PMID: 31470906

Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta neuropathologica communications
G Jungwirth, R Warta, C Beynon, F Sahm, A von Deimling, A Unterberg, C Herold-Mende, C Jungk
2019-08-30

1612 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
13-28609825-A-G FLT3 c.1419-15T>C - IntronicSNV - 11/23
12-18499777-C-A PIK3C2G c.1625+7C>A - IntronicSNV - 11/31
12-121435587-G-A HNF1A c.1501+119G>A - IntronicSNV - 7/9
12-121435587-G-T HNF1A c.1501+119G>T - IntronicSNV - 7/9
19-11170576-G-C SMARCA4 c.4768+15G>C - IntronicSNV - 33/34
9-87384899-A-G NTRK2 c.1396+17899A>G - IntronicSNV - 14/14
8-133905999-T-C TG c.2826T>C p.Ile942Ile Synonymous 11/48 -
7-138536610-G-A KIAA1549 c.5294+359C>T - IntronicSNV - 17/19
9-87396495-T-C NTRK2 c.1397-28962T>C - IntronicSNV - 14/14
13-49051012-C-T RB1 c.2663+33C>T - IntronicSNV - 25/26
12-18499636-C-T PIK3C2G c.1491C>T p.Tyr497Tyr Synonymous 11/32 -
16-85697059-C-T GSE1 c.2483C>T p.Ser828Leu Missense 11/16 -
7-55228053-A-T EGFR c.1498+22A>T - IntronicSNV - 12/27
18-52901996-AAGG-AAGGAAGG TCF4 c.1351-84_1351-81dup - IntronicInsertion - 15/19
22-21348914-C-T LZTR1 c.1683C>T p.Arg561Arg Synonymous 15/21 -
16-71609883-G-T TAT c.282C>A p.Thr94Thr Synonymous 3/12 -
16-71609883-G-A TAT c.282C>T p.Thr94Thr Synonymous 3/12 -
16-71609883-G-C TAT c.282C>G p.Thr94Thr Synonymous 3/12 -
13-32915005-G-C BRCA2 c.6513G>C p.Val2171Val Synonymous 11/27 -
2-69260300-A-G ANTXR1 c.153-6876A>G - IntronicSNV - 1/17
12-18443809-C-A PIK3C2G c.782C>A p.Ala261Glu Missense 4/32 -
9-98211572-T-A PTCH1 c.3583A>T p.Thr1195Ser Missense 22/24 -
4-72631238-GGTG-G GC c.384_386delCCA p.His128delHis InFrameDeletion 4/13 -
11-108224615-A-G ATM c.8786+8A>G - IntronicSNV - 60/62
7-140453929-T-C BRAF c.1741+58A>G - IntronicSNV - 14/17
7-140453929-T-G BRAF c.1741+58A>C - IntronicSNV - 14/17
7-55241755-G-A EGFR c.2184+19G>A - IntronicSNV - 18/27
8-133898719-AGG-CAT TG c.1102_1104delAGGinsCAT p.Arg368His Missense 9/48 -
5-67588148-G-A PIK3R1 c.168G>A p.Met56Ile Missense 2/10 -
16-2115481-C-T TSC2 c.1600-39C>T - IntronicSNV - 15/41
9-87383801-T-G NTRK2 c.1396+16801T>G - IntronicSNV - 14/14
10-104389932-T-G SUFU c.*20T>G - 3-UTRSNV 12/12 -
9-139395311-G-A NOTCH1 c.5639-12C>T - IntronicSNV - 30/33
9-87391099-A-G NTRK2 c.1396+24099A>G - IntronicSNV - 14/14
9-87420415-T-C NTRK2 c.1397-5042T>C - IntronicSNV - 14/14
13-32890572-G-C BRCA2 c.1-26G>C - 5-UTRSNV 2/27 -
9-87385256-A-T NTRK2 c.1396+18256A>T - IntronicSNV - 14/14
11-534197-C-T HRAS c.111+15G>A - IntronicSNV - 2/5
4-55946354-G-T KDR c.3849-24C>A - IntronicSNV - 29/29
9-139395311-G-C NOTCH1 c.5639-12C>G - IntronicSNV - 30/33
5-67593432-C-T PIK3R1 c.*3C>T - 3-UTRSNV 10/10 -
5-67593432-C-A PIK3R1 c.*3C>A - 3-UTRSNV 10/10 -
9-87426248-A-G NTRK2 c.*754A>G - 3-UTRSNV 15/15 -
9-87372097-G-A NTRK2 c.1396+5097G>A - IntronicSNV - 14/14
17-41243725-T-C BRCA1 c.3823A>G p.Ile1275Val Missense 10/23 -
10-123279795-C-T FGFR2 c.749-112G>A - IntronicSNV - 6/17
10-103870936-G-A LDB1 c.174-35C>T - IntronicSNV - 3/10
9-87402990-T-C NTRK2 c.1397-22467T>C - IntronicSNV - 14/14
4-1803704-T-C FGFR3 c.882T>C p.Asn294Asn Synonymous 7/18 -
9-133760029-C-G ABL1 c.2409C>G p.Pro803Pro Synonymous 11/11 -
9-133760029-C-A ABL1 c.2409C>A p.Pro803Pro Synonymous 11/11 -
4-55524168-T-C KIT c.1-14T>C - 5-UTRSNV 1/21 -
4-55524168-T-A KIT c.1-14T>A - 5-UTRSNV 1/21 -
5-131972916-A-G RAD50 c.3475+24A>G - IntronicSNV - 22/24
22-24176339-G-A SMARCB1 c.1130G>A p.Arg377His Missense 9/9 -
12-18443809-C-T PIK3C2G c.782C>T p.Ala261Val Missense 4/32 -
22-30057302-C-T NF2 c.784C>T p.Arg262* Nonsense 8/16 -
9-87415554-G-C NTRK2 c.1397-9903G>C - IntronicSNV - 14/14
5-149460343-G-A CSF1R c.294C>T p.His98His Synonymous 3/22 -
2-48010558-C-A MSH6 c.186C>A p.Arg62Arg Synonymous 1/10 -
12-25362777-A-G KRAS c.*73T>C - 3_prime_UTR_variant 6/6 -
12-25362777-A-T KRAS c.*73T>A - 3_prime_UTR_variant 6/6 -
17-78078888-GG-AT GAA c.503_504delGGinsAT p.Arg168His Missense 2/20 -
10-131506190-C-T MGMT c.250C>T p.Leu84Phe Missense 3/5 -
8-134025870-C-G TG c.6423C>G p.Leu2141Leu Synonymous 37/48 -
12-49437399-T-G KMT2D c.5467+19A>C - IntronicSNV - 23/53
3-47162661-A-G SETD2 c.3465T>C p.Asn1155Asn Synonymous 3/21 -
8-134025870-C-T TG c.6423C>T p.Leu2141Leu Synonymous 37/48 -
4-55593919-C-G KIT c.1775-70C>G - IntronicSNV - 11/20
9-139405181-G-A NOTCH1 c.2664C>T p.His888His Synonymous 17/34 -
7-138533444-G-A KIAA1549 c.5294+3525C>T - IntronicSNV - 17/19
9-87376728-G-A NTRK2 c.1396+9728G>A - IntronicSNV - 14/14
4-55524304-T-C KIT c.67+56T>C - IntronicSNV - 1/20
7-128846328-G-C SMO c.1164G>C p.Gly388Gly Synonymous 6/12 -
7-128846328-G-T SMO c.1164G>T p.Gly388Gly Synonymous 6/12 -
14-105241378-C-A AKT1 c.567+35G>T - IntronicSNV - 6/13
9-21970916-C-T CDKN2A c.442G>A p.Ala148Thr Missense 2/3 -
9-21970916-C-A CDKN2A c.442G>T p.Ala148Ser Missense 2/3 -
9-21970916-C-G CDKN2A c.442G>C p.Ala148Pro Missense 2/3 -
9-87388848-G-A NTRK2 c.1396+21848G>A - IntronicSNV - 14/14
9-110249505-C-T KLF4 c.1100-32G>A - IntronicSNV - 3/4
17-78091461-C-A GAA c.2394C>A p.Ile798Ile Synonymous 17/20 -
7-140491678-G-A BRAF c.1140+2430C>T - IntronicSNV - 8/17
9-87419789-C-G NTRK2 c.1397-5668C>G - IntronicSNV - 14/14
9-21968199-C-A CDKN2A c.*29G>T - 3-UTRSNV 3/3 -
9-87416027-A-T NTRK2 c.1397-9430A>T - IntronicSNV - 14/14
4-72649716-A-C GC c.20T>G p.Leu7Arg Missense 1/13 -
17-78090902-G-T GAA c.2325G>T p.Leu775Leu Synonymous 16/20 -
7-116339282-G-A MET c.144G>A p.Ala48Ala Synonymous 2/21 -
12-121437114-G-T HNF1A c.1545G>T p.Thr515Thr Synonymous 8/10 -
12-121437114-G-A HNF1A c.1545G>A p.Thr515Thr Synonymous 8/10 -
13-32913055-A-T BRCA2 c.4563A>T p.Leu1521Leu Synonymous 11/27 -
7-138546951-T-C KIAA1549 c.4930-749A>G - IntronicSNV - 15/19
9-87368417-G-A NTRK2 c.1396+1417G>A - IntronicSNV - 14/14
1-120612034-T-G NOTCH2 c.1-14A>C - 5-UTRSNV 1/34 -
1-120612034-T-C NOTCH2 c.1-14A>G - 5-UTRSNV 1/34 -
17-78081473-C-T GAA c.810C>T p.Ser270Ser Synonymous 4/20 -
9-139400219-G-A NOTCH1 c.4129C>T p.Pro1377Ser Missense 25/34 -
12-49437399-T-A KMT2D c.5467+19A>T - IntronicSNV - 23/53
4-55146389-C-T PDGFRA c.2157-94C>T - IntronicSNV - 15/22
17-29553485-G-A NF1 c.2034G>A p.Pro678Pro Synonymous 18/57 -
17-29553485-G-C NF1 c.2034G>C p.Pro678Pro Synonymous 18/57 -
9-21968199-C-G CDKN2A c.*29G>C - 3-UTRSNV 3/3 -
2-29543663-T-C ALK c.1500A>G p.Gln500Gln Synonymous 7/29 -
1-45292866-G-C PTCH2 c.2487C>G p.Asp829Glu Missense 16/22 -
1-45292866-G-A PTCH2 c.2487C>T p.Asp829Asp Synonymous 16/22 -
9-87395322-C-T NTRK2 c.1396+28322C>T - IntronicSNV - 14/14
5-149456771-C-A CSF1R c.889+68G>T - IntronicSNV - 6/21
7-55210187-A-G EGFR c.240+57A>G - IntronicSNV - 2/27
12-49418435-A-C KMT2D c.15978T>G p.Leu5326Leu Synonymous 50/54 -
8-134025870-C-A TG c.6423C>A p.Leu2141Leu Synonymous 37/48 -
2-29543663-T-G ALK c.1500A>C p.Gln500His Missense 7/29 -
4-72622593-G-T GC c.870C>A p.Ser290Ser Synonymous 8/13 -
22-30067836-C-T NF2 c.1021C>T p.Arg341* Nonsense 11/16 -
4-72623855-A-G GC c.735T>C p.Thr245Thr Synonymous 7/13 -
4-72623855-A-T GC c.735T>A p.Thr245Thr Synonymous 7/13 -
12-49424534-G-T KMT2D c.13689C>A p.Pro4563Pro Synonymous 41/54 -
4-1807478-G-C FGFR3 c.1647G>C p.Gly549Gly Synonymous 13/18 -
2-158630729-C-T ACVR1 c.544-30G>A - IntronicSNV - 5/10
7-138542482-C-T KIAA1549 c.5247+3403G>A - IntronicSNV - 16/19
8-133906029-T-G TG c.2856T>G p.Pro952Pro Synonymous 11/48 -
8-133906029-T-A TG c.2856T>A p.Pro952Pro Synonymous 11/48 -
8-133906029-T-C TG c.2856T>C p.Pro952Pro Synonymous 11/48 -
3-9787527-C-T BRPF1 c.3237C>T p.Gly1079Gly Synonymous 12/14 -
13-48947469-G-T RB1 c.1128-72G>T - IntronicSNV - 11/26
2-242680375-C-T D2HGDH c.293-73C>T - IntronicSNV - 2/9
9-87425973-G-A NTRK2 c.*479G>A - 3-UTRSNV 15/15 -
3-47168122-G-C SETD2 c.87+16C>G - IntronicSNV - 2/20
3-47168122-G-A SETD2 c.87+16C>T - IntronicSNV - 2/20
9-98239190-G-C PTCH1 c.1504-51C>G - IntronicSNV - 10/23
13-28623759-C-T FLT3 c.882+13G>A - IntronicSNV - 7/23
18-52895418-G-A TCF4 c.*38C>T - IntronicSNV - 19/19
22-30067836-C-G NF2 c.1021C>G p.Arg341Gly Missense 11/16 -
9-87423279-T-A NTRK2 c.1397-2178T>A - IntronicSNV - 14/14
17-41262549-G-A BRCA1 c.135-3999C>T - IntronicSNV - 3/22
13-28622356-G-A FLT3 c.1205+56C>T - IntronicSNV - 9/23
1-45296752-C-T PTCH2 c.618-37G>A - IntronicSNV - 5/21
16-85704584-A-G GSE1 c.3416-17A>G - IntronicSNV - 14/15
7-138530643-C-G KIAA1549 c.5295-1424G>C - IntronicSNV - 17/19
7-138530643-C-T KIAA1549 c.5295-1424G>A - IntronicSNV - 17/19
14-105241378-C-T AKT1 c.567+35G>A - IntronicSNV - 6/13
7-138550097-G-A KIAA1549 c.4929+2624C>T - IntronicSNV - 15/19
8-38272542-C-G FGFR1 c.1849-123G>C - IntronicSNV - 13/17
16-71602618-G-A TAT c.1220C>T p.Ala407Val Missense 11/12 -
9-87407766-T-C NTRK2 c.1397-17691T>C - IntronicSNV - 14/14
9-87361267-T-C NTRK2 c.1296+1279T>C - IntronicSNV - 13/14
6-26045929-T-C HIST1H3C c.291T>C p.Cys97Cys Synonymous 1/1 -
6-26045929-T-G HIST1H3C c.291T>G p.Cys97Trp Missense 1/1 -
9-87380673-G-A NTRK2 c.1396+13673G>A - IntronicSNV - 14/14
17-78090902-G-C GAA c.2325G>C p.Leu775Leu Synonymous 16/20 -
17-78090902-G-A GAA c.2325G>A p.Leu775Leu Synonymous 16/20 -
7-55248926-T-C EGFR c.2284-60T>C - IntronicSNV - 19/27
5-149456811-G-A CSF1R c.889+28C>T - IntronicSNV - 6/21
16-85690786-G-C GSE1 c.1313-97G>C - IntronicSNV - 7/15
2-29416572-T-C ALK c.4381A>G p.Ile1461Val Missense 29/29 -
6-157405761-G-A ARID1B c.2038-35G>A - IntronicSNV - 5/19
9-87422234-T-C NTRK2 c.1397-3223T>C - IntronicSNV - 14/14
1-120484421-G-A NOTCH2 c.2753-44C>T - IntronicSNV - 17/33
7-138530289-G-A KIAA1549 c.5295-1070C>T - IntronicSNV - 17/19
9-87370869-C-T NTRK2 c.1396+3869C>T - IntronicSNV - 14/14
9-87404815-G-A NTRK2 c.1397-20642G>A - IntronicSNV - 14/14
4-55138648-T-C PDGFRA c.1325T>C p.Leu442Pro Missense 9/23 -
22-24167513-G-A SMARCB1 c.897G>A p.Ser299Ser Synonymous 7/9 -
22-24167513-G-T SMARCB1 c.897G>T p.Ser299Ser Synonymous 7/9 -
1-78433801-T-C FUBP1 c.250+48A>G - IntronicSNV - 3/19
1-78433801-T-A FUBP1 c.250+48A>T - IntronicSNV - 3/19
1-78433801-T-G FUBP1 c.250+48A>C - IntronicSNV - 3/19
7-138530782-A-G KIAA1549 c.5295-1563T>C - IntronicSNV - 17/19
7-138538088-T-C KIAA1549 c.5248-1073A>G - IntronicSNV - 16/19
11-108180917-T-G ATM c.5793T>G p.Ala1931Ala Synonymous 39/63 -
2-158637138-A-G ACVR1 c.68-26T>C - IntronicSNV - 3/10
17-78078775-A-G GAA c.390A>G p.Pro130Pro Synonymous 2/20 -
9-87398796-T-G NTRK2 c.1397-26661T>G - IntronicSNV - 14/14
17-78078775-A-T GAA c.390A>T p.Pro130Pro Synonymous 2/20 -
9-87398796-T-C NTRK2 c.1397-26661T>C - IntronicSNV - 14/14
10-103868957-A-G LDB1 c.857-23T>C - IntronicSNV - 9/10
7-55214443-G-A EGFR c.559+10G>A - IntronicSNV - 4/27
4-72618337-A-T GC c.1293T>A p.Pro431Pro Synonymous 11/13 -
7-128843396-G-A SMO c.503G>A p.Arg168His Missense 2/12 -
19-11113997-G-A SMARCA4 c.1944-19G>A - IntronicSNV - 12/34
14-105236557-G-A AKT1 c.*121C>T - 3-UTRSNV 14/14 -
14-105236557-G-C AKT1 c.*121C>G - 3-UTRSNV 14/14 -
13-32913055-A-G BRCA2 c.4563A>G p.Leu1521Leu Synonymous 11/27 -
5-131911535-A-T RAD50 c.280A>T p.Ile94Leu Missense 3/25 -
5-131911535-A-C RAD50 c.280A>C p.Ile94Leu Missense 3/25 -
12-57492745-G-A STAT6 c.1955+53C>T - IntronicSNV - 17/21
8-133900638-C-G TG c.2586C>G p.Leu862Leu Synonymous 10/48 -
8-133900638-C-T TG c.2586C>T p.Leu862Leu Synonymous 10/48 -
9-87409311-C-G NTRK2 c.1397-16146C>G - IntronicSNV - 14/14
17-78085792-G-T GAA c.1647G>T p.Gly549Gly Synonymous 12/20 -
17-78085792-G-A GAA c.1647G>A p.Gly549Gly Synonymous 12/20 -
18-52895531-T-C TCF4 c.1929A>G p.Ser643Ser Synonymous 19/20 -
13-32913055-A-C BRCA2 c.4563A>C p.Leu1521Leu Synonymous 11/27 -
17-78082498-C-T GAA c.1197C>T p.Asp399Asp Synonymous 8/20 -
12-49442875-G-A KMT2D c.4020+13C>T - IntronicSNV - 12/53
16-71602662-G-A TAT c.1176C>T p.Phe392Phe Synonymous 11/12 -
16-85704584-A-C GSE1 c.3416-17A>C - IntronicSNV - 14/15
10-103869282-G-A LDB1 c.733-18C>T - IntronicSNV - 8/10
8-133945889-A-G TG c.4900A>G p.Ser1634Gly Missense 24/48 -
9-87373318-A-G NTRK2 c.1396+6318A>G - IntronicSNV - 14/14
8-133899342-A-T TG c.1725A>T p.Pro575Pro Synonymous 9/48 -
8-133899342-A-C TG c.1725A>C p.Pro575Pro Synonymous 9/48 -
8-133899342-A-G TG c.1725A>G p.Pro575Pro Synonymous 9/48 -
11-108143456-C-A ATM c.3161C>A p.Pro1054His Missense 22/63 -
11-108143456-C-G ATM c.3161C>G p.Pro1054Arg Missense 22/63 -
2-242674959-T-G D2HGDH c.292+28T>G - IntronicSNV - 2/9
2-162274847-G-C TBR1 c.969+14G>C - IntronicSNV - 3/5
13-32929387-T-C BRCA2 c.7397T>C p.Val2466Ala Missense 14/27 -
X-44938563-G-A KDM6A c.3111G>A p.Gln1037Gln Synonymous 20/29 -
9-87408978-C-T NTRK2 c.1397-16479C>T - IntronicSNV - 14/14
2-47693959-G-T MSH2 c.1661+12G>T - IntronicSNV - 10/15
16-68863752-G-A CDH1 c.2439+52G>A - IntronicSNV - 15/15
7-128846469-A-G SMO c.1264+41A>G - IntronicSNV - 6/11
1-120611715-A-G NOTCH2 c.73+233T>C - IntronicSNV - 1/33
9-87409862-T-C NTRK2 c.1397-15595T>C - IntronicSNV - 14/14
5-146648326-C-A STK32A c.53-9361C>A - IntronicSNV - 2/6
9-87401314-A-G NTRK2 c.1397-24143A>G - IntronicSNV - 14/14
7-148510993-A-G EZH2 c.1851+58T>C - IntronicSNV - 15/19
9-139413908-C-T NOTCH1 c.852G>A p.Pro284Pro Synonymous 5/34 -
9-139413908-C-A NOTCH1 c.852G>T p.Pro284Pro Synonymous 5/34 -
9-139413908-C-G NOTCH1 c.852G>C p.Pro284Pro Synonymous 5/34 -
16-71610202-GG-AG TAT c.116_117delCCinsAG p.Ala39Glu Missense 2/12 -
7-128846207-G-A SMO c.1137G>A p.Ala379Ala Synonymous 5/12 -
4-55161254-C-T PDGFRA c.3123-38C>T - IntronicSNV - 22/22
17-78086398-G-T GAA c.1776G>T p.Gly592Gly Synonymous 13/20 -
17-78086398-G-A GAA c.1776G>A p.Gly592Gly Synonymous 13/20 -
8-133899688-GGA-AGC TG c.2071_2073delGGAinsAGC p.Gly691Ser Missense 9/48 -
1-120458924-G-A NOTCH2 c.6421C>T p.Leu2141Leu Synonymous 34/34 -
1-120611830-G-T NOTCH2 c.73+118C>A - IntronicSNV - 1/33
9-87413046-G-C NTRK2 c.1397-12411G>C - IntronicSNV - 14/14
19-3119406-G-T GNA11 c.889+49G>T - IntronicSNV - 6/6
12-57486033-A-C NAB2 c.958-198A>C - IntronicSNV - 2/6
12-57486033-A-T NAB2 c.958-198A>T - IntronicSNV - 2/6
16-71604659-C-T TAT c.835G>A p.Ala279Thr Missense 8/12 -
5-112162854-T-C APC c.1458T>C p.Tyr486Tyr Synonymous 12/16 -
7-116335811-A-T MET c.1-3328A>T - IntronicSNV - 1/20
5-112176559-T-A APC c.5268T>A p.Ser1756Ser Synonymous 16/16 -
19-11145825-C-A SMARCA4 c.4170+17C>A - IntronicSNV - 29/34
17-41234470-A-G BRCA1 c.4308T>C p.Ser1436Ser Synonymous 12/23 -
19-11145825-C-T SMARCA4 c.4170+17C>T - IntronicSNV - 29/34
4-55133726-T-G PDGFRA c.939T>G p.Gly313Gly Synonymous 7/23 -
9-87395111-C-G NTRK2 c.1396+28111C>G - IntronicSNV - 14/14
7-128852021-C-T SMO c.2093C>T p.Pro698Leu Missense 12/12 -
5-149435608-G-C CSF1R c.2535C>G p.Leu845Leu Synonymous 19/22 -
22-30038152-A-C NF2 c.364-39A>C - IntronicSNV - 3/15
10-104264107-C-T SUFU c.182+16C>T - IntronicSNV - 1/11
10-104264107-C-G SUFU c.182+16C>G - IntronicSNV - 1/11
7-128852021-C-G SMO c.2093C>G p.Pro698Arg Missense 12/12 -
6-108882830-C-T FOXO3 c.419C>T p.Ala140Val Missense 1/3 -
16-71606095-G-A TAT c.700C>T p.Leu234Leu Synonymous 6/12 -
22-21346719-A-C LZTR1 c.1149+61A>C - IntronicSNV - 10/20
5-149433857-C-G CSF1R c.2763+28G>C - IntronicSNV - 21/21
X-123171448-T-C STAG2 c.360T>C p.Phe120Phe Synonymous 5/33 -
8-133899309-C-A TG c.1692C>A p.Ala564Ala Synonymous 9/48 -
9-98238379-A-G PTCH1 c.1665T>C p.Asn555Asn Synonymous 12/24 -
19-17943383-G-A JAK3 c.2625C>T p.Leu875Leu Synonymous 19/24 -
10-104356822-A-T SUFU c.757-75A>T - IntronicSNV - 6/11
10-104356822-A-G SUFU c.757-75A>G - IntronicSNV - 6/11
12-18649057-C-T PIK3C2G c.2732C>T p.Pro911Leu Missense 20/32 -
9-87398104-G-A NTRK2 c.1397-27353G>A - IntronicSNV - 14/14
2-48027520-G-A MSH6 c.2398G>A p.Val800Ile Missense 4/10 -
7-138551986-G-C KIAA1549 c.4929+735C>G - IntronicSNV - 15/19
9-2073708-G-T SMARCA2 c.1935+85G>T - IntronicSNV - 12/33
13-28602292-T-C FLT3 c.2053+23A>G - IntronicSNV - 16/23
17-78078550-T-C GAA c.165T>C p.Ala55Ala Synonymous 2/20 -
7-138534445-C-A KIAA1549 c.5294+2524G>T - IntronicSNV - 17/19
5-161119071-G-T GABRA6 c.951G>T p.Ala317Ala Synonymous 8/9 -
10-104359350-T-G SUFU c.1022+49T>G - IntronicSNV - 8/11
10-104359350-T-C SUFU c.1022+49T>C - IntronicSNV - 8/11
9-87430491-T-C NTRK2 c.*4997T>C - 3-UTRSNV 15/15 -
14-95556747-A-T DICER1 c.*88T>A - 3-UTRSNV 29/29 -
14-105239192-T-C AKT1 c.1172+23A>G - IntronicSNV - 11/13
7-140476936-G-A BRAF c.1518-48C>T - IntronicSNV - 12/17
7-138540621-T-TT KIAA1549 c.5248-3606_5248-3606dup - IntronicInsertion - 16/19
9-87413890-C-G NTRK2 c.1397-11567C>G - IntronicSNV - 14/14
9-87413890-C-A NTRK2 c.1397-11567C>A - IntronicSNV - 14/14
9-87426298-A-T NTRK2 c.*804A>T - 3-UTRSNV 15/15 -
17-78079554-G-C GAA c.553G>C p.Asp185His Missense 3/20 -
9-87409314-G-A NTRK2 c.1397-16143G>A - IntronicSNV - 14/14
9-22006273-G-T CDKN2B c.157-27C>A - IntronicSNV - 1/1
3-142178144-C-T ATR c.7274G>A p.Arg2425Gln Missense 43/47 -
9-87414230-T-A NTRK2 c.1397-11227T>A - IntronicSNV - 14/14
12-49427789-C-T KMT2D c.10741-42G>A - IntronicSNV - 38/53
7-140483605-C-T BRAF c.1178-648G>A - IntronicSNV - 9/17
9-22006273-G-A CDKN2B c.157-27C>T - IntronicSNV - 1/1
9-22006273-G-C CDKN2B c.157-27C>G - IntronicSNV - 1/1
16-2112516-C-T TSC2 c.1276C>T p.Leu426Leu Synonymous 13/42 -
10-104387019-T-C SUFU c.1365+19T>C - IntronicSNV - 11/11
9-98231008-A-G PTCH1 c.2250+25T>C - IntronicSNV - 14/23
9-87420415-T-A NTRK2 c.1397-5042T>A - IntronicSNV - 14/14
13-32890572-G-T BRCA2 c.1-26G>T - 5-UTRSNV 2/27 -
13-32890572-G-A BRCA2 c.1-26G>A - 5-UTRSNV 2/27 -
9-139405154-G-A NOTCH1 c.2691C>T p.Ala897Ala Synonymous 17/34 -
16-2112516-C-G TSC2 c.1276C>G p.Leu426Val Missense 13/42 -
9-87420423-C-T NTRK2 c.1397-5034C>T - IntronicSNV - 14/14
9-87420423-C-A NTRK2 c.1397-5034C>A - IntronicSNV - 14/14
16-2138398-C-T TSC2 c.5260-49C>T - IntronicSNV - 41/41
12-49426460-A-G KMT2D c.12028T>C p.Ser4010Pro Missense 39/54 -
1-27100243-C-T ARID1A c.4004+35C>T - IntronicSNV - 16/19
12-121437221-T-C HNF1A c.1623+29T>C - IntronicSNV - 8/9
6-157405930-G-A ARID1B c.2172G>A p.Ala724Ala Synonymous 6/20 -
6-157405930-G-T ARID1B c.2172G>T p.Ala724Ala Synonymous 6/20 -
19-3119405-T-C GNA11 c.889+48T>C - IntronicSNV - 6/6
8-39873053-G-A IDO2 c.1195G>A p.Ala399Thr Missense 11/11 -
10-98639097-T-C LCOR c.-329-27925T>C - intron_variant - 2/7
1-45292866-G-T PTCH2 c.2487C>A p.Asp829Glu Missense 16/22 -
2-29462520-G-A ALK c.2355+26C>T - IntronicSNV - 13/28
2-29462520-G-T ALK c.2355+26C>A - IntronicSNV - 13/28
7-128850341-G-T SMO c.1604G>T p.Trp535Leu Missense 9/12 -
4-55133959-C-T PDGFRA c.1121+51C>T - IntronicSNV - 7/22
13-28602256-C-T FLT3 c.2053+59G>A - IntronicSNV - 16/23
11-108180917-T-C ATM c.5793T>C p.Ala1931Ala Synonymous 39/63 -
9-87384733-G-A NTRK2 c.1396+17733G>A - IntronicSNV - 14/14
9-87384733-G-C NTRK2 c.1396+17733G>C - IntronicSNV - 14/14
7-128846398-C-T SMO c.1234C>T p.Leu412Phe Missense 6/12 -
9-87358664-T-C NTRK2 c.1196-1224T>C - IntronicSNV - 12/14
5-112116632-C-T APC c.645+32C>T - IntronicSNV - 6/15
10-123298158-T-A FGFR2 c.696A>T p.Val232Val Synonymous 6/18 -
9-110249348-T-G KLF4 c.1225A>C p.Lys409Gln Missense 4/5 -
4-55961159-T-C KDR c.2818-37A>G - IntronicSNV - 20/29
4-72622548-G-A GC c.915C>T p.Ala305Ala Synonymous 8/13 -
4-72622548-G-T GC c.915C>A p.Ala305Ala Synonymous 8/13 -
19-11145825-C-G SMARCA4 c.4170+17C>G - IntronicSNV - 29/34
4-72629590-G-C GC c.537C>G p.Thr179Thr Synonymous 5/13 -
7-55240882-G-A EGFR c.2061+65G>A - IntronicSNV - 17/27
19-11113651-T-C SMARCA4 c.1813-54T>C - IntronicSNV - 11/34
4-55140031-T-G PDGFRA c.1558+134T>G - IntronicSNV - 10/22
4-55125058-A-T PDGFRA c.49+74A>T - IntronicSNV - 2/22
18-48577782-G-A SMAD4 c.454+2088G>A - IntronicSNV - 4/11
18-48577782-G-C SMAD4 c.454+2088G>C - IntronicSNV - 4/11
17-78078625-CA-C GAA c.240delA p.Gln81Serfs*61 Frameshift 2/20 -
12-121431300-C-T HNF1A c.527-23C>T - IntronicSNV - 2/9
4-55161295-G-T PDGFRA c.3126G>T p.Ser1042Ser Synonymous 23/23 -
16-68857289-T-C CDH1 c.1937-13T>C - IntronicSNV - 12/15
2-242674803-G-C D2HGDH c.164G>C p.Arg55Pro Missense 2/10 -
2-242674803-G-A D2HGDH c.164G>A p.Arg55Gln Missense 2/10 -
16-2110805-G-A TSC2 c.1110G>A p.Gln370Gln Synonymous 11/42 -
20-57484363-G-T GNAS c.586-42G>T - IntronicSNV - 7/12
9-87360720-G-T NTRK2 c.1296+732G>T - IntronicSNV - 13/14
9-87386499-A-T NTRK2 c.1396+19499A>T - IntronicSNV - 14/14
7-140487202-C-T BRAF c.1177+146G>A - IntronicSNV - 9/17
19-3119405-T-A GNA11 c.889+48T>A - IntronicSNV - 6/6
9-2029199-G-A SMARCA2 c.177G>A p.Thr59Thr Synonymous 2/34 -
7-148525904-C-G EZH2 c.553G>C p.Asp185His Missense 6/20 -
7-55238941-G-C EGFR c.1919+35G>C - IntronicSNV - 16/27
7-55238941-G-A EGFR c.1919+35G>A - IntronicSNV - 16/27
5-131915213-G-A RAD50 c.551+19G>A - IntronicSNV - 4/24
9-87409311-C-T NTRK2 c.1397-16146C>T - IntronicSNV - 14/14
17-78081635-CC-C GAA c.895delC p.Leu299Trpfs*15 Frameshift 5/20 -
13-28589495-C-G FLT3 c.2654-102G>C - IntronicSNV - 21/23
17-41244435-T-G BRCA1 c.3113A>C p.Glu1038Ala Missense 10/23 -
7-138535479-G-C KIAA1549 c.5294+1490C>G - IntronicSNV - 17/19
13-53421432-C-A PCDH8 c.1140G>T p.Gly380Gly Synonymous 1/3 -
6-33288271-A-G DAXX c.1137T>C p.Tyr379Tyr Synonymous 4/8 -
7-140487202-C-A BRAF c.1177+146G>T - IntronicSNV - 9/17
17-78090882-T-C GAA c.2305T>C p.Leu769Leu Synonymous 16/20 -
13-32912299-T-G BRCA2 c.3807T>G p.Val1269Val Synonymous 11/27 -
13-32912299-T-C BRCA2 c.3807T>C p.Val1269Val Synonymous 11/27 -
5-35000312-T-G AGXT2 c.1438-1381A>C - IntronicSNV - 13/13
5-35000312-T-C AGXT2 c.1438-1381A>G - IntronicSNV - 13/13
11-108175462-G-A ATM c.5557G>A p.Asp1853Asn Missense 37/63 -
17-41215385-T-C BRCA1 c.5158A>G p.Thr1720Ala Missense 18/23 -
16-71602640-TG-T TAT c.1198delC p.Gln400Serfs*26 Frameshift 11/12 -
8-133906135-C-T TG c.2962C>T p.Arg988Cys Missense 11/48 -
13-28589267-C-T FLT3 c.2753+27G>A - IntronicSNV - 22/23
X-76938153-G-C ATRX c.2595C>G p.His865Gln Missense 9/35 -
7-138534971-G-C KIAA1549 c.5294+1998C>G - IntronicSNV - 17/19
9-87391128-G-T NTRK2 c.1396+24128G>T - IntronicSNV - 14/14
9-87391128-G-A NTRK2 c.1396+24128G>A - IntronicSNV - 14/14
9-87391128-G-C NTRK2 c.1396+24128G>C - IntronicSNV - 14/14
4-72622593-G-A GC c.870C>T p.Ser290Ser Synonymous 8/13 -
17-78091543-C-T GAA c.2476C>T p.Leu826Leu Synonymous 17/20 -
3-47162661-A-T SETD2 c.3465T>A p.Asn1155Lys Missense 3/21 -
9-87404026-A-G NTRK2 c.1397-21431A>G - IntronicSNV - 14/14
11-108236264-C-G ATM c.*29C>G - 3-UTRSNV 63/63 -
9-87393013-C-T NTRK2 c.1396+26013C>T - IntronicSNV - 14/14
9-87426054-G-A NTRK2 c.*560G>A - 3-UTRSNV 15/15 -
17-41223094-T-C BRCA1 c.4837A>G p.Ser1613Gly Missense 15/23 -
18-52928807-C-T TCF4 c.923-43G>A - IntronicSNV - 11/19
9-87359443-C-T NTRK2 c.1196-445C>T - IntronicSNV - 12/14
17-41246481-T-C BRCA1 c.1067A>G p.Gln356Arg Missense 10/23 -
17-29654876-T-A NF1 c.5546+19T>A - IntronicSNV - 37/56
16-68862165-C-G CDH1 c.2253C>G p.Asn751Lys Missense 14/16 -
4-72649687-A-G GC c.49T>C p.Leu17Leu Synonymous 1/13 -
9-87399837-A-G NTRK2 c.1397-25620A>G - IntronicSNV - 14/14
9-87369568-G-A NTRK2 c.1396+2568G>A - IntronicSNV - 14/14
9-87405888-C-T NTRK2 c.1397-19569C>T - IntronicSNV - 14/14
1-78444734-C-T FUBP1 c.1-46G>A - 5-UTRSNV 1/20 -
7-55229255-G-A EGFR c.1562G>A p.Arg521Lys Missense 13/28 -
7-138550994-G-A KIAA1549 c.4929+1727C>T - IntronicSNV - 15/19
7-138550994-G-C KIAA1549 c.4929+1727C>G - IntronicSNV - 15/19
22-21337415-C-G LZTR1 c.263+37C>G - IntronicSNV - 2/20
12-49424616-G-A KMT2D c.13671+60C>T - IntronicSNV - 40/53
19-3110349-T-A GNA11 c.321+18T>A - IntronicSNV - 2/6
19-3110349-T-G GNA11 c.321+18T>G - IntronicSNV - 2/6
9-87416185-G-T NTRK2 c.1397-9272G>T - IntronicSNV - 14/14
12-4388084-C-T CCND2 c.570C>T p.Thr190Thr Synonymous 3/5 -
12-121435342-C-T HNF1A c.1375C>T p.Leu459Leu Synonymous 7/10 -
9-87395810-A-G NTRK2 c.1396+28810A>G - IntronicSNV - 14/14
16-2105400-C-T TSC2 c.482-3C>T - IntronicSNV - 5/41
5-131951692-T-C RAD50 c.3037-3T>C - IntronicSNV - 19/24
13-48947503-C-A RB1 c.1128-38C>A - IntronicSNV - 11/26
7-148508833-A-C EZH2 c.1852-21T>G - IntronicSNV - 15/19
16-2138269-T-C TSC2 c.5202T>C p.Asp1734Asp Synonymous 41/42 -
19-17955021-G-A JAK3 c.184+22C>T - IntronicSNV - 2/23
7-148508833-A-T EZH2 c.1852-21T>A - IntronicSNV - 15/19
19-3119405-T-G GNA11 c.889+48T>G - IntronicSNV - 6/6
10-43620335-C-T RET c.2944C>T p.Arg982Cys Missense 18/20 -
6-157507504-C-T ARID1B c.3550+1935C>T - IntronicSNV - 13/19
17-41245471-C-A BRCA1 c.2077G>T p.Asp693Tyr Missense 10/23 -
2-29449819-C-T ALK c.3036G>A p.Thr1012Thr Synonymous 18/29 -
13-32914236-C-T BRCA2 c.5744C>T p.Thr1915Met Missense 11/27 -
7-116340262-A-G MET c.1124A>G p.Asn375Ser Missense 2/21 -
4-1801511-C-A FGFR3 c.417C>A p.Asp139Glu Missense 4/18 -
1-45307506-G-A PTCH2 c.265+13C>T - IntronicSNV - 2/21
9-87371365-G-T NTRK2 c.1396+4365G>T - IntronicSNV - 14/14
17-41245471-C-T BRCA1 c.2077G>A p.Asp693Asn Missense 10/23 -
1-120460916-A-C NOTCH2 c.5929+113T>G - IntronicSNV - 32/33
14-105239146-C-G AKT1 c.1172+69G>C - IntronicSNV - 11/13
8-133894159-G-A TG c.690G>A p.Glu230Glu Synonymous 6/48 -
8-133900299-C-T TG c.2247C>T p.Ser749Ser Synonymous 10/48 -
8-133900299-C-A TG c.2247C>A p.Ser749Ser Synonymous 10/48 -
8-133900299-C-G TG c.2247C>G p.Ser749Ser Synonymous 10/48 -
13-48947469-G-A RB1 c.1128-72G>A - IntronicSNV - 11/26
10-43606687-A-G RET c.1296A>G p.Ala432Ala Synonymous 7/20 -
13-28623699-G-T FLT3 c.883-25C>A - IntronicSNV - 7/23
5-112176325-G-A APC c.5034G>A p.Gly1678Gly Synonymous 16/16 -
4-55130078-T-C PDGFRA c.612T>C p.Asn204Asn Synonymous 4/23 -
16-2136842-C-A TSC2 c.4959C>A p.Ser1653Ser Synonymous 38/42 -
16-2136842-C-T TSC2 c.4959C>T p.Ser1653Ser Synonymous 38/42 -
11-63531094-C-T C11orf95 c.1833G>A p.Thr611Thr Synonymous 5/5 -
16-2136842-C-G TSC2 c.4959C>G p.Ser1653Ser Synonymous 38/42 -
3-37050254-T-C MLH1 c.454-51T>C - IntronicSNV - 5/18
11-63531094-C-G C11orf95 c.1833G>C p.Thr611Thr Synonymous 5/5 -
12-49445028-G-A KMT2D c.2438C>T p.Pro813Leu Missense 10/54 -
19-17946054-G-A JAK3 c.1915-30C>T - IntronicSNV - 14/23
9-87418964-G-T NTRK2 c.1397-6493G>T - IntronicSNV - 14/14
7-140482346-G-A BRAF c.1314+475C>T - IntronicSNV - 10/17
10-43615094-C-T RET c.2508C>T p.Ser836Ser Synonymous 14/20 -
8-133961055-T-C TG c.5268T>C p.Ser1756Ser Synonymous 27/48 -
14-95560444-G-A DICER1 c.5145C>T p.Leu1715Leu Synonymous 26/29 -
12-121432117-G-C HNF1A c.864G>C p.Gly288Gly Synonymous 4/10 -
8-39862893-T-A IDO2 c.754T>A p.Ser252Thr Missense 9/11 -
17-78092018-C-G GAA c.2508C>G p.Ser836Ser Synonymous 18/20 -
17-78092018-C-T GAA c.2508C>T p.Ser836Ser Synonymous 18/20 -
16-71605540-G-A TAT c.728C>T p.Pro243Leu Missense 7/12 -
2-48033551-C-G MSH6 c.3802-40C>G - IntronicSNV - 8/9
9-87413064-A-G NTRK2 c.1397-12393A>G - IntronicSNV - 14/14
19-17955001-C-T JAK3 c.184+42G>A - IntronicSNV - 2/23
9-87429290-A-G NTRK2 c.*3796A>G - 3-UTRSNV 15/15 -
17-41223094-T-A BRCA1 c.4837A>T p.Ser1613Cys Missense 15/23 -
9-2056861-G-GT SMARCA2 c.1347+16_1347+17insT - IntronicInsertion - 7/33
19-40748639-C-T AKT2 c.288-45G>A - IntronicSNV - 4/13
7-128845702-C-T SMO c.920+79C>T - IntronicSNV - 4/11
19-11170576-G-A SMARCA4 c.4768+15G>A - IntronicSNV - 33/34
12-18656225-G-A PIK3C2G c.2904G>A p.Gln968Gln Synonymous 22/32 -
12-49425978-T-C KMT2D c.12510A>G p.Pro4170Pro Synonymous 39/54 -
5-149460553-A-G CSF1R c.84T>C p.Pro28Pro Synonymous 3/22 -
12-57487833-C-T NAB2 c.1468+452C>T - IntronicSNV - 6/6
7-138535039-A-G KIAA1549 c.5294+1930T>C - IntronicSNV - 17/19
12-121435427-G-A HNF1A c.1460G>A p.Ser487Asn Missense 7/10 -
9-87385603-G-A NTRK2 c.1396+18603G>A - IntronicSNV - 14/14
9-87387907-A-G NTRK2 c.1396+20907A>G - IntronicSNV - 14/14
9-139402663-T-C NOTCH1 c.3325+21A>G - IntronicSNV - 20/33
9-133760617-C-T ABL1 c.2997C>T p.Pro999Pro Synonymous 11/11 -
12-49427652-C-T KMT2D c.10836G>A p.Gln3612Gln Synonymous 39/54 -
12-49427652-C-G KMT2D c.10836G>C p.Gln3612His Missense 39/54 -
9-87404086-G-C NTRK2 c.1397-21371G>C - IntronicSNV - 14/14
9-87383777-A-C NTRK2 c.1396+16777A>C - IntronicSNV - 14/14
7-138532208-G-A KIAA1549 c.5295-2989C>T - IntronicSNV - 17/19
7-55240803-C-T EGFR c.2047C>T p.Leu683Leu Synonymous 17/28 -
16-71607463-A-T TAT c.387T>A p.Pro129Pro Synonymous 4/12 -
16-71607463-A-G TAT c.387T>C p.Pro129Pro Synonymous 4/12 -
9-87393876-A-G NTRK2 c.1396+26876A>G - IntronicSNV - 14/14
10-131334511-G-C MGMT c.88G>C p.Gly30Arg Missense 2/5 -
20-57478846-C-T GNAS c.432C>T p.Pro144Pro Synonymous 5/13 -
20-57478846-C-G GNAS c.432C>G p.Pro144Pro Synonymous 5/13 -
9-87381820-C-T NTRK2 c.1396+14820C>T - IntronicSNV - 14/14
1-43804340-G-A MPL c.340G>A p.Val114Met Missense 3/12 -
6-157505418-C-T ARID1B c.3399C>T p.Thr1133Thr Synonymous 13/20 -
9-87381476-C-T NTRK2 c.1396+14476C>T - IntronicSNV - 14/14
17-78086425-G-A GAA c.1803G>A p.Ser601Ser Synonymous 13/20 -
9-87381476-C-G NTRK2 c.1396+14476C>G - IntronicSNV - 14/14
5-1294086-C-T TERT c.915G>A p.Ala305Ala Synonymous 2/15 -
7-140491258-C-T BRAF c.1140+2850G>A - IntronicSNV - 8/17
2-29541104-C-A ALK c.1647+66G>T - IntronicSNV - 8/28
2-29541104-C-G ALK c.1647+66G>C - IntronicSNV - 8/28
9-87413829-A-G NTRK2 c.1397-11628A>G - IntronicSNV - 14/14
9-87406168-C-T NTRK2 c.1397-19289C>T - IntronicSNV - 14/14
9-87382724-T-C NTRK2 c.1396+15724T>C - IntronicSNV - 14/14
12-121440263-G-A HNF1A c.*1268G>A - 3-UTRSNV 10/10 -
7-140501421-C-T BRAF c.712-61G>A - IntronicSNV - 5/17
1-120611830-G-A NOTCH2 c.73+118C>T - IntronicSNV - 1/33
4-55146406-T-TTGTAGGTCCCCCGG PDGFRA c.2157-77_2157-76insTGTAGGTCCCCCGG - IntronicInsertion - 15/22
13-28636084-G-A FLT3 c.288C>T p.Asp96Asp Synonymous 3/24 -
8-39840234-A-G IDO2 c.418A>G p.Ile140Val Missense 5/11 -
2-242690726-G-A D2HGDH c.1063G>A p.Gly355Ser Missense 8/10 -
12-4388084-C-G CCND2 c.570C>G p.Thr190Thr Synonymous 3/5 -
17-78092018-C-A GAA c.2508C>A p.Ser836Ser Synonymous 18/20 -
16-71607463-A-C TAT c.387T>G p.Pro129Pro Synonymous 4/12 -
17-41219560-C-T BRCA1 c.5074+65G>A - IntronicSNV - 16/22
7-55249063-G-C EGFR c.2361G>C p.Gln787His Missense 20/28 -
7-55249063-G-A EGFR c.2361G>A p.Gln787Gln Synonymous 20/28 -
4-72618352-T-G GC c.1278A>C p.Leu426Leu Synonymous 11/13 -
2-48023115-T-G MSH6 c.540T>G p.Asp180Glu Missense 3/10 -
2-48023115-T-C MSH6 c.540T>C p.Asp180Asp Synonymous 3/10 -
9-135786112-T-G TSC1 c.1142-33A>C - IntronicSNV - 11/22
9-135786112-T-C TSC1 c.1142-33A>G - IntronicSNV - 11/22
5-161117338-G-A GABRA6 c.805G>A p.Val269Ile Missense 7/9 -
17-78078728-C-T GAA c.343C>T p.Gln115* Nonsense 2/20 -
12-121435353-C-T HNF1A c.1386C>T p.Val462Val Synonymous 7/10 -
16-85688481-C-T GSE1 c.681C>T p.Thr227Thr Synonymous 5/16 -
5-131923710-G-A RAD50 c.980G>A p.Arg327His Missense 7/25 -
12-49438164-C-T KMT2D c.5083+22G>A - IntronicSNV - 20/53
17-78092496-T-G GAA c.2691T>G p.Ala897Ala Synonymous 19/20 -
6-157507698-G-T ARID1B c.3550+2129G>T - IntronicSNV - 13/19
11-108224615-A-C ATM c.8786+8A>C - IntronicSNV - 60/62
12-4388084-C-A CCND2 c.570C>A p.Thr190Thr Synonymous 3/5 -
17-66526027-G-T PRKAR1A c.892-34G>T - IntronicSNV - 10/11
4-55980456-C-A KDR c.659-24G>T - IntronicSNV - 5/29
9-87384174-A-G NTRK2 c.1396+17174A>G - IntronicSNV - 14/14
8-133898964-C-T TG c.1347C>T p.Pro449Pro Synonymous 9/48 -
8-133898964-C-A TG c.1347C>A p.Pro449Pro Synonymous 9/48 -
2-48033551-C-T MSH6 c.3802-40C>T - IntronicSNV - 8/9
16-71603817-CCC-AGC TAT c.1063_1065delGGGinsAGC p.Gly355Ser Missense 10/12 -
9-87416947-A-G NTRK2 c.1397-8510A>G - IntronicSNV - 14/14
9-87416947-A-T NTRK2 c.1397-8510A>T - IntronicSNV - 14/14
4-1807478-G-T FGFR3 c.1647G>T p.Gly549Gly Synonymous 13/18 -
1-204507128-T-C MDM4 c.412-209T>C - IntronicSNV - 6/10
1-120506108-G-A NOTCH2 c.1915+89C>T - IntronicSNV - 11/33
9-87363201-A-T NTRK2 c.1296+3213A>T - IntronicSNV - 13/14
9-139412197-G-C NOTCH1 c.1441+7C>G - IntronicSNV - 8/33
19-17948732-T-C JAK3 c.1701+9A>G - IntronicSNV - 12/23
7-92247539-A-G CDK6 c.699-18T>C - IntronicSNV - 6/7
8-133880361-G-A TG c.69G>A p.Glu23Glu Synonymous 2/48 -
4-55151958-T-TG PDGFRA c.2440-50_2440-49insG - IntronicInsertion - 17/22
4-55151958-T-TA PDGFRA c.2440-50_2440-49insA - IntronicInsertion - 17/22
7-55214348-C-T EGFR c.474C>T p.Asn158Asn Synonymous 4/28 -
9-139412197-G-A NOTCH1 c.1441+7C>T - IntronicSNV - 8/33
19-51323232-T-C KLK1 c.556A>G p.Lys186Glu Missense 4/5 -
19-51323232-T-G KLK1 c.556A>C p.Lys186Gln Missense 4/5 -
5-161114522-T-C GABRA6 c.225+513T>C - IntronicSNV - 3/8
3-37107190-A-G LRRFIP2 c.1699+111T>C - IntronicSNV - 23/27
10-89720907-T-G PTEN c.1026+32T>G - IntronicSNV - 8/8
4-72623855-A-C GC c.735T>G p.Thr245Thr Synonymous 7/13 -
4-1807922-G-A FGFR3 c.1959+22G>A - IntronicSNV - 14/17
13-32906729-A-C BRCA2 c.1114A>C p.Asn372His Missense 10/27 -
9-87390805-A-C NTRK2 c.1396+23805A>C - IntronicSNV - 14/14
19-17952185-G-T JAK3 c.1142+13C>A - IntronicSNV - 8/23
19-11170585-C-A SMARCA4 c.4768+24C>A - IntronicSNV - 33/34
19-11170585-C-T SMARCA4 c.4768+24C>T - IntronicSNV - 33/34
8-38277066-C-A FGFR1 c.1269G>T p.Leu423Leu Synonymous 9/18 -
4-1801511-C-T FGFR3 c.417C>T p.Asp139Asp Synonymous 4/18 -
9-133710804-T-C ABL1 c.137-18647T>C - IntronicSNV - 1/10
9-87391777-T-C NTRK2 c.1396+24777T>C - IntronicSNV - 14/14
16-68862165-C-T CDH1 c.2253C>T p.Asn751Asn Synonymous 14/16 -
5-112198128-T-C SRP19 c.42-77T>C - IntronicSNV - 1/4
5-1255520-G-A TERT c.2850C>T p.His950His Synonymous 13/15 -
19-11113997-G-T SMARCA4 c.1944-19G>T - IntronicSNV - 12/34
4-55146406-T-TTGTAAGCACAAAAG PDGFRA c.2157-77_2157-76insTGTAAGCACAAAAG - IntronicInsertion - 15/22
12-46298877-A-C ARID2 c.*16A>C - 3-UTRSNV 21/21 -
9-139396983-A-G NOTCH1 c.5168-43T>C - IntronicSNV - 27/33
2-242690675-G-A D2HGDH c.1012G>A p.Val338Ile Missense 8/10 -
9-98221982-G-A PTCH1 c.2787C>T p.Asn929Asn Synonymous 17/24 -
17-78078775-A-C GAA c.390A>C p.Pro130Pro Synonymous 2/20 -
20-1969934-A-G PDYN c.-20+3296T>C - intron_variant - 1/2
9-87413013-T-G NTRK2 c.1397-12444T>G - IntronicSNV - 14/14
4-55962547-G-GG KDR c.2615-37_2615-37dup - IntronicInsertion - 18/29
12-18499777-C-G PIK3C2G c.1625+7C>G - IntronicSNV - 11/31
8-133885465-A-C TG c.637A>C p.Arg213Arg Synonymous 5/48 -
2-242680430-A-G D2HGDH c.293-18A>G - IntronicSNV - 2/9
13-32915005-G-A BRCA2 c.6513G>A p.Val2171Val Synonymous 11/27 -
13-32915005-G-T BRCA2 c.6513G>T p.Val2171Val Synonymous 11/27 -
X-76937963-G-T ATRX c.2785C>A p.Gln929Lys Missense 9/35 -
19-3114864-C-T GNA11 c.477-78C>T - IntronicSNV - 3/6
19-40741862-C-T AKT2 c.1110G>A p.Pro370Pro Synonymous 11/14 -
19-40741862-C-A AKT2 c.1110G>T p.Pro370Pro Synonymous 11/14 -
9-87395778-T-C NTRK2 c.1396+28778T>C - IntronicSNV - 14/14
19-11105608-T-C SMARCA4 c.1524T>C p.His508His Synonymous 9/35 -
9-87408352-C-T NTRK2 c.1397-17105C>T - IntronicSNV - 14/14
9-87408352-C-G NTRK2 c.1397-17105C>G - IntronicSNV - 14/14
9-87385603-G-T NTRK2 c.1396+18603G>T - IntronicSNV - 14/14
7-138549075-G-A KIAA1549 c.4930-2873C>T - IntronicSNV - 15/19
7-92355033-T-A CDK6 c.444A>T p.Pro148Pro Synonymous 4/8 -
7-148508833-A-G EZH2 c.1852-21T>C - IntronicSNV - 15/19
12-49448463-C-T KMT2D c.248G>A p.Arg83Gln Missense 3/54 -
16-2138269-T-G TSC2 c.5202T>G p.Asp1734Glu Missense 41/42 -
4-72649685-T-C GC c.51A>G p.Leu17Leu Synonymous 1/13 -
7-140493351-T-C BRAF c.1140+757A>G - IntronicSNV - 8/17
2-29444076-G-T ALK c.3516-375C>A - IntronicSNV - 22/28
7-55233089-C-A EGFR c.1839C>A p.Ala613Ala Synonymous 15/28 -
1-27057621-A-T ARID1A c.1351-22A>T - IntronicSNV - 2/19
7-138540716-G-T KIAA1549 c.5248-3701C>A - IntronicSNV - 16/19
16-71609928-CC-AC TAT c.236_237delGGinsAC p.Gly79Asp Missense 3/12 -
12-121434639-TCATTCAT-TCATTCATTCATTCAT HNF1A c.1309+94_1309+101dup - IntronicInsertion - 6/9
1-120611554-T-C NOTCH2 c.73+394A>G - IntronicSNV - 1/33
12-49424203-G-A KMT2D c.13859C>T p.Pro4620Leu Missense 42/54 -
16-2138218-A-C TSC2 c.5161-10A>C - IntronicSNV - 40/41
16-2138218-A-G TSC2 c.5161-10A>G - IntronicSNV - 40/41
16-2138269-T-A TSC2 c.5202T>A p.Asp1734Glu Missense 41/42 -
4-55151711-C-T PDGFRA c.2439+58C>T - IntronicSNV - 17/22
4-55151711-C-A PDGFRA c.2439+58C>A - IntronicSNV - 17/22
7-140489173-A-G BRAF c.1141-1789T>C - IntronicSNV - 8/17
6-157431564-A-G ARID1B c.2282-42A>G - IntronicSNV - 6/19
2-29445458-G-A ALK c.3375C>T p.Gly1125Gly Synonymous 21/29 -
2-47643476-C-T MSH2 c.984C>T p.Ala328Ala Synonymous 6/16 -
17-78078550-T-G GAA c.165T>G p.Ala55Ala Synonymous 2/20 -
17-78078550-T-A GAA c.165T>A p.Ala55Ala Synonymous 2/20 -
16-3819294-C-T CREBBP c.2941G>A p.Ala981Thr Missense 15/31 -
7-138552313-T-A KIAA1549 c.4929+408A>T - IntronicSNV - 15/19
9-139397707-G-A NOTCH1 c.5094C>T p.Asp1698Asp Synonymous 27/34 -
7-138547919-C-T KIAA1549 c.4930-1717G>A - IntronicSNV - 15/19
7-138531628-G-C KIAA1549 c.5295-2409C>G - IntronicSNV - 17/19
19-40742320-T-C AKT2 c.832-28A>G - IntronicSNV - 9/13
1-45293318-G-A PTCH2 c.2127C>T p.Asp709Asp Synonymous 15/22 -
9-87428808-A-G NTRK2 c.*3314A>G - 3-UTRSNV 15/15 -
11-108151686-T-C ATM c.3403-36T>C - IntronicSNV - 23/62
7-55229255-G-C EGFR c.1562G>C p.Arg521Thr Missense 13/28 -
7-55229255-G-T EGFR c.1562G>T p.Arg521Met Missense 13/28 -
12-49444545-G-A KMT2D c.2826C>T p.Ile942Ile Synonymous 11/54 -
8-133899391-G-A TG c.1774G>A p.Ala592Thr Missense 9/48 -
9-135782221-T-C TSC1 c.1335A>G p.Glu445Glu Synonymous 14/23 -
2-29444095-C-T ALK c.3516-394G>A - IntronicSNV - 22/28
9-139405093-G-T NOTCH1 c.2740+12C>A - IntronicSNV - 17/33
12-49434746-G-A KMT2D c.6807C>T p.Ser2269Ser Synonymous 31/54 -
9-135776925-T-C TSC1 c.2502+51A>G - IntronicSNV - 19/22
10-123277531-T-A FGFR2 c.940-554A>T - IntronicSNV - 7/17
10-123277531-T-C FGFR2 c.940-554A>G - IntronicSNV - 7/17
9-139405093-G-C NOTCH1 c.2740+12C>G - IntronicSNV - 17/33
2-47739533-G-A KCNK12 c.*8513C>T - IntergenicSNV 2/2 -
3-178917488-C-T PIK3CA c.363C>T p.Ile121Ile Synonymous 3/21 -
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
9-87404086-G-A NTRK2 c.1397-21371G>A - IntronicSNV - 14/14
X-39932907-T-C BCOR c.1692A>G p.Ala564Ala Synonymous 4/15 -
9-87360153-G-A NTRK2 c.1296+165G>A - IntronicSNV - 13/14
9-87409025-G-A NTRK2 c.1397-16432G>A - IntronicSNV - 14/14
20-57484311-C-T GNAS c.585+40C>T - IntronicSNV - 7/12
17-41223119-T-C BRCA1 c.4812A>G p.Gln1604Gln Synonymous 15/23 -
8-39872866-A-C IDO2 c.1008A>C p.Ser336Ser Synonymous 11/11 -
8-39872866-A-G IDO2 c.1008A>G p.Ser336Ser Synonymous 11/11 -
9-87394720-G-C NTRK2 c.1396+27720G>C - IntronicSNV - 14/14
2-242688203-C-T D2HGDH c.854-1363C>T - IntronicSNV - 6/9
22-29108079-C-G CHEK2 c.813-74G>C - IntronicSNV - 6/15
8-133880390-C-G TG c.98C>G p.Pro33Arg Missense 2/48 -
7-55266417-T-A EGFR c.2709T>A p.Thr903Thr Synonymous 23/28 -
3-142281612-A-G ATR c.632T>C p.Met211Thr Missense 4/47 -
17-29508699-T-C NF1 c.655-29T>C - IntronicSNV - 6/56
12-18473928-T-C PIK3C2G c.1170T>C p.Asn390Asn Synonymous 7/32 -
9-139405584-C-T NOTCH1 c.2587+20G>A - IntronicSNV - 16/33
8-38272814-T-C FGFR1 c.1849-395A>G - IntronicSNV - 13/17
8-133941406-T-C TG c.4785T>C p.Asp1595Asp Synonymous 23/48 -
4-72622593-G-C GC c.870C>G p.Ser290Ser Synonymous 8/13 -
10-43572832-G-A RET c.73+53G>A - IntronicSNV - 1/19
8-133898880-T-C TG c.1263T>C p.Leu421Leu Synonymous 9/48 -
19-17940816-G-C JAK3 c.3207+101C>G - IntronicSNV - 23/23
12-49434074-C-A KMT2D c.7479G>T p.Gly2493Gly Synonymous 31/54 -
12-49434074-C-T KMT2D c.7479G>A p.Gly2493Gly Synonymous 31/54 -
22-21337325-G-A LZTR1 c.210G>A p.Lys70Lys Synonymous 2/21 -
7-140493460-C-G BRAF c.1140+648G>C - IntronicSNV - 8/17
9-87362039-A-C NTRK2 c.1296+2051A>C - IntronicSNV - 13/14
13-48919358-T-G RB1 c.500+23T>G - IntronicSNV - 4/26
9-87420686-C-A NTRK2 c.1397-4771C>A - IntronicSNV - 14/14
7-138529980-T-TT KIAA1549 c.5295-760_5295-760dup - IntronicInsertion - 17/19
2-47693959-G-A MSH2 c.1661+12G>A - IntronicSNV - 10/15
9-135786904-A-G TSC1 c.965T>C p.Met322Thr Missense 10/23 -
17-78078818-G-C GAA c.433G>C p.Glu145Gln Missense 2/20 -
9-87400217-A-G NTRK2 c.1397-25240A>G - IntronicSNV - 14/14
1-204506107-C-T MDM4 c.344-451C>T - IntronicSNV - 5/10
14-95569761-C-T DICER1 c.3972G>A p.Lys1324Lys Synonymous 23/29 -
4-55139978-T-C PDGFRA c.1558+81T>C - IntronicSNV - 10/22
9-87428619-G-T NTRK2 c.*3125G>T - 3-UTRSNV 15/15 -
17-29541437-T-G NF1 c.1393-32T>G - IntronicSNV - 12/56
17-29541437-T-C NF1 c.1393-32T>C - IntronicSNV - 12/56
17-29541437-T-A NF1 c.1393-32T>A - IntronicSNV - 12/56
9-87415695-C-A NTRK2 c.1397-9762C>A - IntronicSNV - 14/14
9-87415695-C-T NTRK2 c.1397-9762C>T - IntronicSNV - 14/14
19-51323733-C-T KLK1 c.207-34G>A - IntronicSNV - 2/4
9-133761001-A-C ABL1 c.3381A>C p.Pro1127Pro Synonymous 11/11 -
4-55140016-T-A PDGFRA c.1558+119T>A - IntronicSNV - 10/22
13-49047451-A-G RB1 c.2490-45A>G - IntronicSNV - 23/26
6-114281236-C-T HDAC2 c.53-54G>A - IntronicSNV - 1/13
2-48025764-C-T MSH6 c.642C>T p.Tyr214Tyr Synonymous 4/10 -
9-87413266-A-G NTRK2 c.1397-12191A>G - IntronicSNV - 14/14
2-29416481-T-C ALK c.4472A>G p.Lys1491Arg Missense 29/29 -
12-57487777-G-C NAB2 c.1468+396G>C - IntronicSNV - 6/6
7-140500135-C-T BRAF c.980+27G>A - IntronicSNV - 7/17
9-2097311-G-A SMARCA2 c.2992-74G>A - IntronicSNV - 20/33
7-140493460-C-A BRAF c.1140+648G>T - IntronicSNV - 8/17
16-85706047-A-G GSE1 c.3556A>G p.Arg1186Gly Missense 16/16 -
16-85706047-A-C GSE1 c.3556A>C p.Arg1186Arg Synonymous 16/16 -
16-85706047-A-T GSE1 c.3556A>T p.Arg1186Trp Missense 16/16 -
6-135523774-A-G MYB c.1690-581A>G - IntronicSNV - 13/14
5-112164561-G-A APC c.1635G>A p.Ala545Ala Synonymous 14/16 -
17-78087148-C-G GAA c.2172C>G p.Ala724Ala Synonymous 15/20 -
19-17945471-G-C JAK3 c.2259C>G p.Ala753Ala Synonymous 17/24 -
19-17945471-G-A JAK3 c.2259C>T p.Ala753Ala Synonymous 17/24 -
9-87428619-G-A NTRK2 c.*3125G>A - 3-UTRSNV 15/15 -
19-51323733-C-A KLK1 c.207-34G>T - IntronicSNV - 2/4
4-55141055-A-G PDGFRA c.1701A>G p.Pro567Pro Synonymous 12/23 -
6-157507698-G-C ARID1B c.3550+2129G>C - IntronicSNV - 13/19
10-43613843-G-A RET c.2307G>A p.Leu769Leu Synonymous 13/20 -
9-87380551-C-G NTRK2 c.1396+13551C>G - IntronicSNV - 14/14
2-48025764-C-G MSH6 c.642C>G p.Tyr214* Nonsense 4/10 -
2-48025764-C-A MSH6 c.642C>A p.Tyr214* Nonsense 4/10 -
2-242688292-C-T D2HGDH c.854-1274C>T - IntronicSNV - 6/9
1-45293518-A-G PTCH2 c.2055T>C p.Ala685Ala Synonymous 14/22 -
9-87379735-G-A NTRK2 c.1396+12735G>A - IntronicSNV - 14/14
8-38272542-C-A FGFR1 c.1849-123G>T - IntronicSNV - 13/17
7-140488156-T-G BRAF c.1141-772A>C - IntronicSNV - 8/17
3-142277575-A-T ATR c.1776T>A p.Gly592Gly Synonymous 8/47 -
8-133898880-T-A TG c.1263T>A p.Leu421Leu Synonymous 9/48 -
8-133898880-T-G TG c.1263T>G p.Leu421Leu Synonymous 9/48 -
17-7578210-T-C TP53 c.639A>G p.Arg213Arg Synonymous 6/11 -
17-7578210-T-A TP53 c.639A>T p.Arg213Arg Synonymous 6/11 -
1-120611758-G-A NOTCH2 c.73+190C>T - IntronicSNV - 1/33
9-87376089-G-C NTRK2 c.1396+9089G>C - IntronicSNV - 14/14
2-242707101-A-G D2HGDH c.1307-24A>G - IntronicSNV - 9/9
3-12626516-G-A RAF1 c.1669-36C>T - IntronicSNV - 15/16
16-2138584-G-C TSC2 c.5397G>C p.Ser1799Ser Synonymous 42/42 -
16-2138584-G-T TSC2 c.5397G>T p.Ser1799Ser Synonymous 42/42 -
2-209113192-G-A IDH1 c.315C>T p.Gly105Gly Synonymous 4/10 -
17-78091545-G-A GAA c.2478G>A p.Leu826Leu Synonymous 17/20 -
17-78091545-G-T GAA c.2478G>T p.Leu826Leu Synonymous 17/20 -
22-21349579-C-T LZTR1 c.1942+264C>T - IntronicSNV - 16/20
13-32911888-A-C BRCA2 c.3396A>C p.Lys1132Asn Missense 11/27 -
13-32911888-A-G BRCA2 c.3396A>G p.Lys1132Lys Synonymous 11/27 -
17-41245237-A-G BRCA1 c.2311T>C p.Leu771Leu Synonymous 10/23 -
19-11170786-G-A SMARCA4 c.4834G>A p.Gly1612Ser Missense 34/35 -
16-2222286-C-T TRAF7 c.570C>T p.His190His Synonymous 8/21 -
12-49434365-A-G KMT2D c.7188T>C p.Cys2396Cys Synonymous 31/54 -
1-120465262-C-A NOTCH2 c.4999G>T p.Val1667Phe Missense 27/34 -
19-11145691-C-T SMARCA4 c.4053C>T p.Asp1351Asp Synonymous 29/35 -
2-209108317-C-T IDH1 c.532G>A p.Val178Ile Missense 6/10 -
9-133761001-A-G ABL1 c.3381A>G p.Pro1127Pro Synonymous 11/11 -
6-135515448-T-C MYB c.844-46T>C - IntronicSNV - 7/14
4-55146406-T-G PDGFRA c.2157-77T>G - IntronicSNV - 15/22
12-57487729-T-A NAB2 c.1468+348T>A - IntronicSNV - 6/6
18-52901846-C-G TCF4 c.1419G>C p.Pro473Pro Synonymous 16/20 -
12-58144942-A-G CDK4 c.354+48T>C - IntronicSNV - 3/7
3-37083740-A-G MLH1 c.1668-19A>G - IntronicSNV - 14/18
7-138538228-A-G KIAA1549 c.5248-1213T>C - IntronicSNV - 16/19
7-55219159-C-T EGFR c.628+104C>T - IntronicSNV - 5/27
7-55219159-C-G EGFR c.628+104C>G - IntronicSNV - 5/27
5-1279612-C-T TERT c.1951-27G>A - IntronicSNV - 4/14
X-39911657-C-A BCOR c.4875-4G>T - IntronicSNV - 14/14
4-72629590-G-A GC c.537C>T p.Thr179Thr Synonymous 5/13 -
9-133761001-A-T ABL1 c.3381A>T p.Pro1127Pro Synonymous 11/11 -
12-57492996-G-A STAT6 c.1891+81C>T - IntronicSNV - 16/21
9-87414794-A-G NTRK2 c.1397-10663A>G - IntronicSNV - 14/14
1-120512104-T-C NOTCH2 c.1108+30A>G - IntronicSNV - 6/33
1-120512104-T-A NOTCH2 c.1108+30A>T - IntronicSNV - 6/33
1-120457850-C-T NOTCH2 c.*79G>A - 3-UTRSNV 34/34 -
12-18473881-T-G PIK3C2G c.1138-15T>G - IntronicSNV - 6/31
17-78087148-C-A GAA c.2172C>A p.Ala724Ala Synonymous 15/20 -
16-3900713-G-C CREBBP c.383C>G p.Ser128Cys Missense 2/31 -
9-87369613-A-G NTRK2 c.1396+2613A>G - IntronicSNV - 14/14
9-87369613-A-T NTRK2 c.1396+2613A>T - IntronicSNV - 14/14
12-18446881-C-T PIK3C2G c.966C>T p.Cys322Cys Synonymous 5/32 -
4-55140016-T-C PDGFRA c.1558+119T>C - IntronicSNV - 10/22
9-87428866-C-T NTRK2 c.*3372C>T - 3-UTRSNV 15/15 -
11-94197260-A-G MRE11 c.1225+19T>C - IntronicSNV - 11/19
5-146648359-G-A STK32A c.53-9328G>A - IntronicSNV - 2/6
7-138541488-A-C KIAA1549 c.5247+4397T>G - IntronicSNV - 16/19
13-32903685-C-T BRCA2 c.681+56C>T - IntronicSNV - 8/26
13-32903685-C-G BRCA2 c.681+56C>G - IntronicSNV - 8/26
2-47637325-C-T MSH2 c.459C>T p.Ser153Ser Synonymous 3/16 -
8-133894108-G-A TG c.639G>A p.Arg213Arg Synonymous 6/48 -
22-21349677-C-T LZTR1 c.1943-358C>T - IntronicSNV - 16/20
2-48010488-G-T MSH6 c.116G>T p.Gly39Val Missense 1/10 -
2-48010488-G-A MSH6 c.116G>A p.Gly39Glu Missense 1/10 -
4-1805593-G-T FGFR3 c.1075+30G>T - IntronicSNV - 8/17
4-1805593-G-C FGFR3 c.1075+30G>C - IntronicSNV - 8/17
4-1805593-G-A FGFR3 c.1075+30G>A - IntronicSNV - 8/17
1-246089811-G-C SMYD3 c.525+1422C>G - IntronicSNV - 7/11
1-246089811-G-A SMYD3 c.525+1422C>T - IntronicSNV - 7/11
1-45291908-G-A PTCH2 c.3114+14C>T - IntronicSNV - 19/21
8-121782402-C-T SNTB1 c.571+41111G>A - IntronicSNV - 1/6
9-98229389-C-G PTCH1 c.2560+9G>C - IntronicSNV - 15/23
3-178927410-A-G PIK3CA c.1173A>G p.Ile391Met Missense 7/21 -
17-78091428-A-C GAA c.2361A>C p.Pro787Pro Synonymous 17/20 -
17-78091428-A-G GAA c.2361A>G p.Pro787Pro Synonymous 17/20 -
17-78078622-CC-C GAA c.237delC p.Thr80Hisfs*62 Frameshift 2/20 -
12-49437181-T-C KMT2D c.5498A>G p.Glu1833Gly Missense 24/54 -
2-29446202-G-A ALK c.3359+6C>T - IntronicSNV - 20/28
X-69066821-A-G EDA c.397-110056A>G - IntronicSNV - 1/7
5-131977963-T-C RAD50 c.3846T>C p.Tyr1282Tyr Synonymous 25/25 -
10-123325158-G-A FGFR2 c.170C>T p.Ser57Leu Missense 3/18 -
19-11137135-T-C SMARCA4 c.3215+113T>C - IntronicSNV - 23/34
16-68855966-G-T CDH1 c.1774G>T p.Ala592Ser Missense 12/16 -
16-68855966-G-A CDH1 c.1774G>A p.Ala592Thr Missense 12/16 -
9-98238403-G-A PTCH1 c.1641C>T p.Ser547Ser Synonymous 12/24 -
14-105258892-C-T AKT1 c.46+43G>A - IntronicSNV - 2/13
9-98215968-C-G PTCH1 c.3307-66G>C - IntronicSNV - 19/23
8-133885332-T-C TG c.504T>C p.Asn168Asn Synonymous 5/48 -
9-87390378-T-G NTRK2 c.1396+23378T>G - IntronicSNV - 14/14
12-121437474-C-T HNF1A c.1768+44C>T - IntronicSNV - 9/9
4-72634027-A-G GC c.252T>C p.Tyr84Tyr Synonymous 3/13 -
7-148543525-A-G EZH2 c.246+37T>C - IntronicSNV - 3/19
10-131334511-G-T MGMT c.88G>T p.Gly30* Nonsense 2/5 -
7-128843277-C-T SMO c.384C>T p.Ala128Ala Synonymous 2/12 -
1-78432503-G-A FUBP1 c.415+65C>T - IntronicSNV - 6/19
1-78432503-G-C FUBP1 c.415+65C>G - IntronicSNV - 6/19
2-242684115-T-C D2HGDH c.685-9T>C - IntronicSNV - 5/9
4-72618337-A-G GC c.1293T>C p.Pro431Pro Synonymous 11/13 -
4-72618337-A-C GC c.1293T>G p.Pro431Pro Synonymous 11/13 -
7-138530264-T-G KIAA1549 c.5295-1045A>C - IntronicSNV - 17/19
9-2056563-G-A SMARCA2 c.1174-109G>A - IntronicSNV - 6/33
17-29508775-G-A NF1 c.702G>A p.Leu234Leu Synonymous 7/57 -
2-29416794-G-A ALK c.4165-6C>T - IntronicSNV - 28/28
6-36198421-T-C BRPF3 c.*35T>C - 3-UTRSNV 13/13 -
9-87412892-C-T NTRK2 c.1397-12565C>T - IntronicSNV - 14/14
5-149439458-T-A CSF1R c.1970-33A>T - IntronicSNV - 14/21
9-98238358-G-A PTCH1 c.1686C>T p.Ala562Ala Synonymous 12/24 -
1-120611964-G-C NOTCH2 c.57C>G p.Cys19Trp Missense 1/34 -
1-120611964-G-A NOTCH2 c.57C>T p.Cys19Cys Synonymous 1/34 -
17-78078600-C-G GAA c.215C>G p.Pro72Arg Missense 2/20 -
1-120611876-C-T NOTCH2 c.73+72G>A - IntronicSNV - 1/33
4-1808523-G-T FGFR3 c.2169-33G>T - IntronicSNV - 16/17
9-87404873-T-A NTRK2 c.1397-20584T>A - IntronicSNV - 14/14
7-55266417-T-C EGFR c.2709T>C p.Thr903Thr Synonymous 23/28 -
11-63533965-G-A C11orf95 c.140-189C>T - IntronicSNV - 1/4
22-21349037-A-G LZTR1 c.1785+21A>G - IntronicSNV - 15/20
22-21349037-A-T LZTR1 c.1785+21A>T - IntronicSNV - 15/20
9-98244242-T-C PTCH1 c.735A>G p.Thr245Thr Synonymous 5/24 -
X-44913052-T-A KDM6A c.749-22T>A - IntronicSNV - 9/28
4-55143577-G-C PDGFRA c.1809G>C p.Ala603Ala Synonymous 13/23 -
1-78430690-G-GG FUBP1 c.637-37_637-37dup - IntronicInsertion - 8/19
10-123243197-G-A FGFR2 c.2301+15C>T - IntronicSNV - 17/17
2-47643476-C-G MSH2 c.984C>G p.Ala328Ala Synonymous 6/16 -
6-26045905-G-A HIST1H3C c.267G>A p.Ala89Ala Synonymous 1/1 -
9-87373375-C-T NTRK2 c.1396+6375C>T - IntronicSNV - 14/14
6-26045905-G-C HIST1H3C c.267G>C p.Ala89Ala Synonymous 1/1 -
9-87419117-A-G NTRK2 c.1397-6340A>G - IntronicSNV - 14/14
17-29546175-T-C NF1 c.1641+39T>C - IntronicSNV - 14/56
9-98209594-G-T PTCH1 c.3944C>A p.Pro1315His Missense 23/24 -
9-98209594-G-A PTCH1 c.3944C>T p.Pro1315Leu Missense 23/24 -
12-49426878-C-T KMT2D c.11610G>A p.Met3870Ile Missense 39/54 -
12-18762450-A-C PIK3C2G c.3965-19A>C - IntronicSNV - 29/31
12-18762450-A-T PIK3C2G c.3965-19A>T - IntronicSNV - 29/31
8-133905999-T-A TG c.2826T>A p.Ile942Ile Synonymous 11/48 -
4-1806743-G-A FGFR3 c.1412+47G>A - IntronicSNV - 10/17
9-87363774-T-C NTRK2 c.1297-3127T>C - IntronicSNV - 13/14
19-11170677-A-C SMARCA4 c.4769-44A>C - IntronicSNV - 33/34
19-11170677-A-G SMARCA4 c.4769-44A>G - IntronicSNV - 33/34
13-53422553-A-T PCDH8 c.19T>A p.Trp7Arg Missense 1/3 -
19-17955003-C-T JAK3 c.184+40G>A - IntronicSNV - 2/23
X-44833841-C-A KDM6A c.335-70C>A - IntronicSNV - 3/28
X-44833841-C-G KDM6A c.335-70C>G - IntronicSNV - 3/28
12-57487814-A-C NAB2 c.1468+433A>C - IntronicSNV - 6/6
12-57487814-A-T NAB2 c.1468+433A>T - IntronicSNV - 6/6
2-29443749-G-T ALK c.3516-48C>A - IntronicSNV - 22/28
7-140492039-T-C BRAF c.1140+2069A>G - IntronicSNV - 8/17
9-2029199-G-C SMARCA2 c.177G>C p.Thr59Thr Synonymous 2/34 -
7-116436022-G-A MET c.4017G>A p.Ala1339Ala Synonymous 21/21 -
17-78081445-CC-AG GAA c.782_783delCCinsAG p.Ala261Glu Missense 4/20 -
5-112176756-T-A APC c.5465T>A p.Val1822Asp Missense 16/16 -
5-112176756-T-G APC c.5465T>G p.Val1822Gly Missense 16/16 -
7-116436022-G-C MET c.4017G>C p.Ala1339Ala Synonymous 21/21 -
13-53422553-A-G PCDH8 c.19T>C p.Trp7Arg Missense 1/3 -
2-29755003-C-T ALK c.953-21G>A - IntronicSNV - 3/28
17-78091461-C-T GAA c.2394C>T p.Ile798Ile Synonymous 17/20 -
9-87384534-G-A NTRK2 c.1396+17534G>A - IntronicSNV - 14/14
8-133900638-C-A TG c.2586C>A p.Leu862Leu Synonymous 10/48 -
17-78092496-T-A GAA c.2691T>A p.Ala897Ala Synonymous 19/20 -
4-72631206-G-A GC c.416C>T p.Pro139Leu Missense 4/13 -
5-149447771-G-A CSF1R c.1626+7C>T - IntronicSNV - 11/21
9-87410901-A-T NTRK2 c.1397-14556A>T - IntronicSNV - 14/14
2-29455267-A-G ALK c.2535T>C p.Gly845Gly Synonymous 15/29 -
13-28624294-G-A FLT3 c.680C>T p.Thr227Met Missense 6/24 -
1-45288989-G-A PTCH2 c.3183C>T p.Pro1061Pro Synonymous 20/22 -
1-45288989-G-C PTCH2 c.3183C>G p.Pro1061Pro Synonymous 20/22 -
9-87360102-G-A NTRK2 c.1296+114G>A - IntronicSNV - 13/14
19-51323501-A-T KLK1 c.405T>A p.Asp135Glu Missense 3/5 -
16-85690879-A-AA GSE1 c.1313-4_1313-4dup - IntronicInsertion - 7/15
5-112176559-T-G APC c.5268T>G p.Ser1756Ser Synonymous 16/16 -
9-87430521-T-A NTRK2 c.*5027T>A - 3-UTRSNV 15/15 -
4-55151958-T-TC PDGFRA c.2440-50_2440-49insC - IntronicInsertion - 17/22
12-57488293-A-T NAB2 c.1469-102A>T - IntronicSNV - 6/6
2-47693788-A-T MSH2 c.1511-9A>T - IntronicSNV - 9/15
17-78092496-T-C GAA c.2691T>C p.Ala897Ala Synonymous 19/20 -
2-158626980-C-T ACVR1 c.690G>A p.Glu230Glu Synonymous 7/11 -
9-87419506-T-C NTRK2 c.1397-5951T>C - IntronicSNV - 14/14
5-149457678-G-A CSF1R c.726C>T p.Thr242Thr Synonymous 5/22 -
1-120612043-G-A NOTCH2 c.1-23C>T - 5-UTRSNV 1/34 -
1-120612043-G-T NOTCH2 c.1-23C>A - 5-UTRSNV 1/34 -
4-55602765-G-C KIT c.2586G>C p.Leu862Leu Synonymous 18/21 -
5-1294166-C-T TERT c.835G>A p.Ala279Thr Missense 2/15 -
9-87419506-T-A NTRK2 c.1397-5951T>A - IntronicSNV - 14/14
19-40761212-G-A AKT2 c.176-36C>T - IntronicSNV - 3/13
7-140490928-C-A BRAF c.1140+3180G>T - IntronicSNV - 8/17
12-57486647-A-C NAB2 c.1092-53A>C - IntronicSNV - 3/6
12-57486647-A-G NAB2 c.1092-53A>G - IntronicSNV - 3/6
17-41226601-G-C BRCA1 c.4485-63C>G - IntronicSNV - 13/22
7-148506363-T-A EZH2 c.2110+39A>T - IntronicSNV - 18/19
9-87418949-C-A NTRK2 c.1397-6508C>A - IntronicSNV - 14/14
7-140493029-A-G BRAF c.1140+1079T>C - IntronicSNV - 8/17
14-95574031-G-A DICER1 c.2718C>T p.Arg906Arg Synonymous 19/29 -
3-142277536-A-G ATR c.1815T>C p.Asp605Asp Synonymous 8/47 -
8-133894766-C-T TG c.798C>T p.Asp266Asp Synonymous 7/48 -
12-121416988-A-G HNF1A c.326+91A>G - IntronicSNV - 1/9
19-40739770-G-A AKT2 c.*9C>T - 3-UTRSNV 14/14 -
19-40739770-G-C AKT2 c.*9C>G - 3-UTRSNV 14/14 -
7-55268916-C-T EGFR c.2982C>T p.Asp994Asp Synonymous 25/28 -
10-43610119-G-C RET c.2071G>C p.Gly691Arg Missense 11/20 -
10-43610119-G-T RET c.2071G>T p.Gly691Cys Missense 11/20 -
7-138535479-G-A KIAA1549 c.5294+1490C>T - IntronicSNV - 17/19
17-29486152-G-A NF1 c.288+41G>A - IntronicSNV - 3/56
7-138534835-T-C KIAA1549 c.5294+2134A>G - IntronicSNV - 17/19
9-87415368-G-A NTRK2 c.1397-10089G>A - IntronicSNV - 14/14
7-138531050-C-T KIAA1549 c.5295-1831G>A - IntronicSNV - 17/19
7-138531050-C-A KIAA1549 c.5295-1831G>T - IntronicSNV - 17/19
1-45294156-T-C PTCH2 c.1590+22A>G - IntronicSNV - 12/21
17-78081604-T-G GAA c.864T>G p.Gly288Gly Synonymous 5/20 -
17-78081604-T-C GAA c.864T>C p.Gly288Gly Synonymous 5/20 -
17-78081604-T-A GAA c.864T>A p.Gly288Gly Synonymous 5/20 -
6-114265587-T-C HDAC2 c.1092-13A>G - IntronicSNV - 10/13
12-49427919-T-C KMT2D c.10671A>G p.Pro3557Pro Synonymous 38/54 -
6-114265587-T-A HDAC2 c.1092-13A>T - IntronicSNV - 10/13
6-26031868-G-A HIST1H3B c.*10C>T - 3-UTRSNV 1/1 -
2-29445157-G-T ALK c.3515+53C>A - IntronicSNV - 22/28
2-29445157-G-C ALK c.3515+53C>G - IntronicSNV - 22/28
10-123256248-G-A FGFR2 c.1673-12C>T - IntronicSNV - 12/17
7-148507538-T-TT EZH2 c.1948-29_1948-29dup - IntronicInsertion - 16/19
2-242690745-C-T D2HGDH c.1082C>T p.Ala361Val Missense 8/10 -
17-41244429-C-G BRCA1 c.3119G>C p.Ser1040Thr Missense 10/23 -
17-41244429-C-T BRCA1 c.3119G>A p.Ser1040Asn Missense 10/23 -
9-2096774-G-T SMARCA2 c.2991+10G>T - IntronicSNV - 20/33
9-2096774-G-C SMARCA2 c.2991+10G>C - IntronicSNV - 20/33
9-2096774-G-A SMARCA2 c.2991+10G>A - IntronicSNV - 20/33
2-29541299-C-A ALK c.1547-29G>T - IntronicSNV - 7/28
19-11097709-C-A SMARCA4 c.859+30C>A - IntronicSNV - 5/34
1-78430690-G-GGG FUBP1 c.637-37_637-36insCC - IntronicInsertion - 8/19
10-104268877-G-A SUFU c.183-49G>A - IntronicSNV - 1/11
10-104268877-G-C SUFU c.183-49G>C - IntronicSNV - 1/11
10-104268877-G-T SUFU c.183-49G>T - IntronicSNV - 1/11
10-123298158-T-C FGFR2 c.696A>G p.Val232Val Synonymous 6/18 -
9-87409367-G-A NTRK2 c.1397-16090G>A - IntronicSNV - 14/14
9-87408053-T-C NTRK2 c.1397-17404T>C - IntronicSNV - 14/14
7-138533930-T-A KIAA1549 c.5294+3039A>T - IntronicSNV - 17/19
22-26144760-C-T MYO18B c.-110+6500C>T - intron_variant - 1/43
8-39871135-C-T IDO2 c.810C>T p.Ser270Ser Synonymous 10/11 -
8-133898697-A-G TG c.1080A>G p.Glu360Glu Synonymous 9/48 -
19-11106600-C-T SMARCA4 c.1594-289C>T - IntronicSNV - 9/34
9-87397130-A-G NTRK2 c.1397-28327A>G - IntronicSNV - 14/14
7-138539862-G-A KIAA1549 c.5248-2847C>T - IntronicSNV - 16/19
2-48010558-C-T MSH6 c.186C>T p.Arg62Arg Synonymous 1/10 -
2-48010558-C-G MSH6 c.186C>G p.Arg62Arg Synonymous 1/10 -
7-55218903-T-C EGFR c.560-84T>C - IntronicSNV - 4/27
17-78090900-C-T GAA c.2323C>T p.Leu775Leu Synonymous 16/20 -
2-242695399-G-A D2HGDH c.1276G>A p.Ala426Thr Missense 9/10 -
4-55144447-T-A PDGFRA c.2003-82T>A - IntronicSNV - 14/22
4-55144447-T-C PDGFRA c.2003-82T>C - IntronicSNV - 14/22
10-123239112-G-A FGFR2 c.*259C>T - 3-UTRSNV 18/18 -
9-87363424-C-G NTRK2 c.1296+3436C>G - IntronicSNV - 13/14
6-135539162-T-G MYB c.*44T>G - 3-UTRSNV 15/15 -
X-76937963-G-C ATRX c.2785C>G p.Gln929Glu Missense 9/35 -
5-67589188-C-T PIK3R1 c.366C>T p.Phe122Phe Synonymous 4/10 -
2-48018081-A-G MSH6 c.276A>G p.Pro92Pro Synonymous 2/10 -
9-87417794-G-A NTRK2 c.1397-7663G>A - IntronicSNV - 14/14
9-87417794-G-C NTRK2 c.1397-7663G>C - IntronicSNV - 14/14
8-133935617-G-T TG c.4563G>T p.Leu1521Leu Synonymous 22/48 -
1-110300441-G-A EPS8L3 c.877C>T p.His293Tyr Missense 10/19 -
8-133935617-G-A TG c.4563G>A p.Leu1521Leu Synonymous 22/48 -
8-133935617-G-C TG c.4563G>C p.Leu1521Leu Synonymous 22/48 -
16-68857441-T-C CDH1 c.2076T>C p.Ala692Ala Synonymous 13/16 -
18-52896253-C-T TCF4 c.1692G>A p.Glu564Glu Synonymous 18/20 -
4-1801487-G-A FGFR3 c.393G>A p.Ser131Ser Synonymous 4/18 -
9-2191246-T-C SMARCA2 c.4595-20T>C - IntronicSNV - 32/33
9-2039411-T-C SMARCA2 c.356-55T>C - IntronicSNV - 3/33
13-48916860-C-G RB1 c.380+10C>G - IntronicSNV - 3/26
17-78078746-CC-C GAA c.361delC p.Gln121Argfs*21 Frameshift 2/20 -
9-133710804-T-A ABL1 c.137-18647T>A - IntronicSNV - 1/10
19-11170786-G-T SMARCA4 c.4834G>T p.Gly1612Cys Missense 34/35 -
9-133710246-A-T ABL1 c.137-19205A>T - IntronicSNV - 1/10
16-2138584-G-A TSC2 c.5397G>A p.Ser1799Ser Synonymous 42/42 -
17-78087148-C-T GAA c.2172C>T p.Ala724Ala Synonymous 15/20 -
12-57493727-T-G STAT6 c.1608-41A>C - IntronicSNV - 14/21
8-38285636-C-G FGFR1 c.449-25G>C - IntronicSNV - 4/17
8-38285636-C-T FGFR1 c.449-25G>A - IntronicSNV - 4/17
2-242690770-T-C D2HGDH c.1107T>C p.Asp369Asp Synonymous 8/10 -
9-87392582-C-T NTRK2 c.1396+25582C>T - IntronicSNV - 14/14
7-128850875-T-C SMO c.1722T>C p.Ser574Ser Synonymous 10/12 -
16-2114407-C-T TSC2 c.1578C>T p.Ser526Ser Synonymous 15/42 -
11-63531175-C-G C11orf95 c.1752G>C p.Arg584Arg Synonymous 5/5 -
1-43812075-G-A MPL c.981-41G>A - IntronicSNV - 6/11
4-72618354-G-A GC c.1276C>T p.Leu426Leu Synonymous 11/13 -
12-57487729-T-G NAB2 c.1468+348T>G - IntronicSNV - 6/6
4-72634043-G-A GC c.236C>T p.Ala79Val Missense 3/13 -
1-45297753-A-G PTCH2 c.456-37T>C - IntronicSNV - 3/21
1-45297753-A-C PTCH2 c.456-37T>G - IntronicSNV - 3/21
4-55593481-A-G KIT c.1638A>G p.Lys546Lys Synonymous 10/21 -
9-87395919-A-G NTRK2 c.1396+28919A>G - IntronicSNV - 14/14
8-133898862-C-A TG c.1245C>A p.Leu415Leu Synonymous 9/48 -
8-133898862-C-G TG c.1245C>G p.Leu415Leu Synonymous 9/48 -
8-133898862-C-T TG c.1245C>T p.Leu415Leu Synonymous 9/48 -
17-78091545-G-C GAA c.2478G>C p.Leu826Leu Synonymous 17/20 -
10-43622217-T-C RET c.3187+47T>C - IntronicSNV - 19/19
19-11113902-G-A SMARCA4 c.1943+67G>A - IntronicSNV - 12/34
8-38272952-T-C FGFR1 c.1848+436A>G - IntronicSNV - 13/17
6-36189887-C-G BRPF3 c.3084-58C>G - IntronicSNV - 9/12
5-149439458-T-G CSF1R c.1970-33A>C - IntronicSNV - 14/21
7-55237977-T-C EGFR c.1881-891T>C - IntronicSNV - 15/27
7-138546543-G-A KIAA1549 c.4930-341C>T - IntronicSNV - 15/19
5-149456772-T-A CSF1R c.889+67A>T - IntronicSNV - 6/21
2-29416615-G-A ALK c.4338C>T p.Thr1446Thr Synonymous 29/29 -
9-135772717-G-A TSC1 c.2829C>T p.Ala943Ala Synonymous 22/23 -
9-87410214-G-A NTRK2 c.1397-15243G>A - IntronicSNV - 14/14
17-66547249-G-A FAM20A c.719+765C>T - IntronicSNV - 4/10
7-140490382-C-T BRAF c.1141-2998G>A - IntronicSNV - 8/17
17-78078571-A-G GAA c.186A>G p.Arg62Arg Synonymous 2/20 -
13-32912560-G-A BRCA2 c.4068G>A p.Leu1356Leu Synonymous 11/27 -
17-7576841-A-G TP53 c.993+12T>C - IntronicSNV - 9/10
9-87396327-CATAA-CATAACATAA NTRK2 c.1397-29130_1397-29126dup - IntronicInsertion - 14/14
7-148504859-T-TGACTG EZH2 c.2196-62_2196-61insCAGTC - IntronicInsertion - 19/19
17-29653293-T-C NF1 c.5205+23T>C - IntronicSNV - 36/56
2-47643476-C-A MSH2 c.984C>A p.Ala328Ala Synonymous 6/16 -
8-133885345-CCAC-C TG c.517_519delCAC p.His173delHis InFrameDeletion 5/48 -
7-116339672-C-T MET c.534C>T p.Ser178Ser Synonymous 2/21 -
16-2138422-C-T TSC2 c.5260-25C>T - IntronicSNV - 41/41
16-2138422-C-A TSC2 c.5260-25C>A - IntronicSNV - 41/41
16-2138422-C-G TSC2 c.5260-25C>G - IntronicSNV - 41/41
7-148506363-T-G EZH2 c.2110+39A>C - IntronicSNV - 18/19
13-32912560-G-T BRCA2 c.4068G>T p.Leu1356Phe Missense 11/27 -
9-87366089-A-C NTRK2 c.1297-812A>C - IntronicSNV - 13/14
9-87417248-C-G NTRK2 c.1397-8209C>G - IntronicSNV - 14/14
9-87415028-G-T NTRK2 c.1397-10429G>T - IntronicSNV - 14/14
9-87415028-G-C NTRK2 c.1397-10429G>C - IntronicSNV - 14/14
20-57484241-C-T GNAS c.555C>T p.Ile185Ile Synonymous 7/13 -
8-133898964-C-G TG c.1347C>G p.Pro449Pro Synonymous 9/48 -
8-133880451-A-T TG c.159A>T p.Ala53Ala Synonymous 2/48 -
8-133880451-A-C TG c.159A>C p.Ala53Ala Synonymous 2/48 -
8-133880451-A-G TG c.159A>G p.Ala53Ala Synonymous 2/48 -
4-72635099-T-C GC c.77A>G p.Asn26Ser Missense 2/13 -
3-178922274-C-G PIK3CA c.1060-17C>G - IntronicSNV - 5/20
3-178922274-C-A PIK3CA c.1060-17C>A - IntronicSNV - 5/20
13-49051481-T-A RB1 c.2664-10T>A - IntronicSNV - 25/26
1-45293709-G-A PTCH2 c.1864C>T p.His622Tyr Missense 14/22 -
1-45293709-G-T PTCH2 c.1864C>A p.His622Asn Missense 14/22 -
7-55238941-G-T EGFR c.1919+35G>T - IntronicSNV - 16/27
18-52901846-C-T TCF4 c.1419G>A p.Pro473Pro Synonymous 16/20 -
8-133899255-G-A TG c.1638G>A p.Lys546Lys Synonymous 9/48 -
4-55139771-T-C PDGFRA c.1432T>C p.Ser478Pro Missense 10/23 -
17-29559932-C-A NF1 c.3496+33C>A - IntronicSNV - 26/56
17-29559932-C-T NF1 c.3496+33C>T - IntronicSNV - 26/56
7-55221655-G-A EGFR c.748-49G>A - IntronicSNV - 6/27
9-87372352-C-T NTRK2 c.1396+5352C>T - IntronicSNV - 14/14
5-149439494-C-A CSF1R c.1970-69G>T - IntronicSNV - 14/21
7-128850167-A-G SMO c.1467-37A>G - IntronicSNV - 8/11
7-138541151-C-G KIAA1549 c.5248-4136G>C - IntronicSNV - 16/19
17-66511627-G-A PRKAR1A c.87G>A p.Ala29Ala Synonymous 3/12 -
18-52901846-C-A TCF4 c.1419G>T p.Pro473Pro Synonymous 16/20 -
2-47739551-A-G KCNK12 c.*8495T>C - IntergenicSNV 2/2 -
7-55220177-A-G EGFR c.629-62A>G - IntronicSNV - 5/27
9-87390167-T-C NTRK2 c.1396+23167T>C - IntronicSNV - 14/14
9-87390167-T-A NTRK2 c.1396+23167T>A - IntronicSNV - 14/14
18-52928807-C-G TCF4 c.923-43G>C - IntronicSNV - 11/19
9-87365866-A-T NTRK2 c.1297-1035A>T - IntronicSNV - 13/14
14-95584095-A-C DICER1 c.1377-4T>G - IntronicSNV - 10/28
10-14691889-A-G FAM107B c.469+17744T>C - IntronicSNV - 2/4
17-7579472-G-T TP53 c.215C>A p.Pro72His Missense 4/11 -
11-94179125-T-C MRE11 c.1784-66A>G - IntronicSNV - 15/19
11-94179125-T-A MRE11 c.1784-66A>T - IntronicSNV - 15/19
9-2029018-G-A SMARCA2 c.1-5G>A - 5-UTRSNV 2/34 -
2-29541299-C-T ALK c.1547-29G>A - IntronicSNV - 7/28
X-76938153-G-A ATRX c.2595C>T p.His865His Synonymous 9/35 -
17-7579579-C-T TP53 c.108G>A p.Pro36Pro Synonymous 4/11 -
6-135522755-A-G MYB c.1579-22A>G - IntronicSNV - 12/14
13-32929232-A-G BRCA2 c.7242A>G p.Ser2414Ser Synonymous 14/27 -
19-51323501-A-G KLK1 c.405T>C p.Asp135Asp Synonymous 3/5 -
3-37083740-A-T MLH1 c.1668-19A>T - IntronicSNV - 14/18
20-57484633-C-T GNAS c.717C>T p.Asn239Asn Synonymous 9/13 -
19-17937758-C-A JAK3 c.3208-39G>T - IntronicSNV - 23/23
19-17937758-C-T JAK3 c.3208-39G>A - IntronicSNV - 23/23
8-39872935-T-A IDO2 c.1077T>A p.Tyr359* Nonsense 11/11 -
9-87357451-C-T NTRK2 c.1195+609C>T - IntronicSNV - 12/14
9-87391175-C-T NTRK2 c.1396+24175C>T - IntronicSNV - 14/14
9-87371228-G-T NTRK2 c.1396+4228G>T - IntronicSNV - 14/14
9-87371228-G-A NTRK2 c.1396+4228G>A - IntronicSNV - 14/14
8-133910005-A-G TG c.3113A>G p.Glu1038Gly Missense 12/48 -
5-112177171-G-A APC c.5880G>A p.Pro1960Pro Synonymous 16/16 -
1-120467876-G-A NOTCH2 c.4511+52C>T - IntronicSNV - 25/33
14-105242966-T-C AKT1 c.287+30A>G - IntronicSNV - 4/13
4-55133936-C-T PDGFRA c.1121+28C>T - IntronicSNV - 7/22
9-2060768-T-C SMARCA2 c.1522-48T>C - IntronicSNV - 8/33
19-11136215-C-G SMARCA4 c.3168+31C>G - IntronicSNV - 22/34
4-55991461-C-A KDR c.1-1G>T - 5-UTRSNV 1/30 -
22-24167659-AA-AAAA SMARCB1 c.986+57_986+58dup - IntronicInsertion - 7/8
17-41244435-T-C BRCA1 c.3113A>G p.Glu1038Gly Missense 10/23 -
9-87428807-C-T NTRK2 c.*3313C>T - 3-UTRSNV 15/15 -
7-148504859-T-TGACTTAAA EZH2 c.2196-62_2196-61insTTTAAGTC - IntronicInsertion - 19/19
5-1258822-T-C TERT c.2782-48A>G - IntronicSNV - 11/14
11-63535721-A-C C11orf95 c.139+235T>G - IntronicSNV - 1/4
X-44929077-C-A KDM6A c.2177C>A p.Thr726Lys Missense 17/29 -
X-44929077-C-T KDM6A c.2177C>T p.Thr726Met Missense 17/29 -
12-18443955-C-A PIK3C2G c.919+9C>A - IntronicSNV - 4/31
7-138541151-C-T KIAA1549 c.5248-4136G>A - IntronicSNV - 16/19
17-78086398-G-C GAA c.1776G>C p.Gly592Gly Synonymous 13/20 -
7-138541151-C-A KIAA1549 c.5248-4136G>T - IntronicSNV - 16/19
9-87383571-C-T NTRK2 c.1396+16571C>T - IntronicSNV - 14/14
4-55593464-A-C KIT c.1621A>C p.Met541Leu Missense 10/21 -
4-55593464-A-G KIT c.1621A>G p.Met541Val Missense 10/21 -
8-133898727-G-A TG c.1110G>A p.Gln370Gln Synonymous 9/48 -
4-72629133-T-A GC c.693A>T p.Ser231Ser Synonymous 6/13 -
4-72629133-T-C GC c.693A>G p.Ser231Ser Synonymous 6/13 -
4-72629133-T-G GC c.693A>C p.Ser231Ser Synonymous 6/13 -
9-2077888-A-G SMARCA2 c.2184+112A>G - IntronicSNV - 14/33
2-29416366-G-C ALK c.4587C>G p.Asp1529Glu Missense 29/29 -
12-18435452-C-T PIK3C2G c.437C>T p.Pro146Leu Missense 2/32 -
17-78082577-G-A GAA c.1276G>A p.Ala426Thr Missense 8/20 -
4-72634047-CC-C GC c.235delG p.Ala79Leufs*48 Frameshift 3/13 -
1-120471857-C-T NOTCH2 c.3656-22G>A - IntronicSNV - 22/33
17-78086745-C-A GAA c.1959C>A p.Thr653Thr Synonymous 14/20 -
9-87378922-C-G NTRK2 c.1396+11922C>G - IntronicSNV - 14/14
20-57484311-C-G GNAS c.585+40C>G - IntronicSNV - 7/12
17-29701202-A-G NF1 c.*29A>G - 3-UTRSNV 57/57 -
12-121434643-TCAT-TCATTCAT HNF1A c.1309+98_1309+101dup - IntronicInsertion - 6/9
2-29940529-A-C ALK c.702T>G p.Pro234Pro Synonymous 2/29 -
1-120611715-A-C NOTCH2 c.73+233T>G - IntronicSNV - 1/33
4-55127448-G-A PDGFRA c.236G>A p.Gly79Asp Missense 3/23 -
7-140485335-T-C BRAF c.1177+2013A>G - IntronicSNV - 9/17
4-72631352-T-G GC c.270A>C p.Ala90Ala Synonymous 4/13 -
13-28609846-A-T FLT3 c.1419-36T>A - IntronicSNV - 11/23
7-148529922-C-T EZH2 c.247-80G>A - IntronicSNV - 3/19
9-87378911-A-G NTRK2 c.1396+11911A>G - IntronicSNV - 14/14
9-87369611-G-A NTRK2 c.1396+2611G>A - IntronicSNV - 14/14
3-12645007-C-T RAF1 c.834+628G>A - IntronicSNV - 7/16
2-209104740-G-C IDH1 c.851-13C>G - IntronicSNV - 7/9
5-112175770-G-A APC c.4479G>A p.Thr1493Thr Synonymous 16/16 -
9-87416528-C-T NTRK2 c.1397-8929C>T - IntronicSNV - 14/14
9-87404070-A-G NTRK2 c.1397-21387A>G - IntronicSNV - 14/14
17-78078569-A-C GAA c.184A>C p.Arg62Arg Synonymous 2/20 -
1-27106975-C-T ARID1A c.5935C>T p.Leu1979Leu Synonymous 20/20 -
2-48030632-G-T MSH6 c.3246G>T p.Pro1082Pro Synonymous 5/10 -
2-48030632-G-A MSH6 c.3246G>A p.Pro1082Pro Synonymous 5/10 -
2-48030632-G-C MSH6 c.3246G>C p.Pro1082Pro Synonymous 5/10 -
4-55956204-C-T KDR c.3111G>A p.Ser1037Ser Synonymous 23/30 -
17-41244936-G-A BRCA1 c.2612C>T p.Pro871Leu Missense 10/23 -
17-41244936-G-C BRCA1 c.2612C>G p.Pro871Arg Missense 10/23 -
17-41244936-G-T BRCA1 c.2612C>A p.Pro871Gln Missense 10/23 -
9-87396407-C-T NTRK2 c.1397-29050C>T - IntronicSNV - 14/14
16-2125834-T-G TSC2 c.2580T>G p.Phe860Leu Missense 23/42 -
12-49436724-A-G KMT2D c.5645-63T>C - IntronicSNV - 25/53
8-133894172-TTGC-T TG c.703_705delTGC p.Cys235delCys InFrameDeletion 6/48 -
7-140490207-T-C BRAF c.1141-2823A>G - IntronicSNV - 8/17
17-78086745-C-T GAA c.1959C>T p.Thr653Thr Synonymous 14/20 -
17-78086745-C-G GAA c.1959C>G p.Thr653Thr Synonymous 14/20 -
16-2133640-C-G TSC2 c.3884-56C>G - IntronicSNV - 32/41
9-87391445-A-G NTRK2 c.1396+24445A>G - IntronicSNV - 14/14
16-71606466-A-C TAT c.534T>G p.Ser178Ser Synonymous 5/12 -
16-71606466-A-G TAT c.534T>C p.Ser178Ser Synonymous 5/12 -
16-71606466-A-T TAT c.534T>A p.Ser178Ser Synonymous 5/12 -
8-133880410-AA-A TG c.118delA p.Thr40Argfs*4 Frameshift 2/48 -
1-120539331-C-G NOTCH2 c.751+289G>C - IntronicSNV - 4/33
17-7579659-T-C TP53 c.96+41A>G - IntronicSNV - 3/10
17-7579659-T-G TP53 c.96+41A>C - IntronicSNV - 3/10
17-78085792-G-C GAA c.1647G>C p.Gly549Gly Synonymous 12/20 -
3-47125385-G-A SETD2 c.5885C>T p.Pro1962Leu Missense 12/21 -
3-47125385-G-T SETD2 c.5885C>A p.Pro1962His Missense 12/21 -
4-72629590-G-T GC c.537C>A p.Thr179Thr Synonymous 5/13 -
9-87415435-A-G NTRK2 c.1397-10022A>G - IntronicSNV - 14/14
11-69462910-G-A CCND1 c.723G>A p.Pro241Pro Synonymous 4/5 -
1-120480394-T-C NOTCH2 c.3337+86A>G - IntronicSNV - 20/33
X-39932808-G-A BCOR c.1791C>T p.His597His Synonymous 4/15 -
2-29541104-C-T ALK c.1647+66G>A - IntronicSNV - 8/28
3-142168331-C-T ATR c.7875G>A p.Gln2625Gln Synonymous 47/47 -
11-534242-A-G HRAS c.81T>C p.His27His Synonymous 2/6 -
17-78090884-G-A GAA c.2307G>A p.Leu769Leu Synonymous 16/20 -
3-142217537-A-G ATR c.5460T>C p.Tyr1820Tyr Synonymous 32/47 -
1-78429408-G-C FUBP1 c.1042-8C>G - IntronicSNV - 12/19
19-11107133-T-C SMARCA4 c.1762-37T>C - IntronicSNV - 10/34
17-41244000-T-A BRCA1 c.3548A>T p.Lys1183Ile Missense 10/23 -
17-41244000-T-C BRCA1 c.3548A>G p.Lys1183Arg Missense 10/23 -
4-72629598-T-C GC c.529A>G p.Ser177Gly Missense 5/13 -
8-133931652-T-G TG c.4410T>G p.Asp1470Glu Missense 21/48 -
8-133931652-T-A TG c.4410T>A p.Asp1470Glu Missense 21/48 -
12-18747528-C-T PIK3C2G c.3964+25C>T - IntronicSNV - 29/31
22-21340088-T-C LZTR1 c.264-42T>C - IntronicSNV - 2/20
22-21340088-T-G LZTR1 c.264-42T>G - IntronicSNV - 2/20
22-21348580-G-A LZTR1 c.1615+22G>A - IntronicSNV - 14/20
7-55228053-A-G EGFR c.1498+22A>G - IntronicSNV - 12/27
7-55228053-A-C EGFR c.1498+22A>C - IntronicSNV - 12/27
1-51439777-C-T CDKN2C c.342C>T p.Gly114Gly Synonymous 3/3 -
6-26032274-T-C HIST1H3B c.15A>G p.Lys5Lys Synonymous 1/1 -
7-55233185-C-T EGFR c.1880+55C>T - IntronicSNV - 15/27
17-41216021-G-A BRCA1 c.5075-53C>T - IntronicSNV - 16/22
11-63534596-G-T C11orf95 c.140-820C>A - IntronicSNV - 1/4
5-112162854-T-G APC c.1458T>G p.Tyr486* Nonsense 12/16 -
9-2170607-G-A SMARCA2 c.4253+135G>A - IntronicSNV - 29/33
9-133755528-A-G ABL1 c.1554A>G p.Glu518Glu Synonymous 9/11 -
10-43600689-A-G RET c.867+48A>G - IntronicSNV - 4/19
9-87394832-G-A NTRK2 c.1396+27832G>A - IntronicSNV - 14/14
7-138550096-C-T KIAA1549 c.4929+2625G>A - IntronicSNV - 15/19
7-138550096-C-A KIAA1549 c.4929+2625G>T - IntronicSNV - 15/19
9-87416478-G-A NTRK2 c.1397-8979G>A - IntronicSNV - 14/14
4-55146406-T-TTGTAGGTCCCCCAG PDGFRA c.2157-77_2157-76insTGTAGGTCCCCCAG - IntronicInsertion - 15/22
7-140486743-T-C BRAF c.1177+605A>G - IntronicSNV - 9/17
13-32929232-A-T BRCA2 c.7242A>T p.Ser2414Ser Synonymous 14/27 -
9-139399070-G-A NOTCH1 c.5018+55C>T - IntronicSNV - 26/33
9-139399070-G-C NOTCH1 c.5018+55C>G - IntronicSNV - 26/33
9-2191309-C-G SMARCA2 c.4638C>G p.Asp1546Glu Missense 33/34 -
2-48010488-G-C MSH6 c.116G>C p.Gly39Ala Missense 1/10 -
9-133754032-A-G ABL1 c.1480+78A>G - IntronicSNV - 8/10
6-135522939-T-C MYB c.1689+52T>C - IntronicSNV - 13/14
17-41226488-C-A BRCA1 c.4535G>T p.Ser1512Ile Missense 14/23 -
10-123279745-C-T FGFR2 c.749-62G>A - IntronicSNV - 6/17
4-55964370-C-G KDR c.2443G>C p.Glu815Gln Missense 17/30 -
5-161113004-G-C GABRA6 c.9G>C p.Ser3Ser Synonymous 1/9 -
5-161113004-G-A GABRA6 c.9G>A p.Ser3Ser Synonymous 1/9 -
9-139410589-A-G NOTCH1 c.1556-43T>C - IntronicSNV - 9/33
4-55161295-G-A PDGFRA c.3126G>A p.Ser1042Ser Synonymous 23/23 -
9-133710819-T-TC ABL1 c.137-18632_137-18631insC - IntronicInsertion - 1/10
9-87386499-A-G NTRK2 c.1396+19499A>G - IntronicSNV - 14/14
19-51323378-C-T KLK1 c.496+32G>A - IntronicSNV - 3/4
16-68862165-C-A CDH1 c.2253C>A p.Asn751Lys Missense 14/16 -
7-138544653-C-T KIAA1549 c.5247+1232G>A - IntronicSNV - 16/19
1-120463044-C-T NOTCH2 c.5311-24G>A - IntronicSNV - 29/33
7-55238087-C-T EGFR c.1881-781C>T - IntronicSNV - 15/27
7-140486288-C-T BRAF c.1177+1060G>A - IntronicSNV - 9/17
9-87419082-G-T NTRK2 c.1397-6375G>T - IntronicSNV - 14/14
9-87411744-T-A NTRK2 c.1397-13713T>A - IntronicSNV - 14/14
12-49422795-G-A KMT2D c.14251+49C>T - IntronicSNV - 44/53
12-18473881-T-C PIK3C2G c.1138-15T>C - IntronicSNV - 6/31
17-41251931-G-A BRCA1 c.442-34C>T - IntronicSNV - 6/22
2-29444095-C-G ALK c.3516-394G>C - IntronicSNV - 22/28
9-139410589-A-C NOTCH1 c.1556-43T>G - IntronicSNV - 9/33
22-30055674-A-G NF2 c.675+1421A>G - IntronicSNV - 7/15
12-49424534-G-A KMT2D c.13689C>T p.Pro4563Pro Synonymous 41/54 -
14-105258893-A-C AKT1 c.46+42T>G - IntronicSNV - 2/13
14-105258893-A-G AKT1 c.46+42T>C - IntronicSNV - 2/13
9-87396208-A-G NTRK2 c.1396+29208A>G - IntronicSNV - 14/14
9-87396208-A-C NTRK2 c.1396+29208A>C - IntronicSNV - 14/14
5-149452844-C-T CSF1R c.1082+20G>A - IntronicSNV - 7/21
5-131944276-A-G RAD50 c.2719-31A>G - IntronicSNV - 16/24
2-29432776-T-C ALK c.3744-32A>G - IntronicSNV - 24/28
4-72618352-T-A GC c.1278A>T p.Leu426Leu Synonymous 11/13 -
4-72618352-T-C GC c.1278A>G p.Leu426Leu Synonymous 11/13 -
1-120469077-T-G NOTCH2 c.4005+45A>C - IntronicSNV - 24/33
4-55980456-C-T KDR c.659-24G>A - IntronicSNV - 5/29
19-40744697-T-C AKT2 c.708+115A>G - IntronicSNV - 8/13
4-55146406-T-TTGTAGGTCCTCCAG PDGFRA c.2157-77_2157-76insTGTAGGTCCTCCAG - IntronicInsertion - 15/22
16-2221642-C-T TRAF7 c.475+36C>T - IntronicSNV - 7/20
12-121416622-C-G HNF1A c.51C>G p.Leu17Leu Synonymous 1/10 -
12-121416622-C-T HNF1A c.51C>T p.Leu17Leu Synonymous 1/10 -
4-1808523-G-A FGFR3 c.2169-33G>A - IntronicSNV - 16/17
9-87402136-T-C NTRK2 c.1397-23321T>C - IntronicSNV - 14/14
9-139391321-G-A NOTCH1 c.6870C>T p.Ser2290Ser Synonymous 34/34 -
4-72618254-G-C GC c.1376C>G p.Pro459Arg Missense 11/13 -
9-87406956-G-T NTRK2 c.1397-18501G>T - IntronicSNV - 14/14
11-94200962-A-G MRE11 c.1098+17T>C - IntronicSNV - 10/19
11-94200962-A-C MRE11 c.1098+17T>G - IntronicSNV - 10/19
7-55233089-C-T EGFR c.1839C>T p.Ala613Ala Synonymous 15/28 -
2-29445458-G-T ALK c.3375C>A p.Gly1125Gly Synonymous 21/29 -
11-94212048-C-T MRE11 c.403-6G>A - IntronicSNV - 5/19
10-103870951-C-T LDB1 c.174-50G>A - IntronicSNV - 3/10
9-87362412-T-G NTRK2 c.1296+2424T>G - IntronicSNV - 13/14
9-87362412-T-C NTRK2 c.1296+2424T>C - IntronicSNV - 13/14
9-87362412-T-A NTRK2 c.1296+2424T>A - IntronicSNV - 13/14
11-108183167-A-G ATM c.5948A>G p.Asn1983Ser Missense 40/63 -
9-2116037-G-T SMARCA2 c.3672G>T p.Glu1224Asp Missense 25/34 -
1-51439959-C-G CDKN2C c.*17C>G - 3-UTRSNV 3/3 -
9-2116037-G-A SMARCA2 c.3672G>A p.Glu1224Glu Synonymous 25/34 -
16-68842480-G-C CDH1 c.531+10G>C - IntronicSNV - 4/15
1-204506077-T-C MDM4 c.344-481T>C - IntronicSNV - 5/10
X-76952289-C-G ATRX c.243-97G>C - IntronicSNV - 4/34
19-51323473-C-G KLK1 c.433G>C p.Glu145Gln Missense 3/5 -
15-76413529-G-A TMEM266 c.1-13076G>A - IntronicSNV - 1/10
X-44833826-T-C KDM6A c.335-85T>C - IntronicSNV - 3/28
19-17946054-G-T JAK3 c.1915-30C>A - IntronicSNV - 14/23
10-103870951-C-A LDB1 c.174-50G>T - IntronicSNV - 3/10
17-41219560-C-A BRCA1 c.5074+65G>T - IntronicSNV - 16/22
16-3900637-C-T CREBBP c.459G>A p.Pro153Pro Synonymous 2/31 -
9-139407932-A-G NOTCH1 c.2265T>C p.Asn755Asn Synonymous 14/34 -
9-2170512-G-C SMARCA2 c.4253+40G>C - IntronicSNV - 29/33
9-2170512-G-A SMARCA2 c.4253+40G>A - IntronicSNV - 29/33
19-51326950-C-T KLK1 c.46+9G>A - IntronicSNV - 1/4
8-67514020-A-G MYBL1 c.127-16T>C - IntronicSNV - 2/15
9-87413876-C-A NTRK2 c.1397-11581C>A - IntronicSNV - 14/14
9-87413876-C-T NTRK2 c.1397-11581C>T - IntronicSNV - 14/14
12-121432302-T-A HNF1A c.955+94T>A - IntronicSNV - 4/9
1-110300504-A-T EPS8L3 c.833-19T>A - IntronicSNV - 9/18
17-78091428-A-T GAA c.2361A>T p.Pro787Pro Synonymous 17/20 -
9-87364130-C-G NTRK2 c.1297-2771C>G - IntronicSNV - 13/14
9-87364130-C-T NTRK2 c.1297-2771C>T - IntronicSNV - 13/14
10-43615633-C-A RET c.2712C>A p.Ser904Ser Synonymous 15/20 -
10-43615633-C-G RET c.2712C>G p.Ser904Ser Synonymous 15/20 -
9-87365120-A-T NTRK2 c.1297-1781A>T - IntronicSNV - 13/14
9-87365120-A-G NTRK2 c.1297-1781A>G - IntronicSNV - 13/14
12-49434074-C-G KMT2D c.7479G>C p.Gly2493Gly Synonymous 31/54 -
8-133880461-AG-CT TG c.169_170delAGinsCT p.Ser57Leu Missense 2/48 -
19-3110098-G-C GNA11 c.137-49G>C - IntronicSNV - 1/6
19-3110098-G-A GNA11 c.137-49G>A - IntronicSNV - 1/6
8-133899450-A-C TG c.1833A>C p.Thr611Thr Synonymous 9/48 -
8-133899450-A-G TG c.1833A>G p.Thr611Thr Synonymous 9/48 -
8-133899450-A-T TG c.1833A>T p.Thr611Thr Synonymous 9/48 -
9-87410291-C-T NTRK2 c.1397-15166C>T - IntronicSNV - 14/14
7-138546955-T-G KIAA1549 c.4930-753A>C - IntronicSNV - 15/19
7-138546955-T-C KIAA1549 c.4930-753A>G - IntronicSNV - 15/19
1-120458004-A-T NOTCH2 c.7341T>A p.Gly2447Gly Synonymous 34/34 -
5-1253887-C-T TERT c.3166G>A p.Ala1056Thr Missense 15/15 -
3-9784705-C-T BRPF1 c.2079C>T p.Tyr693Tyr Synonymous 7/14 -
12-121435475-G-A HNF1A c.1501+7G>A - IntronicSNV - 7/9
9-87405212-G-A NTRK2 c.1397-20245G>A - IntronicSNV - 14/14
19-11097709-C-T SMARCA4 c.859+30C>T - IntronicSNV - 5/34
12-121432302-T-G HNF1A c.955+94T>G - IntronicSNV - 4/9
8-133899546-C-G TG c.1929C>G p.Gly643Gly Synonymous 9/48 -
8-133899546-C-A TG c.1929C>A p.Gly643Gly Synonymous 9/48 -
8-133899546-C-T TG c.1929C>T p.Gly643Gly Synonymous 9/48 -
17-78086425-G-C GAA c.1803G>C p.Ser601Ser Synonymous 13/20 -
17-78086425-G-T GAA c.1803G>T p.Ser601Ser Synonymous 13/20 -
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
19-11129600-C-T SMARCA4 c.2439-33C>T - IntronicSNV - 16/34
1-226252232-C-T H3F3A c.128+52C>T - IntronicSNV - 2/3
8-38272582-C-A FGFR1 c.1849-163G>T - IntronicSNV - 13/17
5-1280477-G-A TERT c.1770-24C>T - IntronicSNV - 3/14
17-29652931-G-A NF1 c.4866G>A p.Val1622Val Synonymous 36/57 -
17-29652931-G-T NF1 c.4866G>T p.Val1622Val Synonymous 36/57 -
7-140486513-A-G BRAF c.1177+835T>C - IntronicSNV - 9/17
19-17951178-G-A JAK3 c.1143-28C>T - IntronicSNV - 8/23
19-3110361-C-T GNA11 c.321+30C>T - IntronicSNV - 2/6
19-3110361-C-G GNA11 c.321+30C>G - IntronicSNV - 2/6
5-1279430-C-T TERT c.2106G>A p.Pro702Pro Synonymous 5/15 -
7-128849111-C-T SMO c.1358-19C>T - IntronicSNV - 7/11
1-27057621-A-C ARID1A c.1351-22A>C - IntronicSNV - 2/19
5-149450132-T-C CSF1R c.1085A>G p.His362Arg Missense 8/22 -
9-139410177-T-C NOTCH1 c.1670-9A>G - IntronicSNV - 10/33
X-123184027-C-T STAG2 c.894-9C>T - IntronicSNV - 9/32
X-123184027-C-G STAG2 c.894-9C>G - IntronicSNV - 9/32
7-128843169-C-T SMO c.332-56C>T - IntronicSNV - 1/11
9-87361520-T-C NTRK2 c.1296+1532T>C - IntronicSNV - 13/14
9-139418260-A-G NOTCH1 c.312T>C p.Asn104Asn Synonymous 3/34 -
1-226253316-G-T H3F3A c.129-41G>T - IntronicSNV - 2/3
18-52928807-C-A TCF4 c.923-43G>T - IntronicSNV - 11/19
9-133729620-T-G ABL1 c.306T>G p.Thr102Thr Synonymous 2/11 -
19-11169514-C-T SMARCA4 c.4584C>T p.Asp1528Asp Synonymous 32/35 -
2-158637137-A-T ACVR1 c.68-25T>A - IntronicSNV - 3/10
2-158637137-A-G ACVR1 c.68-25T>C - IntronicSNV - 3/10
12-46244372-C-T ARID2 c.2466C>T p.Ile822Ile Synonymous 15/21 -
7-116435768-C-T MET c.3858C>T p.Asp1286Asp Synonymous 20/21 -
13-28674628-T-C FLT3 c.20A>G p.Asp7Gly Missense 1/24 -
5-161128761-C-G GABRA6 c.1344C>G p.Val448Val Synonymous 9/9 -
5-161128761-C-T GABRA6 c.1344C>T p.Val448Val Synonymous 9/9 -
4-55972974-T-A KDR c.1416A>T p.Gln472His Missense 11/30 -
9-87369508-C-T NTRK2 c.1396+2508C>T - IntronicSNV - 14/14
4-55593464-A-T KIT c.1621A>T p.Met541Leu Missense 10/21 -
7-138539626-G-A KIAA1549 c.5248-2611C>T - IntronicSNV - 16/19
16-85688341-C-T GSE1 c.600-59C>T - IntronicSNV - 4/15
3-37053568-A-C MLH1 c.655A>C p.Ile219Leu Missense 8/19 -
3-37053568-A-G MLH1 c.655A>G p.Ile219Val Missense 8/19 -
3-37053568-A-T MLH1 c.655A>T p.Ile219Phe Missense 8/19 -
21-38477330-G-A TTC3 c.846-3362G>A - IntronicSNV - 10/45
18-53177774-G-C TCF4 c.146-46406C>G - IntronicSNV - 3/19
22-21349676-T-A LZTR1 c.1943-359T>A - IntronicSNV - 16/20
12-57494360-T-G STAT6 c.1513-487A>C - IntronicSNV - 13/21
13-32936646-T-C BRCA2 c.7806-14T>C - IntronicSNV - 16/26
11-108225661-A-T ATM c.8850+60A>T - IntronicSNV - 61/62
11-108225661-A-G ATM c.8850+60A>G - IntronicSNV - 61/62
9-87392708-A-G NTRK2 c.1396+25708A>G - IntronicSNV - 14/14
9-87370565-G-A NTRK2 c.1396+3565G>A - IntronicSNV - 14/14
7-116435768-C-G MET c.3858C>G p.Asp1286Glu Missense 20/21 -
3-37062040-T-G MLH1 c.1038+86T>G - IntronicSNV - 11/18
3-37062040-T-C MLH1 c.1038+86T>C - IntronicSNV - 11/18
1-45292173-G-A PTCH2 c.2963C>T p.Thr988Met Missense 18/22 -
9-139405093-G-A NOTCH1 c.2740+12C>T - IntronicSNV - 17/33
19-40739721-G-T AKT2 c.*58C>A - 3-UTRSNV 14/14 -
4-55968180-T-A KDR c.2150A>T p.Asp717Val Missense 15/30 -
20-57484934-C-T GNAS c.840-72C>T - IntronicSNV - 10/12
7-116397572-A-G MET c.1944A>G p.Gln648Gln Synonymous 7/21 -
4-72649708-C-G GC c.28G>C p.Ala10Pro Missense 1/13 -
8-39862881-C-T IDO2 c.742C>T p.Arg248Trp Missense 9/11 -
7-138530264-T-C KIAA1549 c.5295-1045A>G - IntronicSNV - 17/19
1-120465262-C-T NOTCH2 c.4999G>A p.Val1667Ile Missense 27/34 -
4-55980239-C-T KDR c.798+54G>A - IntronicSNV - 6/29
13-28610183-A-G FLT3 c.1310-3T>C - IntronicSNV - 10/23
9-87365308-A-T NTRK2 c.1297-1593A>T - IntronicSNV - 13/14
4-55968053-A-C KDR c.2266+11T>G - IntronicSNV - 15/29
4-55968053-A-G KDR c.2266+11T>C - IntronicSNV - 15/29
9-87417373-A-G NTRK2 c.1397-8084A>G - IntronicSNV - 14/14
9-87420283-T-C NTRK2 c.1397-5174T>C - IntronicSNV - 14/14
7-140483400-T-C BRAF c.1178-443A>G - IntronicSNV - 9/17
9-2086804-G-A SMARCA2 c.2527-25G>A - IntronicSNV - 17/33
3-37070437-G-A MLH1 c.1558+14G>A - IntronicSNV - 13/18
4-55979558-C-A KDR c.889G>T p.Val297Leu Missense 7/30 -
4-55979558-C-T KDR c.889G>A p.Val297Ile Missense 7/30 -
4-55152040-C-T PDGFRA c.2472C>T p.Val824Val Synonymous 18/23 -
4-55152040-C-A PDGFRA c.2472C>A p.Val824Val Synonymous 18/23 -
10-131265665-T-G MGMT c.-13+105T>G - intron_variant - 1/4
5-112177172-G-A APC c.5881G>A p.Val1961Ile Missense 16/16 -
3-142218046-C-T ATR c.5380+423G>A - IntronicSNV - 31/46
12-18496228-G-T PIK3C2G c.1396-33G>T - IntronicSNV - 9/31
12-18496228-G-A PIK3C2G c.1396-33G>A - IntronicSNV - 9/31
9-80409345-A-G GNAQ c.735+34T>C - IntronicSNV - 5/6
2-48027520-G-C MSH6 c.2398G>C p.Val800Leu Missense 4/10 -
16-71607508-G-C TAT c.342C>G p.Gly114Gly Synonymous 4/12 -
9-87395876-T-G NTRK2 c.1396+28876T>G - IntronicSNV - 14/14
9-139391636-G-A NOTCH1 c.6555C>T p.Asp2185Asp Synonymous 34/34 -
17-78082382-C-T GAA c.1170C>T p.Asn390Asn Synonymous 7/20 -
8-133981720-GTG-ATC TG c.5881_5883delGTGinsATC p.Val1961Ile Missense 32/48 -
9-2182290-G-A SMARCA2 c.4461+48G>A - IntronicSNV - 31/33
9-139411880-G-A NOTCH1 c.1442-43C>T - IntronicSNV - 8/33
19-3119239-C-T GNA11 c.771C>T p.Thr257Thr Synonymous 6/7 -
16-85690006-T-C GSE1 c.1047T>C p.Arg349Arg Synonymous 7/16 -
X-9476990-A-T TBL1X c.-131+7101A>T - intron_variant - 2/17
X-9476990-A-G TBL1X c.-131+7101A>G - intron_variant - 2/17
9-87385227-A-T NTRK2 c.1396+18227A>T - IntronicSNV - 14/14
3-37034946-G-A MLH1 c.1-93G>A - 5-UTRSNV 1/19 -
17-29701202-A-C NF1 c.*29A>C - 3-UTRSNV 57/57 -
9-87387192-A-G NTRK2 c.1396+20192A>G - IntronicSNV - 14/14
9-87405604-A-C NTRK2 c.1397-19853A>C - IntronicSNV - 14/14
2-29940529-A-T ALK c.702T>A p.Pro234Pro Synonymous 2/29 -
7-138532679-T-TT KIAA1549 c.5295-3459_5295-3459dup - IntronicInsertion - 17/19
9-87416027-A-G NTRK2 c.1397-9430A>G - IntronicSNV - 14/14
5-1293389-C-G TERT c.1573+39G>C - IntronicSNV - 2/14
9-87414794-A-T NTRK2 c.1397-10663A>T - IntronicSNV - 14/14
11-63534933-T-C C11orf95 c.139+1023A>G - IntronicSNV - 1/4
7-138547941-G-C KIAA1549 c.4930-1739C>G - IntronicSNV - 15/19
1-204507128-T-G MDM4 c.412-209T>G - IntronicSNV - 6/10
X-39933339-A-G BCOR c.1260T>C p.Asp420Asp Synonymous 4/15 -
X-39933339-A-T BCOR c.1260T>A p.Asp420Glu Missense 4/15 -
6-36168628-A-G BRPF3 c.529A>G p.Ser177Gly Missense 2/13 -
10-131265452-C-T MGMT c.1-28C>T - IntergenicSNV 1/5 -
X-44966795-T-C KDM6A c.4005+14T>C - IntronicSNV - 27/28
19-51323733-C-G KLK1 c.207-34G>C - IntronicSNV - 2/4
5-131892979-G-A RAD50 c.1-38G>A - 5-UTRSNV 1/25 -
5-131892979-G-C RAD50 c.1-38G>C - 5-UTRSNV 1/25 -
9-98221861-T-C PTCH1 c.2887+21A>G - IntronicSNV - 17/23
19-17940842-G-A JAK3 c.3207+75C>T - IntronicSNV - 23/23
19-17952609-T-G JAK3 c.862-38A>C - IntronicSNV - 6/23
17-66520244-T-C PRKAR1A c.502+26T>C - IntronicSNV - 6/11
16-71606093-C-T TAT c.702G>A p.Leu234Leu Synonymous 6/12 -
16-71606093-C-A TAT c.702G>T p.Leu234Leu Synonymous 6/12 -
16-71606093-C-G TAT c.702G>C p.Leu234Leu Synonymous 6/12 -
1-45293752-T-C PTCH2 c.1821A>G p.Glu607Glu Synonymous 14/22 -
9-87421631-A-G NTRK2 c.1397-3826A>G - IntronicSNV - 14/14
10-131334511-G-A MGMT c.88G>A p.Gly30Arg Missense 2/5 -
19-3119406-G-A GNA11 c.889+49G>A - IntronicSNV - 6/6
9-139405261-C-T NOTCH1 c.2588-4G>A - IntronicSNV - 16/33
9-139405261-C-A NOTCH1 c.2588-4G>T - IntronicSNV - 16/33
9-139405261-C-G NOTCH1 c.2588-4G>C - IntronicSNV - 16/33
7-138543324-C-T KIAA1549 c.5247+2561G>A - IntronicSNV - 16/19
19-11170839-T-C SMARCA4 c.4887T>C p.Asp1629Asp Synonymous 34/35 -
11-94203868-A-T MRE11 c.846-60T>A - IntronicSNV - 8/19
11-94203868-A-C MRE11 c.846-60T>G - IntronicSNV - 8/19
11-94203868-A-G MRE11 c.846-60T>C - IntronicSNV - 8/19
17-78092156-T-C GAA c.2646T>C p.Asn882Asn Synonymous 18/20 -
2-159971363-A-G TANC1 c.259+17017A>G - IntronicSNV - 4/26
7-140485690-C-T BRAF c.1177+1658G>A - IntronicSNV - 9/17
7-140485690-C-A BRAF c.1177+1658G>T - IntronicSNV - 9/17
7-138541212-C-T KIAA1549 c.5248-4197G>A - IntronicSNV - 16/19
7-140492411-T-C BRAF c.1140+1697A>G - IntronicSNV - 8/17
9-87426187-C-T NTRK2 c.*693C>T - 3-UTRSNV 15/15 -
9-87426298-A-G NTRK2 c.*804A>G - 3-UTRSNV 15/15 -
2-209104740-G-A IDH1 c.851-13C>T - IntronicSNV - 7/9
10-131506192-C-T MGMT c.159C>T - synonymous_variant 3/5 -
10-131506192-C-A MGMT c.159C>A - synonymous_variant 3/5 -
7-92355225-C-T CDK6 c.370-118G>A - IntronicSNV - 3/7
17-66524987-G-A PRKAR1A c.770-24G>A - IntronicSNV - 9/11
17-66524987-G-T PRKAR1A c.770-24G>T - IntronicSNV - 9/11
4-55599268-C-T KIT c.2394C>T p.Ile798Ile Synonymous 17/21 -
10-104386934-T-C SUFU c.1299T>C p.Ile433Ile Synonymous 11/12 -
8-133899309-C-G TG c.1692C>G p.Ala564Ala Synonymous 9/48 -
8-133899309-C-T TG c.1692C>T p.Ala564Ala Synonymous 9/48 -
20-57484363-G-A GNAS c.586-42G>A - IntronicSNV - 7/12
20-57484363-G-C GNAS c.586-42G>C - IntronicSNV - 7/12
9-87398906-G-T NTRK2 c.1397-26551G>T - IntronicSNV - 14/14
5-146648337-G-T STK32A c.53-9350G>T - IntronicSNV - 2/6
2-158636910-G-A ACVR1 c.270C>T p.Ala90Ala Synonymous 4/11 -
7-138534762-G-A KIAA1549 c.5294+2207C>T - IntronicSNV - 17/19
7-116411923-C-T MET c.2908C>T p.Arg970Cys Missense 14/21 -
20-57478807-C-T GNAS c.393C>T p.Ile131Ile Synonymous 5/13 -
20-57478807-C-G GNAS c.393C>G p.Ile131Met Missense 5/13 -
9-87387622-A-G NTRK2 c.1396+20622A>G - IntronicSNV - 14/14
6-157519938-A-G ARID1B c.4014-7A>G - IntronicSNV - 16/19
7-138540942-G-A KIAA1549 c.5248-3927C>T - IntronicSNV - 16/19
4-55161391-T-C PDGFRA c.3222T>C p.Asp1074Asp Synonymous 23/23 -
16-2115506-C-T TSC2 c.1600-14C>T - IntronicSNV - 15/41
16-2115506-C-A TSC2 c.1600-14C>A - IntronicSNV - 15/41
22-29130458-T-C CHEK2 c.252A>G p.Glu84Glu Synonymous 2/16 -
7-138546803-T-A KIAA1549 c.4930-601A>T - IntronicSNV - 15/19
7-138546803-T-C KIAA1549 c.4930-601A>G - IntronicSNV - 15/19
9-87390418-T-C NTRK2 c.1396+23418T>C - IntronicSNV - 14/14
9-139393307-A-G NOTCH1 c.6180+44T>C - IntronicSNV - 33/33
1-204501383-C-T MDM4 c.343+9C>T - IntronicSNV - 5/10
12-121434729-A-AA HNF1A c.1309+184_1309+184dup - IntronicInsertion - 6/9
16-71602656-C-T TAT c.1182G>A p.Glu394Glu Synonymous 11/12 -
11-108163487-C-T ATM c.4578C>T p.Pro1526Pro Synonymous 30/63 -
6-26045737-C-G HIST1H3C c.99C>G p.Thr33Thr Synonymous 1/1 -
2-242680430-A-C D2HGDH c.293-18A>C - IntronicSNV - 2/9
2-242680430-A-T D2HGDH c.293-18A>T - IntronicSNV - 2/9
9-87409715-C-A NTRK2 c.1397-15742C>A - IntronicSNV - 14/14
9-87409715-C-T NTRK2 c.1397-15742C>T - IntronicSNV - 14/14
16-2125834-T-C TSC2 c.2580T>C p.Phe860Phe Synonymous 23/42 -
2-242682029-T-C D2HGDH c.490+40T>C - IntronicSNV - 4/9
10-104389932-T-A SUFU c.*20T>A - 3-UTRSNV 12/12 -
9-135781563-G-A TSC1 c.1439-37C>T - IntronicSNV - 14/22
4-55968053-A-T KDR c.2266+11T>A - IntronicSNV - 15/29
16-71606538-CAC-ATC TAT c.460_462delGTGinsATC p.Val154Ile Missense 5/12 -
9-87424241-T-C NTRK2 c.1397-1216T>C - IntronicSNV - 14/14
7-55238874-T-A EGFR c.1887T>A p.Thr629Thr Synonymous 16/28 -
7-55238874-T-G EGFR c.1887T>G p.Thr629Thr Synonymous 16/28 -
7-116436097-G-A MET c.4092G>A p.Pro1364Pro Synonymous 21/21 -
5-161128627-C-T GABRA6 c.1210C>T p.Pro404Ser Missense 9/9 -
12-49442875-G-C KMT2D c.4020+13C>G - IntronicSNV - 12/53
4-55143577-G-A PDGFRA c.1809G>A p.Ala603Ala Synonymous 13/23 -
7-128845018-C-T SMO c.538-26C>T - IntronicSNV - 2/11
16-2225823-G-A TRAF7 c.1627-12G>A - IntronicSNV - 17/20
19-3119389-G-T GNA11 c.889+32G>T - IntronicSNV - 6/6
19-3119389-G-A GNA11 c.889+32G>A - IntronicSNV - 6/6
1-27089446-G-C ARID1A c.2420-18G>C - IntronicSNV - 7/19
19-40739513-A-G AKT2 c.*266T>C - 3-UTRSNV 14/14 -
6-157488325-C-T ARID1B c.3025+6C>T - IntronicSNV - 10/19
6-33288075-C-A DAXX c.1252-74G>T - IntronicSNV - 4/7
4-72631352-T-C GC c.270A>G p.Ala90Ala Synonymous 4/13 -
1-120611498-G-C NOTCH2 c.73+450C>G - IntronicSNV - 1/33
1-120611498-G-A NOTCH2 c.73+450C>T - IntronicSNV - 1/33
9-98218475-C-CC PTCH1 c.3306+83_3306+83dup - IntronicInsertion - 19/23
4-72631352-T-A GC c.270A>T p.Ala90Ala Synonymous 4/13 -
1-45297784-C-T PTCH2 c.455+40G>A - IntronicSNV - 3/21
12-25368462-C-T KRAS c.483G>A p.Arg161Arg Synonymous 5/6 -
9-87403399-T-C NTRK2 c.1397-22058T>C - IntronicSNV - 14/14
5-149452793-C-T CSF1R c.1082+71G>A - IntronicSNV - 7/21
19-17952185-G-A JAK3 c.1142+13C>T - IntronicSNV - 8/23
6-157522360-G-A ARID1B c.4632G>A p.Pro1544Pro Synonymous 18/20 -
4-55151711-C-G PDGFRA c.2439+58C>G - IntronicSNV - 17/22
8-67479098-A-G MYBL1 c.1845+13T>C - IntronicSNV - 13/15
9-87385256-A-C NTRK2 c.1396+18256A>C - IntronicSNV - 14/14
10-43610119-G-A RET c.2071G>A p.Gly691Ser Missense 11/20 -
9-87391887-C-A NTRK2 c.1396+24887C>A - IntronicSNV - 14/14
9-87417787-T-G NTRK2 c.1397-7670T>G - IntronicSNV - 14/14
1-120469077-T-C NOTCH2 c.4005+45A>G - IntronicSNV - 24/33
9-87317229-G-A NTRK2 c.288-34G>A - IntronicSNV - 5/14
8-38277066-C-T FGFR1 c.1269G>A p.Leu423Leu Synonymous 9/18 -
2-69260357-A-G ANTXR1 c.153-6819A>G - IntronicSNV - 1/17
2-69260357-A-T ANTXR1 c.153-6819A>T - IntronicSNV - 1/17
9-87376774-A-G NTRK2 c.1396+9774A>G - IntronicSNV - 14/14
9-2039973-C-T SMARCA2 c.790+73C>T - IntronicSNV - 4/33
1-120611876-C-G NOTCH2 c.73+72G>C - IntronicSNV - 1/33
8-38287555-C-T FGFR1 c.92-89G>A - IntronicSNV - 2/17
16-2130384-G-A TSC2 c.3610+6G>A - IntronicSNV - 30/41
10-43613843-G-T RET c.2307G>T p.Leu769Leu Synonymous 13/20 -
10-43595968-A-C RET c.135A>C p.Ala45Ala Synonymous 2/20 -
10-43595968-A-G RET c.135A>G p.Ala45Ala Synonymous 2/20 -
17-41222975-C-T BRCA1 c.4956G>A p.Met1652Ile Missense 15/23 -
17-29508775-G-T NF1 c.702G>T p.Leu234Leu Synonymous 7/57 -
4-1807894-G-A FGFR3 c.1953G>A p.Thr651Thr Synonymous 14/18 -
5-131945121-C-T RAD50 c.3036+33C>T - IntronicSNV - 19/24
7-138532408-T-C KIAA1549 c.5295-3189A>G - IntronicSNV - 17/19
8-133906028-C-T TG c.2855C>T p.Pro952Leu Missense 11/48 -
7-138544500-C-T KIAA1549 c.5247+1385G>A - IntronicSNV - 16/19
7-140449150-T-C BRAF c.1929A>G p.Gly643Gly Synonymous 16/18 -
7-138539862-G-C KIAA1549 c.5248-2847C>G - IntronicSNV - 16/19
4-128607832-T-C INTU c.1260-1001T>C - IntronicSNV - 7/15
9-87416825-A-T NTRK2 c.1397-8632A>T - IntronicSNV - 14/14
9-87416825-A-G NTRK2 c.1397-8632A>G - IntronicSNV - 14/14
7-148506064-A-T EZH2 c.2195+99T>A - IntronicSNV - 19/19
7-148506064-A-G EZH2 c.2195+99T>C - IntronicSNV - 19/19
17-7579619-G-T TP53 c.97-29C>A - IntronicSNV - 3/10
9-2077875-T-C SMARCA2 c.2184+99T>C - IntronicSNV - 14/33
7-148504859-T-TGACTA EZH2 c.2196-62_2196-61insTAGTC - IntronicInsertion - 19/19
3-142222284-A-G ATR c.5208T>C p.Tyr1736Tyr Synonymous 30/47 -
13-48947503-C-T RB1 c.1128-38C>T - IntronicSNV - 11/26
5-112178492-C-T APC c.7201C>T p.Leu2401Leu Synonymous 16/16 -
5-112178492-C-G APC c.7201C>G p.Leu2401Val Missense 16/16 -
1-204516025-A-G MDM4 c.903+20A>G - IntronicSNV - 10/10
2-242680366-A-G D2HGDH c.293-82A>G - IntronicSNV - 2/9
17-41245466-G-A BRCA1 c.2082C>T p.Ser694Ser Synonymous 10/23 -
9-87362039-A-G NTRK2 c.1296+2051A>G - IntronicSNV - 13/14
16-85667677-G-A GSE1 c.165G>A p.Ala55Ala Synonymous 2/16 -
9-87405751-A-T NTRK2 c.1397-19706A>T - IntronicSNV - 14/14
16-68771372-C-T CDH1 c.48+6C>T - IntronicSNV - 1/15
17-78081691-C-A GAA c.951C>A p.Ala317Ala Synonymous 5/20 -
8-133935615-C-T TG c.4561C>T p.Leu1521Leu Synonymous 22/48 -
17-78081691-C-G GAA c.951C>G p.Ala317Ala Synonymous 5/20 -
17-78081691-C-T GAA c.951C>T p.Ala317Ala Synonymous 5/20 -
17-7579801-G-C TP53 c.74+38C>G - IntronicSNV - 2/10
17-7579801-G-T TP53 c.74+38C>A - IntronicSNV - 2/10
1-120539331-C-A NOTCH2 c.751+289G>T - IntronicSNV - 4/33
1-120539331-C-T NOTCH2 c.751+289G>A - IntronicSNV - 4/33
17-7579801-G-A TP53 c.74+38C>T - IntronicSNV - 2/10
9-2073292-A-G SMARCA2 c.1827A>G p.Pro609Pro Synonymous 11/34 -
5-161119125-C-A GABRA6 c.1005C>A p.Ala335Ala Synonymous 8/9 -
5-161119125-C-G GABRA6 c.1005C>G p.Ala335Ala Synonymous 8/9 -
11-94225920-C-T MRE11 c.20+28G>A - IntronicSNV - 2/19
11-94225920-C-A MRE11 c.20+28G>T - IntronicSNV - 2/19
1-120463044-C-G NOTCH2 c.5311-24G>C - IntronicSNV - 29/33
9-98239147-A-G PTCH1 c.1504-8T>C - IntronicSNV - 10/23
7-140477756-C-G BRAF c.1517+35G>C - IntronicSNV - 12/17
6-135523786-G-A MYB c.1690-569G>A - IntronicSNV - 13/14
12-49434384-G-A KMT2D c.7169C>T p.Pro2390Leu Missense 31/54 -
17-41251931-G-C BRCA1 c.442-34C>G - IntronicSNV - 6/22
17-41251931-G-T BRCA1 c.442-34C>A - IntronicSNV - 6/22
14-95581961-G-A DICER1 c.1907+43C>T - IntronicSNV - 13/28
17-38788348-C-T SMARCE1 c.714+99G>A - IntronicSNV - 8/10
4-72622548-G-C GC c.915C>G p.Ala305Ala Synonymous 8/13 -
4-1803307-T-C FGFR3 c.616-40T>C - IntronicSNV - 5/17
9-98209594-G-C PTCH1 c.3944C>G p.Pro1315Arg Missense 23/24 -
8-133906114-G-A TG c.2941G>A p.Ala981Thr Missense 11/48 -
5-149435759-G-A CSF1R c.2442+23C>T - IntronicSNV - 18/21
12-46285585-G-C ARID2 c.4945G>C p.Val1649Leu Missense 17/21 -
9-139396408-A-G NOTCH1 c.5473-43T>C - IntronicSNV - 29/33
6-157507670-G-A ARID1B c.3550+2101G>A - IntronicSNV - 13/19
1-110300504-A-C EPS8L3 c.833-19T>G - IntronicSNV - 9/18
1-110300504-A-G EPS8L3 c.833-19T>C - IntronicSNV - 9/18
3-47187075-C-G SETD2 c.71+18269G>C - IntronicSNV - 1/20
19-51323676-C-T KLK1 c.230G>A p.Arg77His Missense 3/5 -
11-108129657-A-T ATM c.2377-56A>T - IntronicSNV - 15/62
11-108129657-A-G ATM c.2377-56A>G - IntronicSNV - 15/62
1-43805240-A-G MPL c.690A>G p.Glu230Glu Synonymous 4/12 -
9-87408950-C-T NTRK2 c.1397-16507C>T - IntronicSNV - 14/14
1-51435946-C-T CDKN2C c.1-95C>T - IntronicSNV - 1/2
22-30035021-G-A NF2 c.241-58G>A - IntronicSNV - 2/15
16-71607508-G-T TAT c.342C>A p.Gly114Gly Synonymous 4/12 -
16-71607508-G-A TAT c.342C>T p.Gly114Gly Synonymous 4/12 -