABCA4 |
c.4909G>A |
p.Ala1637Thr |
Missense |
35/50 |
- |
17-41246062-G-T |
BRCA1 |
c.1486C>A |
p.Arg496Ser |
Missense |
10/23 |
- |
6-32168996-C-G |
NOTCH4 |
c.4037G>C |
p.Arg1346Pro |
Missense |
22/30 |
- |
22-29456467-T-C |
C22orf31 |
c.368A>G |
p.Asn123Ser |
Missense |
2/3 |
- |
2-202334688-A-G |
STRADB |
c.106A>G |
p.Thr36Ala |
Missense |
4/12 |
- |
3-113672879-G-A |
ZDHHC23 |
c.494G>A |
p.Arg165His |
Missense |
3/6 |
- |
6-31556295-G-A |
LST1 |
c.64G>A |
p.Ala22Thr |
Missense |
3/3 |
- |
1-19504062-T-C |
UBR4 |
c.2530A>G |
p.Met844Val |
Missense |
19/106 |
- |
21-33285300-G-A |
HUNK |
c.262-11480G>A |
- |
IntronicSNV |
- |
1/10 |
7-2289636-C-T |
NUDT1 |
c.297C>T |
p.Asp99Asp |
Synonymous |
3/4 |
- |
1-16255644-C-T |
SPEN |
c.2909C>T |
p.Ala970Val |
Missense |
11/15 |
- |
13-32972771-C-T |
BRCA2 |
c.10121C>T |
p.Thr3374Ile |
Missense |
27/27 |
- |
1-53377291-C-T |
ECHDC2 |
c.224G>A |
p.Arg75Gln |
Missense |
3/9 |
- |
1-236389655-C-A |
ERO1B |
c.966G>T |
p.Glu322Asp |
Missense |
12/16 |
- |
5-886744-C-G |
BRD9 |
c.796G>C |
p.Ala266Pro |
Missense |
7/16 |
- |
4-186111639-T-C |
CFAP97 |
c.712A>G |
p.Thr238Ala |
Missense |
2/5 |
- |
20-62373707-G-T |
SLC2A4RG |
c.699G>T |
p.Glu233Asp |
Missense |
6/8 |
- |
1-3412567-C-T |
MEGF6 |
c.3758G>A |
p.Arg1253His |
Missense |
30/37 |
- |
19-44303911-G-C |
LYPD5 |
c.11C>G |
p.Pro4Arg |
Missense |
2/5 |
- |
5-149900889-A-G |
NDST1 |
c.73A>G |
p.Ile25Val |
Missense |
2/15 |
- |
3-44943399-C-A |
TGM4 |
c.947C>A |
p.Thr316Asn |
Missense |
8/14 |
- |
1-3412567-C-A |
MEGF6 |
c.3758G>T |
p.Arg1253Leu |
Missense |
30/37 |
- |
19-58049931-A-G |
ZNF549 |
c.1520A>G |
p.Gln507Arg |
Missense |
3/3 |
- |
13-32971167-G-C |
BRCA2 |
c.9634G>C |
p.Gly3212Arg |
Missense |
26/27 |
- |
6-144263042-T-C |
PLAGL1 |
c.911A>G |
p.Asn304Ser |
Missense |
8/8 |
- |
5-131915574-C-T |
RAD50 |
c.572C>T |
p.Thr191Ile |
Missense |
5/25 |
- |
9-21970916-C-G |
CDKN2A |
c.442G>C |
p.Ala148Pro |
Missense |
2/3 |
- |
3-14755667-G-C |
C3orf20 |
c.1313+1G>C |
- |
IntronicSNV |
- |
8/16 |
9-113259152-T-A |
SVEP1 |
c.1743A>T |
p.Gln581His |
Missense |
8/48 |
- |
11-68480857-G-A |
TESMIN |
c.1039C>T |
p.Pro347Ser |
Missense |
8/10 |
- |
19-44039654-G-C |
ZNF575 |
c.553G>C |
p.Ala185Pro |
Missense |
4/4 |
- |
6-32168996-C-T |
NOTCH4 |
c.4037G>A |
p.Arg1346Gln |
Missense |
22/30 |
- |
13-32930730-C-A |
BRCA2 |
c.7601C>A |
p.Ala2534Glu |
Missense |
15/27 |
- |
17-41246062-G-A |
BRCA1 |
c.1486C>T |
p.Arg496Cys |
Missense |
10/23 |
- |
7-133886309-G-T |
LRGUK |
c.1824G>T |
p.Lys608Asn |
Missense |
15/20 |
- |
21-43529776-G-A |
UMODL1 |
c.1624G>A |
p.Ala542Thr |
Missense |
10/23 |
- |
11-102662140-C-T |
MMP1 |
c.1120G>A |
p.Val374Met |
Missense |
8/10 |
- |
12-12814818-C-T |
GPR19 |
c.565G>A |
p.Val189Ile |
Missense |
4/4 |
- |
8-67970243-A-G |
COPS5 |
c.507+75T>C |
- |
IntronicSNV |
- |
3/7 |
19-3589461-C-A |
GIPC3 |
c.613C>A |
p.Arg205Arg |
Synonymous |
4/6 |
- |
19-3589461-C-T |
GIPC3 |
c.613C>T |
p.Arg205Trp |
Missense |
4/6 |
- |
7-143747667-T-C |
OR2A5 |
c.173T>C |
p.Met58Thr |
Missense |
1/1 |
- |
5-38264735-A-G |
EGFLAM |
c.97+5782A>G |
- |
IntronicSNV |
- |
1/21 |
5-44809408-T-A |
MRPS30 |
c.344T>A |
p.Leu115Gln |
Missense |
1/5 |
- |
16-25753251-T-C |
HS3ST4 |
c.734+48779T>C |
- |
IntronicSNV |
- |
1/1 |
16-25753251-T-G |
HS3ST4 |
c.734+48779T>G |
- |
IntronicSNV |
- |
1/1 |
2-85893766-C-T |
SFTPB |
c.403G>A |
p.Val135Ile |
Missense |
6/12 |
- |
2-69049941-T-C |
ARHGAP25 |
c.1646T>C |
p.Met549Thr |
Missense |
9/10 |
- |
5-131925479-G-A |
RAD50 |
c.1402G>A |
p.Glu468Lys |
Missense |
9/25 |
- |
6-36867372-C-T |
C6orf89 |
c.173C>T |
p.Pro58Leu |
Missense |
2/8 |
- |
14-53173920-G-T |
PSMC6 |
c.-18G>T |
- |
5_prime_UTR_variant |
1/14 |
- |
13-32893321-C-G |
BRCA2 |
c.175C>G |
p.Pro59Ala |
Missense |
3/27 |
- |
13-32893321-C-A |
BRCA2 |
c.175C>A |
p.Pro59Thr |
Missense |
3/27 |
- |
19-42355696-C-T |
DMRTC2 |
c.1036C>T |
p.Arg346* |
Nonsense |
9/9 |
- |
6-116757751-C-G |
DSE |
c.2120C>G |
p.Ser707Cys |
Missense |
6/6 |
- |
3-4354581-G-T |
SETMAR |
c.157-1G>T |
- |
IntronicSNV |
- |
1/2 |
8-116631660-T-C |
TRPS1 |
c.665A>G |
p.Asn222Ser |
Missense |
3/7 |
- |
22-43654278-G-A |
SCUBE1 |
c.674C>T |
p.Thr225Met |
Missense |
6/22 |
- |
5-109159494-T-A |
MAN2A1 |
c.2522T>A |
p.Phe841Tyr |
Missense |
16/22 |
- |
11-102816476-T-C |
MMP13 |
c.1214A>G |
p.Tyr405Cys |
Missense |
9/10 |
- |
3-52833219-G-A |
ITIH3 |
c.789+112G>A |
- |
IntronicSNV |
- |
7/21 |
19-51957493-T-C |
SIGLEC8 |
c.1225A>G |
p.Ile409Val |
Missense |
6/7 |
- |
19-42473622-C-T |
ATP1A3 |
c.2653G>A |
p.Val885Ile |
Missense |
19/23 |
- |
6-160952816-T-C |
LPA |
c.6068A>G |
p.Tyr2023Cys |
Missense |
39/39 |
- |
9-19290794-A-C |
DENND4C |
c.721A>C |
p.Ile241Leu |
Missense |
5/32 |
- |
7-144462990-C-T |
TPK1 |
c.98G>A |
p.Arg33His |
Missense |
3/9 |
- |
2-70015245-AGA-A |
ANXA4 |
c.69_70delGA |
p.Gln23Hisfs*13 |
Frameshift |
3/13 |
- |
13-32929140-C-G |
BRCA2 |
c.7150C>G |
p.Gln2384Glu |
Missense |
14/27 |
- |
20-19951534-T-A |
RIN2 |
c.736T>A |
p.Ser246Thr |
Missense |
7/12 |
- |
15-89169738-G-A |
AEN |
c.298G>A |
p.Gly100Arg |
Missense |
2/4 |
- |
19-41869392-T-A |
B9D2 |
c.33A>T |
p.Ile11Ile |
Synonymous |
2/4 |
- |
22-43568512-C-T |
TTLL12 |
c.1390G>A |
p.Val464Met |
Missense |
10/14 |
- |
11-43911365-T-A |
ALKBH3 |
c.357T>A |
p.Thr119Thr |
Synonymous |
6/10 |
- |
12-52865517-C-G |
KRT6C |
c.756-1G>C |
- |
IntronicSNV |
- |
2/8 |
19-18650473-G-A |
FKBP8 |
c.350C>T |
p.Pro117Leu |
Missense |
3/9 |
- |
1-182554725-G-A |
RNASEL |
c.1217C>T |
p.Ser406Phe |
Missense |
2/7 |
- |
2-242615635-T-G |
DTYMK |
c.546A>C |
p.Lys182Asn |
Missense |
5/5 |
- |
11-6913073-C-T |
OR2D2 |
c.659G>A |
p.Arg220His |
Missense |
1/1 |
- |
13-32907277-T-G |
BRCA2 |
c.1662T>G |
p.Cys554Trp |
Missense |
10/27 |
- |
6-30889995-A-G |
VARS2 |
c.1909A>G |
p.Thr637Ala |
Missense |
20/30 |
- |
22-37396024-G-C |
TEX33 |
c.236C>G |
p.Ala79Gly |
Missense |
4/6 |
- |
20-50048783-G-A |
NFATC2 |
c.2543C>T |
p.Pro848Leu |
Missense |
9/11 |
- |
16-4790204-C-T |
C16orf71 |
c.327C>T |
p.Asn109Asn |
Synonymous |
4/10 |
- |
22-39996558-A-C |
CACNA1I |
c.382A>C |
p.Met128Leu |
Missense |
3/36 |
- |
17-28295809-A-G |
EFCAB5 |
c.191A>G |
p.Glu64Gly |
Missense |
4/23 |
- |
2-170090014-T-C |
LRP2 |
c.5005A>G |
p.Asn1669Asp |
Missense |
30/79 |
- |
7-97821881-T-C |
LMTK2 |
c.2104T>C |
p.Ser702Pro |
Missense |
11/14 |
- |
20-31767470-G-A |
BPIFA2 |
c.706G>A |
p.Val236Ile |
Missense |
7/9 |
- |
20-31767470-G-C |
BPIFA2 |
c.706G>C |
p.Val236Leu |
Missense |
7/9 |
- |
7-144462990-C-A |
TPK1 |
c.98G>T |
p.Arg33Leu |
Missense |
3/9 |
- |
3-46501168-A-T |
LTF |
c.185T>A |
p.Ile62Asn |
Missense |
2/17 |
- |
3-46501168-A-G |
LTF |
c.185T>C |
p.Ile62Thr |
Missense |
2/17 |
- |
11-4791111-T-C |
OR51F1 |
c.58A>G |
- |
missense_variant |
1/1 |
- |
7-122202593-C-G |
CADPS2 |
c.1336-7850G>C |
- |
IntronicSNV |
- |
7/29 |
15-79277486-C-T |
RASGRF1 |
c.3325G>A |
p.Ala1109Thr |
Missense |
24/28 |
- |
11-108100039-G-A |
ATM |
c.320G>A |
p.Cys107Tyr |
Missense |
4/63 |
- |
X-9900586-G-C |
SHROOM2 |
c.3263G>C |
p.Gly1088Ala |
Missense |
6/10 |
- |
11-129724542-C-T |
TMEM45B |
c.216C>T |
p.His72His |
Synonymous |
3/6 |
- |
11-129724542-C-A |
TMEM45B |
c.216C>A |
p.His72Gln |
Missense |
3/6 |
- |
4-73924001-T-C |
COX18 |
c.832A>G |
p.Ile278Val |
Missense |
6/6 |
- |
19-44081216-A-C |
PINLYP |
c.1-56A>C |
- |
IntronicSNV |
2/6 |
- |
19-44081216-A-G |
PINLYP |
c.1-56A>G |
- |
IntronicSNV |
2/6 |
- |
11-2181191-C-T |
INS |
c.224G>A |
p.Gly75Asp |
Missense |
3/3 |
- |
20-62333231-G-A |
ARFRP1 |
c.368C>T |
p.Ala123Val |
Missense |
6/7 |
- |
6-109285189-A-G |
ARMC2 |
c.2153-194A>G |
- |
IntronicSNV |
- |
15/17 |
5-140736146-A-G |
PCDHGA1 |
c.2421+23474A>G |
- |
IntronicSNV |
- |
1/3 |
5-140736146-A-T |
PCDHGA1 |
c.2421+23474A>T |
- |
IntronicSNV |
- |
1/3 |
1-155255611-C-A |
HCN3 |
c.1333C>A |
p.Arg445Ser |
Missense |
6/8 |
- |
1-155255611-C-T |
HCN3 |
c.1333C>T |
p.Arg445Cys |
Missense |
6/8 |
- |
11-107427713-T-C |
ALKBH8 |
c.146A>G |
p.Asn49Ser |
Missense |
3/12 |
- |
1-155448415-A-G |
ASH1L |
c.4246T>C |
p.Ser1416Pro |
Missense |
3/28 |
- |
13-32911452-A-G |
BRCA2 |
c.2960A>G |
p.Asn987Ser |
Missense |
11/27 |
- |
17-7128292-G-T |
ACADVL |
c.1844G>T |
p.Arg615Leu |
Missense |
20/20 |
- |
17-7128292-G-A |
ACADVL |
c.1844G>A |
p.Arg615Gln |
Missense |
20/20 |
- |
19-44303911-G-A |
LYPD5 |
c.11C>T |
p.Pro4Leu |
Missense |
2/5 |
- |
6-44274257-G-A |
AARS2 |
c.1162C>T |
p.Pro388Ser |
Missense |
8/22 |
- |
17-41251803-T-C |
BRCA1 |
c.536A>G |
p.Tyr179Cys |
Missense |
7/23 |
- |
19-44501481-A-G |
ZNF155 |
c.1472A>G |
p.Lys491Arg |
Missense |
5/5 |
- |
14-64496749-C-T |
SYNE2 |
c.6851C>T |
p.Ala2284Val |
Missense |
44/116 |
- |
17-59924505-A-G |
BRIP1 |
c.584T>C |
p.Leu195Pro |
Missense |
6/20 |
- |
6-134308216-C-T |
TBPL1 |
c.*38C>T |
- |
3-UTRSNV |
7/7 |
- |
1-154548331-T-C |
CHRNB2 |
c.1432T>C |
p.Phe478Leu |
Missense |
6/6 |
- |
17-78972930-G-T |
CHMP6 |
c.583G>T |
p.Ala195Ser |
Missense |
8/8 |
- |
19-48734262-C-T |
CARD8 |
c.394G>A |
p.Val132Ile |
Missense |
8/13 |
- |
19-48734262-C-A |
CARD8 |
c.394G>T |
p.Val132Phe |
Missense |
8/13 |
- |
19-48734262-C-G |
CARD8 |
c.394G>C |
p.Val132Leu |
Missense |
8/13 |
- |
3-189607152-C-A |
TP63 |
c.1531C>A |
p.Pro511Thr |
Missense |
12/14 |
- |
6-31496949-C-T |
MCCD1 |
c.158C>T |
p.Thr53Met |
Missense |
1/2 |
- |
19-438830-T-C |
SHC2 |
c.608A>G |
p.Asn203Ser |
Missense |
4/13 |
- |
15-32347464-T-C |
CHRNA7 |
c.195+24224T>C |
- |
IntronicSNV |
- |
2/9 |
9-124427373-G-T |
DAB2IP |
c.41-13584G>T |
- |
IntronicSNV |
- |
1/16 |
7-100675940-A-G |
MUC17 |
c.1243A>G |
p.Thr415Ala |
Missense |
3/13 |
- |
19-3624005-G-A |
CACTIN |
c.323C>T |
p.Ser108Leu |
Missense |
2/10 |
- |
7-97860299-G-A |
TECPR1 |
c.2256C>T |
p.His752His |
Synonymous |
15/26 |
- |
11-284328-G-C |
NLRP6 |
c.2300G>C |
p.Arg767Thr |
Missense |
6/8 |
- |
5-128302185-G-A |
SLC27A6 |
c.355G>A |
p.Val119Ile |
Missense |
2/11 |
- |
6-134308216-C-G |
TBPL1 |
c.*38C>G |
- |
3-UTRSNV |
7/7 |
- |
5-13717471-T-C |
DNAH5 |
c.12658A>G |
p.Thr4220Ala |
Missense |
73/79 |
- |
2-85836126-C-T |
C2orf68 |
c.443G>A |
p.Arg148Gln |
Missense |
4/4 |
- |
17-59761029-T-G |
BRIP1 |
c.3378A>C |
p.Glu1126Asp |
Missense |
20/20 |
- |
19-17671248-C-G |
COLGALT1 |
c.463C>G |
p.Arg155Gly |
Missense |
3/12 |
- |
17-47299454-C-A |
ABI3 |
c.804C>A |
p.Asp268Glu |
Missense |
7/8 |
- |
7-66098373-T-G |
KCTD7 |
c.256T>G |
p.Tyr86Asp |
Missense |
2/4 |
- |
9-21970916-C-A |
CDKN2A |
c.442G>T |
p.Ala148Ser |
Missense |
2/3 |
- |
20-62701627-G-A |
TCEA2 |
c.451G>A |
p.Val151Ile |
Missense |
8/11 |
- |
6-152265443-A-G |
ESR1 |
c.896A>G |
p.Lys299Arg |
Missense |
4/8 |
- |
10-126715298-C-T |
CTBP2 |
c.58+12268G>A |
- |
IntronicSNV |
- |
3/10 |
5-82985739-T-G |
HAPLN1 |
c.1-16397A>C |
- |
IntronicSNV |
- |
1/4 |
5-44365545-C-A |
FGF10 |
c.325+22915G>T |
- |
IntronicSNV |
- |
1/2 |
12-55641811-C-T |
OR6C74 |
c.740C>T |
p.Ser247Phe |
Missense |
1/1 |
- |
6-41196169-G-T |
TREML4 |
c.4G>T |
p.Ala2Ser |
Missense |
1/6 |
- |
20-60768573-C-A |
MTG2 |
c.97C>A |
p.Arg33Arg |
Synonymous |
2/7 |
- |
10-63957780-C-T |
RTKN2 |
c.1717G>A |
p.Gly573Ser |
Missense |
12/12 |
- |
11-65562693-G-T |
OVOL1 |
c.685G>T |
p.Val229Phe |
Missense |
4/4 |
- |
11-65562693-G-A |
OVOL1 |
c.685G>A |
p.Val229Ile |
Missense |
4/4 |
- |
2-44021676-C-T |
DYNC2LI1 |
c.401C>T |
p.Thr134Ile |
Missense |
6/13 |
- |
13-32906593-C-T |
BRCA2 |
c.978C>T |
p.Ser326Ser |
Synonymous |
10/27 |
- |
13-32906593-C-A |
BRCA2 |
c.978C>A |
p.Ser326Arg |
Missense |
10/27 |
- |
5-1201806-G-C |
SLC6A19 |
c.41G>C |
p.Arg14Pro |
Missense |
1/12 |
- |
5-1201806-G-A |
SLC6A19 |
c.41G>A |
p.Arg14Gln |
Missense |
1/12 |
- |
18-72997677-C-T |
TSHZ1 |
c.180C>T |
p.Ser60Ser |
Synonymous |
2/2 |
- |
6-31105891-A-G |
PSORS1C1 |
c.14-316A>G |
- |
IntronicSNV |
- |
3/5 |
16-23647199-A-G |
PALB2 |
c.668T>C |
p.Ile223Thr |
Missense |
4/13 |
- |
10-46121704-T-C |
ZFAND4 |
c.1567A>G |
p.Thr523Ala |
Missense |
7/10 |
- |
8-125989460-A-C |
ZNF572 |
c.950A>C |
p.Lys317Thr |
Missense |
3/3 |
- |
14-91744435-C-T |
CCDC88C |
c.4889G>A |
p.Arg1630His |
Missense |
29/30 |
- |
14-91744435-C-A |
CCDC88C |
c.4889G>T |
p.Arg1630Leu |
Missense |
29/30 |
- |
9-98638273-C-T |
ERCC6L2 |
c.1-15C>T |
- |
5-UTRSNV |
1/14 |
- |
8-16012594-G-C |
MSR1 |
c.877C>G |
p.Arg293Gly |
Missense |
6/9 |
- |
X-9621636-C-T |
TBL1X |
c.10C>T |
p.Leu4Phe |
Missense |
4/18 |
- |
6-117589463-A-G |
VGLL2 |
c.200A>G |
p.Glu67Gly |
Missense |
2/3 |
- |
7-20691041-A-G |
ABCB5 |
c.1-5A>G |
- |
IntronicSNV |
- |
3/18 |
13-32911295-G-T |
BRCA2 |
c.2803G>T |
p.Asp935Tyr |
Missense |
11/27 |
- |
13-32911295-G-C |
BRCA2 |
c.2803G>C |
p.Asp935His |
Missense |
11/27 |
- |
5-149219663-G-A |
PPARGC1B |
c.2678G>A |
p.Arg893Gln |
Missense |
9/12 |
- |
17-12915101-T-C |
ELAC2 |
c.560-1113A>G |
- |
IntronicSNV |
- |
6/22 |
11-18303533-G-A |
HPS5 |
c.3293C>T |
p.Thr1098Ile |
Missense |
22/23 |
- |
1-54480006-GC-AA |
LDLRAD1 |
c.104_105delGCinsAA |
p.Arg35Gln |
Missense |
3/6 |
- |
11-130784589-C-A |
SNX19 |
c.1246G>T |
p.Gly416Cys |
Missense |
1/11 |
- |
11-65649676-G-A |
CTSW |
c.317G>A |
p.Arg106Gln |
Missense |
4/10 |
- |
6-41652566-C-T |
TFEB |
c.1244G>A |
p.Ser415Asn |
Missense |
9/9 |
- |
2-85824592-C-T |
RNF181 |
c.427C>T |
p.Arg143* |
Nonsense |
5/5 |
- |
6-129980436-T-A |
ARHGAP18 |
c.114-17273A>T |
- |
IntronicSNV |
- |
1/14 |
2-242755734-C-T |
NEU4 |
c.89C>T |
p.Thr30Met |
Missense |
2/4 |
- |
17-47579431-C-T |
NGFR |
c.73C>T |
p.Leu25Phe |
Missense |
2/6 |
- |
2-103054449-G-A |
IL18RAP |
c.730+627G>A |
- |
IntronicSNV |
- |
6/11 |
19-51330951-T-G |
KLK15 |
c.164A>C |
p.His55Pro |
Missense |
2/5 |
- |
11-68480857-G-T |
TESMIN |
c.1039C>A |
p.Pro347Thr |
Missense |
8/10 |
- |
2-86260785-C-T |
POLR1A |
c.4160G>A |
p.Arg1387Gln |
Missense |
28/34 |
- |
2-85824592-C-G |
RNF181 |
c.427C>G |
p.Arg143Gly |
Missense |
5/5 |
- |
22-29693915-G-A |
EWSR1 |
c.1393G>A |
p.Gly465Ser |
Missense |
13/17 |
- |
5-176637240-G-A |
NSD1 |
c.1033G>A |
p.Val345Met |
Missense |
6/24 |
- |
5-176637240-G-T |
NSD1 |
c.1033G>T |
p.Val345Leu |
Missense |
6/24 |
- |
5-172571590-A-C |
BNIP1 |
c.42A>C |
p.Gln14His |
Missense |
1/7 |
- |
2-60720246-C-T |
BCL11A |
c.386-24278G>A |
- |
IntronicSNV |
- |
2/3 |
16-53358439-A-G |
CHD9 |
c.8278A>G |
p.Thr2760Ala |
Missense |
39/39 |
- |
3-37670679-G-A |
ITGA9 |
c.1691G>A |
p.Arg564Gln |
Missense |
16/28 |
- |
5-136608159-A-T |
SPOCK1 |
c.187-5415T>A |
- |
IntronicSNV |
- |
2/10 |
12-7528404-C-T |
CD163L1 |
c.2578G>A |
p.Glu860Lys |
Missense |
10/20 |
- |
19-38912609-C-T |
RASGRP4 |
c.208G>A |
p.Asp70Asn |
Missense |
2/17 |
- |
13-32930730-C-T |
BRCA2 |
c.7601C>T |
p.Ala2534Val |
Missense |
15/27 |
- |
9-130475480-C-T |
CFAP157 |
c.1486C>T |
p.Pro496Ser |
Missense |
8/9 |
- |
15-41810286-C-T |
RPAP1 |
c.3890G>A |
p.Arg1297His |
Missense |
23/25 |
- |
2-121744056-G-A |
GLI2 |
c.2159G>A |
p.Arg720His |
Missense |
13/14 |
- |
6-167754401-A-G |
TTLL2 |
c.1013A>G |
p.Asp338Gly |
Missense |
3/3 |
- |
15-91354521-G-C |
BLM |
c.3961G>C |
p.Val1321Leu |
Missense |
21/22 |
- |
15-91354521-G-A |
BLM |
c.3961G>A |
p.Val1321Ile |
Missense |
21/22 |
- |
19-1223125-C-T |
STK11 |
c.1062C>T |
p.Phe354Phe |
Synonymous |
8/10 |
- |
6-32015775-G-A |
TNXB |
c.10054C>T |
p.Pro3352Ser |
Missense |
30/44 |
- |
22-18901008-G-A |
PRODH |
c.1558C>T |
p.His520Tyr |
Missense |
14/15 |
- |
5-109190943-C-T |
MAN2A1 |
c.3079C>T |
p.Pro1027Ser |
Missense |
20/22 |
- |
9-124536561-A-G |
DAB2IP |
c.2906A>G |
p.Asn969Ser |
Missense |
13/17 |
- |
2-202252539-G-A |
TRAK2 |
c.1583C>T |
p.Thr528Ile |
Missense |
13/16 |
- |
2-202252539-G-T |
TRAK2 |
c.1583C>A |
p.Thr528Lys |
Missense |
13/16 |
- |
10-104176384-T-G |
PSD |
c.412A>C |
p.Thr138Pro |
Missense |
3/18 |
- |
19-49965986-CGT-AAG |
ALDH16A1 |
c.1072_1074delCGTinsAAG |
p.Arg358Lys |
Missense |
8/17 |
- |
4-70505162-G-A |
UGT2A2 |
c.197C>T |
p.Ala66Val |
Missense |
1/6 |
- |
13-32914046-G-C |
BRCA2 |
c.5554G>C |
p.Val1852Leu |
Missense |
11/27 |
- |
13-32914046-G-T |
BRCA2 |
c.5554G>T |
p.Val1852Phe |
Missense |
11/27 |
- |
13-32914046-G-A |
BRCA2 |
c.5554G>A |
p.Val1852Ile |
Missense |
11/27 |
- |
5-58334922-G-T |
PDE4D |
c.809-124C>A |
- |
IntronicSNV |
- |
5/14 |
5-131911535-A-C |
RAD50 |
c.280A>C |
p.Ile94Leu |
Missense |
3/25 |
- |
17-35771468-C-T |
TADA2A |
c.16C>T |
p.Pro6Ser |
Missense |
2/16 |
- |
22-43831058-G-C |
MPPED1 |
c.329G>C |
p.Gly110Ala |
Missense |
3/7 |
- |
19-49899076-G-A |
CCDC155 |
c.386G>A |
p.Arg129Gln |
Missense |
5/20 |
- |
22-45258242-G-C |
PRR5-ARHGAP8 |
c.1462G>C |
- |
missense_variant |
15/15 |
- |
22-45258242-G-T |
PRR5-ARHGAP8 |
c.1462G>T |
- |
missense_variant |
15/15 |
- |
17-27417925-C-T |
MYO18A |
c.5207G>A |
p.Arg1736His |
Missense |
35/42 |
- |
2-86831051-C-A |
RNF103-CHMP3 |
c.132+16402G>T |
- |
IntronicSNV |
- |
3/7 |
14-64519035-A-T |
SYNE2 |
c.8404A>T |
p.Ser2802Cys |
Missense |
48/116 |
- |
1-114516078-A-G |
HIPK1 |
c.3577A>G |
p.Ile1193Val |
Missense |
16/16 |
- |
X-51486790-C-T |
GSPT2 |
c.68C>T |
p.Pro23Leu |
Missense |
1/1 |
- |
14-53066959-T-C |
GPR137C |
c.617T>C |
p.Leu206Ser |
Missense |
3/7 |
- |
8-16026259-A-G |
MSR1 |
c.338T>C |
p.Val113Ala |
Missense |
4/9 |
- |
8-16026259-A-T |
MSR1 |
c.338T>A |
p.Val113Asp |
Missense |
4/9 |
- |
17-7577091-G-T |
TP53 |
c.847C>A |
p.Arg283Ser |
Missense |
8/11 |
- |
17-7577091-G-A |
TP53 |
c.847C>T |
p.Arg283Cys |
Missense |
8/11 |
- |
22-26706747-C-G |
SEZ6L |
c.1626C>G |
p.Ile542Met |
Missense |
7/17 |
- |
6-31868407-G-A |
ZBTB12 |
c.676C>T |
p.Pro226Ser |
Missense |
2/2 |
- |
22-26706747-C-T |
SEZ6L |
c.1626C>T |
p.Ile542Ile |
Synonymous |
7/17 |
- |
19-17370409-G-T |
USHBP1 |
c.901C>A |
p.Arg301Arg |
Synonymous |
6/13 |
- |
19-17370409-G-A |
USHBP1 |
c.901C>T |
p.Arg301Trp |
Missense |
6/13 |
- |
1-155039441-C-A |
EFNA4 |
c.349C>A |
p.Pro117Thr |
Missense |
2/4 |
- |
1-155039441-C-T |
EFNA4 |
c.349C>T |
p.Pro117Ser |
Missense |
2/4 |
- |
2-202514849-C-T |
MPP4 |
c.1421G>A |
p.Arg474His |
Missense |
19/22 |
- |
10-81146159-G-A |
ZCCHC24 |
c.668C>T |
p.Pro223Leu |
Missense |
4/4 |
- |
3-48637143-C-T |
UQCRC1 |
c.1303G>A |
p.Glu435Lys |
Missense |
12/13 |
- |
20-32873413-G-T |
AHCY |
c.1000C>A |
p.Arg334Ser |
Missense |
9/10 |
- |
20-32873413-G-A |
AHCY |
c.1000C>T |
p.Arg334Cys |
Missense |
9/10 |
- |
6-165711487-G-A |
C6orf118 |
c.1040C>T |
p.Ala347Val |
Missense |
5/9 |
- |
6-31118844-G-A |
CCHCR1 |
c.590C>T |
p.Ala197Val |
Missense |
5/18 |
- |
17-76565555-C-T |
DNAH17 |
c.1099G>A |
p.Glu367Lys |
Missense |
8/81 |
- |
19-39123127-G-A |
EIF3K |
c.412G>A |
p.Val138Ile |
Missense |
5/8 |
- |
4-87653856-G-C |
PTPN13 |
c.1795G>C |
p.Asp599His |
Missense |
12/47 |
- |
9-119976883-A-T |
ASTN2 |
c.769T>A |
p.Ser257Thr |
Missense |
3/22 |
- |
13-32929387-T-C |
BRCA2 |
c.7397T>C |
p.Val2466Ala |
Missense |
14/27 |
- |
5-1409938-G-A |
SLC6A3 |
c.1296C>T |
p.Thr432Thr |
Synonymous |
10/15 |
- |
18-2724930-A-C |
SMCHD1 |
c.2637A>C |
p.Lys879Asn |
Missense |
21/48 |
- |
18-2724930-A-T |
SMCHD1 |
c.2637A>T |
p.Lys879Asn |
Missense |
21/48 |
- |
X-7268296-C-T |
STS |
c.1746C>T |
p.Ser582Ser |
Synonymous |
10/10 |
- |
5-1085534-C-A |
SLC12A7 |
c.730G>T |
p.Ala244Ser |
Missense |
7/24 |
- |
9-113132221-G-A |
SVEP1 |
c.10676C>T |
p.Thr3559Met |
Missense |
47/48 |
- |
4-87653856-G-T |
PTPN13 |
c.1795G>T |
p.Asp599Tyr |
Missense |
12/47 |
- |
6-86199233-A-G |
NT5E |
c.1126A>G |
p.Thr376Ala |
Missense |
6/8 |
- |
11-108143456-C-A |
ATM |
c.3161C>A |
p.Pro1054His |
Missense |
22/63 |
- |
11-108143456-C-G |
ATM |
c.3161C>G |
p.Pro1054Arg |
Missense |
22/63 |
- |
4-119952955-C-T |
SYNPO2 |
c.3025C>T |
p.Arg1009Trp |
Missense |
4/4 |
- |
11-65620368-G-A |
SNX32 |
c.1097G>A |
p.Arg366Gln |
Missense |
12/13 |
- |
11-65620368-G-C |
SNX32 |
c.1097G>C |
p.Arg366Pro |
Missense |
12/13 |
- |
1-182555169-A-T |
RNASEL |
c.773T>A |
p.Leu258His |
Missense |
2/7 |
- |
7-11446658-A-G |
THSD7A |
c.3941T>C |
p.Val1314Ala |
Missense |
21/28 |
- |
8-134107312-G-T |
SLA |
c.-319+7485C>A |
- |
intron_variant |
- |
1/8 |
9-130186700-C-G |
ZNF79 |
c.1-367C>G |
- |
5-UTRSNV |
1/5 |
- |
2-201943624-C-T |
NDUFB3 |
c.19C>T |
p.His7Tyr |
Missense |
2/3 |
- |
1-154931757-T-A |
PYGO2 |
c.719A>T |
p.Asn240Ile |
Missense |
3/3 |
- |
16-839269-G-A |
CHTF18 |
c.346G>A |
p.Glu116Lys |
Missense |
3/22 |
- |
6-31549407-C-T |
LTB |
c.209G>A |
p.Gly70Glu |
Missense |
3/4 |
- |
10-22209885-C-T |
DNAJC1 |
c.379G>A |
p.Asp127Asn |
Missense |
4/12 |
- |
7-122202593-C-T |
CADPS2 |
c.1336-7850G>A |
- |
IntronicSNV |
- |
7/29 |
13-32907407-A-G |
BRCA2 |
c.1792A>G |
p.Thr598Ala |
Missense |
10/27 |
- |
8-22398155-A-G |
PPP3CC |
c.1379A>G |
p.Lys460Arg |
Missense |
14/14 |
- |
7-20825215-A-G |
SP8 |
c.221T>C |
p.Val74Ala |
Missense |
2/2 |
- |
3-169999670-A-G |
PRKCI |
c.981A>G |
p.Arg327Arg |
Synonymous |
11/18 |
- |
2-108994808-C-G |
SULT1C4 |
c.15C>G |
p.Asp5Glu |
Missense |
1/7 |
- |
6-31379043-A-G |
MICA |
c.520A>G |
p.Met174Val |
Missense |
3/6 |
- |
6-33271971-C-T |
TAPBP |
c.1234G>A |
p.Asp412Asn |
Missense |
6/8 |
- |
20-32302511-G-C |
PXMP4 |
c.145C>G |
p.Leu49Val |
Missense |
2/4 |
- |
7-101183198-C-T |
COL26A1 |
c.466C>T |
p.Arg156Trp |
Missense |
5/14 |
- |
1-202122865-C-G |
PTPN7 |
c.1020G>C |
p.Gln340His |
Missense |
7/10 |
- |
12-110009465-G-C |
MMAB |
c.185C>G |
p.Thr62Arg |
Missense |
2/9 |
- |
12-110009465-G-A |
MMAB |
c.185C>T |
p.Thr62Met |
Missense |
2/9 |
- |
17-12896274-C-A |
ELAC2 |
c.2222G>T |
p.Arg741Leu |
Missense |
23/23 |
- |
17-12896274-C-T |
ELAC2 |
c.2222G>A |
p.Arg741His |
Missense |
23/23 |
- |
3-170585827-C-T |
RPL22L1 |
c.199G>A |
p.Val67Ile |
Missense |
3/4 |
- |
17-74625633-C-T |
ST6GALNAC1 |
c.292G>A |
p.Gly98Arg |
Missense |
2/9 |
- |
19-39225486-G-T |
CAPN12 |
c.1711C>A |
p.Leu571Ile |
Missense |
15/21 |
- |
X-10094215-G-A |
WWC3 |
c.1975G>A |
p.Ala659Thr |
Missense |
15/23 |
- |
1-204588444-C-T |
LRRN2 |
c.677G>A |
p.Arg226Gln |
Missense |
3/3 |
- |
9-35740902-C-T |
GBA2 |
c.946G>A |
p.Gly316Arg |
Missense |
5/17 |
- |
9-35740902-C-G |
GBA2 |
c.946G>C |
p.Gly316Arg |
Missense |
5/17 |
- |
11-108168053-A-C |
ATM |
c.4949A>C |
p.Asn1650Thr |
Missense |
33/63 |
- |
11-108168053-A-G |
ATM |
c.4949A>G |
p.Asn1650Ser |
Missense |
33/63 |
- |
15-58476204-T-C |
AQP9 |
c.758T>C |
p.Val253Ala |
Missense |
6/6 |
- |
3-47047500-G-A |
NBEAL2 |
c.6866G>A |
p.Arg2289Gln |
Missense |
43/54 |
- |
10-114773927-A-G |
TCF7L2 |
c.382-25857A>G |
- |
IntronicSNV |
- |
3/13 |
1-204966402-A-G |
NFASC |
c.2887A>G |
p.Ile963Val |
Missense |
25/30 |
- |
10-104129532-G-A |
GBF1 |
c.3215G>A |
p.Arg1072Gln |
Missense |
25/40 |
- |
8-16012620-C-T |
MSR1 |
c.851G>A |
p.Arg284Gln |
Missense |
6/9 |
- |
3-44635975-G-A |
ZNF660 |
c.290G>A |
p.Arg97Gln |
Missense |
3/3 |
- |
3-186296304-A-G |
DNAJB11 |
c.456+715A>G |
- |
IntronicSNV |
- |
4/9 |
12-13102576-G-A |
GPRC5D |
c.743C>T |
p.Thr248Ile |
Missense |
1/3 |
- |
19-51561871-C-T |
KLK13 |
c.569G>A |
p.Arg190His |
Missense |
4/5 |
- |
3-30713834-G-A |
TGFBR2 |
c.1234G>A |
p.Val412Met |
Missense |
5/8 |
- |
10-81058336-A-G |
ZMIZ1 |
c.1665A>G |
p.Pro555Pro |
Synonymous |
15/25 |
- |
10-104597057-C-T |
CYP17A1 |
c.62G>A |
p.Arg21Lys |
Missense |
1/8 |
- |
20-60791316-C-T |
HRH3 |
c.1084G>A |
p.Val362Ile |
Missense |
3/3 |
- |
16-54318172-C-G |
IRX3 |
c.1437G>C |
p.Gln479His |
Missense |
3/4 |
- |
16-54318172-C-A |
IRX3 |
c.1437G>T |
p.Gln479His |
Missense |
3/4 |
- |
9-139914819-G-A |
ABCA2 |
c.1394C>T |
p.Ala465Val |
Missense |
10/49 |
- |
9-139914819-G-T |
ABCA2 |
c.1394C>A |
p.Ala465Glu |
Missense |
10/49 |
- |
16-81095485-G-A |
C16orf46 |
c.469C>T |
p.Arg157* |
Nonsense |
4/4 |
- |
16-81095485-G-C |
C16orf46 |
c.469C>G |
p.Arg157Gly |
Missense |
4/4 |
- |
15-65321780-A-T |
MTFMT |
c.172T>A |
p.Phe58Ile |
Missense |
1/9 |
- |
12-100042040-C-T |
FAM71C |
c.88C>T |
p.Arg30Trp |
Missense |
1/2 |
- |
12-100042040-C-G |
FAM71C |
c.88C>G |
p.Arg30Gly |
Missense |
1/2 |
- |
19-53747024-C-G |
ZNF677 |
c.142G>C |
p.Asp48His |
Missense |
4/5 |
- |
6-30954837-T-G |
MUC21 |
c.885T>G |
p.Ser295Arg |
Missense |
2/3 |
- |
18-25532304-T-C |
CDH2 |
c.2534A>G |
p.Asn845Ser |
Missense |
16/16 |
- |
11-57428771-A-G |
CLP1 |
c.1141A>G |
p.Thr381Ala |
Missense |
3/3 |
- |
11-74883577-G-T |
SLCO2B1 |
c.935G>T |
p.Arg312Leu |
Missense |
7/14 |
- |
11-74883577-G-A |
SLCO2B1 |
c.935G>A |
p.Arg312Gln |
Missense |
7/14 |
- |
4-187629770-A-C |
FAT1 |
c.1212T>G |
p.Ser404Arg |
Missense |
2/27 |
- |
17-47284752-C-A |
GNGT2 |
c.33G>T |
p.Leu11Phe |
Missense |
3/4 |
- |
20-61441901-C-T |
OGFR |
c.449C>T |
p.Thr150Met |
Missense |
5/7 |
- |
11-65408874-G-A |
SIPA1 |
c.482G>A |
p.Gly161Glu |
Missense |
2/16 |
- |
11-65715203-C-T |
TSGA10IP |
c.907C>T |
p.Arg303* |
Nonsense |
3/8 |
- |
5-173426709-G-A |
C5orf47 |
c.418G>A |
p.Val140Ile |
Missense |
3/5 |
- |
5-173426709-G-T |
C5orf47 |
c.418G>T |
p.Val140Leu |
Missense |
3/5 |
- |
19-53747024-C-T |
ZNF677 |
c.142G>A |
p.Asp48Asn |
Missense |
4/5 |
- |
13-99449717-C-T |
DOCK9 |
c.5988G>A |
p.Ala1996Ala |
Synonymous |
54/57 |
- |
15-56032665-C-G |
PRTG |
c.312G>C |
p.Glu104Asp |
Missense |
2/20 |
- |
11-102220689-A-G |
BIRC2 |
c.104A>G |
p.Asn35Ser |
Missense |
2/9 |
- |
17-35601623-G-A |
ACACA |
c.2512C>T |
p.Arg838Trp |
Missense |
21/56 |
- |
7-143826678-C-A |
OR2A14 |
c.473C>A |
p.Pro158His |
Missense |
1/1 |
- |
14-75386576-G-A |
RPS6KL1 |
c.362C>T |
p.Pro121Leu |
Missense |
4/12 |
- |
1-67109277-G-C |
SGIP1 |
c.334G>C |
p.Glu112Gln |
Missense |
7/25 |
- |
5-131940620-C-T |
RAD50 |
c.2647C>T |
p.Arg883Cys |
Missense |
16/25 |
- |
19-9236969-G-A |
OR7G3 |
c.658C>T |
p.Arg220* |
Nonsense |
1/1 |
- |
12-96422843-C-T |
LTA4H |
c.280G>A |
p.Ala94Thr |
Missense |
2/19 |
- |
12-96422843-C-A |
LTA4H |
c.280G>T |
p.Ala94Ser |
Missense |
2/19 |
- |
13-32953550-G-T |
BRCA2 |
c.8851G>T |
p.Ala2951Ser |
Missense |
22/27 |
- |
6-32150086-C-T |
AGER |
c.902G>A |
p.Cys301Tyr |
Missense |
8/11 |
- |
20-62838961-A-G |
MYT1 |
c.412A>G |
p.Lys138Glu |
Missense |
7/23 |
- |
20-32685225-C-A |
EIF2S2 |
c.531G>T |
p.Glu177Asp |
Missense |
5/9 |
- |
2-202006096-G-A |
CFLAR |
c.606+934G>A |
- |
IntronicSNV |
- |
5/9 |
4-9943624-C-T |
SLC2A9 |
c.640G>A |
p.Val214Ile |
Missense |
7/13 |
- |
6-20156174-T-C |
MBOAT1 |
c.100-3174A>G |
- |
IntronicSNV |
- |
1/12 |
6-20156174-T-A |
MBOAT1 |
c.100-3174A>T |
- |
IntronicSNV |
- |
1/12 |
17-12898186-C-T |
ELAC2 |
c.1804G>A |
p.Val602Met |
Missense |
20/23 |
- |
20-32162037-G-A |
CBFA2T2 |
c.35-32725G>A |
- |
IntronicSNV |
- |
1/10 |
16-23641340-G-A |
PALB2 |
c.2135C>T |
p.Ala712Val |
Missense |
5/13 |
- |
19-49376683-A-G |
PPP1R15A |
c.193A>G |
p.Arg65Gly |
Missense |
2/3 |
- |
7-15430495-C-A |
AGMO |
c.712G>T |
p.Gly238Cys |
Missense |
7/13 |
- |
3-172835082-C-T |
SPATA16 |
c.440G>A |
p.Gly147Glu |
Missense |
2/11 |
- |
4-9943624-C-G |
SLC2A9 |
c.640G>C |
p.Val214Leu |
Missense |
7/13 |
- |
2-152521983-A-G |
NEB |
c.5102T>C |
p.Val1701Ala |
Missense |
42/150 |
- |
17-59924512-C-T |
BRIP1 |
c.577G>A |
p.Val193Ile |
Missense |
6/20 |
- |
19-51016200-C-T |
ASPDH |
c.101G>A |
p.Arg34His |
Missense |
2/5 |
- |
13-32968861-T-C |
BRCA2 |
c.9292T>C |
p.Tyr3098His |
Missense |
25/27 |
- |
16-840599-C-A |
CHTF18 |
c.827C>A |
p.Ala276Asp |
Missense |
7/22 |
- |
13-32911937-A-G |
BRCA2 |
c.3445A>G |
p.Met1149Val |
Missense |
11/27 |
- |
7-120971816-T-C |
WNT16 |
c.431T>C |
p.Met144Thr |
Missense |
3/4 |
- |
10-5415798-G-T |
UCN3 |
c.115G>T |
p.Ala39Ser |
Missense |
2/2 |
- |
17-36478028-G-A |
MRPL45 |
c.680G>A |
p.Arg227Gln |
Missense |
7/8 |
- |
12-3039437-G-C |
TULP3 |
c.418G>C |
p.Asp140His |
Missense |
5/11 |
- |
12-3039437-G-A |
TULP3 |
c.418G>A |
p.Asp140Asn |
Missense |
5/11 |
- |
4-10022947-C-T |
SLC2A9 |
c.64-2250G>A |
- |
IntronicSNV |
- |
2/12 |
9-136501728-C-A |
DBH |
c.235C>A |
p.Arg79Arg |
Synonymous |
1/12 |
- |
13-38156538-C-T |
POSTN |
c.1357G>A |
p.Gly453Arg |
Missense |
10/23 |
- |
13-32912733-C-T |
BRCA2 |
c.4241C>T |
p.Thr1414Met |
Missense |
11/27 |
- |
1-114444457-C-T |
AP4B1 |
c.389G>A |
p.Arg130Gln |
Missense |
4/11 |
- |
3-21719246-C-T |
ZNF385D |
c.23-12726G>A |
- |
IntronicSNV |
- |
1/7 |
4-110384078-A-G |
SEC24B |
c.155A>G |
p.Gln52Arg |
Missense |
2/23 |
- |
1-10725413-G-T |
CASZ1 |
c.232C>A |
p.Arg78Ser |
Missense |
5/16 |
- |
6-117013314-C-T |
KPNA5 |
c.235C>T |
p.Pro79Ser |
Missense |
3/15 |
- |
6-117013314-C-G |
KPNA5 |
c.235C>G |
p.Pro79Ala |
Missense |
3/15 |
- |
19-35260442-C-T |
ZNF599 |
c.37G>A |
p.Asp13Asn |
Missense |
2/4 |
- |
3-5216072-A-G |
ARL8B |
c.484A>G |
p.Ile162Val |
Missense |
6/7 |
- |
15-23889873-G-C |
MAGEL2 |
c.3017C>G |
p.Thr1006Ser |
Missense |
1/1 |
- |
12-9258857-C-T |
A2M |
c.1079G>A |
p.Arg360Gln |
Missense |
10/36 |
- |
1-145562149-C-A |
ANKRD35 |
c.1837C>A |
p.Leu613Met |
Missense |
10/14 |
- |
7-45125700-C-T |
NACAD |
c.79G>A |
p.Asp27Asn |
Missense |
2/8 |
- |
13-32906558-T-A |
BRCA2 |
c.943T>A |
p.Cys315Ser |
Missense |
10/27 |
- |
22-47091143-A-G |
CERK |
c.1013T>C |
p.Val338Ala |
Missense |
9/13 |
- |
22-18609493-G-A |
TUBA8 |
c.748G>A |
p.Val250Met |
Missense |
4/5 |
- |
17-12899902-C-T |
ELAC2 |
c.1501G>A |
p.Ala501Thr |
Missense |
16/23 |
- |
11-65147373-C-T |
SLC25A45 |
c.118G>A |
p.Val40Ile |
Missense |
4/7 |
- |
5-44388688-C-T |
FGF10 |
c.97G>A |
p.Val33Ile |
Missense |
1/3 |
- |
14-102391577-G-A |
PPP2R5C |
c.1543G>A |
p.Ala515Thr |
Missense |
14/14 |
- |
1-15871023-G-C |
DNAJC16 |
c.704G>C |
p.Arg235Pro |
Missense |
5/15 |
- |
10-5810341-G-A |
GDI2 |
c.826C>T |
p.Arg276Cys |
Missense |
8/11 |
- |
13-32910842-A-G |
BRCA2 |
c.2350A>G |
p.Met784Val |
Missense |
11/27 |
- |
10-31137496-T-C |
ZNF438 |
c.1838A>G |
p.Asp613Gly |
Missense |
7/8 |
- |
6-116574940-C-T |
TSPYL4 |
c.232G>A |
p.Ala78Thr |
Missense |
1/1 |
- |
15-50904954-T-C |
TRPM7 |
c.1843A>G |
p.Thr615Ala |
Missense |
16/39 |
- |
11-65088508-G-A |
CDC42EP2 |
c.139G>A |
p.Gly47Ser |
Missense |
2/2 |
- |
3-49456758-C-T |
AMT |
c.631G>A |
p.Glu211Lys |
Missense |
6/9 |
- |
3-49456758-C-G |
AMT |
c.631G>C |
p.Glu211Gln |
Missense |
6/9 |
- |
20-23030102-C-T |
THBD |
c.40G>A |
p.Gly14Ser |
Missense |
1/1 |
- |
7-143793035-C-T |
OR2A12 |
c.835C>T |
p.Leu279Phe |
Missense |
1/1 |
- |
6-30675830-T-C |
MDC1 |
c.2526A>G |
p.Arg842Arg |
Synonymous |
8/15 |
- |
6-30675830-T-A |
MDC1 |
c.2526A>T |
p.Arg842Ser |
Missense |
8/15 |
- |
19-53057722-A-G |
ZNF808 |
c.1553A>G |
p.Asn518Ser |
Missense |
5/5 |
- |
3-87294955-C-T |
CHMP2B |
c.218C>T |
p.Thr73Met |
Missense |
3/6 |
- |
5-1463932-G-C |
LPCAT1 |
c.1439C>G |
p.Ala480Gly |
Missense |
14/14 |
- |
8-16035421-C-T |
MSR1 |
c.77G>A |
p.Arg26His |
Missense |
2/9 |
- |
5-147505341-G-A |
SPINK5 |
c.2885G>A |
p.Arg962Lys |
Missense |
30/34 |
- |
11-108106435-A-G |
ATM |
c.370A>G |
p.Ile124Val |
Missense |
5/63 |
- |
22-29130456-G-T |
CHEK2 |
c.254C>A |
p.Pro85His |
Missense |
2/16 |
- |
22-29130456-G-C |
CHEK2 |
c.254C>G |
p.Pro85Arg |
Missense |
2/16 |
- |
22-29130456-G-A |
CHEK2 |
c.254C>T |
p.Pro85Leu |
Missense |
2/16 |
- |
16-23635370-C-T |
PALB2 |
c.2794G>A |
p.Val932Met |
Missense |
8/13 |
- |
10-55581779-T-C |
PCDH15 |
c.5707A>G |
p.Ile1903Val |
Missense |
33/33 |
- |
16-23647211-T-C |
PALB2 |
c.656A>G |
p.Asp219Gly |
Missense |
4/13 |
- |
1-206658354-C-A |
IKBKE |
c.1193C>A |
p.Thr398Lys |
Missense |
13/21 |
- |
1-206658354-C-T |
IKBKE |
c.1193C>T |
p.Thr398Met |
Missense |
13/21 |
- |
X-140993264-G-A |
MAGEC1 |
c.74G>A |
p.Cys25Tyr |
Missense |
4/4 |
- |
X-140993264-G-C |
MAGEC1 |
c.74G>C |
p.Cys25Ser |
Missense |
4/4 |
- |
X-140993264-G-T |
MAGEC1 |
c.74G>T |
p.Cys25Phe |
Missense |
4/4 |
- |
2-63175957-C-G |
EHBP1 |
c.2081C>G |
p.Thr694Ser |
Missense |
14/25 |
- |
12-112037056-C-T |
ATXN2 |
c.263G>A |
p.Arg88Gln |
Missense |
2/25 |
- |
4-74719604-C-T |
PF4V1 |
c.205C>T |
p.His69Tyr |
Missense |
2/3 |
- |
1-44290530-A-G |
ST3GAL3 |
c.382A>G |
p.Thr128Ala |
Missense |
5/13 |
- |
14-102391577-G-C |
PPP2R5C |
c.1543G>C |
p.Ala515Pro |
Missense |
14/14 |
- |
19-38795554-A-G |
C19orf33 |
c.271A>G |
p.Lys91Glu |
Missense |
4/4 |
- |
4-22390167-C-T |
ADGRA3 |
c.3127G>A |
p.Val1043Met |
Missense |
19/19 |
- |
10-5920195-C-T |
ANKRD16 |
c.984G>A |
p.Gln328Gln |
Synonymous |
7/8 |
- |
11-1775352-C-T |
CTSD |
c.844G>A |
p.Gly282Arg |
Missense |
7/9 |
- |
19-39225486-G-A |
CAPN12 |
c.1711C>T |
p.Leu571Phe |
Missense |
15/21 |
- |
8-87162515-G-A |
ATP6V0D2 |
c.814G>A |
p.Gly272Arg |
Missense |
6/8 |
- |
6-28540989-T-G |
ZBED9 |
c.2677A>C |
p.Ile893Leu |
Missense |
4/4 |
- |
17-41245233-A-G |
BRCA1 |
c.2315T>C |
p.Val772Ala |
Missense |
10/23 |
- |
8-126091074-T-C |
WASHC5 |
c.617A>G |
p.Asn206Ser |
Missense |
6/29 |
- |
17-41243800-C-T |
BRCA1 |
c.3748G>A |
p.Glu1250Lys |
Missense |
10/23 |
- |
17-17942293-C-T |
ATPAF2 |
c.35G>A |
p.Gly12Glu |
Missense |
1/8 |
- |
17-47797758-C-T |
FAM117A |
c.503G>A |
p.Ser168Asn |
Missense |
4/8 |
- |
11-99415903-T-G |
CNTN5 |
c.1-11043T>G |
- |
IntronicSNV |
- |
2/24 |
13-32953971-C-T |
BRCA2 |
c.9038C>T |
p.Thr3013Ile |
Missense |
23/27 |
- |
6-161006084-G-A |
LPA |
c.4283C>T |
p.Pro1428Leu |
Missense |
26/39 |
- |
12-53073940-G-A |
KRT1 |
c.193C>T |
p.Arg65Trp |
Missense |
1/9 |
- |
16-23647146-T-G |
PALB2 |
c.721A>C |
p.Asn241His |
Missense |
4/13 |
- |
9-104171770-G-T |
ZNF189 |
c.1720G>T |
p.Asp574Tyr |
Missense |
3/3 |
- |
17-17942293-C-A |
ATPAF2 |
c.35G>T |
p.Gly12Val |
Missense |
1/8 |
- |
15-89169738-G-T |
AEN |
c.298G>T |
p.Gly100Trp |
Missense |
2/4 |
- |
6-109764241-A-T |
SMPD2 |
c.686A>T |
p.Lys229Met |
Missense |
8/10 |
- |
11-108098576-C-T |
ATM |
c.146C>T |
p.Ser49Phe |
Missense |
3/63 |
- |
17-41243800-C-A |
BRCA1 |
c.3748G>T |
p.Glu1250* |
Nonsense |
10/23 |
- |
9-104171770-G-A |
ZNF189 |
c.1720G>A |
p.Asp574Asn |
Missense |
3/3 |
- |
6-161137780-G-A |
PLG |
c.772G>A |
p.Asp258Asn |
Missense |
7/19 |
- |
11-76834837-G-A |
CAPN5 |
c.1844G>A |
p.Arg615Gln |
Missense |
13/13 |
- |
12-100042040-C-A |
FAM71C |
c.88C>A |
p.Arg30Arg |
Synonymous |
1/2 |
- |
20-32257204-C-T |
NECAB3 |
c.364G>A |
p.Ala122Thr |
Missense |
5/13 |
- |
6-27279805-G-T |
POM121L2 |
c.145C>A |
p.Pro49Thr |
Missense |
1/1 |
- |
16-2296877-C-T |
ECI1 |
c.277G>A |
p.Gly93Ser |
Missense |
3/7 |
- |
1-201786330-G-A |
NAV1 |
c.5455G>A |
p.Val1819Met |
Missense |
29/30 |
- |
11-108186610-G-A |
ATM |
c.6067G>A |
p.Gly2023Arg |
Missense |
41/63 |
- |
7-66098373-T-C |
KCTD7 |
c.256T>C |
p.Tyr86His |
Missense |
2/4 |
- |
18-24441163-G-A |
AQP4 |
c.544C>T |
p.Arg182Trp |
Missense |
3/5 |
- |
6-153431125-C-T |
RGS17 |
c.-26+21134G>A |
- |
intron_variant |
- |
1/4 |
22-45767391-C-T |
SMC1B |
c.2273G>A |
p.Arg758Gln |
Missense |
14/25 |
- |
10-93668408-C-T |
FGFBP3 |
c.319G>A |
p.Ala107Thr |
Missense |
2/2 |
- |
3-113721317-C-G |
CCDC191 |
c.2047G>C |
p.Glu683Gln |
Missense |
12/17 |
- |
19-10131939-T-A |
RDH8 |
c.605T>A |
p.Leu202Gln |
Missense |
5/6 |
- |
19-10131939-T-C |
RDH8 |
c.605T>C |
p.Leu202Pro |
Missense |
5/6 |
- |
15-51763587-G-C |
DMXL2 |
c.7222C>G |
p.Leu2408Val |
Missense |
29/43 |
- |
8-16012615-G-A |
MSR1 |
c.856C>T |
p.Pro286Ser |
Missense |
6/9 |
- |
8-16012615-G-T |
MSR1 |
c.856C>A |
p.Pro286Thr |
Missense |
6/9 |
- |
19-44352639-G-A |
ZNF283 |
c.1886G>A |
p.Arg629His |
Missense |
7/7 |
- |
14-68193731-G-C |
RDH12 |
c.482G>C |
p.Arg161Pro |
Missense |
7/9 |
- |
12-49392880-C-T |
DDN |
c.191G>A |
p.Arg64His |
Missense |
1/2 |
- |
8-12943382-C-T |
DLC1 |
c.3214G>A |
p.Val1072Ile |
Missense |
14/14 |
- |
13-20763642-C-T |
GJB2 |
c.79G>A |
p.Val27Ile |
Missense |
2/2 |
- |
10-22015206-G-T |
MLLT10 |
c.1912G>T |
p.Ala638Ser |
Missense |
15/23 |
- |
3-87313540-G-A |
POU1F1 |
c.337C>T |
p.Arg113Trp |
Missense |
3/6 |
- |
3-87313540-G-T |
POU1F1 |
c.337C>A |
p.Arg113Arg |
Synonymous |
3/6 |
- |
1-203054980-C-T |
MYOG |
c.110G>A |
p.Arg37Gln |
Missense |
1/3 |
- |
1-203054980-C-A |
MYOG |
c.110G>T |
p.Arg37Leu |
Missense |
1/3 |
- |
22-38482330-AC-AA |
BAIAP2L2 |
c.1385_1386delGTinsAA |
p.Arg462Gln |
Missense |
12/14 |
- |
6-36867372-C-A |
C6orf89 |
c.173C>A |
p.Pro58His |
Missense |
2/8 |
- |
6-36867372-C-G |
C6orf89 |
c.173C>G |
p.Pro58Arg |
Missense |
2/8 |
- |
9-19290794-A-G |
DENND4C |
c.721A>G |
p.Ile241Val |
Missense |
5/32 |
- |
16-4790204-C-G |
C16orf71 |
c.327C>G |
p.Asn109Lys |
Missense |
4/10 |
- |
16-87394386-A-G |
FBXO31 |
c.341-414T>C |
- |
IntronicSNV |
- |
1/8 |
16-87394386-A-C |
FBXO31 |
c.341-414T>G |
- |
IntronicSNV |
- |
1/8 |
12-100042163-A-G |
FAM71C |
c.211A>G |
p.Met71Val |
Missense |
1/2 |
- |
19-42128097-C-T |
CEACAM4 |
c.469G>A |
p.Val157Met |
Missense |
3/7 |
- |
17-7671294-G-A |
DNAH2 |
c.3752G>A |
p.Arg1251Gln |
Missense |
23/86 |
- |
6-32097475-T-C |
FKBPL |
c.83A>G |
p.Asn28Ser |
Missense |
2/2 |
- |
10-6005799-G-C |
IL15RA |
c.289C>G |
p.Pro97Ala |
Missense |
3/7 |
- |
1-204106337-C-G |
ETNK2 |
c.909G>C |
p.Glu303Asp |
Missense |
6/8 |
- |
6-32097876-G-A |
FKBPL |
c.-79C>T |
- |
5_prime_UTR_variant |
1/2 |
- |
3-102181131-A-T |
ZPLD1 |
c.637A>T |
p.Thr213Ser |
Missense |
6/11 |
- |
3-102181131-A-G |
ZPLD1 |
c.637A>G |
p.Thr213Ala |
Missense |
6/11 |
- |
7-27872466-A-G |
JAZF1 |
c.685T>C |
p.Phe229Leu |
Missense |
5/5 |
- |
12-53624954-C-T |
RARG |
c.-144G>A |
- |
splice_region_variant,5_prime_UTR_variant |
2/10 |
- |
1-201938669-G-A |
TIMM17A |
c.503G>A |
p.Arg168Gln |
Missense |
6/6 |
- |
19-18572428-G-A |
ELL |
c.704C>T |
p.Thr235Met |
Missense |
5/12 |
- |
16-84020685-G-T |
NECAB2 |
c.460-3414G>T |
- |
IntronicSNV |
- |
5/12 |
11-36614521-C-G |
RAG2 |
c.1198G>C |
p.Asp400His |
Missense |
2/2 |
- |
12-27648710-C-A |
SMCO2 |
c.755C>A |
p.Thr252Lys |
Missense |
8/9 |
- |
21-43529680-G-C |
UMODL1 |
c.1528G>C |
p.Glu510Gln |
Missense |
10/23 |
- |
8-124526607-G-A |
FBXO32 |
c.373-7793C>T |
- |
IntronicSNV |
- |
4/6 |
6-151738516-A-C |
RMND1 |
c.1098T>G |
p.Ser366Arg |
Missense |
10/12 |
- |
18-72344002-G-A |
ZNF407 |
c.1027G>A |
p.Glu343Lys |
Missense |
1/8 |
- |
16-80577210-A-G |
DYNLRB2 |
c.41A>G |
p.His14Arg |
Missense |
2/4 |
- |
17-36059141-T-C |
HNF1B |
c.1594A>G |
p.Met532Val |
Missense |
8/9 |
- |
3-170150360-G-A |
CLDN11 |
c.440G>A |
p.Arg147His |
Missense |
3/3 |
- |
11-2181188-C-T |
INS |
c.227G>A |
p.Ser76Asn |
Missense |
3/3 |
- |
12-130897323-C-G |
RIMBP2 |
c.2662G>C |
p.Asp888His |
Missense |
16/20 |
- |
19-2426037-C-T |
TIMM13 |
c.*909G>A |
- |
3-UTRSNV |
3/3 |
- |
17-46804358-G-C |
HOXB13 |
c.649C>G |
p.Arg217Gly |
Missense |
2/2 |
- |
1-203194834-C-T |
CHIT1 |
c.220G>A |
p.Glu74Lys |
Missense |
3/11 |
- |
1-182555149-C-A |
RNASEL |
c.793G>T |
p.Glu265* |
Nonsense |
2/7 |
- |
1-201966542-G-A |
RNPEP |
c.950G>A |
p.Arg317His |
Missense |
5/11 |
- |
17-47302083-G-T |
PHOSPHO1 |
c.404C>A |
p.Ala135Glu |
Missense |
3/3 |
- |
12-52960917-G-A |
KRT74 |
c.1426C>T |
p.Pro476Ser |
Missense |
9/9 |
- |
22-24717850-A-T |
SPECC1L |
c.902A>T |
p.Asp301Val |
Missense |
5/17 |
- |
22-24717850-A-G |
SPECC1L |
c.902A>G |
p.Asp301Gly |
Missense |
5/17 |
- |
11-108164137-T-C |
ATM |
c.4709T>C |
p.Val1570Ala |
Missense |
31/63 |
- |
12-130897323-C-T |
RIMBP2 |
c.2662G>A |
p.Asp888Asn |
Missense |
16/20 |
- |
13-32929140-C-A |
BRCA2 |
c.7150C>A |
p.Gln2384Lys |
Missense |
14/27 |
- |
3-140675500-G-A |
SLC25A36 |
c.173G>A |
p.Arg58Gln |
Missense |
2/7 |
- |
3-113666020-G-T |
GRAMD1C |
c.*1695G>T |
- |
3-UTRSNV |
18/18 |
- |
19-57723013-G-A |
ZNF264 |
c.548G>A |
p.Arg183His |
Missense |
4/4 |
- |
14-91366563-T-A |
RPS6KA5 |
c.1268A>T |
p.Tyr423Phe |
Missense |
11/17 |
- |
14-91366563-T-C |
RPS6KA5 |
c.1268A>G |
p.Tyr423Cys |
Missense |
11/17 |
- |
8-75757392-C-T |
PI15 |
c.422C>T |
p.Pro141Leu |
Missense |
4/6 |
- |
1-22188296-G-A |
HSPG2 |
c.4909C>T |
p.Arg1637Cys |
Missense |
39/97 |
- |
11-28057897-G-A |
KIF18A |
c.2263C>T |
p.His755Tyr |
Missense |
14/17 |
- |
11-124742934-C-T |
ROBO3 |
c.1485C>T |
p.Asp495Asp |
Synonymous |
9/28 |
- |
9-32542016-T-C |
TOPORS |
c.2507A>G |
p.Tyr836Cys |
Missense |
3/3 |
- |
17-66267235-T-C |
SLC16A6 |
c.1066A>G |
p.Ile356Val |
Missense |
5/6 |
- |
19-11508192-G-A |
RGL3 |
c.1846C>T |
p.Gln616* |
Nonsense |
17/19 |
- |
2-201784957-G-T |
ORC2 |
c.1454C>A |
p.Thr485Asn |
Missense |
15/18 |
- |
2-201784957-G-A |
ORC2 |
c.1454C>T |
p.Thr485Ile |
Missense |
15/18 |
- |
9-136501728-C-T |
DBH |
c.235C>T |
p.Arg79Trp |
Missense |
1/12 |
- |
9-136501728-C-G |
DBH |
c.235C>G |
p.Arg79Gly |
Missense |
1/12 |
- |
5-149359991-C-T |
SLC26A2 |
c.835C>T |
p.Arg279Trp |
Missense |
3/3 |
- |
1-227174318-C-T |
COQ8A |
c.1824C>T |
p.Ser608Ser |
Synonymous |
15/15 |
- |
11-65307048-C-T |
LTBP3 |
c.3458G>A |
p.Ser1153Asn |
Missense |
25/27 |
- |
1-10502454-G-A |
CENPS |
c.409G>A |
p.Glu137Lys |
Missense |
5/5 |
- |
2-26418053-C-G |
HADHA |
c.1528G>C |
p.Glu510Gln |
Missense |
15/20 |
- |
7-143793035-C-A |
OR2A12 |
c.835C>A |
p.Leu279Ile |
Missense |
1/1 |
- |
8-16026056-T-C |
MSR1 |
c.541A>G |
p.Ile181Val |
Missense |
4/9 |
- |
7-7412808-C-A |
COL28A1 |
c.2729G>T |
p.Arg910Leu |
Missense |
32/35 |
- |
7-7412808-C-T |
COL28A1 |
c.2729G>A |
p.Arg910His |
Missense |
32/35 |
- |
3-98304403-G-T |
CPOX |
c.1054C>A |
p.Arg352Ser |
Missense |
5/7 |
- |
3-98304403-G-A |
CPOX |
c.1054C>T |
p.Arg352Cys |
Missense |
5/7 |
- |
19-9578028-C-T |
ZNF560 |
c.1595G>A |
p.Arg532His |
Missense |
10/10 |
- |
19-9578028-C-G |
ZNF560 |
c.1595G>C |
p.Arg532Pro |
Missense |
10/10 |
- |
20-60348084-C-T |
CDH4 |
c.422C>T |
p.Ala141Val |
Missense |
4/16 |
- |
4-74005598-A-G |
ANKRD17 |
c.2735T>C |
p.Leu912Pro |
Missense |
15/34 |
- |
15-72057477-G-A |
THSD4 |
c.2708G>A |
p.Ser903Asn |
Missense |
15/17 |
- |
11-108098576-C-G |
ATM |
c.146C>G |
p.Ser49Cys |
Missense |
3/63 |
- |
4-95496882-C-T |
PDLIM5 |
c.292-212C>T |
- |
IntronicSNV |
- |
4/12 |
7-1976457-C-T |
MAD1L1 |
c.1673G>A |
p.Arg558His |
Missense |
17/19 |
- |
7-1976457-C-G |
MAD1L1 |
c.1673G>C |
p.Arg558Pro |
Missense |
17/19 |
- |
20-62707975-G-C |
RGS19 |
c.55C>G |
p.Arg19Gly |
Missense |
3/6 |
- |
20-62707975-G-A |
RGS19 |
c.55C>T |
p.Arg19Trp |
Missense |
3/6 |
- |
X-9900586-G-A |
SHROOM2 |
c.3263G>A |
p.Gly1088Asp |
Missense |
6/10 |
- |
16-23646375-C-A |
PALB2 |
c.1492G>T |
p.Asp498Tyr |
Missense |
4/13 |
- |
16-23646375-C-T |
PALB2 |
c.1492G>A |
p.Asp498Asn |
Missense |
4/13 |
- |
13-73293205-G-A |
MZT1 |
c.110C>T |
p.Thr37Ile |
Missense |
2/3 |
- |
22-41257393-C-A |
XPNPEP3 |
c.64+4144C>A |
- |
IntronicSNV |
- |
1/9 |
19-43414890-C-A |
PSG6 |
c.548G>T |
p.Gly183Val |
Missense |
3/6 |
- |
3-128205754-G-C |
GATA2 |
c.121C>G |
p.Pro41Ala |
Missense |
2/6 |
- |
14-23511579-G-A |
PSMB11 |
c.145G>A |
p.Gly49Ser |
Missense |
1/1 |
- |
8-23708887-C-T |
STC1 |
c.419G>A |
p.Arg140Gln |
Missense |
3/4 |
- |
22-43195045-C-G |
ARFGAP3 |
c.1533G>C |
p.Gln511His |
Missense |
15/16 |
- |
17-41244435-T-G |
BRCA1 |
c.3113A>C |
p.Glu1038Ala |
Missense |
10/23 |
- |
20-33874600-C-T |
FAM83C |
c.1982G>A |
p.Arg661His |
Missense |
4/4 |
- |
9-130186700-C-T |
ZNF79 |
c.1-367C>T |
- |
5-UTRSNV |
1/5 |
- |
8-100994172-T-C |
RGS22 |
c.3353A>G |
p.Glu1118Gly |
Missense |
22/28 |
- |
17-35733072-C-T |
C17orf78 |
c.38C>T |
p.Ser13Phe |
Missense |
1/7 |
- |
2-197576939-G-A |
CCDC150 |
c.1766G>A |
p.Arg589His |
Missense |
16/28 |
- |
17-46939658-C-A |
CALCOCO2 |
c.1165C>A |
p.Pro389Thr |
Missense |
12/13 |
- |
17-46939658-C-G |
CALCOCO2 |
c.1165C>G |
p.Pro389Ala |
Missense |
12/13 |
- |
19-44098985-T-C |
IRGQ |
c.506A>G |
p.Gln169Arg |
Missense |
2/3 |
- |
11-102647057-C-T |
MMP10 |
c.886G>A |
p.Asp296Asn |
Missense |
6/10 |
- |
1-114448389-C-T |
DCLRE1B |
c.181C>T |
p.His61Tyr |
Missense |
1/4 |
- |
5-1225626-T-A |
SLC6A18 |
c.34T>A |
p.Cys12Ser |
Missense |
1/12 |
- |
9-125589057-G-A |
PDCL |
c.10C>T |
p.Leu4Phe |
Missense |
2/4 |
- |
14-21929371-T-G |
RAB2B |
c.497A>C |
p.Asn166Thr |
Missense |
7/7 |
- |
5-173317826-A-G |
CPEB4 |
c.1090A>G |
p.Ser364Gly |
Missense |
1/10 |
- |
4-106474097-G-A |
ARHGEF38 |
c.175G>A |
p.Glu59Lys |
Missense |
1/4 |
- |
10-5541277-T-C |
CALML5 |
c.125A>G |
p.Lys42Arg |
Missense |
1/1 |
- |
6-32089142-G-T |
ATF6B |
c.470-17C>A |
- |
IntronicSNV |
- |
5/17 |
13-32953550-G-A |
BRCA2 |
c.8851G>A |
p.Ala2951Thr |
Missense |
22/27 |
- |
20-25457055-A-G |
NINL |
c.2872T>C |
p.Trp958Arg |
Missense |
17/24 |
- |
10-104359204-C-T |
SUFU |
c.925C>T |
p.Arg309Trp |
Missense |
8/12 |
- |
12-49950220-T-C |
KCNH3 |
c.2536T>C |
p.Ser846Pro |
Missense |
13/15 |
- |
1-159858278-G-A |
CFAP45 |
c.281C>T |
p.Thr94Ile |
Missense |
4/12 |
- |
19-38742032-G-A |
PPP1R14A |
c.370C>T |
p.Leu124Phe |
Missense |
4/4 |
- |
1-114448389-C-G |
DCLRE1B |
c.181C>G |
p.His61Asp |
Missense |
1/4 |
- |
4-184930646-G-A |
STOX2 |
c.655G>A |
p.Ala219Thr |
Missense |
3/4 |
- |
17-65717525-T-C |
NOL11 |
c.344T>C |
p.Val115Ala |
Missense |
4/18 |
- |
13-32972380-G-C |
BRCA2 |
c.9730G>C |
p.Val3244Leu |
Missense |
27/27 |
- |
6-30633386-C-T |
DHX16 |
c.791G>A |
p.Arg264Gln |
Missense |
5/20 |
- |
14-61443539-C-T |
TRMT5 |
c.792+693G>A |
- |
IntronicSNV |
- |
3/4 |
17-8273026-G-A |
KRBA2 |
c.905C>T |
p.Ala302Val |
Missense |
2/2 |
- |
12-662873-C-T |
B4GALNT3 |
c.1784C>T |
p.Ala595Val |
Missense |
14/20 |
- |
17-41223094-T-A |
BRCA1 |
c.4837A>T |
p.Ser1613Cys |
Missense |
15/23 |
- |
13-32906766-C-G |
BRCA2 |
c.1151C>G |
p.Ser384Cys |
Missense |
10/27 |
- |
2-43783141-A-G |
THADA |
c.2674+343T>C |
- |
IntronicSNV |
- |
17/37 |
13-32915313-G-T |
BRCA2 |
c.6821G>T |
p.Gly2274Val |
Missense |
11/27 |
- |
14-91700405-T-A |
GPR68 |
c.990A>T |
p.Lys330Asn |
Missense |
2/2 |
- |
15-50773787-A-G |
USP8 |
c.1328A>G |
p.Asp443Gly |
Missense |
11/20 |
- |
17-59926567-C-T |
BRIP1 |
c.430G>A |
p.Ala144Thr |
Missense |
5/20 |
- |
11-65635806-T-C |
EFEMP2 |
c.934A>G |
p.Thr312Ala |
Missense |
9/11 |
- |
4-106474097-G-T |
ARHGEF38 |
c.175G>T |
p.Glu59* |
Nonsense |
1/4 |
- |
14-94121728-A-G |
UNC79 |
c.6017A>G |
p.Lys2006Arg |
Missense |
39/50 |
- |
19-58004563-G-A |
ZNF419 |
c.638G>A |
p.Gly213Asp |
Missense |
5/5 |
- |
4-74702951-C-G |
CXCL6 |
c.274C>G |
p.Leu92Val |
Missense |
3/4 |
- |
8-20107816-G-A |
LZTS1 |
c.1208C>T |
p.Thr403Met |
Missense |
4/4 |
- |
2-242065754-C-A |
PASK |
c.2576G>T |
p.Cys859Phe |
Missense |
10/18 |
- |
2-242065754-C-T |
PASK |
c.2576G>A |
p.Cys859Tyr |
Missense |
10/18 |
- |
17-41215385-T-C |
BRCA1 |
c.5158A>G |
p.Thr1720Ala |
Missense |
18/23 |
- |
6-33747892-T-C |
LEMD2 |
c.995A>G |
p.Lys332Arg |
Missense |
5/9 |
- |
19-17412365-C-T |
ABHD8 |
c.61G>A |
p.Val21Met |
Missense |
2/5 |
- |
19-17412365-C-A |
ABHD8 |
c.61G>T |
p.Val21Leu |
Missense |
2/5 |
- |
2-169764368-C-T |
G6PC2 |
c.847C>T |
p.Arg283* |
Nonsense |
5/5 |
- |
20-55108617-C-A |
FAM209B |
c.220C>A |
p.Gln74Lys |
Missense |
1/2 |
- |
12-49460450-A-G |
RHEBL1 |
c.227T>C |
p.Ile76Thr |
Missense |
4/8 |
- |
13-32906766-C-T |
BRCA2 |
c.1151C>T |
p.Ser384Phe |
Missense |
10/27 |
- |
13-32914132-T-G |
BRCA2 |
c.5640T>G |
p.Asn1880Lys |
Missense |
11/27 |
- |
18-43319519-G-A |
SLC14A1 |
c.838G>A |
p.Asp280Asn |
Missense |
8/10 |
- |
19-57723013-G-T |
ZNF264 |
c.548G>T |
p.Arg183Leu |
Missense |
4/4 |
- |
20-60963386-C-T |
RPS21 |
c.208C>T |
p.Leu70Phe |
Missense |
5/6 |
- |
6-32135136-C-T |
EGFL8 |
c.611C>T |
p.Ala204Val |
Missense |
7/9 |
- |
13-32914623-G-T |
BRCA2 |
c.6131G>T |
p.Gly2044Val |
Missense |
11/27 |
- |
13-32914623-G-C |
BRCA2 |
c.6131G>C |
p.Gly2044Ala |
Missense |
11/27 |
- |
13-32914623-G-A |
BRCA2 |
c.6131G>A |
p.Gly2044Asp |
Missense |
11/27 |
- |
6-41555240-C-T |
FOXP4 |
c.859C>T |
p.Arg287Trp |
Missense |
7/17 |
- |
6-32084485-C-G |
ATF6B |
c.1784G>C |
p.Arg595Pro |
Missense |
16/18 |
- |
1-70896038-T-C |
CTH |
c.685T>C |
p.Cys229Arg |
Missense |
7/12 |
- |
1-70896038-T-A |
CTH |
c.685T>A |
p.Cys229Ser |
Missense |
7/12 |
- |
8-126023815-A-G |
SQLE |
c.1145A>G |
p.Asn382Ser |
Missense |
7/11 |
- |
22-50682785-C-T |
TUBGCP6 |
c.104G>A |
p.Arg35Gln |
Missense |
1/25 |
- |
3-169693451-A-G |
SEC62 |
c.92A>G |
p.Asn31Ser |
Missense |
2/8 |
- |
11-134062648-C-A |
NCAPD3 |
c.1981G>T |
p.Asp661Tyr |
Missense |
16/35 |
- |
13-32911278-T-C |
BRCA2 |
c.2786T>C |
p.Leu929Ser |
Missense |
11/27 |
- |
6-123687288-A-T |
TRDN |
c.1316T>A |
p.Ile439Asn |
Missense |
20/21 |
- |
19-17476153-T-C |
PLVAP |
c.1121A>G |
p.Gln374Arg |
Missense |
3/6 |
- |
19-17476153-T-G |
PLVAP |
c.1121A>C |
p.Gln374Pro |
Missense |
3/6 |
- |
6-41903798-C-T |
CCND3 |
c.759G>A |
p.Glu253Glu |
Synonymous |
5/5 |
- |
20-30610508-A-G |
CCM2L |
c.979A>G |
p.Ile327Val |
Missense |
6/9 |
- |
1-182922215-G-C |
SHCBP1L |
c.54C>G |
p.Ser18Arg |
Missense |
1/10 |
- |
5-175793395-G-A |
ARL10 |
c.196G>A |
p.Glu66Lys |
Missense |
2/4 |
- |
22-43195045-C-A |
ARFGAP3 |
c.1533G>T |
p.Gln511His |
Missense |
15/16 |
- |
17-41243509-T-A |
BRCA1 |
c.4039A>T |
p.Arg1347* |
Nonsense |
10/23 |
- |
4-169343044-A-G |
DDX60L |
c.2261T>C |
p.Val754Ala |
Missense |
17/38 |
- |
9-140277794-T-A |
EXD3 |
c.91A>T |
p.Thr31Ser |
Missense |
3/22 |
- |
2-201853137-T-A |
FAM126B |
c.839A>T |
p.Asn280Ile |
Missense |
11/12 |
- |
1-182550360-C-T |
RNASEL |
c.1905G>A |
p.Lys635Lys |
Synonymous |
5/7 |
- |
2-172935641-T-C |
METAP1D |
c.547T>C |
p.Tyr183His |
Missense |
6/10 |
- |
6-41903798-C-G |
CCND3 |
c.759G>C |
p.Glu253Asp |
Missense |
5/5 |
- |
6-41903798-C-A |
CCND3 |
c.759G>T |
p.Glu253Asp |
Missense |
5/5 |
- |
19-55526359-A-G |
GP6 |
c.954T>C |
p.Ala318Ala |
Synonymous |
8/8 |
- |
19-55526359-A-T |
GP6 |
c.954T>A |
p.Ala318Ala |
Synonymous |
8/8 |
- |
14-69376049-C-T |
ACTN1 |
c.580G>A |
p.Gly194Arg |
Missense |
6/21 |
- |
14-69376049-C-G |
ACTN1 |
c.580G>C |
p.Gly194Arg |
Missense |
6/21 |
- |
13-32914236-C-T |
BRCA2 |
c.5744C>T |
p.Thr1915Met |
Missense |
11/27 |
- |
10-63845583-C-A |
ARID5B |
c.1322C>A |
p.Thr441Asn |
Missense |
9/10 |
- |
10-63845583-C-T |
ARID5B |
c.1322C>T |
p.Thr441Ile |
Missense |
9/10 |
- |
6-136683810-G-C |
MAP7 |
c.1304C>G |
p.Ser435Trp |
Missense |
11/18 |
- |
6-136683810-G-A |
MAP7 |
c.1304C>T |
p.Ser435Leu |
Missense |
11/18 |
- |
17-41106983-T-C |
AARSD1 |
c.863A>G |
p.Asn288Ser |
Missense |
9/12 |
- |
16-3642817-C-T |
SLX4 |
c.2210G>A |
p.Arg737His |
Missense |
11/15 |
- |
20-60963386-C-G |
RPS21 |
c.208C>G |
p.Leu70Val |
Missense |
5/6 |
- |
11-68703974-G-A |
IGHMBP2 |
c.2026G>A |
p.Gly676Arg |
Missense |
13/15 |
- |
17-41244465-C-T |
BRCA1 |
c.3083G>A |
p.Arg1028His |
Missense |
10/23 |
- |
2-43553949-T-C |
THADA |
c.4344-6270A>G |
- |
IntronicSNV |
- |
30/37 |
17-41245471-C-A |
BRCA1 |
c.2077G>T |
p.Asp693Tyr |
Missense |
10/23 |
- |
12-27916320-G-A |
MANSC4 |
c.374C>T |
p.Pro125Leu |
Missense |
3/3 |
- |
7-47436435-C-T |
TNS3 |
c.986G>A |
p.Arg329His |
Missense |
16/31 |
- |
2-198631714-G-A |
BOLL |
c.481-387C>T |
- |
IntronicSNV |
- |
6/10 |
7-47436435-C-G |
TNS3 |
c.986G>C |
p.Arg329Pro |
Missense |
16/31 |
- |
7-47436435-C-A |
TNS3 |
c.986G>T |
p.Arg329Leu |
Missense |
16/31 |
- |
19-51527970-C-G |
KLK11 |
c.121G>C |
p.Glu41Gln |
Missense |
3/6 |
- |
3-30682939-G-C |
TGFBR2 |
c.170-3300G>C |
- |
IntronicSNV |
- |
2/7 |
12-49992692-G-A |
FAM186B |
c.2210C>T |
p.Thr737Met |
Missense |
5/7 |
- |
1-10068261-A-G |
RBP7 |
c.283A>G |
p.Thr95Ala |
Missense |
3/4 |
- |
19-51527970-C-T |
KLK11 |
c.121G>A |
p.Glu41Lys |
Missense |
3/6 |
- |
1-95363001-T-A |
CNN3 |
c.*297A>T |
- |
3-UTRSNV |
7/7 |
- |
17-41246121-T-C |
BRCA1 |
c.1427A>G |
p.His476Arg |
Missense |
10/23 |
- |
22-29141906-C-A |
HSCB |
c.478C>A |
p.Gln160Lys |
Missense |
4/6 |
- |
17-58235748-T-C |
CA4 |
c.685T>C |
p.Cys229Arg |
Missense |
7/8 |
- |
17-59885956-G-C |
BRIP1 |
c.790C>G |
p.Arg264Gly |
Missense |
7/20 |
- |
1-204429727-C-T |
PIK3C2B |
c.1373G>A |
p.Arg458Gln |
Missense |
7/34 |
- |
13-32972380-G-A |
BRCA2 |
c.9730G>A |
p.Val3244Ile |
Missense |
27/27 |
- |
20-52192637-T-A |
ZNF217 |
c.2666A>T |
p.Asp889Val |
Missense |
3/5 |
- |
3-87018099-T-C |
VGLL3 |
c.578A>G |
p.His193Arg |
Missense |
3/4 |
- |
3-87018099-T-A |
VGLL3 |
c.578A>T |
p.His193Leu |
Missense |
3/4 |
- |
6-150052778-A-G |
NUP43 |
c.884T>C |
p.Val295Ala |
Missense |
7/8 |
- |
6-150052778-A-T |
NUP43 |
c.884T>A |
p.Val295Glu |
Missense |
7/8 |
- |
6-149903597-A-G |
GINM1 |
c.739A>G |
p.Lys247Glu |
Missense |
7/8 |
- |
2-165552167-T-A |
COBLL1 |
c.1849A>T |
p.Asn617Tyr |
Missense |
12/14 |
- |
2-165552167-T-C |
COBLL1 |
c.1849A>G |
p.Asn617Asp |
Missense |
12/14 |
- |
2-172691260-C-T |
SLC25A12 |
c.728G>A |
p.Arg243Lys |
Missense |
7/18 |
- |
22-24567910-C-T |
CABIN1 |
c.5987C>T |
p.Pro1996Leu |
Missense |
34/37 |
- |
1-182551266-C-T |
RNASEL |
c.1694G>A |
p.Arg565His |
Missense |
4/7 |
- |
12-70949014-G-A |
PTPRB |
c.5069C>T |
p.Thr1690Ile |
Missense |
20/34 |
- |
5-131911520-G-A |
RAD50 |
c.265G>A |
p.Val89Ile |
Missense |
3/25 |
- |
10-103988612-G-T |
ELOVL3 |
c.416G>T |
p.Arg139Leu |
Missense |
4/4 |
- |
14-95582086-C-A |
DICER1 |
c.1825G>T |
p.Asp609Tyr |
Missense |
13/29 |
- |
10-103988612-G-A |
ELOVL3 |
c.416G>A |
p.Arg139Gln |
Missense |
4/4 |
- |
17-54559801-G-A |
ANKFN1 |
c.2185G>A |
p.Asp729Asn |
Missense |
17/17 |
- |
8-95183191-G-A |
CDH17 |
c.806C>T |
p.Ala269Val |
Missense |
8/18 |
- |
13-32937488-G-T |
BRCA2 |
c.8149G>T |
p.Ala2717Ser |
Missense |
18/27 |
- |
1-204587589-C-T |
LRRN2 |
c.1532G>A |
p.Ser511Asn |
Missense |
3/3 |
- |
21-46950811-C-A |
SLC19A1 |
c.1024G>T |
p.Val342Phe |
Missense |
4/6 |
- |
11-108170506-A-C |
ATM |
c.5071A>C |
p.Ser1691Arg |
Missense |
34/63 |
- |
6-30633386-C-G |
DHX16 |
c.791G>C |
p.Arg264Pro |
Missense |
5/20 |
- |
6-30633386-C-A |
DHX16 |
c.791G>T |
p.Arg264Leu |
Missense |
5/20 |
- |
11-129782042-C-T |
PRDM10 |
c.2920G>A |
p.Ala974Thr |
Missense |
18/21 |
- |
15-89837098-A-G |
FANCI |
c.2326A>G |
p.Met776Val |
Missense |
23/37 |
- |
7-143772205-G-A |
OR2A25 |
c.893G>A |
p.Gly298Asp |
Missense |
1/1 |
- |
12-112110489-T-C |
BRAP |
c.723A>G |
p.Arg241Arg |
Synonymous |
5/12 |
- |
11-108138039-A-G |
ATM |
c.2608A>G |
p.Asn870Asp |
Missense |
17/63 |
- |
X-10180692-C-T |
CLCN4 |
c.1293C>T |
p.Leu431Leu |
Synonymous |
8/11 |
- |
11-1861852-C-T |
TNNI2 |
c.152C>T |
p.Pro51Leu |
Missense |
5/8 |
- |
17-63683-G-A |
RPH3AL |
c.908C>T |
p.Ala303Val |
Missense |
10/10 |
- |
20-62494241-G-C |
ABHD16B |
c.1348G>C |
p.Val450Leu |
Missense |
1/1 |
- |
7-86990819-A-C |
CROT |
c.354A>C |
p.Glu118Asp |
Missense |
5/18 |
- |
19-16918460-G-A |
NWD1 |
c.3800G>A |
p.Arg1267His |
Missense |
18/19 |
- |
7-15725995-G-A |
MEOX2 |
c.33C>T |
p.Ser11Ser |
Synonymous |
1/3 |
- |
7-100014711-T-C |
ZCWPW1 |
c.457A>G |
p.Thr153Ala |
Missense |
6/18 |
- |
16-23641461-C-G |
PALB2 |
c.2014G>C |
p.Glu672Gln |
Missense |
5/13 |
- |
16-23641461-C-T |
PALB2 |
c.2014G>A |
p.Glu672Lys |
Missense |
5/13 |
- |
22-41166855-G-A |
SLC25A17 |
c.907C>T |
p.Arg303Cys |
Missense |
9/9 |
- |
22-41166855-G-C |
SLC25A17 |
c.907C>G |
p.Arg303Gly |
Missense |
9/9 |
- |
20-60768573-C-T |
MTG2 |
c.97C>T |
p.Arg33Trp |
Missense |
2/7 |
- |
14-60923783-C-T |
C14orf39 |
c.1210G>A |
p.Val404Ile |
Missense |
15/18 |
- |
14-60923783-C-G |
C14orf39 |
c.1210G>C |
p.Val404Leu |
Missense |
15/18 |
- |
1-204170801-C-A |
GOLT1A |
c.256G>T |
p.Gly86Cys |
Missense |
3/5 |
- |
2-31417290-T-G |
CAPN14 |
c.935A>C |
p.Asn312Thr |
Missense |
9/22 |
- |
2-31417290-T-C |
CAPN14 |
c.935A>G |
p.Asn312Ser |
Missense |
9/22 |
- |
1-155233763-C-T |
CLK2 |
c.1292G>A |
p.Arg431His |
Missense |
12/13 |
- |
10-74100811-C-T |
DNAJB12 |
c.575G>A |
- |
missense_variant |
4/8 |
- |
17-35944801-C-T |
SYNRG |
c.544G>A |
p.Asp182Asn |
Missense |
6/22 |
- |
20-32251396-A-T |
NECAB3 |
c.388-3195T>A |
- |
IntronicSNV |
- |
5/12 |
19-56370608-A-G |
NLRP4 |
c.1849A>G |
p.Ser617Gly |
Missense |
3/10 |
- |
22-39138332-G-T |
SUN2 |
c.1105C>A |
p.Arg369Ser |
Missense |
9/18 |
- |
11-2321829-C-T |
C11orf21 |
c.206G>A |
p.Trp69* |
Nonsense |
3/5 |
- |
6-133105120-C-T |
SLC18B1 |
c.610G>A |
p.Val204Ile |
Missense |
6/14 |
- |
3-124462824-A-G |
UMPS |
c.1336A>G |
p.Ile446Val |
Missense |
6/6 |
- |
13-32914817-G-A |
BRCA2 |
c.6325G>A |
p.Val2109Ile |
Missense |
11/27 |
- |
1-155912426-A-G |
RXFP4 |
c.926A>G |
p.Tyr309Cys |
Missense |
1/1 |
- |
X-7268296-C-G |
STS |
c.1746C>G |
p.Ser582Arg |
Missense |
10/10 |
- |
5-1035555-G-A |
NKD2 |
c.626G>A |
p.Arg209Lys |
Missense |
8/10 |
- |
10-6066302-G-A |
IL2RA |
c.272C>T |
p.Thr91Met |
Missense |
3/8 |
- |
19-17638121-G-A |
FAM129C |
c.65G>A |
p.Gly22Glu |
Missense |
2/16 |
- |
16-53860253-G-A |
FTO |
c.601G>A |
p.Val201Ile |
Missense |
3/9 |
- |
2-85808746-G-C |
VAMP8 |
c.210G>C |
p.Trp70Cys |
Missense |
3/3 |
- |
11-69588175-G-A |
FGF4 |
c.523C>T |
p.Pro175Ser |
Missense |
3/3 |
- |
17-53076799-G-A |
STXBP4 |
c.274G>A |
p.Gly92Arg |
Missense |
5/18 |
- |
4-108948869-G-A |
HADH |
c.662G>A |
p.Arg221His |
Missense |
6/8 |
- |
14-25102160-C-T |
GZMB |
c.164G>A |
p.Arg55Gln |
Missense |
2/5 |
- |
1-204587589-C-A |
LRRN2 |
c.1532G>T |
p.Ser511Ile |
Missense |
3/3 |
- |
6-32147691-G-A |
RNF5 |
c.310G>A |
p.Ala104Thr |
Missense |
4/6 |
- |
19-51485072-C-T |
KLK7 |
c.172G>A |
p.Val58Ile |
Missense |
3/6 |
- |
2-242289584-G-A |
SEPT2 |
c.1081G>A |
p.Val361Met |
Missense |
12/13 |
- |
1-204135325-G-A |
REN |
c.97C>T |
p.Arg33Trp |
Missense |
1/10 |
- |
12-95602704-C-T |
FGD6 |
c.2356G>A |
p.Ala786Thr |
Missense |
2/21 |
- |
3-93598157-A-G |
PROS1 |
c.1494T>C |
p.Asn498Asn |
Synonymous |
13/15 |
- |
10-123730454-T-C |
NSMCE4A |
c.501A>G |
p.Leu167Leu |
Synonymous |
3/11 |
- |
11-113078035-C-T |
NCAM1 |
c.681C>T |
- |
synonymous_variant |
7/20 |
- |
11-61908440-T-C |
INCENP |
c.1517T>C |
p.Met506Thr |
Missense |
10/18 |
- |
6-90899561-G-C |
BACH2 |
c.-162+16727C>G |
- |
intron_variant |
- |
4/8 |
19-39098766-G-A |
MAP4K1 |
c.1051C>T |
p.Pro351Ser |
Missense |
14/31 |
- |
14-105406024-G-C |
AHNAK2 |
c.15764C>G |
p.Ala5255Gly |
Missense |
7/7 |
- |
13-32937333-A-G |
BRCA2 |
c.7994A>G |
p.Asp2665Gly |
Missense |
18/27 |
- |
1-155145097-T-C |
KRTCAP2 |
c.245A>G |
p.Asn82Ser |
Missense |
3/5 |
- |
2-27424304-C-T |
SLC5A6 |
c.1562G>A |
p.Arg521Gln |
Missense |
15/17 |
- |
16-23646191-T-C |
PALB2 |
c.1676A>G |
p.Gln559Arg |
Missense |
4/13 |
- |
16-23646191-T-A |
PALB2 |
c.1676A>T |
p.Gln559Leu |
Missense |
4/13 |
- |
1-155180178-G-C |
MTX1 |
c.570G>C |
p.Lys190Asn |
Missense |
2/7 |
- |
20-1551621-T-C |
SIRPB1 |
c.914A>G |
p.Lys305Arg |
Missense |
4/6 |
- |
19-55748338-G-A |
PPP6R1 |
c.1752C>T |
p.Asn584Asn |
Synonymous |
16/24 |
- |
9-124116908-C-T |
STOM |
c.209G>A |
p.Arg70His |
Missense |
3/7 |
- |
2-21001160-C-T |
LDAH |
c.64G>A |
p.Glu22Lys |
Missense |
2/7 |
- |
11-108142070-A-G |
ATM |
c.3014A>G |
p.Asn1005Ser |
Missense |
20/63 |
- |
22-43568512-C-G |
TTLL12 |
c.1390G>C |
p.Val464Leu |
Missense |
10/14 |
- |
6-32546879-A-G |
HLA-DRB1 |
c.790T>C |
p.Phe264Leu |
Missense |
6/6 |
- |
7-149462627-G-A |
ZNF467 |
c.964C>T |
p.His322Tyr |
Missense |
5/5 |
- |
1-114301286-T-C |
PHTF1 |
c.40A>G |
p.Lys14Glu |
Missense |
1/18 |
- |
11-61908440-T-A |
INCENP |
c.1517T>A |
p.Met506Lys |
Missense |
10/18 |
- |
4-169300938-C-T |
DDX60L |
c.4160G>A |
p.Arg1387Gln |
Missense |
31/38 |
- |
5-1880891-C-T |
IRX4 |
c.355G>A |
p.Ala119Thr |
Missense |
3/5 |
- |
5-1880891-C-G |
IRX4 |
c.355G>C |
p.Ala119Pro |
Missense |
3/5 |
- |
14-68193731-G-A |
RDH12 |
c.482G>A |
p.Arg161Gln |
Missense |
7/9 |
- |
11-55322500-C-T |
OR4C15 |
c.556C>T |
- |
missense_variant |
1/1 |
- |
18-7231881-A-G |
LRRC30 |
c.745A>G |
p.Ser249Gly |
Missense |
1/1 |
- |
11-59834583-A-C |
MS4A3 |
c.142A>C |
p.Asn48His |
Missense |
3/5 |
- |
7-134849280-T-C |
TMEM140 |
c.87T>C |
p.Phe29Phe |
Synonymous |
2/2 |
- |
7-134849280-T-A |
TMEM140 |
c.87T>A |
p.Phe29Leu |
Missense |
2/2 |
- |
1-203768328-T-C |
ZBED6 |
c.1678T>C |
p.Phe560Leu |
Missense |
1/1 |
- |
8-18257583-T-A |
NAT2 |
c.70T>A |
p.Leu24Ile |
Missense |
2/2 |
- |
6-31731298-A-G |
SAPCD1 |
c.221A>G |
p.Gln74Arg |
Missense |
2/5 |
- |
5-136816816-C-T |
SPOCK1 |
c.186+17246G>A |
- |
IntronicSNV |
- |
2/10 |
1-44365241-G-T |
ST3GAL3 |
c.793G>T |
p.Glu265* |
Nonsense |
10/13 |
- |
19-17438569-C-T |
ANO8 |
c.2347G>A |
p.Asp783Asn |
Missense |
14/18 |
- |
20-61981048-T-C |
CHRNA4 |
c.1715A>G |
p.Gln572Arg |
Missense |
5/6 |
- |
13-32911452-A-T |
BRCA2 |
c.2960A>T |
p.Asn987Ile |
Missense |
11/27 |
- |
13-32930598-T-C |
BRCA2 |
c.7469T>C |
p.Ile2490Thr |
Missense |
15/27 |
- |
6-46996760-G-A |
ADGRF1 |
c.38C>T |
p.Thr13Ile |
Missense |
2/15 |
- |
1-89726438-G-A |
GBP5 |
c.1710C>T |
p.Leu570Leu |
Synonymous |
12/12 |
- |
17-41246061-C-A |
BRCA1 |
c.1487G>T |
p.Arg496Leu |
Missense |
10/23 |
- |
17-41246061-C-T |
BRCA1 |
c.1487G>A |
p.Arg496His |
Missense |
10/23 |
- |
X-3228966-C-G |
MXRA5 |
c.7278G>C |
p.Glu2426Asp |
Missense |
7/7 |
- |
11-1080391-G-A |
MUC2 |
c.1111G>A |
p.Glu371Lys |
Missense |
8/51 |
- |
16-53528057-C-T |
AKTIP |
c.703G>A |
p.Ala235Thr |
Missense |
8/10 |
- |
17-902207-A-G |
TIMM22 |
c.427A>G |
p.Ile143Val |
Missense |
2/4 |
- |
5-70308554-C-A |
NAIP |
c.189G>T |
p.Arg63Ser |
Missense |
4/17 |
- |
8-16032808-A-G |
MSR1 |
c.105T>C |
p.Asn35Asn |
Synonymous |
3/9 |
- |
19-44118353-G-A |
SRRM5 |
c.2080G>A |
p.Asp694Asn |
Missense |
1/1 |
- |
3-141011859-G-A |
PXYLP1 |
c.1255G>A |
p.Val419Ile |
Missense |
8/8 |
- |
9-136599026-C-G |
SARDH |
c.270G>C |
p.Met90Ile |
Missense |
2/21 |
- |
1-154920822-G-A |
PBXIP1 |
c.430C>T |
p.Arg144Cys |
Missense |
6/11 |
- |
1-110996652-C-A |
PROK1 |
c.142C>A |
p.Arg48Arg |
Synonymous |
2/3 |
- |
11-69514056-C-T |
FGF19 |
c.625G>A |
p.Val209Met |
Missense |
3/3 |
- |
13-32914920-C-T |
BRCA2 |
c.6428C>T |
p.Ser2143Leu |
Missense |
11/27 |
- |
13-32914920-C-A |
BRCA2 |
c.6428C>A |
p.Ser2143* |
Nonsense |
11/27 |
- |
13-32914920-C-G |
BRCA2 |
c.6428C>G |
p.Ser2143* |
Nonsense |
11/27 |
- |
3-30713834-G-T |
TGFBR2 |
c.1234G>T |
p.Val412Leu |
Missense |
5/8 |
- |
12-53624954-C-G |
RARG |
c.-144G>C |
- |
splice_region_variant,5_prime_UTR_variant |
2/10 |
- |
12-53624954-C-A |
RARG |
c.-144G>T |
- |
splice_region_variant,5_prime_UTR_variant |
2/10 |
- |
11-43911365-T-C |
ALKBH3 |
c.357T>C |
p.Thr119Thr |
Synonymous |
6/10 |
- |
1-179398726-A-G |
AXDND1 |
c.1304A>G |
p.Lys435Arg |
Missense |
13/26 |
- |
5-151784533-C-A |
NMUR2 |
c.142G>T |
p.Val48Leu |
Missense |
1/4 |
- |
3-52731828-C-T |
GLT8D1 |
c.238G>A |
p.Ala80Thr |
Missense |
4/10 |
- |
14-75322794-G-A |
PROX2 |
c.927+710C>T |
- |
IntronicSNV |
- |
2/2 |
22-29169729-A-G |
CCDC117 |
c.202A>G |
p.Lys68Glu |
Missense |
2/5 |
- |
13-32930633-C-A |
BRCA2 |
c.7504C>A |
p.Arg2502Ser |
Missense |
15/27 |
- |
11-108106399-G-A |
ATM |
c.334G>A |
p.Ala112Thr |
Missense |
5/63 |
- |
13-51417535-G-C |
DLEU7 |
c.248C>G |
p.Ala83Gly |
Missense |
1/2 |
- |
19-44103288-C-T |
ZNF576 |
c.391C>T |
p.Arg131Cys |
Missense |
3/3 |
- |
10-22498209-A-G |
EBLN1 |
c.704T>C |
p.Met235Thr |
Missense |
1/1 |
- |
8-23148940-G-A |
R3HCC1 |
c.919G>A |
- |
missense_variant |
5/8 |
- |
1-156713558-G-T |
HDGF |
c.602C>A |
p.Pro201His |
Missense |
5/6 |
- |
11-108128246-T-A |
ATM |
c.2289T>A |
p.Phe763Leu |
Missense |
15/63 |
- |
11-102562624-G-T |
MMP27 |
c.1415C>A |
p.Ser472* |
Nonsense |
10/10 |
- |
11-102562624-G-C |
MMP27 |
c.1415C>G |
p.Ser472* |
Nonsense |
10/10 |
- |
14-53372330-T-C |
FERMT2 |
c.392-12185A>G |
- |
IntronicSNV |
- |
3/14 |
3-38355325-G-A |
SLC22A14 |
c.1271G>A |
p.Arg424Gln |
Missense |
7/10 |
- |
19-18710506-C-T |
CRLF1 |
c.266G>A |
p.Arg89His |
Missense |
2/9 |
- |
2-188332602-T-C |
TFPI |
c.686A>G |
p.Asn229Ser |
Missense |
7/8 |
- |
22-41257469-T-C |
XPNPEP3 |
c.64+4220T>C |
- |
IntronicSNV |
- |
1/9 |
7-143772205-G-C |
OR2A25 |
c.893G>C |
p.Gly298Ala |
Missense |
1/1 |
- |
15-51763587-G-A |
DMXL2 |
c.7222C>T |
p.Leu2408Phe |
Missense |
29/43 |
- |
6-32629755-G-T |
HLA-DQB1 |
c.650C>A |
p.Thr217Asn |
Missense |
3/5 |
- |
6-32629755-G-A |
HLA-DQB1 |
c.650C>T |
p.Thr217Ile |
Missense |
3/5 |
- |
2-210559865-G-A |
MAP2 |
c.455-5136G>A |
- |
IntronicSNV |
- |
7/14 |
9-21854739-G-A |
MTAP |
c.560G>A |
p.Arg187His |
Missense |
6/8 |
- |
17-649232-C-T |
GEMIN4 |
c.2051G>A |
p.Arg684Gln |
Missense |
2/2 |
- |
19-43414890-C-G |
PSG6 |
c.548G>C |
p.Gly183Ala |
Missense |
3/6 |
- |
1-47726087-T-C |
STIL |
c.2951A>G |
p.His984Arg |
Missense |
16/17 |
- |
20-52193088-C-T |
ZNF217 |
c.2215G>A |
p.Val739Ile |
Missense |
3/5 |
- |
5-131923710-G-A |
RAD50 |
c.980G>A |
p.Arg327His |
Missense |
7/25 |
- |
11-102076653-C-T |
YAP1 |
c.718C>T |
p.Pro240Ser |
Missense |
4/7 |
- |
3-52833219-G-C |
ITIH3 |
c.789+112G>C |
- |
IntronicSNV |
- |
7/21 |
13-51417535-G-A |
DLEU7 |
c.248C>T |
p.Ala83Val |
Missense |
1/2 |
- |
10-64573956-G-A |
EGR2 |
c.442C>T |
p.Pro148Ser |
Missense |
2/2 |
- |
12-53242695-C-G |
KRT78 |
c.20G>C |
p.Arg7Pro |
Missense |
1/9 |
- |
7-27570906-A-G |
HIBADH |
c.757T>C |
p.Ser253Pro |
Missense |
7/8 |
- |
1-52344157-G-A |
NRDC |
c.131C>T |
p.Pro44Leu |
Missense |
1/33 |
- |
20-32996559-A-G |
ITCH |
c.173A>G |
p.Asn58Ser |
Missense |
4/26 |
- |
3-183508714-G-A |
YEATS2 |
c.3043G>A |
p.Ala1015Thr |
Missense |
21/31 |
- |
7-100681751-A-G |
MUC17 |
c.7054A>G |
p.Ser2352Gly |
Missense |
3/13 |
- |
16-23647146-T-C |
PALB2 |
c.721A>G |
p.Asn241Asp |
Missense |
4/13 |
- |
9-117552885-T-C |
TNFSF15 |
c.603A>G |
p.Val201Val |
Synonymous |
4/4 |
- |
1-32669645-C-T |
CCDC28B |
c.330C>T |
p.Phe110Phe |
Synonymous |
3/6 |
- |
1-227946805-C-T |
SNAP47 |
c.742C>T |
p.Pro248Ser |
Missense |
3/5 |
- |
19-5590371-C-A |
SAFB2 |
c.2443G>T |
p.Gly815Cys |
Missense |
18/21 |
- |
19-5590371-C-T |
SAFB2 |
c.2443G>A |
p.Gly815Ser |
Missense |
18/21 |
- |
8-27457479-C-T |
CLU |
c.982G>A |
p.Asp328Asn |
Missense |
7/9 |
- |
12-81661822-C-T |
PPFIA2 |
c.3355G>A |
p.Ala1119Thr |
Missense |
28/31 |
- |
3-141535608-C-A |
GRK7 |
c.1378C>A |
p.Pro460Thr |
Missense |
4/4 |
- |
12-49318391-G-A |
FKBP11 |
c.236C>T |
p.Thr79Ile |
Missense |
3/6 |
- |
22-25010855-A-G |
GGT1 |
c.277A>G |
p.Ile93Val |
Missense |
6/16 |
- |
6-90899561-G-A |
BACH2 |
c.-162+16727C>T |
- |
intron_variant |
- |
4/8 |
11-108114727-G-C |
ATM |
c.544G>C |
p.Val182Leu |
Missense |
6/63 |
- |
1-154898899-C-T |
PMVK |
c.373G>A |
p.Val125Met |
Missense |
4/5 |
- |
22-50303554-T-C |
ALG12 |
c.652A>G |
p.Ile218Val |
Missense |
5/10 |
- |
2-238725833-A-G |
RBM44 |
c.274A>G |
p.Ser92Gly |
Missense |
3/16 |
- |
3-183508590-A-G |
YEATS2 |
c.2919A>G |
p.Glu973Glu |
Synonymous |
21/31 |
- |
13-32968922-T-C |
BRCA2 |
c.9353T>C |
p.Met3118Thr |
Missense |
25/27 |
- |
1-228548255-G-C |
OBSCN |
c.19662G>C |
p.Leu6554Phe |
Missense |
81/81 |
- |
11-108141988-T-C |
ATM |
c.2932T>C |
p.Ser978Pro |
Missense |
20/63 |
- |
18-13057655-C-T |
CEP192 |
c.4180C>T |
p.Leu1394Phe |
Missense |
20/45 |
- |
18-13057655-C-G |
CEP192 |
c.4180C>G |
p.Leu1394Val |
Missense |
20/45 |
- |
19-19042397-G-T |
HOMER3 |
c.728C>A |
p.Thr243Asn |
Missense |
8/10 |
- |
6-117686781-A-G |
ROS1 |
c.2936T>C |
p.Val979Ala |
Missense |
19/43 |
- |
1-155110700-G-C |
SLC50A1 |
c.609G>C |
p.Trp203Cys |
Missense |
6/6 |
- |
X-9814135-G-A |
SHROOM2 |
c.166-27557G>A |
- |
IntronicSNV |
- |
1/9 |
2-21228386-G-A |
APOB |
c.11354C>T |
p.Thr3785Ile |
Missense |
26/29 |
- |
17-41215948-G-T |
BRCA1 |
c.5095C>A |
p.Arg1699Arg |
Synonymous |
17/23 |
- |
20-52192637-T-C |
ZNF217 |
c.2666A>G |
p.Asp889Gly |
Missense |
3/5 |
- |
16-23647569-G-C |
PALB2 |
c.298C>G |
p.Leu100Val |
Missense |
4/13 |
- |
16-23647569-G-A |
PALB2 |
c.298C>T |
p.Leu100Phe |
Missense |
4/13 |
- |
16-27772891-C-T |
KIAA0556 |
c.3789C>T |
p.Asp1263Asp |
Synonymous |
19/28 |
- |
19-18304123-G-A |
MPV17L2 |
c.32G>A |
p.Arg11His |
Missense |
1/5 |
- |
1-179398726-A-T |
AXDND1 |
c.1304A>T |
p.Lys435Met |
Missense |
13/26 |
- |
6-32123494-G-A |
PPT2 |
c.385G>A |
p.Val129Ile |
Missense |
4/9 |
- |
2-172841213-C-T |
HAT1 |
c.941C>T |
p.Ala314Val |
Missense |
9/11 |
- |
12-44130330-G-A |
PUS7L |
c.1579C>T |
p.Arg527Cys |
Missense |
7/9 |
- |
1-154941263-G-C |
SHC1 |
c.614C>G |
p.Ala205Gly |
Missense |
3/12 |
- |
1-154941263-G-A |
SHC1 |
c.614C>T |
p.Ala205Val |
Missense |
3/12 |
- |
12-44130330-G-T |
PUS7L |
c.1579C>A |
p.Arg527Ser |
Missense |
7/9 |
- |
16-23634435-A-G |
PALB2 |
c.2851T>C |
p.Ser951Pro |
Missense |
9/13 |
- |
2-120889198-A-T |
EPB41L5 |
c.1506A>T |
p.Leu502Phe |
Missense |
18/25 |
- |
2-120889198-A-C |
EPB41L5 |
c.1506A>C |
p.Leu502Phe |
Missense |
18/25 |
- |
11-62381076-C-T |
ROM1 |
c.323C>T |
p.Thr108Met |
Missense |
1/3 |
- |
6-30892377-G-T |
VARS2 |
c.2673+40G>T |
- |
IntronicSNV |
- |
26/29 |
6-30892377-G-C |
VARS2 |
c.2673+40G>C |
- |
IntronicSNV |
- |
26/29 |
2-101023110-C-A |
CHST10 |
c.28G>T |
p.Ala10Ser |
Missense |
3/7 |
- |
19-17611563-G-C |
SLC27A1 |
c.1514G>C |
p.Arg505Pro |
Missense |
10/12 |
- |
19-17611563-G-A |
SLC27A1 |
c.1514G>A |
p.Arg505Gln |
Missense |
10/12 |
- |
10-123256135-G-A |
FGFR2 |
c.1774C>T |
p.Arg592Cys |
Missense |
13/18 |
- |
16-23637715-G-T |
PALB2 |
c.2590C>A |
p.Pro864Thr |
Missense |
7/13 |
- |
16-23637715-G-A |
PALB2 |
c.2590C>T |
p.Pro864Ser |
Missense |
7/13 |
- |
4-108853107-C-T |
CYP2U1 |
c.308C>T |
p.Pro103Leu |
Missense |
1/5 |
- |
14-92336674-C-T |
FBLN5 |
c.1241G>A |
p.Arg414Gln |
Missense |
11/11 |
- |
2-26455089-G-A |
HADHA |
c.512C>T |
p.Thr171Ile |
Missense |
6/20 |
- |
6-123126138-T-C |
SMPDL3A |
c.823T>C |
p.Leu275Leu |
Synonymous |
6/8 |
- |
17-47436749-G-C |
ZNF652 |
c.-259+3026C>G |
- |
intron_variant |
- |
1/5 |
6-13321280-G-A |
TBC1D7 |
c.241C>T |
p.Arg81Cys |
Missense |
4/8 |
- |
2-242651459-C-T |
ING5 |
c.455C>T |
p.Thr152Ile |
Missense |
5/8 |
- |
18-72344002-G-C |
ZNF407 |
c.1027G>C |
p.Glu343Gln |
Missense |
1/8 |
- |
11-108106443-T-A |
ATM |
c.378T>A |
p.Asp126Glu |
Missense |
5/63 |
- |
19-51519225-C-T |
KLK10 |
c.457G>A |
p.Val153Ile |
Missense |
4/6 |
- |
16-71509207-A-C |
ZNF19 |
c.1243T>G |
p.Cys415Gly |
Missense |
6/6 |
- |
2-201853137-T-C |
FAM126B |
c.839A>G |
p.Asn280Ser |
Missense |
11/12 |
- |
11-108128319-A-C |
ATM |
c.2362A>C |
p.Ser788Arg |
Missense |
15/63 |
- |
16-30004603-T-G |
HIRIP3 |
c.1596A>C |
p.Glu532Asp |
Missense |
7/7 |
- |
5-150441761-T-C |
TNIP1 |
c.284A>G |
p.Asn95Ser |
Missense |
4/18 |
- |
19-44418824-C-T |
ZNF45 |
c.764G>A |
p.Arg255Lys |
Missense |
10/10 |
- |
11-284328-G-A |
NLRP6 |
c.2300G>A |
p.Arg767Lys |
Missense |
6/8 |
- |
4-95229793-C-T |
HPGDS |
c.328G>A |
p.Asp110Asn |
Missense |
4/6 |
- |
2-242716387-G-A |
GAL3ST2 |
c.17G>A |
p.Gly6Asp |
Missense |
1/4 |
- |
6-32135136-C-A |
EGFL8 |
c.611C>A |
p.Ala204Glu |
Missense |
7/9 |
- |
19-43920564-C-T |
TEX101 |
c.302C>T |
p.Pro101Leu |
Missense |
7/9 |
- |
19-43920564-C-A |
TEX101 |
c.302C>A |
p.Pro101Gln |
Missense |
7/9 |
- |
1-10179610-A-G |
UBE4B |
c.991A>G |
p.Ile331Val |
Missense |
8/27 |
- |
13-32911463-A-G |
BRCA2 |
c.2971A>G |
p.Asn991Asp |
Missense |
11/27 |
- |
7-143657547-A-G |
OR2F1 |
c.484A>G |
p.Ile162Val |
Missense |
1/1 |
- |
19-41869392-T-C |
B9D2 |
c.33A>G |
p.Ile11Met |
Missense |
2/4 |
- |
12-96360285-C-T |
AMDHD1 |
c.1192C>T |
p.Arg398* |
Nonsense |
8/9 |
- |
6-31237124-T-A |
HLA-C |
c.1087A>T |
p.Thr363Ser |
Missense |
7/8 |
- |
19-44740441-C-T |
ZNF227 |
c.1858C>T |
p.Arg620Trp |
Missense |
6/6 |
- |
7-143826678-C-T |
OR2A14 |
c.473C>T |
p.Pro158Leu |
Missense |
1/1 |
- |
14-94545604-C-T |
DDX24 |
c.485G>A |
p.Gly162Glu |
Missense |
2/9 |
- |
14-94545604-C-A |
DDX24 |
c.485G>T |
p.Gly162Val |
Missense |
2/9 |
- |
3-132247160-T-G |
DNAJC13 |
c.6509T>G |
p.Leu2170Trp |
Missense |
54/56 |
- |
10-126631207-G-A |
ZRANB1 |
c.145G>A |
p.Val49Ile |
Missense |
1/9 |
- |
1-202279464-G-A |
LGR6 |
c.1390G>A |
p.Ala464Thr |
Missense |
16/18 |
- |
2-21263886-A-G |
APOB |
c.307T>C |
p.Tyr103His |
Missense |
4/29 |
- |
10-51584682-C-T |
NCOA4 |
c.781C>T |
p.Leu261Phe |
Missense |
8/10 |
- |
19-18468230-C-G |
PGPEP1 |
c.242C>G |
p.Thr81Arg |
Missense |
4/5 |
- |
17-59821830-C-G |
BRIP1 |
c.2220G>C |
p.Gln740His |
Missense |
15/20 |
- |
17-59821830-C-A |
BRIP1 |
c.2220G>T |
p.Gln740His |
Missense |
15/20 |
- |
2-242690675-G-A |
D2HGDH |
c.1012G>A |
p.Val338Ile |
Missense |
8/10 |
- |
8-39468128-A-T |
ADAM18 |
c.425A>T |
p.Gln142Leu |
Missense |
6/20 |
- |
7-15725995-G-C |
MEOX2 |
c.33C>G |
p.Ser11Arg |
Missense |
1/3 |
- |
1-204518457-A-C |
MDM4 |
c.1120A>C |
p.Lys374Gln |
Missense |
11/11 |
- |
13-32914809-T-C |
BRCA2 |
c.6317T>C |
p.Leu2106Pro |
Missense |
11/27 |
- |
5-131930591-A-T |
RAD50 |
c.1824A>T |
p.Lys608Asn |
Missense |
12/25 |
- |
19-38885397-C-A |
SPRED3 |
c.538C>A |
p.Pro180Thr |
Missense |
4/5 |
- |
19-38885397-C-G |
SPRED3 |
c.538C>G |
p.Pro180Ala |
Missense |
4/5 |
- |
1-111854895-G-A |
CHIA |
c.-61+555G>A |
- |
intron_variant |
- |
3/9 |
11-102495959-G-C |
MMP20 |
c.92C>G |
p.Pro31Arg |
Missense |
1/10 |
- |
19-51630437-C-A |
SIGLEC9 |
c.899C>A |
p.Ser300* |
Nonsense |
4/7 |
- |
2-45995181-G-A |
PRKCE |
c.349-74958G>A |
- |
IntronicSNV |
- |
1/14 |
19-41932112-G-A |
B3GNT8 |
c.572C>T |
p.Ala191Val |
Missense |
3/3 |
- |
20-62595032-C-T |
ZNF512B |
c.1637G>A |
p.Arg546Gln |
Missense |
10/17 |
- |
2-20845183-C-T |
HS1BP3 |
c.115G>A |
p.Val39Met |
Missense |
2/7 |
- |
2-20845183-C-G |
HS1BP3 |
c.115G>C |
p.Val39Leu |
Missense |
2/7 |
- |
10-123730454-T-G |
NSMCE4A |
c.501A>C |
p.Leu167Leu |
Synonymous |
3/11 |
- |
7-99032559-G-A |
PTCD1 |
c.307C>T |
p.Arg103Cys |
Missense |
2/8 |
- |
12-113325629-T-C |
RPH3A |
c.1452T>C |
p.Phe484Phe |
Synonymous |
16/21 |
- |
1-182554743-C-T |
RNASEL |
c.1199G>A |
p.Arg400His |
Missense |
2/7 |
- |
6-44274257-G-C |
AARS2 |
c.1162C>G |
p.Pro388Ala |
Missense |
8/22 |
- |
14-94417531-T-C |
ASB2 |
c.694A>G |
p.Asn232Asp |
Missense |
6/10 |
- |
1-70889999-C-T |
CTH |
c.488C>T |
p.Thr163Ile |
Missense |
5/12 |
- |
10-105891932-T-C |
CFAP43 |
c.4619A>G |
p.Glu1540Gly |
Missense |
36/38 |
- |
11-108119823-T-C |
ATM |
c.1229T>C |
p.Val410Ala |
Missense |
9/63 |
- |
3-140785128-G-A |
SPSB4 |
c.182G>A |
p.Arg61His |
Missense |
2/3 |
- |
3-140785128-G-C |
SPSB4 |
c.182G>C |
p.Arg61Pro |
Missense |
2/3 |
- |
2-172966952-C-G |
DLX2 |
c.315G>C |
p.Lys105Asn |
Missense |
1/3 |
- |
17-12915009-G-A |
ELAC2 |
c.560-1021C>T |
- |
IntronicSNV |
- |
6/22 |
21-46032087-G-T |
TSPEAR |
c.83-44198C>A |
- |
IntronicSNV |
- |
1/11 |
5-131915050-T-C |
RAD50 |
c.407T>C |
p.Ile136Thr |
Missense |
4/25 |
- |
2-48809144-T-G |
STON1-GTF2A1L |
c.1372T>G |
p.Leu458Val |
Missense |
2/11 |
- |
9-124080744-C-A |
GSN |
c.1100C>A |
p.Thr367Asn |
Missense |
8/17 |
- |
19-11546603-G-A |
PRKCSH |
c.1-336G>A |
- |
IntronicSNV |
1/18 |
- |
5-886744-C-T |
BRD9 |
c.796G>A |
p.Ala266Thr |
Missense |
7/16 |
- |
17-41244465-C-A |
BRCA1 |
c.3083G>T |
p.Arg1028Leu |
Missense |
10/23 |
- |
19-51582157-T-C |
KLK14 |
c.518A>G |
- |
missense_variant |
6/7 |
- |
22-40436973-G-C |
FAM83F |
c.*11404G>C |
- |
IntergenicSNV |
5/5 |
- |
17-41244524-C-T |
BRCA1 |
c.3024G>A |
p.Met1008Ile |
Missense |
10/23 |
- |
19-51518112-A-G |
KLK10 |
c.775T>C |
p.Tyr259His |
Missense |
6/6 |
- |
17-66270082-A-G |
SLC16A6 |
c.362T>C |
p.Ile121Thr |
Missense |
3/6 |
- |
20-18122912-C-G |
PET117 |
c.157C>G |
p.Arg53Gly |
Missense |
2/2 |
- |
20-18122912-C-T |
PET117 |
c.157C>T |
p.Arg53Cys |
Missense |
2/2 |
- |
17-7402600-T-C |
POLR2A |
c.1461T>C |
p.Ser487Ser |
Synonymous |
10/29 |
- |
2-242204015-T-C |
HDLBP |
c.82A>G |
p.Thr28Ala |
Missense |
4/28 |
- |
1-161681869-A-G |
FCRLA |
c.645A>G |
- |
missense_variant |
4/5 |
- |
8-25892142-C-T |
EBF2 |
c.483-1473G>A |
- |
IntronicSNV |
- |
5/15 |
11-108117787-C-T |
ATM |
c.998C>T |
p.Ser333Phe |
Missense |
8/63 |
- |
1-213186688-C-G |
ANGEL2 |
c.132G>C |
p.Arg44Ser |
Missense |
2/9 |
- |
4-22449088-C-A |
ADGRA3 |
c.520G>T |
p.Asp174Tyr |
Missense |
5/19 |
- |
3-112992140-G-A |
BOC |
c.1186G>A |
p.Glu396Lys |
Missense |
8/20 |
- |
3-112992140-G-C |
BOC |
c.1186G>C |
p.Glu396Gln |
Missense |
8/20 |
- |
11-102272400-C-T |
TMEM123 |
c.472G>A |
p.Ala158Thr |
Missense |
4/5 |
- |
11-68773555-T-C |
MRGPRF |
c.223A>G |
p.Arg75Gly |
Missense |
3/3 |
- |
19-18271764-C-T |
PIK3R2 |
c.451C>T |
p.Pro151Ser |
Missense |
4/16 |
- |
8-22885246-G-A |
TNFRSF10B |
c.682C>T |
p.Arg228Cys |
Missense |
7/10 |
- |
1-155007165-A-G |
DCST1 |
c.224A>G |
p.Tyr75Cys |
Missense |
4/17 |
- |
16-1391388-G-A |
BAIAP3 |
c.629G>A |
p.Arg210His |
Missense |
8/33 |
- |
2-228131169-A-G |
COL4A3 |
c.1352A>G |
p.His451Arg |
Missense |
22/52 |
- |
19-41916558-A-G |
BCKDHA |
c.125A>G |
p.Gln42Arg |
Missense |
2/9 |
- |
11-1084362-G-A |
MUC2 |
c.2494G>A |
p.Gly832Ser |
Missense |
19/51 |
- |
17-41245381-T-C |
BRCA1 |
c.2167A>G |
p.Asn723Asp |
Missense |
10/23 |
- |
16-23614871-T-C |
PALB2 |
c.3470A>G |
p.Gln1157Arg |
Missense |
13/13 |
- |
17-53398146-C-T |
HLF |
c.794C>T |
p.Ser265Leu |
Missense |
4/4 |
- |
5-56219389-C-G |
MIER3 |
c.1216G>C |
p.Val406Leu |
Missense |
13/13 |
- |
7-7412808-C-G |
COL28A1 |
c.2729G>C |
p.Arg910Pro |
Missense |
32/35 |
- |
8-55533995-GTG-ATC |
RP1 |
c.469_471delGTGin |