PMID: 32650224

Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.

Neoplasia (New York, N.Y.)
Q Yang, C Zhang, Y Ren, H Yi, T Luo, F Xing, X Bai, L Cui, L Zhu, J Ouyang, P Jiang, W Fan, J Qiu, F Wang, X Xing, Z Zhang, X Zhang, R Zhang
2020-07-07

641 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-152084455-CAGC-C TCHH c.1237_1239delCTG p.Leu413delLeu InFrameDeletion 3/3 -
16-2239089-C-T CASKIN1 c.556G>A p.Asp186Asn Missense 6/20 -
20-60909062-G-A LAMA5 c.2773C>T p.Pro925Ser Missense 23/80 -
1-152187606-G-A HRNR c.6499C>T p.Arg2167Cys Missense 3/3 -
7-100681363-C-A MUC17 c.6666C>A p.Phe2222Leu Missense 3/13 -
1-152283598-T-C FLG c.3764A>G p.Glu1255Gly Missense 3/3 -
14-105412500-G-C AHNAK2 c.9288C>G p.Asp3096Glu Missense 7/7 -
14-105412500-G-T AHNAK2 c.9288C>A p.Asp3096Glu Missense 7/7 -
1-152284081-G-T FLG c.3281C>A p.Pro1094His Missense 3/3 -
3-48698864-G-A CELSR3 c.1204C>T p.Arg402Cys Missense 1/35 -
14-65260543-C-A SPTB c.1838G>T p.Ser613Ile Missense 13/35 -
1-27056349-C-T ARID1A c.1345C>T p.Gln449* Nonsense 2/20 -
1-27099303-GC-G ARID1A c.3540delC p.Ser1180Argfs*26 Frameshift 14/20 -
14-105413318-C-G AHNAK2 c.8470G>C p.Gly2824Arg Missense 7/7 -
1-152282178-C-A FLG c.5184G>T p.Glu1728Asp Missense 3/3 -
1-152282178-C-G FLG c.5184G>C p.Glu1728Asp Missense 3/3 -
16-2230814-G-A CASKIN1 c.2555C>T p.Ala852Val Missense 18/20 -
14-105416048-A-G AHNAK2 c.5740T>C p.Phe1914Leu Missense 7/7 -
7-100679783-A-C MUC17 c.5086A>C p.Thr1696Pro Missense 3/13 -
7-100683099-C-G MUC17 c.8402C>G p.Pro2801Arg Missense 3/13 -
1-152084549-G-C TCHH c.1144C>G p.Gln382Glu Missense 3/3 -
17-38978372-G-A KRT10 c.466C>T p.Arg156Cys Missense 1/8 -
3-178952077-T-A PIK3CA c.3132T>A p.Asn1044Lys Missense 21/21 -
7-100682967-T-C MUC17 c.8270T>C p.Leu2757Pro Missense 3/13 -
3-195508955-C-T MUC4 c.9496G>A p.Ala3166Thr Missense 2/25 -
1-228476577-C-G OBSCN c.10327C>G p.Leu3443Val Missense 38/81 -
6-7579931-G-A DSP c.3508G>A p.Glu1170Lys Missense 23/24 -
20-60899525-C-T LAMA5 c.5615G>A p.Arg1872His Missense 42/80 -
3-48677272-GATG-G CELSR3 c.9745_9747delATC p.Ile3249delIle InFrameDeletion 34/35 -
12-52911474-C-T KRT5 c.992G>A p.Arg331His Missense 5/9 -
7-100681361-T-C MUC17 c.6664T>C p.Phe2222Leu Missense 3/13 -
7-100683008-G-C MUC17 c.8311G>C p.Val2771Leu Missense 3/13 -
1-152083782-CCTC-C TCHH c.1912_1914delGAG p.Glu638delGlu InFrameDeletion 3/3 -
1-152281746-GTTT-G FLG c.5614_5616delAAA p.Lys1872delLys InFrameDeletion 3/3 -
1-152282507-A-G FLG c.4855T>C p.Tyr1619His Missense 3/3 -
7-100679919-A-C MUC17 c.5222A>C p.Asn1741Thr Missense 3/13 -
1-152191565-G-A HRNR c.2540C>T p.Thr847Met Missense 3/3 -
1-152280731-G-C FLG c.6631C>G p.His2211Asp Missense 3/3 -
3-41275239-C-T CTNNB1 c.1405C>T p.Arg469Cys Missense 9/16 -
1-152280568-C-A FLG c.6794G>T p.Arg2265Ile Missense 3/3 -
6-7580658-T-A DSP c.4235T>A p.Leu1412Gln Missense 23/24 -
3-41275648-C-T CTNNB1 c.1543C>T p.Arg515* Nonsense 10/16 -
19-41060136-C-A SPTBN4 c.4758C>A p.Ser1586Arg Missense 23/36 -
1-158581062-C-A SPTA1 c.7252G>T p.Gly2418Cys Missense 52/52 -
1-152191050-C-G HRNR c.3055G>C p.Gly1019Arg Missense 3/3 -
1-152328546-C-G FLG2 c.1716G>C p.Leu572Phe Missense 3/3 -
7-100679059-G-T MUC17 c.4362G>T p.Lys1454Asn Missense 3/13 -
1-152191050-C-T HRNR c.3055G>A p.Gly1019Arg Missense 3/3 -
4-77677730-C-T SHROOM3 c.4838C>T p.Thr1613Ile Missense 8/11 -
14-105412720-G-T AHNAK2 c.9068C>A p.Thr3023Asn Missense 7/7 -
1-228476583-G-A OBSCN c.10333G>A p.Val3445Met Missense 38/81 -
1-228528833-G-A OBSCN c.17735G>A p.Arg5912His Missense 73/81 -
7-100680105-T-C MUC17 c.5408T>C p.Leu1803Pro Missense 3/13 -
1-27059260-TCAG-T ARID1A c.1897_1899delCAG p.Gln633delGln InFrameDeletion 4/20 -
19-40993723-C-T SPTBN4 c.289C>T p.Arg97Trp Missense 3/36 -
19-41060134-A-C SPTBN4 c.4756A>C p.Ser1586Arg Missense 23/36 -
3-48696988-C-T CELSR3 c.3080G>A p.Arg1027Gln Missense 1/35 -
14-105413791-G-A AHNAK2 c.7997C>T p.Ser2666Phe Missense 7/7 -
1-152193378-C-T HRNR c.727G>A p.Gly243Ser Missense 3/3 -
14-105413372-T-C AHNAK2 c.8416A>G p.Met2806Val Missense 7/7 -
7-100675451-C-G MUC17 c.754C>G p.Gln252Glu Missense 3/13 -
3-195506386-G-A MUC4 c.12065C>T p.Pro4022Leu Missense 2/25 -
17-37863287-G-A ERBB2 c.118G>A p.Glu40Lys Missense 2/27 -
1-152325292-C-G FLG2 c.4970G>C p.Ser1657Thr Missense 3/3 -
4-88535567-CAGT-C DSPP c.1753_1755delAGT p.Ser585delSer InFrameDeletion 5/5 -
1-152285686-T-C FLG c.1676A>G p.His559Arg Missense 3/3 -
3-195506555-C-T MUC4 c.11896G>A p.Ala3966Thr Missense 2/25 -
1-152284319-C-G FLG c.3043G>C p.Gly1015Arg Missense 3/3 -
14-105414686-C-T AHNAK2 c.7102G>A p.Val2368Ile Missense 7/7 -
14-105418918-C-A AHNAK2 c.2870G>T p.Gly957Val Missense 7/7 -
14-65216035-T-TA SPTB c.6975_6976insT p.Lys2326*fs*1 Nonsense 35/35 -
1-152331330-C-T FLG2 c.31G>A p.Val11Ile Missense 2/3 -
1-152191862-A-G HRNR c.2243T>C p.Leu748Ser Missense 3/3 -
11-62303477-C-T AHNAK c.94G>A p.Val32Ile Missense 3/6 -
14-65216396-ACTC-A SPTB c.6793_6795delGAG p.Glu2265delGlu InFrameDeletion 34/35 -
19-40998887-T-TT SPTBN4 c.513dupT p.Glu172*fs*1 Nonsense 5/36 -
1-152282753-G-A FLG c.4609C>T p.Pro1537Ser Missense 3/3 -
1-228463526-CCTG-C OBSCN c.6019_6021delCTG p.Leu2007delLeu InFrameDeletion 21/81 -
17-38975261-G-A KRT10 c.1526C>T p.Ser509Phe Missense 7/8 -
1-152325820-T-G FLG2 c.4442A>C p.Tyr1481Ser Missense 3/3 -
1-152128065-C-G RPTN c.1510G>C p.Gly504Arg Missense 3/3 -
14-105409546-T-G AHNAK2 c.12242A>C p.Lys4081Thr Missense 7/7 -
1-152128065-C-T RPTN c.1510G>A p.Gly504Arg Missense 3/3 -
14-105412801-G-C AHNAK2 c.8987C>G p.Ser2996Cys Missense 7/7 -
7-100676667-A-G MUC17 c.1970A>G p.Asn657Ser Missense 3/13 -
14-105413093-C-G AHNAK2 c.8695G>C p.Val2899Leu Missense 7/7 -
1-228506756-C-T OBSCN c.14303C>T p.Ser4768Leu Missense 54/81 -
3-195510267-ATGA-A MUC4 c.8187_8189delATC p.Ser2730delSer InFrameDeletion 2/25 -
1-152191019-G-T HRNR c.3086C>A p.Ser1029Tyr Missense 3/3 -
14-105419654-G-A AHNAK2 c.2134C>T p.Leu712Phe Missense 7/7 -
14-105410322-A-C AHNAK2 c.11466T>G p.Ile3822Met Missense 7/7 -
19-46021012-T-A VASP c.97T>A p.Phe33Ile Missense 2/13 -
1-27099121-G-GC ARID1A c.3537_3538insC - SpliceDonorInsertion 13/20 -
22-22221726-CGCC-C MAPK1 c.20_22delCGG p.Ala7delAla InFrameDeletion 1/9 -
1-228456294-C-T OBSCN c.4925C>T p.Ala1642Val Missense 17/81 -
1-27057982-C-CC ARID1A c.1690dupC p.Gln564Profs*59 Frameshift 3/20 -
1-27023904-G-A ARID1A c.1010G>A p.Trp337* Nonsense 1/20 -
1-152282672-G-C FLG c.4690C>G p.Pro1564Ala Missense 3/3 -
9-35403903-G-A UNC13B c.4649G>A p.Arg1550Gln Missense 39/39 -
1-152284791-G-T FLG c.2571C>A p.His857Gln Missense 3/3 -
1-27058029-T-G ARID1A c.1737T>G p.Tyr579* Nonsense 3/20 -
8-145001480-GCG-TGG PLEC c.3859_3861delCGCinsTGG p.Arg1287Trp Missense 29/33 -
14-105419180-A-G AHNAK2 c.2608T>C p.Ser870Pro Missense 7/7 -
3-195513530-A-C MUC4 c.4921T>G p.Leu1641Val Missense 2/25 -
14-105414938-C-T AHNAK2 c.6850G>A p.Val2284Met Missense 7/7 -
17-35548163-TGGC-T ACACA c.4357_4359delGCC p.Ala1453delAla InFrameDeletion 38/56 -
1-158592867-C-T SPTA1 c.6026G>A p.Arg2009His Missense 43/52 -
7-100679782-A-G MUC17 c.5085A>G p.Ile1695Met Missense 3/13 -
14-105413066-T-C AHNAK2 c.8722A>G p.Lys2908Glu Missense 7/7 -
1-228509289-G-A OBSCN c.14747G>A p.Arg4916Gln Missense 55/81 -
X-75648374-G-C MAGEE1 c.51G>C p.Lys17Asn Missense 1/1 -
20-62195277-G-A HELZ2 c.4898C>T p.Pro1633Leu Missense 9/20 -
8-145049366-G-A PLEC c.172C>T p.Arg58Trp Missense 2/33 -
3-178936067-C-T PIK3CA c.1609C>T p.Arg537* Nonsense 10/21 -
1-152327811-CGGA-C FLG2 c.2449_2451delTCC p.Ser817delSer InFrameDeletion 3/3 -
3-195506411-C-T MUC4 c.12040G>A p.Ala4014Thr Missense 2/25 -
1-228520965-T-A OBSCN c.15797T>A p.Leu5266Gln Missense 58/81 -
1-152284791-G-C FLG c.2571C>G p.His857Gln Missense 3/3 -
1-152328326-C-T FLG2 c.1936G>A p.Gly646Arg Missense 3/3 -
1-152325817-T-C FLG2 c.4445A>G p.His1482Arg Missense 3/3 -
14-105408172-A-C AHNAK2 c.13616T>G p.Val4539Gly Missense 7/7 -
1-228468069-G-A OBSCN c.7853G>A p.Ser2618Asn Missense 29/81 -
1-152285252-C-G FLG c.2110G>C p.Ala704Pro Missense 3/3 -
X-75648374-G-T MAGEE1 c.51G>T p.Lys17Asn Missense 1/1 -
20-62191383-G-A HELZ2 c.7723C>T p.Arg2575Trp Missense 19/20 -
3-48689423-C-A CELSR3 c.5810G>T p.Arg1937Leu Missense 12/35 -
20-62203578-G-C HELZ2 c.161C>G p.Ala54Gly Missense 2/20 -
8-133900303-CATG-C TG c.2251_2253delATG p.Met751delMet InFrameDeletion 10/48 -
14-105416839-G-T AHNAK2 c.4949C>A p.Ala1650Glu Missense 7/7 -
3-178936095-A-T PIK3CA c.1637A>T p.Gln546Leu Missense 10/21 -
1-152325818-G-C FLG2 c.4444C>G p.His1482Asp Missense 3/3 -
4-72620817-A-AA GC c.1044dupT p.Glu349*fs*1 Nonsense 9/13 -
3-195508937-T-A MUC4 c.9514A>T p.Thr3172Ser Missense 2/25 -
4-88535836-GCAG-G DSPP c.2022_2024delCAG p.Ser675delSer InFrameDeletion 5/5 -
19-968465-ATCA-A ARID3A c.1556_1558delTCA p.Ile519delIle InFrameDeletion 8/9 -
19-52716301-C-T PPP2R1A c.745C>T p.Arg249Cys Missense 6/15 -
4-88536737-G-A DSPP c.2923G>A p.Asp975Asn Missense 5/5 -
2-141625794-C-T LRP1B c.4208G>A p.Arg1403His Missense 26/91 -
3-48681704-C-T CELSR3 c.8110G>A p.Ala2704Thr Missense 27/35 -
7-100676360-C-G MUC17 c.1663C>G p.Pro555Ala Missense 3/13 -
3-48685349-G-A CELSR3 c.7054C>T p.Arg2352* Nonsense 20/35 -
1-152324093-G-C FLG2 c.6169C>G p.Gln2057Glu Missense 3/3 -
3-178936083-A-G PIK3CA c.1625A>G p.Glu542Gly Missense 10/21 -
1-152280430-G-C FLG c.6932C>G p.Ser2311Cys Missense 3/3 -
19-52724341-A-AT PPP2R1A c.1473_1474insT p.Asp492*fs*1 Nonsense 12/15 -
14-105418481-C-T AHNAK2 c.3307G>A p.Val1103Ile Missense 7/7 -
14-105418508-C-A AHNAK2 c.3280G>T p.Val1094Leu Missense 7/7 -
1-228463548-C-A OBSCN c.6041C>A p.Pro2014Gln Missense 21/81 -
11-66469103-GGGG-G SPTBN2 c.2769_2771delCCC p.Pro924delPro InFrameDeletion 15/37 -
4-77700047-G-A SHROOM3 c.5708G>A p.Arg1903Gln Missense 11/11 -
5-79950702-CAGC-C MSH3 c.156_158delAGC p.Ala62delAla InFrameDeletion 1/24 -
1-228400030-C-A OBSCN c.546C>A p.Tyr182* Nonsense 2/81 -
1-152284450-C-T FLG c.2912G>A p.Arg971His Missense 3/3 -
1-152188862-G-A HRNR c.5243C>T p.Ser1748Leu Missense 3/3 -
1-158604407-C-G SPTA1 c.5491G>C p.Glu1831Gln Missense 39/52 -
1-152187879-T-C HRNR c.6226A>G p.Arg2076Gly Missense 3/3 -
1-228526694-G-A OBSCN c.17225G>A p.Arg5742His Missense 69/81 -
5-80088643-C-A MSH3 c.2635C>A p.Pro879Thr Missense 19/24 -
X-75650068-G-T MAGEE1 c.1745G>T p.Gly582Val Missense 1/1 -
1-152280002-T-C FLG c.7360A>G p.Thr2454Ala Missense 3/3 -
7-100679388-A-C MUC17 c.4691A>C p.Gln1564Pro Missense 3/13 -
9-35403978-G-A UNC13B c.4724G>A p.Arg1575Gln Missense 39/39 -
1-152328778-C-T FLG2 c.1484G>A p.Cys495Tyr Missense 3/3 -
7-100679059-G-C MUC17 c.4362G>C p.Lys1454Asn Missense 3/13 -
1-27099121-G-GT ARID1A c.3537_3538insT - SpliceDonorInsertion 13/20 -
3-195510896-G-A MUC4 c.7555C>T p.Pro2519Ser Missense 2/25 -
3-195510780-G-T MUC4 c.7671C>A p.His2557Gln Missense 2/25 -
14-105407965-G-A AHNAK2 c.13823C>T p.Ala4608Val Missense 7/7 -
1-27099947-C-T ARID1A c.3826C>T p.Arg1276* Nonsense 15/20 -
19-41060136-C-G SPTBN4 c.4758C>G p.Ser1586Arg Missense 23/36 -
X-75648993-G-A MAGEE1 c.670G>A p.Val224Met Missense 1/1 -
17-74019680-C-T EVPL c.254G>A p.Arg85His Missense 3/22 -
10-61829483-C-T ANK3 c.11156G>A p.Arg3719His Missense 37/44 -
14-105412294-A-G AHNAK2 c.9494T>C p.Leu3165Ser Missense 7/7 -
19-52719100-A-AT PPP2R1A c.876_877insT p.Asp293*fs*1 Nonsense 7/15 -
4-77675890-G-GT SHROOM3 c.4254_4255insT p.Arg1419*fs*1 Nonsense 7/11 -
1-228432152-G-C OBSCN c.3361G>C p.Gly1121Arg Missense 11/81 -
1-152279527-T-C FLG c.7835A>G p.Asp2612Gly Missense 3/3 -
7-100677582-C-G MUC17 c.2885C>G p.Thr962Ser Missense 3/13 -
14-105408026-C-CA AHNAK2 c.13761_13762insT p.Glu4588*fs*1 Nonsense 7/7 -
14-105413266-A-G AHNAK2 c.8522T>C p.Leu2841Pro Missense 7/7 -
7-100683102-C-T MUC17 c.8405C>T p.Thr2802Ile Missense 3/13 -
1-152187194-C-A HRNR c.6911G>T p.Arg2304Leu Missense 3/3 -
14-105412633-G-A AHNAK2 c.9155C>T p.Pro3052Leu Missense 7/7 -
1-152327579-T-A FLG2 c.2683A>T p.Ser895Cys Missense 3/3 -
3-195511208-T-G MUC4 c.7243A>C p.Thr2415Pro Missense 2/25 -
1-152326334-T-TA FLG2 c.3927_3928insT p.Arg1310*fs*1 Nonsense 3/3 -
7-100683800-G-A MUC17 c.9103G>A p.Gly3035Ser Missense 3/13 -
14-105407327-G-A AHNAK2 c.14461C>T p.Pro4821Ser Missense 7/7 -
12-52908794-C-G KRT5 c.1705G>C p.Gly569Arg Missense 9/9 -
3-195506887-A-G MUC4 c.11564T>C p.Met3855Thr Missense 2/25 -
14-105413284-G-A AHNAK2 c.8504C>T p.Ser2835Leu Missense 7/7 -
14-105415160-C-G AHNAK2 c.6628G>C p.Val2210Leu Missense 7/7 -
7-100684875-G-C MUC17 c.10178G>C p.Ser3393Thr Missense 3/13 -
14-105415160-C-A AHNAK2 c.6628G>T p.Val2210Leu Missense 7/7 -
2-141459361-G-A LRP1B c.6356C>T p.Thr2119Met Missense 40/91 -
4-77662516-G-A SHROOM3 c.3190G>A p.Asp1064Asn Missense 5/11 -
3-195515915-C-CA MUC4 c.2535_2536insT p.Glu846*fs*1 Nonsense 2/25 -
1-152276490-C-G FLG c.10872G>C p.Glu3624Asp Missense 3/3 -
1-27100181-CC-C ARID1A c.3977delC p.Pro1326Argfs*69 Frameshift 16/20 -
11-62259245-GCTG-G AHNAK c.403_405delAGC p.Ser135delSer InFrameDeletion 5/6 -
1-152276490-C-A FLG c.10872G>T p.Glu3624Asp Missense 3/3 -
6-7585534-T-C DSP c.8039T>C p.Ile2680Thr Missense 24/24 -
1-152187399-GCAG-G HRNR c.6706_6708delGCT p.Ala2236delAla InFrameDeletion 3/3 -
7-100681985-A-T MUC17 c.7288A>T p.Thr2430Ser Missense 3/13 -
1-228400030-C-G OBSCN c.546C>G p.Tyr182* Nonsense 2/81 -
14-65260495-C-T SPTB c.1886G>A p.Arg629Gln Missense 13/35 -
1-152084066-C-T TCHH c.1627G>A p.Glu543Lys Missense 3/3 -
1-27057788-C-T ARID1A c.1496C>T p.Ser499Leu Missense 3/20 -
1-228469825-C-T OBSCN c.8389C>T p.Arg2797Trp Missense 31/81 -
1-27094340-T-TT ARID1A c.3048dupT p.Glu1017*fs*1 Nonsense 11/20 -
12-52913802-CGCC-C KRT5 c.280_282delGGC p.Gly94delGly InFrameDeletion 1/9 -
19-46025639-ACCA-A VASP c.520_522delCCA p.Pro174delPro InFrameDeletion 6/13 -
1-152276045-A-G FLG c.11317T>C p.Tyr3773His Missense 3/3 -
1-152324146-T-G FLG2 c.6116A>C p.His2039Pro Missense 3/3 -
10-61828744-CAGT-C ANK3 c.11893_11895delACT p.Thr3965delThr InFrameDeletion 37/44 -
9-35386264-CGAC-C UNC13B c.2821_2823delGAC p.Asp941delAsp InFrameDeletion 23/39 -
1-152283590-A-C FLG c.3772T>G p.Ser1258Ala Missense 3/3 -
16-2231447-G-A CASKIN1 c.1922C>T p.Pro641Leu Missense 18/20 -
7-100684502-A-G MUC17 c.9805A>G p.Thr3269Ala Missense 3/13 -
1-27099958-T-G ARID1A c.3837T>G p.Tyr1279* Nonsense 15/20 -
1-27099958-T-A ARID1A c.3837T>A p.Tyr1279* Nonsense 15/20 -
17-74005073-G-T EVPL c.4213C>A p.Leu1405Ile Missense 22/22 -
19-41062992-G-A SPTBN4 c.5353G>A p.Ala1785Thr Missense 26/36 -
1-158605725-G-A SPTA1 c.5410C>T p.Leu1804Phe Missense 38/52 -
7-100685327-T-A MUC17 c.10630T>A p.Ser3544Thr Missense 3/13 -
17-37646866-G-A CDK12 c.1988G>A p.Arg663His Missense 3/14 -
14-105412913-G-A AHNAK2 c.8875C>T p.Arg2959Trp Missense 7/7 -
1-152328546-C-A FLG2 c.1716G>T p.Leu572Phe Missense 3/3 -
1-152328326-C-G FLG2 c.1936G>C p.Gly646Arg Missense 3/3 -
1-27023905-G-A ARID1A c.1011G>A p.Trp337* Nonsense 1/20 -
3-195515435-C-T MUC4 c.3016G>A p.Ala1006Thr Missense 2/25 -
14-65240080-G-A SPTB c.5036C>T p.Ala1679Val Missense 24/35 -
1-228462332-G-A OBSCN c.5743G>A p.Glu1915Lys Missense 20/81 -
3-75790800-C-T ZNF717 c.145G>A p.Asp49Asn Missense 3/5 -
19-41078058-GG-G SPTBN4 c.7453delG p.Ala2485Leufs*31 Frameshift 34/36 -
1-152084480-TGCT-T TCHH c.1217_1219delAGC p.Gln406delGln InFrameDeletion 3/3 -
14-105405284-G-A AHNAK2 c.16504C>T p.Arg5502Trp Missense 7/7 -
14-105408638-G-C AHNAK2 c.13150C>G p.Leu4384Val Missense 7/7 -
1-152189067-C-G HRNR c.5038G>C p.Gly1680Arg Missense 3/3 -
17-74018494-C-T EVPL c.606G>A p.Pro202Pro Synonymous 5/22 -
1-152189067-C-T HRNR c.5038G>A p.Gly1680Arg Missense 3/3 -
7-100682922-G-C MUC17 c.8225G>C p.Arg2742Pro Missense 3/13 -
19-52715982-C-T PPP2R1A c.547C>T p.Arg183Trp Missense 5/15 -
20-62194375-G-A HELZ2 c.5800C>T p.Arg1934Trp Missense 9/20 -
17-74018494-C-A EVPL c.606G>T p.Pro202Pro Synonymous 5/22 -
17-74018494-C-G EVPL c.606G>C p.Pro202Pro Synonymous 5/22 -
1-152278643-A-T FLG c.8719T>A p.Trp2907Arg Missense 3/3 -
1-152278643-A-G FLG c.8719T>C p.Trp2907Arg Missense 3/3 -
3-178951955-A-G PIK3CA c.3010A>G p.Met1004Val Missense 21/21 -
14-105416455-A-G AHNAK2 c.5333T>C p.Met1778Thr Missense 7/7 -
14-105413093-C-A AHNAK2 c.8695G>T p.Val2899Leu Missense 7/7 -
2-141267574-C-A LRP1B c.8321G>T p.Cys2774Phe Missense 52/91 -
7-100681986-C-G MUC17 c.7289C>G p.Thr2430Ser Missense 3/13 -
1-228464942-G-A OBSCN c.6682G>A p.Glu2228Lys Missense 24/81 -
4-72634117-CACT-C GC c.160_162delAGT p.Ser54delSer InFrameDeletion 3/13 -
14-105411448-C-T AHNAK2 c.10340G>A p.Arg3447Lys Missense 7/7 -
17-74005072-A-C EVPL c.4214T>G p.Leu1405Arg Missense 22/22 -
14-105414343-C-T AHNAK2 c.7445G>A p.Arg2482Lys Missense 7/7 -
1-152326057-C-G FLG2 c.4205G>C p.Gly1402Ala Missense 3/3 -
20-62197545-G-T HELZ2 c.2630C>A p.Thr877Asn Missense 9/20 -
17-37884039-C-CT ERBB2 c.3510_3511insT p.Lys1171*fs*1 Nonsense 27/27 -
7-100680353-A-T MUC17 c.5656A>T p.Thr1886Ser Missense 3/13 -
1-158606445-C-T SPTA1 c.5296G>A p.Glu1766Lys Missense 37/52 -
1-153233513-G-A LOR c.88G>A p.Gly30Ser Missense 2/2 -
1-152327408-T-C FLG2 c.2854A>G p.Arg952Gly Missense 3/3 -
1-152326978-T-C FLG2 c.3284A>G p.Asn1095Ser Missense 3/3 -
19-52715983-G-T PPP2R1A c.548G>T p.Arg183Leu Missense 5/15 -
1-152326058-C-A FLG2 c.4204G>T p.Gly1402Cys Missense 3/3 -
1-228463635-G-A OBSCN c.6128G>A p.Arg2043His Missense 21/81 -
12-52913626-G-A KRT5 c.455C>T p.Pro152Leu Missense 1/9 -
3-178952013-G-A PIK3CA c.3068G>A p.Arg1023Gln Missense 21/21 -
2-141625782-G-T LRP1B c.4220C>A p.Ala1407Asp Missense 26/91 -
4-77476849-CAGC-C SHROOM3 c.256_258delAGC p.Ser87delSer InFrameDeletion 2/11 -
14-105418818-G-T AHNAK2 c.2970C>A p.Asp990Glu Missense 7/7 -
19-41062987-G-A SPTBN4 c.5348G>A p.Arg1783Gln Missense 26/36 -
14-105418818-G-C AHNAK2 c.2970C>G p.Asp990Glu Missense 7/7 -
11-66461627-C-T SPTBN2 c.4486G>A p.Asp1496Asn Missense 21/37 -
1-152192259-T-C HRNR c.1846A>G p.Thr616Ala Missense 3/3 -
3-195516156-TGTC-T MUC4 c.2293_2295delGAC p.Asp765delAsp InFrameDeletion 2/25 -
4-77662468-C-T SHROOM3 c.3142C>T p.Arg1048Cys Missense 5/11 -
1-228433270-G-A OBSCN c.3638G>A p.Arg1213His Missense 12/81 -
3-195506438-T-C MUC4 c.12013A>G p.Ser4005Gly Missense 2/25 -
7-100680017-A-G MUC17 c.5320A>G p.Ile1774Val Missense 3/13 -
1-152187048-C-T HRNR c.7057G>A p.Gly2353Ser Missense 3/3 -
1-27023818-C-A ARID1A c.924C>A p.Tyr308* Nonsense 1/20 -
7-100683644-G-A MUC17 c.8947G>A p.Gly2983Ser Missense 3/13 -
20-60909672-G-A LAMA5 c.2488C>T p.Arg830Trp Missense 21/80 -
3-195512117-C-G MUC4 c.6334G>C p.Ala2112Pro Missense 2/25 -
14-105419549-G-T AHNAK2 c.2239C>A p.Pro747Thr Missense 7/7 -
6-56485366-G-A DST c.3466C>T p.Arg1156* Nonsense 23/24 -
12-25398285-C-A KRAS c.34G>T p.Gly12Cys Missense 2/6 -
19-52716323-C-T PPP2R1A c.767C>T p.Ser256Phe Missense 6/15 -
1-152084296-CT-CA TCHH c.1396_1397delAGinsCA p.Arg466Gln Missense 3/3 -
1-27023818-C-G ARID1A c.924C>G p.Tyr308* Nonsense 1/20 -
3-195513010-G-A MUC4 c.5441C>T p.Pro1814Leu Missense 2/25 -
11-66461717-C-T SPTBN2 c.4396G>A p.Val1466Met Missense 21/37 -
1-152283256-C-G FLG c.4106G>C p.Arg1369Thr Missense 3/3 -
1-152324114-C-T FLG2 c.6148G>A p.Ala2050Thr Missense 3/3 -
1-228464337-C-T OBSCN c.6407C>T p.Ser2136Leu Missense 22/81 -
17-38975232-T-C KRT10 c.1555A>G p.Ser519Gly Missense 7/8 -
1-152083777-T-G TCHH c.1916A>C p.Gln639Pro Missense 3/3 -
14-105408107-G-T AHNAK2 c.13681C>A p.Leu4561Ile Missense 7/7 -
20-60909671-C-T LAMA5 c.2489G>A p.Arg830Gln Missense 21/80 -
1-152084466-GC-AA TCHH c.1226_1227delGCinsAA p.Arg409Gln Missense 3/3 -
7-100676109-A-C MUC17 c.1412A>C p.Asn471Thr Missense 3/13 -
9-35403873-G-A UNC13B c.4619G>A p.Gly1540Asp Missense 39/39 -
4-88536089-CAGT-C DSPP c.2275_2277delAGT p.Ser759delSer InFrameDeletion 5/5 -
14-105413516-C-G AHNAK2 c.8272G>C p.Val2758Leu Missense 7/7 -
14-105413516-C-A AHNAK2 c.8272G>T p.Val2758Leu Missense 7/7 -
12-53070208-G-T KRT1 c.1326C>A p.Asn442Lys Missense 7/9 -
12-53070208-G-C KRT1 c.1326C>G p.Asn442Lys Missense 7/9 -
14-105419610-C-A AHNAK2 c.2178G>T p.Gln726His Missense 7/7 -
3-195515449-A-G MUC4 c.3002T>C p.Val1001Ala Missense 2/25 -
7-100682552-A-G MUC17 c.7855A>G p.Lys2619Glu Missense 3/13 -
14-105419610-C-G AHNAK2 c.2178G>C p.Gln726His Missense 7/7 -
6-7576632-A-AT DSP c.2736_2737insT p.Glu913*fs*1 Nonsense 19/24 -
17-38975298-C-A KRT10 c.1489G>T p.Gly497Cys Missense 7/8 -
1-152191783-G-C HRNR c.2322C>G p.His774Gln Missense 3/3 -
2-141625368-TGTT-T LRP1B c.4370_4372delCAA p.Thr1457delThr InFrameDeletion 27/91 -
10-61832367-C-T ANK3 c.8272G>A p.Val2758Ile Missense 37/44 -
1-152186877-C-G HRNR c.7228G>C p.Gly2410Arg Missense 3/3 -
3-195508586-A-C MUC4 c.9865T>G p.Ser3289Ala Missense 2/25 -
1-152186877-C-T HRNR c.7228G>A p.Gly2410Arg Missense 3/3 -
14-105412466-C-T AHNAK2 c.9322G>A p.Gly3108Ser Missense 7/7 -
14-105416254-G-A AHNAK2 c.5534C>T p.Ser1845Leu Missense 7/7 -
4-77678005-C-T SHROOM3 c.5113C>T p.Arg1705* Nonsense 8/11 -
1-152280803-T-TA FLG c.6558_6559insT p.Arg2187*fs*1 Nonsense 3/3 -
6-7558461-G-A DSP c.386G>A p.Arg129Gln Missense 3/24 -
1-158617396-G-A SPTA1 c.3829C>T p.Arg1277Cys Missense 27/52 -
16-69973817-GGAG-G WWP2 c.2587_2589delGAG p.Glu863delGlu InFrameDeletion 25/25 -
1-152277137-G-C FLG c.10225C>G p.Arg3409Gly Missense 3/3 -
1-153233828-CGGC-C LOR c.403_405delGGC p.Gly135delGly InFrameDeletion 2/2 -
19-52716323-C-A PPP2R1A c.767C>A p.Ser256Tyr Missense 6/15 -
14-105412598-A-C AHNAK2 c.9190T>G p.Leu3064Val Missense 7/7 -
8-144999603-GCG-TGG PLEC c.4573_4575delCGCinsTGG p.Arg1525Trp Missense 32/33 -
1-53925412-C-T DMRTB1 c.286C>T p.Arg96Cys Missense 1/4 -
1-152282147-G-T FLG c.5215C>A p.Gln1739Lys Missense 3/3 -
5-80064770-G-A MSH3 c.2201G>A p.Arg734Gln Missense 15/24 -
19-46021211-C-T VASP c.202C>T p.Arg68Trp Missense 3/13 -
3-178936082-G-C PIK3CA c.1624G>C p.Glu542Gln Missense 10/21 -
17-45235598-G-T CDC27 c.449C>A p.Ser150Tyr Missense 5/19 -
16-2231127-C-T CASKIN1 c.2242G>A p.Gly748Ser Missense 18/20 -
6-56480838-G-A DST c.7427C>T p.Ala2476Val Missense 24/24 -
7-100679169-C-A MUC17 c.4472C>A p.Ala1491Glu Missense 3/13 -
1-152278594-A-T FLG c.8768T>A p.Leu2923Gln Missense 3/3 -
14-65263370-G-A SPTB c.1246C>T p.Arg416Trp Missense 10/35 -
3-178919287-G-T PIK3CA c.772G>T p.Asp258Tyr Missense 4/21 -
19-40978640-G-A SPTBN4 c.112G>A p.Ala38Thr Missense 2/36 -
9-35375192-A-AT UNC13B c.1362_1363insT p.Glu455*fs*1 Nonsense 13/39 -
7-100677995-A-G MUC17 c.3298A>G p.Ser1100Gly Missense 3/13 -
14-65251050-C-T SPTB c.3917G>A p.Arg1306Gln Missense 18/35 -
6-56500411-CTAG-C DST c.1549_1551delCTA p.Leu517delLeu InFrameDeletion 10/24 -
7-100679633-C-T MUC17 c.4936C>T p.Pro1646Ser Missense 3/13 -
1-27100369-A-G ARID1A c.4081A>G p.Met1361Val Missense 17/20 -
1-27058029-T-A ARID1A c.1737T>A p.Tyr579* Nonsense 3/20 -
17-74003794-T-C EVPL c.5492A>G p.Tyr1831Cys Missense 22/22 -
1-152284318-C-T FLG c.3044G>A p.Gly1015Asp Missense 3/3 -
3-195510196-G-A MUC4 c.8255C>T p.Pro2752Leu Missense 2/25 -
17-4794986-G-A MINK1 c.1976G>A p.Arg659His Missense 16/31 -
1-152279642-G-C FLG c.7720C>G p.Gln2574Glu Missense 3/3 -
10-61831651-C-G ANK3 c.8988G>C p.Gln2996His Missense 37/44 -
14-105412100-G-C AHNAK2 c.9688C>G p.Gln3230Glu Missense 7/7 -
6-7585846-C-T DSP c.8351C>T p.Ser2784Phe Missense 24/24 -
19-46021013-T-G VASP c.98T>G p.Phe33Cys Missense 2/13 -
14-105420865-C-T AHNAK2 c.923G>A p.Arg308His Missense 7/7 -
16-2239305-G-C CASKIN1 c.420C>G p.Asn140Lys Missense 5/20 -
16-2239305-G-T CASKIN1 c.420C>A p.Asn140Lys Missense 5/20 -
1-228503679-A-G OBSCN c.13144A>G p.Thr4382Ala Missense 50/81 -
8-133883743-GACG-G TG c.425_427delACG p.Asp142delAsp InFrameDeletion 4/48 -
1-152323277-G-A FLG2 c.6985C>T p.Gln2329* Nonsense 3/3 -
1-27099121-G-GG ARID1A c.3537dupG - SpliceDonorInsertion 13/20 -
9-35382464-A-C UNC13B c.2519A>C p.Asn840Thr Missense 20/39 -
1-228509733-C-T OBSCN c.15191C>T p.Ala5064Val Missense 55/81 -
20-45801465-G-A EYA2 c.1148G>A p.Arg383His Missense 12/16 -
1-152277704-C-G FLG c.9658G>C p.Asp3220His Missense 3/3 -
1-152187900-C-T HRNR c.6205G>A p.Gly2069Ser Missense 3/3 -
1-152286344-C-G FLG c.1018G>C p.Asp340His Missense 3/3 -
4-77661952-C-T SHROOM3 c.2626C>T p.Arg876Cys Missense 5/11 -
14-105412871-C-T AHNAK2 c.8917G>A p.Ala2973Thr Missense 7/7 -
7-100682427-G-C MUC17 c.7730G>C p.Arg2577Thr Missense 3/13 -
20-62194713-A-T HELZ2 c.5462T>A p.Leu1821Gln Missense 9/20 -
11-66463903-T-TA SPTBN2 c.4122_4123insT p.Lys1375*fs*1 Nonsense 20/37 -
4-77661446-A-G SHROOM3 c.2120A>G p.Lys707Arg Missense 5/11 -
12-52908794-C-T KRT5 c.1705G>A p.Gly569Arg Missense 9/9 -
14-105413318-C-T AHNAK2 c.8470G>A p.Gly2824Arg Missense 7/7 -
4-88536980-A-G DSPP c.3166A>G p.Asn1056Asp Missense 5/5 -
1-228412271-C-T OBSCN c.2765C>T p.Thr922Met Missense 9/81 -
19-41019388-G-A SPTBN4 c.2692G>A p.Gly898Ser Missense 14/36 -
2-141680691-CGTT-C LRP1B c.3160_3162delAAC p.Asn1054delAsn InFrameDeletion 21/91 -
20-60885861-G-A LAMA5 c.10306C>T p.Arg3436Trp Missense 75/80 -
1-152129136-C-T RPTN c.439G>A p.Gly147Ser Missense 3/3 -
1-27099122-A-AA ARID1A c.3538dupA - SpliceDonorInsertion 13/20 -
7-100681211-G-C MUC17 c.6514G>C p.Val2172Leu Missense 3/13 -
3-178936091-G-A PIK3CA c.1633G>A p.Glu545Lys Missense 10/21 -
7-100681211-G-T MUC17 c.6514G>T p.Val2172Leu Missense 3/13 -
1-158592886-A-T SPTA1 c.6007T>A p.Ser2003Thr Missense 43/52 -
1-152327858-T-C FLG2 c.2404A>G p.Ser802Gly Missense 3/3 -
14-105414134-G-A AHNAK2 c.7654C>T p.Pro2552Ser Missense 7/7 -
8-133945816-AGGA-A TG c.4827_4829delGGA p.Glu1609delGlu InFrameDeletion 24/48 -
1-152324440-A-G FLG2 c.5822T>C p.Ile1941Thr Missense 3/3 -
12-53069304-CACC-C KRT1 c.1609_1611delGGT p.Gly537delGly InFrameDeletion 9/9 -
1-152191425-C-T HRNR c.2680G>A p.Gly894Ser Missense 3/3 -
22-22153396-G-A MAPK1 c.514C>T p.Arg172Cys Missense 4/9 -
1-152281113-G-C FLG c.6249C>G p.Ser2083Arg Missense 3/3 -
12-52910517-C-T KRT5 c.1343G>A p.Arg448Gln Missense 7/9 -
6-7571724-TGAC-T DSP c.1810_1812delGAC p.Asp604delAsp InFrameDeletion 14/24 -
1-27100203-AGCA-A ARID1A c.3999_4001delGCA p.Gln1334delGln InFrameDeletion 16/20 -
2-141457915-T-TA LRP1B c.6702_6703insT p.Arg2235*fs*1 Nonsense 41/91 -
3-195513605-G-A MUC4 c.4846C>T p.Pro1616Ser Missense 2/25 -
4-77677618-A-G SHROOM3 c.4726A>G p.Lys1576Glu Missense 8/11 -
7-100683993-C-A MUC17 c.9296C>A p.Thr3099Asn Missense 3/13 -
22-22160188-C-T MAPK1 c.443G>A p.Arg148His Missense 3/9 -
2-163005623-GGGA-G GCG c.64_66delTCC p.Ser22delSer InFrameDeletion 2/6 -
10-61829919-G-A ANK3 c.10720C>T p.Arg3574Cys Missense 37/44 -
8-133899518-GGAG-G TG c.1901_1903delGAG p.Gly634delGly InFrameDeletion 9/48 -
1-27099417-T-TT ARID1A c.3654dupT p.Asp1219*fs*1 Nonsense 14/20 -
1-152281635-C-G FLG c.5727G>C p.Arg1909Ser Missense 3/3 -
1-152281635-C-A FLG c.5727G>T p.Arg1909Ser Missense 3/3 -
3-178922315-CCAT-C PIK3CA c.1084_1086delCAT p.His362delHis InFrameDeletion 6/21 -
4-77662408-G-A SHROOM3 c.3082G>A p.Glu1028Lys Missense 5/11 -
14-105419313-C-A AHNAK2 c.2475G>T p.Glu825Asp Missense 7/7 -
14-105419313-C-G AHNAK2 c.2475G>C p.Glu825Asp Missense 7/7 -
1-152279952-A-C FLG c.7410T>G p.Ser2470Arg Missense 3/3 -
1-152191206-A-G HRNR c.2899T>C p.Ser967Pro Missense 3/3 -
1-152281115-T-G FLG c.6247A>C p.Ser2083Arg Missense 3/3 -
20-60908258-G-A LAMA5 c.3170C>T p.Ser1057Leu Missense 26/80 -
10-61965552-C-T ANK3 c.1291G>A p.Glu431Lys Missense 11/44 -
17-74005742-C-T EVPL c.3544G>A p.Val1182Met Missense 22/22 -
5-79950724-G-C MSH3 c.178G>C p.Ala60Pro Missense 1/24 -
9-35398227-A-T UNC13B c.3527A>T p.Asn1176Ile Missense 30/39 -
9-35396918-G-A UNC13B c.3269G>A p.Arg1090Gln Missense 27/39 -
3-195510780-G-C MUC4 c.7671C>G p.His2557Gln Missense 2/25 -
14-105415607-C-T AHNAK2 c.6181G>A p.Val2061Met Missense 7/7 -
22-22153395-C-T MAPK1 c.515G>A p.Arg172His Missense 4/9 -
1-152083846-C-A TCHH c.1847G>T p.Arg616Leu Missense 3/3 -
7-100683723-G-C MUC17 c.9026G>C p.Arg3009Thr Missense 3/13 -
20-62190630-C-T HELZ2 c.7919G>A p.Arg2640His Missense 20/20 -
14-105407525-G-A AHNAK2 c.14263C>T p.Pro4755Ser Missense 7/7 -
4-77676219-C-A SHROOM3 c.4583C>A p.Pro1528Gln Missense 7/11 -
4-77675528-C-T SHROOM3 c.3892C>T p.Arg1298Cys Missense 7/11 -
19-41018732-GCGG-G SPTBN4 c.2036_2038delCGG p.Ala679delAla InFrameDeletion 14/36 -
1-153233708-CGGC-C LOR c.283_285delGGC p.Gly95delGly InFrameDeletion 2/2 -
7-100683179-G-A MUC17 c.8482G>A p.Gly2828Ser Missense 3/13 -
1-152279952-A-T FLG c.7410T>A p.Ser2470Arg Missense 3/3 -
3-178936094-C-G PIK3CA c.1636C>G p.Gln546Glu Missense 10/21 -
7-100683474-T-G MUC17 c.8777T>G p.Val2926Gly Missense 3/13 -
1-152282506-T-A FLG c.4856A>T p.Tyr1619Phe Missense 3/3 -
12-25398281-C-T KRAS c.38G>A p.Gly13Asp Missense 2/6 -
6-56485116-C-T DST c.3716G>A p.Arg1239His Missense 23/24 -
1-152128057-GGCC-G RPTN c.1516_1518delGGC p.Gly506delGly InFrameDeletion 3/3 -
1-152186844-G-A HRNR c.7261C>T p.Arg2421Cys Missense 3/3 -
14-105419446-T-G AHNAK2 c.2342A>C p.Lys781Thr Missense 7/7 -
1-152281113-G-T FLG c.6249C>A p.Ser2083Arg Missense 3/3 -
7-100677793-G-C MUC17 c.3096G>C p.Met1032Ile Missense 3/13 -
7-100677793-G-A MUC17 c.3096G>A p.Met1032Ile Missense 3/13 -
7-100677793-G-T MUC17 c.3096G>T p.Met1032Ile Missense 3/13 -
1-152081230-A-C TCHH c.4463T>G p.Leu1488Arg Missense 3/3 -
19-52715970-C-A PPP2R1A c.535C>A p.Pro179Thr Missense 5/15 -
20-45801390-C-T EYA2 c.1073C>T p.Ser358Leu Missense 12/16 -
19-932572-C-T ARID3A c.523C>T p.Arg175* Nonsense 3/9 -
3-48697838-C-T CELSR3 c.2230G>A p.Val744Met Missense 1/35 -
1-228475581-G-A OBSCN c.9731G>A p.Arg3244Gln Missense 36/81 -
7-100680354-C-G MUC17 c.5657C>G p.Thr1886Ser Missense 3/13 -
16-2228904-G-A CASKIN1 c.4198C>T p.Arg1400Cys Missense 19/20 -
20-62191321-A-C HELZ2 c.7785T>G p.Asn2595Lys Missense 19/20 -
20-62191321-A-T HELZ2 c.7785T>A p.Asn2595Lys Missense 19/20 -
14-105410804-C-G AHNAK2 c.10984G>C p.Asp3662His Missense 7/7 -
1-228474615-G-A OBSCN c.9419G>A p.Arg3140Gln Missense 35/81 -
20-60892464-C-T LAMA5 c.7448G>A p.Arg2483His Missense 55/80 -
2-141625780-A-T LRP1B c.4222T>A p.Ser1408Thr Missense 26/91 -
14-65289745-C-A SPTB c.68G>T p.Trp23Leu Missense 1/35 -
1-152286281-C-T FLG c.1081G>A p.Ala361Thr Missense 3/3 -
17-35597393-CATT-C ACACA c.3007_3009delAAT p.Asn1003delAsn InFrameDeletion 24/56 -
3-178952007-A-G PIK3CA c.3062A>G p.Tyr1021Cys Missense 21/21 -
17-37687306-C-T CDK12 c.4210C>T p.Arg1404Cys Missense 14/14 -
1-152328547-A-G FLG2 c.1715T>C p.Leu572Ser Missense 3/3 -
3-178936082-G-A PIK3CA c.1624G>A p.Glu542Lys Missense 10/21 -
1-152328192-A-T FLG2 c.2070T>A p.His690Gln Missense 3/3 -
10-61828714-TGGT-T ANK3 c.11933_11935delCCA p.Thr3978delThr InFrameDeletion 37/44 -
20-45801437-G-A EYA2 c.1120G>A p.Val374Met Missense 12/16 -
1-152080398-GGCG-G TCHH c.5297_5299delGCC p.Arg1766delArg InFrameDeletion 3/3 -
3-178952085-A-G PIK3CA c.3140A>G p.His1047Arg Missense 21/21 -
1-152277510-AC-AG FLG c.9851_9852delGTinsAG p.Gly3284Glu Missense 3/3 -
1-228432236-G-C OBSCN c.3445G>C p.Gly1149Arg Missense 11/81 -
1-228432236-G-A OBSCN c.3445G>A p.Gly1149Arg Missense 11/81 -
17-38975180-GCCG-G KRT10 c.1621_1623delGGC p.Gly541delGly InFrameDeletion 7/8 -
1-152278435-TTCT-T FLG c.8926_8928delGAA p.Glu2976delGlu InFrameDeletion 3/3 -
3-48680469-CCCG-C CELSR3 c.8335_8337delCGG p.Arg2779delArg InFrameDeletion 29/35 -
8-145001818-CCAC-C PLEC c.3596_3598delTGG p.Val1199delVal InFrameDeletion 28/33 -
6-7585432-C-T DSP c.7937C>T p.Thr2646Met Missense 24/24 -
7-100678724-C-A MUC17 c.4027C>A p.Pro1343Thr Missense 3/13 -
16-2236759-G-A CASKIN1 c.997C>T p.Arg333Trp Missense 10/20 -
1-158637741-C-A SPTA1 c.1945G>T p.Glu649* Nonsense 15/52 -
1-152282120-G-T FLG c.5242C>A p.Gln1748Lys Missense 3/3 -
11-66457571-G-A SPTBN2 c.5749C>T p.Arg1917Trp Missense 27/37 -
1-152328192-A-C FLG2 c.2070T>G p.His690Gln Missense 3/3 -
9-35397632-A-AA UNC13B c.3430dupA - SpliceAcceptorInsertion 29/39 -
2-141457870-T-C LRP1B c.6748A>G p.Asn2250Asp Missense 41/91 -
22-51041925-CCAG-C MAPK8IP2 c.445_447delCAG p.Gln149delGln InFrameDeletion 3/13 -
7-100681363-C-G MUC17 c.6666C>G p.Phe2222Leu Missense 3/13 -
1-152283430-A-G FLG c.3932T>C p.Phe1311Ser Missense 3/3 -
20-60909579-C-A LAMA5 c.2581G>T p.Glu861* Nonsense 21/80 -
14-65259786-CTCC-C SPTB c.2594_2596delGAG p.Gly865delGly InFrameDeletion 13/35 -
20-45812004-G-A EYA2 c.1501G>A p.Gly501Ser Missense 15/16 -
16-2230236-C-G CASKIN1 c.3133G>C p.Ala1045Pro Missense 18/20 -
7-100682045-C-A MUC17 c.7348C>A p.Pro2450Thr Missense 3/13 -
1-152277106-C-T FLG c.10256G>A p.Arg3419Gln Missense 3/3 -
14-105411020-C-T AHNAK2 c.10768G>A p.Ala3590Thr Missense 7/7 -
17-74010545-C-A EVPL c.2335G>T p.Gly779Cys Missense 18/22 -
14-105418067-C-T AHNAK2 c.3721G>A p.Gly1241Ser Missense 7/7 -
1-228462377-G-A OBSCN c.5788G>A p.Val1930Met Missense 20/81 -
20-62195085-G-A HELZ2 c.5090C>T p.Ala1697Val Missense 9/20 -
8-145002106-TGAG-T PLEC c.3394_3396delCTC p.Leu1132delLeu InFrameDeletion 27/33 -
14-105410716-G-T AHNAK2 c.11072C>A p.Pro3691His Missense 7/7 -
17-74005187-C-T EVPL c.4099G>A p.Glu1367Lys Missense 22/22 -
1-152280083-C-T FLG c.7279G>A p.Ala2427Thr Missense 3/3 -
17-37627658-GACC-G CDK12 c.1573_1575delACC p.Thr525delThr InFrameDeletion 2/14 -
4-77676308-C-G SHROOM3 c.4672C>G p.Gln1558Glu Missense 7/11 -
19-52722956-C-T PPP2R1A c.1141C>T p.Arg381Trp Missense 10/15 -
12-52912805-C-T KRT5 c.695G>A p.Ser232Asn Missense 2/9 -
14-105413588-G-C AHNAK2 c.8200C>G p.Leu2734Val Missense 7/7 -
22-51041925-C-T MAPK8IP2 c.445C>T p.Gln149* Nonsense 3/13 -
1-228494989-C-A OBSCN c.12223C>A p.Gln4075Lys Missense 46/81 -
7-100683482-C-T MUC17 c.8785C>T p.Pro2929Ser Missense 3/13 -
1-228432198-C-T OBSCN c.3407C>T p.Ala1136Val Missense 11/81 -
14-105411236-C-T AHNAK2 c.10552G>A p.Ala3518Thr Missense 7/7 -
6-7580132-AAAC-A DSP c.3709_3711delAAC p.Asn1237delAsn InFrameDeletion 23/24 -
17-45219382-A-T CDC27 c.1406T>A p.Met469Lys Missense 12/19 -
20-62191410-T-C HELZ2 c.7696A>G p.Thr2566Ala Missense 19/20 -
19-966679-CCAA-C ARID3A c.1306_1308delCAA p.Gln436delGln InFrameDeletion 7/9 -
16-2237236-T-A CASKIN1 c.766A>T p.Thr256Ser Missense 8/20 -
7-100682261-G-C MUC17 c.7564G>C p.Val2522Leu Missense 3/13 -
22-22123579-T-C MAPK1 c.997A>G p.Met333Val Missense 8/9 -
1-152283589-G-T FLG c.3773C>A p.Ser1258* Nonsense 3/3 -
3-41266097-G-T CTNNB1 c.94G>T p.Asp32Tyr Missense 3/16 -
20-60905992-C-A LAMA5 c.3659G>T p.Cys1220Phe Missense 30/80 -
1-228505767-G-T OBSCN c.14024G>T p.Gly4675Val Missense 53/81 -
7-100678029-G-C MUC17 c.3332G>C p.Arg1111Thr Missense 3/13 -
6-7542181-C-CT DSP c.33_34insT p.Asn12*fs*1 Nonsense 1/24 -
1-228464316-C-G OBSCN c.6386C>G p.Pro2129Arg Missense 22/81 -
1-152128196-C-T RPTN c.1379G>A p.Ser460Asn Missense 3/3 -
4-77680731-T-TT SHROOM3 c.5232dupT p.Asn1745*fs*1 Nonsense 9/11 -
3-195511070-C-G MUC4 c.7381G>C p.Asp2461His Missense 2/25 -
7-100682351-A-G MUC17 c.7654A>G p.Ile2552Val Missense 3/13 -
14-105411400-T-C AHNAK2 c.10388A>G p.Glu3463Gly Missense 7/7 -
9-35403941-C-T UNC13B c.4687C>T p.Arg1563Trp Missense 39/39 -
14-105418508-C-G AHNAK2 c.3280G>C p.Val1094Leu Missense 7/7 -
7-100680579-C-A MUC17 c.5882C>A p.Ser1961Tyr Missense 3/13 -
1-152284673-G-A FLG c.2689C>T p.Arg897Cys Missense 3/3 -
1-152279954-T-G FLG c.7408A>C p.Ser2470Arg Missense 3/3 -
3-48682593-GGTG-G CELSR3 c.7846_7848delACC p.Thr2616delThr InFrameDeletion 25/35 -
1-152284655-T-C FLG c.2707A>G p.Arg903Gly Missense 3/3 -
14-105413471-T-C AHNAK2 c.8317A>G p.Lys2773Glu Missense 7/7 -
5-80088644-C-A MSH3 c.2636C>A p.Pro879Gln Missense 19/24 -
1-228522798-G-C OBSCN c.16204G>C p.Val5402Leu Missense 62/81 -
1-228522798-G-T OBSCN c.16204G>T p.Val5402Leu Missense 62/81 -
20-62195270-GGCC-G HELZ2 c.4903_4905delGGC p.Gly1635delGly InFrameDeletion 9/20 -
4-77662664-G-A SHROOM3 c.3338G>A p.Arg1113His Missense 5/11 -
6-56481864-G-A DST c.6401C>T p.Thr2134Met Missense 24/24 -
14-105413517-G-T AHNAK2 c.8271C>A p.Asn2757Lys Missense 7/7 -
14-105413517-G-C AHNAK2 c.8271C>G p.Asn2757Lys Missense 7/7 -
3-178938935-A-C PIK3CA c.2177A>C p.Glu726Ala Missense 14/21 -
3-178916623-C-T PIK3CA c.10C>T p.Arg4* Nonsense 2/21 -
17-4788808-G-A MINK1 c.539G>A p.Arg180His Missense 7/31 -
1-152326837-G-C FLG2 c.3425C>G p.Ala1142Gly Missense 3/3 -
7-100683472-A-T MUC17 c.8775A>T p.Glu2925Asp Missense 3/13 -
7-100683472-A-C MUC17 c.8775A>C p.Glu2925Asp Missense 3/13 -
6-56480547-C-T DST c.7718G>A p.Arg2573Gln Missense 24/24 -
7-100680228-C-A MUC17 c.5531C>A p.Ala1844Glu Missense 3/13 -
1-228468087-C-T OBSCN c.7871C>T p.Ala2624Val Missense 29/81 -
14-105421827-TCAA-T AHNAK2 c.457_459delTTG p.Leu153delLeu InFrameDeletion 5/7 -
1-152284263-G-T FLG c.3099C>A p.His1033Gln Missense 3/3 -
1-152284263-G-C FLG c.3099C>G p.His1033Gln Missense 3/3 -
20-45725802-G-A EYA2 c.883G>A p.Gly295Arg Missense 9/16 -
20-45725802-G-C EYA2 c.883G>C p.Gly295Arg Missense 9/16 -
1-152282852-A-G FLG c.4510T>C p.Tyr1504His Missense 3/3 -
3-41266971-CC-C CTNNB1 c.642delC p.Ala215Leufs*27 Frameshift 5/16 -
3-195515006-G-C MUC4 c.3445C>G p.His1149Asp Missense 2/25 -
16-2229188-C-T CASKIN1 c.3914G>A p.Arg1305Gln Missense 19/20 -
7-100682556-A-G MUC17 c.7859A>G p.Asp2620Gly Missense 3/13 -
1-228467542-C-T OBSCN c.7417C>T p.Arg2473Trp Missense 28/81 -
19-52716326-G-T PPP2R1A c.770G>T p.Trp257Leu Missense 6/15 -
1-152191180-TAGA-T HRNR c.2923_2925delTCT p.Ser977delSer InFrameDeletion 3/3 -
10-61834631-T-A ANK3 c.6008A>T p.Gln2003Leu Missense 37/44 -
14-105416684-T-TA AHNAK2 c.5103_5104insT p.Lys1702*fs*1 Nonsense 7/7 -
17-35454030-CCAG-C ACACA c.6679_6681delCTG p.Leu2227delLeu InFrameDeletion 54/56 -
3-48689456-G-C CELSR3 c.5777C>G p.Ser1926Cys Missense 12/35 -
1-152185695-C-A HRNR c.8410G>T p.Gly2804Cys Missense 3/3 -
11-66481105-C-T SPTBN2 c.769G>A p.Glu257Lys Missense 7/37 -
11-66478182-G-A SPTBN2 c.944C>T p.Ser315Leu Missense 9/37 -
1-152191783-G-T HRNR c.2322C>A p.His774Gln Missense 3/3 -
16-2231918-C-T CASKIN1 c.1642G>A p.Val548Met Missense 17/20 -
1-152191230-G-T HRNR c.2875C>A p.Gln959Lys Missense 3/3 -
19-52715983-G-A PPP2R1A c.548G>A p.Arg183Gln Missense 5/15 -
9-35376074-C-T UNC13B c.1418C>T p.Ser473Leu Missense 14/39 -
20-62198683-CCTC-C HELZ2 c.2027_2029delAGG p.Glu676delGlu InFrameDeletion 7/20 -
1-228504548-C-T OBSCN c.13424C>T p.Pro4475Leu Missense 51/81 -
19-40745962-G-A AKT2 c.629C>T p.Pro210Leu Missense 7/14 -
1-228399923-G-A OBSCN c.439G>A p.Gly147Arg Missense 2/81 -
1-228399923-G-C OBSCN c.439G>C p.Gly147Arg Missense 2/81 -
1-152276886-G-C FLG c.10476C>G p.Asp3492Glu Missense 3/3 -
1-152277315-C-A FLG c.10047G>T p.Glu3349Asp Missense 3/3 -
1-152277315-C-G FLG c.10047G>C p.Glu3349Asp Missense 3/3 -
3-178916876-G-A PIK3CA c.263G>A p.Arg88Gln Missense 2/21 -
1-152276886-G-T FLG c.10476C>A p.Asp3492Glu Missense 3/3 -
17-37876047-GGAC-G ERBB2 c.1906_1908delGAC p.Asp636delAsp InFrameDeletion 16/27 -
10-61829936-C-T ANK3 c.10703G>A p.Gly3568Glu Missense 37/44 -
14-105419653-A-G AHNAK2 c.2135T>C p.Leu712Pro Missense 7/7 -
20-60889911-C-T LAMA5 c.8140G>A p.Ala2714Thr Missense 60/80 -
7-100677581-A-T MUC17 c.2884A>T p.Thr962Ser Missense 3/13 -
12-25398284-C-G KRAS c.35G>C p.Gly12Ala Missense 2/6 -
12-25398284-C-A KRAS c.35G>T p.Gly12Val Missense 2/6 -
1-228475464-G-A OBSCN c.9614G>A p.Arg3205His Missense 36/81 -
1-152191577-C-T HRNR c.2528G>A p.Arg843Gln Missense 3/3 -
5-79950720-CAGC-C MSH3 c.174_176delAGC p.Ala62delAla InFrameDeletion 1/24 -
14-105414923-T-C AHNAK2 c.6865A>G p.Lys2289Glu Missense 7/7 -
X-75650211-G-A MAGEE1 c.1888G>A p.Val630Met Missense 1/1 -
11-66478411-C-T SPTBN2 c.862G>A p.Val288Met Missense 8/37 -
20-62191879-C-T HELZ2 c.7453G>A p.Glu2485Lys Missense 17/20 -
12-25398284-C-T KRAS c.35G>A p.Gly12Asp Missense 2/6 -
20-60889985-G-A LAMA5 c.8066C>T p.Thr2689Met Missense 60/80 -
3-178952072-A-G PIK3CA c.3127A>G p.Met1043Val Missense 21/21 -
4-88537412-G-A DSPP c.3598G>A p.Asp1200Asn Missense 5/5 -
3-195508936-G-C MUC4 c.9515C>G p.Thr3172Ser Missense 2/25 -
1-152190900-T-A HRNR c.3205A>T p.Ser1069Cys Missense 3/3 -
14-105417358-T-C AHNAK2 c.4430A>G p.Glu1477Gly Missense 7/7 -
19-40741948-C-T AKT2 c.1024G>A p.Glu342Lys Missense 11/14 -
19-46021266-G-A VASP c.257G>A p.Arg86His Missense 3/13 -
7-100681533-C-A MUC17 c.6836C>A p.Thr2279Asn Missense 3/13 -
1-152191964-C-G HRNR c.2141G>C p.Ser714Thr Missense 3/3 -
1-152281145-T-G FLG c.6217A>C p.Lys2073Gln Missense 3/3 -
14-105416046-G-T AHNAK2 c.5742C>A p.Phe1914Leu Missense 7/7 -
12-53071200-C-T KRT1 c.1028G>A p.Arg343His Missense 5/9 -
14-105416046-G-C AHNAK2 c.5742C>G p.Phe1914Leu Missense 7/7 -
1-152329942-C-T FLG2 c.320G>A p.Arg107Gln Missense 3/3 -
3-178928226-C-T PIK3CA c.1412C>T p.Pro471Leu Missense 9/21 -
1-152083325-A-T TCHH c.2368T>A p.Leu790Met Missense 3/3 -
4-77631404-C-T SHROOM3 c.419C>T p.Ala140Val Missense 3/11 -
6-7584072-G-A DSP c.6577G>A p.Glu2193Lys Missense 24/24 -
3-48679349-C-T CELSR3 c.8759G>A p.Arg2920Gln Missense 32/35 -