PMID: 36910641

Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

Frontiers in oncology
He, Ping P, Liu, Jie J, Xu, Qingyuan Q, Ma, Huaijun H, Niu, Beifang B, Huang, Gang G, Wu, Wei W
2023

1347 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-7577570-C-A TP53 c.711G>T p.M237I Missense 7/11 -
7-55259524-T-A EGFR c.2582T>A p.L861Q Missense 21/28 -
7-55242470-T-C EGFR c.2240T>C p.L747S Missense 19/28 -
13-32914814-C-T BRCA2 c.6322C>T p.R2108C Missense 11/27 -
7-55249005-G-T EGFR c.2303G>T p.S768I Missense 20/28 -
17-7577547-C-T TP53 c.734G>A p.G245D Missense 7/11 -
12-25398284-C-G KRAS c.35G>C p.G12A Missense 2/5 -
17-7577534-C-A TP53 c.747G>T p.R249S Missense 7/11 -
17-7577121-G-A TP53 c.817C>T p.R273C Missense 8/11 -
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 -
7-55241677-G-A EGFR c.2125G>A p.E709K Missense 18/28 -
5-112174669-C-G APC c.3378C>G p.S1126R Missense 16/16 -
17-7578403-C-A TP53 c.527G>T p.C176F Missense 5/11 -
17-7577539-G-A TP53 c.742C>T p.R248W Missense 7/11 -
7-55241708-G-C EGFR c.2156G>C p.G719A Missense 18/28 -
16-2130243-C-T TSC2 c.3475C>T p.R1159W Missense 30/42 -
13-32906558-T-A BRCA2 c.943T>A p.C315S Missense 10/27 -
19-15298126-G-A NOTCH3 c.1630C>T p.R544C Missense 11/33 -
17-7577548-C-T TP53 c.733G>A p.G245S Missense 7/11 -
17-7577506-C-A TP53 c.775G>T p.D259Y Missense 7/11 -
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 -
13-32914277-A-G BRCA2 c.5785A>G p.I1929V Missense 11/27 -
17-7577120-C-A TP53 c.818G>T p.R273L Missense 8/11 -
22-41573672-C-T EP300 c.5957C>T p.P1986L Missense 31/31 -
22-29121242-G-A CHEK2 c.433C>T p.R145W Missense 3/15 -
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 -
17-7577550-C-T TP53 c.731G>A p.G244D Missense 7/11 -
7-55259434-G-A EGFR c.2492G>A p.R831H Missense 21/28 -
17-7578263-G-A TP53 c.586C>T p.R196* Nonsense 6/11 -
7-116339770-T-G MET c.632T>G p.L211W Missense 2/21 -
6-162206876-A-G PRKN c.799T>C p.Y267H Missense 7/12 -
17-7577106-G-A TP53 c.832C>T p.P278S Missense 8/11 -
17-7577548-C-A TP53 c.733G>T p.G245C Missense 7/11 -
7-55268884-G-A EGFR c.2950G>A p.D984N Missense 25/28 -
11-108098555-A-G ATM c.125A>G p.H42R Missense 3/63 -
12-49434689-C-A KMT2D c.6864G>T p.K2288N Missense 32/55 -
2-48030639-AC-A MSH6 c.3261delC p.F1088Sfs*2 Frameshift 5/10 -
12-49444829-C-A KMT2D c.2637G>T p.E879D Missense 11/55 -
7-81350103-A-C HGF c.1229T>G p.L410R Missense 10/18 -
10-123324028-T-C FGFR2 c.442A>G p.S148G Missense 4/18 -
17-7579705-C-T TP53 c.91G>A p.V31I Missense 3/11 -
19-1221301-CG-C STK11 c.827delG p.G276Afs*11 Frameshift 6/10 -
19-10265416-G-A DNMT1 c.1678C>T p.R560C Missense 21/41 -
12-49425230-G-A KMT2D c.13258C>T p.R4420W Missense 40/55 -
12-49434507-G-A KMT2D c.7046C>T p.P2349L Missense 32/55 -
12-49434517-C-T KMT2D c.7036G>A p.G2346S Missense 32/55 -
12-49446767-C-T KMT2D c.1043G>A p.R348H Missense 9/55 -
12-49446777-G-C KMT2D c.1033C>G p.L345V Missense 9/55 -
12-49426003-C-T KMT2D c.12485G>A p.R4162Q Missense 40/55 -
22-36690220-G-A MYH9 c.3755C>T p.A1252V Missense 28/41 -
12-49427347-C-T KMT2D c.11141G>A p.R3714K Missense 40/55 -
4-1805473-G-A FGFR3 c.985G>A p.V329I Missense 8/18 -
19-10251537-A-C DNMT1 c.3443T>G p.I1148R Missense 32/41 -
7-116339988-A-G MET c.850A>G p.I284V Missense 2/21 -
15-66727455-G-T MAP2K1 c.171G>T p.K57N Missense 2/11 -
10-101595975-G-A ABCC2 c.3542G>A p.R1181Q Missense 25/32 -
7-55249007-G-T EGFR c.2305G>T p.V769L Missense 20/28 -
17-7577551-C-A TP53 c.730G>T p.G244C Missense 7/11 -
17-37868208-C-T ERBB2 c.929C>T p.S310F Missense 8/27 -
10-89685281-C-G PTEN c.176C>G p.S59* Nonsense 3/9 -
7-55249012-C-CGGT EGFR c.2310_2311insGGT p.D770_N771insG InFrameInsertion 20/28 -
7-55242465-GGAATTAAGAGAAGCAAC-AAT EGFR c.2235_2252delinsAAT p.E746_T751delinsI MultiAAMissense 19/28 -
7-55242467-AATTAAGAGAAGCAACATC-T EGFR c.2237_2255delinsT p.E746_S752delinsV MultiAAMissense 19/28 -
6-150001395-G-A LATS1 c.2209C>T p.R737* Nonsense 5/8 -
11-108224493-G-A ATM c.8672G>A p.G2891D Missense 60/63 -
16-23619239-G-A PALB2 c.3296C>T p.T1099M Missense 12/13 -
7-142460750-G-C PRSS1 c.623G>C p.G208A Missense 5/5 -
17-7578454-G-T TP53 c.476C>A p.A159D Missense 5/11 -
6-37139063-G-A PIM1 c.403G>A p.E135K Missense 4/6 -
3-47098379-C-T SETD2 c.6895G>A p.G2299R Missense 15/21 -
5-44388714-AAGC-A FGF10 c.68_70delGCT p.C23del InFrameDeletion 1/3 -
3-47103754-GTC-G SETD2 c.6190_6191delGA p.D2064Pfs*8 Frameshift 14/21 -
17-56435160-AC-A RNF43 c.1976delG p.G659Vfs*41 Frameshift 9/10 -
20-31023472-A-G ASXL1 c.2957A>G p.N986S Missense 13/13 -
13-29012441-C-T FLT1 c.430G>A p.E144K Missense 4/30 -
17-7577018-C-A TP53 c.919+1G>T - IntronicSNV - 8/10
16-67063336-G-A CBFB c.26G>A p.R9K Missense 1/6 -
5-131931451-TA-T RAD50 c.2165delA p.K722Rfs*14 Frameshift 13/25 -
10-96702012-G-A CYP2C9 c.395G>A p.R132Q Missense 3/9 -
1-27105700-C-T ARID1A c.5311C>T p.P1771S Missense 20/20 -
1-156851285-C-T NTRK1 c.2242C>T p.R748W Missense 17/17 -
5-56178098-A-G MAP3K1 c.3071A>G p.K1024R Missense 14/20 -
19-11138550-C-G SMARCA4 c.3306C>G p.F1102L Missense 24/35 -
17-7577569-A-G TP53 c.712T>C p.C238R Missense 7/11 -
17-7577099-C-A TP53 c.839G>T p.R280I Missense 8/11 -
17-7578177-C-A TP53 c.672G>T p.E224D Missense 6/11 -
2-128046943-CTCT-C ERCC3 c.789_791delAGA p.E264del InFrameDeletion 6/15 -
11-108098605-G-T ATM c.175G>T p.A59S Missense 3/63 -
8-41798419-GCTC-G KAT6A c.2977_2979delGAG p.E993del InFrameDeletion 15/17 -
8-128750604-CCAG-C MYC c.154_156delCAG p.Q52del InFrameDeletion 2/3 -
2-203395591-G-A BMPR2 c.1042G>A p.V348I Missense 8/13 -
1-46546408-G-A PIK3R3 c.121C>T p.P41S Missense 2/10 -
22-29885580-AAGGCCAAGTCCCCAGAGAAGGAAG-A NEFH c.1965_1988del24 p.E658_K665del InFrameDeletion 4/4 -
6-106536272-A-T PRDM1 c.239A>T p.E80V Missense 2/7 -
3-73114232-C-T PPP4R2 c.868C>T p.R290C Missense 8/9 -
10-43610089-C-G RET c.2041C>G p.Q681E Missense 11/20 -
20-46279836-ACAG-A NCOA3 c.3789_3791delGCA p.Q1276del InFrameDeletion 20/23 -
2-29416380-T-C ALK c.4573A>G p.K1525E Missense 29/29 -
16-89838136-T-C FANCA c.2101A>G p.K701E Missense 23/43 -
10-76781905-GGAA-G KAT6B c.3310_3312delGAA p.E1104del InFrameDeletion 16/18 -
2-29449820-G-A ALK c.3035C>T p.T1012M Missense 18/29 -
6-32548032-T-G HLA-DRB1 c.779A>C p.Q260P Missense 5/6 -
17-29653227-A-G NF1 c.5225A>G p.N1742S Missense 37/58 -
5-149512332-G-A PDGFRB c.1108C>T p.R370C Missense 7/23 -
7-151842355-T-C KMT2C c.14057A>G p.N4686S Missense 54/59 -
7-55259442-G-T EGFR c.2500G>T p.V834L Missense 21/28 -
16-2218138-C-G TRAF7 c.200C>G p.A67G Missense 4/21 -
19-41727077-C-T AXL c.335C>T p.T112M Missense 3/20 -
17-29559887-A-G NF1 c.3484A>G p.M1162V Missense 26/58 -
17-38567951-C-T TOP2A c.909G>A p.M303I Missense 8/35 -
17-29553484-C-T NF1 c.2033C>T p.P678L Missense 18/58 -
2-209113119-T-C IDH1 c.388A>G p.I130V Missense 4/10 -
1-162731077-G-A DDR2 c.932G>A p.S311N Missense 9/18 -
16-23646208-G-T PALB2 c.1659C>A p.H553Q Missense 4/13 -
12-133256117-G-A POLE c.544C>T p.H182Y Missense 6/49 -
16-23649269-G-A PALB2 c.113C>T p.A38V Missense 3/13 -
1-156845315-C-T NTRK1 c.1358C>T p.P453L Missense 12/17 -
12-56487317-G-A ERBB3 c.1463G>A p.R488Q Missense 12/28 -
16-3900336-C-T CREBBP c.760G>A p.A254T Missense 2/31 -
7-55259560-G-A EGFR c.2618G>A p.G873E Missense 21/28 -
3-47163843-C-T SETD2 c.2283G>A p.M761I Missense 3/21 -
13-32929042-C-G BRCA2 c.7052C>G p.A2351G Missense 14/27 -
16-2220713-CGAG-C TRAF7 c.343_345delGAG p.E115del InFrameDeletion 5/21 -
9-101909965-T-C TGFBR1 c.1285T>C p.Y429H Missense 8/9 -
8-90965508-G-T NBN c.1809C>A p.F603L Missense 11/16 -
11-108098564-G-A ATM c.134G>A p.R45Q Missense 3/63 -
13-32907183-A-G BRCA2 c.1568A>G p.H523R Missense 10/27 -
22-29091846-G-A CHEK2 c.1111C>T p.H371Y Missense 11/15 -
22-29083920-T-C CHEK2 c.1597A>G p.T533A Missense 15/15 -
22-29090043-C-T CHEK2 c.1438G>A p.A480T Missense 13/15 -
1-11272529-G-A MTOR c.3401C>T p.A1134V Missense 23/58 -
16-23646813-C-G PALB2 c.1054G>C p.E352Q Missense 4/13 -
11-119156088-C-T CBL c.1753C>T p.R585C Missense 11/16 -
17-7578496-A-T TP53 c.434T>A p.L145Q Missense 5/11 -
3-37053562-C-T MLH1 c.649C>T p.R217C Missense 8/19 -
17-41244585-G-A BRCA1 c.2963C>T p.S988L Missense 10/23 -
7-41729740-TTTC-T INHBA c.786_788delGAA p.K263del InFrameDeletion 3/3 -
3-37089020-C-T MLH1 c.1742C>T p.P581L Missense 16/19 -
2-47637371-A-G MSH2 c.505A>G p.I169V Missense 3/16 -
2-47698132-A-G MSH2 c.1690A>G p.T564A Missense 11/16 -
2-47705625-G-A MSH2 c.2425G>A p.E809K Missense 14/16 -
11-61205535-G-A SDHAF2 c.320G>A p.R107H Missense 3/4 -
3-49723321-AGCGCTG-A MST1 c.1216_1221delCAGCGC p.Q406_R407del InFrameDeletion 10/18 -
19-1220707-G-T STK11 c.725G>T p.G242V Missense 5/10 -
9-80537095-G-T GNAQ c.303C>A p.Y101* Nonsense 2/7 -
11-119149377-G-A CBL c.1385G>A p.R462Q Missense 9/16 -
1-226595617-G-C PARP1 c.14C>G p.S5W Missense 1/23 -
X-66765161-A-T AR c.173A>T p.Q58L Missense 1/8 -
6-26056053-C-T H1-2 c.604G>A p.V202I Missense 1/1 -
2-48026217-G-T MSH6 c.1095G>T p.W365C Missense 4/10 -
19-11141507-G-T SMARCA4 c.3484G>T p.G1162C Missense 25/35 -
17-40379552-G-A STAT5B c.280C>T p.L94F Missense 3/19 -
9-139396503-C-T NOTCH1 c.5422G>A p.D1808N Missense 29/34 -
2-212495294-T-A ERBB4 c.1972A>T p.I658F Missense 17/28 -
7-151874147-CT-C KMT2C c.8390delA p.K2797Rfs*26 Frameshift 38/59 -
5-176518103-C-T FGFR4 c.601C>T p.R201W Missense 5/18 -
3-30691871-G-GA TGFBR2 c.383_383dupA p.P129Afs*3 Frameshift 3/7 -
19-4090636-C-T MAP2K2 c.1163G>A p.R388Q Missense 11/11 -
19-1207064-TG-T STK11 c.157delG p.D53Tfs*11 Frameshift 1/10 -
15-93545433-G-GA CHD2 c.4173_4173dupA p.Q1392Tfs*17 Frameshift 33/39 -
5-180045911-G-A FLT4 c.2860C>T p.P954S Missense 21/30 -
19-1207054-A-T STK11 c.142A>T p.K48* Nonsense 1/10 -
2-209113210-T-C IDH1 c.297A>G p.I99M Missense 4/10 -
2-48033920-A-C MSH6 c.4004A>C p.E1335A Missense 10/10 -
19-1220715-C-T STK11 c.733C>T p.L245F Missense 5/10 -
3-189607233-A-G TP63 c.1612A>G p.T538A Missense 12/14 -
1-85736510-AT-A BCL10 c.136delA p.I46Yfs*24 Frameshift 2/3 -
9-21968732-G-A CDKN2A c.458-491C>T - IntronicSNV - 2/2
17-41243952-G-A BRCA1 c.3596C>T p.A1199V Missense 10/23 -
3-134968200-C-T EPHB1 c.2713C>T p.R905C Missense 15/16 -
9-98231061-G-A PTCH1 c.2222C>T p.A741V Missense 14/24 -
16-16276741-G-A ABCC6 c.1990C>T p.P664S Missense 16/31 -
19-17942173-G-A JAK3 c.2842C>T p.R948C Missense 21/24 -
17-33428027-A-T RAD51D c.932T>A p.I311N Missense 10/10 -
14-81563048-C-T TSHR c.611C>T p.A204V Missense 7/10 -
17-37864776-G-A ERBB2 c.428G>A p.R143Q Missense 3/27 -
15-88799324-C-A NTRK3 c.61G>T p.V21F Missense 3/20 -
17-7579882-C-T TP53 c.31G>A p.E11K Missense 2/11 -
2-203421006-G-A BMPR2 c.2618G>A p.R873Q Missense 12/13 -
6-106554373-A-G PRDM1 c.1901A>G p.Q634R Missense 6/7 -
16-341266-C-T AXIN1 c.2218G>A p.A740T Missense 9/11 -
6-134583262-T-A SGK1 c.94A>T p.M32L Missense 2/14 -
17-33428245-G-A RAD51D c.878C>T p.A293V Missense 9/10 -
17-59924502-T-C BRIP1 c.587A>G p.N196S Missense 6/20 -
17-59878736-G-A BRIP1 c.1018C>T p.L340F Missense 8/20 -
17-59870989-C-T BRIP1 c.1442G>A p.G481D Missense 10/20 -
7-6017269-G-A PMS2 c.2395C>T p.R799W Missense 14/15 -
20-54961562-G-A AURKA c.70C>T p.R24C Missense 3/9 -
1-36941179-G-C CSF3R c.160C>G p.H54D Missense 4/17 -
X-76931741-GTCA-G ATRX c.3786_3788delTGA p.D1264del InFrameDeletion 10/35 -
12-21628620-T-C RECQL c.1088A>G p.N363S Missense 9/15 -
12-21626550-T-C RECQL c.1382A>G p.H461R Missense 12/15 -
19-15281582-A-T NOTCH3 c.4791T>A p.N1597K Missense 26/33 -
11-125503112-G-A CHEK1 c.479G>A p.R160H Missense 6/13 -
17-7578218-T-G TP53 c.631A>C p.T211P Missense 6/11 -
17-46804175-C-A HOXB13 c.832G>T p.V278L Missense 2/2 -
16-23641001-C-G PALB2 c.2474G>C p.R825T Missense 5/13 -
5-112151233-G-C APC c.876G>C p.L292F Missense 9/16 -
19-13054393-G-A CALR c.1003G>A p.D335N Missense 8/9 -
14-81606063-G-A TSHR c.733G>A p.G245S Missense 9/10 -
12-133240977-C-T POLE c.2540G>A p.R847Q Missense 22/49 -
4-187584610-C-G FAT1 c.3423G>C p.E1141D Missense 3/27 -
9-98224163-C-T PTCH1 c.2678G>A p.R893H Missense 16/24 -
19-17945798-T-A JAK3 c.2062A>T p.I688F Missense 16/24 -
10-63850704-G-GA ARID5B c.1489_1489dupA p.I497Nfs*31 Frameshift 10/10 -
3-37070322-C-T MLH1 c.1457C>T p.S486F Missense 13/19 -
16-9858774-A-G GRIN2A c.2627T>C p.I876T Missense 13/13 -
17-37884176-C-A ERBB2 c.3647C>A p.A1216D Missense 27/27 -
15-41797609-C-T LTK c.1817G>A p.R606Q Missense 14/20 -
6-112386180-C-CA CCN6 c.624_624dupA p.S191Kfs*9 Frameshift 3/5 -
12-121432117-G-GC HNF1A c.872dupC p.G292Rfs*25 Frameshift 4/10 -
5-79970914-CA-C MSH3 c.1148delA p.K383Rfs*32 Frameshift 7/24 -
15-91304138-G-GA BLM c.1544_1544dupA p.N515Kfs*2 Frameshift 7/22 -
5-131931451-T-TA RAD50 c.2157_2157dupA p.E723Gfs*5 Frameshift 13/25 -
2-141473606-G-A LRP1B c.5959C>T p.R1987C Missense 37/91 -
17-70120403-A-G SOX9 c.1405A>G p.M469V Missense 3/3 -
4-55561861-C-T KIT c.251C>T p.T84M Missense 2/21 -
4-1980601-C-T NSD2 c.4063C>T p.R1355W Missense 22/22 -
12-120784045-C-T MSI1 c.940G>A p.G314S Missense 13/15 -
1-40366502-G-A MYCL c.496+109C>T - IntronicSNV - 1/1
13-41134072-G-A FOXO1 c.1556C>T p.P519L Missense 2/3 -
10-104375107-G-A SUFU c.1105G>A p.V369I Missense 9/12 -
12-58143021-G-A CDK4 c.763C>T p.R255C Missense 7/8 -
15-42058948-G-A MGA c.8668G>A p.V2890I Missense 24/24 -
1-32798325-AAGG-A HDAC1 c.1402_1404delGAG p.E468del InFrameDeletion 13/14 -
15-42058969-A-G MGA c.8689A>G p.I2897V Missense 24/24 -
15-42059392-C-T MGA c.9112C>T p.R3038W Missense 24/24 -
19-50138891-G-A RRAS c.599C>T p.P200L Missense 6/6 -
14-36986635-C-T NKX2-1 c.1054G>A p.G352S Missense 3/3 -
3-149245654-T-G WWTR1 c.874A>C p.T292P Missense 5/7 -
19-11032327-C-T CARM1 c.1721C>T p.T574M Missense 16/16 -
16-9857047-G-A GRIN2A c.4354C>T p.R1452C Missense 13/13 -
17-30326014-A-C SUZ12 c.2212A>C p.K738Q Missense 16/16 -
2-29416431-C-T ALK c.4522G>A p.G1508S Missense 29/29 -
17-37687514-G-A CDK12 c.4418G>A p.R1473Q Missense 14/14 -
22-29885644-C-A NEFH c.2015C>A p.A672E Missense 4/4 -
22-41574794-A-G EP300 c.7079A>G p.E2360G Missense 31/31 -
3-149245702-G-C WWTR1 c.826C>G p.Q276E Missense 5/7 -
19-13054704-G-A CALR c.1231G>A p.G411S Missense 9/9 -
22-29885638-T-A NEFH c.2009T>A p.V670E Missense 4/4 -
22-41574859-A-G EP300 c.7144A>G p.M2382V Missense 31/31 -
2-128016886-A-G ERCC3 c.2203T>C p.S735P Missense 14/15 -
6-152129480-G-A ESR1 c.433G>A p.G145S Missense 1/8 -
4-55161415-C-A PDGFRA c.3246C>A p.D1082E Missense 23/23 -
5-176722419-G-A NSD1 c.8050G>A p.A2684T Missense 23/23 -
8-32621424-G-A NRG1 c.1427G>A p.R476K Missense 12/12 -
5-44305114-T-C FGF10 c.610A>G p.M204V Missense 3/3 -
6-20488470-G-A E2F3 c.1126G>A p.A376T Missense 6/7 -
5-170832369-G-C NPM1 c.733G>C p.E245Q Missense 9/11 -
8-37699715-GAGA-G ADGRA2 c.3862_3864delAAG p.K1288del InFrameDeletion 19/19 -
19-1627417-C-T TCF3 c.307G>A p.G103S Missense 6/19 -
7-100414918-C-T EPHB4 c.1484G>A p.R495Q Missense 8/17 -
5-176638587-A-G NSD1 c.3187A>G p.T1063A Missense 5/23 -
13-103524611-G-GA ERCC5 c.2751dupA p.L918Ifs*12 Frameshift 13/15 -
5-35867500-G-A IL7R c.314G>A p.S105N Missense 3/8 -
11-17741592-A-G MYOD1 c.263A>G p.H88R Missense 1/3 -
14-81609317-T-A TSHR c.915T>A p.S305R Missense 10/10 -
4-55143618-G-A PDGFRA c.1850G>A p.R617Q Missense 13/23 -
1-228612837-G-A H3-4 c.190C>T p.R64C Missense 1/1 -
1-120539661-C-T NOTCH2 c.710G>A p.R237Q Missense 4/34 -
1-228612869-C-T HIST3H3 c.158G>A p.R53H Missense 1/1 -
1-228612939-C-T HIST3H3 c.88G>A p.A30T Missense 1/1 -
1-226553720-T-C PARP1 c.2440A>G p.I814V Missense 18/23 -
4-187549766-G-C FAT1 c.4475C>G p.T1492S Missense 8/27 -
17-7577090-C-A TP53 c.848G>T p.R283L Missense 8/11 -
9-35075738-G-C FANCG c.1157C>G p.P386R Missense 10/14 -
9-35074206-G-C FANCG c.1768C>G p.P590A Missense 14/14 -
5-131911469-G-A RAD50 c.214G>A p.V72I Missense 3/25 -
13-26975608-CCAG-C CDK8 c.1129_1131delCAG p.Q377del InFrameDeletion 12/13 -
15-91298125-G-A BLM c.1044G>A p.M348I Missense 5/22 -
2-25464430-C-T DNMT3A c.2082+1G>A - IntronicSNV - 17/22
13-32914707-C-T BRCA2 c.6215C>T p.S2072F Missense 11/27 -
19-50905089-T-C POLD1 c.371T>C p.V124A Missense 4/27 -
15-88799237-C-T NTRK3 c.148G>A p.D50N Missense 3/20 -
2-47635594-T-C MSH2 c.266T>C p.V89A Missense 2/16 -
16-2090156-C-T NTHL1 c.793G>A p.A257T Missense 5/6 -
20-52193658-C-T ZNF217 c.1645G>A p.A549T Missense 4/6 -
1-11863038-G-A MTHFR c.136C>T p.R46W Missense 2/12 -
5-37000609-C-T NIPBL c.3439C>T p.R1147* Nonsense 12/47 -
3-10116221-C-T FANCD2 c.2723C>T p.T908I Missense 29/44 -
17-62007646-T-G CD79B c.218A>C p.N73T Missense 3/6 -
6-138202223-C-T TNFAIP3 c.2140C>T p.P714S Missense 9/9 -
16-72832153-C-T ZFHX3 c.4428G>A p.M1476I Missense 9/10 -
5-180048821-C-T FLT4 c.1741G>A p.D581N Missense 13/30 -
22-41546053-A-C EP300 c.2668A>C p.T890P Missense 14/31 -
8-128750631-GC-G MYC c.173delC p.P58Rfs*60 Frameshift 2/3 -
7-148524338-G-A EZH2 c.646C>T p.R216W Missense 7/20 -
7-2979543-C-T CARD11 c.704G>A p.R235Q Missense 6/25 -
10-104597087-G-A CYP17A1 c.32C>T p.T11I Missense 1/8 -
1-241680556-C-T FH c.193G>A p.D65N Missense 2/10 -
5-233687-G-A SDHA c.991G>A p.A331T Missense 8/15 -
4-187541475-C-T FAT1 c.6265G>A p.V2089I Missense 10/27 -
9-135781505-G-C TSC1 c.1460C>G p.S487C Missense 15/23 -
5-131944381-CA-C RAD50 c.2801delA p.N934Ifs*6 Frameshift 17/25 -
16-2138319-G-A TSC2 c.5252G>A p.R1751H Missense 41/42 -
X-76918997-T-C ATRX c.3994A>G p.K1332E Missense 12/35 -
12-21644546-C-CT RECQL c.120_120dupA p.V41Sfs*14 Frameshift 3/15 -
9-128206872-C-T MAPKAP1 c.1351G>A p.A451T Missense 11/12 -
2-190719350-C-T PMS1 c.1352C>T p.T451M Missense 9/13 -
10-8100406-C-A GATA3 c.380C>A p.P127Q Missense 3/6 -
6-106553435-C-T PRDM1 c.1400C>T p.P467L Missense 5/7 -
7-151874709-C-T KMT2C c.7829G>A p.R2610Q Missense 38/59 -
12-123875223-C-T KMT5A c.179C>T p.P60L Missense 3/8 -
7-55227873-C-T EGFR c.1340C>T p.S447F Missense 12/28 -
19-36211133-G-A KMT2B c.884G>A p.R295H Missense 3/37 -
3-178927486-G-C PIK3CA c.1249G>C p.E417Q Missense 7/21 -
2-178095985-C-T NFE2L2 c.1346G>A p.R449H Missense 5/5 -
22-42526720-C-T CYP2D6 c.74G>A p.R25Q Missense 1/9 -
1-158631190-A-C SPTA1 c.2474T>G p.L825R Missense 18/52 -
6-26031885-C-G H3C2 c.404G>C p.R135T Missense 1/1 -
16-72821322-G-T ZFHX3 c.10853C>A p.P3618Q Missense 10/10 -
9-27204923-G-A TEK c.2224G>A p.G742R Missense 14/23 -
17-56440903-C-T RNF43 c.434G>A p.R145Q Missense 4/10 -
2-128051291-T-C ERCC3 c.32A>G p.K11R Missense 2/15 -
6-27839921-G-A H3C11 c.173C>T p.S58L Missense 1/1 -
3-37092035-A-G MLH1 c.2162A>G p.Y721C Missense 19/19 -
8-128751158-C-T MYC c.695C>T p.S232F Missense 2/3 -
2-29519901-C-T ALK c.1670G>A p.R557H Missense 9/29 -
17-78899254-C-T RPTOR c.2893C>T p.R965C Missense 24/34 -
10-89720738-G-T PTEN c.889G>T p.D297Y Missense 8/9 -
5-67569269-C-T PIK3R1 c.386C>T p.P129L Missense 3/16 -
1-45798308-G-A MUTYH c.544C>T p.Q182* Nonsense 8/16 -
7-151877980-A-G KMT2C c.6965T>C p.V2322A Missense 36/59 -
17-7579466-G-A TP53 c.221C>T p.A74V Missense 4/11 -
19-10610685-C-T KEAP1 c.25G>A p.G9R Missense 2/6 -
1-120056870-G-A HSD3B1 c.724G>A p.D242N Missense 4/4 -
22-29095918-C-T CHEK2 c.916G>A p.G306R Missense 9/15 -
X-47045136-C-T RBM10 c.2377C>T p.R793* Nonsense 21/24 -
19-45868176-C-T ERCC2 c.514G>A p.A172T Missense 7/23 -
14-68353784-G-A RAD51B c.619G>A p.V207M Missense 7/11 -
13-29008200-C-T FLT1 c.671G>A p.R224Q Missense 5/30 -
16-72822363-G-A ZFHX3 c.9812C>T p.T3271M Missense 10/10 -
2-141291668-G-A LRP1B c.7684C>T p.R2562C Missense 47/91 -
2-112740556-A-G MERTK c.1282A>G p.S428G Missense 8/19 -
1-16254855-A-G SPEN c.2120A>G p.E707G Missense 11/15 -
5-180058747-CG-C FLT4 c.89delC p.P30Rfs*3 Frameshift 2/30 -
10-63845621-GA-G ARID5B c.1365delA p.E456Kfs*23 Frameshift 9/10 -
1-162749975-C-T DDR2 c.2507C>T p.T836M Missense 18/18 -
11-2154241-TG-T IGF2 c.518delC p.P173Qfs*27 Frameshift 4/4 -
22-23653975-T-TCCGG BCR c.3275_3278dup p.V1094Rfs*17 Frameshift 19/23 -
3-9934760-C-G JAGN1 c.251C>G p.P84R Missense 2/2 -
2-141356360-A-C LRP1B c.7034T>G p.M2345R Missense 43/91 -
7-142651300-A-C KEL c.895T>G p.F299V Missense 8/19 -
19-35832405-T-G CD22 c.1667T>G p.L556R Missense 8/14 -
19-45867709-C-T ERCC2 c.691G>A p.V231M Missense 8/23 -
2-227659803-A-G IRS1 c.3652T>C p.S1218P Missense 1/2 -
13-26975740-TATC-T CDK8 c.1251_1253delCAT p.I417del InFrameDeletion 12/13 -
1-16258026-A-C SPEN c.5291A>C p.Q1764P Missense 11/15 -
17-40854956-G-A EZH1 c.2122C>T p.R708W Missense 20/21 -
19-54649671-CT-C CNOT3 c.729delT p.S245Afs*90 Frameshift 9/18 -
17-40489825-G-A STAT3 c.601C>T p.Q201* Nonsense 7/24 -
19-15290911-C-T NOTCH3 c.3299G>A p.R1100H Missense 20/33 -
16-89357538-C-G ANKRD11 c.280G>C p.A94P Missense 5/13 -
16-23646629-G-T PALB2 c.1238C>A p.T413K Missense 4/13 -
7-2962848-G-A CARD11 c.2060C>T p.A687V Missense 16/25 -
1-156844184-C-T NTRK1 c.1187C>T p.S396L Missense 9/17 -
16-89348713-C-T ANKRD11 c.4237G>A p.E1413K Missense 9/13 -
6-26056289-G-A H1-2 c.368C>T p.A123V Missense 1/1 -
12-133201570-T-C POLE c.6668A>G p.K2223R Missense 48/49 -
16-2103448-G-T TSC2 c.331G>T p.G111W Missense 4/42 -
2-109384469-A-G RANBP2 c.7474A>G p.T2492A Missense 20/29 -
17-33445587-C-T RAD51D c.196G>A p.V66M Missense 3/10 -
6-35423591-C-T FANCE c.316C>T p.R106W Missense 2/10 -
4-20620616-C-T SLIT2 c.4574C>T p.T1525M Missense 37/37 -
2-111881707-A-C BCL2L11 c.385A>C p.S129R Missense 2/4 -
15-38641674-G-A SPRED1 c.634G>A p.V212I Missense 6/7 -
22-24143309-G-A SMARCB1 c.500+41G>A - IntronicSNV - 4/8
17-15983379-C-G NCOR1 c.3401-1G>C - IntronicSNV - 25/45
5-121736798-G-T SNCAIP c.58-2690G>T - IntronicSNV - 2/10
17-7574034-C-G TP53 c.994-1G>C - IntronicSNV - 9/10
17-7574034-C-T TP53 c.994-1G>A - IntronicSNV - 9/10
19-11150137-A-G SMARCA4 c.4171-1846A>G - IntronicSNV - 29/34
17-17124829-G-A FLCN c.871+22C>T - IntronicSNV - 8/13
17-17124829-G-T FLCN c.871+22C>A - IntronicSNV - 8/13
3-142278091-A-G ATR c.1732+2T>C - IntronicSNV - 7/46
19-15299158-AGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGT-A NOTCH3 c.1372_1380del649 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/33 8/32
4-106158550-G-T TET2 c.3409+42G>T - IntronicSNV - 3/10
3-30664732-A-C TGFBR2 c.94+16263A>C - IntronicSNV - 1/6
6-37138299-C-T PIM1 c.1-53C>T - 5-UTRSNV 1/6 -
8-26150763-A-G PPP2R2A c.8-419A>G - IntronicSNV - 1/9
1-179087721-C-A ABL2 c.1223+1G>T - IntronicSNV - 7/11
19-1612427-G-A TCF3 c.1823-579C>T - IntronicSNV - 18/18
16-89836265-A-T FANCA c.2484T>A p.D828E Missense 26/43 -
19-45868311-G-A ERCC2 c.466C>T p.R156* Nonsense 6/23 -
7-41729711-C-T INHBA c.818G>A p.G273D Missense 3/3 -
X-47039636-T-A RBM10 c.1088T>A p.L363Q Missense 11/24 -
1-228612929-G-C H3-4 c.98C>G p.T33S Missense 1/1 -
5-180030223-C-T FLT4 c.4061G>A p.R1354H Missense 30/30 -
6-26020922-C-T H3C1 c.205C>T p.Q69* Nonsense 1/1 -
7-151860599-T-C KMT2C c.10063A>G p.I3355V Missense 43/59 -
9-128206796-T-C MAPKAP1 c.1427A>G p.N476S Missense 11/12 -
12-49433059-C-T KMT2D c.8312G>A p.R2771Q Missense 34/55 -
12-133257806-G-C POLE c.122C>G p.T41R Missense 2/49 -
13-28626691-T-C FLT3 c.605A>G p.Q202R Missense 5/24 -
16-14014063-C-A ERCC4 c.41C>A p.P14Q Missense 1/11 -
9-135797283-G-C TSC1 c.586C>G p.P196A Missense 7/23 -
1-28599212-G-T SESN2 c.658G>T p.G220W Missense 5/10 -
4-187541915-G-A FAT1 c.5825C>T p.T1942I Missense 10/27 -
6-150005674-G-C LATS1 c.551C>G p.S184C Missense 4/8 -
7-151843698-G-A KMT2C c.14017C>T p.R4673C Missense 53/59 -
11-67200905-A-T RPS6KB2 c.893A>T p.D298V Missense 10/15 -
15-91352395-G-T BLM c.3780G>T p.L1260F Missense 20/22 -
16-3639021-C-T SLX4 c.4618G>A p.E1540K Missense 12/15 -
6-150016303-T-C LATS1 c.403A>G p.I135V Missense 3/8 -
13-48916774-T-C RB1 c.304T>C p.C102R Missense 3/27 -
3-10183811-G-A VHL c.280G>A p.E94K Missense 1/3 -
5-112170769-A-G APC c.1865A>G p.Y622C Missense 15/16 -
10-63817034-G-T ARID5B c.1005G>T p.R335S Missense 6/10 -
1-2491274-G-A TNFRSF14 c.317G>A p.R106H Missense 4/8 -
1-9770518-C-T PIK3CD c.5C>T p.P2L Missense 3/24 -
1-17349159-G-A SDHB c.709C>T p.P237S Missense 7/8 -
2-112722824-G-A MERTK c.814G>A p.V272M Missense 5/19 -
3-73114061-C-T PPP4R2 c.697C>T p.P233S Missense 8/9 -
6-134583141-T-C SGK1 c.215A>G p.H72R Missense 2/14 -
4-55979488-G-A KDR c.959C>T p.T320I Missense 7/30 -
11-108139218-G-T ATM c.2720G>T p.C907F Missense 18/63 -
13-28913359-G-A FLT1 c.2434C>T p.R812W Missense 17/30 -
13-29001366-C-T FLT1 c.1366G>A p.A456T Missense 10/30 -
17-63554570-G-A AXIN2 c.169C>T p.R57W Missense 2/11 -
17-66518934-G-T PRKAR1A c.215G>T p.G72V Missense 3/11 -
1-28599295-C-A SESN2 c.741C>A p.N247K Missense 5/10 -
1-16261134-C-T SPEN c.8399C>T p.A2800V Missense 11/15 -
2-242795024-C-T PDCD1 c.185G>A p.S62N Missense 2/5 -
9-8504321-G-A PTPRD c.1762C>T p.R588C Missense 23/46 -
12-111885302-G-A SH2B3 c.1190G>A p.R397Q Missense 6/8 -
14-30046661-T-C PRKD1 c.2522A>G p.D841G Missense 18/18 -
17-40362464-T-A STAT5B c.1732A>T p.M578L Missense 14/19 -
2-141214137-A-G LRP1B c.9850T>C p.C3284R Missense 62/91 -
8-68864697-T-A PREX2 c.68T>A p.L23Q Missense 1/40 -
17-16068454-G-A NCOR1 c.457C>T p.H153Y Missense 5/46 -
22-23626222-T-C BCR c.2174T>C p.L725P Missense 9/23 -
6-151687411-T-C ZBTB2 c.790A>G p.T264A Missense 3/3 -
12-416120-C-T KDM5A c.4066G>A p.D1356N Missense 24/28 -
12-472157-G-A KDM5A c.644C>T p.P215L Missense 5/28 -
5-56167853-TCAA-T MAP3K1 c.1418_1420delCAA p.S473_I474delinsF MultiAAMissense 7/20 -
22-41513324-CTAAACATAAACA-C EP300 c.228_239del12 p.K77_Q80del InFrameDeletion 2/31 -
17-63533732-ATGG-A AXIN2 c.1419_1421delCCA p.H474del InFrameDeletion 6/11 -
5-137801673-GGCGGCAGCAACAGCA-G EGR1 c.226_240del15 p.G76_S80del InFrameDeletion 1/2 -
17-7573976-T-TA TP53 c.1050_1051insT p.K351* Nonsense 10/11 -
15-88576252-TCAC-T NTRK3 c.1418_1420delGTG p.G473del InFrameDeletion 14/20 -
5-56155726-G-A MAP3K1 c.818G>A p.R273K Missense 3/20 -
5-180046321-T-C FLT4 c.2693A>G p.K898R Missense 19/30 -
3-73114232-C-G PPP4R2 c.868C>G p.R290G Missense 8/9 -
15-43724624-A-G TP53BP1 c.3443T>C p.L1148S Missense 17/28 -
7-100405190-G-A EPHB4 c.2131C>T p.Q711* Nonsense 13/17 -
6-20481568-G-A E2F3 c.637G>A p.V213M Missense 3/7 -
7-142641420-T-A KEL c.1481A>T p.E494V Missense 13/19 -
7-151878022-G-C KMT2C c.6923C>G p.S2308C Missense 36/59 -
9-139564387-G-A EGFL7 c.335G>A p.R112Q Missense 7/11 -
11-111958583-C-G SDHD c.55C>G p.L19V Missense 2/4 -
11-119146766-C-T CBL c.929C>T p.A310V Missense 6/16 -
13-32913177-A-C BRCA2 c.4685A>C p.Q1562P Missense 11/27 -
13-49050891-C-A RB1 c.2575C>A p.L859I Missense 25/27 -
16-81957108-G-T PLCG2 c.2326G>T p.A776S Missense 22/33 -
5-80109478-T-G MSH3 c.2731T>G p.L911V Missense 20/24 -
21-36259286-C-G RUNX1 c.205G>C p.G69R Missense 4/9 -
4-187541639-G-T FAT1 c.6101C>A p.T2034N Missense 10/27 -
5-180057674-T-C FLT4 c.281A>G p.K94R Missense 3/30 -
8-38205494-G-A NSD3 c.196C>T p.L66F Missense 2/24 -
8-55371781-C-A SOX17 c.471C>A p.H157Q Missense 2/2 -
12-46244334-G-C ARID2 c.2428G>C p.A810P Missense 15/21 -
4-187628563-G-A FAT1 c.2419C>T p.L807F Missense 2/27 -
X-48650368-G-T GATA1 c.338G>T p.R113L Missense 3/6 -
2-58456972-C-T FANCL c.193G>A p.G65R Missense 3/14 -
2-141680541-C-A LRP1B c.3312G>T p.W1104C Missense 21/91 -
7-81336665-G-T HGF c.1557C>A p.C519* Nonsense 14/18 -
7-142640005-A-G KEL c.1898T>C p.L633S Missense 17/19 -
7-142649704-C-A KEL c.1095G>T p.M365I Missense 10/19 -
9-139403348-G-A NOTCH1 c.3145C>T p.Q1049* Nonsense 19/34 -
17-70120209-C-T SOX9 c.1211C>T p.P404L Missense 3/3 -
X-63410730-C-A AMER1 c.2437G>T p.D813Y Missense 2/2 -
1-16255121-A-T SPEN c.2386A>T p.T796S Missense 11/15 -
2-111881374-C-T BCL2L11 c.52C>T p.Q18* Nonsense 2/4 -
4-1905965-G-A NSD2 c.620G>A p.C207Y Missense 3/22 -
4-187539275-A-G FAT1 c.8465T>C p.L2822P Missense 10/27 -
7-152345974-A-G XRCC2 c.596T>C p.M199T Missense 3/3 -
13-21549473-G-A LATS2 c.2803C>T p.P935S Missense 8/8 -
15-43749251-T-C TP53BP1 c.1555A>G p.K519E Missense 12/28 -
18-39550376-A-T PIK3C3 c.487A>T p.T163S Missense 4/25 -
2-141242996-G-T LRP1B c.9341C>A p.S3114Y Missense 59/91 -
11-85961458-A-G EED c.235A>G p.K79E Missense 2/12 -
11-94910967-T-C SESN3 c.1163A>G p.N388S Missense 8/10 -
12-123889451-A-C KMT5A c.678A>C p.K226N Missense 7/8 -
4-187557833-T-C FAT1 c.3878A>G p.D1293G Missense 5/27 -
15-88679781-C-T NTRK3 c.682G>A p.V228I Missense 8/20 -
15-91333894-A-G BLM c.2839A>G p.I947V Missense 15/22 -
22-29095911-T-C CHEK2 c.923A>G p.E308G Missense 9/15 -
2-25467166-C-A DNMT3A c.1709G>T p.G570V Missense 15/23 -
16-23646905-A-C PALB2 c.962T>G p.L321* Nonsense 4/13 -
22-21337335-G-A LZTR1 c.220G>A p.V74M Missense 2/21 -
16-72822008-TTGC-T ZFHX3 c.10164_10166delGCA p.Q3389del InFrameDeletion 10/10 -
X-63412978-CTTGCCACCAAAGAGT-C AMER1 c.174_188del15 p.L59_K63del InFrameDeletion 2/2 -
1-72163773-CC-GA NEGR1 c.584_585delGGinsTC p.R195I Missense 4/7 -
1-16255154-C-T SPEN c.2419C>T p.R807C Missense 11/15 -
8-41845004-T-G KAT6A c.678A>C p.E226D Missense 3/17 -
1-246027147-T-G SMYD3 c.855A>C p.E285D Missense 9/12 -
6-20488374-G-A E2F3 c.1030G>A p.G344R Missense 6/7 -
6-20488374-G-C E2F3 c.1030G>C p.G344R Missense 6/7 -
15-43749236-T-C TP53BP1 c.1570A>G p.T524A Missense 12/28 -
2-227660259-G-A IRS1 c.3196C>T p.P1066S Missense 1/2 -
5-57752401-T-A PLK2 c.1172A>T p.E391V Missense 9/14 -
3-72866527-A-G SHQ1 c.736T>C p.S246P Missense 7/11 -
5-161116112-A-G GABRA6 c.383A>G p.N128S Missense 4/9 -
5-176721790-A-C NSD1 c.7421A>C p.Q2474P Missense 23/23 -
8-69129903-G-A PREX2 c.4657G>A p.G1553R Missense 38/40 -
10-63851054-C-T ARID5B c.1832C>T p.T611M Missense 10/10 -
12-50483727-G-A SMARCD1 c.832G>A p.V278M Missense 7/13 -
15-73995322-G-A CD276 c.628G>A p.V210M Missense 4/10 -
5-176637372-T-A NSD1 c.1972T>A p.S658T Missense 5/23 -
16-72993698-G-A ZFHX3 c.347C>T p.T116I Missense 2/10 -
17-37618391-C-T CDK12 c.67C>T p.P23S Missense 1/14 -
19-15272087-G-A NOTCH3 c.6352C>T p.P2118S Missense 33/33 -
X-47038888-A-G RBM10 c.895A>G p.N299D Missense 9/24 -
13-32910839-G-A BRCA2 c.2347G>A p.V783I Missense 11/27 -
7-100416166-G-C EPHB4 c.1398C>G p.D466E Missense 7/17 -
4-187584746-C-T FAT1 c.3287G>A p.R1096Q Missense 3/27 -
8-41839364-T-C KAT6A c.818A>G p.K273R Missense 4/17 -
5-39002683-T-C RICTOR c.346A>G p.I116V Missense 5/38 -
6-161771220-G-C PRKN c.1309C>G p.P437A Missense 12/12 -
7-77797349-T-A MAGI2 c.2480A>T p.Y827F Missense 15/22 -
9-27202937-C-A TEK c.2029C>A p.Q677K Missense 13/23 -
12-69968460-A-G FRS2 c.1252A>G p.T418A Missense 9/9 -
12-133226047-G-A POLE c.3850C>T p.R1284W Missense 31/49 -
13-103528245-A-G ERCC5 c.3553A>G p.K1185E Missense 15/15 -
19-41727911-C-T AXL c.536C>T p.P179L Missense 4/20 -
17-37866080-C-G ERBB2 c.589C>G p.P197A Missense 5/27 -
20-54961381-A-G AURKA c.251T>C p.V84A Missense 3/9 -
22-24145495-G-A SMARCB1 c.514G>A p.D172N Missense 5/9 -
19-41725307-C-T AXL c.10C>T p.R4W Missense 1/20 -
X-39934211-C-T BCOR c.388G>A p.E130K Missense 4/15 -
4-187584498-T-C FAT1 c.3535A>G p.T1179A Missense 3/27 -
2-141526806-C-T LRP1B c.5734G>A p.A1912T Missense 35/91 -
15-42035256-G-A MGA c.5098G>A p.V1700M Missense 15/24 -
2-141777624-G-A LRP1B c.1837C>T p.L613F Missense 12/91 -
3-156413700-A-C TIPARP c.1133A>C p.E378A Missense 4/6 -
6-35423973-G-C FANCE c.698G>C p.R233T Missense 2/10 -
1-120056718-A-T HSD3B1 c.572A>T p.Y191F Missense 4/4 -
4-55133832-T-G PDGFRA c.1045T>G p.W349G Missense 7/23 -
19-18965420-T-G UPF1 c.1167T>G p.D389E Missense 9/24 -
7-142658493-AAGG-A KEL c.174_176delCCT p.L59del InFrameDeletion 3/19 -
22-21346036-ACAACACGCTGCCCAACGAGCTGCACTG-A LZTR1 c.913_939del27 p.N305_C313del InFrameDeletion 9/21 -
19-41748890-TCCA-T AXL c.1418_1420delACC p.H473del InFrameDeletion 11/20 -
7-55210118-TTTCCTTCTTAAA-T EGFR c.228_239del12 p.S77_K80del SpliceDonorDeletion 2/28 -
7-55210072-T-TGCAGCA EGFR c.182_183insGCAGCA p.V61_L62insQH InFrameInsertion 2/28 -
17-62007623-CCTG-C CD79B c.238_240delCAG p.Q80del InFrameDeletion 3/6 -
17-16024381-G-A NCOR1 c.1837C>T p.P613S Missense 16/46 -
X-47040781-AGGG-A RBM10 c.1418_1420delGGG p.G473del InFrameDeletion 13/24 -
2-109357057-A-G RANBP2 c.895A>G p.K299E Missense 7/29 -
15-73996332-G-A CD276 c.1066G>A p.V356M Missense 5/10 -
15-73996332-G-C CD276 c.1066G>C p.V356L Missense 5/10 -
3-72428487-C-T RYBP c.433G>A p.V145I missense_variant 2/4 -
17-17965216-G-A GID4 c.766G>A p.G256R Missense 5/6 -
X-47044845-C-A RBM10 c.2171C>A p.P724H Missense 20/24 -
X-47041648-G-T RBM10 c.1873G>T p.G625* Nonsense 17/24 -
3-47061265-T-G SETD2 c.7416A>C p.E2472D Missense 19/21 -
4-55136880-C-A PDGFRA c.1202C>A p.A401D Missense 8/23 -
4-187540634-G-A FAT1 c.7106C>T p.T2369M Missense 10/27 -
6-134492047-T-C SGK1 c.1330A>G p.I444V Missense 13/14 -
8-145739467-G-A RECQL4 c.1903C>T p.H635Y Missense 12/22 -
11-100998657-G-A PGR c.1145C>T p.P382L Missense 1/8 -
13-103515168-G-A ERCC5 c.1669G>A p.D557N Missense 8/15 -
19-4099265-C-T MAP2K2 c.853G>A p.D285N Missense 7/11 -
20-57478734-T-G GNAS c.320T>G p.V107G Missense 5/13 -
19-10262196-C-G DNMT1 c.2143G>C p.A715P Missense 24/41 -
19-50140175-T-A RRAS c.250A>T p.T84S Missense 3/6 -
8-145739869-T-C RECQL4 c.1661A>G p.H554R Missense 10/22 -
11-100998685-C-T PGR c.1117G>A p.A373T Missense 1/8 -
12-111885999-C-T SH2B3 c.1621C>T p.H541Y Missense 8/8 -
16-3828751-C-A CREBBP c.1891G>T p.A631S Missense 9/31 -
17-16029465-G-C NCOR1 c.1565C>G p.A522G Missense 15/46 -
19-5223251-C-T PTPRS c.2552G>A p.R851H Missense 18/38 -
20-46251047-A-G NCOA3 c.56A>G p.K19R Missense 3/23 -
16-72830355-T-C ZFHX3 c.6226A>G p.I2076V Missense 9/10 -
11-108126971-T-G ATM c.2154T>G p.C718W Missense 14/63 -
20-57478743-T-A GNAS c.329T>A p.M110K Missense 5/13 -
19-10602845-C-T KEAP1 c.733G>A p.V245I Missense 3/6 -
6-26056410-C-G H1-2 c.247G>C p.G83R Missense 1/1 -
2-141819811-C-T LRP1B c.1045G>A p.A349T Missense 8/91 -
7-151877813-T-C KMT2C c.7132A>G p.T2378A Missense 36/59 -
9-8636826-C-A PTPRD c.83G>T p.R28L Missense 13/46 -
13-21557391-C-A LATS2 c.2454G>T p.W818C Missense 5/8 -
15-91308640-T-A BLM c.2189T>A p.L730* Nonsense 9/22 -
17-46804391-G-T HOXB13 c.616C>A p.H206N Missense 2/2 -
19-10602760-C-T KEAP1 c.818G>A p.C273Y Missense 3/6 -
1-162742033-G-A DDR2 c.1724G>A p.G575E Missense 13/18 -
1-226568835-T-C PARP1 c.1234A>G p.I412V Missense 9/23 -
2-58392880-T-C FANCL c.670A>G p.T224A Missense 8/14 -
2-109384800-C-T RANBP2 c.7805C>T p.T2602M Missense 20/29 -
2-109347264-G-T RANBP2 c.175G>T p.D59Y Missense 3/29 -
9-139564131-G-A EGFL7 c.271G>A p.G91S Missense 6/11 -
12-21628504-C-T RECQL c.1114G>A p.V372I Missense 10/15 -
12-56491590-C-T ERBB3 c.2482C>T p.H828Y Missense 21/28 -
1-158581148-G-T SPTA1 c.7166C>A p.A2389D Missense 52/52 -
2-225370710-A-T CUL3 c.1169T>A p.L390* Nonsense 8/16 -
18-19751694-A-C GATA6 c.589A>C p.M197L Missense 2/7 -
7-86415875-A-T GRM3 c.767A>T p.Y256F Missense 3/6 -
17-63533618-C-A AXIN2 c.1536G>T p.K512N Missense 6/11 -
11-108121610-A-C ATM c.1418A>C p.E473A Missense 10/63 -
1-40366656-G-A MYCL c.451C>T p.P151S Missense 1/2 -
2-39262577-C-T SOS1 c.929G>A p.R310H Missense 7/23 -
5-79950739-G-C MSH3 c.193G>C p.A65P Missense 1/24 -
5-161116274-C-A GABRA6 c.461C>A p.A154D Missense 5/9 -
4-187517748-A-T FAT1 c.12946T>A p.S4316T Missense 25/27 -
2-109371654-G-A RANBP2 c.2405G>A p.R802Q Missense 17/29 -
2-128036890-C-T ERCC3 c.1589G>A p.R530Q Missense 10/15 -
X-63412570-C-A AMER1 c.597G>T p.R199S Missense 2/2 -
2-227661057-A-G IRS1 c.2398T>C p.Y800H Missense 1/2 -
2-227663105-G-A IRS1 c.350C>T p.A117V Missense 1/2 -
7-2968298-A-T CARD11 c.1688T>A p.I563N Missense 13/25 -
11-118360946-G-A KMT2A c.4678G>A p.A1560T Missense 13/36 -
13-73349353-C-T DIS3 c.983G>A p.R328Q Missense 6/21 -
16-30128020-C-T MAPK3 c.1109G>A p.R370H Missense 8/9 -
11-32456484-AGGC-A WT1 c.405_407delGCC p.P141del InFrameDeletion 1/10 -
1-27023144-GGCGGCGGCGGAGCCGGCA-G ARID1A c.261_278del18 p.A88_G93del InFrameDeletion 1/20 -
3-149260193-TCTG-T WWTR1 c.697_699delCAG p.Q233del InFrameDeletion 4/7 -
2-30143176-G-A ALK c.350C>T p.P117L Missense 1/29 -
2-109352078-C-T RANBP2 c.496C>T p.H166Y Missense 5/29 -
1-156837904-C-T NTRK1 c.437C>T p.S146L Missense 5/17 -
2-225371576-T-C CUL3 c.1028A>G p.Q343R Missense 7/16 -
12-56481805-G-A ERBB3 c.733G>A p.A245T Missense 7/28 -
1-162743380-A-G DDR2 c.1850A>G p.N617S Missense 14/18 -
11-64135956-A-G RPS6KA4 c.1217A>G p.Q406R Missense 11/17 -
3-73113180-C-T PPP4R2 c.521C>T p.P174L Missense 7/9 -
6-20488470-G-T E2F3 c.1126G>T p.A376S Missense 6/7 -
17-17118350-G-A FLCN c.1487C>T p.S496F Missense 13/14 -
16-89838116-G-T FANCA c.2121C>A p.N707K Missense 23/43 -
4-55964435-T-C KDR c.2378A>G p.N793S Missense 17/30 -
17-56448309-C-T RNF43 c.338G>A p.R113Q Missense 3/10 -
20-50408232-T-C SALL4 c.790A>G p.M264V Missense 2/4 -
11-9595749-A-G WEE1 c.269A>G p.E90G Missense 1/11 -
18-48584825-C-G SMAD4 c.903C>G p.Y301* Nonsense 7/12 -
2-111431788-C-T BUB1 c.100G>A p.V34I Missense 3/25 -
1-162731124-G-A DDR2 c.979G>A p.V327I Missense 9/18 -
22-41566480-C-T EP300 c.4357C>T p.P1453S Missense 27/31 -
8-27634207-G-A ESCO2 c.382G>A p.G128R Missense 3/11 -
6-152419991-G-A ESR1 c.1678G>A p.V560M Missense 8/8 -
3-47165816-G-T SETD2 c.310C>A p.P104T Missense 3/21 -
16-3651028-C-T SLX4 c.1115G>A p.R372Q Missense 5/15 -
8-55371882-G-T SOX17 c.572G>T p.G191V Missense 2/2 -
10-76781905-GGAAGAA-G KAT6B c.3307_3312delGAAGAA p.E1103_E1104del InFrameDeletion 16/18 -
1-158606499-C-T SPTA1 c.5242G>A p.V1748I Missense 37/52 -
2-227660487-T-C IRS1 c.2968A>G p.M990V Missense 1/2 -
5-112177922-G-A APC c.6631G>A p.G2211S Missense 16/16 -
20-54961408-T-G AURKA c.224A>C p.K75T Missense 3/9 -
1-7737712-T-G CAMTA1 c.2833T>G p.S945A Missense 11/23 -
22-41533700-A-G EP300 c.1666A>G p.M556V Missense 8/31 -
20-54945677-G-A AURKA c.893C>T p.P298L Missense 8/9 -
7-13946197-T-C ETV1 c.968A>G p.Y323C Missense 12/14 -
5-176637243-T-G NSD1 c.1843T>G p.C615G Missense 5/23 -
10-32311107-C-A KIF5B c.1993G>T p.D665Y Missense 17/26 -
6-43550160-C-T POLH c.104C>T p.A35V Missense 2/11 -
5-38952520-C-T RICTOR c.2905G>A p.V969I Missense 30/38 -
17-58725406-C-G PPM1D c.980C>G p.S327* Nonsense 4/6 -
2-216296629-A-C FN1 c.474T>G p.H158Q Missense 4/46 -
1-22176542-G-A HSPG2 c.7438C>T p.R2480W Missense 57/97 -
5-176517812-G-A FGFR4 c.422G>A p.S141N Missense 4/18 -
8-103289337-T-A UBR5 c.6372A>T p.E2124D Missense 45/59 -
8-145738801-C-T RECQL4 c.2264G>A p.R755Q Missense 14/22 -
13-32890608-G-C BRCA2 c.11G>C p.G4A Missense 2/27 -
22-30035184-C-T NF2 c.346C>T p.H116Y Missense 3/16 -
17-7579446-TAGG-T TP53 c.238_240delCCT p.P80del InFrameDeletion 4/11 -
18-48603117-GGAT-G SMAD4 c.1418_1420delGAT p.G473_S474delinsA MultiAAMissense 11/12 -
X-70360623-ACAG-A MED12 c.6198_6200delGCA p.Q2076del InFrameDeletion 42/45 -
5-37063924-TGAA-T NIPBL c.7907_7909delAAG p.E2636del InFrameDeletion 46/47 -
2-96919780-ATGC-A TMEM127 c.480_482delGCA p.Q160del InFrameDeletion 4/4 -
12-49426753-AGTTGCT-A KMT2D c.11729_11734delAGCAAC p.Q3910_Q3911del InFrameDeletion 40/55 -
20-57478616-AAAC-A GNAS c.292_294delAAC p.N98del InFrameDeletion 4/13 -
22-23596120-GGCAGCC-G BCR c.1416_1421delCAGCCG p.S473_R474del InFrameDeletion 2/23 -
8-128752807-A-G MYC c.968A>G p.N323S Missense 3/3 -
1-22222420-CTGG-C HSPG2 c.237_239delCCA p.F79_Q80delinsL MultiAAMissense 3/97 -
10-76729508-GCCT-G KAT6B c.821_823delCCT p.A274_C275delinsG MultiAAMissense 5/18 -
11-103128425-G-A DYNC2H1 c.10550G>A p.R3517H Missense 69/89 -
1-25229100-G-A RUNX3 c.761C>T p.T254M Missense 5/5 -
1-25229100-G-C RUNX3 c.761C>G p.T254R Missense 5/5 -
19-3532641-A-G FZR1 c.1235A>G p.N412S Missense 11/14 -
6-137528167-T-C IFNGR1 c.133A>G p.I45V Missense 2/7 -
11-108106462-A-G ATM c.397A>G p.N133D Missense 5/63 -
19-2226490-G-A DOT1L c.3970G>A p.A1324T Missense 27/28 -
6-26056197-T-C H1-2 c.460A>G p.T154A Missense 1/1 -
2-109381529-G-T RANBP2 c.4534G>T p.A1512S Missense 20/29 -
21-42866388-A-C TMPRSS2 c.133T>G p.Y45D Missense 3/14 -
2-58392939-A-T FANCL c.611T>A p.M204K Missense 8/14 -
3-49927997-T-A MST1R c.3731A>T p.H1244L Missense 18/20 -
7-55221750-C-G EGFR c.794C>G p.P265R Missense 7/28 -
X-63412839-C-T AMER1 c.328G>A p.V110I Missense 2/2 -
3-10116292-G-T FANCD2 c.2794G>T p.V932F Missense 29/44 -
8-90993741-T-C NBN c.182A>G p.D61G Missense 3/16 -
10-63845597-C-T ARID5B c.1336C>T p.H446Y Missense 9/10 -
15-42042493-A-G MGA c.6688A>G p.I2230V Missense 17/24 -
15-73994770-A-G CD276 c.254A>G p.Q85R Missense 3/10 -
16-14029153-A-G ERCC4 c.1364A>G p.K455R Missense 8/11 -
17-17942830-C-T GID4 c.52C>T p.P18S Missense 1/6 -
X-47028847-C-T RBM10 c.151C>T p.Q51* Nonsense 3/24 -
3-156421304-A-C TIPARP c.1339A>C p.N447H Missense 5/6 -
6-134492280-C-T SGK1 c.1204G>A p.D402N Missense 12/14 -
7-151846114-A-G KMT2C c.12898T>C p.S4300P Missense 52/59 -
8-145737580-G-A RECQL4 c.3184C>T p.R1062W Missense 19/22 -
11-22647274-G-C FANCF c.83C>G p.P28R Missense 1/1 -
17-78914341-G-A RPTOR c.2965G>A p.E989K Missense 25/34 -
21-45649954-G-A ICOSLG c.881C>T p.P294L Missense 6/7 -
12-49438033-C-G KMT2D c.5138G>C p.G1713A Missense 22/55 -
1-17355193-T-A SDHB c.325A>T p.N109Y Missense 4/8 -
4-1932441-C-T NSD2 c.1499C>T p.A500V Missense 6/22 -
7-81350116-T-G HGF c.1216A>C p.T406P Missense 10/18 -
1-28599897-C-T SESN2 c.779C>T p.A260V Missense 6/10 -
1-43804956-C-T MPL c.406C>T p.P136S Missense 4/12 -
1-120548096-G-C NOTCH2 c.271C>G p.R91G Missense 3/34 -
15-43748365-C-A TP53BP1 c.2441G>T p.S814I Missense 12/28 -
2-29541235-C-T ALK c.1582G>A p.A528T Missense 8/29 -
7-2984019-C-T CARD11 c.511G>A p.V171M Missense 5/25 -
8-37697076-C-T ADGRA2 c.2447C>T p.A816V Missense 16/19 -
16-89347486-C-T ANKRD11 c.5464G>A p.D1822N Missense 9/13 -
19-36211552-C-G KMT2B c.1303C>G p.P435A Missense 3/37 -
X-70601761-T-A TAF1 c.1589T>A p.L510H Missense 9/38 -
1-43803899-C-T MPL c.209C>T p.P70L Missense 2/12 -
1-158632656-C-T SPTA1 c.2300G>A p.R767K Missense 17/52 -
6-20402746-G-T E2F3 c.283G>T p.A95S Missense 1/7 -
9-8465633-C-A PTPRD c.3547G>T p.G1183W Missense 32/46 -
17-29527483-G-T NF1 c.932G>T p.G311V Missense 9/58 -
19-17953253-G-C JAK3 c.733C>G p.L245V Missense 6/24 -
1-158648261-G-A SPTA1 c.742C>T p.R248C Missense 6/52 -
9-8485851-G-A PTPRD c.2966C>T p.T989I Missense 28/46 -
6-149997769-G-A LATS1 c.2698C>T p.R900C Missense 6/8 -
7-6022456-C-T PMS2 c.2173G>A p.A725T Missense 12/15 -
8-145737580-G-C RECQL4 c.3184C>G p.R1062G Missense 19/22 -
7-151848636-C-T KMT2C c.12557G>A p.G4186D Missense 50/59 -
9-139794069-C-T TRAF2 c.212C>T p.A71V Missense 3/11 -
16-3640215-A-G SLX4 c.3424T>C p.S1142P Missense 12/15 -
19-18943209-G-T UPF1 c.191G>T p.G64V Missense 1/24 -
20-46279830-GCAGCAA-G NCOA3 c.3762_3767delACAGCA p.Q1275_Q1276del InFrameDeletion 20/23 -
7-151845153-ATGGCCTTGTTCC-A KMT2C c.13848_13859del12 p.Q4618_E4621del InFrameDeletion 52/59 -
19-15289635-CTGGGCA-C NOTCH3 c.3831_3836delTGCCCA p.C1277_Q1279delinsW SpliceDonorDeletion 23/33 -
20-46266441-G-A NCOA3 c.2426G>A p.S809N Missense 13/23 -
17-17965244-C-G GID4 c.794C>G p.S265* Nonsense 5/6 -
15-41988548-C-T MGA c.1340C>T p.P447L Missense 3/24 -
X-39911390-C-G BCOR c.5240G>C p.S1747T Missense 15/15 -
15-43748365-C-T TP53BP1 c.2441G>A p.S814N Missense 12/28 -
17-78931492-G-A RPTOR c.3439G>A p.V1147I Missense 29/34 -
17-63533865-C-T AXIN2 c.1289G>A p.S430N Missense 6/11 -
15-91354582-C-T BLM c.4022C>T p.A1341V Missense 21/22 -
1-98058883-G-A DPYD c.1019C>T p.A340V Missense 10/23 -
11-44129444-G-A EXT2 c.182G>A p.R61H Missense 2/14 -
1-22150672-G-A HSPG2 c.12841C>T p.R4281C Missense 95/97 -
14-75514070-C-A MLH3 c.2289G>T p.K763N Missense 2/13 -
8-96057801-G-T NDUFAF6 c.506G>T p.R169L Missense 5/9 -
22-41543949-C-T EP300 c.2240C>T p.P747L Missense 12/31 -
3-37042462-T-C MLH1 c.224T>C p.I75T Missense 3/19 -
16-3658668-T-C SLX4 c.298A>G p.T100A Missense 2/15 -
17-40948193-G-C WNK4 c.3484G>C p.D1162H Missense 17/19 -
8-41790541-C-A KAT6A c.5197G>T p.E1733* Nonsense 17/17 -
12-49445821-A-T KMT2D c.1645T>A p.F549I Missense 11/55 -
14-68878231-C-G RAD51B c.944C>G p.S315* Nonsense 9/11 -
1-158626443-G-T SPTA1 c.2809C>A p.L937I Missense 20/52 -
2-17955667-C-T GEN1 c.1201C>T p.R401* Nonsense 11/14 -
17-46805405-C-A HOXB13 c.551G>T p.C184F Missense 1/2 -
5-131927015-C-G RAD50 c.1552C>G p.L518V Missense 10/25 -
1-22204732-G-A HSPG2 c.2632C>T p.R878C Missense 21/97 -
7-103207075-C-T RELN c.4720G>A p.A1574T Missense 32/65 -
1-182555531-C-G RNASEL c.411G>C p.K137N Missense 2/7 -
14-81610468-T-G TSHR c.2066T>G p.V689G Missense 10/10 -
10-31750149-A-G ZEB1 c.242A>G p.N81S Missense 2/9 -
2-141945994-C-G LRP1B c.1009G>C p.A337P Missense 7/91 -
7-103202089-C-T RELN c.5419G>A p.D1807N Missense 36/65 -
8-41798955-T-C KAT6A c.2444A>G p.K815R Missense 15/17 -
3-128628975-C-A ACAD9 c.1675C>A p.R559S Missense 16/18 -
2-128044317-C-A ERCC3 c.1304G>T p.W435L Missense 8/15 -
16-89815141-C-T FANCA c.3274G>A p.G1092S Missense 33/43 -
9-86592621-T-C HNRNPK c.139A>G p.I47V Missense 4/17 -
18-53128314-C-T TCF4 c.240G>A p.M80I Missense 5/20 -
10-76789182-A-C KAT6B c.4600A>C p.T1534P Missense 18/18 -
16-16251549-C-T ABCC6 c.3853G>A p.V1285M Missense 27/31 -
1-179100604-C-T ABL2 c.233G>A p.R78H Missense 3/12 -
1-22176880-T-C HSPG2 c.7270A>G p.I2424V Missense 56/97 -
8-41906092-A-C KAT6A c.404T>G p.F135C Missense 2/17 -
19-11151986-A-G SMARCA4 c.4174A>G p.I1392V Missense 30/35 -
1-193119450-C-G CDC73 c.845C>G p.T282S Missense 9/17 -
1-27023450-AGCG-A ARID1A c.567_569delCGG p.G191del InFrameDeletion 1/20 -
3-128627857-GTTGGCCGGAGGCTTCGGGACT-G ACAD9 c.1400_1420del21 p.V467_S474delinsA MultiAAMissense 14/18 -
3-128603564-CCGTGGAAAAATTCTTCACTGA-C ACAD9 c.219_239del21 p.V74_E80del InFrameDeletion 2/18 -
12-25380217-CACA-C KRAS c.238_240delTGT p.C80del InFrameDeletion 3/5 -
1-27023140-TGGC-T ARID1A c.258_260delCGG p.G87del InFrameDeletion 1/20 -
17-42940135-TC-AA EFTUD2 c.1552_1553delinsTT p.D518F Missense 16/28 -
17-63554515-A-G AXIN2 c.224T>C p.L75P Missense 2/11 -
2-47641532-C-G MSH2 c.917C>G p.A306G Missense 5/16 -
20-40710573-G-C PTPRT c.4221C>G p.F1407L Missense 30/31 -
19-50919693-C-T POLD1 c.2861C>T p.T954M Missense 23/27 -
7-55223550-C-G EGFR c.917C>G p.S306W Missense 8/28 -
2-111425146-C-G BUB1 c.757G>C p.E253Q Missense 8/25 -
1-28595739-G-A SESN2 c.136G>A p.A46T Missense 2/10 -
1-156834527-G-A NTRK1 c.295G>A p.V99M Missense 3/17 -
2-178096105-G-A NFE2L2 c.1226C>T p.P409L Missense 5/5 -
5-180045875-G-A FLT4 c.2896C>T p.L966F Missense 21/30 -
9-139564629-G-A EGFL7 c.418G>A p.E140K Missense 8/11 -
11-119156011-G-A CBL c.1676G>A p.R559Q Missense 11/16 -
6-149997819-G-C LATS1 c.2648C>G p.S883* Nonsense 6/8 -
11-71948538-G-T INPPL1 c.3250G>T p.E1084* Nonsense 26/28 -
2-25982385-C-T ASXL2 c.905G>A p.R302Q Missense 9/13 -
2-141771224-T-C LRP1B c.2281A>G p.I761V Missense 14/91 -
10-63852760-T-C ARID5B c.3538T>C p.S1180P Missense 10/10 -
11-102199650-C-A BIRC3 c.1055C>A p.P352Q Missense 5/9 -
17-38568013-C-T TOP2A c.847G>A p.G283S Missense 8/35 -
19-5212381-G-A PTPRS c.4736C>T p.P1579L Missense 31/38 -
19-5273546-G-C PTPRS c.286C>G p.L96V Missense 4/38 -
13-103514062-A-T ERCC5 c.878A>T p.K293I Missense 7/15 -
13-110435328-G-C IRS2 c.3073C>G p.P1025A Missense 1/2 -
12-49445351-TGAGTCCTCAGGTGGTGGGGATGTGGGG-T KMT2D c.2088_2114del27 p.T698_P706del InFrameDeletion 11/55 -
6-20402833-AGCG-A E2F3 c.385_387delGGC p.G129del InFrameDeletion 1/7 -
19-10597476-G-T KEAP1 c.1727C>A p.T576K Missense 6/6 -
14-81528545-T-C TSHR c.224T>C p.L75P Missense 2/10 -
12-111856235-C-G SH2B3 c.286C>G p.P96A Missense 2/8 -
15-43700191-G-C TP53BP1 c.5696C>G p.T1899S Missense 27/28 -
13-102378986-G-T FGF14 c.583C>A p.H195N Missense 4/5 -
1-226568883-G-C PARP1 c.1186C>G p.L396V Missense 9/23 -
2-109381471-T-G RANBP2 c.4476T>G p.N1492K Missense 20/29 -
2-227660220-G-A IRS1 c.3235C>T p.P1079S Missense 1/2 -
3-185165671-A-G MAP3K13 c.946A>G p.T316A Missense 5/14 -
3-49722469-G-C MST1 c.1598C>G p.T533S Missense 14/18 -
3-72873654-A-T SHQ1 c.648T>A p.N216K Missense 6/11 -
5-180053001-G-A FLT4 c.1289C>T p.S430F Missense 10/30 -
7-142659292-A-G KEL c.2T>C p.M1? Missense 1/19 -
12-69967885-G-A FRS2 c.677G>A p.S226N Missense 9/9 -
19-15298066-C-T NOTCH3 c.1690G>A p.A564T Missense 11/33 -
7-140449124-C-A BRAF c.1955G>T p.G652V Missense 16/18 -
3-72891463-G-T SHQ1 c.299C>A p.S100Y Missense 3/11 -
16-72821642-ACCGCCG-A ZFHX3 c.10527_10532delCGGCGG p.G3511_G3512del InFrameDeletion 10/10 -
19-15303289-GTCCTCCAGCTGA-G NOTCH3 c.228_239del12 p.Q77_D80del InFrameDeletion 3/33 -
19-15308324-C-CCTGCTG NOTCH3 c.183_184insCAGCAG p.R61_E62insQQ InFrameInsertion 2/33 -
8-117864216-C-T RAD21 c.1441G>A p.G481R Missense 11/14 -
8-117864216-C-G RAD21 c.1441G>C p.G481R Missense 11/14 -
5-131923318-GCCT-G RAD50 c.821_823delCCT p.A274_L275delinsV MultiAAMissense 6/25 -
7-151879666-T-C KMT2C c.5279A>G p.K1760R Missense 36/59 -
15-43749151-T-C TP53BP1 c.1655A>G p.D552G Missense 12/28 -
3-185184675-A-G MAP3K13 c.1567A>G p.I523V Missense 10/14 -
1-228612824-A-T HIST3H3 c.203T>A p.F68Y Missense 1/1 -
1-45798488-C-A MUTYH c.439G>T p.A147S Missense 7/16 -
1-45798488-C-G MUTYH c.439G>C p.A147P Missense 7/16 -
19-14627367-T-C DNAJB1 c.703A>G p.I235V Missense 2/3 -
17-37880984-37880985---TACGTGATGGCT ERBB2 c.2314_2325dup p.Y772_A775dup inframe_insertion 20/27 -
17-37880981-37880982---GCATACGTGATG ERBB2 c.2313_2324dup p.Y772_A775dup inframe_insertion 20/27 -
20-31024810-C-G ASXL1 c.4295C>G p.S1432C Missense 13/13 -
X-47426758-G-A ARAF c.1003G>A p.V335M Missense 10/16 -
2-109352660-C-T RANBP2 c.737C>T p.T246M Missense 6/29 -
3-12422872-A-T PPARG c.278A>T p.Q91L Missense 4/8 -
5-67576804-A-G PIK3R1 c.886A>G p.T296A Missense 7/16 -
5-176520262-C-T FGFR4 c.1181C>T p.A394V Missense 9/18 -
13-28611358-C-T FLT3 c.1273G>A p.A425T Missense 10/24 -
15-43700206-G-C TP53BP1 c.5681C>G p.S1894C Missense 27/28 -
16-347839-C-T AXIN1 c.1667G>A p.R556H Missense 6/11 -
16-3646303-G-A SLX4 c.1775C>T p.T592I Missense 8/15 -
1-158597415-C-G SPTA1 c.5664G>C p.K1888N Missense 40/52 -
2-39241945-A-T SOS1 c.1901T>A p.F634Y Missense 11/23 -
12-12022865-C-T ETV6 c.971C>T p.P324L Missense 5/8 -
14-30108013-G-C PRKD1 c.794C>G p.S265C Missense 5/18 -
X-47041720-C-T RBM10 c.1945C>T p.Q649* Nonsense 17/24 -
17-41610670-C-A ETV4 c.430G>T p.G144C Missense 7/13 -
3-142172064-G-C ATR c.7667C>G p.T2556S Missense 46/47 -
4-187549736-A-G FAT1 c.4505T>C p.L1502P Missense 8/27 -
7-14027731-T-C ETV1 c.113A>G p.D38G Missense 4/14 -
8-38162787-C-G NSD3 c.2419G>C p.D807H Missense 13/24 -
10-70405575-A-G TET1 c.3089A>G p.N1030S Missense 4/12 -
12-57864355-G-A GLI1 c.1832G>A p.R611Q Missense 12/12 -
14-95584087-T-A DICER1 c.1381A>T p.I461L Missense 9/27 -
16-3900567-T-C CREBBP c.529A>G p.M177V Missense 2/31 -
17-17119805-C-A FLCN c.1189G>T p.V397L Missense 11/14 -
17-37872185-C-G ERBB2 c.1506C>G p.D502E Missense 12/27 -
15-42041927-G-A MGA c.6122G>A p.G2041D Missense 17/24 -
16-396226-A-C AXIN1 c.800T>G p.L267R Missense 2/11 -
17-56440960-G-A RNF43 c.377C>T p.A126V Missense 4/10 -
20-46271051-A-T NCOA3 c.3175A>T p.T1059S Missense 17/23 -
1-206943179-T-G IL10 c.439A>C p.N147H Missense 4/5 -
17-15961337-G-A NCOR1 c.6052C>T p.R2018* Nonsense 39/46 -
1-201983019-G-A ELF3 c.868G>A p.E290K Missense 8/9 -
5-223642-G-A SDHA c.109G>A p.V37I Missense 2/15 -
17-29486049-GAAAAAAATTTAT-G NF1 c.228_239del12 p.E76_Y80delinsD MultiAAMissense 3/58 -
2-26022303-ACTG-A ASXL2 c.351_353delCAG p.S118del InFrameDeletion 5/13 -
15-66782894-C-A MAP2K1 c.1123C>A p.L375I Missense 11/11 -
16-81944317-G-C PLCG2 c.1926G>C p.E642D Missense 18/33 -
19-18966027-A-G UPF1 c.1520A>G p.Y507C Missense 11/24 -
20-52198735-T-C ZNF217 c.631A>G p.I211V Missense 2/6 -
X-47044721-G-T RBM10 c.2121G>T p.Q707H Missense 19/24 -
2-109382140-C-A RANBP2 c.5145C>A p.S1715R Missense 20/29 -
3-189456493-C-T TP63 c.254C>T p.A85V Missense 3/14 -
5-112174667-A-G APC c.3376A>G p.S1126G Missense 16/16 -
6-89793532-C-A PNRC1 c.601C>A p.H201N Missense 2/2 -
10-112724451-T-C SHOC2 c.335T>C p.I112T Missense 2/9 -
12-6709736-G-A CHD4 c.1027C>T p.R343C Missense 8/40 -
18-19751256-G-A GATA6 c.151G>A p.E51K Missense 2/7 -
9-8499712-T-A PTPRD c.2257A>T p.R753W Missense 25/46 -
2-128030511-T-C ERCC3 c.1757A>G p.Q586R Missense 11/15 -
4-187542461-T-C FAT1 c.5279A>G p.D1760G Missense 10/27 -
12-498170-T-C KDM5A c.88A>G p.T30A Missense 1/28 -
14-30100188-T-G PRKD1 c.1432A>C p.K478Q Missense 10/18 -
17-78858937-A-T RPTOR c.1972A>T p.M658L Missense 17/34 -
12-133233799-T-C POLE c.3505A>G p.K1169E Missense 29/49 -
7-100417341-A-G EPHB4 c.1135T>C p.F379L Missense 6/17 -
3-119582406-C-T GSK3B c.956G>A p.R319H Missense 9/11 -
6-43746655-A-G VEGFA c.962A>G p.K321R Missense 5/8 -
15-43749166-T-C TP53BP1 c.1640A>G p.N547S Missense 12/28 -
16-56867142-C-T NUP93 c.1361C>T p.T454M Missense 13/22 -
6-112015659-C-G FYN c.1192G>C p.V398L Missense 12/14 -
11-111958617-A-C SDHD c.89A>C p.H30P Missense 2/4 -
16-72992112-A-T ZFHX3 c.1933T>A p.C645S Missense 2/10 -
1-158653225-G-A SPTA1 c.326C>T p.S109F Missense 3/52 -
20-52198817-C-A ZNF217 c.549G>T p.G183= Synonymous 2/6 -
16-72993299-C-G ZFHX3 c.746G>C p.G249A Missense 2/10 -
19-15281580-T-A NOTCH3 c.4793A>T p.D1598V Missense 26/33 -
16-72821343-T-G ZFHX3 c.10832A>C p.H3611P Missense 10/10 -
18-19752100-A-C GATA6 c.995A>C p.H332P Missense 2/7 -
3-30686280-A-C TGFBR2 c.136A>C p.K46Q Missense 2/7 -
5-38950118-A-G RICTOR c.3832T>C p.S1278P Missense 31/38 -
2-141812727-T-A LRP1B c.1510A>T p.R504W Missense 10/91 -
8-37691603-T-C ADGRA2 c.1565T>C p.I522T Missense 11/19 -
16-89839690-C-A FANCA c.2003G>T p.S668I Missense 22/43 -
19-50906399-G-T POLD1 c.1060G>T p.A354S Missense 9/27 -
7-2946463-G-A CARD11 c.3274C>T p.R1092* Nonsense 25/25 -
19-6590945-C-A CD70 c.69G>T p.L23F Missense 1/3 -
2-141083426-C-T LRP1B c.12245G>A p.S4082N Missense 80/91 -
3-49936338-G-A MST1R c.1510C>T p.R504C Missense 3/20 -
3-49934990-A-C MST1R c.2009T>G p.V670G Missense 6/20 -
5-86675607-T-C RASA1 c.2543T>C p.L848P Missense 19/25 -
2-47612335-T-G EPCAM c.889T>G p.Y297D Missense 8/9 -
7-100421477-G-A EPHB4 c.200C>T p.P67L Missense 3/17 -
7-100421460-G-C EPHB4 c.217C>G p.L73V Missense 3/17 -
10-90770309-A-G FAS c.457A>G p.I153V Missense 5/9 -
11-108114780-T-G ATM c.597T>G p.C199W Missense 6/63 -
12-49445089-C-T KMT2D c.2377G>A p.E793K Missense 11/55 -
12-49448725-C-T KMT2D c.134G>A p.S45N Missense 3/55 -
19-11015725-G-A CARM1 c.319G>A p.V107I Missense 2/16 -
11-118376161-C-T KMT2A c.9554C>T p.S3185L Missense 27/36 -
2-48032061-G-T MSH6 c.3451G>T p.A1151S Missense 6/10 -
5-180057053-C-T FLT4 c.566G>A p.R189Q Missense 5/30 -
6-94066470-A-G EPHA7 c.1289T>C p.L430P Missense 5/17 -
17-7578201-CACACTATGTCGA-C TP53 c.636_647del12 p.F212_V216delinsL MultiAAMissense 6/11 -
7-55242467-AATTAAGAGAAGCAACAT-TTG EGFR c.2237_2254delinsTTG p.E746_S752delinsVA MultiAAMissense 19/28 -
9-21971182-AC-TT CDKN2A c.175_176delinsAA p.V59K Missense 2/3 -
3-49725208-G-C MST1 c.217C>G p.R73G Missense 2/18 -
15-42019398-G-T MGA c.3451G>T p.E1151* Nonsense 10/24 -
20-52193094-G-A ZNF217 c.2209C>T p.P737S Missense 4/6 -
17-33433432-C-A RAD51D c.549G>T p.Q183H Missense 6/10 -
14-20823933-C-T PARP2 c.925C>T p.R309W Missense 10/16 -
8-145738094-G-A RECQL4 c.2816C>T p.A939V missense_variant 17/22 -
X-76939822-T-C ATRX c.926A>G p.Y309C Missense 9/35 -
1-193181207-G-T CDC73 c.1043G>T p.R348I Missense 12/17 -
5-112173554-A-G APC c.2263A>G p.R755G Missense 16/16 -
6-150001517-T-C LATS1 c.2087A>G p.K696R Missense 5/8 -
7-128843429-C-T SMO c.536C>T p.T179M Missense 2/12 -
9-110249774-C-G KLF4 c.901G>C p.A301P Missense 3/5 -
12-15722382-A-G PTPRO c.2779A>G p.I927V Missense 19/27 -
13-29041087-G-T FLT1 c.341C>A p.T114N Missense 3/30 -
8-38273437-G-T FGFR1 c.1805C>A p.S602Y Missense 13/18 -
16-30134511-T-A MAPK3 c.20A>T p.Q7L Missense 1/9 -
19-5246020-A-T PTPRS c.755T>A p.M252K Missense 10/38 -
1-120054205-C-G HSD3B1 c.225C>G p.D75E Missense 3/4 -
1-158631174-C-G SPTA1 c.2490G>C p.K830N Missense 18/52 -
8-41805294-C-G KAT6A c.1877G>C p.C626S Missense 11/17 -
8-69031688-T-G PREX2 c.3443T>G p.V1148G Missense 28/40 -
10-8105963-G-T GATA3 c.786G>T p.R262S Missense 4/6 -
11-118377037-C-A KMT2A c.10430C>A p.S3477Y Missense 27/36 -
13-28913392-G-C FLT1 c.2401C>G p.P801A Missense 17/30 -
15-41803485-C-T LTK c.874G>A p.E292K Missense 7/20 -
16-67662454-G-T CTCF c.1700G>T p.R567L Missense 9/12 -
18-60985745-T-A BCL2 c.155A>T p.Q52L Missense 2/3 -
19-50920313-G-A POLD1 c.3079G>A p.E1027K Missense 25/27 -
21-45651283-T-A ICOSLG c.742A>T p.S248C Missense 5/7 -
22-38379668-G-T SOX10 c.124C>A p.L42M Missense 2/4 -
1-243716188-T-C AKT3 c.1006A>G p.M336V Missense 11/14 -
14-75516166-C-G MLH3 c.193G>C p.D65H Missense 2/13 -
7-2969678-G-T CARD11 c.1601C>A p.A534D Missense 12/25 -
7-2969679-C-T CARD11 c.1600G>A p.A534T Missense 12/25 -
16-72830410-C-A ZFHX3 c.6171G>T p.Q2057H Missense 9/10 -
16-3789622-G-A CREBBP c.4237C>T p.H1413Y Missense 25/31 -
16-3639377-A-C SLX4 c.4262T>G p.I1421S Missense 12/15 -
2-29754893-C-T ALK c.1042G>A p.A348T Missense 4/29 -
2-227661669-C-G IRS1 c.1786G>C p.G596R Missense 1/2 -
5-176520202-C-T FGFR4 c.1121C>T p.A374V Missense 9/18 -
12-69968445-C-T FRS2 c.1237C>T p.R413W Missense 9/9 -
16-14041752-T-C ERCC4 c.2299T>C p.F767L Missense 11/11 -
17-7980421-C-T ALOX12B c.1162G>A p.A388T Missense 9/15 -
11-71942228-C-T INPPL1 c.1492C>T p.R498C Missense 12/28 -
1-2491358-A-G TNFRSF14 c.401A>G p.H134R Missense 4/8 -
15-91293039-A-G BLM c.541A>G p.S181G Missense 3/22 -
3-12475561-C-G PPARG c.1351C>G p.Q449E Missense 8/8 -
3-169953071-A-G PRKCI c.155A>G p.N52S Missense 2/18 -
4-1806195-G-T FGFR3 c.1214G>T p.G405V Missense 9/18 -
6-134494479-T-G SGK1 c.635A>C p.H212P Missense 7/14 -
12-49445732-C-G KMT2D c.1734G>C p.E578D Missense 11/55 -
8-37688342-G-A ADGRA2 c.833G>A p.R278H Missense 7/19 -
9-5069154-C-T JAK2 c.1459C>T p.R487C Missense 11/25 -
9-35075730-G-C FANCG c.1165C>G p.P389A Missense 10/14 -
11-118373677-C-G KMT2A c.7070C>G p.P2357R Missense 27/36 -
12-21644468-C-T RECQL c.199G>A p.A67T Missense 3/15 -
16-23649402-C-T PALB2 c.97G>A p.A33T Missense 2/13 -
21-45655232-C-T ICOSLG c.620G>A p.R207Q Missense 4/7 -
7-55087058-G-C EGFR c.88G>C p.V30L Missense 1/28 -
5-149497346-C-T PDGFRB c.2972G>A p.R991H Missense 22/23 -
7-6027012-T-C PMS2 c.1384A>G p.I462V Missense 11/15 -
9-93606448-C-A SYK c.268C>A p.H90N Missense 2/14 -
9-97876934-T-G FANCC c.1131A>C p.E377D Missense 12/15 -
9-93606269-T-C SYK c.89T>C p.V30A Missense 2/14 -
11-108196135-T-C ATM c.6671T>C p.M2224T Missense 46/63 -
7-6026969-C-T PMS2 c.1427G>A p.S476N Missense 11/15 -
17-7989447-GTCCTTGGGGAAGAAGGCGTAC-G ALOX12B c.219_239del21 p.Y74_D80del InFrameDeletion 2/15 -
19-18965834-CTCAACCACT-C UPF1 c.1412_1420delTCAACCACT p.L471_S474delinsP MultiAAMissense 10/24 -
4-55984811-CC-AT KDR c.317_318delinsAT p.R106H Missense 3/30 -
5-176518043-A-G FGFR4 c.541A>G p.T181A Missense 5/18 -
3-52661320-T-A PBRM1 c.1510A>T p.T504S Missense 14/30 -
16-14014110-G-C ERCC4 c.88G>C p.D30H Missense 1/11 -
9-137300095-T-C RXRA c.380T>C p.M127T Missense 3/10 -
2-242794121-T-TGGCTCC PDCD1 c.601_606dup p.G201_A202dup InFrameInsertion 4/5 -
3-12475471-C-G PPARG c.1261C>G p.L421V Missense 8/8 -
5-176520430-C-G FGFR4 c.1275C>G p.S425= Synonymous 10/18 -
5-176520430-C-T FGFR4 c.1275C>T p.S425= Synonymous 10/18 -
17-55704620-G-A MSI2 c.683G>A p.R228H Missense 10/14 -
15-41797609-C-A LTK c.1817G>T p.R606L Missense 14/20 -
12-92538121-G-C BTG1 c.251C>G p.A84G Missense 2/2 -
1-22181855-G-A HSPG2 c.5939C>T p.A1980V Missense 47/97 -
2-29754914-T-C ALK c.1021A>G p.S341G Missense 4/29 -
7-92244520-C-A CDK6 c.915G>T p.R305S Missense 8/8 -
10-50686456-G-A ERCC6 c.2230C>T p.R744W Missense 11/21 -
5-36976408-G-A NIPBL c.1399G>A p.D467N Missense 9/47 -
2-30143525-T-C ALK c.1A>G p.M1? Missense 1/29 -
19-15303035-C-T NOTCH3 c.415G>A p.D139N Missense 4/33 -
1-22207013-C-T HSPG2 c.2038G>A p.A680T Missense 16/97 -
X-47041678-G-T RBM10 c.1903G>T p.E635* Nonsense 17/24 -
13-21562631-T-G LATS2 c.1288A>C p.N430H Missense 4/8 -
16-3640872-T-A SLX4 c.2767A>T p.M923L Missense 12/15 -
17-48276804-C-T COL1A1 c.344G>A p.G115E Missense 4/51 -
18-61323100-C-T SERPINB3 c.964G>A p.G322S Missense 8/8 -
12-4479733-T-G FGF23 c.532A>C p.T178P Missense 3/3 -
2-190719076-C-T PMS1 c.1078C>T p.L360F Missense 9/13 -
8-56882302-G-A LYN c.1000G>A p.D334N Missense 10/13 -
9-133759429-G-C ABL1 c.1752G>C p.L584= Synonymous 11/11 -
11-108115597-A-G ATM c.745A>G p.I249V Missense 7/63 -
15-67473585-A-G SMAD3 c.665A>G p.Q222R Missense 6/9 -
16-341269-G-A AXIN1 c.2215C>T p.R739C Missense 9/11 -
3-72799483-G-T SHQ1 c.1686C>A p.N562K Missense 11/11 -
4-20544150-G-A SLIT2 c.2177G>A p.R726H Missense 21/37 -
5-161117341-C-T GABRA6 c.808C>T p.P270S Missense 7/9 -
9-127923140-C-T PPP6C c.217G>A p.D73N Missense 3/7 -
21-39755737-T-C ERG c.1028A>G p.D343G Missense 10/10 -
10-76781878-GGAAGAGGAT-G KAT6B c.3270_3278delTGAAGAGGA p.D1090_E1092del InFrameDeletion 16/18 -
4-41748118-CCCG-C PHOX2B c.648_650delCGG p.G217del InFrameDeletion 3/3 -
9-20365693-AAGCTGG-A MLLT3 c.1169_1174delCCAGCT p.S390_S391del InFrameDeletion 6/11 -
9-87338523-ACTGTGGAGGAAGGAAAGT-A NTRK2 c.622_639del18 p.V208_S213del InFrameDeletion 7/19 -
16-3778400-TTGC-T CREBBP c.6645_6647delGCA p.Q2216del InFrameDeletion 31/31 -
10-101544518-A-AAGC ABCC2 c.188_189insGCA p.K63_L64insQ InFrameInsertion 2/32 -
16-72821615-GCCACCG-A ZFHX3 c.10554_10560delinsT p.G3526_G3527del InFrameDeletion 10/10 -
4-41747944-GGGA-G PHOX2B c.822_824delTCC p.P275del InFrameDeletion 3/3 -
11-125497673-TCCA-T CHEK1 c.237_239delCCA p.Q80del InFrameDeletion 3/13 -
1-22206925-T-C HSPG2 c.2126A>G p.D709G Missense 16/97 -
8-26149336-A-G PPP2R2A c.1A>G p.M1? Missense 1/10 -
16-359996-G-A AXIN1 c.1093C>T p.R365W Missense 4/11 -
9-133759372-G-C ABL1 c.1695G>C p.E565D Missense 11/11 -
19-35831891-C-T CD22 c.1357C>T p.R453W Missense 7/14 -
2-109381515-A-C RANBP2 c.4520A>C p.K1507T Missense 20/29 -
2-109380129-C-T RANBP2 c.3134C>T p.T1045M Missense 20/29 -
6-32487258-C-A HLA-DRB5 c.541G>T p.D181Y Missense 3/6 -
6-32634287-C-A HLA-DQB1 c.98G>T p.R33I Missense 1/5 -
11-17743020-G-A MYOD1 c.928G>A p.G310S Missense 3/3 -
13-110436411-C-A IRS2 c.1990G>T p.G664C Missense 1/2 -
2-212251704-C-T ERBB4 c.3355G>A p.V1119I Missense 27/28 -
2-234669547-C-T UGT1A1 c.614C>T p.T205I Missense 1/5 -
2-212488723-T-C ERBB4 c.2126A>G p.Q709R Missense 18/28 -
8-145741388-C-G RECQL4 c.1115G>C p.R372T Missense 5/22 -
11-94178990-A-G MRE11 c.1853T>C p.M618T Missense 16/20 -
16-31146744-A-C PRSS8 c.76T>G p.S26A Missense 1/6 -
12-430171-C-T KDM5A c.2531G>A p.R844Q Missense 18/28 -
12-57860171-C-T GLI1 c.911C>T p.T304M Missense 8/12 -
16-3656667-G-A SLX4 c.568C>T p.P190S Missense 3/15 -
19-15288568-C-G NOTCH3 c.4171G>C p.A1391P Missense 24/33 -
4-187541170-C-A FAT1 c.6570G>T p.E2190D Missense 10/27 -
14-38061141-C-A FOXA1 c.848G>T p.G283V Missense 2/2 -
X-47041563-T-G RBM10 c.1788T>G p.Y596* Nonsense 17/24 -
10-123324026-A-T FGFR2 c.444T>A p.S148R Missense 4/18 -
12-123874060-A-T KMT5A c.91A>T p.M31L Missense 2/8 -
6-35420365-G-C FANCE c.43G>C p.E15Q Missense 1/10 -
3-47165554-G-A SETD2 c.572C>T p.P191L Missense 3/21 -
7-151860142-C-T KMT2C c.10520G>A p.R3507Q Missense 43/59 -
12-1040408-C-T RAD52 c.164G>A p.R55H Missense 3/12 -
12-56490398-G-A ERBB3 c.2167G>A p.V723M Missense 18/28 -
22-29091827-T-G CHEK2 c.1130A>C p.E377A Missense 11/15 -
22-30057255-C-G NF2 c.737C>G p.P246R Missense 8/16 -
X-47035920-C-T RBM10 c.598C>T p.Q200* Nonsense 7/24 -
17-40371414-T-G STAT5B c.749A>C p.D250A Missense 7/19 -
12-123874064-T-G KMT5A c.95T>G p.V32G Missense 2/8 -
16-72863756-C-A ZFHX3 c.3451G>T p.E1151* Nonsense 5/10 -
9-21818170-G-A MTAP c.316G>A p.D106N Missense 4/8 -
12-475204-G-A KDM5A c.433C>T p.R145C Missense 4/28 -
15-93496765-G-A CHD2 c.1681G>A p.V561I Missense 14/39 -
20-52193112-G-C ZNF217 c.2191C>G p.L731V Missense 4/6 -
1-16257012-T-C SPEN c.4277T>C p.L1426S Missense 11/15 -
9-5549514-C-T PDCD1LG2 c.541C>T p.R181C Missense 4/7 -
12-133237641-C-T POLE c.2974G>A p.A992T Missense 25/49 -
2-141946077-A-G LRP1B c.926T>C p.V309A Missense 7/91 -
9-87482334-A-C NTRK2 c.1621A>C p.K541Q Missense 14/19 -
14-30066702-T-G PRKD1 c.2429A>C p.H810P Missense 16/18 -
17-7216752-T-G GPS2 c.671A>C p.Q224P Missense 8/11 -
17-37619085-A-C CDK12 c.761A>C p.H254P Missense 1/14 -
19-42753064-G-C ERF c.1200C>G p.D400E Missense 4/4 -
1-149785140-T-C H3C13 c.97A>G p.T33A Missense 1/1 -
2-215645591-C-T BARD1 c.1007G>A p.C336Y Missense 4/11 -
9-27197397-C-T TEK c.1709C>T p.S570L Missense 12/23 -
11-100999132-C-T PGR c.670G>A p.E224K Missense 1/8 -
18-56390435-C-T MALT1 c.1174C>T p.R392C Missense 10/17 -
12-49431305-TTGC-T KMT2D c.9831_9833delGCA p.Q3282del InFrameDeletion 35/55 -
22-30032859-CAAG-C NF2 c.238_240delAAG p.K80del SpliceDonorDeletion 2/16 -
22-30032797-G-GAGCAGCAGCAGC NF2 c.173_174insGCAGCAGCAGCA p.E58_T59insQQQQ InFrameInsertion 2/16 -
4-106155335-CACA-C TET2 c.238_240delCAA p.Q80del InFrameDeletion 3/11 -
9-27157973-A-G TEK c.197A>G p.N66S Missense 2/23 -
10-123244937-C-T FGFR2 c.2167G>A p.D723N Missense 16/18 -
12-49447349-T-G KMT2D c.749A>C p.H250P Missense 7/55 -
7-151877845-G-T KMT2C c.7100C>A p.T2367K Missense 36/59 -
10-63850916-C-A ARID5B c.1694C>A p.T565N Missense 10/10 -
12-49425206-C-T KMT2D c.13282G>A p.A4428T Missense 40/55 -
16-89371740-C-T ANKRD11 c.100G>A p.V34I Missense 4/13 -
16-3779076-G-A CREBBP c.5972C>T p.P1991L Missense 31/31 -
17-37864680-A-G ERBB2 c.332A>G p.N111S Missense 3/27 -
1-118166506-G-A TENT5C c.1016G>A p.R339H Missense 2/2 -
2-112722768-G-T MERTK c.758G>T p.G253V Missense 5/19 -
7-128829133-C-A SMO c.141C>A p.S47R Missense 1/12 -
13-21620048-C-A LATS2 c.118G>T p.G40* Nonsense 2/8 -
20-9624949-C-A PAK5 c.28G>T p.E10* Nonsense 3/10 -
1-51439914-G-C CDKN2C c.479G>C p.G160A Missense 2/2 -
2-26022318-G-C ASXL2 c.339C>G p.N113K Missense 5/13 -
2-47630391-C-T MSH2 c.61C>T p.R21C Missense 1/16 -
3-51977429-C-G PARP3 c.79C>G p.R20G Missense 2/11 -
5-176637082-C-G NSD1 c.1682C>G p.S561C Missense 5/23 -
7-142643310-G-A KEL c.1298C>T p.P433L Missense 11/19 -
8-145738862-G-A RECQL4 c.2203C>T p.R735C Missense 14/22 -
16-3647516-G-A SLX4 c.1547C>T p.A516V Missense 7/15 -
19-1219396-G-A STK11 c.448G>A p.V150M Missense 3/10 -
1-162745495-T-C DDR2 c.1910T>C p.I637T Missense 15/18 -
1-246093200-G-A SMYD3 c.571C>T p.Q191* Nonsense 6/12 -
4-20618542-G-T SLIT2 c.3857G>T p.G1286V Missense 35/37 -
7-81386539-G-T HGF c.448C>A p.Q150K Missense 4/18 -
8-37690548-G-A ADGRA2 c.1118G>A p.G373D Missense 9/19 -
10-104592955-C-A CYP17A1 c.764G>T p.R255L Missense 5/8 -
11-102094429-T-A YAP1 c.1109T>A p.M370K Missense 7/9 -
14-38061009-C-A FOXA1 c.980G>T p.G327V Missense 2/2 -
17-29509630-G-C NF1 c.835G>C p.E279Q Missense 8/58 -
17-29541493-A-G NF1 c.1417A>G p.T473A Missense 13/58 -
20-41385221-C-A PTPRT c.740G>T p.R247L Missense 6/31 -
X-47424197-C-T ARAF c.202C>T p.R68* Nonsense 4/16 -
5-112176292-T-G APC c.5001T>G p.N1667K Missense 16/16 -
2-48025766-T-G MSH6 c.644T>G p.V215G Missense 4/10 -
3-189526270-C-A TP63 c.534C>A p.D178E Missense 4/14 -
16-23632749-A-G PALB2 c.3047T>C p.F1016S Missense 10/13 -
4-55129932-G-A PDGFRA c.466G>A p.E156K Missense 4/23 -
10-63852251-G-A ARID5B c.3029G>A p.R1010Q Missense 10/10 -
11-17741787-C-G MYOD1 c.458C>G p.A153G Missense 1/3 -
13-113887594-G-A CUL4A c.616G>A p.G206S Missense 6/20 -
14-30100011-G-T PRKD1 c.1609C>A p.Q537K Missense 10/18 -
12-120784095-G-A MSI1 c.890C>T p.P297L Missense 13/15 -
12-133241898-T-G POLE c.2458A>C p.M820L Missense 21/49 -
1-228612974-C-T H3-4 c.53G>A p.R18H Missense 1/1 -
12-49435770-C-A KMT2D c.6113G>T p.W2038L Missense 30/55 -
1-156851267-C-T NTRK1 c.2224C>T p.Q742* Nonsense 17/17 -
7-151879084-G-C KMT2C c.5861C>G p.S1954C Missense 36/59 -
11-111965590-G-T SDHD c.376G>T p.A126S Missense 4/4 -
2-25973044-A-C ASXL2 c.1381T>G p.S461A Missense 12/13 -
2-25973050-T-C ASXL2 c.1375A>G p.T459A Missense 12/13 -
2-26068408-G-C ASXL2 c.82C>G p.P28A Missense 2/13 -
15-43748774-C-A TP53BP1 c.2032G>T p.E678* Nonsense 12/28 -
12-1025806-G-C RAD52 c.724C>G p.R242G Missense 8/12 -
20-46255875-G-A NCOA3 c.487G>A p.E163K Missense 6/23 -
20-57478608-G-A GNAS c.280G>A p.D94N Missense 4/13 -
4-20568902-A-G SLIT2 c.2743A>G p.I915V Missense 27/37 -
X-39933151-G-A BCOR c.1448C>T p.P483L Missense 4/15 -
X-48649728-A-G GATA1 c.212A>G p.H71R Missense 2/6 -
2-25966378-G-C ASXL2 c.2828C>G p.T943S Missense 13/13 -
17-30323835-G-T SUZ12 c.1813G>T p.D605Y Missense 15/16 -
2-47705619-A-C MSH2 c.2419A>C p.T807P Missense 14/16 -
11-118390417-G-A KMT2A c.11231G>A p.R3744Q Missense 32/36 -
3-10128885-A-C FANCD2 c.3403A>C p.I1135L Missense 34/44 -
11-118342838-T-G KMT2A c.964T>G p.S322A Missense 3/36 -
9-133759851-G-T ABL1 c.2174G>T p.G725V Missense 11/11 -
9-133759718-T-C ABL1 c.2041T>C p.F681L Missense 11/11 -
5-176517436-C-T FGFR4 c.137C>T p.T46I Missense 3/18 -
7-55224510-G-A EGFR c.1192G>A p.V398I Missense 10/28 -
8-41906039-G-C KAT6A c.457C>G p.R153G Missense 2/17 -
16-3779022-C-G CREBBP c.6026G>C p.S2009T Missense 31/31 -
16-72829040-G-A ZFHX3 c.7541C>T p.T2514I Missense 9/10 -
17-29483115-A-C NF1 c.175A>C p.T59P Missense 2/58 -
2-227660807-GGCT-G IRS1 c.2645_2647delAGC p.Q882del InFrameDeletion 1/2 -
10-63851054-CGGA-C ARID5B c.1836_1838delGGA p.E612del InFrameDeletion 10/10 -
10-63850633-CAAGAAAAAG-C ARID5B c.1414_1422delGAAAAAGAA p.E472_E474del InFrameDeletion 10/10 -
X-110406205-GGAA-G PAK3 c.546_548delAGA p.E182del InFrameDeletion 9/18 -
15-42003382-ACAG-A MGA c.2931_2933delGCA p.Q981del InFrameDeletion 8/24 -
22-29130529-T-TCTGCTG CHEK2 c.180_181insCAGCAG p.L60_S61insQQ InFrameInsertion 2/15 -
12-49445425-A-G KMT2D c.2041T>C p.S681P Missense 11/55 -
2-25978959-A-C ASXL2 c.964T>G p.L322V Missense 10/13 -
15-41796358-A-G LTK c.2431T>C p.S811P Missense 20/20 -
1-156851285-C-A NTRK1 c.2242C>A p.R748= Synonymous 17/17 -
9-133759794-G-T ABL1 c.2117G>T p.G706V Missense 11/11 -
7-55248998-A-ATGGCCAGCG EGFR c.2300_2308dup p.A767_V769dup InFrameInsertion 20/28 -
1-45799120-C-A MUTYH c.229G>T p.D77Y Missense 3/16 -
1-45799120-C-G MUTYH c.229G>C p.D77H Missense 3/16 -
1-45799120-C-T MUTYH c.229G>A p.D77N Missense 3/16 -
2-141946086-C-A LRP1B c.917G>T p.R306L Missense 7/91 -
2-212566725-C-A ERBB4 c.1456G>T p.V486L Missense 12/28 -
3-10084285-G-T FANCD2 c.826G>T p.E276* Nonsense 11/44 -
3-38180417-G-A MYD88 c.265G>A p.D76N Missense 1/5 -
3-52621446-C-A PBRM1 c.2971G>T p.E991* Nonsense 20/30 -
4-55976869-A-T KDR c.1043T>A p.V348D Missense 8/30 -
5-57750553-C-G PLK2 c.1915G>C p.E639Q Missense 14/14 -
5-176637159-G-T NSD1 c.1759G>T p.G587C Missense 5/23 -
5-180055994-G-T FLT4 c.991C>A p.P331T Missense 8/30 -
7-81388023-G-T HGF c.352C>A p.L118I Missense 3/18 -
7-92355028-T-C CDK6 c.449A>G p.N150S Missense 4/8 -
7-100410605-C-A EPHB4 c.1882G>T p.E628* Nonsense 12/17 -
8-37692838-G-T ADGRA2 c.1755G>T p.E585D Missense 12/19 -
5-180030278-C-T FLT4 c.4006G>A p.E1336K Missense 30/30 -
7-81355326-G-A HGF c.1048C>T p.R350* Nonsense 9/18 -
9-27190589-A-C TEK c.1390A>C p.N464H Missense 10/23 -
14-95582861-T-C DICER1 c.1681A>G p.I561V Missense 10/27 -
16-23619239-G-T PALB2 c.3296C>A p.T1099K Missense 12/13 -
17-58678032-C-T PPM1D c.257C>T p.P86L Missense 1/6 -
19-50919036-G-A POLD1 c.2773G>A p.V925M Missense 22/27 -
15-43784559-C-T TP53BP1 c.115G>A p.D39N Missense 2/28 -
1-120491725-G-A NOTCH2 c.2504C>T p.A835V Missense 16/34 -
16-89877354-G-C FANCA c.409C>G p.L137V Missense 4/43 -
19-15276653-G-A NOTCH3 c.5612C>T p.S1871L Missense 30/33 -
15-93485147-T-G CHD2 c.788T>G p.I263S Missense 8/39 -
16-72821636-ACTG-A ZFHX3 c.10536_10538delCAG p.S3513del InFrameDeletion 10/10 -
16-72993868-CTCA-C ZFHX3 c.174_176delTGA p.N58_E59delinsK MultiAAMissense 2/10 -
7-55268955-GGACGACGTGGTGGAT-G EGFR c.3023_3037del15 p.D1008_D1012del InFrameDeletion 25/28 -
19-18273784-GG-CT PIK3R2 c.1117_1118delGGinsCT p.G373L Missense 10/16 -
10-104596877-AGCT-A CYP17A1 c.239_241delAGC p.Q80del InFrameDeletion 1/8 -
19-10292734-C-T DNMT1 c.100G>A p.D34N Missense 2/41 -
1-246078897-G-A SMYD3 c.748C>T p.R250W Missense 8/12 -
1-246078897-G-T SMYD3 c.748C>A p.R250= Synonymous 8/12 -
3-134851697-G-A EPHB1 c.1103G>A p.R368Q Missense 5/16 -
8-68982089-G-A PREX2 c.1463G>A p.R488H Missense 13/40 -
17-70120442-G-A SOX9 c.1444G>A p.D482N Missense 3/3 -
X-70343020-C-T MED12 c.1561C>T p.R521C Missense 11/45 -
9-80537225-T-A GNAQ c.173A>T p.Q58L Missense 2/7 -
2-242794872-C-T PDCD1 c.337G>A p.A113T Missense 2/5 -
16-81957157-G-A PLCG2 c.2375G>A p.R792H Missense 22/33 -
17-59871023-C-T BRIP1 c.1408G>A p.G470R Missense 10/20 -
19-1627410-C-T TCF3 c.314G>A p.R105Q Missense 6/19 -
19-13049543-C-G CALR c.50C>G p.A17G Missense 1/9 -
19-1621879-A-G TCF3 c.913T>C p.S305P Missense 11/19 -
2-215645691-C-T BARD1 c.907G>A p.V303I Missense 4/11 -
4-187541859-C-T FAT1 c.5881G>A p.G1961S Missense 10/27 -
5-176518758-G-A FGFR4 c.676G>A p.V226I Missense 6/18 -
7-151878479-T-C KMT2C c.6466A>G p.T2156A Missense 36/59 -
6-37138784-C-G PIM1 c.217C>G p.R73G Missense 3/6 -
15-38643531-G-A SPRED1 c.1001G>A p.R334H Missense 7/7 -
15-41988350-T-C MGA c.1142T>C p.I381T Missense 3/24 -
16-3633395-G-A SLX4 c.4856C>T p.P1619L Missense 14/15 -
6-37138981-G-A PIM1 c.321G>A p.L107= Synonymous 4/6 -
17-7983555-G-C ALOX12B c.752C>G p.S251C Missense 6/15 -
1-27106106-G-C ARID1A c.5717G>C p.R1906P Missense 20/20 -
6-89793584-A-G PNRC1 c.653A>G p.Y218C Missense 2/2 -
8-37689078-G-A ADGRA2 c.1070G>A p.R357H Missense 8/19 -
9-93627330-G-C SYK c.797G>C p.G266A Missense 6/14 -
16-89350760-C-A ANKRD11 c.2190G>T p.R730S Missense 9/13 -
17-29653164-A-G NF1 c.5162A>G p.H1721R Missense 37/58 -
1-27107009-A-T ARID1A c.6620A>T p.Q2207L Missense 20/20 -
2-16082915-G-T MYCN c.729G>T p.Q243H Missense 2/3 -
2-25505459-T-A DNMT3A c.299A>T p.Q100L Missense 4/23 -
2-215674179-C-T BARD1 c.115G>A p.A39T Missense 1/11 -
3-52582216-C-G PBRM1 c.4612G>C p.E1538Q Missense 30/30 -
4-106155177-G-T TET2 c.78G>T p.Q26H Missense 3/11 -
6-150001155-C-T LATS1 c.2449G>A p.E817K Missense 5/8 -
7-86416031-G-C GRM3 c.923G>C p.S308T Missense 3/6 -
9-98231266-G-A PTCH1 c.2017C>T p.H673Y Missense 14/24 -
10-63810730-A-G ARID5B c.817A>G p.N273D Missense 5/10 -
12-57861831-T-A GLI1 c.1132T>A p.S378T Missense 10/12 -
13-28622416-A-G FLT3 c.1201T>C p.Y401H Missense 9/24 -
13-29001378-G-T FLT1 c.1354C>A p.L452M Missense 10/30 -
13-32910747-A-T BRCA2 c.2255A>T p.D752V Missense 11/27 -
16-81934373-G-T PLCG2 c.1350G>T p.K450N Missense 14/33 -
4-41748004-CGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCT-C PHOX2B c.726_764del39 p.A248_A260del InFrameDeletion 3/3 -
19-45854930-CTCT-C ERCC2 c.2238_2240delAGA p.E748del InFrameDeletion 23/23 -
19-45872195-AATC-A ERCC2 c.237_239delGAT p.E79_I80delinsD MultiAAMissense 4/23 -
3-51979069-CGAGGCCTTG-C PARP3 c.717_725delCTTGGAGGC p.A235_E237del InFrameDeletion 6/11 -
3-51981876-TTCG-T PARP3 c.1418_1420delTCG p.F466_D467delinsY MultiAAMissense 10/11 -
7-55242468-ATTAAGAGAAGCAACATCT-GCAA EGFR c.2238_2256delinsGCAA p.L747_S752delinsQ MultiAAMissense 19/28 -
17-30264502-TCCA-T SUZ12 c.237_239delCCA p.Q80del InFrameDeletion 1/16 -
9-87475976-GGGA-G NTRK2 c.1418_1420delGGA p.G473_K474delinsE MultiAAMissense 13/19 -
19-1622199-C-T TCF3 c.676G>A p.E226K Missense 10/19 -
19-13050265-C-G CALR c.217C>G p.R73G Missense 3/9 -
5-176517620-G-A FGFR4 c.321G>A p.M107I Missense 3/18 -
12-133212597-C-G POLE c.5692G>C p.E1898Q Missense 42/49 -
2-212248635-G-A ERBB4 c.3632C>T p.T1211I Missense 28/28 -
5-112175007-G-A APC c.3716G>A p.R1239K Missense 16/16 -
11-77043849-T-C PAK1 c.1477A>G p.I493V Missense 14/15 -
14-95593000-A-C DICER1 c.820T>G p.L274V Missense 7/27 -
15-42035253-G-A MGA c.5095G>A p.V1699I Missense 15/24 -
16-81946269-G-A PLCG2 c.2002G>A p.A668T Missense 19/33 -
19-2211146-T-C DOT1L c.1400T>C p.V467A Missense 15/28 -
19-42383204-C-G CD79A c.224C>G p.T75R Missense 2/5 -
7-140449206-T-G BRAF c.1873A>C p.I625L Missense 16/18 -
9-87317319-G-T NTRK2 c.344G>T p.S115I Missense 4/19 -
2-141143489-T-C LRP1B c.10504A>G p.S3502G Missense 67/91 -
1-150551373-T-C MCL1 c.634A>G p.T212A Missense 1/3 -
13-73337683-AT-A DIS3 c.2032delA p.I678Ffs*59 Frameshift 16/21 -
19-45854937-C-A ERCC2 c.2233G>T p.E745* Nonsense 23/23 -
19-18943167-GC-G UPF1 c.153delC p.G52Afs*42 Frameshift 1/24 -
19-1207064-T-TG STK11 c.157_157dup p.D53Gfs*110 Frameshift 1/10 -
X-47045664-CG-C RBM10 c.2545delG p.E849Sfs*37 Frameshift 23/24 -
1-120458389-CG-C NOTCH2 c.6956delC p.A2319Gfs*39 Frameshift 34/34 -
5-67589575-G-GA PIK3R1 c.1344_1344dup p.L449Ifs*3 Frameshift 11/16 -
17-40370235-TG-T STAT5B c.1102delC p.Q368Rfs*2 Frameshift 9/19 -
6-112386180-CA-C CCN6 c.625delA p.S191Afs*41 Frameshift 3/5 -
7-142658485-G-GA KEL c.184_184dup p.S62Ffs*17 Frameshift 3/19 -
X-47044927-AG-A RBM10 c.2253delG p.K752Sfs*50 Frameshift 20/24 -
16-72822591-G-GA ZFHX3 c.9583_9584insT p.P3195Lfs*44 Frameshift 10/10 -
16-72822586-G-GCT ZFHX3 c.9588_9589insAG p.Q3197Sfs*45 Frameshift 10/10 -
11-125505377-G-GA CHEK1 c.676_676dup p.T226Nfs*19 Frameshift 7/13 -
2-220439653-TG-T INHA c.509delG p.G170Afs*20 Frameshift 2/2 -
12-57860073-C-CT GLI1 c.814_814dup p.W272Lfs*35 Frameshift 8/12 -
7-13975472-TG-T ETV1 c.414delC p.T139Hfs*116 Frameshift 8/14 -
11-118344185-AC-A KMT2A c.2318delC p.P773Rfs*8 Frameshift 3/36 -
5-79970914-C-CA MSH3 c.1148_1148dup p.N385Qfs*19 Frameshift 7/24 -
12-21644546-CT-C RECQL c.120delA p.V41Sfs*2 Frameshift 3/15 -
7-41730027-TG-T INHBA c.501delC p.R168Gfs*30 Frameshift 3/3 -
7-116403235-T-TC MET c.2497_2497dup p.L833Pfs*6 Frameshift 11/21 -
16-72991350-TG-T ZFHX3 c.2694delC p.M899Wfs*4 Frameshift 2/10 -
10-123239508-CGA-C FGFR2 c.2327_2328delTC p.L776Rfs*6 Frameshift 18/18 -
1-27023830-CG-C ARID1A c.941delG p.G314Afs*49 Frameshift 1/20 -
12-49420203-G-GC KMT2D c.15545_15545dup p.L5183Pfs*16 Frameshift 49/55 -
17-38546380-C-CT TOP2A c.4303_4303dup p.R1435Kfs*8 Frameshift 34/35 -
5-112177176-TG-T APC c.5885delG p.C1962Sfs*8 Frameshift 16/16 -
10-101578637-CCT-C ABCC2 c.2362_2363delCT p.L788Vfs*13 Frameshift 18/32 -
17-38512368-CCGGGGGGTGGGGGGCGGGA-C RARA c.1286_1304del19 p.G429Vfs*208 Frameshift 9/9 -
7-55242467-GAA-G EGFR c.2237_2238delAA p.E746Vfs*16 Frameshift 19/28 -
3-49927458-GT-G MST1R c.3846delA p.R1283Gfs*37 Frameshift 19/20 -
1-36937051-AC-A CSF3R c.1267delG p.V423Sfs*10 Frameshift 10/17 -
3-142188348-TCTGTGATAAC-T ATR c.6373_6382delGTTATCACAG p.V2125Sfs*6 Frameshift 38/47 -
3-10084281-A-AT FANCD2 c.824_824dup p.L275Ffs*22 Frameshift 11/44 -
X-47039288-TGCGCAACCTGAACCCACACA-T RBM10 c.914_933del20 p.R305Hfs*69 Frameshift 10/24 -
2-141128388-CCTTACATTCAGTCACACAG-C LRP1B c.10881_10899del19 p.D3627Efs*123 Frameshift 71/91 -
2-227661663-GC-G IRS1 c.1791delG p.H598Tfs*38 Frameshift 1/2 -
2-227661663-G-GC IRS1 c.1791_1791dup p.H598Afs*13 Frameshift 1/2 -
17-41610700-TG-T ETV4 c.399delC p.R134Dfs*30 Frameshift 7/13 -
12-121416708-AG-A HNF1A c.142delG p.E48Sfs*107 Frameshift 1/10 -
7-151848069-CCT-C KMT2C c.12688_12689delAG p.R4230Gfs*9 Frameshift 51/59 -
5-131944381-C-CA RAD50 c.2801_2801dup p.N934Kfs*10 Frameshift 17/25 -
8-68992720-G-GT PREX2 c.1693_1693dup p.S565Ffs*3 Frameshift 16/40 -
7-151874147-C-CT KMT2C c.8390_8390dup p.E2798Gfs*11 Frameshift 38/59 -
12-21644546-C-CA RECQL c.120_121insT p.V41Cfs*14 Frameshift 3/15 -