PMID: 35087742

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers in oncology
Zhang, Jiexia J, Tang, Shuangfeng S, Zhang, Chunning C, Li, Mingyao M, Zheng, Yating Y, Hu, Xue X, Huang, Mengli M, Cheng, Xiangyang X
2021

3243 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-81332000-C-T HGF c.2084G>A p.R695H Missense 18/18 -
17-7579311-C-T TP53 c.375+1G>A - IntronicSNV - 4/10
7-55242470-T-C EGFR c.2240T>C p.L747S Missense 19/28 -
2-234669619-C-A UGT1A1 c.686C>A p.P229Q Missense 1/5 -
2-234669144-G-A UGT1A1 c.211G>A p.G71R Missense 1/5 -
15-66729181-A-G MAP2K1 c.389A>G p.Y130C Missense 3/11 -
4-1806119-G-C FGFR3 c.1138G>C p.G380R Missense 9/18 -
6-18139228-C-T TPMT c.460G>A p.A154T Missense 6/9 -
17-7578205-C-A TP53 c.644G>T p.S215I Missense 6/11 -
17-7579312-C-T TP53 c.375G>A p.T125= Synonymous 4/11 -
17-7579312-C-A TP53 c.375G>T p.T125= Synonymous 4/11 -
17-7579312-C-G TP53 c.375G>C p.T125= Synonymous 4/11 -
5-112174665-T-C APC c.3374T>C p.V1125A Missense 16/16 -
5-112174669-C-G APC c.3378C>G p.S1126R Missense 16/16 -
17-7578271-T-G TP53 c.578A>C p.H193P Missense 6/11 -
17-7578235-T-A TP53 c.614A>T p.Y205F Missense 6/11 -
17-7577556-C-A TP53 c.725G>T p.C242F Missense 7/11 -
6-32188943-G-A NOTCH4 c.611C>T p.P204L Missense 4/30 -
17-7578478-G-C TP53 c.452C>G p.P151R Missense 5/11 -
6-18130918-T-C TPMT c.719A>G p.Y240C Missense 9/9 -
1-97915624-A-G DPYD c.1896T>C p.F632= Synonymous 14/23 -
2-215632255-C-A BARD1 c.1519G>T p.V507L Missense 6/11 -
2-215632255-C-T BARD1 c.1519G>A p.V507M Missense 6/11 -
7-55242469-TT-CC EGFR c.2239_2240delTTinsCC p.L747P Missense 19/28 -
16-2121610-G-A TSC2 c.1939G>A p.D647N Missense 18/42 -
16-2130189-G-A TSC2 c.3421G>A p.A1141T Missense 30/42 -
17-7577099-C-G TP53 c.839G>C p.R280T Missense 8/11 -
9-135797253-G-C TSC1 c.616C>G p.H206D Missense 7/23 -
17-7577560-A-C TP53 c.721T>G p.S241A Missense 7/11 -
9-21971199-C-G CDKN2A c.159G>C p.M53I Missense 2/3 -
17-7578239-C-A TP53 c.610G>T p.E204* Nonsense 6/11 -
17-7577090-C-G TP53 c.848G>C p.R283P Missense 8/11 -
22-42526694-G-A CYP2D6 c.100C>T p.P34S Missense 1/9 -
3-41266113-C-G CTNNB1 c.110C>G p.S37C Missense 3/15 -
13-32954180-C-T BRCA2 c.9154C>T p.R3052W Missense 24/27 -
1-97981395-T-C DPYD c.1627A>G p.I543V Missense 13/23 -
7-55242465-AGGAATTAAGAGAAGC-A EGFR c.2235_2249del15 p.E746_A750del InFrameDeletion 19/28 -
7-55242466-GGAATTAAGAGAAGCA-G EGFR c.2236_2250del15 p.E746_A750del InFrameDeletion 19/28 -
19-48664717-G-A LIG1 c.155C>T p.P52L Missense 4/28 -
13-32893361-A-G BRCA2 c.215A>G p.N72S Missense 3/27 -
17-41245262-T-A BRCA1 c.2286A>T p.R762S Missense 10/23 -
17-41246512-G-A BRCA1 c.1036C>T p.P346S Missense 10/23 -
19-1220640-C-T STK11 c.658C>T p.Q220* Nonsense 5/10 -
19-1220382-C-T STK11 c.475C>T p.Q159* Nonsense 4/10 -
7-140481411-C-A BRAF c.1397G>T p.G466V Missense 11/18 -
7-55241678-A-C EGFR c.2126A>C p.E709A Missense 18/28 -
7-55242469-TTAAGAGAAG-C EGFR c.2239_2248delinsC p.L747_A750delinsP MultiAAMissense 19/28 -
7-55242469-TTAAGAGAAGCAA-C EGFR c.2239_2251delinsC p.L747_T751delinsP MultiAAMissense 19/28 -
17-7578427-T-C TP53 c.503A>G p.H168R Missense 5/11 -
3-41266101-C-A CTNNB1 c.98C>A p.S33Y Missense 3/15 -
3-41266101-C-T CTNNB1 c.98C>T p.S33F Missense 3/15 -
13-32931957-G-T BRCA2 c.7696G>T p.D2566Y Missense 16/27 -
7-55242467-AATTAAGAGAAGCAAC-A EGFR c.2240_2254del15 p.L747_T751del InFrameDeletion 19/28 -
7-55242470-TTAAGAGAAGCAACATCTC-T EGFR c.2240_2257del18 p.L747_P753delinsS MultiAAMissense 19/28 -
7-55241679-AAAC-A EGFR c.2127_2129delAAC p.E709_T710delinsD MultiAAMissense 18/28 -
4-110908981-T-G EGF c.2573T>G p.L858W Missense 17/24 -
17-7577536-T-C TP53 c.745A>G p.R249G Missense 7/11 -
21-36164601-G-A RUNX1 c.1274C>T p.P425L Missense 9/9 -
17-7578235-T-C TP53 c.614A>G p.Y205C Missense 6/11 -
17-7578211-C-A TP53 c.638G>T p.R213L Missense 6/11 -
3-178917478-G-A PIK3CA c.353G>A p.G118D Missense 3/21 -
9-21974751-C-A CDKN2A c.76G>T p.E26* Nonsense 1/3 -
2-29446307-G-A ALK c.3260C>T p.T1087I Missense 20/29 -
17-7578479-G-A TP53 c.451C>T p.P151S Missense 5/11 -
17-7577545-T-C TP53 c.736A>G p.M246V Missense 7/11 -
17-7577118-C-A TP53 c.820G>T p.V274F Missense 8/11 -
7-6045597-T-G PMS2 c.89A>C p.Q30P Missense 2/15 -
7-6042169-C-T PMS2 c.452G>A p.R151H Missense 5/15 -
17-7579414-C-T TP53 c.273G>A p.W91* Nonsense 4/11 -
17-7577547-C-A TP53 c.734G>T p.G245V Missense 7/11 -
17-7578478-G-T TP53 c.452C>A p.P151H Missense 5/11 -
17-7577100-T-C TP53 c.838A>G p.R280G Missense 8/11 -
17-7577106-G-A TP53 c.832C>T p.P278S Missense 8/11 -
17-59876546-G-A BRIP1 c.1255C>T p.R419W Missense 9/20 -
3-178952072-A-G PIK3CA c.3127A>G p.M1043V Missense 21/21 -
7-140481417-C-A BRAF c.1391G>T p.G464V Missense 11/18 -
3-178952074-G-C PIK3CA c.3129G>C p.M1043I Missense 21/21 -
17-7578211-C-T TP53 c.638G>A p.R213Q Missense 6/11 -
17-7577108-C-A TP53 c.830G>T p.C277F Missense 8/11 -
7-55241617-G-T EGFR c.2065G>T p.V689L Missense 18/28 -
17-7577548-C-A TP53 c.733G>T p.G245C Missense 7/11 -
11-108098555-A-G ATM c.125A>G p.H42R Missense 3/63 -
16-23641340-G-A PALB2 c.2135C>T p.A712V Missense 5/13 -
13-48955431-G-A RB1 c.1547G>A p.W516* Nonsense 17/27 -
17-7577538-C-G TP53 c.743G>C p.R248P Missense 7/11 -
X-76907781-TTCC-T ATRX c.4377_4379delGGA p.E1464del InFrameDeletion 15/35 -
17-7577114-C-A TP53 c.824G>T p.C275F Missense 8/11 -
17-7578469-C-A TP53 c.461G>T p.G154V Missense 5/11 -
17-7577127-C-A TP53 c.811G>T p.E271* Nonsense 8/11 -
17-7574026-C-A TP53 c.1001G>T p.G334V Missense 10/11 -
17-7578280-G-A TP53 c.569C>T p.P190L Missense 6/11 -
17-7574012-C-A TP53 c.1015G>T p.E339* Nonsense 10/11 -
5-112175951-G-GA APC c.4666_4666dupA p.T1556Nfs*3 Frameshift 16/16 -
3-53531239-C-T CACNA1D c.128C>T p.P43L Missense 2/48 -
10-123258034-A-C FGFR2 c.1647T>G p.N549K Missense 12/18 -
10-123258034-A-T FGFR2 c.1647T>A p.N549K Missense 12/18 -
10-123260370-C-T FGFR2 c.1531G>A p.A511T Missense 11/18 -
10-123274833-G-A FGFR2 c.1085C>T p.A362V Missense 9/18 -
12-49425022-C-T KMT2D c.13466G>A p.G4489E Missense 40/55 -
7-81359056-G-T HGF c.905C>A p.T302K Missense 8/18 -
4-1801001-G-A FGFR3 c.130G>A p.G44S Missense 3/18 -
4-1795748-G-C FGFR3 c.87G>C p.Q29H Missense 2/18 -
12-49446160-C-T KMT2D c.1306G>A p.E436K Missense 11/55 -
7-81381528-C-T HGF c.533G>A p.R178Q Missense 5/18 -
10-8100631-G-A GATA3 c.605G>A p.R202H Missense 3/6 -
12-49426345-G-A KMT2D c.12143C>T p.P4048L Missense 40/55 -
8-38274887-T-C FGFR1 c.1600A>G p.M534V Missense 12/18 -
4-1806192-A-G FGFR3 c.1211A>G p.K404R Missense 9/18 -
4-1807385-G-C FGFR3 c.1634G>C p.C545S Missense 12/18 -
4-1807167-G-A FGFR3 c.1498G>A p.A500T Missense 11/18 -
4-1807488-G-C FGFR3 c.1657G>C p.V553L Missense 13/18 -
4-1807545-C-T FGFR3 c.1714C>T p.P572S Missense 13/18 -
7-116436149-C-T MET c.4144C>T p.R1382* Nonsense 21/21 -
12-49441822-G-A KMT2D c.4162C>T p.R1388W Missense 15/55 -
12-49418454-C-T KMT2D c.15959G>A p.R5320H Missense 51/55 -
7-116339633-G-C MET c.495G>C p.Q165H Missense 2/21 -
12-49443502-C-T KMT2D c.3869G>A p.R1290Q Missense 12/55 -
7-116339635-T-C MET c.497T>C p.I166T Missense 2/21 -
7-116340251-C-A MET c.1113C>A p.N371K Missense 2/21 -
12-49431759-C-T KMT2D c.9380G>A p.R3127H Missense 35/55 -
7-116339755-T-C MET c.617T>C p.F206S Missense 2/21 -
22-30032795-G-A NF2 c.170G>A p.R57Q Missense 2/16 -
7-116340330-T-C MET c.1192T>C p.F398L Missense 2/21 -
6-18139802-A-T TPMT c.419+94T>A - IntronicSNV - 5/8
18-48591919-G-A SMAD4 c.1082G>A p.R361H Missense 9/12 -
17-7578404-A-T TP53 c.526T>A p.C176S Missense 5/11 -
17-7577536-T-A TP53 c.745A>T p.R249W Missense 7/11 -
17-7577574-T-C TP53 c.707A>G p.Y236C Missense 7/11 -
17-7578266-T-A TP53 c.583A>T p.I195F Missense 6/11 -
17-7578271-T-A TP53 c.578A>T p.H193L Missense 6/11 -
17-7577551-C-A TP53 c.730G>T p.G244C Missense 7/11 -
17-37880261-G-T ERBB2 c.2305G>T p.D769Y Missense 19/27 -
17-7578407-G-C TP53 c.523C>G p.R175G Missense 5/11 -
17-7577569-A-T TP53 c.712T>A p.C238S Missense 7/11 -
17-7579415-C-T TP53 c.272G>A p.W91* Nonsense 4/11 -
9-98212185-C-T PTCH1 c.3487G>A p.G1163S Missense 21/24 -
17-7578388-C-G TP53 c.542G>C p.R181P Missense 5/11 -
18-48591918-C-T SMAD4 c.1081C>T p.R361C Missense 9/12 -
17-7578529-A-C TP53 c.401T>G p.F134C Missense 5/11 -
17-7578443-A-T TP53 c.487T>A p.Y163N Missense 5/11 -
3-178936083-A-G PIK3CA c.1625A>G p.E542G Missense 10/21 -
17-62006798-T-G CD79B c.587A>C p.Y196S Missense 5/6 -
3-178936091-G-C PIK3CA c.1633G>C p.E545Q Missense 10/21 -
17-7577093-C-G TP53 c.845G>C p.R282P Missense 8/11 -
17-7577129-A-C TP53 c.809T>G p.F270C Missense 8/11 -
10-43607597-C-T RET c.1573C>T p.R525W Missense 8/20 -
10-96609771-G-A CYP2C19 c.1247G>A p.G416D Missense 8/9 -
9-21971186-G-A CDKN2A c.172C>T p.R58* Nonsense 2/3 -
5-67592076-G-A PIK3R1 c.1892G>A p.R631Q Missense 15/16 -
7-55242467-AATTAAGAGAAGCAACATC-T EGFR c.2237_2255delinsT p.E746_S752delinsV MultiAAMissense 19/28 -
1-97915746-G-A DPYD c.1774C>T p.R592W Missense 14/23 -
16-23641218-G-A PALB2 c.2257C>T p.R753* Nonsense 5/13 -
17-7578392-C-T TP53 c.538G>A p.E180K Missense 5/11 -
17-7577096-T-A TP53 c.842A>T p.D281V Missense 8/11 -
10-96612495-C-T CYP2C19 c.1297C>T p.R433W Missense 9/9 -
10-96535210-G-A CYP2C19 c.395G>A p.R132Q Missense 3/9 -
17-7577058-C-A TP53 c.880G>T p.E294* Nonsense 8/11 -
2-198267483-C-T SF3B1 c.1874G>A p.R625H Missense 14/25 -
11-119149245-T-C CBL c.1253T>C p.F418S Missense 9/16 -
15-66782095-A-C MAP2K1 c.1062A>C p.Q354H Missense 10/11 -
7-142460750-G-C PRSS1 c.623G>C p.G208A Missense 5/5 -
17-7578177-C-T TP53 c.672G>A p.E224= Synonymous 6/11 -
5-35871238-C-T IL7R c.460C>T p.H154Y Missense 4/8 -
21-44524486-A-G U2AF1 c.71T>C p.I24T Missense 2/8 -
3-47098379-C-T SETD2 c.6895G>A p.G2299R Missense 15/21 -
19-11097111-A-T SMARCA4 c.602A>T p.Q201L Missense 4/35 -
7-151932949-C-A KMT2C c.2722G>T p.G908C Missense 16/59 -
17-40474420-C-A STAT3 c.1981G>T p.D661Y Missense 21/24 -
2-178098953-C-A NFE2L2 c.92G>T p.G31V Missense 2/5 -
2-178098954-C-T NFE2L2 c.91G>A p.G31R Missense 2/5 -
2-178098954-C-G NFE2L2 c.91G>C p.G31R Missense 2/5 -
16-23649272-C-T PALB2 c.110G>A p.R37H Missense 3/13 -
17-7578542-G-C TP53 c.388C>G p.L130V Missense 5/11 -
16-2134572-C-G TSC2 c.4349C>G p.P1450R Missense 34/42 -
2-25467448-C-G DNMT3A c.1628G>C p.G543A Missense 14/23 -
11-108205805-C-G ATM c.8120C>G p.S2707C Missense 55/63 -
17-41244100-G-A BRCA1 c.3448C>T p.P1150S Missense 10/23 -
3-52621445-T-A PBRM1 c.2972A>T p.E991V Missense 20/30 -
7-151882672-C-A KMT2C c.5053G>T p.A1685S Missense 34/59 -
17-7578553-T-C TP53 c.377A>G p.Y126C Missense 5/11 -
16-23641307-CAT-C PALB2 c.2167_2168delAT p.M723Vfs*21 Frameshift 5/13 -
11-534285-C-A HRAS c.38G>T p.G13V Missense 2/6 -
5-131931451-TA-T RAD50 c.2165delA p.K722Rfs*14 Frameshift 13/25 -
17-7577018-C-T TP53 c.919+1G>A - IntronicSNV - 8/10
17-7577018-C-A TP53 c.919+1G>T - IntronicSNV - 8/10
1-27105700-C-T ARID1A c.5311C>T p.P1771S Missense 20/20 -
17-7576852-C-A TP53 c.993+1G>T - IntronicSNV - 9/10
1-27100171-C-T ARID1A c.3967C>T p.R1323C Missense 16/20 -
1-27097694-C-T ARID1A c.3283C>T p.Q1095* Nonsense 12/20 -
17-7577568-C-A TP53 c.713G>T p.C238F Missense 7/11 -
17-29685568-A-G NF1 c.8041A>G p.I2681V Missense 55/58 -
17-29562705-C-G NF1 c.3785C>G p.S1262C Missense 28/58 -
9-98209597-G-A PTCH1 c.3941C>T p.P1314L Missense 23/24 -
20-62178623-C-T SRMS c.194G>A p.R65Q Missense 1/8 -
17-7573948-C-G TP53 c.1079G>C p.G360A Missense 10/11 -
3-178928079-G-C PIK3CA c.1357G>C p.E453Q Missense 8/21 -
17-7576897-G-A TP53 c.949C>T p.Q317* Nonsense 9/11 -
11-108235879-C-T ATM c.8921C>T p.P2974L Missense 62/63 -
11-108213973-G-A ATM c.8293G>A p.G2765S Missense 57/63 -
3-178916836-C-G PIK3CA c.223C>G p.Q75E Missense 2/21 -
17-7577082-C-A TP53 c.856G>T p.E286* Nonsense 8/11 -
2-29443696-A-C ALK c.3521T>G p.F1174C Missense 23/29 -
17-37863347-C-G ERBB2 c.178C>G p.L60V Missense 2/27 -
2-48027824-G-A MSH6 c.2702G>A p.R901H Missense 4/10 -
7-151970859-C-T KMT2C c.943G>A p.G315S Missense 7/59 -
17-7578179-C-A TP53 c.670G>T p.E224* Nonsense 6/11 -
7-55211079-A-G EGFR c.322A>G p.R108G Missense 3/28 -
9-21971111-G-A CDKN2A c.247C>T p.H83Y Missense 2/3 -
16-67645924-C-A CTCF c.852C>A p.H284Q Missense 4/12 -
9-21971017-G-A CDKN2A c.341C>T p.P114L Missense 2/3 -
1-27057727-C-T ARID1A c.1435C>T p.Q479* Nonsense 3/20 -
X-70595092-C-T TAF1 c.488C>T p.P143L Missense 4/38 -
17-7576855-G-A TP53 c.991C>T p.Q331* Nonsense 9/11 -
1-11189845-G-T MTOR c.5664C>A p.F1888L Missense 40/58 -
13-73346338-C-T DIS3 c.1462G>A p.D488N Missense 10/21 -
17-7578479-G-C TP53 c.451C>G p.P151A Missense 5/11 -
17-7577112-C-G TP53 c.826G>C p.A276P Missense 8/11 -
17-7577559-G-C TP53 c.722C>G p.S241C Missense 7/11 -
10-96535204-C-T CYP2C19 c.389C>T p.T130M Missense 3/9 -
3-178916930-G-T PIK3CA c.317G>T p.G106V Missense 2/21 -
17-7578467-T-G TP53 c.463A>C p.T155P Missense 5/11 -
2-178098944-C-T NFE2L2 c.101G>A p.R34Q Missense 2/5 -
X-123197716-C-T STAG2 c.1840C>T p.R614* Nonsense 20/35 -
17-7578395-G-T TP53 c.535C>A p.H179N Missense 5/11 -
17-7578191-A-C TP53 c.658T>G p.Y220D Missense 6/11 -
17-7577138-C-G TP53 c.800G>C p.R267P Missense 8/11 -
17-7577581-A-T TP53 c.700T>A p.Y234N Missense 7/11 -
17-7579494-T-A TP53 c.193A>T p.R65* Nonsense 4/11 -
13-25021245-A-G PARP4 c.3194T>C p.V1065A Missense 26/34 -
19-10475348-C-T TYK2 c.1309G>A p.E437K Missense 9/25 -
5-35876536-C-A IL7R c.1328C>A p.S443* Nonsense 8/8 -
17-7578263-G-C TP53 c.586C>G p.R196G Missense 6/11 -
15-89876861-C-T POLG c.125G>A p.R42Q Missense 2/23 -
8-139268993-C-A FAM135B c.307G>T p.A103S Missense 5/20 -
2-29416705-C-A ALK c.4248G>T p.K1416N Missense 29/29 -
9-98218641-C-T PTCH1 c.3223G>A p.G1075R Missense 19/24 -
2-29416380-T-C ALK c.4573A>G p.K1525E Missense 29/29 -
4-187525601-G-A FAT1 c.10478C>T p.P3493L Missense 18/27 -
16-89851273-G-A FANCA c.1459C>T p.R487W Missense 15/43 -
5-56177848-TCAA-T MAP3K1 c.2845_2847delACA p.T949del InFrameDeletion 14/20 -
7-42005963-G-A GLI3 c.2708C>T p.S903L Missense 15/15 -
7-55238900-C-T EGFR c.1913C>T p.T638M Missense 16/28 -
9-21971108-C-G CDKN2A c.250G>C p.D84H Missense 2/3 -
15-50784955-C-A USP8 c.2292C>A p.N764K Missense 15/20 -
7-55259442-G-T EGFR c.2500G>T p.V834L Missense 21/28 -
9-21970913-C-A CDKN2A c.445G>T p.E149* Nonsense 2/3 -
5-44310536-T-C FGF10 c.422A>G p.Y141C Missense 2/3 -
17-29654655-A-G NF1 c.5407A>G p.I1803V Missense 38/58 -
17-29657493-G-A NF1 c.5789G>A p.C1930Y Missense 39/58 -
5-80109532-A-G MSH3 c.2785A>G p.I929V Missense 20/24 -
4-187549515-G-A FAT1 c.4603C>T p.R1535* Nonsense 9/27 -
17-29585518-A-G NF1 c.4330A>G p.K1444E Missense 32/58 -
17-29667553-G-T NF1 c.6952G>T p.V2318L Missense 47/58 -
17-7576888-T-A TP53 c.958A>T p.K320* Nonsense 9/11 -
18-48604655-G-A SMAD4 c.1477G>A p.D493N Missense 12/12 -
12-115112026-C-T TBX3 c.1654G>A p.G552R Missense 6/7 -
17-29552252-A-G NF1 c.1985A>G p.K662R Missense 17/58 -
3-178941879-A-G PIK3CA c.2198A>G p.K733R Missense 15/21 -
17-41201197-T-G BRCA1 c.5347A>C p.M1783L Missense 21/23 -
17-41199678-C-A BRCA1 c.5449G>T p.E1817* Nonsense 22/23 -
19-10602836-C-T KEAP1 c.742G>A p.A248T Missense 3/6 -
16-23649269-G-A PALB2 c.113C>T p.A38V Missense 3/13 -
7-140453124-C-A BRAF c.1811G>T p.W604L Missense 15/18 -
16-23646208-G-T PALB2 c.1659C>A p.H553Q Missense 4/13 -
12-49427912-C-T KMT2D c.10678G>A p.D3560N Missense 39/55 -
1-158585163-G-T SPTA1 c.6631C>A p.R2211S Missense 48/52 -
17-37880997-G-GTGT ERBB2 c.2326_2327insTGT p.G776delinsVC MultiAAMissense 20/27 -
16-89877149-C-T FANCA c.488G>A p.R163H Missense 5/43 -
18-51795960-A-G POLI c.44A>G p.D15G Missense 1/10 -
8-90971041-C-T NBN c.1036G>A p.V346M Missense 9/16 -
13-32907183-A-G BRCA2 c.1568A>G p.H523R Missense 10/27 -
8-90995017-A-G NBN c.104T>C p.I35T Missense 2/16 -
11-108099994-A-C ATM c.275A>C p.K92T Missense 4/63 -
11-108138009-G-A ATM c.2578G>A p.D860N Missense 17/63 -
11-108192078-C-T ATM c.6503C>T p.S2168L Missense 45/63 -
5-131977907-C-T RAD50 c.3790C>T p.L1264F Missense 25/25 -
13-32913027-G-A BRCA2 c.4535G>A p.R1512H Missense 11/27 -
13-32912568-C-T BRCA2 c.4076C>T p.T1359I Missense 11/27 -
13-32912868-A-G BRCA2 c.4376A>G p.N1459S Missense 11/27 -
13-32913091-A-C BRCA2 c.4599A>C p.K1533N Missense 11/27 -
16-23646375-C-A PALB2 c.1492G>T p.D498Y Missense 4/13 -
13-32972800-C-T BRCA2 c.10150C>T p.R3384* Nonsense 27/27 -
16-23614962-A-G PALB2 c.3379T>C p.C1127R Missense 13/13 -
16-23632708-T-C PALB2 c.3088A>G p.T1030A Missense 10/13 -
16-23640966-C-T PALB2 c.2509G>A p.E837K Missense 5/13 -
16-23641186-C-G PALB2 c.2289G>C p.L763F Missense 5/13 -
16-23641247-T-C PALB2 c.2228A>G p.Y743C Missense 5/13 -
16-23641346-G-A PALB2 c.2129C>T p.T710M Missense 5/13 -
16-23641520-C-T PALB2 c.1955G>A p.S652N Missense 5/13 -
16-23646594-C-T PALB2 c.1273G>A p.V425M Missense 4/13 -
16-23646654-G-C PALB2 c.1213C>G p.P405A Missense 4/13 -
16-23647638-A-G PALB2 c.229T>C p.C77R Missense 4/13 -
7-55242481-ACATCTCCGAAAGCCAACAAGGAAATC-TCT EGFR c.2251_2277delinsTCT p.T751_I759delinsS MultiAAMissense 19/28 -
17-41245201-T-C BRCA1 c.2347A>G p.I783V Missense 10/23 -
5-79950715-G-C MSH3 c.169G>C p.A57P Missense 1/24 -
19-10610382-T-C KEAP1 c.328A>G p.M110V Missense 2/6 -
16-23647149-G-T PALB2 c.718C>A p.P240T Missense 4/13 -
9-139395158-G-A NOTCH1 c.5780C>T p.T1927M Missense 31/34 -
17-41246724-C-T BRCA1 c.824G>A p.G275D Missense 10/23 -
17-41246737-C-T BRCA1 c.811G>A p.V271M Missense 10/23 -
22-29090043-C-T CHEK2 c.1438G>A p.A480T Missense 13/15 -
22-29091846-G-A CHEK2 c.1111C>T p.H371Y Missense 11/15 -
22-29107934-C-T CHEK2 c.755G>A p.S252N Missense 6/15 -
6-106553729-C-A PRDM1 c.1694C>A p.P565Q Missense 5/7 -
16-23619203-G-A PALB2 c.3332C>T p.P1111L Missense 12/13 -
16-23641146-C-T PALB2 c.2329G>A p.D777N Missense 5/13 -
17-29559777-C-T NF1 c.3374C>T p.A1125V Missense 26/58 -
16-23646813-C-G PALB2 c.1054G>C p.E352Q Missense 4/13 -
21-36252876-C-G RUNX1 c.486G>C p.R162S Missense 5/9 -
15-91328217-G-A BLM c.2729G>A p.R910K Missense 14/22 -
1-11272529-G-A MTOR c.3401C>T p.A1134V Missense 23/58 -
22-29095882-G-A CHEK2 c.952C>T p.R318C Missense 9/15 -
11-108224493-G-T ATM c.8672G>T p.G2891V Missense 60/63 -
13-32906411-T-C BRCA2 c.796T>C p.F266L Missense 10/27 -
16-89858883-C-T FANCA c.1079G>A p.R360H Missense 12/43 -
3-181430151-G-A SOX2 c.3G>A p.M1? Missense 1/1 -
3-37053562-C-T MLH1 c.649C>T p.R217C Missense 8/19 -
2-47637371-A-G MSH2 c.505A>G p.I169V Missense 3/16 -
2-47693946-A-G MSH2 c.1660A>G p.S554G Missense 10/16 -
7-6026708-C-T PMS2 c.1688G>A p.R563Q Missense 11/15 -
10-89692836-A-T PTEN c.320A>T p.D107V Missense 5/9 -
16-14026103-G-A ERCC4 c.1063G>A p.E355K Missense 6/11 -
16-72992630-G-T ZFHX3 c.1415C>A p.A472E Missense 2/10 -
17-29556953-G-A NF1 c.2951G>A p.G984E Missense 22/58 -
2-141458125-G-A LRP1B c.6493C>T p.R2165W Missense 41/91 -
2-212251659-C-G ERBB4 c.3400G>C p.V1134L Missense 27/28 -
13-32972378-C-T BRCA2 c.9728C>T p.P3243L Missense 27/27 -
2-47705625-G-A MSH2 c.2425G>A p.E809K Missense 14/16 -
9-21974714-GGCAGCGCCCCCGCCTCCA-G CDKN2A c.95_112del18 p.L32_L37del InFrameDeletion 1/3 -
9-80537095-G-T GNAQ c.303C>A p.Y101* Nonsense 2/7 -
18-48591975-A-T SMAD4 c.1138A>T p.R380W Missense 9/12 -
2-212495294-T-A ERBB4 c.1972A>T p.I658F Missense 17/28 -
1-11298542-T-C MTOR c.1919A>G p.H640R Missense 12/58 -
12-57864754-G-A GLI1 c.2231G>A p.G744E Missense 12/12 -
9-98242839-C-A PTCH1 c.778G>T p.D260Y Missense 6/24 -
5-112176926-G-T APC c.5635G>T p.A1879S Missense 16/16 -
7-116415163-G-A MET c.3257G>A p.R1086K Missense 15/21 -
17-46804397-C-G HOXB13 c.610G>C p.G204R Missense 2/2 -
16-10031816-G-A GRIN2A c.1007C>T p.P336L Missense 3/13 -
13-48937093-G-T RB1 c.861G>T p.E287D Missense 8/27 -
5-112173830-G-T APC c.2539G>T p.E847* Nonsense 16/16 -
17-38512270-G-T RARA c.1181G>T p.R394L Missense 9/9 -
17-7579715-AG-A TP53 c.80delC p.P27Lfs*17 Frameshift 3/11 -
19-10610405-G-A KEAP1 c.305C>T p.S102L Missense 2/6 -
17-29553477-A-AC NF1 c.2033dupC p.I679Dfs*21 Frameshift 18/58 -
10-89720798-GTACT-G PTEN c.955_958delACTT p.T319* Frameshift 8/9 -
17-7577500-TG-T TP53 c.780delC p.S261Vfs*84 Frameshift 7/11 -
17-7579854-GA-G TP53 c.58delT p.S20Qfs*24 Frameshift 2/11 -
17-7579470-CG-C TP53 c.216delC p.V73Wfs*50 Frameshift 4/11 -
19-50917023-G-A POLD1 c.2275G>A p.V759I Missense 19/27 -
17-7578504-AG-A TP53 c.425delC p.P142Lfs*28 Frameshift 5/11 -
17-7577035-TG-T TP53 c.902delC p.P301Qfs*44 Frameshift 8/11 -
3-30691871-G-GA TGFBR2 c.383_383dupA p.P129Afs*3 Frameshift 3/7 -
17-7577594-ACAGT-A TP53 c.683_686delACTG p.D228Vfs*18 Frameshift 7/11 -
7-116412044-G-T MET c.3028+1G>T - IntronicSNV - 14/20
7-152055688-TTC-T KMT2C c.232_233delGA p.E78Nfs*17 Frameshift 2/59 -
22-24176351-CG-C SMARCB1 c.1144delG p.A382Pfs*101 Frameshift 9/9 -
17-29486112-G-T NF1 c.288+1G>T - IntronicSNV - 3/57
5-112154963-C-T APC c.1234C>T p.Q412* Nonsense 10/16 -
15-99465657-G-T IGF1R c.2482G>T p.A828S Missense 11/21 -
9-21971185-C-T CDKN2A c.173G>A p.R58Q Missense 2/3 -
17-41243952-G-A BRCA1 c.3596C>T p.A1199V Missense 10/23 -
9-21974783-C-T CDKN2A c.44G>A p.W15* Nonsense 1/3 -
16-23646627-G-A PALB2 c.1240C>T p.R414* Nonsense 4/13 -
10-89711892-T-G PTEN c.510T>G p.S170R Missense 6/9 -
7-140624440-C-T BRAF c.64G>A p.D22N Missense 1/18 -
X-53241007-C-A KDM5C c.1204G>T p.D402Y Missense 9/26 -
7-142459834-C-T PRSS1 c.410C>T p.T137M Missense 3/5 -
9-21971108-C-A CDKN2A c.250G>T p.D84Y Missense 2/3 -
16-23646750-C-T PALB2 c.1117G>A p.E373K Missense 4/13 -
X-76944369-T-C ATRX c.536A>G p.N179S Missense 7/35 -
16-2104300-G-A TSC2 c.340G>A p.E114K Missense 5/42 -
6-43748521-C-T VEGFA c.1015C>T p.R339W Missense 6/8 -
2-209113210-T-C IDH1 c.297A>G p.I99M Missense 4/10 -
22-29091741-G-A CHEK2 c.1216C>T p.R406C Missense 11/15 -
16-3786796-C-G CREBBP c.4415G>C p.W1472S Missense 27/31 -
16-3789597-C-T CREBBP c.4262G>A p.C1421Y Missense 25/31 -
2-178098973-C-G NFE2L2 c.72G>C p.W24C Missense 2/5 -
3-12641304-G-C RAF1 c.994C>G p.P332A Missense 10/17 -
10-89690831-A-T PTEN c.238A>T p.K80* Nonsense 4/9 -
17-7578446-T-A TP53 c.484A>T p.I162F Missense 5/11 -
2-215593551-G-A BARD1 c.2183C>T p.S728F Missense 11/11 -
2-215610562-C-T BARD1 c.1694G>A p.R565H Missense 8/11 -
2-215645825-A-G BARD1 c.773T>C p.I258T Missense 4/11 -
13-48936983-C-T RB1 c.751C>T p.R251* Nonsense 8/27 -
13-49030386-C-A RB1 c.1861C>A p.R621S Missense 19/27 -
5-149502704-C-T PDGFRB c.2084G>A p.R695H Missense 15/23 -
17-59763272-G-C BRIP1 c.2830C>G p.Q944E Missense 19/20 -
1-11188164-G-C MTOR c.5930C>G p.T1977R Missense 43/58 -
5-156675967-C-T ITK c.1741C>T p.R581W Missense 16/17 -
3-10183734-C-G VHL c.203C>G p.S68W Missense 1/3 -
13-48919300-T-A RB1 c.465T>A p.Y155* Nonsense 4/27 -
9-135778098-T-C TSC1 c.2285A>G p.N762S Missense 18/23 -
7-42005678-G-C GLI3 c.2993C>G p.P998R Missense 15/15 -
2-47710068-C-T MSH2 c.2785C>T p.R929* Nonsense 16/16 -
9-98209585-G-A PTCH1 c.3953C>T p.P1318L Missense 23/24 -
9-135772614-G-C TSC1 c.2932C>G p.L978V Missense 22/23 -
17-7577135-T-A TP53 c.803A>T p.N268I Missense 8/11 -
15-91312426-C-T BLM c.2371C>T p.R791C Missense 11/22 -
19-1220400-G-T STK11 c.493G>T p.E165* Nonsense 4/10 -
16-89818581-G-A FANCA c.3031C>T p.R1011C Missense 31/43 -
X-39932995-G-A BCOR c.1604C>T p.A535V Missense 4/15 -
7-128850922-G-C SMO c.1769G>C p.S590T Missense 10/12 -
3-52643672-C-A PBRM1 c.2224G>T p.E742* Nonsense 17/30 -
16-23646257-G-A PALB2 c.1610C>T p.S537L Missense 4/13 -
16-23641115-G-A PALB2 c.2360C>T p.T787I Missense 5/13 -
9-21974724-C-G CDKN2A c.103G>C p.G35R Missense 1/3 -
7-116412043-G-T MET c.3028G>T p.D1010Y Missense 14/21 -
4-55131118-C-T PDGFRA c.661C>T p.L221F Missense 5/23 -
5-112174944-C-T APC c.3653C>T p.T1218M Missense 16/16 -
16-23641367-A-C PALB2 c.2108T>G p.L703* Nonsense 5/13 -
17-59870989-C-T BRIP1 c.1442G>A p.G481D Missense 10/20 -
17-59763248-T-C BRIP1 c.2854A>G p.I952V Missense 19/20 -
7-151962134-G-T KMT2C c.1173C>A p.C391* Nonsense 8/59 -
9-21971036-C-G CDKN2A c.322G>C p.D108H Missense 2/3 -
5-112179623-G-T APC c.8332G>T p.A2778S Missense 16/16 -
2-48026185-G-A MSH6 c.1063G>A p.G355S Missense 4/10 -
2-29445397-G-T ALK c.3436C>A p.Q1146K Missense 21/29 -
13-32912864-C-T BRCA2 c.4372C>T p.H1458Y Missense 11/27 -
2-215609831-C-A BARD1 c.1863G>T p.M621I Missense 9/11 -
9-135781467-G-A TSC1 c.1498C>T p.R500* Nonsense 15/23 -
12-133249752-C-T POLE c.1471G>A p.E491K Missense 14/49 -
18-48586278-A-G SMAD4 c.947A>G p.N316S Missense 8/12 -
12-133225520-G-A POLE c.4144C>T p.R1382C Missense 32/49 -
5-131911578-A-G RAD50 c.323A>G p.K108R Missense 3/25 -
2-47703697-G-A MSH2 c.2197G>A p.A733T Missense 13/16 -
13-32893238-G-A BRCA2 c.92G>A p.W31* Nonsense 3/27 -
17-7579549-G-T TP53 c.138C>A p.S46= Synonymous 4/11 -
7-151962168-C-A KMT2C c.1139G>T p.R380L Missense 8/59 -
9-139397639-A-C NOTCH1 c.5162T>G p.V1721G Missense 27/34 -
22-22221645-G-A MAPK1 c.86C>T p.S29L Missense 1/9 -
1-65304196-G-T JAK1 c.2919C>A p.N973K Missense 21/25 -
16-23649269-G-C PALB2 c.113C>G p.A38G Missense 3/13 -
2-215645300-T-C BARD1 c.1298A>G p.H433R Missense 4/11 -
9-133759489-CAAG-C ABL1 c.1826_1828delAGA p.K609del InFrameDeletion 11/11 -
17-29588851-C-G NF1 c.4700C>G p.S1567* Nonsense 35/58 -
19-1207105-G-T STK11 c.193G>T p.E65* Nonsense 1/10 -
17-66511629-T-A PRKAR1A c.89T>A p.L30Q Missense 2/11 -
10-43620336-G-A RET c.2945G>A p.R982H Missense 18/20 -
2-178098975-A-G NFE2L2 c.70T>C p.W24R Missense 2/5 -
2-178098816-C-A NFE2L2 c.229G>T p.D77Y Missense 2/5 -
2-178098962-A-G NFE2L2 c.83T>C p.I28T Missense 2/5 -
2-178098950-A-C NFE2L2 c.95T>G p.V32G Missense 2/5 -
15-88423601-C-A NTRK3 c.2234G>T p.R745L Missense 19/20 -
5-149504392-G-A PDGFRB c.1810C>T p.R604C Missense 13/23 -
4-55604628-C-T KIT c.2836C>T p.R946* Nonsense 21/21 -
15-99250824-A-G IGF1R c.128A>G p.Y43C Missense 2/21 -
17-41228533-T-A BRCA1 c.4456A>T p.S1486C Missense 13/23 -
2-47601060-G-A EPCAM c.298G>A p.D100N Missense 3/9 -
14-95570399-T-C DICER1 c.3334A>G p.N1112D Missense 21/27 -
16-9916248-G-A GRIN2A c.2041C>T p.R681* Nonsense 10/13 -
3-52442614-T-A BAP1 c.131A>T p.Y44F Missense 4/17 -
9-21974695-CG-C CDKN2A c.132delC p.Y44* Frameshift 1/3 -
9-21974776-GGCCA-G CDKN2A c.47_50delTGGC p.L16Pfs*9 Frameshift 1/3 -
17-7579419-AG-A TP53 c.267delC p.S90Pfs*33 Frameshift 4/11 -
1-27105930-TG-T ARID1A c.5548delG p.D1850Tfs*33 Frameshift 20/20 -
12-121432117-G-GC HNF1A c.872dupC p.G292Rfs*25 Frameshift 4/10 -
16-23646807-AT-A PALB2 c.1059delA p.K353Nfs*3 Frameshift 4/13 -
16-23646825-GTTCTT-G PALB2 c.1037_1041delAAGAA p.K346Tfs*13 Frameshift 4/13 -
16-23614914-G-GT PALB2 c.3426_3426dupA p.L1143Tfs*14 Frameshift 13/13 -
12-133201522-G-A POLE c.6716C>T p.A2239V Missense 48/49 -
17-17118625-CA-C FLCN c.1305delT p.F435Lfs*33 Frameshift 12/14 -
17-38510606-C-T RARA c.860C>T p.S287L Missense 7/9 -
16-89857848-C-T FANCA c.1322G>A p.G441D Missense 14/43 -
16-3808917-G-A CREBBP c.3307C>T p.R1103* Nonsense 17/31 -
16-23635403-G-GT PALB2 c.2760_2760dupA p.Q921Tfs*7 Frameshift 8/13 -
12-57606328-C-A LRP1 c.13625C>A p.P4542H Missense 89/89 -
1-27101282-G-A ARID1A c.4564G>A p.A1522T Missense 18/20 -
10-89717777-G-T PTEN c.801+1G>T - IntronicSNV - 7/8
5-1293662-G-A TERT c.1339C>T p.R447C Missense 2/16 -
1-19062330-G-A PAX7 c.1360G>A p.V454M Missense 8/9 -
10-104375107-G-A SUFU c.1105G>A p.V369I Missense 9/12 -
16-89805325-G-A FANCA c.4225C>T p.R1409W Missense 42/43 -
12-133209313-C-T POLE c.6073G>A p.V2025M Missense 44/49 -
11-128786614-G-C KCNJ5 c.1248G>C p.R416S Missense 3/3 -
1-120458081-G-T NOTCH2 c.7264C>A p.P2422T Missense 34/34 -
1-155870205-G-A RIT1 c.634C>T p.R212W Missense 6/6 -
12-4479663-G-A FGF23 c.602C>T p.P201L Missense 3/3 -
19-30314667-G-T CCNE1 c.1216G>T p.G406W Missense 12/12 -
16-2138544-C-G TSC2 c.5357C>G p.P1786R Missense 42/42 -
19-1226602-G-T STK11 c.1258G>T p.A420S Missense 9/10 -
17-41243473-G-C BRCA1 c.4075C>G p.Q1359E Missense 10/23 -
19-41765775-C-T AXL c.2651C>T p.S884F Missense 20/20 -
16-2124210-G-A TSC2 c.2365G>A p.V789I Missense 22/42 -
2-29416646-C-T ALK c.4307G>A p.R1436H Missense 29/29 -
2-29416520-A-G ALK c.4433T>C p.M1478T Missense 29/29 -
2-212251659-C-A ERBB4 c.3400G>T p.V1134L Missense 27/28 -
2-212248518-C-G ERBB4 c.3749G>C p.R1250P Missense 28/28 -
16-1555592-G-A TELO2 c.2024G>A p.R675Q Missense 16/21 -
19-44058922-G-A XRCC1 c.290C>T p.S97F Missense 4/17 -
2-225343000-C-T CUL3 c.2092G>A p.D698N Missense 15/16 -
2-212251874-T-C ERBB4 c.3185A>G p.N1062S Missense 27/28 -
4-175899071-GTGACACCCTCCCAGAGGCAACCTCAGT-G ADAM29 c.2399_2425del27 p.T800_L808del InFrameDeletion 5/5 -
6-152129480-G-A ESR1 c.433G>A p.G145S Missense 1/8 -
9-98209357-C-T PTCH1 c.4181G>A p.R1394Q Missense 23/24 -
9-98209328-T-C PTCH1 c.4210A>G p.T1404A Missense 23/24 -
9-98209366-C-T PTCH1 c.4172G>A p.R1391Q Missense 23/24 -
7-42005105-C-T GLI3 c.3566G>A p.R1189H Missense 15/15 -
7-42005498-C-A GLI3 c.3173G>T p.R1058L Missense 15/15 -
7-128851988-C-A SMO c.2060C>A p.P687Q Missense 12/12 -
17-7576916-G-GA TP53 c.929_930insT p.N311Qfs*26 Frameshift 9/11 -
7-141429371-T-G WEE2 c.1576T>G p.Y526D Missense 11/12 -
7-55259532-G-C EGFR c.2590G>C p.A864P Missense 21/28 -
8-37695353-G-A ADGRA2 c.2155G>A p.G719R Missense 14/19 -
7-116436092-G-A MET c.4087G>A p.A1363T Missense 21/21 -
20-52188287-GT-G ZNF217 c.3142delA p.T1048Lfs*59 Frameshift 5/6 -
12-124824652-G-A NCOR2 c.5587C>T p.R1863W Missense 39/49 -
17-7577524-T-G TP53 c.757A>C p.T253P Missense 7/11 -
12-121434531-C-A HNF1A c.1295C>A p.S432Y Missense 6/10 -
22-42522737-C-T CYP2D6 c.1333G>A p.G445R Missense 9/9 -
17-7579407-ACAGGGGCCAGGAGGGGGCTGGTG-A TP53 c.257_279del23 p.A86Vfs*55 Frameshift 4/11 -
4-187521337-T-C FAT1 c.11818A>G p.T3940A Missense 22/27 -
12-124824739-T-TGCCG NCOR2 c.5499_5500insCGGC p.S1834Rfs*194 Frameshift 39/49 -
17-7577152-AC-A TP53 c.785delG p.G262Vfs*83 Frameshift 8/11 -
4-88977295-C-T PKD2 c.1774C>T p.R592* Nonsense 8/15 -
9-98240437-G-C PTCH1 c.1247C>G p.T416S Missense 9/24 -
4-187524600-C-T FAT1 c.11080G>A p.V3694I Missense 19/27 -
7-42007293-C-A GLI3 c.2332G>T p.V778L Missense 14/15 -
15-67482843-C-T SMAD3 c.1247C>T p.S416F Missense 9/9 -
15-67473780-G-T SMAD3 c.860G>T p.R287L Missense 6/9 -
19-1219336-G-T STK11 c.388G>T p.E130* Nonsense 3/10 -
13-32914356-C-T BRCA2 c.5864C>T p.S1955L Missense 11/27 -
19-50905089-T-C POLD1 c.371T>C p.V124A Missense 4/27 -
17-41226368-T-C BRCA1 c.4655A>G p.Y1552C Missense 14/23 -
3-10116221-C-T FANCD2 c.2723C>T p.T908I Missense 29/44 -
1-156838380-C-T NTRK1 c.658C>T p.R220W Missense 6/17 -
7-55231464-A-T EGFR c.1670A>T p.Q557L Missense 14/28 -
9-5534876-G-T PDCD1LG2 c.187G>T p.E63* Nonsense 3/7 -
12-133254172-T-A POLE c.712A>T p.I238F Missense 7/49 -
16-2133780-C-T TSC2 c.3968C>T p.A1323V Missense 33/42 -
3-10076461-G-A FANCD2 c.356G>A p.R119H Missense 5/44 -
1-27057761-C-T ARID1A c.1469C>T p.P490L Missense 3/20 -
9-5557694-C-A PDCD1LG2 c.708C>A p.F236L Missense 5/7 -
2-47705647-A-G MSH2 c.2447A>G p.Q816R Missense 14/16 -
12-49426729-AGCT-A KMT2D c.11756_11758delAGC p.Q3919del InFrameDeletion 40/55 -
2-47635594-T-C MSH2 c.266T>C p.V89A Missense 2/16 -
12-133219820-A-G POLE c.4541T>C p.V1514A Missense 35/49 -
17-66521912-A-C PRKAR1A c.567A>C p.E189D Missense 7/11 -
15-91298125-G-A BLM c.1044G>A p.M348I Missense 5/22 -
17-7577103-C-A TP53 c.835G>T p.G279W Missense 8/11 -
9-21971123-TGA-T CDKN2A c.233_234delTC p.L78Hfs*41 Frameshift 2/3 -
5-112175945-G-T APC c.4654G>T p.E1552* Nonsense 16/16 -
20-52193658-C-T ZNF217 c.1645G>A p.A549T Missense 4/6 -
17-7578224-CT-C TP53 c.625delA p.R209Efs*38 Frameshift 6/11 -
17-7578249-AT-A TP53 c.599delA p.N200Ifs*47 Frameshift 6/11 -
9-98241386-G-A PTCH1 c.1111C>T p.Q371* Nonsense 8/24 -
3-142285065-T-C ATR c.190A>G p.T64A Missense 3/47 -
2-48030630-C-T MSH6 c.3244C>T p.P1082S Missense 5/10 -
18-19751656-G-A GATA6 c.551G>A p.S184N Missense 2/7 -
5-112176548-G-C APC c.5257G>C p.A1753P Missense 16/16 -
4-106164794-G-C TET2 c.3662G>C p.C1221S Missense 6/11 -
11-118375998-G-A KMT2A c.9391G>A p.G3131S Missense 27/36 -
16-9934956-G-A GRIN2A c.1334C>T p.S445L Missense 6/13 -
3-30713433-G-T TGFBR2 c.758G>T p.G253V Missense 4/7 -
13-73346013-C-A DIS3 c.1525G>T p.V509L Missense 11/21 -
4-187540134-C-A FAT1 c.7606G>T p.A2536S Missense 10/27 -
6-18134076-T-A TPMT c.539A>T p.Y180F Missense 7/9 -
2-141250219-C-A LRP1B c.9078G>T p.R3026S Missense 57/91 -
3-89462320-G-T EPHA3 c.1792G>T p.D598Y Missense 10/17 -
4-25667818-G-A SLC34A2 c.448G>A p.G150R Missense 5/13 -
2-47630409-C-G MSH2 c.79C>G p.P27A Missense 1/16 -
1-241676979-C-T FH c.302G>A p.R101Q Missense 3/10 -
16-23634361-C-G PALB2 c.2925G>C p.R975S Missense 9/13 -
7-42084984-A-G GLI3 c.825T>C p.D275= Synonymous 6/15 -
9-139401405-C-T NOTCH1 c.3664G>A p.V1222M Missense 23/34 -
19-15302951-G-A NOTCH3 c.499C>T p.P167S Missense 4/33 -
9-135781505-G-C TSC1 c.1460C>G p.S487C Missense 15/23 -
17-78360160-G-A RNF213 c.14650G>A p.V4884I Missense 62/68 -
9-21971092-C-A CDKN2A c.266G>T p.G89V Missense 2/3 -
2-178098816-C-G NFE2L2 c.229G>C p.D77H Missense 2/5 -
19-11141502-G-T SMARCA4 c.3479G>T p.G1160V Missense 25/35 -
1-120612013-GC-AA NOTCH2 c.7_8delGCinsTT p.A3F Missense 1/34 -
1-97700547-G-T DPYD c.2303C>A p.T768K Missense 19/23 -
2-141819820-C-A LRP1B c.1036G>T p.G346W Missense 8/91 -
3-41266495-A-G CTNNB1 c.292A>G p.M98V Missense 4/15 -
7-55273231-G-T EGFR c.3554G>T p.G1185V Missense 28/28 -
3-178938922-G-A PIK3CA c.2164G>A p.E722K Missense 14/21 -
1-158646019-G-T SPTA1 c.1024C>A p.Q342K Missense 8/52 -
19-11152043-C-T SMARCA4 c.4231C>T p.R1411W Missense 30/35 -
10-89685303-G-C PTEN c.198G>C p.K66N Missense 3/9 -
2-178095985-C-T NFE2L2 c.1346G>A p.R449H Missense 5/5 -
19-11144121-C-G SMARCA4 c.3702C>G p.F1234L Missense 26/35 -
19-11129655-G-A SMARCA4 c.2461G>A p.E821K Missense 17/35 -
9-139391526-G-A NOTCH1 c.6665C>T p.P2222L Missense 34/34 -
19-11096931-C-T SMARCA4 c.422C>T p.S141L Missense 4/35 -
1-158651439-G-A SPTA1 c.409C>T p.R137C Missense 4/52 -
19-18280037-C-T PIK3R2 c.2120C>T p.A707V Missense 16/16 -
2-25467408-C-T DNMT3A c.1667+1G>A - IntronicSNV - 14/22
3-89448631-G-C EPHA3 c.1594+1G>C - IntronicSNV - 7/16
12-46125084-C-T ARID2 c.271C>T p.Q91* Nonsense 3/21 -
10-70333863-C-T TET1 c.1768C>T p.R590* Nonsense 2/12 -
13-49039386-A-T RB1 c.2371A>T p.K791* Nonsense 23/27 -
21-36206817-C-A RUNX1 c.695G>T p.R232L Missense 7/9 -
17-7577017-A-C TP53 c.919+2T>G - IntronicSNV - 8/10
16-2133701-G-A TSC2 c.3889G>A p.A1297T Missense 33/42 -
1-156830767-G-A NTRK1 c.41G>A p.S14N Missense 1/17 -
17-47696345-C-T SPOP c.478G>A p.E160K Missense 5/10 -
10-8100756-C-A GATA3 c.730C>A p.P244T Missense 3/6 -
15-50784950-C-T USP8 c.2287C>T p.R763W Missense 15/20 -
12-133241030-C-A POLE c.2487G>T p.M829I Missense 22/49 -
3-142268488-G-C ATR c.3004C>G p.L1002V Missense 15/47 -
16-23641488-G-A PALB2 c.1987C>T p.R663C Missense 5/13 -
2-48030591-G-C MSH6 c.3205G>C p.G1069R Missense 5/10 -
5-235284-G-A SDHA c.1090G>A p.V364I Missense 9/15 -
13-32907206-A-G BRCA2 c.1591A>G p.K531E Missense 10/27 -
13-32913339-T-G BRCA2 c.4847T>G p.L1616* Nonsense 11/27 -
16-3786715-A-G CREBBP c.4496T>C p.L1499P Missense 27/31 -
16-23634390-T-C PALB2 c.2896A>G p.I966V Missense 9/13 -
11-118344275-C-T KMT2A c.2401C>T p.H801Y Missense 3/36 -
5-112102900-A-G APC c.235A>G p.S79G Missense 4/16 -
3-138417834-C-T PIK3CB c.1685G>A p.R562Q Missense 13/24 -
4-143159104-C-T INPP4B c.749G>A p.R250Q Missense 12/26 -
X-53246390-G-A KDM5C c.592C>T p.R198* Nonsense 5/26 -
16-23646296-G-C PALB2 c.1571C>G p.S524* Nonsense 4/13 -
7-151216551-G-A RHEB c.47C>T p.S16F Missense 1/8 -
4-55524218-G-A KIT c.37G>A p.V13I Missense 1/21 -
7-151932990-C-T KMT2C c.2681G>A p.R894Q Missense 16/59 -
21-36421175-C-G RUNX1 c.22G>C p.E8Q Missense 2/9 -
11-108098419-G-A ATM c.68G>A p.R23Q Missense 2/63 -
19-54656314-G-A CNOT3 c.1855G>A p.E619K Missense 15/18 -
X-70360679-GGCA-G MED12 c.6256_6258delCAG p.Q2086del InFrameDeletion 42/45 -
17-7579409-CA-C TP53 c.278delT p.L93Rfs*30 Frameshift 4/11 -
11-2154241-TG-T IGF2 c.518delC p.P173Qfs*27 Frameshift 4/4 -
9-97864071-C-T FANCC c.1595G>A p.R532K Missense 15/15 -
16-3801807-C-G CREBBP c.3699G>C p.R1233S Missense 20/31 -
2-48028222-C-T MSH6 c.3100C>T p.R1034W Missense 4/10 -
1-27059197-G-T ARID1A c.1834G>T p.A612S Missense 4/20 -
16-3779205-G-A CREBBP c.5843C>T p.P1948L Missense 31/31 -
1-78428481-G-A FUBP1 c.1318C>T p.R440W Missense 14/20 -
11-532738-G-C HRAS c.468C>G p.F156L Missense 5/6 -
1-156841515-G-A NTRK1 c.818G>A p.R273Q Missense 7/17 -
16-23637693-T-C PALB2 c.2612A>G p.D871G Missense 7/13 -
5-228417-A-G SDHA c.739A>G p.I247V Missense 6/15 -
12-49441815-G-GC KMT2D c.4168_4168dup p.A1390Gfs*42 Frameshift 15/55 -
19-11144147-G-T SMARCA4 c.3728G>T p.R1243L Missense 26/35 -
1-27059213-C-A ARID1A c.1850C>A p.S617* Nonsense 4/20 -
1-27059213-C-G ARID1A c.1850C>G p.S617* Nonsense 4/20 -
2-141072604-C-A LRP1B c.12705G>T p.L4235F Missense 83/91 -
12-49426972-TG-T KMT2D c.11515delC p.Q3839Sfs*42 Frameshift 40/55 -
17-29588782-C-T NF1 c.4631C>T p.A1544V Missense 35/58 -
2-16082638-G-A MYCN c.452G>A p.G151E Missense 2/3 -
1-11307790-C-G MTOR c.1117G>C p.V373L Missense 8/58 -
16-23646541-A-T PALB2 c.1326T>A p.N442K Missense 4/13 -
2-47600986-G-A EPCAM c.224G>A p.G75D Missense 3/9 -
15-42054402-G-A MGA c.7586G>A p.R2529K Missense 22/24 -
16-23647577-G-T PALB2 c.290C>A p.S97Y Missense 4/13 -
16-23647548-A-T PALB2 c.319T>A p.F107I Missense 4/13 -
9-139418358-C-T NOTCH1 c.214G>A p.G72R Missense 3/34 -
9-98224149-C-T PTCH1 c.2692G>A p.D898N Missense 16/24 -
2-17955667-C-T GEN1 c.1201C>T p.R401* Nonsense 11/14 -
11-108139218-G-T ATM c.2720G>T p.C907F Missense 18/63 -
15-91354582-C-T BLM c.4022C>T p.A1341V Missense 21/22 -
11-108196147-C-T ATM c.6683C>T p.T2228I Missense 46/63 -
14-95579436-G-A DICER1 c.2033C>T p.S678F Missense 12/27 -
22-29095911-T-C CHEK2 c.923A>G p.E308G Missense 9/15 -
16-23649402-C-T PALB2 c.97G>A p.A33T Missense 2/13 -
19-2202745-C-T DOT1L c.754C>T p.Q252* Nonsense 9/28 -
19-50919693-C-T POLD1 c.2861C>T p.T954M Missense 23/27 -
13-28611358-C-T FLT3 c.1273G>A p.A425T Missense 10/24 -
5-223642-G-A SDHA c.109G>A p.V37I Missense 2/15 -
5-112174667-A-G APC c.3376A>G p.S1126G Missense 16/16 -
6-43746655-A-G VEGFA c.962A>G p.K321R Missense 5/8 -
9-133759794-G-T ABL1 c.2117G>T p.G706V Missense 11/11 -
14-95582861-T-C DICER1 c.1681A>G p.I561V Missense 10/27 -
5-112175007-G-A APC c.3716G>A p.R1239K Missense 16/16 -
2-215645591-C-T BARD1 c.1007G>A p.C336Y Missense 4/11 -
8-139163927-G-A FAM135B c.2791C>T p.Q931* Nonsense 13/20 -
15-50784955-C-G USP8 c.2292C>G p.N764K Missense 15/20 -
22-21336775-G-A LZTR1 c.115G>A p.E39K Missense 1/21 -
2-16086016-C-T MYCN c.1192C>T p.R398W Missense 3/3 -
11-108122627-G-T ATM c.1671G>T p.M557I Missense 11/63 -
2-30143140-C-A ALK c.386G>T p.G129V Missense 1/29 -
4-55127370-G-C PDGFRA c.158G>C p.S53T Missense 3/23 -
18-48591865-C-A SMAD4 c.1028C>A p.S343* Nonsense 9/12 -
2-141625202-C-A LRP1B c.4536G>T p.Q1512H Missense 27/91 -
5-79950724-G-GCCGCAGCGGCCGCAGCGC MSH3 c.186_187insGCCGCAGCGCCCGCAGCG p.A62_P63insAAAPAA InFrameInsertion 1/24 -
12-12022747-G-A ETV6 c.853G>A p.V285M Missense 5/8 -
9-87635188-C-T NTRK2 c.2240C>T p.T747M Missense 18/19 -
8-139153531-G-A FAM135B c.3700C>T p.R1234W Missense 17/20 -
19-50905288-C-T POLD1 c.496C>T p.R166W Missense 5/27 -
2-141081590-T-C LRP1B c.12386A>G p.Y4129C Missense 81/91 -
20-31023070-C-A ASXL1 c.2555C>A p.S852* Nonsense 13/13 -
15-66727451-CAGAAGCAGAAGGTGG-C MAP2K1 c.167_181del15 p.Q56_G61delinsR MultiAAMissense 2/11 -
16-23641736-T-C PALB2 c.1739A>G p.Y580C Missense 5/13 -
16-23634425-T-C PALB2 c.2861A>G p.E954G Missense 9/13 -
7-6026636-C-T PMS2 c.1760G>A p.S587N Missense 11/15 -
17-59858307-T-C BRIP1 c.1688A>G p.D563G Missense 12/20 -
7-81334774-C-G HGF c.1942G>C p.G648R Missense 17/18 -
16-9858370-G-A GRIN2A c.3031C>T p.R1011W Missense 13/13 -
5-11385274-CGCG-C CTNND2 c.677_679delCGC p.P226del InFrameDeletion 7/22 -
8-139164546-G-T FAM135B c.2172C>A p.H724Q Missense 13/20 -
15-91312406-A-G BLM c.2351A>G p.Y784C Missense 11/22 -
19-10602748-G-A KEAP1 c.830C>T p.T277M Missense 3/6 -
2-48026609-G-A MSH6 c.1487G>A p.C496Y Missense 4/10 -
19-1219381-G-T STK11 c.433G>T p.E145* Nonsense 3/10 -
3-134825379-C-A EPHB1 c.895C>A p.P299T Missense 4/16 -
1-3342296-G-T PRDM16 c.3091G>T p.E1031* Nonsense 13/17 -
1-241682991-G-C FH c.32C>G p.S11W Missense 1/10 -
16-23647094-C-T PALB2 c.773G>A p.S258N Missense 4/13 -
3-10088285-T-G FANCD2 c.1156T>G p.F386V Missense 15/44 -
7-73513529-G-C LIMK1 c.569G>C p.G190A Missense 5/16 -
16-2124355-C-G TSC2 c.2510C>G p.A837G Missense 22/42 -
4-55964373-C-T KDR c.2440G>A p.D814N Missense 17/30 -
17-66526086-G-A PRKAR1A c.917G>A p.R306Q Missense 10/11 -
14-81609975-T-C TSHR c.1573T>C p.F525L Missense 10/10 -
9-35074166-G-A FANCG c.1808C>T p.S603F Missense 14/14 -
12-25398213-T-A KRAS c.106A>T p.I36L Missense 2/5 -
11-32450067-G-T WT1 c.760C>A p.P254T missense_variant 2/10 -
5-131924538-A-G RAD50 c.1211A>G p.Q404R Missense 8/25 -
17-59820429-T-C BRIP1 c.2324A>G p.N775S Missense 16/20 -
16-89836354-G-A FANCA c.2395C>T p.P799S Missense 26/43 -
16-89849320-T-C FANCA c.1573A>G p.I525V Missense 17/43 -
17-33325636-C-T LIG3 c.2003C>T p.P668L Missense 14/20 -
16-23649233-T-G PALB2 c.149A>C p.K50T Missense 3/13 -
13-34392361-C-G RFC3 c.46C>G p.L16V Missense 1/9 -
9-35079467-T-C FANCG c.55A>G p.K19E Missense 1/14 -
17-41197702-T-A BRCA1 c.5585A>T p.H1862L Missense 23/23 -
12-46245317-CAG-C ARID2 c.3411_3412delAG p.G1139Sfs*20 Frameshift 15/21 -
15-91346870-T-C BLM c.3478T>C p.Y1160H Missense 18/22 -
4-1369242-C-T UVSSA c.1379C>T p.A460V Missense 9/14 -
4-87671947-C-T PTPN13 c.2975C>T p.P992L Missense 18/48 -
16-23641332-C-T PALB2 c.2143G>A p.D715N Missense 5/13 -
16-23646878-T-C PALB2 c.989A>G p.N330S Missense 4/13 -
5-67591145-ATACTTGATGT-A PIK3R1 c.1738_1745+2delTACTTGATGT - SpliceDonorDeletion 13/16 13/15
19-11123788-C-T SMARCA4 c.2438C>T p.S813L Missense 16/35 -
1-158596707-C-A SPTA1 c.5755G>T p.A1919S Missense 41/52 -
4-25677901-ATCT-A SLC34A2 c.1612_1614delTTC p.F538del InFrameDeletion 13/13 -
3-52623085-C-G PBRM1 c.2965+1G>C - IntronicSNV - 19/29
7-140508704-C-T BRAF c.596G>A p.R199K Missense 4/18 -
12-49431142-G-A KMT2D c.9997C>T p.Q3333* Nonsense 35/55 -
15-91310200-C-G BLM c.2254C>G p.Q752E Missense 10/22 -
3-183225879-C-A KLHL6 c.877G>T p.E293* Nonsense 3/7 -
15-88678508-C-A NTRK3 c.1028G>T p.R343L Missense 10/20 -
19-10602257-C-A KEAP1 c.1321G>T p.E441* Nonsense 3/6 -
5-24535297-C-A CDH10 c.738G>T p.M246I Missense 5/12 -
19-1207045-C-T STK11 c.133C>T p.L45F Missense 1/10 -
13-48951166-C-G RB1 c.1328C>G p.S443* Nonsense 13/27 -
3-183217537-C-T KLHL6 c.988G>A p.D330N Missense 4/7 -
5-24509793-C-A CDH10 c.1138G>T p.E380* Nonsense 7/12 -
12-124885199-G-A NCOR2 c.1661C>T p.S554L Missense 17/49 -
2-141812693-G-T LRP1B c.1544C>A p.S515* Nonsense 10/91 -
20-40733255-C-A PTPRT c.3494G>T p.R1165M Missense 25/31 -
8-139153549-G-T FAM135B c.3682C>A p.L1228I Missense 17/20 -
17-29683579-G-T NF1 c.7717G>T p.A2573S Missense 52/58 -
2-141108376-C-A LRP1B c.11882G>T p.S3961I Missense 77/91 -
2-141055406-G-T LRP1B c.12938C>A p.P4313Q Missense 84/91 -
1-150551619-C-T MCL1 c.388G>A p.E130K Missense 1/3 -
12-57559904-G-T LRP1 c.2709G>T p.E903D Missense 17/89 -
2-141773407-C-A LRP1B c.2048G>T p.G683V Missense 13/91 -
1-158637678-C-A SPTA1 c.2008G>T p.E670* Nonsense 15/52 -
4-20482357-G-T SLIT2 c.486G>T p.Q162H Missense 6/37 -
12-57571248-G-T LRP1 c.4235G>T p.R1412L Missense 26/89 -
9-139397646-C-A NOTCH1 c.5155G>T p.E1719* Nonsense 27/34 -
7-142658027-G-A KEL c.388C>T p.R130W Missense 4/19 -
4-55570043-A-G KIT c.910A>G p.T304A Missense 5/21 -
4-55133537-A-G PDGFRA c.841A>G p.T281A Missense 6/23 -
4-20469422-G-T SLIT2 c.443G>T p.R148L Missense 5/37 -
4-55146592-G-A PDGFRA c.2266G>A p.D756N Missense 16/23 -
22-21336817-C-T LZTR1 c.157C>T p.R53C Missense 1/21 -
22-24143216-A-G SMARCB1 c.448A>G p.T150A Missense 4/9 -
X-47034471-C-T RBM10 c.556C>T p.R186* Nonsense 6/24 -
3-10183835-C-T VHL c.304C>T p.P102S Missense 1/3 -
5-24537654-C-A CDH10 c.361G>T p.E121* Nonsense 3/12 -
2-16082736-G-T MYCN c.550G>T p.A184S Missense 2/3 -
22-29091732-C-T CHEK2 c.1225G>A p.D409N Missense 11/15 -
1-158609722-C-G SPTA1 c.4813G>C p.E1605Q Missense 34/52 -
9-2039815-GCAA-G SMARCA2 c.708_710delACA p.Q238del InFrameDeletion 4/34 -
16-2134692-A-G TSC2 c.4469A>G p.E1490G Missense 34/42 -
19-11169554-G-T SMARCA4 c.4624G>T p.E1542* Nonsense 32/35 -
9-98241377-C-A PTCH1 c.1120G>T p.E374* Nonsense 8/24 -
1-158592778-G-T SPTA1 c.6115C>A p.Q2039K Missense 43/52 -
3-178938908-A-G PIK3CA c.2150A>G p.D717G Missense 14/21 -
7-116415105-C-A MET c.3199C>A p.Q1067K Missense 15/21 -
2-100024580-C-G REV1 c.2359G>C p.D787H Missense 15/23 -
1-16257043-G-T SPEN c.4308G>T p.L1436F Missense 11/15 -
1-158654938-A-G SPTA1 c.224T>C p.I75T Missense 2/52 -
17-29509666-G-GA NF1 c.872_872dup p.N292Kfs*5 Frameshift 8/58 -
10-89720868-AT-A PTEN c.1023delT p.F341Lfs*3 Frameshift 8/9 -
22-19279131-G-T CLTCL1 c.34C>A p.H12N Missense 1/33 -
1-120459214-C-T NOTCH2 c.6131G>A p.R2044H Missense 34/34 -
1-158605704-G-A SPTA1 c.5431C>T p.R1811* Nonsense 38/52 -
17-7579340-G-C TP53 c.347C>G p.S116C Missense 4/11 -
19-1220410-A-T STK11 c.503A>T p.H168L Missense 4/10 -
13-34398073-T-A RFC3 c.245T>A p.I82N Missense 3/9 -
11-69456106-G-A CCND1 c.25G>A p.E9K Missense 1/5 -
16-23646559-C-A PALB2 c.1308G>T p.K436N Missense 4/13 -
2-47635629-G-C MSH2 c.301G>C p.E101Q Missense 2/16 -
11-108119818-T-A ATM c.1224T>A p.D408E Missense 9/63 -
16-23652436-C-A PALB2 c.43G>T p.E15* Nonsense 1/13 -
17-29554310-G-T NF1 c.2325+1G>T - IntronicSNV - 19/57
9-98221936-G-A PTCH1 c.2833C>T p.R945* Nonsense 17/24 -
2-173420900-C-T PDK1 c.22C>T p.R8C Missense 1/11 -
19-10597488-T-C KEAP1 c.1715A>G p.Y572C Missense 6/6 -
9-98240371-C-T PTCH1 c.1313G>A p.S438N Missense 9/24 -
13-110435327-G-A IRS2 c.3074C>T p.P1025L Missense 1/2 -
15-88678617-C-T NTRK3 c.919G>A p.V307M Missense 10/20 -
9-2186225-G-A SMARCA2 c.4591G>A p.E1531K Missense 32/34 -
2-178098977-A-G NFE2L2 c.68T>C p.L23P Missense 2/5 -
5-149510201-C-T PDGFRB c.1268G>A p.S423N Missense 9/23 -
7-148544344-C-A EZH2 c.47G>T p.R16L Missense 2/20 -
X-47041699-A-T RBM10 c.1924A>T p.K642* Nonsense 17/24 -
17-29552189-G-A NF1 c.1922G>A p.S641N Missense 17/58 -
16-72829710-G-A ZFHX3 c.6871C>T p.Q2291* Nonsense 9/10 -
21-36164646-G-A RUNX1 c.1229C>T p.S410L Missense 9/9 -
4-187541988-T-C FAT1 c.5752A>G p.I1918V Missense 10/27 -
13-48941684-G-T RB1 c.994G>T p.D332Y Missense 10/27 -
7-148464815-G-A CUL1 c.1057G>A p.E353K Missense 9/22 -
16-3778455-A-T CREBBP c.6593T>A p.L2198Q Missense 31/31 -
3-142297514-C-T ATR c.33G>A p.M11I Missense 1/47 -
3-134920337-G-A EPHB1 c.2152G>A p.V718M Missense 12/16 -
17-7578371-C-G TP53 c.559G>C p.G187R Missense 5/11 -
5-180039609-C-T FLT4 c.3434G>A p.R1145H Missense 26/30 -
12-56480335-T-C ERBB3 c.442T>C p.Y148H Missense 4/28 -
2-30143341-G-C ALK c.185C>G p.S62W Missense 1/29 -
16-23614908-C-T PALB2 c.3433G>A p.G1145S Missense 13/13 -
16-2122886-G-A TSC2 c.2257G>A p.A753T Missense 21/42 -
X-47041723-C-T RBM10 c.1948C>T p.Q650* Nonsense 17/24 -
22-41560115-G-T EP300 c.3787G>T p.E1263* Nonsense 22/31 -
11-94204896-G-A MRE11 c.689C>T p.P230L Missense 8/20 -
4-187628266-G-A FAT1 c.2716C>T p.Q906* Nonsense 2/27 -
6-138199888-G-A TNFAIP3 c.1306G>A p.G436R Missense 7/9 -
2-29462617-T-C ALK c.2284A>G p.I762V Missense 13/29 -
19-10610178-G-A KEAP1 c.532C>T p.Q178* Nonsense 2/6 -
9-21971098-C-T CDKN2A c.260G>A p.R87Q Missense 2/3 -
7-116414971-G-A MET c.3065G>A p.R1022Q Missense 15/21 -
1-11199373-C-G MTOR c.5118G>C p.K1706N Missense 36/58 -
12-49426355-G-A KMT2D c.12133C>T p.Q4045* Nonsense 40/55 -
16-72821609-G-GCCA ZFHX3 c.10565_10566insTGG p.G3527dup InFrameInsertion 10/10 -
2-30142927-C-G ALK c.599G>C p.R200T Missense 1/29 -
1-11303223-G-A MTOR c.1360C>T p.R454C Missense 9/58 -
5-176523292-G-A FGFR4 c.1949G>A p.R650H Missense 15/18 -
7-142459771-G-A PRSS1 c.347G>A p.R116H Missense 3/5 -
13-48955457-G-A RB1 c.1573G>A p.A525T Missense 17/27 -
9-98238342-G-C PTCH1 c.1702C>G p.P568A Missense 12/24 -
3-10107658-C-T FANCD2 c.2380C>T p.R794* Nonsense 25/44 -
16-89874739-C-G FANCA c.559G>C p.V187L Missense 6/43 -
2-29455173-C-T ALK c.2629G>A p.A877T Missense 15/29 -
X-39933640-G-A BCOR c.959C>T p.A320V Missense 4/15 -
12-69207406-G-C MDM2 c.172G>C p.E58Q Missense 3/11 -
22-41489069-C-G EP300 c.61C>G p.P21A Missense 1/31 -
9-93626926-C-T SYK c.773C>T p.P258L Missense 5/14 -
11-119155706-A-G CBL c.1459A>G p.M487V Missense 10/16 -
3-134644700-G-T EPHB1 c.101G>T p.W34L Missense 2/16 -
2-178098882-C-G NFE2L2 c.163G>C p.E55Q Missense 2/5 -
7-151859653-T-C KMT2C c.11009A>G p.N3670S Missense 43/59 -
6-152265484-G-A ESR1 c.937G>A p.D313N Missense 4/8 -
17-41244901-C-T BRCA1 c.2647G>A p.A883T Missense 10/23 -
17-7578457-GC-G TP53 c.473delG p.R158Pfs*12 Frameshift 5/11 -
X-70356243-G-T MED12 c.5138G>T p.R1713L Missense 37/45 -
7-81374372-C-A HGF c.690G>T p.K230N Missense 6/18 -
17-7577035-CT-C TP53 c.903delA p.S303Afs*42 Frameshift 8/11 -
16-23632737-T-C PALB2 c.3059A>G p.Q1020R Missense 10/13 -
16-23632714-C-G PALB2 c.3082G>C p.G1028R Missense 10/13 -
1-156838353-G-A NTRK1 c.631G>A p.V211M Missense 6/17 -
13-26928012-G-A CDK8 c.451G>A p.D151N Missense 4/13 -
16-11348892-G-T SOCS1 c.444C>A p.F148L Missense 2/2 -
1-11190590-G-C MTOR c.5609C>G p.T1870S Missense 39/58 -
19-19257570-C-T MEF2B c.656G>A p.R219Q Missense 6/9 -
3-89499444-G-A EPHA3 c.2614G>A p.E872K Missense 15/17 -
12-46246523-T-TA ARID2 c.4618dupA p.T1540Nfs*4 Frameshift 15/21 -
2-47698140-T-A MSH2 c.1698T>A p.N566K Missense 11/16 -
16-23641422-TG-T PALB2 c.2052delC p.R686Gfs*23 Frameshift 5/13 -
1-27023762-A-G ARID1A c.868A>G p.T290A Missense 1/20 -
10-43612057-G-A RET c.2162G>A p.R721Q Missense 12/20 -
17-37618715-G-A CDK12 c.391G>A p.E131K Missense 1/14 -
10-43572762-T-C RET c.56T>C p.L19P Missense 1/20 -
5-131978019-A-G RAD50 c.3902A>G p.K1301R Missense 25/25 -
2-141294168-C-A LRP1B c.7624G>T p.E2542* Nonsense 46/91 -
1-11199444-G-A MTOR c.5047C>T p.R1683W Missense 36/58 -
12-133218901-G-A POLE c.5035C>T p.R1679C Missense 38/49 -
10-70450664-C-T TET1 c.5504C>T p.P1835L Missense 12/12 -
15-91310239-G-A BLM c.2293G>A p.V765I Missense 10/22 -
6-106552940-G-A PRDM1 c.905G>A p.R302Q Missense 5/7 -
2-25459868-C-A DNMT3A c.2415G>T p.L805F Missense 21/23 -
17-7577048-T-G TP53 c.890A>C p.H297P Missense 8/11 -
2-25459868-C-G DNMT3A c.2415G>C p.L805F Missense 21/23 -
12-12006456-A-T ETV6 c.424A>T p.T142S Missense 4/8 -
12-49441815-GC-G KMT2D c.4168delG p.A1390Qfs*27 Frameshift 15/55 -
21-36164607-C-T RUNX1 c.1268G>A p.R423H Missense 9/9 -
2-25467139-T-C DNMT3A c.1736A>G p.D579G Missense 15/23 -
22-23596108-A-G BCR c.1402A>G p.S468G Missense 2/23 -
19-10469924-C-G TYK2 c.2102G>C p.R701T Missense 15/25 -
2-25458628-G-T DNMT3A c.2545C>A p.P849T Missense 22/23 -
19-10475547-G-A TYK2 c.1189C>T p.R397W Missense 8/25 -
7-140481480-C-G BRAF c.1328G>C p.R443T Missense 11/18 -
6-152332849-G-T ESR1 c.1155G>T p.E385D Missense 5/8 -
7-55223636-A-C EGFR c.1003A>C p.K335Q Missense 8/28 -
11-32456683-C-T WT1 c.209G>A p.G75D Missense 1/10 -
2-48027283-A-G MSH6 c.2161A>G p.R721G Missense 4/10 -
2-47657008-C-G MSH2 c.1204C>G p.Q402E Missense 7/16 -
3-128200062-C-T GATA2 c.1243G>A p.E415K Missense 6/6 -
12-57589969-C-T LRP1 c.8801C>T p.S2934L Missense 55/89 -
3-51680401-G-T RAD54L2 c.2930G>T p.R977L Missense 19/23 -
6-152420091-C-A ESR1 c.1778C>A p.A593D Missense 8/8 -
13-48934251-A-T RB1 c.706A>T p.K236* Nonsense 7/27 -
3-37067437-G-T MLH1 c.1348G>T p.D450Y Missense 12/19 -
4-187535345-C-A FAT1 c.9229G>T p.G3077C Missense 12/27 -
2-48010536-C-T MSH6 c.164C>T p.P55L Missense 1/10 -
1-158644175-T-C SPTA1 c.1294A>G p.T432A Missense 10/52 -
16-23647106-G-A PALB2 c.761C>T p.S254L Missense 4/13 -
X-39933940-G-A BCOR c.659C>T p.A220V Missense 4/15 -
10-8100582-T-C GATA3 c.556T>C p.Y186H Missense 3/6 -
7-42006050-C-T GLI3 c.2621G>A p.R874H Missense 15/15 -
10-8097647-G-T GATA3 c.29G>T p.W10L Missense 2/6 -
16-81979858-G-A PLCG2 c.3560G>A p.R1187Q Missense 31/33 -
10-8100602-C-A GATA3 c.576C>A p.D192E Missense 3/6 -
8-41563662-C-T ANK1 c.2096G>A p.R699Q Missense 18/43 -
18-18547759-T-C ROCK1 c.3146A>G p.N1049S Missense 26/33 -
10-70332613-T-C TET1 c.518T>C p.I173T Missense 2/12 -
14-95572101-G-A DICER1 c.3007C>T p.R1003* Nonsense 19/27 -
21-36164539-G-A RUNX1 c.1336C>T p.L446F Missense 9/9 -
3-128205181-G-C GATA2 c.260C>G p.P87R Missense 3/6 -
7-55249070-A-T EGFR c.2368A>T p.T790S Missense 20/28 -
10-84745186-G-A NRG3 c.1916G>A p.R639Q Missense 9/9 -
2-29432685-A-C ALK c.3803T>G p.I1268S Missense 25/29 -
12-57864192-C-T GLI1 c.1669C>T p.R557C Missense 12/12 -
2-29456502-G-C ALK c.2416C>G p.R806G Missense 14/29 -
1-156834171-C-A NTRK1 c.238C>A p.Q80K Missense 2/17 -
5-149499063-C-T PDGFRB c.2765G>A p.R922H Missense 20/23 -
16-23646411-T-C PALB2 c.1456A>G p.K486E Missense 4/13 -
11-32439155-C-A WT1 c.918G>T p.W311C Missense 4/10 -
15-91312674-C-T BLM c.2413C>T p.H805Y Missense 12/22 -
12-133245062-G-A POLE c.2053C>T p.R685W Missense 19/49 -
5-112173299-A-T APC c.2008A>T p.K670* Nonsense 16/16 -
5-251216-G-A SDHA c.1661G>A p.R554Q Missense 12/15 -
8-139209815-C-T FAM135B c.767G>A p.R256H Missense 8/20 -
19-13059959-C-T RAD23A c.665C>T p.P222L Missense 6/9 -
8-37687409-C-T ADGRA2 c.595C>T p.R199C Missense 6/19 -
16-3832751-G-A CREBBP c.1507C>T p.Q503* Nonsense 6/31 -
4-187557792-C-A FAT1 c.3919G>T p.G1307* Nonsense 5/27 -
8-103238196-G-A RRM2B c.271C>T p.H91Y Missense 3/9 -
6-35426107-C-T FANCE c.1003C>T p.Q335* Nonsense 5/10 -
17-1782605-G-A RPA1 c.856G>A p.V286I Missense 10/17 -
17-38510626-C-T RARA c.880C>T p.R294W Missense 7/9 -
17-38510642-A-G RARA c.896A>G p.N299S Missense 7/9 -
8-42821716-G-C HOOK3 c.880G>C p.D294H Missense 10/22 -
11-114112927-C-T ZBTB16 c.1492C>T p.R498C Missense 5/7 -
1-158614138-C-T SPTA1 c.4243G>A p.E1415K Missense 30/52 -
5-23522947-C-T PRDM9 c.835C>T p.R279* Nonsense 8/11 -
4-20620574-C-T SLIT2 c.4532C>T p.S1511F Missense 37/37 -
4-20570537-G-A SLIT2 c.2998G>A p.D1000N Missense 29/37 -
4-20544117-G-A SLIT2 c.2144G>A p.G715E Missense 21/37 -
1-27106333-G-A ARID1A c.5944G>A p.V1982I Missense 20/20 -
16-2636684-A-G PDPK1 c.1133A>G p.N378S Missense 11/14 -
2-141108409-C-A LRP1B c.11849G>T p.R3950M Missense 77/91 -
2-141680639-G-A LRP1B c.3214C>T p.R1072C Missense 21/91 -
17-17122403-G-A FLCN c.992C>T p.S331F Missense 9/14 -
3-60522595-C-A FHIT c.101G>T p.G34V Missense 5/10 -
3-134851687-G-T EPHB1 c.1093G>T p.A365S Missense 5/16 -
16-23646396-C-A PALB2 c.1471G>T p.A491S Missense 4/13 -
2-29917727-T-C ALK c.941A>G p.E314G Missense 3/29 -
12-58145367-C-T CDK4 c.134G>A p.G45D Missense 2/8 -
13-43155275-G-A TNFSF11 c.233G>A p.R78K Missense 2/5 -
X-76937401-G-C ATRX c.3347C>G p.S1116C Missense 9/35 -
20-54945344-G-A AURKA c.1082C>T p.S361L Missense 9/9 -
1-158615134-C-A SPTA1 c.4038G>T p.Q1346H Missense 29/52 -
11-102195343-A-G BIRC3 c.103A>G p.T35A Missense 2/9 -
2-225370723-C-T CUL3 c.1156G>A p.E386K Missense 8/16 -
8-139165348-C-T FAM135B c.1370G>A p.R457K Missense 13/20 -
3-30713909-G-T TGFBR2 c.1234G>T p.D412Y Missense 4/7 -
2-141946137-G-A LRP1B c.866C>T p.A289V Missense 7/91 -
16-2220634-G-A TRAF7 c.251G>A p.R84H Missense 5/21 -
12-133219305-C-T POLE c.4739G>A p.R1580Q Missense 37/49 -
13-32910701-G-A BRCA2 c.2209G>A p.A737T Missense 11/27 -
14-95574256-C-T DICER1 c.2611G>A p.D871N Missense 16/27 -
5-112178178-G-A APC c.6887G>A p.S2296N Missense 16/16 -
16-9858064-G-A GRIN2A c.3337C>T p.P1113S Missense 13/13 -
16-2115596-A-T TSC2 c.1676A>T p.D559V Missense 16/42 -
5-56168656-G-A MAP3K1 c.1510G>A p.E504K Missense 9/20 -
2-141299522-G-A LRP1B c.7213C>T p.P2405S Missense 44/91 -
9-8501056-G-T PTPRD c.1826C>A p.P609Q Missense 24/46 -
9-135776191-C-A TSC1 c.2536G>T p.E846* Nonsense 20/23 -
5-35875633-C-T IL7R c.820C>T p.P274S Missense 7/8 -
16-3777952-G-A CREBBP c.7096C>T p.R2366W Missense 31/31 -
12-46245243-G-A ARID2 c.3337G>A p.G1113R Missense 15/21 -
9-135804167-C-A TSC1 c.93G>T p.E31D Missense 3/23 -
10-43600522-C-T RET c.748C>T p.R250C Missense 4/20 -
7-137613006-G-A CREB3L2 c.209C>T p.P70L Missense 2/12 -
4-20525772-G-T SLIT2 c.1410G>T p.Q470H Missense 14/37 -
3-189526184-G-A TP63 c.448G>A p.A150T Missense 4/14 -
1-120458305-C-T NOTCH2 c.7040G>A p.R2347H Missense 34/34 -
3-183273288-C-T KLHL6 c.154G>A p.A52T Missense 1/7 -
5-176523730-G-GC FGFR4 c.2147dupC p.E717Rfs*8 Frameshift 16/18 -
3-142215345-A-G ATR c.5756T>C p.M1919T Missense 34/47 -
16-89805083-C-A FANCA c.4294G>T p.V1432L Missense 43/43 -
9-139409983-G-A NOTCH1 c.1855C>T p.Q619* Nonsense 11/34 -
1-91859839-T-A HFM1 c.305A>T p.D102V Missense 4/39 -
13-32911073-CA-C BRCA2 c.2588delA p.N863Ifs*11 Frameshift 11/27 -
16-72821959-C-CG ZFHX3 c.10215dupC p.G3406Rfs*25 Frameshift 10/10 -
6-146275963-C-CT SHPRH c.495dupA p.E166Rfs*7 Frameshift 2/30 -
7-151900080-AT-A KMT2C c.4030delA p.I1344* Frameshift 26/59 -
16-2130219-G-A TSC2 c.3451G>A p.G1151S Missense 30/42 -
5-86658451-TA-T RASA1 c.1421delA p.N474Tfs*9 Frameshift 10/25 -
7-81332019-C-A HGF c.2065G>T p.G689C Missense 18/18 -
3-133375611-C-T TOPBP1 c.454G>A p.G152S Missense 5/28 -
17-58701021-G-T PPM1D c.612G>T p.K204N Missense 2/6 -
11-108173745-C-T ATM c.5485C>T p.P1829S Missense 36/63 -
17-7579436-GC-G TP53 c.250delG p.A84Pfs*39 Frameshift 4/11 -
19-1218500-A-G STK11 c.374+1A>G - IntronicSNV - 2/9
16-89833568-G-A FANCA c.2582C>T p.S861F Missense 27/43 -
16-89858890-G-C FANCA c.1072C>G p.L358V Missense 12/43 -
17-29496992-C-A NF1 c.563C>A p.A188E Missense 5/58 -
8-68956825-G-A PREX2 c.943G>A p.A315T Missense 8/40 -
4-187540305-G-A FAT1 c.7435C>T p.H2479Y Missense 10/27 -
17-57181746-C-T TRIM37 c.31G>A p.E11K Missense 2/24 -
5-80168985-A-G MSH3 c.3181A>G p.R1061G Missense 23/24 -
10-8100654-G-A GATA3 c.628G>A p.G210R Missense 3/6 -
1-11190765-C-T MTOR c.5434G>A p.D1812N Missense 39/58 -
1-158585172-C-T SPTA1 c.6622G>A p.A2208T Missense 48/52 -
2-109382731-T-G RANBP2 c.5736T>G p.S1912R Missense 20/29 -
20-31024233-T-C ASXL1 c.3718T>C p.C1240R Missense 13/13 -
9-21974730-CCAG-C CDKN2A c.94_96delCTG p.L32del InFrameDeletion 1/3 -
3-89391162-G-C EPHA3 c.1228G>C p.D410H Missense 5/17 -
16-89882381-C-G FANCA c.93G>C p.K31N Missense 2/43 -
11-32421568-C-T WT1 c.1024G>A p.D347N Missense 6/10 -
12-133237577-C-T POLE c.3038G>A p.W1013* Nonsense 25/49 -
2-234677040-C-T UGT1A5 c.1262C>T p.S421F Missense 4/5 -
4-187630278-C-A FAT1 c.704G>T p.S235I Missense 2/27 -
2-212248684-G-A ERBB4 c.3583C>T p.P1195S Missense 28/28 -
16-11000403-G-A CIITA c.1054G>A p.E352K Missense 11/20 -
X-70346843-G-T MED12 c.2710G>T p.E904* Nonsense 20/45 -
2-29498343-C-T ALK c.1837G>A p.A613T Missense 10/29 -
3-52443894-T-C BAP1 c.1A>G p.M1? Missense 1/17 -
5-112179557-A-G APC c.8266A>G p.I2756V Missense 16/16 -
22-30077482-G-C NF2 c.1629G>C p.K543N Missense 15/16 -
4-55131140-G-T PDGFRA c.683G>T p.G228V Missense 5/23 -
3-52623229-G-A PBRM1 c.2822C>T p.S941L Missense 19/30 -
16-89842176-C-T FANCA c.1874G>A p.C625Y Missense 21/43 -
1-156838381-G-A NTRK1 c.659G>A p.R220Q Missense 6/17 -
3-47161801-G-A SETD2 c.4325C>T p.S1442L Missense 3/21 -
19-17945780-C-T JAK3 c.2080G>A p.E694K Missense 16/24 -
15-88727457-G-T NTRK3 c.322C>A p.L108M Missense 4/20 -
13-29041075-T-A FLT1 c.353A>T p.K118M Missense 3/30 -
9-87317280-G-T NTRK2 c.305G>T p.G102V Missense 4/19 -
5-156665173-G-T ITK c.823G>T p.V275L Missense 9/17 -
15-88679802-C-A NTRK3 c.661G>T p.V221L Missense 8/20 -
11-108121562-G-C ATM c.1370G>C p.R457P Missense 10/63 -
9-87338624-G-C NTRK2 c.720G>C p.M240I Missense 7/19 -
5-148886653-C-A CSNK1A1 c.794G>T p.G265V Missense 8/10 -
19-4409685-G-A CHAF1A c.889G>A p.E297K Missense 3/15 -
3-130962292-G-A NEK11 c.1573G>A p.E525K Missense 16/18 -
10-83635422-G-T NRG3 c.326G>T p.G109V Missense 1/9 -
13-29002009-G-T FLT1 c.1156C>A p.R386S Missense 9/30 -
15-93482926-C-T CHD2 c.670C>T p.R224* Nonsense 7/39 -
X-47028875-C-G RBM10 c.179C>G p.S60* Nonsense 3/24 -
19-11107056-G-T SMARCA4 c.1761G>T p.K587N Missense 10/35 -
3-126708409-G-T PLXNA1 c.973G>T p.A325S Missense 2/32 -
X-70360588-GAGC-G MED12 c.6165_6167delGCA p.Q2076del InFrameDeletion 42/45 -
5-176638711-A-G NSD1 c.3311A>G p.H1104R Missense 5/23 -
3-89391019-T-C EPHA3 c.1085T>C p.I362T Missense 5/17 -
X-123159736-G-T STAG2 c.91G>T p.E31* Nonsense 4/35 -
22-22221654-G-T MAPK1 c.77C>A p.T26N Missense 1/9 -
1-158656285-G-A SPTA1 c.23C>T p.T8I Missense 1/52 -
2-128028923-C-A ERCC3 c.1934G>T p.R645L Missense 12/15 -
13-32911085-G-A BRCA2 c.2593G>A p.E865K Missense 11/27 -
15-93528878-G-A CHD2 c.3388G>A p.G1130R Missense 26/39 -
5-35873670-C-T IL7R c.626C>T p.P209L Missense 5/8 -
4-187518002-G-A FAT1 c.12692C>T p.P4231L Missense 25/27 -
16-1544301-GA-AG TELO2 c.19_20delGAinsAG p.E7R Missense 2/21 -
8-68864748-G-A PREX2 c.119G>A p.G40D Missense 1/40 -
5-176636707-G-A NSD1 c.1307G>A p.G436E Missense 5/23 -
11-108225548-A-G ATM c.8797A>G p.K2933E Missense 61/63 -
16-23649230-G-A PALB2 c.152C>T p.T51I Missense 3/13 -
16-23641779-G-A PALB2 c.1696C>T p.R566C Missense 5/13 -
16-23640578-G-A PALB2 c.2533C>T p.P845S Missense 6/13 -
1-243736269-C-T AKT3 c.778G>A p.D260N Missense 9/14 -
4-106156810-C-T TET2 c.1711C>T p.R571C Missense 3/11 -
2-141459350-T-A LRP1B c.6367A>T p.R2123* Nonsense 40/91 -
2-233198649-C-T DIS3L2 c.2110C>T p.R704C Missense 17/21 -
9-35078250-G-A FANCG c.398C>T p.P133L Missense 4/14 -
2-141128831-C-T LRP1B c.10792G>A p.E3598K Missense 70/91 -
3-89259629-C-T EPHA3 c.773C>T p.S258F Missense 3/17 -
6-93967900-C-T EPHA7 c.2027G>A p.R676K Missense 11/17 -
X-123185040-A-G STAG2 c.1087A>G p.K363E Missense 12/35 -
3-181430799-G-A SOX2 c.651G>A p.M217I Missense 1/1 -
4-106156003-G-C TET2 c.904G>C p.D302H Missense 3/11 -
1-243736331-C-G AKT3 c.716G>C p.R239T Missense 9/14 -
7-41739896-G-A INHBA c.77C>T p.S26F Missense 2/3 -
3-47125800-T-A SETD2 c.5470A>T p.I1824F Missense 12/21 -
12-115114223-C-T TBX3 c.934G>A p.E312K Missense 5/7 -
7-6441589-G-A RAC1 c.379G>A p.E127K Missense 5/6 -
12-46233237-A-G ARID2 c.1456A>G p.I486V Missense 11/21 -
17-37627724-C-T CDK12 c.1639C>T p.Q547* Nonsense 2/14 -
X-53250092-G-A KDM5C c.157C>T p.Q53* Nonsense 2/26 -
1-11316222-T-C MTOR c.532A>G p.S178G Missense 5/58 -
9-135782182-A-T TSC1 c.1374T>A p.D458E Missense 14/23 -
19-11145764-G-A SMARCA4 c.4126G>A p.E1376K Missense 29/35 -
19-11144051-A-T SMARCA4 c.3632A>T p.E1211V Missense 26/35 -
19-11098521-C-T SMARCA4 c.1039C>T p.Q347* Nonsense 6/35 -
19-11130271-C-T SMARCA4 c.2510C>T p.S837F Missense 18/35 -
19-11105534-A-T SMARCA4 c.1450A>T p.K484* Nonsense 9/35 -
9-133760305-G-T ABL1 c.2628G>T p.R876S Missense 11/11 -
19-11105633-A-G SMARCA4 c.1549A>G p.K517E Missense 9/35 -
19-11123674-G-T SMARCA4 c.2324G>T p.G775V Missense 16/35 -
11-102195365-G-T BIRC3 c.125G>T p.G42V Missense 2/9 -
19-11105546-G-T SMARCA4 c.1462G>T p.E488* Nonsense 9/35 -
19-11129646-T-A SMARCA4 c.2452T>A p.W818R Missense 17/35 -
19-11113802-G-A SMARCA4 c.1910G>A p.G637E Missense 12/35 -
11-118343855-G-A KMT2A c.1981G>A p.V661I Missense 3/36 -
1-27106249-A-G ARID1A c.5860A>G p.I1954V Missense 20/20 -
4-55604658-C-T KIT c.2866C>T p.R956W Missense 21/21 -
19-855794-C-T ELANE c.597C>T p.F199= Synonymous 4/5 -
14-36986793-G-A NKX2-1 c.896C>T p.P299L Missense 3/3 -
1-226253448-G-C H3-3A c.220G>C p.E74Q Missense 3/4 -
X-47035902-TC-T RBM10 c.583delC p.L195Sfs*71 Frameshift 7/24 -
15-88423587-C-T NTRK3 c.2248G>A p.E750K Missense 19/20 -
15-38614537-T-TA SPRED1 c.304dupA p.T102Nfs*7 Frameshift 3/7 -
2-29917835-G-A ALK c.833C>T p.P278L Missense 3/29 -
7-55242466-GAATTAAGAGAAGCAACATCTC-CTCT EGFR c.2236_2257delinsCTCT p.E746_P753delinsLS MultiAAMissense 19/28 -
14-45644349-A-G FANCM c.2392A>G p.R798G Missense 14/23 -
16-10031815-C-A GRIN2A c.1007+1G>T - IntronicSNV - 3/12
2-141773372-G-T LRP1B c.2083C>A p.L695M Missense 13/91 -
9-98242731-A-G PTCH1 c.886T>C p.C296R Missense 6/24 -
16-23646541-A-C PALB2 c.1326T>G p.N442K Missense 4/13 -
16-23646311-G-T PALB2 c.1556C>A p.A519D Missense 4/13 -
2-178098988-C-G NFE2L2 c.57G>C p.L19F Missense 2/5 -
12-56492590-G-C ERBB3 c.2740G>C p.G914R Missense 23/28 -
13-48953755-A-T RB1 c.1358A>T p.Y453F Missense 14/27 -
1-27023042-A-G ARID1A c.148A>G p.M50V Missense 1/20 -
11-108155009-G-A ATM c.3802G>A p.V1268M Missense 26/63 -
16-89877455-G-A FANCA c.308C>T p.S103L Missense 4/43 -
9-80430646-A-C GNAQ c.362T>G p.V121G Missense 3/7 -
22-41564837-G-A EP300 c.4138G>A p.E1380K Missense 25/31 -
12-112910782-G-A PTPN11 c.791G>A p.S264N Missense 7/16 -
5-180051032-G-T FLT4 c.1451C>A p.P484Q Missense 11/30 -
12-49425839-G-A KMT2D c.12649C>T p.Q4217* Nonsense 40/55 -
12-46230734-G-T ARID2 c.983G>T p.R328M Missense 8/21 -
5-11082871-C-G CTNND2 c.2725G>C p.V909L Missense 16/22 -
3-30713601-C-T TGFBR2 c.926C>T p.T309M Missense 4/7 -
6-162622243-C-T PRKN c.454G>A p.G152S Missense 4/12 -
19-10600416-C-A KEAP1 c.1439G>T p.G480V Missense 4/6 -
5-112177043-A-G APC c.5752A>G p.I1918V Missense 16/16 -
16-23649267-G-A PALB2 c.115C>T p.Q39* Nonsense 3/13 -
16-23647206-C-T PALB2 c.661G>A p.V221I Missense 4/13 -
11-108139279-G-T ATM c.2781G>T p.L927F Missense 18/63 -
22-42525781-A-G CYP2D6 c.311T>C p.V104A Missense 2/9 -
13-43148565-CT-C TNFSF11 c.126delT p.A43Pfs*49 Frameshift 1/5 -
18-61324574-T-C SERPINB3 c.542A>G p.Y181C Missense 6/8 -
X-76854937-C-T ATRX c.5899G>A p.E1967K Missense 25/35 -
4-55597532-G-T KIT c.2180G>T p.G727V Missense 15/21 -
12-56481680-C-G ERBB3 c.715C>G p.Q239E Missense 6/28 -
9-135798765-G-A TSC1 c.478C>T p.R160C Missense 6/23 -
12-49416132-C-T KMT2D c.16343G>A p.R5448Q Missense 53/55 -
1-27100175-A-AC ARID1A c.3977dupC p.Q1327Afs*11 Frameshift 16/20 -
17-59885858-C-G BRIP1 c.888G>C p.E296D Missense 7/20 -
16-23641130-G-T PALB2 c.2345C>A p.P782Q Missense 5/13 -
X-76952107-C-T ATRX c.328G>A p.E110K Missense 5/35 -
17-37872647-G-A ERBB2 c.1607G>A p.R536Q Missense 13/27 -
17-38564779-T-A TOP2A c.1307A>T p.K436M Missense 11/35 -
2-29754824-C-T ALK c.1111G>A p.A371T Missense 4/29 -
16-23641376-G-A PALB2 c.2099C>T p.S700L Missense 5/13 -
X-53240802-C-A KDM5C c.1278G>T p.W426C Missense 10/26 -
4-55594200-G-A KIT c.1903G>A p.E635K Missense 13/21 -
3-189584569-C-T TP63 c.865C>T p.P289S Missense 6/14 -
4-55602730-G-T KIT c.2551G>T p.D851Y Missense 18/21 -
19-10610307-G-A KEAP1 c.403C>T p.R135C Missense 2/6 -
2-47639568-GGA-AGC MSH2 c.661_663delGGAinsAGC p.G221S Missense 4/16 -
3-30729955-G-C TGFBR2 c.1476G>C p.L492F Missense 6/7 -
2-173451087-C-T PDK1 c.1027C>T p.R343C Missense 9/11 -
3-89445020-G-A EPHA3 c.1340G>A p.R447Q Missense 6/17 -
2-47639632-A-G MSH2 c.725A>G p.N242S Missense 4/16 -
5-176522701-A-T FGFR4 c.1798A>T p.M600L Missense 13/18 -
12-49426624-A-T KMT2D c.11864T>A p.L3955Q Missense 40/55 -
X-47030585-T-G RBM10 c.201+1688T>G p.D120E UnclassifiedSNV 4/24 -
3-142188222-G-A ATR c.6509C>T p.A2170V Missense 38/47 -
4-187630131-C-T FAT1 c.851G>A p.G284D Missense 2/27 -
9-98220389-C-T PTCH1 c.3074G>A p.R1025H Missense 18/24 -
19-11134277-G-T SMARCA4 c.2943G>T p.K981N Missense 20/35 -
13-32914636-T-G BRCA2 c.6144T>G p.N2048K Missense 11/27 -
19-52716227-C-T PPP2R1A c.671C>T p.A224V Missense 6/15 -
3-52662944-T-C PBRM1 c.1409A>G p.Y470C Missense 13/30 -
19-45867569-T-C ERCC2 c.739A>G p.M247V Missense 9/23 -
9-98231215-C-T PTCH1 c.2068G>A p.V690I Missense 14/24 -
13-32912895-C-G BRCA2 c.4403C>G p.S1468C Missense 11/27 -
5-56111750-C-T MAP3K1 c.350C>T p.A117V Missense 1/20 -
13-32914788-G-C BRCA2 c.6296G>C p.R2099T Missense 11/27 -
1-16202899-C-T SPEN c.607C>T p.P203S Missense 3/15 -
X-47039294-A-T RBM10 c.917A>T p.N306I Missense 10/24 -
2-141607869-G-A LRP1B c.4741C>T p.R1581C Missense 29/91 -
3-47162207-C-T SETD2 c.3919G>A p.D1307N Missense 3/21 -
X-76938775-C-T ATRX c.1973G>A p.R658H Missense 9/35 -
16-23619310-A-T PALB2 c.3225T>A p.S1075R Missense 12/13 -
9-135798863-A-G TSC1 c.380T>C p.V127A Missense 6/23 -
17-63554674-G-A AXIN2 c.65C>T p.P22L Missense 2/11 -
X-123182892-A-T STAG2 c.857A>T p.N286I Missense 10/35 -
2-141359103-C-T LRP1B c.6905G>A p.R2302Q Missense 42/91 -
22-41513599-G-A EP300 c.503G>A p.G168E Missense 2/31 -
4-187509973-C-A FAT1 c.13540G>T p.E4514* Nonsense 27/27 -
16-68845705-C-A CDH1 c.951C>A p.F317L Missense 7/16 -
X-47039333-C-T RBM10 c.956C>T p.A319V Missense 10/24 -
4-187629567-A-C FAT1 c.1415T>G p.F472C Missense 2/27 -
1-156843544-G-C NTRK1 c.970G>C p.E324Q Missense 8/17 -
5-176637034-C-T NSD1 c.1634C>T p.T545M Missense 5/23 -
X-47041654-A-T RBM10 c.1879A>T p.K627* Nonsense 17/24 -
5-112175255-G-A APC c.3964G>A p.E1322K Missense 16/16 -
2-215674197-C-A BARD1 c.97G>T p.A33S Missense 1/11 -
11-32450088-G-T WT1 c.724C>A p.H247N Missense 2/10 -
19-10600361-TC-AT KEAP1 c.1493_1494delGAinsAT p.R498H Missense 4/6 -
11-108213995-G-C ATM c.8315G>C p.G2772A Missense 57/63 -
15-40462838-C-T BUB1B c.340C>T p.R114* Nonsense 4/23 -
16-3808911-C-G CREBBP c.3313G>C p.D1105H Missense 17/31 -
12-92539225-C-A BTG1 c.87G>T p.K29N Missense 1/2 -
5-225584-G-A SDHA c.363G>A p.W121* Nonsense 4/15 -
12-49436527-G-A KMT2D c.5779C>T p.Q1927* Nonsense 27/55 -
9-135780999-C-A TSC1 c.1966G>T p.G656* Nonsense 15/23 -
9-21971147-TG-T CDKN2A c.210delC p.N71Tfs*75 Frameshift 2/3 -
12-4385236-C-G CCND2 c.261C>G p.F87L Missense 2/5 -
7-128851524-G-C SMO c.1849G>C p.A617P Missense 11/12 -
12-49440414-T-A KMT2D c.4396A>T p.K1466* Nonsense 16/55 -
5-131893129-A-G RAD50 c.113A>G p.N38S Missense 1/25 -
16-3779074-C-T CREBBP c.5974G>A p.G1992R Missense 31/31 -
9-98215773-C-T PTCH1 c.3436G>A p.D1146N Missense 20/24 -
16-23637568-G-A PALB2 c.2737C>T p.H913Y Missense 7/13 -
7-128829135-C-T SMO c.143C>T p.A48V Missense 1/12 -
17-70120028-C-G SOX9 c.1030C>G p.P344A Missense 3/3 -
16-23625394-T-A PALB2 c.3132A>T p.Q1044H Missense 11/13 -
3-52437816-C-T BAP1 c.1345G>A p.A449T Missense 13/17 -
1-120468089-C-A NOTCH2 c.4350G>T p.W1450C Missense 25/34 -
2-212615399-C-T ERBB4 c.587G>A p.R196H Missense 5/28 -
2-215645733-G-A BARD1 c.865C>T p.P289S Missense 4/11 -
1-59248123-GGCT-G JUN c.617_619delAGC p.Q206del InFrameDeletion 1/1 -
16-2134293-T-A TSC2 c.4070T>A p.I1357N Missense 34/42 -
7-152357792-C-T XRCC2 c.115G>A p.V39M Missense 2/3 -
16-23646342-C-T PALB2 c.1525G>A p.G509S Missense 4/13 -
16-2110728-C-T TSC2 c.1033C>T p.L345F Missense 11/42 -
22-41573449-C-T EP300 c.5734C>T p.Q1912* Nonsense 31/31 -
16-23632700-C-T PALB2 c.3096G>A p.M1032I Missense 10/13 -
1-45797929-G-A MUTYH c.758C>T p.A253V Missense 10/16 -
6-161781212-G-T PRKN c.1193C>A p.A398D Missense 11/12 -
8-68950505-G-T PREX2 c.817G>T p.V273L Missense 7/40 -
17-29585494-G-T NF1 c.4306G>T p.E1436* Nonsense 32/58 -
7-92462461-G-C CDK6 c.177C>G p.I59M Missense 2/8 -
10-104375077-G-A SUFU c.1075G>A p.E359K Missense 9/12 -
15-88420308-C-A NTRK3 c.2378G>T p.R793L Missense 20/20 -
7-41729978-C-T INHBA c.551G>A p.G184D Missense 3/3 -
2-141201990-G-C LRP1B c.10203C>G p.F3401L Missense 65/91 -
4-143045777-C-A INPP4B c.1857G>T p.M619I Missense 19/26 -
1-226553675-A-T PARP1 c.2485T>A p.Y829N Missense 18/23 -
2-48032846-G-C MSH6 c.3646G>C p.G1216R Missense 7/10 -
12-49427072-G-A KMT2D c.11416C>T p.Q3806* Nonsense 40/55 -
1-27023783-C-T ARID1A c.889C>T p.Q297* Nonsense 1/20 -
3-52441192-T-G BAP1 c.578A>C p.H193P Missense 7/17 -
16-23647236-C-T PALB2 c.631G>A p.E211K Missense 4/13 -
13-32913339-T-A BRCA2 c.4847T>A p.L1616* Nonsense 11/27 -
13-32910896-A-G BRCA2 c.2404A>G p.N802D Missense 11/27 -
13-32911148-A-G BRCA2 c.2656A>G p.N886D Missense 11/27 -
17-41244808-C-G BRCA1 c.2740G>C p.E914Q Missense 10/23 -
17-41244214-C-G BRCA1 c.3334G>C p.E1112Q Missense 10/23 -
14-45633697-C-T FANCM c.1717C>T p.R573* Nonsense 10/23 -
17-41244826-C-G BRCA1 c.2722G>C p.E908Q Missense 10/23 -
20-36031747-A-T SRC c.1576A>T p.T526S Missense 14/14 -
13-32914806-T-C BRCA2 c.6314T>C p.I2105T Missense 11/27 -
13-32914645-T-G BRCA2 c.6153T>G p.N2051K Missense 11/27 -
7-2958174-C-A CARD11 c.2558G>T p.G853V Missense 19/25 -
16-72831854-G-C ZFHX3 c.4727C>G p.A1576G Missense 9/10 -
17-41246379-T-A BRCA1 c.1169A>T p.D390V Missense 10/23 -
3-142177832-C-T ATR c.7471G>A p.V2491I Missense 44/47 -
2-141707966-C-T LRP1B c.2974G>A p.D992N Missense 20/91 -
1-98165090-A-G DPYD c.497T>C p.M166T Missense 6/23 -
2-141115603-C-A LRP1B c.11340G>T p.Q3780H Missense 74/91 -
17-17118562-C-T FLCN c.1369G>A p.D457N Missense 12/14 -
2-25459852-C-G DNMT3A c.2431G>C p.D811H Missense 21/23 -
1-27100204-C-T ARID1A c.4000C>T p.Q1334* Nonsense 16/20 -
16-23647430-C-T PALB2 c.437G>A p.R146K Missense 4/13 -
5-38982093-G-A RICTOR c.629C>T p.T210I Missense 8/38 -
13-32903606-G-T BRCA2 c.658G>T p.V220L Missense 8/27 -
2-25463233-G-C DNMT3A c.2260C>G p.L754V Missense 19/23 -
5-240575-G-A SDHA c.1535G>A p.R512Q Missense 11/15 -
19-1221212-C-G STK11 c.735C>G p.L245= Synonymous 6/10 -
6-116288856-C-A FRK c.657G>T p.L219F Missense 4/8 -
11-44255777-G-A EXT2 c.1919G>A p.G640E Missense 12/14 -
1-46743589-C-G RAD54L c.1970C>G p.S657C Missense 17/18 -
15-42040903-C-T MGA c.5281C>T p.R1761* Nonsense 16/24 -
19-11144125-C-A SMARCA4 c.3706C>A p.Q1236K Missense 26/35 -
16-23646607-C-A PALB2 c.1260G>T p.Q420H Missense 4/13 -
16-68845703-T-C CDH1 c.949T>C p.F317L Missense 7/16 -
11-32417814-C-T WT1 c.1238G>A p.R418K Missense 7/10 -
16-23614950-T-C PALB2 c.3391A>G p.I1131V Missense 13/13 -
X-47422634-C-T ARAF c.106C>T p.R36W Missense 3/16 -
16-23652445-C-G PALB2 c.34G>C p.E12Q Missense 1/13 -
19-10600004-G-GC KEAP1 c.1571_1571dupG p.Y525Lfs*2 Frameshift 5/6 -
11-118307261-C-G KMT2A c.34C>G p.R12G Missense 1/36 -
9-8517962-T-A PTPRD c.1429A>T p.T477S Missense 21/46 -
X-47040801-G-T RBM10 c.1435+1G>T - IntronicSNV - 13/23
X-47039638-C-T RBM10 c.1090C>T p.Q364* Nonsense 11/24 -
17-8045175-G-T PER1 c.3548C>A p.A1183D Missense 22/23 -
2-42488301-G-A EML4 c.379G>A p.E127K Missense 4/23 -
12-6705221-C-T CHD4 c.1975G>A p.V659M Missense 13/40 -
5-170827852-G-T NPM1 c.592G>T p.D198Y Missense 8/11 -
7-41729603-C-T INHBA c.926G>A p.R309Q Missense 3/3 -
6-169629723-C-A THBS2 c.2203G>T p.G735W Missense 14/22 -
1-120480014-G-A NOTCH2 c.3413C>T p.P1138L Missense 21/34 -
12-46245849-G-C ARID2 c.3943G>C p.E1315Q Missense 15/21 -
8-139278044-C-T FAM135B c.199G>A p.V67M Missense 4/20 -
1-193111138-T-C CDC73 c.671T>C p.I224T Missense 7/17 -
7-66460388-G-A SBDS c.17C>T p.P6L Missense 1/5 -
1-76288153-G-A MSH4 c.1049G>A p.R350Q Missense 7/20 -
1-76365319-G-C MSH4 c.2547G>C p.E849D Missense 19/20 -
5-11082936-G-C CTNND2 c.2660C>G p.A887G Missense 16/22 -
22-29091722-C-T CHEK2 c.1235G>A p.S412N Missense 11/15 -
8-41791504-C-A KAT6A c.4234G>T p.E1412* Nonsense 17/17 -
15-88726665-G-T NTRK3 c.379C>A p.P127T Missense 5/20 -
4-187627830-G-T FAT1 c.3152C>A p.S1051* Nonsense 2/27 -
2-141272254-C-A LRP1B c.8237G>T p.G2746V Missense 51/91 -
7-142649673-C-A KEL c.1126G>T p.A376S Missense 10/19 -
16-2103365-A-G TSC2 c.248A>G p.K83R Missense 4/42 -
7-142640585-G-T KEL c.1691C>A p.P564H Missense 15/19 -
10-84745064-C-G NRG3 c.1794C>G p.I598M Missense 9/9 -
7-41729875-C-A INHBA c.654G>T p.W218C Missense 3/3 -
2-109365532-G-A RANBP2 c.1220G>A p.G407E Missense 9/29 -
15-99482568-G-T IGF1R c.3436G>T p.D1146Y Missense 18/21 -
5-112179728-A-G APC c.8437A>G p.T2813A Missense 16/16 -
13-28609743-C-A FLT3 c.1486G>T p.V496L Missense 12/24 -
17-7577521-TG-T TP53 c.759delC p.I254Sfs*91 Frameshift 7/11 -
9-35075597-C-T FANCG c.1298G>A p.R433Q Missense 10/14 -
16-23634440-C-T PALB2 c.2846G>A p.C949Y Missense 9/13 -
9-139417485-C-A NOTCH1 c.559G>T p.G187W Missense 4/34 -
2-141819745-G-A LRP1B c.1111C>T p.Q371* Nonsense 8/91 -
17-37673794-G-T CDK12 c.2948G>T p.R983L Missense 10/14 -
9-139413937-C-T NOTCH1 c.823G>A p.G275S Missense 5/34 -
7-151945021-C-T KMT2C c.2498G>A p.R833K Missense 14/59 -
3-142218534-G-A ATR c.5315C>T p.T1772M Missense 31/47 -
4-1374719-G-A UVSSA c.1804G>A p.D602N Missense 12/14 -
3-89521616-C-T EPHA3 c.2693C>T p.P898L Missense 16/17 -
X-63410555-C-T AMER1 c.2612G>A p.R871Q Missense 2/2 -
X-47030553-G-A RBM10 c.328G>A p.E110K Missense 4/24 -
16-23641163-C-T PALB2 c.2312G>A p.S771N Missense 5/13 -
19-10461554-C-T TYK2 c.3520G>A p.E1174K Missense 25/25 -
7-142640065-C-T KEL c.1838G>A p.R613H Missense 17/19 -
4-20512726-G-A SLIT2 c.1024G>A p.D342N Missense 11/37 -
4-20255548-G-T SLIT2 c.110G>T p.S37I Missense 1/37 -
12-56361648-G-A CDK2 c.124G>A p.E42K Missense 2/7 -
5-112174304-G-A APC c.3013G>A p.A1005T Missense 16/16 -
4-20535339-G-T SLIT2 c.1832+1G>T - IntronicSNV - 18/36
1-193181231-G-A CDC73 c.1066+1G>A - IntronicSNV - 12/16
17-29550586-G-T NF1 c.1845+1G>T - IntronicSNV - 16/57
X-153995337-G-A DKC1 c.513+1G>A - IntronicSNV - 6/14
15-91312816-GTGTAAGTT-G BLM c.2555_2555+7delTGTAAGTT - SpliceDonorDeletion 12/22 12/21
10-115608738-C-A DCLRE1A c.2125+1G>T - IntronicSNV - 2/8
2-141359013-TCTTA-T LRP1B c.6989+2_6989+5delTAAG - IntronicDeletion 42/91 42/90
X-47038564-T-C RBM10 c.724+2T>C - IntronicSNV - 8/23
19-10602662-C-T KEAP1 c.916G>A p.E306K Missense 3/6 -
13-25021149-TCTTACC-T PARP4 c.3285_3285+5delGGTAAG - SpliceDonorDeletion 26/34 26/33
12-65460420-C-T WIF1 c.730+1G>A - IntronicSNV - 6/9
16-2135005-AGCCAATCCTGCTGCCCAATGAGGTAGGCGTG-A TSC2 c.4551_4569+12del31 - SpliceDonorDeletion 35/42 35/41
X-47040801-G-A RBM10 c.1435+1G>A - IntronicSNV - 13/23
3-133368623-C-A TOPBP1 c.1253+1G>T - IntronicSNV - 9/27
22-30032840-TGGCCTGGCTCAAAATGGACAAGAA-T NF2 c.218_240+1del24 - SpliceDonorDeletion 2/16 2/15
17-30320353-G-A SUZ12 c.1293+1G>A - IntronicSNV - 11/15
17-57970687-G-C RPS6KB1 c.141+1G>C - IntronicSNV - 1/14
X-47041442-G-T RBM10 c.1785+1G>T - IntronicSNV - 16/23
X-76855200-C-T ATRX c.5786+1G>A - IntronicSNV - 24/34
X-70341288-G-C MED12 c.846+1G>C - IntronicSNV - 6/44
3-52702513-C-T PBRM1 c.384+1G>A - IntronicSNV - 4/29
2-225371574-C-T CUL3 c.1029+1G>A - IntronicSNV - 7/15
17-29554302-ACACTGAGGTATG-A NF1 c.2320_2325+6del12 - SpliceDonorDeletion 19/58 19/57
9-135776974-A-G TSC1 c.2502+2T>C - IntronicSNV - 19/22
13-48954214-ATTTTAGGTAAATTTTTTACTTTTAGTAAAAAAT-A RB1 c.1420_1421+31del33 - SpliceDonorDeletion 15/27 15/26
11-94212839-C-T MRE11 c.402+1G>A - IntronicSNV - 5/19
4-110880578-CGGAAGTACTGTGAAGGTAATGACT-C EGF c.1066+7_1066+30del24 - SpliceDonorDeletion - 6/23
14-50929382-C-A MAP4K5 c.936+1G>T - IntronicSNV - 13/32
3-10183644-C-G VHL c.113C>G p.S38C Missense 1/3 -
16-3779514-T-A CREBBP c.5534A>T p.N1845I Missense 31/31 -
9-407021-G-T DOCK8 c.3482G>T p.G1161V Missense 28/48 -
1-120459158-C-A NOTCH2 c.6187G>T p.D2063Y Missense 34/34 -
8-30938661-G-T WRN c.1118G>T p.G373V Missense 9/35 -
7-77885889-A-G MAGI2 c.1418T>C p.I473T Missense 10/22 -
16-23641061-A-T PALB2 c.2414T>A p.V805D Missense 5/13 -
8-37699436-G-A ADGRA2 c.3580G>A p.E1194K Missense 19/19 -
8-139149480-C-A FAM135B c.3925G>T p.V1309L Missense 19/20 -
5-176517475-G-T FGFR4 c.176G>T p.R59L Missense 3/18 -
13-28578228-C-A FLT3 c.2943G>T p.L981F Missense 24/24 -
12-121426800-C-T HNF1A c.491C>T p.T164I Missense 2/10 -
1-65301896-T-C JAK1 c.3143A>G p.Y1048C Missense 23/25 -
3-181430462-A-T SOX2 c.314A>T p.H105L Missense 1/1 -
9-27192496-A-T TEK c.1499A>T p.E500V Missense 11/23 -
1-158615154-C-G SPTA1 c.4018G>C p.A1340P Missense 29/52 -
1-27106807-C-A ARID1A c.6418C>A p.P2140T Missense 20/20 -
2-225422564-C-A CUL3 c.76G>T p.D26Y Missense 2/16 -
8-139163826-A-T FAM135B c.2892T>A p.D964E Missense 13/20 -
11-69457974-GCATCTACACCGACAACTC-G CCND1 c.379_396del18 p.Y127_I132del InFrameDeletion 2/5 -
2-141201898-C-G LRP1B c.10294+1G>C - IntronicSNV - 65/90
13-48947630-T-A RB1 c.1215+2T>A - IntronicSNV - 12/26
16-9857697-T-A GRIN2A c.3704A>T p.K1235M Missense 13/13 -
X-70342101-G-C MED12 c.1153G>C p.D385H Missense 8/45 -
3-130873910-C-G NEK11 c.907C>G p.L303V Missense 10/18 -
16-23646335-C-G PALB2 c.1532G>C p.R511T Missense 4/13 -
5-38991087-T-C RICTOR c.547A>G p.M183V Missense 7/38 -
1-179077208-G-C ABL2 c.3194C>G p.T1065S Missense 12/12 -
11-108201002-G-C ATM c.7369G>C p.E2457Q Missense 50/63 -
11-119155906-C-G CBL c.1571C>G p.S524C Missense 11/16 -
1-16475355-G-A EPHA2 c.341C>T p.S114F Missense 3/17 -
8-139163608-C-T FAM135B c.3110G>A p.C1037Y Missense 13/20 -
8-38271713-C-T FGFR1 c.2143G>A p.E715K Missense 16/18 -
5-176518781-C-G FGFR4 c.699C>G p.I233M Missense 6/18 -
13-29008044-A-T FLT1 c.725T>A p.L242* Nonsense 6/30 -
5-180056313-T-A FLT4 c.931A>T p.K311* Nonsense 7/30 -
X-48651646-G-A GATA1 c.812G>A p.R271K Missense 5/6 -
12-57858996-G-A GLI1 c.492G>A p.M164I Missense 5/12 -
7-42006199-C-T GLI3 c.2472G>A p.M824I Missense 15/15 -
7-86469220-G-C GRM3 c.2390G>C p.R797T Missense 4/6 -
11-118352586-G-T KMT2A c.3791G>T p.R1264L Missense 7/36 -
12-49418652-G-C KMT2D c.15862C>G p.L5288V Missense 50/55 -
2-141215164-A-T LRP1B c.9682T>A p.Y3228N Missense 61/91 -
2-141004663-A-C LRP1B c.13316T>G p.I4439S Missense 87/91 -
17-29664894-C-G NF1 c.6700C>G p.Q2234E Missense 44/58 -
1-120478115-G-C NOTCH2 c.3635C>G p.S1212C Missense 22/34 -
16-23635385-C-G PALB2 c.2779G>C p.D927H Missense 8/13 -
19-18278007-G-A PIK3R2 c.1627G>A p.E543K Missense 13/16 -
19-50918095-C-G POLD1 c.2412C>G p.I804M Missense 20/27 -
10-43597964-G-T RET c.512G>T p.R171M Missense 3/20 -
8-92988149-C-G RUNX1T1 c.1221G>C p.E407D Missense 9/11 -
4-20521012-T-C SLIT2 c.1066T>C p.Y356H Missense 12/37 -
3-181430758-G-T SOX2 c.610G>T p.A204S Missense 1/1 -
9-27203108-G-A TEK c.2200G>A p.E734K Missense 13/23 -
9-27203106-C-A TEK c.2198C>A p.P733Q Missense 13/23 -
11-118365431-G-T KMT2A c.5312G>T p.W1771L Missense 18/36 -
1-16460408-C-T EPHA2 c.1685G>A p.R562K Missense 9/17 -
10-43623566-C-G RET c.3194C>G p.S1065* Nonsense 20/20 -
7-55231465-G-T EGFR c.1671G>T p.Q557H Missense 14/28 -
1-11298512-T-A MTOR c.1949A>T p.Q650L Missense 12/58 -
7-42005915-A-G GLI3 c.2756T>C p.L919P Missense 15/15 -
7-41730089-A-T INHBA c.440T>A p.L147Q Missense 3/3 -
19-19256787-G-A MEF2B c.926C>T p.A309V Missense 9/9 -
9-36923357-A-G PAX5 c.905T>C p.V302A Missense 7/10 -
3-47125469-G-A SETD2 c.5801C>T p.P1934L Missense 12/21 -
1-158581135-C-A SPTA1 c.7179G>T p.Q2393H Missense 52/52 -
3-41266483-G-C CTNNB1 c.280G>C p.V94L Missense 4/15 -
3-134670574-T-A EPHB1 c.485T>A p.V162D Missense 3/16 -
15-91295155-C-T BLM c.938C>T p.S313F Missense 4/22 -
16-23649258-C-G PALB2 c.124G>C p.E42Q Missense 3/13 -
5-131924570-A-T RAD50 c.1243A>T p.M415L Missense 8/25 -
16-68857456-G-T CDH1 c.2091G>T p.K697N Missense 13/16 -
14-95590996-C-A DICER1 c.913G>T p.D305Y Missense 8/27 -
12-56487641-G-A ERBB3 c.1574G>A p.R525Q Missense 13/28 -
12-49420901-G-C KMT2D c.14848C>G p.L4950V Missense 49/55 -
2-141607817-G-T LRP1B c.4793C>A p.T1598K Missense 29/91 -
4-110890251-G-A EGF c.1700G>A p.R567H Missense 11/24 -
X-70595083-C-A TAF1 c.479C>A p.P140H Missense 4/38 -
8-139278053-C-A FAM135B c.190G>T p.D64Y Missense 4/20 -
4-187557992-T-A FAT1 c.3719A>T p.D1240V Missense 5/27 -
9-137313610-C-G RXRA c.869C>G p.S290* Nonsense 6/10 -
3-47098571-C-T SETD2 c.6703G>A p.V2235I Missense 15/21 -
4-55146576-G-T PDGFRA c.2250G>T p.E750D Missense 16/23 -
2-212543803-G-T ERBB4 c.1596C>A p.C532* Nonsense 13/28 -
11-22646285-C-G FANCF c.1072G>C p.A358P Missense 1/1 -
3-119642260-T-C GSK3B c.437A>G p.Y146C Missense 4/11 -
3-138433450-C-T PIK3CB c.1162G>A p.D388N Missense 9/24 -
14-95562981-TCTC-T DICER1 c.4273_4275delGAG p.E1425del InFrameDeletion 23/27 -
1-11259340-G-A MTOR c.4228C>T p.P1410S Missense 28/58 -
5-180048693-G-T FLT4 c.1869C>A p.S623R Missense 13/30 -
3-38180282-C-A MYD88 c.130C>A p.R31S Missense 1/5 -
2-178095740-G-C NFE2L2 c.1591C>G p.H531D Missense 5/5 -
6-394947-C-A IRF4 c.343C>A p.Q115K Missense 3/9 -
14-81534626-C-A TSHR c.271C>A p.Q91K Missense 3/10 -
20-52192785-C-G ZNF217 c.2518G>C p.E840Q Missense 4/6 -
2-141747224-T-C LRP1B c.2647A>G p.N883D Missense 17/91 -
16-3788626-C-A CREBBP c.4328G>T p.R1443L Missense 26/31 -
5-180049806-C-T FLT4 c.1582G>A p.V528M Missense 12/30 -
18-19751428-G-C GATA6 c.323G>C p.S108T Missense 2/7 -
12-57552421-G-C LRP1 c.1798G>C p.G600R Missense 11/89 -
2-141081546-C-A LRP1B c.12430G>T p.G4144C Missense 81/91 -
1-43783709-C-A TIE1 c.2888C>A p.A963E Missense 17/23 -
11-108141854-G-A ATM c.2902G>A p.E968K Missense 19/63 -
7-55231447-G-C EGFR c.1653G>C p.E551D Missense 14/28 -
7-78130922-T-C MAGI2 c.937A>G p.T313A Missense 5/22 -
21-36259273-C-A RUNX1 c.218G>T p.S73I Missense 4/9 -
9-5126781-T-C JAK2 c.3389T>C p.M1130T Missense 25/25 -
1-150551958-C-T MCL1 c.49G>A p.G17R Missense 1/3 -
1-16259987-G-C SPEN c.7252G>C p.E2418Q Missense 11/15 -
16-23635399-A-G PALB2 c.2765T>C p.I922T Missense 8/13 -
18-19757040-G-A GATA6 c.1260G>A p.M420I Missense 3/7 -
12-57577255-C-G LRP1 c.5756C>G p.S1919C Missense 35/89 -
12-57577234-C-G LRP1 c.5735C>G p.S1912* Nonsense 35/89 -
12-69968308-A-T FRS2 c.1100A>T p.D367V Missense 9/9 -
5-156665188-A-G ITK c.838A>G p.K280E Missense 9/17 -
7-55249013-A-ACCCCCC EGFR c.2311_2312insCCCCCC p.N771delinsTPH MultiAAMissense 20/28 -
12-49444744-G-A KMT2D c.2722C>T p.L908= Synonymous 11/55 -
9-27197504-C-T TEK c.1816C>T p.H606Y Missense 12/23 -
2-212530104-G-C ERBB4 c.1815C>G p.F605L Missense 15/28 -
16-56868064-C-G NUP93 c.1562C>G p.P521R Missense 14/22 -
9-2076289-A-G SMARCA2 c.1996A>G p.S666G Missense 13/34 -
3-37081704-C-G MLH1 c.1586C>G p.S529C Missense 14/19 -
5-131927058-C-T RAD50 c.1595C>T p.T532I Missense 10/25 -
12-12870996-G-T CDKN1B c.223G>T p.E75* Nonsense 1/3 -
2-25469955-G-C DNMT3A c.1087C>G p.P363A Missense 9/23 -
10-43606839-A-T RET c.1448A>T p.Y483F Missense 7/20 -
1-162740185-A-G DDR2 c.1387A>G p.S463G Missense 12/18 -
13-28903793-A-T FLT1 c.2666T>A p.L889Q Missense 19/30 -
12-57596983-G-C LRP1 c.10731G>C p.E3577D Missense 69/89 -
4-20570534-G-C SLIT2 c.2995G>C p.V999L Missense 29/37 -
11-108204648-A-G ATM c.7963A>G p.K2655E Missense 54/63 -
5-233598-A-G SDHA c.902A>G p.Y301C Missense 8/15 -
4-55156574-C-A PDGFRA c.2975C>A p.T992N Missense 22/23 -
16-2098729-T-A TSC2 c.113T>A p.F38Y Missense 2/42 -
16-89809255-C-T FANCA c.3718G>A p.E1240K Missense 37/43 -
9-5090457-C-A JAK2 c.2773C>A p.L925I Missense 21/25 -
16-23640589-G-A PALB2 c.2522C>T p.T841I Missense 6/13 -
2-60689249-A-T BCL11A c.798T>A p.F266L Missense 4/4 -
4-187549770-A-C FAT1 c.4471T>G p.Y1491D Missense 8/27 -
10-96612594-G-T CYP2C19 c.1396G>T p.D466Y Missense 9/9 -
12-21626571-C-T RECQL c.1361G>A p.R454H Missense 12/15 -
17-57119180-G-A TRIM37 c.1747C>T p.P583S Missense 17/24 -
4-1343490-A-G UVSSA c.277A>G p.T93A Missense 3/14 -
19-44050108-C-T XRCC1 c.1483G>A p.V495M Missense 14/17 -
1-85733312-A-C BCL10 c.700T>G p.*234Gext*6 Missense 3/3 -
3-105470341-C-A CBLB c.688G>T p.V230F Missense 5/19 -
3-41278175-G-A CTNNB1 c.2051G>A p.R684K Missense 13/15 -
16-72992645-T-G ZFHX3 c.1400A>C p.E467A Missense 2/10 -
16-23646693-C-G PALB2 c.1174G>C p.E392Q Missense 4/13 -
19-44047589-C-A XRCC1 c.1857G>T p.Q619H Missense 17/17 -
16-23641545-C-G PALB2 c.1930G>C p.G644R Missense 5/13 -
17-29654589-G-T NF1 c.5341G>T p.D1781Y Missense 38/58 -
13-28896483-G-C FLT1 c.2967C>G p.F989L Missense 22/30 -
6-135521460-G-T MYB c.1857G>T p.L619= Synonymous 13/16 -
1-115258771-T-A NRAS c.11A>T p.Y4F Missense 2/7 -
2-223085013-T-C PAX3 c.1019A>G p.H340R Missense 7/9 -
2-239159220-C-T PER2 c.3439G>A p.V1147I Missense 21/23 -
9-98231270-G-C PTCH1 c.2013C>G p.H671Q Missense 14/24 -
17-70120511-C-G SOX9 c.1513C>G p.Q505E Missense 3/3 -
16-23649410-T-C PALB2 c.89A>G p.K30R Missense 2/13 -
10-98064322-T-C DNTT c.68T>C p.M23T Missense 1/11 -
14-62187147-C-T HIF1A c.83C>T p.S28F Missense 2/15 -
4-178256920-G-C NEIL3 c.357G>C p.L119F Missense 3/10 -
11-85723393-A-C PICALM c.589T>G p.F197V Missense 6/20 -
3-48455369-C-A PLXNB1 c.4321G>T p.V1441L Missense 22/38 -
3-121206455-C-A POLQ c.5323G>T p.G1775C Missense 16/30 -
8-69021748-G-T PREX2 c.3036G>T p.R1012S Missense 25/40 -
12-21636506-C-A RECQL c.504G>T p.E168D Missense 6/15 -
17-78318983-G-T RNF213 c.6848G>T p.G2283V Missense 29/68 -
18-61326686-C-A SERPINB3 c.298G>T p.E100* Nonsense 4/8 -
3-47161841-C-T SETD2 c.4285G>A p.V1429M Missense 3/21 -
6-146256427-T-A SHPRH c.2720A>T p.D907V Missense 12/30 -
1-158590061-C-T SPTA1 c.6316G>A p.D2106N Missense 44/52 -
20-36012789-G-T SRC c.233G>T p.R78M Missense 4/14 -
3-176752032-T-A TBL1XR1 c.1204A>T p.T402S Missense 13/16 -
14-90432534-G-A TDP1 c.603G>A p.Q201= Synonymous 4/17 -
3-10183715-G-T VHL c.184G>T p.V62L Missense 1/3 -
2-61719795-C-A XPO1 c.1473G>T p.W491C Missense 14/25 -
2-47612314-A-G EPCAM c.868A>G p.R290G Missense 8/9 -
19-50902309-C-T POLD1 c.201C>T p.D67= Synonymous 2/27 -
19-50905291-G-A POLD1 c.499G>A p.E167K Missense 5/27 -
22-29130579-C-G CHEK2 c.131G>C p.S44T Missense 2/15 -
19-10602602-G-A KEAP1 c.976C>T p.R326C Missense 3/6 -
5-80063866-G-A MSH3 c.2011G>A p.V671I Missense 14/24 -
X-47044716-A-T RBM10 c.2116A>T p.R706* Nonsense 19/24 -
17-12032464-GG-TA MAP2K4 c.900_901delinsTA p.L300_A301delinsFT MultiAAMissense 9/11 -
4-143352337-C-A INPP4B c.76G>T p.D26Y Missense 4/26 -
X-47044889-G-T RBM10 c.2215G>T p.E739* Nonsense 20/24 -
16-23647368-C-T PALB2 c.499G>A p.D167N Missense 4/13 -
1-27057688-G-T ARID1A c.1396G>T p.G466C Missense 3/20 -
X-152815159-G-T ATP2B3 c.1543G>T p.A515S Missense 9/20 -
19-4409044-C-T CHAF1A c.248C>T p.S83F Missense 3/15 -
5-10988246-G-T CTNND2 c.3320C>A p.T1107N Missense 20/22 -
5-11565087-C-A CTNND2 c.256G>T p.G86* Nonsense 3/22 -
3-142274845-C-A ATR c.2215G>T p.D739Y Missense 10/47 -
X-37027291-C-A FAM47C c.808C>A p.L270I Missense 1/1 -
10-123276902-C-A FGFR2 c.1015G>T p.E339* Nonsense 8/18 -
1-155205080-G-A GBA c.1411C>T p.Q471* Nonsense 10/11 -
16-9858201-C-A GRIN2A c.3200G>T p.R1067L Missense 13/13 -
2-187487140-A-T ITGAV c.391A>T p.K131* Nonsense 3/30 -
X-53223743-G-T KDM5C c.3616C>A p.Q1206K Missense 23/26 -
2-141607744-C-A LRP1B c.4866G>T p.W1622C Missense 29/91 -
1-76349448-G-T MSH4 c.2049G>T p.M683I Missense 15/20 -
6-135516931-A-G MYB c.994A>G p.I332V Missense 9/16 -
5-80040413-C-T MSH3 c.1742C>T p.T581I Missense 12/24 -
16-23641722-C-T PALB2 c.1753G>A p.D585N Missense 5/13 -
1-243668594-G-T AKT3 c.1397C>A p.P466Q Missense 14/14 -
1-27105859-G-T ARID1A c.5470G>T p.V1824L Missense 20/20 -
1-116943540-G-T ATP1A1 c.2630G>T p.G877V Missense 19/23 -
X-76939462-G-T ATRX c.1286C>A p.T429N Missense 9/35 -
1-162729646-G-T DDR2 c.732G>T p.Q244H Missense 8/18 -
3-10136932-C-T FANCD2 c.4012C>T p.L1338F Missense 41/44 -
7-81359082-C-A HGF c.879G>T p.M293I Missense 8/18 -
5-35874551-G-T IL7R c.707G>T p.G236V Missense 6/8 -
4-55964334-A-G KDR c.2479T>C p.W827R Missense 17/30 -
7-151900059-C-T KMT2C c.4052G>A p.R1351K Missense 26/59 -
6-32188298-C-T NOTCH4 c.1043G>A p.G348D Missense 6/30 -
4-55127446-C-A PDGFRA c.234C>A p.S78R Missense 3/23 -
8-68984790-C-A PREX2 c.1554C>A p.D518E Missense 14/40 -
8-68989697-G-T PREX2 c.1635G>T p.M545I Missense 15/40 -
9-98238347-G-C PTCH1 c.1697C>G p.P566R Missense 12/24 -
22-22221708-C-A MAPK1 c.23G>T p.G8V Missense 1/9 -
X-70510493-G-T NONO c.6G>T p.Q2H Missense 3/12 -
3-121203987-T-C POLQ c.5674A>G p.I1892V Missense 17/30 -
2-55792038-C-A PPP4R3B c.2075G>T p.S692I Missense 14/17 -
5-23522906-C-A PRDM9 c.794C>A p.S265Y Missense 8/11 -
11-108122584-C-T ATM c.1628C>T p.T543I Missense 11/63 -
5-112177947-C-T APC c.6656C>T p.A2219V Missense 16/16 -
11-85988077-A-G EED c.1022A>G p.D341G Missense 10/12 -
8-139165221-C-G FAM135B c.1497G>C p.Q499H Missense 13/20 -
7-75172208-G-C HIP1 c.2852C>G p.A951G Missense 28/31 -
4-87655550-T-TTTG PTPN13 c.1953_1954insTTG p.T651_V652insL InFrameInsertion 13/48 -
X-48896827-CC-GA TFE3 c.338_339delGGinsTC p.R113I Missense 3/10 -
2-215645880-C-G BARD1 c.718G>C p.V240L Missense 4/11 -
2-215645880-C-A BARD1 c.718G>T p.V240L Missense 4/11 -
4-178274643-G-T NEIL3 c.1221G>T p.K407N Missense 8/10 -
11-102207667-G-C BIRC3 c.1649G>C p.R550T Missense 9/9 -
13-73355086-A-G DIS3 c.284T>C p.L95P Missense 2/21 -
2-30143196-C-A ALK c.330G>T p.W110C Missense 1/29 -
4-55972001-G-T KDR c.1643C>A p.T548N Missense 12/30 -
X-47044743-A-T RBM10 c.2143A>T p.K715* Nonsense 19/24 -
X-96139694-G-A RPA4 c.385G>A p.G129S Missense 1/1 -
1-16256919-C-T SPEN c.4184C>T p.A1395V Missense 11/15 -
12-115112459-C-A TBX3 c.1221G>T p.R407= Synonymous 6/7 -
14-90499554-T-A TDP1 c.1749T>A p.S583R Missense 16/17 -
5-1294228-T-G TERT c.773A>C p.H258P Missense 2/16 -
4-55565909-A-G KIT c.733A>G p.T245A Missense 4/21 -
6-93964474-A-G EPHA7 c.2423T>C p.I808T Missense 14/17 -
1-32741560-A-T LCK c.527A>T p.E176V Missense 7/13 -
4-178274830-G-C NEIL3 c.1408G>C p.A470P Missense 8/10 -
1-76349438-G-T MSH4 c.2039G>T p.G680V Missense 15/20 -
17-29676146-C-G NF1 c.7198C>G p.H2400D Missense 49/58 -
1-158651413-C-A SPTA1 c.435G>T p.E145D Missense 4/52 -
17-38555158-T-C TOP2A c.3320A>G p.D1107G Missense 26/35 -
1-32742086-G-T LCK c.780G>T p.W260C Missense 8/13 -
1-158607971-C-G SPTA1 c.5041G>C p.V1681L Missense 36/52 -
2-128030487-T-A ERCC3 c.1781A>T p.Q594L Missense 11/15 -
2-141473597-T-C LRP1B c.5968A>G p.I1990V Missense 37/91 -
1-11301728-C-T MTOR c.1423G>A p.A475T Missense 10/58 -
5-131915116-A-T RAD50 c.473A>T p.H158L Missense 4/25 -
21-44513322-G-A U2AF1 c.613C>T p.R205W Missense 8/8 -
5-82500667-C-G XRCC4 c.672C>G p.D224E Missense 6/8 -
19-7688747-CGCAGCTCCAGGT-AGCAGGG XAB2 c.977_989delinsCCCTGCT p.D326_R330delinsALL MultiAAMissense 8/19 -
6-32166207-G-A NOTCH4 c.4747C>T p.R1583C Missense 26/30 -
14-20923808-C-G APEX1 c.4C>G p.P2A Missense 2/5 -
11-108173733-C-G ATM c.5473C>G p.Q1825E Missense 36/63 -
8-109229637-T-C EIF3E c.775A>G p.T259A Missense 8/13 -
8-139165274-G-C FAM135B c.1444C>G p.P482A Missense 13/20 -
X-37028885-T-A FAM47C c.2402T>A p.L801Q Missense 1/1 -
14-45636238-G-C FANCM c.1874G>C p.S625T Missense 11/23 -
3-138664706-G-C FOXL2 c.859C>G p.P287A Missense 1/1 -
10-84738732-G-A NRG3 c.1439G>A p.G480E Missense 8/9 -
16-23647491-C-G PALB2 c.376G>C p.E126Q Missense 4/13 -
13-67802561-C-G PCDH9 c.12G>C p.R4S Missense 2/5 -
15-89876469-C-A POLG c.517G>T p.E173* Nonsense 2/23 -
12-111856220-G-T SH2B3 c.271G>T p.D91Y Missense 2/8 -
7-152008996-A-T KMT2C c.626T>A p.V209E Missense 5/59 -
16-89846317-C-T FANCA c.1675G>A p.E559K Missense 18/43 -
16-23641789-C-T PALB2 c.1686G>A p.G562= Synonymous 5/13 -
2-169851960-C-A ABCB11 c.510G>T p.Q170H Missense 7/28 -
17-59871069-T-A BRIP1 c.1362A>T p.E454D Missense 10/20 -
X-100630272-T-C BTK c.1A>G p.M1? Missense 2/19 -
10-64968473-T-A JMJD1C c.2956A>T p.T986S Missense 10/26 -
2-141598646-C-A LRP1B c.4955G>T p.R1652I Missense 30/91 -
19-15308384-G-A NOTCH3 c.124C>T p.P42S Missense 2/33 -
12-133225532-C-A POLE c.4132G>T p.G1378C Missense 32/49 -
18-51820622-A-G POLI c.2008A>G p.R670G Missense 10/10 -
7-95813730-C-A SLC25A13 c.1036G>T p.V346L Missense 11/18 -
14-32563279-A-G ARHGAP5 c.3404A>G p.N1135S Missense 2/7 -
X-76940459-C-T ATRX c.634G>A p.D212N Missense 8/35 -
16-11001813-T-C CIITA c.2464T>C p.W822R Missense 11/20 -
4-84384670-C-G ABRAXAS1 c.773G>C p.R258T Missense 8/9 -
14-45658188-C-A FANCM c.4963C>A p.Q1655K Missense 20/23 -
7-95761142-G-A SLC25A13 c.1504C>T p.P502S Missense 15/18 -
1-158596643-A-G SPTA1 c.5819T>C p.V1940A Missense 41/52 -
12-115118776-C-A TBX3 c.565G>T p.D189Y Missense 2/7 -
11-61076455-C-A DDB1 c.2661G>T p.T887= Synonymous 21/27 -
15-99500456-C-T IGF1R c.3889C>T p.P1297S Missense 21/21 -
2-141597597-A-C LRP1B c.5172T>G p.N1724K Missense 31/91 -
17-29528490-G-C NF1 c.1247G>C p.R416P Missense 11/58 -
15-99451961-G-T IGF1R c.1295G>T p.W432L Missense 6/21 -
5-23524494-G-T PRDM9 c.1002G>T p.Q334H Missense 10/11 -
X-47041711-A-T RBM10 c.1936A>T p.K646* Nonsense 17/24 -
14-99640606-C-A BCL11B c.2567G>T p.C856F Missense 4/4 -
7-148481136-T-G CUL1 c.1265T>G p.L422R Missense 11/22 -
11-77047325-C-T PAK1 c.1219G>A p.D407N Missense 13/15 -
X-47039327-T-C RBM10 c.950T>C p.L317P Missense 10/24 -
4-39322960-G-A RFC1 c.755C>T p.S252L Missense 8/25 -
17-41245417-TAGTAAA-T BRCA1 c.2125_2130delTTTACT p.F709_T710del InFrameDeletion 10/23 -
2-29551335-C-A ALK c.1295G>T p.G432V Missense 6/29 -
5-180043414-G-T FLT4 c.3172C>A p.L1058I Missense 23/30 -
10-43607571-C-A RET c.1547C>A p.P516H Missense 8/20 -
1-16255142-G-T SPEN c.2407G>T p.E803* Nonsense 11/15 -
X-123184155-A-T STAG2 c.1013A>T p.D338V Missense 11/35 -
10-104377105-A-G SUFU c.1216A>G p.I406V Missense 10/12 -
8-139164264-G-T FAM135B c.2454C>A p.D818E Missense 13/20 -
8-139165082-C-G FAM135B c.1636G>C p.G546R Missense 13/20 -
14-45620625-T-A FANCM c.944T>A p.L315* Nonsense 5/23 -
19-41758341-G-T AXL c.1797G>T p.R599S Missense 15/20 -
4-25678024-C-T SLC34A2 c.1726C>T p.Q576* Nonsense 13/13 -
16-72992745-T-C ZFHX3 c.1300A>G p.K434E Missense 2/10 -
7-142460284-G-A PRSS1 c.457G>A p.D153N Missense 4/5 -
17-62499074-T-A DDX5 c.953A>T p.D318V Missense 8/13 -
4-55971128-G-A KDR c.1669C>T p.P557S Missense 13/30 -
10-70405432-C-G TET1 c.2946C>G p.I982M Missense 4/12 -
5-112176494-G-A APC c.5203G>A p.G1735R Missense 16/16 -
14-95556842-T-C DICER1 c.5762A>G p.N1921S Missense 27/27 -
6-106553651-C-G PRDM1 c.1616C>G p.A539G Missense 5/7 -
16-9858252-C-G GRIN2A c.3149G>C p.R1050T Missense 13/13 -
2-141200100-C-A LRP1B c.10387G>T p.A3463S Missense 66/91 -
16-23614886-G-A PALB2 c.3455C>T p.P1152L Missense 13/13 -
8-68942798-A-G PREX2 c.610A>G p.M204V Missense 6/40 -
11-119155697-C-A CBL c.1450C>A p.P484T Missense 10/16 -
16-10995408-G-A CIITA c.474G>A p.W158* Nonsense 6/20 -
3-48627760-C-G COL7A1 c.1936G>C p.D646H Missense 16/119 -
7-42063198-C-T GLI3 c.1366G>A p.E456K Missense 10/15 -
6-114270411-C-T HDAC2 c.653G>A p.G218E Missense 7/14 -
19-17949101-G-T JAK3 c.1540C>A p.H514N Missense 11/24 -
17-29685640-A-T NF1 c.8113A>T p.S2705C Missense 55/58 -
16-23634345-T-A PALB2 c.2941A>T p.S981C Missense 9/13 -
9-116172360-C-A POLE3 c.127G>T p.V43F Missense 3/5 -
18-20562317-C-A RBBP8 c.565C>A p.Q189K Missense 7/19 -
1-158623130-A-T SPTA1 c.3122T>A p.M1041K Missense 22/52 -
13-26959424-C-G CDK8 c.591C>G p.F197L Missense 6/13 -
4-54915422-C-G CHIC2 c.170G>C p.G57A Missense 2/6 -
12-56488302-G-C ERBB3 c.1821G>C p.Q607H Missense 15/28 -
5-60240772-C-T ERCC8 c.64G>A p.E22K Missense 1/12 -
9-35078326-C-G FANCG c.322G>C p.E108Q Missense 4/14 -
X-132887628-C-G GPC3 c.913G>C p.E305Q Missense 3/8 -
12-124137084-C-G GTF2H3 c.433C>G p.H145D Missense 6/13 -
5-55253113-G-C IL6ST c.980C>G p.S327C Missense 9/17 -
19-48624445-C-A LIG1 c.2367G>T p.E789D Missense 24/28 -
12-124824684-G-T NCOR2 c.5555C>A p.S1852Y Missense 39/49 -
6-32163506-C-A NOTCH4 c.5720G>T p.G1907V Missense 30/30 -
19-52693350-A-T PPP2R1A c.1A>T p.M1? Missense 1/15 -
2-109392288-C-T RANBP2 c.8393C>T p.S2798F Missense 24/29 -
11-32456858-G-A WT1 c.34C>T p.P17S Missense 1/10 -
16-23647461-T-C PALB2 c.406A>G p.S136G Missense 4/13 -
2-141259398-C-G LRP1B c.8708G>C p.C2903S Missense 55/91 -
2-141079618-C-A LRP1B c.12554G>T p.C4185F Missense 82/91 -
1-76378474-G-T MSH4 c.2713G>T p.D905Y Missense 20/20 -
3-126724057-G-T PLXNA1 c.1868G>T p.R623L Missense 7/32 -
20-43959190-G-C SDC4 c.261C>G p.N87K Missense 4/5 -
4-106157591-A-T TET2 c.2492A>T p.Q831L Missense 3/11 -
11-32417835-G-A WT1 c.1217C>T p.S411F Missense 7/10 -
6-41904424-A-C CCND3 c.584T>G p.F195C Missense 4/5 -
22-19171040-C-A CLTCL1 c.4690G>T p.E1564* Nonsense 30/33 -
11-107966331-G-C CUL5 c.1818G>C p.W606C Missense 16/19 -
8-139164295-G-A FAM135B c.2423C>T p.S808F Missense 13/20 -
10-70442684-C-T TET1 c.5006C>T p.A1669V Missense 10/12 -
16-72828396-G-A ZFHX3 c.8185C>T p.H2729Y Missense 9/10 -
1-76282183-C-T MSH4 c.941C>T p.S314L Missense 6/20 -
1-35656533-G-C SFPQ c.1081C>G p.Q361E Missense 3/10 -
16-23619315-G-C PALB2 c.3220C>G p.L1074V Missense 12/13 -
8-41582045-C-T ANK1 c.640G>A p.A214T Missense 7/43 -
16-88947829-C-G CBFA2T3 c.1272G>C p.Q424H Missense 9/12 -
7-137567224-G-A CREB3L2 c.1421C>T p.P474L Missense 11/12 -
13-29068967-C-A FLT1 c.14G>T p.W5L Missense 1/30 -
3-138664991-G-T FOXL2 c.574C>A p.P192T Missense 1/1 -
7-42063147-C-T GLI3 c.1417G>A p.E473K Missense 10/15 -
9-80336358-C-T GNAQ c.961G>A p.D321N Missense 7/7 -
12-49425055-C-A KMT2D c.13433G>T p.R4478L Missense 40/55 -
1-150551376-C-G MCL1 c.631G>C p.E211Q Missense 1/3 -
11-85685842-C-T PICALM c.1853G>A p.G618E Missense 19/20 -
2-190728875-G-A PMS1 c.2263G>A p.A755T Missense 10/13 -
7-44116143-T-C POLM c.800A>G p.E267G Missense 6/11 -
5-23509593-C-A PRDM9 c.84C>A p.F28L Missense 3/11 -
11-60671286-G-A PRPF19 c.67C>T p.H23Y Missense 2/16 -
3-51697428-G-T RAD54L2 c.4396G>T p.G1466W Missense 23/23 -
3-51696873-G-T RAD54L2 c.3841G>T p.V1281L Missense 23/23 -
2-152314405-G-A RIF1 c.2783G>A p.R928Q Missense 24/36 -
X-96139944-G-T RPA4 c.635G>T p.C212F Missense 1/1 -
9-101894832-G-A TGFBR1 c.385G>A p.V129I Missense 3/9 -
9-135771852-C-A TSC1 c.3265G>T p.G1089C Missense 23/23 -
14-81610029-G-T TSHR c.1627G>T p.V543F Missense 10/10 -
3-10191612-C-T VHL c.605C>T p.T202I Missense 3/3 -
17-30264275-C-G SUZ12 c.10C>G p.Q4E Missense 1/16 -
12-124848314-G-C NCOR2 c.2839C>G p.P947A Missense 23/49 -
16-23646944-G-C PALB2 c.923C>G p.A308G Missense 4/13 -
16-23646924-G-T PALB2 c.943C>A p.L315M Missense 4/13 -
10-123298157-C-A FGFR2 c.697G>T p.V233L Missense 6/18 -
X-70344971-A-G MED12 c.2201A>G p.Y734C Missense 15/45 -
10-104375054-G-C SUFU c.1052G>C p.S351T Missense 9/12 -
4-106196694-A-T TET2 c.5027A>T p.H1676L Missense 11/11 -
3-142232423-C-T ATR c.4561G>A p.D1521N Missense 26/47 -
5-176524336-A-T FGFR4 c.2197A>T p.R733W Missense 17/18 -
17-17118305-C-T FLCN c.1532G>A p.W511* Nonsense 13/14 -
4-55971119-G-A KDR c.1678C>T p.Q560* Nonsense 13/30 -
9-20620794-G-T MLLT3 c.52C>A p.Q18K Missense 2/11 -
17-63534442-T-A AXIN2 c.1079A>T p.K360M Missense 5/11 -
16-23641257-G-C PALB2 c.2218C>G p.Q740E Missense 5/13 -
17-59761036-T-A BRIP1 c.3371A>T p.E1124V Missense 20/20 -
5-24535329-C-A CDH10 c.706G>T p.V236F Missense 5/12 -
11-118635946-C-G DDX6 c.617G>C p.R206P Missense 6/14 -
8-139149413-G-T FAM135B c.3992C>A p.T1331N Missense 19/20 -
3-59999857-C-A FHIT c.125G>T p.R42L Missense 6/10 -
4-25674865-CCAT-C SLC34A2 c.1208_1210delTCA p.I403del InFrameDeletion 10/13 -
2-212537966-C-T ERBB4 c.1639G>A p.E547K Missense 14/28 -
X-47040995-C-T RBM10 c.1525C>T p.Q509* Nonsense 14/24 -
4-55953780-C-A KDR c.3656G>T p.G1219V Missense 27/30 -
1-45798289-C-A MUTYH c.563G>T p.G188V Missense 8/16 -
13-25074506-C-A PARP4 c.349G>T p.G117C Missense 4/34 -
6-106553256-C-A PRDM1 c.1221C>A p.N407K Missense 5/7 -
1-3328945-G-T PRDM16 c.2184G>T p.Q728H Missense 9/17 -
7-73661028-C-A RFC2 c.398G>T p.G133V Missense 5/11 -
6-169632151-C-G THBS2 c.2075G>C p.G692A Missense 13/22 -
2-237489846-G-C ACKR3 c.738G>C p.E246D Missense 2/2 -
20-54945670-C-T AURKA c.900G>A p.M300I Missense 8/9 -
11-125513755-C-G CHEK1 c.883C>G p.Q295E Missense 9/13 -
5-11411747-C-G CTNND2 c.340G>C p.E114Q Missense 5/22 -
22-41572937-C-G EP300 c.5222C>G p.S1741C Missense 31/31 -
22-41573386-C-G EP300 c.5671C>G p.Q1891E Missense 31/31 -
1-8073324-C-T ERRFI1 c.1335G>A p.M445I Missense 4/4 -
9-5050746-G-C JAK2 c.529G>C p.E177Q Missense 6/25 -
7-151876929-G-C KMT2C c.7432C>G p.H2478D Missense 37/59 -
15-40916600-G-A KNL1 c.4138G>A p.D1380N Missense 10/26 -
1-120462938-T-C NOTCH2 c.5393A>G p.D1798G Missense 30/34 -
4-1955231-C-G NSD2 c.2318C>G p.S773* Nonsense 12/22 -
16-56855431-G-A NUP93 c.580G>A p.E194K Missense 7/22 -
10-103344568-C-T POLL c.682G>A p.E228K Missense 5/9 -
10-72360573-G-T PRF1 c.86C>A p.S29* Nonsense 2/3 -
2-109365525-G-A RANBP2 c.1213G>A p.D405N Missense 9/29 -
7-73649939-C-T RFC2 c.877G>A p.E293K Missense 10/11 -
18-42281527-C-A SETBP1 c.216C>A p.N72K Missense 2/6 -
1-62916299-C-T USP1 c.2005C>T p.L669F Missense 9/9 -
17-80789435-G-T ZNF750 c.896C>A p.P299Q Missense 2/3 -
1-27106858-G-T ARID1A c.6469G>T p.D2157Y Missense 20/20 -
3-8983296-A-T RAD18 c.459T>A p.N153K Missense 5/13 -
3-133320121-A-T TOPBP1 c.4542T>A p.N1514K Missense 28/28 -
4-1346866-T-C UVSSA c.599T>C p.F200S Missense 5/14 -
7-26236993-GCAGCCATGGCAGCATCAACCT-G HNRNPA2B1 c.185_205del21 p.E62_A68del InFrameDeletion 3/11 -
15-80464523-AGAGC-CT FAH c.639_643delinsCT p.E214_P215delinsS MultiAAMissense 8/14 -
9-5050780-G-T JAK2 c.563G>T p.R188I Missense 6/25 -
2-234669217-T-C UGT1A1 c.284T>C p.L95P Missense 1/5 -
5-11384843-G-A CTNND2 c.1111C>T p.Q371* Nonsense 7/22 -
10-27112113-G-A ABI1 c.239C>T p.A80V Missense 2/11 -
2-215674208-T-C BARD1 c.86A>G p.D29G Missense 1/11 -
15-93489062-A-G CHD2 c.1165A>G p.S389G Missense 11/39 -
2-212288922-G-T ERBB4 c.2824C>A p.P942T Missense 23/28 -
2-239179991-G-A PER2 c.734C>T p.P245L Missense 6/23 -
17-40485751-G-T STAT3 c.989C>A p.P330H Missense 10/24 -
16-23647469-C-T PALB2 c.398G>A p.S133N Missense 4/13 -
2-141264407-C-G LRP1B c.8479G>C p.D2827H Missense 53/91 -
18-51820472-G-T POLI c.1858G>T p.D620Y Missense 10/10 -
5-23527554-G-T PRDM9 c.2357G>T p.R786I Missense 11/11 -
3-142277550-A-G ATR c.1801T>C p.S601P Missense 8/47 -
2-212522495-A-T ERBB4 c.1930T>A p.L644I Missense 16/28 -
11-118377252-C-T KMT2A c.10645C>T p.P3549S Missense 27/36 -
2-141081542-T-C LRP1B c.12434A>G p.H4145R Missense 81/91 -
4-2209818-C-A POLN c.610G>T p.D204Y Missense 5/26 -
8-92982932-G-T RUNX1T1 c.1382C>A p.A461E Missense 10/11 -
3-47147560-A-C SETD2 c.4766T>G p.F1589C Missense 6/21 -
2-39249768-T-A SOS1 c.1801A>T p.I601F Missense 10/23 -
5-1295047-C-A TERT c.58G>T p.E20* Nonsense 1/16 -
1-150795793-G-A ARNT c.1271C>T p.S424F Missense 14/22 -
X-76953101-G-C ATRX c.212C>G p.S71C Missense 4/35 -
X-76953110-G-A ATRX c.203C>T p.S68L Missense 4/35 -
3-52436654-A-G BAP1 c.2020T>C p.F674L Missense 16/17 -
5-11385202-GC-TT CTNND2 c.751_752delinsAA p.A251K Missense 7/22 -
5-149497256-T-C PDGFRB c.3062A>G p.Y1021C Missense 22/23 -
14-99641988-G-C BCL11B c.1185C>G p.F395L Missense 4/4 -
14-35231418-C-A BAZ1A c.3788G>T p.R1263L Missense 24/27 -
12-46246251-A-C ARID2 c.4345A>C p.N1449H Missense 15/21 -
14-35269537-C-T BAZ1A c.1021G>A p.E341K Missense 9/27 -
7-2972181-A-C CARD11 c.1558T>G p.S520A Missense 11/25 -
5-11385122-T-G CTNND2 c.832A>C p.T278P Missense 7/22 -
3-89499462-C-G EPHA3 c.2632C>G p.L878V Missense 15/17 -
8-139263241-C-A FAM135B c.385G>T p.G129W Missense 6/20 -
4-187628332-C-A FAT1 c.2650G>T p.D884Y Missense 2/27 -
2-140997050-G-T LRP1B c.13376C>A p.T4459N Missense 88/91 -
2-141135814-C-A LRP1B c.10573G>T p.G3525W Missense 68/91 -
2-141202233-T-A LRP1B c.10073A>T p.Q3358L Missense 64/91 -
11-77070009-C-A PAK1 c.531G>T p.E177D Missense 6/15 -
13-67801530-A-C PCDH9 c.1043T>G p.V348G Missense 2/5 -
4-55141080-G-T PDGFRA c.1726G>T p.D576Y Missense 12/23 -
8-139151306-C-G FAM135B c.3824G>C p.G1275A Missense 18/20 -
16-89825054-C-A FANCA c.2912G>T p.G971V Missense 30/43 -
1-91850744-G-C HFM1 c.802C>G p.P268A Missense 6/39 -
19-15288896-G-C NOTCH3 c.3843C>G p.F1281L Missense 24/33 -
17-58678138-G-A PPM1D c.363G>A p.W121* Nonsense 1/6 -
17-78899251-G-A RPTOR c.2890G>A p.A964T Missense 24/34 -
4-25678223-G-C SLC34A2 c.1925G>C p.S642T Missense 13/13 -
11-114113017-C-G ZBTB16 c.1582C>G p.P528A Missense 5/7 -
20-52192857-T-A ZNF217 c.2446A>T p.S816C Missense 4/6 -
16-2108815-G-A TSC2 c.916G>A p.A306T Missense 10/42 -
5-23522845-G-T PRDM9 c.733G>T p.G245W Missense 8/11 -
7-55231493-A-G EGFR c.1699A>G p.M567V Missense 14/28 -
16-23619314-A-C PALB2 c.3221T>G p.L1074R Missense 12/13 -
3-121155065-T-C POLQ c.7447A>G p.I2483V Missense 28/30 -
4-25678205-CCAAGTGCTGCCGCTGCAG-C SLC34A2 c.1918_1935del18 p.R640_C645del InFrameDeletion 13/13 -
2-212248520-AGGTG-TT ERBB4 c.3743_3747delinsAA p.P1248_P1249delinsQ MultiAAMissense 28/28 -
16-89833592-C-A FANCA c.2558G>T p.R853L Missense 27/43 -
8-139277959-A-G FAM135B c.284T>C p.L95S Missense 4/20 -
15-40913801-A-G KNL1 c.1339A>G p.R447G Missense 10/26 -
9-139413132-T-A NOTCH1 c.1010A>T p.D337V Missense 6/34 -
12-57597239-G-A LRP1 c.10886G>A p.R3629H Missense 70/89 -
7-81372740-C-A HGF c.794G>T p.G265V Missense 7/18 -
12-49426825-T-C KMT2D c.11663A>G p.K3888R Missense 40/55 -
12-49440509-C-T KMT2D c.4301G>A p.G1434D Missense 16/55 -
12-57595318-A-G LRP1 c.10384A>G p.I3462V Missense 66/89 -
21-36171619-C-A RUNX1 c.946G>T p.E316* Nonsense 8/9 -
12-57563051-G-T LRP1 c.3124G>T p.D1042Y Missense 20/89 -
1-120496231-T-G NOTCH2 c.2300A>C p.Q767P Missense 14/34 -
12-57532324-G-T LRP1 c.150G>T p.E50D Missense 2/89 -
18-48584742-TGCA-T SMAD4 c.820_822delGCA p.A274del InFrameDeletion 7/12 -
12-49436049-C-A KMT2D c.5932G>T p.G1978C Missense 29/55 -
12-57604261-C-G LRP1 c.12752C>G p.S4251C Missense 82/89 -
12-49434696-T-A KMT2D c.6857A>T p.E2286V Missense 32/55 -
9-2029224-G-T SMARCA2 c.202G>T p.E68* Nonsense 2/34 -
12-49443517-T-C KMT2D c.3854A>G p.E1285G Missense 12/55 -
X-70356467-A-C MED12 c.5362A>C p.K1788Q Missense 37/45 -
X-70348526-G-T MED12 c.3433G>T p.D1145Y Missense 24/45 -
X-70361791-G-T MED12 c.6467G>T p.R2156L Missense 44/45 -
1-120478167-G-C NOTCH2 c.3583C>G p.P1195A Missense 22/34 -
16-9916155-C-T GRIN2A c.2134G>A p.G712R Missense 10/13 -
9-2047283-C-T SMARCA2 c.845C>T p.A282V Missense 5/34 -
12-49440462-T-A KMT2D c.4348A>T p.I1450F Missense 16/55 -
1-120459145-A-T NOTCH2 c.6200T>A p.V2067E Missense 34/34 -
16-9862936-C-G GRIN2A c.2367G>C p.E789D Missense 12/13 -
16-9862936-C-A GRIN2A c.2367G>T p.E789D Missense 12/13 -
9-2039818-ACAGCAG-A SMARCA2 c.710_715delAGCAGC p.Q237_Q238del InFrameDeletion 4/34 -
12-115120657-G-C TBX3 c.349C>G p.H117D Missense 1/7 -
12-49416391-C-G KMT2D c.16320G>C p.E5440D Missense 52/55 -
6-94129004-A-C EPHA7 c.56T>G p.L19R Missense 1/17 -
7-81392035-G-T HGF c.242C>A p.P81Q Missense 2/18 -
7-81392186-C-A HGF c.91G>T p.G31* Nonsense 2/18 -
12-115112024-CCC-GCT TBX3 c.1654_1656delGGGinsAGC p.G552S Missense 6/7 -
16-3817899-C-G CREBBP c.3072G>C p.E1024D Missense 16/31 -
16-3817899-C-A CREBBP c.3072G>T p.E1024D Missense 16/31 -
4-187538244-G-A FAT1 c.8990C>T p.T2997M Missense 11/27 -
13-110435960-T-C IRS2 c.2441A>G p.Y814C Missense 1/2 -
4-187628631-G-A FAT1 c.2351C>T p.T784I Missense 2/27 -
8-128753080-C-A MYC c.1241C>A p.A414D Missense 3/3 -
13-110437863-C-A IRS2 c.538G>T p.A180S Missense 1/2 -
4-187629658-C-T FAT1 c.1324G>A p.D442N Missense 2/27 -
X-70680558-G-C TAF1 c.5364G>C p.E1768D Missense 37/38 -
X-70680558-G-T TAF1 c.5304G>T p.E1768D Missense 37/38 -
13-110438117-A-G IRS2 c.284T>C p.L95P Missense 1/2 -
4-187532548-G-C FAT1 c.9845C>G p.S3282C Missense 14/27 -
1-16256699-G-C SPEN c.3964G>C p.D1322H Missense 11/15 -
1-16261949-C-G SPEN c.9214C>G p.H3072D Missense 11/15 -
4-187538923-G-C FAT1 c.8817C>G p.I2939M Missense 10/27 -
3-52584798-T-C PBRM1 c.4324A>G p.T1442A Missense 28/30 -
4-187525680-C-A FAT1 c.10399G>T p.E3467* Nonsense 18/27 -
8-68981319-A-G PREX2 c.1391A>G p.Y464C Missense 12/40 -
3-47164304-C-A SETD2 c.1822G>T p.E608* Nonsense 3/21 -
8-68942774-G-T PREX2 c.586G>T p.A196S Missense 6/40 -
X-70357781-CC-TG MED12 c.6032_6033delCCinsTG p.T2011M Missense 41/45 -
3-47125724-G-C SETD2 c.5546C>G p.S1849W Missense 12/21 -
5-38949917-A-C RICTOR c.4033T>G p.L1345V Missense 31/38 -
3-47165651-T-A SETD2 c.475A>T p.T159S Missense 3/21 -
2-178098984-C-A NFE2L2 c.61G>T p.D21Y Missense 2/5 -
18-48584506-A-G SMAD4 c.679A>G p.S227G Missense 6/12 -
12-49446748-TCC-ACA KMT2D c.1060_1062delGGAinsTGT p.G354C Missense 9/55 -
5-11110975-C-T CTNND2 c.2458G>A p.D820N Missense 14/22 -
4-20543124-G-T SLIT2 c.2025G>T p.L675F Missense 20/37 -
5-11236868-C-A CTNND2 c.1696G>T p.V566F Missense 10/22 -
19-15280908-T-A NOTCH3 c.5188A>T p.K1730* Nonsense 28/33 -
4-175898075-T-C ADAM29 c.1399T>C p.W467R Missense 5/5 -
11-118376225-G-C KMT2A c.9618G>C p.Q3206H Missense 27/36 -
17-63554240-C-T AXIN2 c.499G>A p.D167N Missense 2/11 -
11-125513786-G-C CHEK1 c.914G>C p.S305T Missense 9/13 -
5-176524364-C-G FGFR4 c.2225C>G p.A742G Missense 17/18 -
4-20618628-A-T SLIT2 c.3943A>T p.S1315C Missense 35/37 -
19-15291035-C-A NOTCH3 c.3175G>T p.G1059W Missense 20/33 -
22-24145525-C-G SMARCB1 c.544C>G p.Q182E Missense 5/9 -
5-176522723-A-G FGFR4 c.1820A>G p.K607R Missense 13/18 -
8-139190903-G-C FAM135B c.904C>G p.Q302E Missense 10/20 -
18-48575674-G-T SMAD4 c.434G>T p.G145V Missense 4/12 -
X-39932554-T-A BCOR c.2045A>T p.H682L Missense 4/15 -
18-18546966-C-G ROCK1 c.3264G>C p.E1088D Missense 27/33 -
19-10472789-T-A TYK2 c.1738A>T p.S580C Missense 12/25 -
18-18572812-T-A ROCK1 c.1972A>T p.M658L Missense 17/33 -
8-139163888-C-A FAM135B c.2830G>T p.D944Y Missense 13/20 -
19-10476399-G-A TYK2 c.805C>T p.R269C Missense 7/25 -
13-28622559-G-C FLT3 c.1058C>G p.T353S Missense 9/24 -
19-10464256-C-A TYK2 c.2975G>T p.R992L Missense 21/25 -
6-93956531-G-C EPHA7 c.2705C>G p.T902S Missense 15/17 -
18-18566917-C-G ROCK1 c.2298G>C p.E766D Missense 19/33 -
8-139209873-C-G FAM135B c.709G>C p.A237P Missense 8/20 -
8-37556173-C-T ZNF703 c.1754C>T p.S585L Missense 2/2 -
8-37691596-G-T ADGRA2 c.1558G>T p.E520* Nonsense 11/19 -
18-18534990-C-A ROCK1 c.3607G>T p.E1203* Nonsense 31/33 -
8-37555705-C-T ZNF703 c.1286C>T p.S429L Missense 2/2 -
4-175897489-G-T ADAM29 c.813G>T p.K271N Missense 5/5 -
8-139163887-T-A FAM135B c.2831A>T p.D944V Missense 13/20 -
8-37695353-G-C ADGRA2 c.2155G>C p.G719R Missense 14/19 -
13-28588656-C-A FLT3 c.2792G>T p.R931M Missense 23/24 -
8-37553534-C-T ZNF703 c.37C>T p.P13S Missense 1/2 -
8-37697739-C-A ADGRA2 c.2612C>A p.P871Q Missense 17/19 -
18-18586366-C-T ROCK1 c.1831G>A p.E611K Missense 16/33 -
12-46211469-T-G ARID2 c.435T>G p.S145R Missense 5/21 -
8-37692903-C-A ADGRA2 c.1820C>A p.S607Y Missense 12/19 -
8-37691236-C-A ADGRA2 c.1327C>A p.L443M Missense 10/19 -
9-139412386-G-A NOTCH1 c.1259C>T p.A420V Missense 8/34 -
X-47030454-G-C RBM10 c.229G>C p.E77Q Missense 4/24 -
12-46211464-C-G ARID2 c.430C>G p.Q144E Missense 5/21 -
8-37698298-G-A ADGRA2 c.2678G>A p.G893E Missense 18/19 -
10-104268958-G-T SUFU c.215G>T p.S72I Missense 2/12 -
12-46287426-G-T ARID2 c.5285G>T p.G1762V Missense 20/21 -
8-139190879-G-A FAM135B c.928C>T p.L310F Missense 10/20 -
8-37692736-C-A ADGRA2 c.1653C>A p.H551Q Missense 12/19 -
X-47039636-T-G RBM10 c.1088T>G p.L363R Missense 11/24 -
3-52439804-G-A BAP1 c.908C>T p.A303V Missense 10/17 -
5-39003717-C-A RICTOR c.203G>T p.C68F Missense 4/38 -
19-10599875-G-T KEAP1 c.1701C>A p.Y567* Nonsense 5/6 -
17-33446587-T-C RAD51D c.46A>G p.M16V Missense 1/10 -
X-76937030-C-T ATRX c.3718G>A p.G1240R Missense 9/35 -
4-20555511-G-T SLIT2 c.2645G>T p.G882V Missense 26/37 -
19-10610409-C-T KEAP1 c.301G>A p.A101T Missense 2/6 -
X-76938270-C-A ATRX c.2478G>T p.K826N Missense 9/35 -
19-10599891-T-G KEAP1 c.1685A>C p.H562P Missense 5/6 -
3-169998165-A-G PRKCI c.856A>G p.K286E Missense 9/18 -
12-57554704-G-T LRP1 c.2008G>T p.D670Y Missense 13/89 -
12-49424527-C-T KMT2D c.13696G>A p.E4566K Missense 42/55 -
4-20490482-G-A SLIT2 c.652G>A p.A218T Missense 8/37 -
19-15311712-C-A NOTCH3 c.5G>T p.G2V Missense 1/33 -
5-11159777-G-T CTNND2 c.2070C>A p.H690Q Missense 12/22 -
19-15288753-C-A NOTCH3 c.3986G>T p.G1329V Missense 24/33 -
12-57859571-G-T GLI1 c.625G>T p.D209Y Missense 7/12 -
2-25470018-C-G DNMT3A c.1024G>C p.E342Q Missense 9/23 -
7-128845620-C-T SMO c.917C>T p.P306L Missense 4/12 -
7-151884466-G-T KMT2C c.4889C>A p.S1630* Nonsense 33/59 -
1-120508086-C-A NOTCH2 c.1671G>T p.Q557H Missense 10/34 -
1-120508086-C-G NOTCH2 c.1671G>C p.Q557H Missense 10/34 -
4-20525800-G-T SLIT2 c.1438G>T p.A480S Missense 14/37 -
7-151859914-G-A KMT2C c.10748C>T p.P3583L Missense 43/59 -
19-15297773-C-T NOTCH3 c.1867G>A p.D623N Missense 12/33 -
X-70603983-CGG-TGT TAF1 c.2179_2181delCGGinsTGT p.R707C Missense 13/38 -
7-151859998-G-C KMT2C c.10664C>G p.P3555R Missense 43/59 -
4-175898672-C-A ADAM29 c.1996C>A p.P666T Missense 5/5 -
12-57864752-T-A GLI1 c.2229T>A p.Y743* Nonsense 12/12 -
2-25536819-G-C DNMT3A c.35C>G p.T12S Missense 2/23 -
22-41562638-GAACTAGGAAAGAAAATAAGTTTTCTGCTAA-G EP300 c.3845_3874del30 p.T1282_K1291del InFrameDeletion 23/31 -
7-81334798-C-T HGF c.1918G>A p.E640K Missense 17/18 -
7-81392087-C-A HGF c.190G>T p.V64L Missense 2/18 -
15-40913801-AGA-TGT KNL1 c.1339_1341delAGAinsTGT p.R447C Missense 10/26 -
7-81358958-G-A HGF c.1003C>T p.H335Y Missense 8/18 -
7-151859879-C-A KMT2C c.10783G>T p.D3595Y Missense 43/59 -
7-151900080-AT-TA KMT2C c.4030_4031delATinsTA p.I1344* Nonsense 26/59 -
4-175898849-C-G ADAM29 c.2173C>G p.P725A Missense 5/5 -
4-20620609-G-T SLIT2 c.4567G>T p.G1523C Missense 37/37 -
7-152132792-G-T KMT2C c.80C>A p.P27Q Missense 1/59 -
7-151874130-G-A KMT2C c.8408C>T p.T2803I Missense 38/59 -
5-35873598-G-T IL7R c.554G>T p.S185I Missense 5/8 -
7-151874552-C-A KMT2C c.7986G>T p.L2662F Missense 38/59 -
6-93964429-C-A EPHA7 c.2468G>T p.G823V Missense 14/17 -
5-56161261-G-C MAP3K1 c.1130G>C p.R377T Missense 5/20 -
4-143045777-C-G INPP4B c.1857G>C p.M619I Missense 19/26 -
4-143045777-C-T INPP4B c.1857G>A p.M619I Missense 19/26 -
2-25497834-C-A DNMT3A c.615G>T p.E205D Missense 6/23 -
1-120458487-G-T NOTCH2 c.6858C>A p.S2286R Missense 34/34 -
5-176520497-G-C FGFR4 c.1342G>C p.G448R Missense 10/18 -
13-110437074-T-A IRS2 c.1327A>T p.T443S Missense 1/2 -
12-49438220-T-G KMT2D c.5049A>C p.E1683D Missense 21/55 -
1-120468106-T-C NOTCH2 c.4333A>G p.S1445G Missense 25/34 -
13-110436394-G-T IRS2 c.2007C>A p.S669R Missense 1/2 -
4-187534455-C-T FAT1 c.9271G>A p.A3091T Missense 13/27 -
16-3781436-G-C CREBBP c.4929C>G p.I1643M Missense 30/31 -
7-2968281-C-A CARD11 c.1705G>T p.G569* Nonsense 13/25 -
X-53250025-A-G KDM5C c.224T>C p.L75P Missense 2/26 -
7-2946391-G-T CARD11 c.3346C>A p.L1116M Missense 25/25 -
9-139403394-GCC-TCA NOTCH1 c.3097_3099delGGCinsTGA p.G1033* Nonsense 19/34 -
8-32599551-AGA-TGT NRG1 c.658_660delAGAinsTGT p.R220C Missense 7/12 -
17-37627532-T-A CDK12 c.1447T>A p.L483M Missense 2/14 -
19-10463759-G-T TYK2 c.3043C>A p.H1015N Missense 22/25 -
5-149509464-T-A PDGFRB c.1435A>T p.N479Y Missense 10/23 -
5-149499610-G-A PDGFRB c.2663C>T p.S888F Missense 19/23 -
5-149497221-C-A PDGFRB c.3097G>T p.A1033S Missense 22/23 -
5-149513212-A-T PDGFRB c.871T>A p.C291S Missense 6/23 -
16-3860727-TC-GT CREBBP c.851_852delGAinsAC p.G284D Missense 3/31 -
7-151927330-CT-TA KMT2C c.2845_2846delAGinsTA p.S949Y Missense 17/59 -
11-69625357-G-T FGF3 c.436C>A p.Q146K Missense 3/3 -
11-69625098-G-T FGF3 c.695C>A p.S232Y Missense 3/3 -
12-49426896-GTGC-G KMT2D c.11589_11591delGCA p.Q3863del InFrameDeletion 40/55 -
12-57556673-G-C LRP1 c.2437G>C p.G813R Missense 15/89 -
10-123239409-G-A FGFR2 c.2428C>T p.P810S Missense 18/18 -
X-47040785-G-C RBM10 c.1420G>C p.D474H Missense 13/24 -
8-139180227-G-T FAM135B c.1169C>A p.P390Q Missense 12/20 -
10-50732610-C-A ERCC6 c.866G>T p.G289V Missense 5/21 -
10-84744859-C-A NRG3 c.1589C>A p.S530* Nonsense 9/9 -
22-41489055-C-T EP300 c.47C>T p.P16L Missense 1/31 -
19-17945402-G-T JAK3 c.2328C>A p.D776E Missense 17/24 -
12-49445232-G-A KMT2D c.2234C>T p.P745L Missense 11/55 -
X-53241049-C-A KDM5C c.1162G>T p.A388S Missense 9/26 -
12-49444773-G-A KMT2D c.2693C>T p.P898L Missense 11/55 -
X-53231139-T-A KDM5C c.1763A>T p.Q588L Missense 13/26 -
1-120493406-T-G NOTCH2 c.2420A>C p.Q807P Missense 15/34 -
10-123279680-CG-TT FGFR2 c.751_752delCGinsAA p.R251K Missense 7/18 -
2-212426675-T-A ERBB4 c.2440A>T p.N814Y Missense 20/28 -
16-3900312-C-A CREBBP c.784G>T p.G262* Nonsense 2/31 -
7-142655047-C-A KEL c.539G>T p.R180L Missense 6/19 -
22-21346032-G-T LZTR1 c.907G>T p.A303S Missense 9/21 -
16-3778547-C-A CREBBP c.6501G>T p.Q2167H Missense 31/31 -
10-43609030-C-A RET c.1786C>A p.P596T Missense 10/20 -
20-43955990-G-C SDC4 c.511C>G p.R171G Missense 5/5 -
18-42530347-C-G SETBP1 c.1042C>G p.P348A Missense 4/6 -
1-158582725-T-C SPTA1 c.7016A>G p.Y2339C Missense 51/52 -
X-123211817-A-G STAG2 c.2684A>G p.D895G Missense 27/35 -
16-23652457-G-A PALB2 c.22C>T p.P8S Missense 1/13 -
17-63554302-G-C AXIN2 c.437C>G p.S146C Missense 2/11 -
1-7700542-C-A CAMTA1 c.593C>A p.S198Y Missense 7/23 -
5-24537497-G-T CDH10 c.518C>A p.S173Y Missense 3/12 -
3-48627067-G-C COL7A1 c.2135C>G p.A712G Missense 17/119 -
5-11236878-C-A CTNND2 c.1686G>T p.Q562H Missense 10/22 -
13-73346015-T-A DIS3 c.1523A>T p.D508V Missense 11/21 -
X-37028800-C-T FAM47C c.2317C>T p.H773Y Missense 1/1 -
X-37027138-G-T FAM47C c.655G>T p.V219L Missense 1/1 -
5-180048726-G-C FLT4 c.1836C>G p.N612K Missense 13/30 -
6-114270369-C-A HDAC2 c.695G>T p.G232V Missense 7/14 -
7-26233300-C-G HNRNPA2B1 c.736G>C p.G246R Missense 8/11 -
7-151874299-C-T KMT2C c.8239G>A p.D2747N Missense 38/59 -
1-32741261-G-C LCK c.469G>C p.E157Q Missense 6/13 -
15-41991349-T-G MGA c.2180T>G p.L727R Missense 5/24 -
1-76356413-A-T MSH4 c.2259A>T p.K753N Missense 17/20 -
5-38955701-G-A RICTOR c.2605C>T p.Q869* Nonsense 26/38 -
1-205632093-C-A SLC45A3 c.826G>T p.V276L Missense 3/5 -
10-70404824-G-A TET1 c.2338G>A p.E780K Missense 4/12 -
12-124862882-C-A NCOR2 c.2068G>T p.A690S Missense 20/49 -
11-108186611-G-A ATM c.6068G>A p.G2023E Missense 41/63 -
X-63409806-C-T AMER1 c.3361G>A p.A1121T Missense 2/2 -
12-133219531-C-T POLE c.4603G>A p.G1535S Missense 36/49 -
3-187447397-G-C BCL6 c.796C>G p.P266A Missense 5/10 -
13-26959374-A-C CDK8 c.541A>C p.N181H Missense 6/13 -
1-76363698-C-G MSH4 c.2462C>G p.S821* Nonsense 18/20 -
5-67592046-A-G PIK3R1 c.1862A>G p.E621G Missense 15/16 -
2-55808776-A-G PPP4R3B c.1292T>C p.L431P Missense 8/17 -
21-36164661-A-G RUNX1 c.1214T>C p.L405P Missense 9/9 -
5-225669-G-T SDHA c.448G>T p.V150L Missense 4/15 -
8-37554901-C-G ZNF703 c.482C>G p.S161C Missense 2/2 -
17-63531757-G-T AXIN2 c.2224C>A p.L742M Missense 9/11 -
22-29446376-G-A ZNRF3 c.2207G>A p.G736E Missense 8/9 -
13-110438219-G-A IRS2 c.182C>T p.T61M Missense 1/2 -
16-23647463-G-C PALB2 c.404C>G p.P135R Missense 4/13 -
17-78319360-C-T RNF213 c.7225C>T p.R2409W Missense 29/68 -
2-234681071-G-A UGT1A1 c.1468G>A p.D490N Missense 5/5 -
5-23523463-A-T PRDM9 c.946A>T p.M316L Missense 9/11 -
21-44513330-C-T U2AF1 c.605G>A p.R202H Missense 8/8 -
X-14883336-A-T FANCB c.297T>A p.N99K Missense 3/10 -
2-141660704-C-A LRP1B c.3551G>T p.S1184I Missense 23/91 -
2-141474278-C-A LRP1B c.5866G>T p.E1956* Nonsense 36/91 -
6-116381131-G-C FRK c.344C>G p.P115R Missense 1/8 -
6-149997768-C-T LATS1 c.2699G>A p.R900H Missense 6/8 -
1-202302426-A-G UBE2T c.323T>C p.L108S Missense 5/7 -
16-23646821-T-G PALB2 c.1046A>C p.N349T Missense 4/13 -
19-10912992-C-T DNM2 c.1451C>T p.S484F Missense 12/21 -
12-49425664-T-C KMT2D c.12824A>G p.Q4275R Missense 40/55 -
9-139404390-A-C NOTCH1 c.2764T>G p.C922G Missense 18/34 -
7-42188037-C-G GLI3 c.155G>C p.R52T Missense 3/15 -
4-143130087-A-G INPP4B c.929T>C p.M310T Missense 13/26 -
4-143094901-T-C INPP4B c.1243A>G p.S415G Missense 16/26 -
7-42004731-T-C GLI3 c.3940A>G p.N1314D Missense 15/15 -
9-139417446-C-A NOTCH1 c.598G>T p.G200C Missense 4/34 -
5-180056747-C-T FLT4 c.765G>A p.W255* Nonsense 6/30 -
9-139390766-GGG-TTA NOTCH1 c.7423_7425delCCCinsTAA p.P2475* Nonsense 34/34 -
9-139392007-C-A NOTCH1 c.6184G>T p.E2062* Nonsense 34/34 -
10-8097853-C-A GATA3 c.235C>A p.H79N Missense 2/6 -
10-84718751-G-T NRG3 c.1204G>T p.G402C Missense 6/9 -
10-84738875-G-T NRG3 c.1582G>T p.G528W Missense 8/9 -
10-84118519-G-C NRG3 c.848G>C p.R283P Missense 2/9 -
2-141460009-G-T LRP1B c.6137C>A p.S2046Y Missense 38/91 -
16-23646565-A-T PALB2 c.1302T>A p.D434E Missense 4/13 -
4-55153666-G-A PDGFRA c.2632G>A p.V878I Missense 19/23 -
14-68292278-C-T RAD51B c.182C>T p.A61V Missense 3/11 -
1-155874203-C-T RIT1 c.328G>A p.E110K Missense 5/6 -
7-101870899-C-G CUX1 c.3383C>G p.T1128S Missense 21/24 -
5-38511972-T-A LIFR c.656A>T p.E219V Missense 6/20 -
6-30680806-C-T MDC1 c.913G>A p.D305N Missense 5/15 -
6-30680838-G-A MDC1 c.881C>T p.P294L Missense 5/15 -
1-11199643-C-G MTOR c.4945G>C p.D1649H Missense 35/58 -
16-23649272-C-G PALB2 c.110G>C p.R37P Missense 3/13 -
4-41748126-C-A PHOX2B c.643G>T p.G215C Missense 3/3 -
15-89876714-C-A POLG c.272G>T p.G91V Missense 2/23 -
4-39303945-C-A RFC1 c.2488G>T p.D830Y Missense 19/25 -
17-56435723-G-A RNF43 c.1414C>T p.H472Y Missense 9/10 -
12-111856316-G-A SH2B3 c.367G>A p.E123K Missense 2/8 -
10-70446125-A-G TET1 c.5065A>G p.T1689A Missense 11/12 -
11-114118018-G-T ZBTB16 c.1723G>T p.E575* Nonsense 6/7 -
12-6711147-CTCC-A CHD4 c.414_417delinsT p.E138_E139delinsD MultiAAMissense 4/40 -
10-70332496-T-G TET1 c.401T>G p.L134* Nonsense 2/12 -
20-52198485-G-A ZNF217 c.881C>T p.T294I Missense 2/6 -
X-47429381-G-C ARAF c.1509G>C p.M503I Missense 14/16 -
19-11169036-A-G SMARCA4 c.4530A>G p.I1510M Missense 31/35 -
15-93496744-A-T CHD2 c.1660A>T p.I554F Missense 14/39 -
2-212293169-T-A ERBB4 c.2683A>T p.R895W Missense 22/28 -
6-32178654-A-T NOTCH4 c.2740T>A p.Y914N Missense 18/30 -
16-81954854-A-C PLCG2 c.2287A>C p.S763R Missense 21/33 -
3-48461153-C-A PLXNB1 c.2542G>T p.E848* Nonsense 11/38 -
7-128845484-C-A SMO c.781C>A p.R261S Missense 4/12 -
1-158609732-C-A SPTA1 c.4803G>T p.K1601N Missense 34/52 -
19-1625692-C-A TCF3 c.382G>T p.G128C Missense 7/19 -
15-91358420-A-G BLM c.4165A>G p.T1389A Missense 22/22 -
16-65016047-G-A CDH11 c.1157C>T p.P386L Missense 8/13 -
20-52193049-G-C ZNF217 c.2254C>G p.R752G Missense 4/6 -
7-50358659-T-C IKZF1 c.2T>C p.M1? Missense 2/8 -
X-47429381-G-A ARAF c.1509G>A p.M503I Missense 14/16 -
3-48607342-G-A COL7A1 c.7492C>T p.P2498S Missense 100/119 -
7-86468735-G-T GRM3 c.1905G>T p.K635N Missense 4/6 -
2-225371637-C-A CUL3 c.967G>T p.E323* Nonsense 7/16 -
18-45371774-T-C SMAD2 c.1217A>G p.Y406C Missense 10/11 -
1-162748394-G-C DDR2 c.2308G>C p.V770L Missense 17/18 -
1-162748394-G-T DDR2 c.2308G>T p.V770L Missense 17/18 -
18-45423039-C-A SMAD2 c.89G>T p.G30V Missense 2/11 -
17-12011167-G-T MAP2K4 c.574G>T p.V192L Missense 5/11 -
1-162729641-A-T DDR2 c.727A>T p.T243S Missense 8/18 -
X-123220540-G-T STAG2 c.3197G>T p.R1066L Missense 30/35 -
12-4553305-G-T FGF6 c.444C>A p.Y148* Nonsense 2/3 -
7-77756609-G-T MAGI2 c.3328C>A p.P1110T Missense 19/22 -
4-110932446-T-A EGF c.3459T>A p.D1153E Missense 24/24 -
12-4553336-A-C FGF6 c.413T>G p.F138C Missense 2/3 -
7-77824343-G-T MAGI2 c.2117C>A p.T706K Missense 12/22 -
17-40491385-C-A STAT3 c.415G>T p.E139* Nonsense 5/24 -
17-40490753-T-A STAT3 c.546A>T p.Q182H Missense 6/24 -
7-77764475-C-T MAGI2 c.2894G>A p.R965H Missense 17/22 -
5-44305164-C-A FGF10 c.560G>T p.R187M Missense 3/3 -
9-27158068-G-A TEK c.292G>A p.G98S Missense 2/23 -
8-56922564-G-A LYN c.1434G>A p.M478I Missense 13/13 -
3-138665311-A-C FOXL2 c.254T>G p.I85S Missense 1/1 -
3-138665021-C-A FOXL2 c.544G>T p.G182W Missense 1/1 -
6-35420392-G-C FANCE c.70G>C p.A24P Missense 1/10 -
18-19751266-C-T GATA6 c.161C>T p.P54L Missense 2/7 -
18-19751928-G-T GATA6 c.823G>T p.A275S Missense 2/7 -
9-101908791-T-G TGFBR1 c.1155T>G p.D385E Missense 7/9 -
9-101908791-T-A TGFBR1 c.1155T>A p.D385E Missense 7/9 -
1-43806095-G-C MPL c.891G>C p.K297N Missense 6/12 -
1-32745537-G-C LCK c.1137G>C p.K379N Missense 11/13 -
2-109365402-G-T RANBP2 c.1090G>T p.G364C Missense 9/29 -
2-109381431-A-G RANBP2 c.4436A>G p.K1479R Missense 20/29 -
1-92944298-C-G GFI1 c.937G>C p.D313H Missense 6/7 -
14-50904199-C-G MAP4K5 c.1877G>C p.C626S Missense 26/33 -
X-47429381-G-T ARAF c.1509G>T p.M503I Missense 14/16 -
16-72822008-TTGCTGCTGCTGCTGCTGTAGTTGCCGC-T ZFHX3 c.10140_10166del27 p.R3381_Q3389del InFrameDeletion 10/10 -
5-176636733-G-A NSD1 c.1333G>A p.G445S Missense 5/23 -
9-101910019-G-C TGFBR1 c.1339G>C p.E447Q Missense 8/9 -
X-37029167-C-A FAM47C c.2684C>A p.S895* Nonsense 1/1 -
16-14038647-AG-CA ERCC4 c.1972_1973delAGinsCA p.R658Q Missense 10/11 -
7-50367270-A-T IKZF1 c.77A>T p.E26V Missense 3/8 -
13-43148645-A-G TNFSF11 c.206A>G p.Y69C Missense 1/5 -
12-394642-C-A KDM5A c.5053G>T p.D1685Y Missense 28/28 -
12-432880-C-A KDM5A c.2036G>T p.C679F Missense 15/28 -
14-35873801-C-G NFKBIA c.50G>C p.R17P Missense 1/6 -
8-41838393-C-A KAT6A c.878G>T p.C293F Missense 5/17 -
17-38561111-C-T TOP2A c.1978G>A p.D660N Missense 17/35 -
20-52198484-GG-CA ZNF217 c.881_882delCCinsTG p.T294M Missense 2/6 -
5-176638075-C-G NSD1 c.2675C>G p.S892C Missense 5/23 -
15-88680728-G-A NTRK3 c.529C>T p.Q177* Nonsense 7/20 -
5-176721514-C-T NSD1 c.7145C>T p.T2382I Missense 23/23 -
1-243809299-G-C AKT3 c.325C>G p.L109V Missense 5/14 -
3-134670227-T-G EPHB1 c.138T>G p.S46R Missense 3/16 -
3-134670227-T-A EPHB1 c.138T>A p.S46R Missense 3/16 -
3-134670225-A-C EPHB1 c.136A>C p.S46R Missense 3/16 -
11-2156612-G-C IGF2 c.142C>G p.R48G Missense 2/4 -
X-63410306-C-A AMER1 c.2861G>T p.G954V Missense 2/2 -
X-63410076-C-T AMER1 c.3091G>A p.G1031S Missense 2/2 -
16-360032-G-T AXIN1 c.1057C>A p.R353S Missense 4/11 -
13-25073489-G-T PARP4 c.427C>A p.P143T Missense 5/34 -
X-47422679-G-C ARAF c.151G>C p.V51L Missense 3/16 -
X-47422679-G-T ARAF c.151G>T p.V51L Missense 3/16 -
15-93557956-G-T CHD2 c.4723G>T p.G1575C Missense 37/39 -
12-6709561-C-A CHD4 c.1064G>T p.G355V Missense 9/40 -
2-42556052-A-T EML4 c.2368A>T p.T790S Missense 22/23 -
12-6711562-T-A CHD4 c.202A>T p.S68C Missense 3/40 -
9-27172646-A-C TEK c.661A>C p.N221H Missense 5/23 -
3-121215679-G-C POLQ c.2254C>G p.Q752E Missense 14/30 -
1-36939216-C-G CSF3R c.493G>C p.G165R Missense 6/17 -
9-133730435-C-A ABL1 c.501C>A p.Y167* Nonsense 3/11 -
9-133730435-C-G ABL1 c.501C>G p.Y167* Nonsense 3/11 -
17-78857240-G-T RPTOR c.1606G>T p.A536S Missense 15/34 -
3-121192216-C-G POLQ c.6524G>C p.R2175T Missense 21/30 -
17-78933991-G-T RPTOR c.3591G>T p.M1197I Missense 30/34 -
1-205589173-G-A ELK4 c.1001C>T p.T334M Missense 3/5 -
17-78899172-TGCGGACGAC-T RPTOR c.2820_2828delCGCGGACGA p.D942_A944del InFrameDeletion 24/34 -
1-16464859-G-A EPHA2 c.890C>T p.T297M Missense 4/17 -
3-134977916-A-T EPHB1 c.2909A>T p.H970L Missense 16/16 -
19-33792266-T-A CEBPA c.1055A>T p.K352M Missense 1/1 -
20-62178789-C-A SRMS c.28G>T p.A10S Missense 1/8 -
3-134884843-C-T EPHB1 c.1619C>T p.P540L Missense 8/16 -
19-18272259-G-A PIK3R2 c.769G>A p.A257T Missense 6/16 -
8-92972640-G-A RUNX1T1 c.1534C>T p.H512Y Missense 11/11 -
4-110862151-T-G EGF c.177T>G p.I59M Missense 2/24 -
8-56854429-TA-GC LYN c.11_12delTAinsGC p.I4S Missense 2/13 -
20-52192425-C-A ZNF217 c.2878G>T p.V960L Missense 4/6 -
8-92972597-G-T RUNX1T1 c.1577C>A p.T526K Missense 11/11 -
15-88472559-C-A NTRK3 c.1996G>T p.G666C Missense 17/20 -
5-11385314-C-T CTNND2 c.640G>A p.A214T Missense 7/22 -
3-138456587-C-T PIK3CB c.763G>A p.E255K Missense 6/24 -
X-47430845-C-A ARAF c.1810C>A p.L604I Missense 16/16 -
3-138417901-C-T PIK3CB c.1618G>A p.E540K Missense 13/24 -
20-31022728-G-T ASXL1 c.2213G>T p.G738V Missense 13/13 -
12-56482362-G-T ERBB3 c.910G>T p.A304S Missense 8/28 -
1-193202215-GC-AG CDC73 c.1247_1248delGCinsAG p.G416E Missense 14/17 -
16-396594-G-C AXIN1 c.432C>G p.I144M Missense 2/11 -
15-89876589-C-A POLG c.397G>T p.D133Y Missense 2/23 -
16-396151-A-T AXIN1 c.875T>A p.F292Y Missense 2/11 -
12-56487933-A-G ERBB3 c.1664A>G p.E555G Missense 14/28 -
19-33793197-G-C CEBPA c.124C>G p.P42A Missense 1/1 -
17-62007235-C-G CD79B c.444G>C p.L148F Missense 4/6 -
16-64981840-C-G CDH11 c.2057G>C p.G686A Missense 13/13 -
8-95403872-A-G RAD54B c.1774T>C p.C592R Missense 10/15 -
5-38963118-A-C RICTOR c.1426T>G p.L476V Missense 17/38 -
1-158604344-C-G SPTA1 c.5554G>C p.A1852P Missense 39/52 -
16-2131661-A-G TSC2 c.3676A>G p.M1226V Missense 31/42 -
2-216986937-T-C XRCC5 c.644T>C p.L215S Missense 6/21 -
13-110438220-T-C IRS2 c.181A>G p.T61A Missense 1/2 -
12-133240633-A-G POLE c.2663T>C p.V888A Missense 23/49 -
2-48027925-T-A MSH6 c.2803T>A p.S935T Missense 4/10 -
5-224538-G-T SDHA c.214G>T p.A72S Missense 3/15 -
9-433928-G-C DOCK8 c.4839G>C p.M1613I Missense 38/48 -
9-5054787-C-G JAK2 c.839C>G p.S280* Nonsense 7/25 -
2-48027797-C-G MSH6 c.2675C>G p.S892C Missense 4/10 -
16-23641322-C-T PALB2 c.2153G>A p.R718K Missense 5/13 -
11-74345631-T-C POLD3 c.1010T>C p.F337S Missense 10/12 -
13-34410346-A-G RFC3 c.985A>G p.I329V Missense 9/9 -
22-38948706-C-T DMC1 c.386G>A p.R129H Missense 7/14 -
4-187629175-G-T FAT1 c.1807C>A p.Q603K Missense 2/27 -
16-10273855-C-G GRIN2A c.414G>C p.K138N Missense 2/13 -
2-140990810-C-T LRP1B c.13745G>A p.R4582K Missense 91/91 -
7-40174012-G-A MPLKIP c.155C>T p.P52L Missense 1/2 -
2-223066810-C-A PAX3 c.1273G>T p.V425L Missense 8/9 -
13-66878831-G-T PCDH9 c.3670C>A p.Q1224K Missense 5/5 -
3-189608666-A-T TP63 c.1741A>T p.M581L Missense 13/14 -
5-98208259-C-A CHD1 c.3572G>T p.G1191V Missense 27/36 -
3-89259367-G-C EPHA3 c.511G>C p.V171L Missense 3/17 -
6-94120474-T-A EPHA7 c.577A>T p.I193L Missense 3/17 -
4-55968146-C-A KDR c.2184G>T p.R728S Missense 15/30 -
7-128852118-G-T SMO c.2190G>T p.W730C Missense 12/12 -
16-23625372-C-A PALB2 c.3154G>T p.D1052Y Missense 11/13 -
5-54528344-T-A CCNO c.412A>T p.S138C Missense 2/3 -
19-42752703-C-A ERF c.1561G>T p.A521S Missense 4/4 -
3-37070417-C-T MLH1 c.1552C>T p.H518Y Missense 13/19 -
1-11316096-T-A MTOR c.658A>T p.T220S Missense 5/58 -
19-52714695-C-G PPP2R1A c.453C>G p.F151L Missense 4/15 -
14-94696973-C-T PPP4R4 c.344C>T p.S115L Missense 4/25 -
18-42643497-C-A SETBP1 c.4625C>A p.P1542H Missense 6/6 -
12-54575953-G-A SMUG1 c.740C>T p.A247V Missense 4/4 -
2-39213375-T-C SOS1 c.3592A>G p.I1198V Missense 23/23 -
14-99641773-G-A BCL11B c.1400C>T p.A467V Missense 4/4 -
8-119123266-T-C EXT1 c.20A>G p.Y7C Missense 1/11 -
1-3322159-C-T PRDM16 c.1133C>T p.S378F Missense 8/17 -
9-35074426-T-C FANCG c.1702A>G p.T568A Missense 13/14 -
3-37089047-T-C MLH1 c.1769T>C p.L590S Missense 16/19 -
3-138426063-C-A PIK3CB c.1468G>T p.A490S Missense 11/24 -
14-94712865-A-G PPP4R4 c.1600A>G p.M534V Missense 14/25 -
20-62331957-G-A ARFRP1 c.515C>T p.T172I Missense 7/8 -
1-150551451-G-A MCL1 c.556C>T p.L186F Missense 1/3 -
14-81610038-T-A TSHR c.1636T>A p.W546R Missense 10/10 -
17-8110528-G-T AURKB c.364C>A p.L122M Missense 5/9 -
20-30309907-C-A BCL2L1 c.115G>T p.E39* Nonsense 2/3 -
16-88958680-C-T CBFA2T3 c.593G>A p.R198H Missense 4/12 -
1-59248705-G-A JUN c.38C>T p.A13V Missense 1/1 -
6-106554268-G-A PRDM1 c.1796G>A p.G599E Missense 6/7 -
5-98239525-G-T CHD1 c.343C>A p.Q115K Missense 4/36 -
2-191897798-C-G STAT4 c.1930G>C p.D644H Missense 21/24 -
6-401745-G-T IRF4 c.1067G>T p.C356F Missense 7/9 -
3-3215901-G-T CRBN c.219C>A p.H73Q Missense 3/11 -
3-3215901-G-C CRBN c.219C>G p.H73Q Missense 3/11 -
6-106536196-G-C PRDM1 c.163G>C p.E55Q Missense 2/7 -
15-75091248-G-A CSK c.211G>A p.V71M Missense 4/13 -
5-98234380-C-G CHD1 c.1174G>C p.E392Q Missense 9/36 -
15-90631701-C-A IDH2 c.568G>T p.G190C Missense 5/11 -
14-35255422-T-C BAZ1A c.1516A>G p.T506A Missense 13/27 -
2-191900909-C-A STAT4 c.1551G>T p.M517I Missense 17/24 -
10-98088561-A-G DNTT c.1087A>G p.K363E Missense 8/11 -
14-35255409-T-C BAZ1A c.1529A>G p.D510G Missense 13/27 -
5-86670020-T-C RASA1 c.1817T>C p.L606P Missense 14/25 -
7-148514464-T-A EZH2 c.1260A>T p.Q420H Missense 11/20 -
7-148514464-T-G EZH2 c.1260A>C p.Q420H Missense 11/20 -
5-23526501-A-G PRDM9 c.1304A>G p.Q435R Missense 11/11 -
16-81946205-G-T PLCG2 c.1938G>T p.W646C Missense 19/33 -
14-81610038-T-C TSHR c.1636T>C p.W546R Missense 10/10 -
14-81610165-C-A TSHR c.1763C>A p.T588K Missense 10/10 -
17-79508379-C-A FAAP100 c.2470G>T p.D824Y Missense 8/9 -
1-201982130-C-G ELF3 c.654C>G p.D218E Missense 6/9 -
1-201982130-C-A ELF3 c.654C>A p.D218E Missense 6/9 -
1-78432421-G-A FUBP1 c.430C>T p.P144S Missense 7/20 -
5-161118980-G-T GABRA6 c.860G>T p.S287I Missense 8/9 -
9-93606569-A-G SYK c.389A>G p.E130G Missense 2/14 -
7-141408649-G-C WEE2 c.91G>C p.E31Q Missense 1/12 -
22-23653895-CC-AA BCR c.3194_3195delCCinsAA p.S1065* Nonsense 19/23 -
10-90773957-G-C FAS c.758G>C p.G253A Missense 9/9 -
16-81925084-C-T PLCG2 c.875C>T p.T292M Missense 11/33 -
15-40895140-T-G KNL1 c.11T>G p.V4G Missense 2/26 -
2-215645324-T-C BARD1 c.1274A>G p.N425S Missense 4/11 -
16-23641319-G-C PALB2 c.2156C>G p.P719R Missense 5/13 -
16-3640457-G-A SLX4 c.3182C>T p.S1061F Missense 12/15 -
4-84383830-G-A ABRAXAS1 c.1022C>T p.P341L Missense 9/9 -
3-3215758-G-A CRBN c.362C>T p.A121V Missense 3/11 -
7-148514321-C-A EZH2 c.1403G>T p.C468F Missense 11/20 -
X-37029041-G-T FAM47C c.2558G>T p.R853L Missense 1/1 -
X-37028654-C-G FAM47C c.2171C>G p.S724C Missense 1/1 -
16-2096337-C-T NTHL1 c.170G>A p.R49H Missense 2/6 -
4-55133743-C-A PDGFRA c.956C>A p.P319H Missense 7/23 -
10-70405890-A-G TET1 c.3404A>G p.H1135R Missense 4/12 -
12-133225642-T-A POLE c.4022A>T p.Q1341L Missense 32/49 -
22-42526618-T-A CYP2D6 c.176A>T p.D59V Missense 1/9 -
X-129200787-G-C ELF4 c.1901C>G p.S634C Missense 9/9 -
6-152129231-T-C ESR1 c.184T>C p.F62L Missense 1/8 -
8-139155277-T-A FAM135B c.3616A>T p.N1206Y Missense 16/20 -
12-475173-C-A KDM5A c.464G>T p.G155V Missense 4/28 -
1-120460307-C-T NOTCH2 c.6008G>A p.R2003Q Missense 33/34 -
19-15292474-G-T NOTCH3 c.2705C>A p.T902N Missense 17/33 -
19-50919942-A-C POLD1 c.3029A>C p.N1010T Missense 24/27 -
3-142281419-T-G ATR c.825A>C p.E275D Missense 4/47 -
4-55133898-C-T PDGFRA c.1111C>T p.Q371* Nonsense 7/23 -
X-14883457-T-A FANCB c.176A>T p.Q59L Missense 3/10 -
4-25664129-C-G SLC34A2 c.7C>G p.P3A Missense 2/13 -
20-39741443-T-C TOP1 c.1330T>C p.Y444H Missense 14/21 -
6-151687910-C-A ZBTB2 c.291G>T p.Q97H Missense 3/3 -
6-151687910-C-G ZBTB2 c.291G>C p.Q97H Missense 3/3 -
6-163836351-G-T QKI c.126G>T p.E42D Missense 1/8 -
2-96919823-G-C TMEM127 c.440C>G p.S147C Missense 4/4 -
6-151687300-C-G ZBTB2 c.901G>C p.D301H Missense 3/3 -
16-56873485-G-C NUP93 c.2189G>C p.R730T Missense 20/22 -
2-11332409-C-A ROCK2 c.4028G>T p.R1343L Missense 32/33 -
15-50751262-T-G USP8 c.401T>G p.L134R Missense 5/20 -
9-137321037-G-C RXRA c.994G>C p.V332L Missense 7/10 -
1-9775978-G-T PIK3CD c.442G>T p.E148* Nonsense 5/24 -
21-44840137-C-A SIK1 c.949G>T p.V317L Missense 8/14 -
15-67457402-C-T SMAD3 c.376C>T p.H126Y Missense 2/9 -
1-204506566-C-G MDM4 c.352C>G p.Q118E Missense 6/11 -
17-47684667-C-G SPOP c.782G>C p.G261A Missense 8/10 -
5-98195684-C-G CHD1 c.4516G>C p.E1506Q Missense 33/36 -
3-48604566-C-T COL7A1 c.8104G>A p.E2702K Missense 110/119 -
17-37873719-C-G ERBB2 c.1884C>G p.I628M Missense 15/27 -
3-148766779-C-G HLTF c.1627G>C p.D543H Missense 16/25 -
17-73658729-C-G RECQL5 c.601G>C p.E201Q Missense 4/20 -
3-133371473-C-A TOPBP1 c.923G>T p.S308I Missense 8/28 -
5-112176970-A-C APC c.5679A>C p.K1893N Missense 16/16 -
4-41748010-C-CGCG PHOX2B c.758_759insCGC p.A260dup InFrameInsertion 3/3 -
7-6414377-T-G RAC1 c.11T>G p.I4S Missense 1/6 -
16-23619272-G-A PALB2 c.3263C>T p.P1088L Missense 12/13 -
8-139278019-AA-GG FAM135B c.223_224delTTinsCC p.L75P Missense 4/20 -
2-141299518-CC-AG LRP1B c.7216_7217delGGinsCT p.G2406L Missense 44/91 -
9-87339236-G-C NTRK2 c.818G>C p.G273A Missense 8/19 -
16-23632710-G-C PALB2 c.3086C>G p.T1029S Missense 10/13 -
16-23632711-T-A PALB2 c.3085A>T p.T1029S Missense 10/13 -
9-35074183-C-A FANCG c.1791G>T p.L597F Missense 14/14 -
9-35074183-C-G FANCG c.1791G>C p.L597F Missense 14/14 -
2-141359206-C-G LRP1B c.6802G>C p.V2268L Missense 42/91 -
2-141359206-C-A LRP1B c.6802G>T p.V2268L Missense 42/91 -
9-139403421-C-G NOTCH1 c.3072G>C p.E1024D Missense 19/34 -
9-139403421-C-A NOTCH1 c.3072G>T p.E1024D Missense 19/34 -
16-23641769-T-A PALB2 c.1706A>T p.K569I Missense 5/13 -
16-23646653-G-A PALB2 c.1214C>T p.P405L Missense 4/13 -
6-18134039-A-C TPMT c.576T>G p.H192Q Missense 7/9 -
14-99641790-G-C BCL11B c.1383C>G p.D461E Missense 4/4 -
15-91293158-G-C BLM c.660G>C p.L220F Missense 3/22 -
19-30313507-G-T CCNE1 c.1107G>T p.L369F Missense 11/12 -
5-180046069-G-C FLT4 c.2802C>G p.N934K Missense 20/30 -
9-110068921-A-G RAD23B c.490A>G p.T164A Missense 4/10 -
17-17124862-T-C FLCN c.860A>G p.E287G Missense 8/14 -
5-112154742-C-G APC c.1013C>G p.S338C Missense 10/16 -
20-31019195-C-G ASXL1 c.790C>G p.L264V Missense 9/13 -
17-29556062-A-G NF1 c.2429A>G p.K810R Missense 21/58 -
16-88952418-C-T CBFA2T3 c.844G>A p.E282K Missense 6/12 -
11-32421503-T-A WT1 c.1089A>T p.R368S Missense 6/10 -
2-30143423-C-T ALK c.103G>A p.G35R Missense 1/29 -
22-21288380-C-G CRKL c.625C>G p.Q209E Missense 2/3 -
17-73659047-C-A RECQL5 c.283G>T p.V95L Missense 4/20 -
12-133218333-C-T POLE c.5278G>A p.V1760M Missense 39/49 -
10-84745348-C-T NRG3 c.2078C>T p.A693V Missense 9/9 -
12-109530489-C-T ALKBH2 c.103G>A p.E35K Missense 2/4 -
14-99641914-G-T BCL11B c.1259C>A p.P420Q Missense 4/4 -
5-24509755-T-G CDH10 c.1176A>C p.E392D Missense 7/12 -
5-158158150-G-C EBF1 c.1052C>G p.T351S Missense 11/16 -
3-134977930-C-G EPHB1 c.2923C>G p.Q975E Missense 16/16 -
1-241672010-G-T FH c.631C>A p.L211I Missense 5/10 -
9-101611241-C-G GALNT12 c.1613C>G p.S538C Missense 10/10 -
7-151860637-G-A KMT2C c.10025C>T p.A3342V Missense 43/59 -
1-120459022-G-A NOTCH2 c.6323C>T p.A2108V Missense 34/34 -
6-32164755-A-C NOTCH4 c.5147T>G p.L1716R Missense 28/30 -
15-88678477-G-C NTRK3 c.1059C>G p.Y353* Nonsense 10/20 -
2-109370294-A-T RANBP2 c.2069A>T p.K690M Missense 15/29 -
17-78305988-C-T RNF213 c.3700C>T p.Q1234* Nonsense 21/68 -
16-2107170-T-A TSC2 c.839T>A p.M280K Missense 9/42 -
11-2154854-C-A IGF2 c.199G>T p.V67F Missense 3/4 -
13-48955533-T-C RB1 c.1649T>C p.L550S Missense 17/27 -
16-23646387-T-A PALB2 c.1480A>T p.T494S Missense 4/13 -
8-41615628-C-T ANK1 c.55G>A p.A19T Missense 2/43 -
X-70340983-T-C MED12 c.716T>C p.L239P Missense 5/45 -
8-128752836-G-A MYC c.997G>A p.D333N Missense 3/3 -
2-141747214-C-A LRP1B c.2657G>T p.C886F Missense 17/91 -
5-79968150-G-T MSH3 c.880G>T p.V294L Missense 5/24 -
16-23646202-T-G PALB2 c.1665A>C p.K555N Missense 4/13 -
2-215617257-C-A BARD1 c.1591G>T p.V531F Missense 7/11 -
2-215610571-G-C BARD1 c.1685C>G p.T562S Missense 8/11 -
2-141299473-G-T LRP1B c.7262C>A p.S2421* Nonsense 44/91 -
16-89833611-T-C FANCA c.2539A>G p.K847E Missense 27/43 -
5-112177289-A-T APC c.5998A>T p.S2000C Missense 16/16 -
16-23625338-G-A PALB2 c.3188C>T p.A1063V Missense 11/13 -
19-11121162-C-G SMARCA4 c.2229C>G p.D743E Missense 15/35 -
1-11301690-G-C MTOR c.1461C>G p.S487R Missense 10/58 -
5-112179035-G-T APC c.7744G>T p.E2582* Nonsense 16/16 -
5-112176623-C-A APC c.5332C>A p.P1778T Missense 16/16 -
11-108115643-A-G ATM c.791A>G p.Y264C Missense 7/63 -
16-3832750-T-C CREBBP c.1508A>G p.Q503R Missense 6/31 -
2-29445399-A-C ALK c.3434T>G p.L1145R Missense 21/29 -
3-142217515-C-T ATR c.5482G>A p.A1828T Missense 32/47 -
16-23637581-T-A PALB2 c.2724A>T p.K908N Missense 7/13 -
4-99273682-G-T RAP1GDS1 c.291G>T p.L97= Synonymous 4/15 -
X-63412508-G-T AMER1 c.659C>A p.T220N Missense 2/2 -
14-99640744-T-C BCL11B c.2429A>G p.N810S Missense 4/4 -
X-39933644-T-C BCOR c.955A>G p.K319E Missense 4/15 -
7-2959221-C-A CARD11 c.2295G>T p.M765I Missense 18/25 -
11-47238458-A-G DDB2 c.314A>G p.Q105R Missense 3/10 -
11-108550233-G-T DDX10 c.794G>T p.R265L Missense 6/18 -
8-109215669-A-C EIF3E c.1125T>G p.I375M Missense 11/13 -
7-42007467-T-A GLI3 c.2158A>T p.I720F Missense 14/15 -
20-57485766-G-T GNAS c.1067G>T p.R356L Missense 13/13 -
11-128781947-G-T KCNJ5 c.779G>T p.G260V Missense 2/3 -
2-141777648-C-T LRP1B c.1813G>A p.A605T Missense 12/91 -
2-141299466-C-T LRP1B c.7269G>A p.W2423* Nonsense 44/91 -
1-150551597-C-T MCL1 c.410G>A p.R137Q Missense 1/3 -
1-11313970-T-A MTOR c.766A>T p.N256Y Missense 6/58 -
1-11308109-C-T MTOR c.883G>A p.V295I Missense 7/58 -
15-88483888-C-A NTRK3 c.1682G>T p.S561I Missense 15/20 -
15-88476311-G-T NTRK3 c.1821C>A p.C607* Nonsense 16/20 -
7-124503430-C-A POT1 c.520G>T p.V174L Missense 8/19 -
5-23526649-G-T PRDM9 c.1452G>T p.M484I Missense 11/11 -
9-8499744-C-G PTPRD c.2225G>C p.G742A Missense 25/46 -
10-43604668-G-T RET c.1253G>T p.R418L Missense 6/20 -
11-114027115-T-A ZBTB16 c.1325T>A p.L442Q Missense 3/7 -
3-142277595-T-C ATR c.1756A>G p.I586V Missense 8/47 -
9-98248051-G-T PTCH1 c.500C>A p.A167D Missense 3/24 -
5-24488084-C-G CDH10 c.2055G>C p.K685N Missense 12/12 -
7-101840577-G-T CUX1 c.1886G>T p.R629I Missense 15/24 -
15-31218038-C-T FAN1 c.2384C>T p.S795F Missense 10/15 -
16-3820740-CC-AA CREBBP c.2710_2711delGGinsTT p.G904F Missense 14/31 -
16-3900805-C-A CREBBP c.291G>T p.Q97H Missense 2/31 -
1-59248182-C-T JUN c.561G>A p.A187= Synonymous 1/1 -
1-59248182-C-G JUN c.561G>C p.A187= Synonymous 1/1 -
1-59248182-C-A JUN c.561G>T p.A187= Synonymous 1/1 -
5-112177334-G-A APC c.6043G>A p.E2015K Missense 16/16 -
1-65303712-G-T JAK1 c.3043C>A p.H1015N Missense 22/25 -
12-57550679-G-T LRP1 c.1537G>T p.G513C Missense 10/89 -
1-156841416-A-G NTRK1 c.719A>G p.K240R Missense 7/17 -
7-42007449-T-A GLI3 c.2176A>T p.S726C Missense 14/15 -
5-112162905-G-A APC c.1509G>A p.M503I Missense 12/16 -
16-23641769-T-C PALB2 c.1706A>G p.K569R Missense 5/13 -
9-101911584-G-A TGFBR1 c.1509G>A p.M503I Missense 9/9 -
2-141812700-C-A LRP1B c.1537G>T p.G513C Missense 10/91 -
1-158606447-T-A SPTA1 c.5294A>T p.H1765L Missense 37/52 -
4-20521021-A-T SLIT2 c.1075A>T p.K359* Nonsense 12/37 -
19-50912437-G-T POLD1 c.1951G>T p.V651L Missense 16/27 -
8-37691499-G-T ADGRA2 c.1461G>T p.M487I Missense 11/19 -
8-93026893-T-C RUNX1T1 c.271A>G p.R91G Missense 3/11 -
X-123184135-T-A STAG2 c.993T>A p.Y331* Nonsense 11/35 -
3-142231103-C-T ATR c.4851G>A p.M1617I Missense 27/47 -
16-23641522-TCC-CCA PALB2 c.1951_1953delGGAinsTGG p.G651W Missense 5/13 -
9-93641146-AGA-CAT SYK c.1492_1494delAGAinsCAT p.R498H Missense 11/14 -
16-68845705-C-G CDH1 c.951C>G p.F317L Missense 7/16 -
5-112175141-G-C APC c.3850G>C p.E1284Q Missense 16/16 -
1-156848999-G-T NTRK1 c.1891G>T p.A631S Missense 15/17 -
11-69514130-T-A FGF19 c.551A>T p.E184V Missense 3/3 -
16-23646339-T-C PALB2 c.1528A>G p.R510G Missense 4/13 -
5-112178805-G-C APC c.7514G>C p.R2505P Missense 16/16 -
5-79974857-C-T MSH3 c.1285C>T p.P429S Missense 8/24 -
18-9559596-C-G PPP4R1 c.1849G>C p.V617L Missense 14/20 -
9-2086997-C-T SMARCA2 c.2695C>T p.L899F Missense 18/34 -
X-123164949-G-T STAG2 c.262G>T p.V88F Missense 5/35 -
2-169792916-C-A ABCB11 c.2638G>T p.V880F Missense 22/28 -
2-29462590-G-T ALK c.2311C>A p.L771M Missense 13/29 -
7-2968297-G-C CARD11 c.1689C>G p.I563M Missense 13/25 -
5-11018094-A-G CTNND2 c.3076T>C p.Y1026H Missense 18/22 -
1-242048737-A-G EXO1 c.2333A>G p.H778R Missense 15/16 -
8-139209846-G-T FAM135B c.736C>A p.L246M Missense 8/20 -
8-139165234-C-T FAM135B c.1484G>A p.C495Y Missense 13/20 -
14-45623204-G-T FANCM c.1132G>T p.G378* Nonsense 6/23 -
4-187584757-C-A FAT1 c.3276G>T p.E1092D Missense 3/27 -
4-187510374-C-A FAT1 c.13139G>T p.G4380V Missense 27/27 -
11-118376344-T-G KMT2A c.9737T>G p.I3246S Missense 27/36 -
2-140992428-C-A LRP1B c.13586G>T p.S4529I Missense 90/91 -
16-23641726-C-G PALB2 c.1749G>C p.L583F Missense 5/13 -
14-62016445-A-C PRKCH c.1948A>C p.K650Q Missense 14/14 -
4-20550161-A-T SLIT2 c.2396A>T p.N799I Missense 23/37 -
16-3642800-C-T SLX4 c.2227G>A p.V743M Missense 11/15 -
3-181430515-G-T SOX2 c.367G>T p.D123Y Missense 1/1 -
3-105586309-T-C CBLB c.113A>G p.Q38R Missense 2/19 -
9-21971183-C-A CDKN2A c.175G>T p.V59L Missense 2/3 -
8-139164829-A-T FAM135B c.1889T>A p.L630Q Missense 13/20 -
2-17954489-A-T GEN1 c.994A>T p.I332F Missense 10/14 -
1-92948511-C-T GFI1 c.208G>A p.A70T Missense 3/7 -
1-92946270-C-T GFI1 c.674G>A p.R225H Missense 4/7 -
10-64949190-C-T JMJD1C c.6308G>A p.R2103Q Missense 18/26 -
2-16085894-G-T MYCN c.1070G>T p.R357L Missense 3/3 -
16-81941359-A-G PLCG2 c.1537A>G p.M513V Missense 16/33 -
2-55791607-C-A PPP4R3B c.2102G>T p.R701I Missense 15/17 -
9-8528615-C-T PTPRD c.517G>A p.G173S Missense 15/46 -
18-20581605-G-A RBBP8 c.2200G>A p.E734K Missense 15/19 -
17-78363006-A-G RNF213 c.15034A>G p.S5012G Missense 65/68 -
16-3646361-G-A SLX4 c.1717C>T p.P573S Missense 8/15 -
1-158617406-G-T SPTA1 c.3819C>A p.D1273E Missense 27/52 -
16-72821620-C-T ZFHX3 c.10555G>A p.G3519S Missense 10/10 -
16-2111939-ACCAGAACGAGTT-A TSC2 c.1191_1202del12 p.Q397_F400del InFrameDeletion 12/42 -
1-98157294-T-G DPYD c.741A>C p.L247= Synonymous 7/23 -
16-23649444-C-T PALB2 c.55G>A p.E19K Missense 2/13 -
9-135772878-G-C TSC1 c.2745C>G p.H915Q Missense 21/23 -
16-23632777-T-A PALB2 c.3019A>T p.M1007L Missense 10/13 -
1-158590216-G-T SPTA1 c.6161C>A p.A2054D Missense 44/52 -
15-91347400-G-A BLM c.3562G>A p.D1188N Missense 19/22 -
16-23646393-C-A PALB2 c.1474G>T p.G492W Missense 4/13 -
3-183245796-G-T KLHL6 c.296C>A p.A99D Missense 2/7 -
8-41812896-C-A KAT6A c.1516G>T p.V506F Missense 9/17 -
2-141571310-T-A LRP1B c.5275A>T p.R1759* Nonsense 32/91 -
4-110932529-A-T EGF c.3542A>T p.K1181M Missense 24/24 -
9-2047229-G-T SMARCA2 c.791G>T p.G264V Missense 5/34 -
14-95590793-A-T DICER1 c.1116T>A p.F372L Missense 8/27 -
21-44840229-C-T SIK1 c.857G>A p.G286E Missense 8/14 -
11-94204796-G-C MRE11 c.789C>G p.I263M Missense 8/20 -
14-35872380-T-A NFKBIA c.523A>T p.I175F Missense 3/6 -
13-28578233-C-G FLT3 c.2938G>C p.D980H Missense 24/24 -
2-141200116-G-C LRP1B c.10371C>G p.D3457E Missense 66/91 -
17-7578451-ATGGCGCGGACGCGGG-A TP53 c.464_478del15 p.T155_A159del InFrameDeletion 5/11 -
9-98270534-C-T PTCH1 c.110G>A p.G37E Missense 1/24 -
4-110908944-T-C EGF c.2536T>C p.C846R Missense 17/24 -
1-158627327-G-C SPTA1 c.2745C>G p.I915M Missense 19/52 -
2-29449919-A-T ALK c.2936T>A p.V979E Missense 18/29 -
15-91292785-G-T BLM c.287G>T p.G96V Missense 3/22 -
16-9858269-G-T GRIN2A c.3132C>A p.H1044Q Missense 13/13 -
4-187630783-C-A FAT1 c.199G>T p.A67S Missense 2/27 -
7-2946433-C-A CARD11 c.3304G>T p.V1102L Missense 25/25 -
15-88678557-C-A NTRK3 c.979G>T p.G327C Missens