| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-228476577-C-G | OBSCN | c.10327C>G | p.Leu3443Val | Missense | 38/81 | - |
| 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 | - |
| 6-7579931-G-A | DSP | c.3508G>A | p.Glu1170Lys | Missense | 23/24 | - |
| 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 | - |
| 6-7580658-T-A | DSP | c.4235T>A | p.Leu1412Gln | Missense | 23/24 | - |
| 1-152280568-C-A | FLG | c.6794G>T | p.Arg2265Ile | Missense | 3/3 | - |
| 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 | - |
| 3-41275648-C-T | CTNNB1 | c.1543C>T | p.Arg515* | Nonsense | 10/16 | - |
| 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-G | HRNR | c.3055G>C | p.Gly1019Arg | Missense | 3/3 | - |
| 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 | - |
| 1-228528833-G-A | OBSCN | c.17735G>A | p.Arg5912His | Missense | 73/81 | - |
| 1-228476583-G-A | OBSCN | c.10333G>A | p.Val3445Met | Missense | 38/81 | - |
| 7-100680105-T-C | MUC17 | c.5408T>C | p.Leu1803Pro | Missense | 3/13 | - |
| 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 | - |
| 1-27059260-TCAG-T | ARID1A | c.1897_1899delCAG | p.Gln633delGln | InFrameDeletion | 4/20 | - |
| 14-105413791-G-A | AHNAK2 | c.7997C>T | p.Ser2666Phe | Missense | 7/7 | - |
| 3-48696988-C-T | CELSR3 | c.3080G>A | p.Arg1027Gln | Missense | 1/35 | - |
| 1-152193378-C-T | HRNR | c.727G>A | p.Gly243Ser | Missense | 3/3 | - |
| 7-100675451-C-G | MUC17 | c.754C>G | p.Gln252Glu | Missense | 3/13 | - |
| 14-105413372-T-C | AHNAK2 | c.8416A>G | p.Met2806Val | Missense | 7/7 | - |
| 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 | - |
| 14-105414686-C-T | AHNAK2 | c.7102G>A | p.Val2368Ile | Missense | 7/7 | - |
| 3-195506386-G-A | MUC4 | c.12065C>T | p.Pro4022Leu | Missense | 2/25 | - |
| 14-65216035-T-TA | SPTB | c.6975_6976insT | p.Lys2326*fs*1 | Nonsense | 35/35 | - |
| 1-152284319-C-G | FLG | c.3043G>C | p.Gly1015Arg | Missense | 3/3 | - |
| 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 | - |
| 14-105418918-C-A | AHNAK2 | c.2870G>T | p.Gly957Val | Missense | 7/7 | - |
| 17-38975261-G-A | KRT10 | c.1526C>T | p.Ser509Phe | Missense | 7/8 | - |
| 11-62303477-C-T | AHNAK | c.94G>A | p.Val32Ile | Missense | 3/6 | - |
| 19-40998887-T-TT | SPTBN4 | c.513dupT | p.Glu172*fs*1 | Nonsense | 5/36 | - |
| 14-65216396-ACTC-A | SPTB | c.6793_6795delGAG | p.Glu2265delGlu | InFrameDeletion | 34/35 | - |
| 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 | - |
| 14-105409546-T-G | AHNAK2 | c.12242A>C | p.Lys4081Thr | Missense | 7/7 | - |
| 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 | - |
| 1-152128065-C-T | RPTN | c.1510G>A | p.Gly504Arg | Missense | 3/3 | - |
| 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 | - |
| 14-105412801-G-C | AHNAK2 | c.8987C>G | p.Ser2996Cys | Missense | 7/7 | - |
| 1-152191019-G-T | HRNR | c.3086C>A | p.Ser1029Tyr | Missense | 3/3 | - |
| 3-195510267-ATGA-A | MUC4 | c.8187_8189delATC | p.Ser2730delSer | InFrameDeletion | 2/25 | - |
| 14-105410322-A-C | AHNAK2 | c.11466T>G | p.Ile3822Met | Missense | 7/7 | - |
| 14-105419654-G-A | AHNAK2 | c.2134C>T | p.Leu712Phe | 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 | - |
| 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 | - |
| 22-22221726-CGCC-C | MAPK1 | c.20_22delCGG | p.Ala7delAla | InFrameDeletion | 1/9 | - |
| 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 | - |
| 8-145001480-GCG-TGG | PLEC | c.3859_3861delCGCinsTGG | p.Arg1287Trp | Missense | 29/33 | - |
| 1-27058029-T-G | ARID1A | c.1737T>G | p.Tyr579* | Nonsense | 3/20 | - |
| 14-105414938-C-T | AHNAK2 | c.6850G>A | p.Val2284Met | Missense | 7/7 | - |
| 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 | - |
| 14-105413066-T-C | AHNAK2 | c.8722A>G | p.Lys2908Glu | 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 | - |
| 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 | - |
| 1-228509289-G-A | OBSCN | c.14747G>A | p.Arg4916Gln | Missense | 55/81 | - |
| 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-C | MAGEE1 | c.51G>C | p.Lys17Asn | Missense | 1/1 | - |
| 20-62195277-G-A | HELZ2 | c.4898C>T | p.Pro1633Leu | Missense | 9/20 | - |
| X-75648374-G-T | MAGEE1 | c.51G>T | p.Lys17Asn | Missense | 1/1 | - |
| 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 | - |
| 20-62191383-G-A | HELZ2 | c.7723C>T | p.Arg2575Trp | Missense | 19/20 | - |
| 1-228520965-T-A | OBSCN | c.15797T>A | p.Leu5266Gln | Missense | 58/81 | - |
| 3-48689423-C-A | CELSR3 | c.5810G>T | p.Arg1937Leu | Missense | 12/35 | - |
| 3-195506411-C-T | MUC4 | c.12040G>A | p.Ala4014Thr | Missense | 2/25 | - |
| 1-152284791-G-T | FLG | c.2571C>A | p.His857Gln | Missense | 3/3 | - |
| 1-152284791-G-C | FLG | c.2571C>G | p.His857Gln | Missense | 3/3 | - |
| 11-66469103-GGGG-G | SPTBN2 | c.2769_2771delCCC | p.Pro924delPro | InFrameDeletion | 15/37 | - |
| 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 | - |
| 3-178936095-A-T | PIK3CA | c.1637A>T | p.Gln546Leu | Missense | 10/21 | - |
| 14-105416839-G-T | AHNAK2 | c.4949C>A | p.Ala1650Glu | Missense | 7/7 | - |
| 1-152325818-G-C | FLG2 | c.4444C>G | p.His1482Asp | Missense | 3/3 | - |
| 3-195508937-T-A | MUC4 | c.9514A>T | p.Thr3172Ser | Missense | 2/25 | - |
| 4-72620817-A-AA | GC | c.1044dupT | p.Glu349*fs*1 | Nonsense | 9/13 | - |
| 19-968465-ATCA-A | ARID3A | c.1556_1558delTCA | p.Ile519delIle | InFrameDeletion | 8/9 | - |
| 4-88535836-GCAG-G | DSPP | c.2022_2024delCAG | p.Ser675delSer | InFrameDeletion | 5/5 | - |
| 19-52716301-C-T | PPP2R1A | c.745C>T | p.Arg249Cys | Missense | 6/15 | - |
| 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 | - |
| 4-88536737-G-A | DSPP | c.2923G>A | p.Asp975Asn | Missense | 5/5 | - |
| 3-48685349-G-A | CELSR3 | c.7054C>T | p.Arg2352* | Nonsense | 20/35 | - |
| 3-178936083-A-G | PIK3CA | c.1625A>G | p.Glu542Gly | Missense | 10/21 | - |
| 1-152324093-G-C | FLG2 | c.6169C>G | p.Gln2057Glu | Missense | 3/3 | - |
| 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 | - |
| 1-228463548-C-A | OBSCN | c.6041C>A | p.Pro2014Gln | Missense | 21/81 | - |
| 5-79950702-CAGC-C | MSH3 | c.156_158delAGC | p.Ala62delAla | InFrameDeletion | 1/24 | - |
| 4-77700047-G-A | SHROOM3 | c.5708G>A | p.Arg1903Gln | Missense | 11/11 | - |
| 14-105418508-C-A | AHNAK2 | c.3280G>T | p.Val1094Leu | Missense | 7/7 | - |
| 14-105407965-G-A | AHNAK2 | c.13823C>T | p.Ala4608Val | Missense | 7/7 | - |
| 1-228400030-C-A | OBSCN | c.546C>A | p.Tyr182* | Nonsense | 2/81 | - |
| 1-27099947-C-T | ARID1A | c.3826C>T | p.Arg1276* | Nonsense | 15/20 | - |
| 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 | - |
| 19-41060136-C-G | SPTBN4 | c.4758C>G | p.Ser1586Arg | Missense | 23/36 | - |
| 1-152187879-T-C | HRNR | c.6226A>G | p.Arg2076Gly | Missense | 3/3 | - |
| X-75648993-G-A | MAGEE1 | c.670G>A | p.Val224Met | Missense | 1/1 | - |
| 1-158604407-C-G | SPTA1 | c.5491G>C | p.Glu1831Gln | Missense | 39/52 | - |
| 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 | - |
| 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 | - |
| X-75650068-G-T | MAGEE1 | c.1745G>T | p.Gly582Val | Missense | 1/1 | - |
| 14-105412294-A-G | AHNAK2 | c.9494T>C | p.Leu3165Ser | Missense | 7/7 | - |
| 1-152327579-T-A | FLG2 | c.2683A>T | p.Ser895Cys | Missense | 3/3 | - |
| 19-52719100-A-AT | PPP2R1A | c.876_877insT | p.Asp293*fs*1 | Nonsense | 7/15 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 7-100677582-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 | - |
| 7-100679059-G-C | MUC17 | c.4362G>C | p.Lys1454Asn | Missense | 3/13 | - |
| 1-27099121-G-GT | ARID1A | c.3537_3538insT | - | SpliceDonorInsertion | 13/20 | - |
| 14-105413266-A-G | AHNAK2 | c.8522T>C | p.Leu2841Pro | Missense | 7/7 | - |
| 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 | - |
| 7-100683102-C-T | MUC17 | c.8405C>T | p.Thr2802Ile | Missense | 3/13 | - |
| 14-105412633-G-A | AHNAK2 | c.9155C>T | p.Pro3052Leu | Missense | 7/7 | - |
| 1-152187194-C-A | HRNR | c.6911G>T | p.Arg2304Leu | 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 | - |
| 12-52908794-C-G | KRT5 | c.1705G>C | p.Gly569Arg | Missense | 9/9 | - |
| 14-105407327-G-A | AHNAK2 | c.14461C>T | p.Pro4821Ser | Missense | 7/7 | - |
| 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 | - |
| 7-100684875-G-C | MUC17 | c.10178G>C | p.Ser3393Thr | Missense | 3/13 | - |
| 4-77662516-G-A | SHROOM3 | c.3190G>A | p.Asp1064Asn | Missense | 5/11 | - |
| 14-105415160-C-G | AHNAK2 | c.6628G>C | p.Val2210Leu | Missense | 7/7 | - |
| 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 | - |
| 3-195515915-C-CA | MUC4 | c.2535_2536insT | p.Glu846*fs*1 | Nonsense | 2/25 | - |
| 7-100681985-A-T | MUC17 | c.7288A>T | p.Thr2430Ser | Missense | 3/13 | - |
| 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-G | FLG | c.10872G>C | p.Glu3624Asp | Missense | 3/3 | - |
| 1-152276490-C-A | FLG | c.10872G>T | p.Glu3624Asp | Missense | 3/3 | - |
| 1-152187399-GCAG-G | HRNR | c.6706_6708delGCT | p.Ala2236delAla | InFrameDeletion | 3/3 | - |
| 6-7585534-T-C | DSP | c.8039T>C | p.Ile2680Thr | Missense | 24/24 | - |
| 14-65260495-C-T | SPTB | c.1886G>A | p.Arg629Gln | Missense | 13/35 | - |
| 1-228400030-C-G | OBSCN | c.546C>G | p.Tyr182* | Nonsense | 2/81 | - |
| 1-27094340-T-TT | ARID1A | c.3048dupT | p.Glu1017*fs*1 | Nonsense | 11/20 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 3-195515435-C-T | MUC4 | c.3016G>A | p.Ala1006Thr | Missense | 2/25 | - |
| 3-75790800-C-T | ZNF717 | c.145G>A | p.Asp49Asn | Missense | 3/5 | - |
| 14-105408638-G-C | AHNAK2 | c.13150C>G | p.Leu4384Val | Missense | 7/7 | - |
| 1-152084066-C-T | TCHH | c.1627G>A | p.Glu543Lys | Missense | 3/3 | - |
| 1-228469825-C-T | OBSCN | c.8389C>T | p.Arg2797Trp | Missense | 31/81 | - |
| 1-27057788-C-T | ARID1A | c.1496C>T | p.Ser499Leu | Missense | 3/20 | - |
| 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 | - |
| 7-100684502-A-G | MUC17 | c.9805A>G | p.Thr3269Ala | Missense | 3/13 | - |
| 1-152276045-A-G | FLG | c.11317T>C | p.Tyr3773His | Missense | 3/3 | - |
| 19-41062992-G-A | SPTBN4 | c.5353G>A | p.Ala1785Thr | Missense | 26/36 | - |
| 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 | - |
| 1-152328326-C-G | FLG2 | c.1936G>C | p.Gly646Arg | Missense | 3/3 | - |
| 1-152328546-C-A | FLG2 | c.1716G>T | p.Leu572Phe | Missense | 3/3 | - |
| 1-27023905-G-A | ARID1A | c.1011G>A | p.Trp337* | Nonsense | 1/20 | - |
| 1-228462332-G-A | OBSCN | c.5743G>A | p.Glu1915Lys | Missense | 20/81 | - |
| 14-65240080-G-A | SPTB | c.5036C>T | p.Ala1679Val | Missense | 24/35 | - |
| 19-41078058-GG-G | SPTBN4 | c.7453delG | p.Ala2485Leufs*31 | Frameshift | 34/36 | - |
| 14-105405284-G-A | AHNAK2 | c.16504C>T | p.Arg5502Trp | Missense | 7/7 | - |
| 1-152189067-C-T | HRNR | c.5038G>A | p.Gly1680Arg | Missense | 3/3 | - |
| 1-152084480-TGCT-T | TCHH | c.1217_1219delAGC | p.Gln406delGln | InFrameDeletion | 3/3 | - |
| 1-152189067-C-G | HRNR | c.5038G>C | p.Gly1680Arg | Missense | 3/3 | - |
| 19-52715982-C-T | PPP2R1A | c.547C>T | p.Arg183Trp | Missense | 5/15 | - |
| 7-100682922-G-C | MUC17 | c.8225G>C | p.Arg2742Pro | Missense | 3/13 | - |
| 20-62194375-G-A | HELZ2 | c.5800C>T | p.Arg1934Trp | Missense | 9/20 | - |
| 14-105416455-A-G | AHNAK2 | c.5333T>C | p.Met1778Thr | Missense | 7/7 | - |
| 17-74018494-C-T | EVPL | c.606G>A | p.Pro202Pro | Synonymous | 5/22 | - |
| 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 | - |
| 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 | - |
| 14-105413093-C-A | AHNAK2 | c.8695G>T | p.Val2899Leu | Missense | 7/7 | - |
| 14-105411448-C-T | AHNAK2 | c.10340G>A | p.Arg3447Lys | Missense | 7/7 | - |
| 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 | - |
| 14-105414343-C-T | AHNAK2 | c.7445G>A | p.Arg2482Lys | Missense | 7/7 | - |
| 17-74005072-A-C | EVPL | c.4214T>G | p.Leu1405Arg | Missense | 22/22 | - |
| 1-152326057-C-G | FLG2 | c.4205G>C | p.Gly1402Ala | Missense | 3/3 | - |
| 7-100680353-A-T | MUC17 | c.5656A>T | p.Thr1886Ser | Missense | 3/13 | - |
| 17-37884039-C-CT | ERBB2 | c.3510_3511insT | p.Lys1171*fs*1 | Nonsense | 27/27 | - |
| 1-158606445-C-T | SPTA1 | c.5296G>A | p.Glu1766Lys | Missense | 37/52 | - |
| 20-62197545-G-T | HELZ2 | c.2630C>A | p.Thr877Asn | Missense | 9/20 | - |
| 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 | - |
| 1-153233513-G-A | LOR | c.88G>A | p.Gly30Ser | Missense | 2/2 | - |
| 19-52715983-G-T | PPP2R1A | c.548G>T | p.Arg183Leu | Missense | 5/15 | - |
| 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 | - |
| 1-152326058-C-A | FLG2 | c.4204G>T | p.Gly1402Cys | Missense | 3/3 | - |
| 4-77476849-CAGC-C | SHROOM3 | c.256_258delAGC | p.Ser87delSer | InFrameDeletion | 2/11 | - |
| 3-178952013-G-A | PIK3CA | c.3068G>A | p.Arg1023Gln | Missense | 21/21 | - |
| 19-41062987-G-A | SPTBN4 | c.5348G>A | p.Arg1783Gln | Missense | 26/36 | - |
| 2-141625782-G-T | LRP1B | c.4220C>A | p.Ala1407Asp | Missense | 26/91 | - |
| 14-105418818-G-C | AHNAK2 | c.2970C>G | p.Asp990Glu | Missense | 7/7 | - |
| 3-195516156-TGTC-T | MUC4 | c.2293_2295delGAC | p.Asp765delAsp | InFrameDeletion | 2/25 | - |
| 14-105418818-G-T | AHNAK2 | c.2970C>A | p.Asp990Glu | Missense | 7/7 | - |
| 11-66461627-C-T | SPTBN2 | c.4486G>A | p.Asp1496Asn | Missense | 21/37 | - |
| 1-228433270-G-A | OBSCN | c.3638G>A | p.Arg1213His | Missense | 12/81 | - |
| 4-77662468-C-T | SHROOM3 | c.3142C>T | p.Arg1048Cys | Missense | 5/11 | - |
| 7-100680017-A-G | MUC17 | c.5320A>G | p.Ile1774Val | Missense | 3/13 | - |
| 1-152192259-T-C | HRNR | c.1846A>G | p.Thr616Ala | Missense | 3/3 | - |
| 1-152187048-C-T | HRNR | c.7057G>A | p.Gly2353Ser | Missense | 3/3 | - |
| 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 | - |
| 6-56485366-G-A | DST | c.3466C>T | p.Arg1156* | Nonsense | 23/24 | - |
| 3-195506438-T-C | MUC4 | c.12013A>G | p.Ser4005Gly | Missense | 2/25 | - |
| 14-105419549-G-T | AHNAK2 | c.2239C>A | p.Pro747Thr | Missense | 7/7 | - |
| 12-25398285-C-A | KRAS | c.34G>T | p.Gly12Cys | Missense | 2/6 | - |
| 1-27023818-C-A | ARID1A | c.924C>A | p.Tyr308* | Nonsense | 1/20 | - |
| 19-52716323-C-T | PPP2R1A | c.767C>T | p.Ser256Phe | Missense | 6/15 | - |
| 1-27023818-C-G | ARID1A | c.924C>G | p.Tyr308* | Nonsense | 1/20 | - |
| 1-152324114-C-T | FLG2 | c.6148G>A | p.Ala2050Thr | Missense | 3/3 | - |
| 3-195513010-G-A | MUC4 | c.5441C>T | p.Pro1814Leu | Missense | 2/25 | - |
| 1-152084296-CT-CA | TCHH | c.1396_1397delAGinsCA | p.Arg466Gln | Missense | 3/3 | - |
| 11-66461717-C-T | SPTBN2 | c.4396G>A | p.Val1466Met | Missense | 21/37 | - |
| 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 | - |
| 14-105408107-G-T | AHNAK2 | c.13681C>A | p.Leu4561Ile | Missense | 7/7 | - |
| 1-152083777-T-G | TCHH | c.1916A>C | p.Gln639Pro | Missense | 3/3 | - |
| 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 | - |
| 4-88536089-CAGT-C | DSPP | c.2275_2277delAGT | p.Ser759delSer | InFrameDeletion | 5/5 | - |
| 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 | - |
| 1-152283256-C-G | FLG | c.4106G>C | p.Arg1369Thr | Missense | 3/3 | - |
| 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 | - |
| 9-35403873-G-A | UNC13B | c.4619G>A | p.Gly1540Asp | Missense | 39/39 | - |
| 7-100676109-A-C | MUC17 | c.1412A>C | p.Asn471Thr | Missense | 3/13 | - |
| 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 | - |
| 3-195515449-A-G | MUC4 | c.3002T>C | p.Val1001Ala | Missense | 2/25 | - |
| 14-105419610-C-A | AHNAK2 | c.2178G>T | p.Gln726His | Missense | 7/7 | - |
| 1-152282147-G-T | FLG | c.5215C>A | p.Gln1739Lys | Missense | 3/3 | - |
| 7-100682552-A-G | MUC17 | c.7855A>G | p.Lys2619Glu | Missense | 3/13 | - |
| 17-38975298-C-A | KRT10 | c.1489G>T | p.Gly497Cys | Missense | 7/8 | - |
| 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 | - |
| 1-152191783-G-C | HRNR | c.2322C>G | p.His774Gln | Missense | 3/3 | - |
| 14-105412466-C-T | AHNAK2 | c.9322G>A | p.Gly3108Ser | Missense | 7/7 | - |
| 4-77678005-C-T | SHROOM3 | c.5113C>T | p.Arg1705* | Nonsense | 8/11 | - |
| 1-158617396-G-A | SPTA1 | c.3829C>T | p.Arg1277Cys | Missense | 27/52 | - |
| 6-7558461-G-A | DSP | c.386G>A | p.Arg129Gln | Missense | 3/24 | - |
| 1-153233828-CGGC-C | LOR | c.403_405delGGC | p.Gly135delGly | InFrameDeletion | 2/2 | - |
| 1-152277137-G-C | FLG | c.10225C>G | p.Arg3409Gly | Missense | 3/3 | - |
| 8-144999603-GCG-TGG | PLEC | c.4573_4575delCGCinsTGG | p.Arg1525Trp | Missense | 32/33 | - |
| 14-105412598-A-C | AHNAK2 | c.9190T>G | p.Leu3064Val | Missense | 7/7 | - |
| 3-195508586-A-C | MUC4 | c.9865T>G | p.Ser3289Ala | Missense | 2/25 | - |
| 1-152186877-C-G | HRNR | c.7228G>C | p.Gly2410Arg | Missense | 3/3 | - |
| 1-152186877-C-T | HRNR | c.7228G>A | p.Gly2410Arg | Missense | 3/3 | - |
| 1-152280803-T-TA | FLG | c.6558_6559insT | p.Arg2187*fs*1 | Nonsense | 3/3 | - |
| 14-105416254-G-A | AHNAK2 | c.5534C>T | p.Ser1845Leu | Missense | 7/7 | - |
| 16-69973817-GGAG-G | WWP2 | c.2587_2589delGAG | p.Glu863delGlu | InFrameDeletion | 25/25 | - |
| 19-52716323-C-A | PPP2R1A | c.767C>A | p.Ser256Tyr | Missense | 6/15 | - |
| 1-53925412-C-T | DMRTB1 | c.286C>T | p.Arg96Cys | Missense | 1/4 | - |
| 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 | - |
| 16-2231127-C-T | CASKIN1 | c.2242G>A | p.Gly748Ser | Missense | 18/20 | - |
| 7-100679169-C-A | MUC17 | c.4472C>A | p.Ala1491Glu | Missense | 3/13 | - |
| 17-45235598-G-T | CDC27 | c.449C>A | p.Ser150Tyr | Missense | 5/19 | - |
| 19-40978640-G-A | SPTBN4 | c.112G>A | p.Ala38Thr | Missense | 2/36 | - |
| 6-56480838-G-A | DST | c.7427C>T | p.Ala2476Val | Missense | 24/24 | - |
| 1-152278594-A-T | FLG | c.8768T>A | p.Leu2923Gln | Missense | 3/3 | - |
| 3-178919287-G-T | PIK3CA | c.772G>T | p.Asp258Tyr | Missense | 4/21 | - |
| 14-65263370-G-A | SPTB | c.1246C>T | p.Arg416Trp | Missense | 10/35 | - |
| 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 | - |
| 1-27058029-T-A | ARID1A | c.1737T>A | p.Tyr579* | Nonsense | 3/20 | - |
| 6-56500411-CTAG-C | DST | c.1549_1551delCTA | p.Leu517delLeu | InFrameDeletion | 10/24 | - |
| 14-65251050-C-T | SPTB | c.3917G>A | p.Arg1306Gln | Missense | 18/35 | - |
| 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 | - |
| 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 | - |
| 6-7585846-C-T | DSP | c.8351C>T | p.Ser2784Phe | Missense | 24/24 | - |
| 10-61831651-C-G | ANK3 | c.8988G>C | p.Gln2996His | Missense | 37/44 | - |
| 1-152279642-G-C | FLG | c.7720C>G | p.Gln2574Glu | Missense | 3/3 | - |
| 14-105412100-G-C | AHNAK2 | c.9688C>G | p.Gln3230Glu | Missense | 7/7 | - |
| 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 | - |
| 19-46021013-T-G | VASP | c.98T>G | p.Phe33Cys | Missense | 2/13 | - |
| 16-2239305-G-T | CASKIN1 | c.420C>A | p.Asn140Lys | Missense | 5/20 | - |
| 1-152323277-G-A | FLG2 | c.6985C>T | p.Gln2329* | Nonsense | 3/3 | - |
| 1-228503679-A-G | OBSCN | c.13144A>G | p.Thr4382Ala | Missense | 50/81 | - |
| 9-35382464-A-C | UNC13B | c.2519A>C | p.Asn840Thr | Missense | 20/39 | - |
| 1-27099121-G-GG | ARID1A | c.3537dupG | - | SpliceDonorInsertion | 13/20 | - |
| 8-133883743-GACG-G | TG | c.425_427delACG | p.Asp142delAsp | InFrameDeletion | 4/48 | - |
| 1-152277704-C-G | FLG | c.9658G>C | p.Asp3220His | Missense | 3/3 | - |
| 1-228509733-C-T | OBSCN | c.15191C>T | p.Ala5064Val | Missense | 55/81 | - |
| 7-100681211-G-T | MUC17 | c.6514G>T | p.Val2172Leu | Missense | 3/13 | - |
| 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 | - |
| 20-45801465-G-A | EYA2 | c.1148G>A | p.Arg383His | Missense | 12/16 | - |
| 4-77661952-C-T | SHROOM3 | c.2626C>T | p.Arg876Cys | Missense | 5/11 | - |
| 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 | - |
| 20-62194713-A-T | HELZ2 | c.5462T>A | p.Leu1821Gln | Missense | 9/20 | - |
| 1-228412271-C-T | OBSCN | c.2765C>T | p.Thr922Met | Missense | 9/81 | - |
| 1-27099122-A-AA | ARID1A | c.3538dupA | - | SpliceDonorInsertion | 13/20 | - |
| 3-178936091-G-A | PIK3CA | c.1633G>A | p.Glu545Lys | Missense | 10/21 | - |
| 7-100681211-G-C | MUC17 | c.6514G>C | p.Val2172Leu | Missense | 3/13 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 1-152129136-C-T | RPTN | c.439G>A | p.Gly147Ser | Missense | 3/3 | - |
| 20-60885861-G-A | LAMA5 | c.10306C>T | p.Arg3436Trp | Missense | 75/80 | - |
| 1-158592886-A-T | SPTA1 | c.6007T>A | p.Ser2003Thr | Missense | 43/52 | - |
| 1-152324440-A-G | FLG2 | c.5822T>C | p.Ile1941Thr | 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 | - |
| 1-152327858-T-C | FLG2 | c.2404A>G | p.Ser802Gly | 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 | - |
| 1-152281113-G-C | FLG | c.6249C>G | p.Ser2083Arg | Missense | 3/3 | - |
| 22-22153396-G-A | MAPK1 | c.514C>T | p.Arg172Cys | Missense | 4/9 | - |
| 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 | - |
| 17-74005742-C-T | EVPL | c.3544G>A | p.Val1182Met | Missense | 22/22 | - |
| 1-27100203-AGCA-A | ARID1A | c.3999_4001delGCA | p.Gln1334delGln | InFrameDeletion | 16/20 | - |
| 10-61965552-C-T | ANK3 | c.1291G>A | p.Glu431Lys | Missense | 11/44 | - |
| 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 | - |
| 20-60908258-G-A | LAMA5 | c.3170C>T | p.Ser1057Leu | Missense | 26/80 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 7-100683723-G-C | MUC17 | c.9026G>C | p.Arg3009Thr | Missense | 3/13 | - |
| 1-27099417-T-TT | ARID1A | c.3654dupT | p.Asp1219*fs*1 | Nonsense | 14/20 | - |
| 20-62190630-C-T | HELZ2 | c.7919G>A | p.Arg2640His | Missense | 20/20 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 19-41018732-GCGG-G | SPTBN4 | c.2036_2038delCGG | p.Ala679delAla | InFrameDeletion | 14/36 | - |
| 7-100683179-G-A | MUC17 | c.8482G>A | p.Gly2828Ser | Missense | 3/13 | - |
| 1-152279952-A-C | FLG | c.7410T>G | p.Ser2470Arg | Missense | 3/3 | - |
| 1-152279952-A-T | FLG | c.7410T>A | 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 | - |
| 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 | - |
| 8-133899518-GGAG-G | TG | c.1901_1903delGAG | p.Gly634delGly | InFrameDeletion | 9/48 | - |
| 1-152083846-C-A | TCHH | c.1847G>T | p.Arg616Leu | Missense | 3/3 | - |
| 1-153233708-CGGC-C | LOR | c.283_285delGGC | p.Gly95delGly | InFrameDeletion | 2/2 | - |
| 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 | - |
| 2-141457915-T-TA | LRP1B | c.6702_6703insT | p.Arg2235*fs*1 | Nonsense | 41/91 | - |
| 3-178936094-C-G | PIK3CA | c.1636C>G | p.Gln546Glu | Missense | 10/21 | - |
| 12-25398281-C-T | KRAS | c.38G>A | p.Gly13Asp | Missense | 2/6 | - |
| 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 | - |
| 6-56485116-C-T | DST | c.3716G>A | p.Arg1239His | Missense | 23/24 | - |
| 1-152186844-G-A | HRNR | c.7261C>T | p.Arg2421Cys | Missense | 3/3 | - |
| 1-152128057-GGCC-G | RPTN | c.1516_1518delGGC | p.Gly506delGly | InFrameDeletion | 3/3 | - |
| 1-152281113-G-T | FLG | c.6249C>A | p.Ser2083Arg | Missense | 3/3 | - |
| 1-152081230-A-C | TCHH | c.4463T>G | p.Leu1488Arg | 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 | - |
| 14-105419446-T-G | AHNAK2 | c.2342A>C | p.Lys781Thr | Missense | 7/7 | - |
| 20-45801390-C-T | EYA2 | c.1073C>T | p.Ser358Leu | Missense | 12/16 | - |
| 19-52715970-C-A | PPP2R1A | c.535C>A | p.Pro179Thr | Missense | 5/15 | - |
| 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 | - |
| 16-2228904-G-A | CASKIN1 | c.4198C>T | p.Arg1400Cys | Missense | 19/20 | - |
| 1-228475581-G-A | OBSCN | c.9731G>A | p.Arg3244Gln | Missense | 36/81 | - |
| 8-145002106-TGAG-T | PLEC | c.3394_3396delCTC | p.Leu1132delLeu | InFrameDeletion | 27/33 | - |
| 7-100680354-C-G | MUC17 | c.5657C>G | p.Thr1886Ser | Missense | 3/13 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 17-35597393-CATT-C | ACACA | c.3007_3009delAAT | p.Asn1003delAsn | InFrameDeletion | 24/56 | - |
| 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 | - |
| 17-37687306-C-T | CDK12 | c.4210C>T | p.Arg1404Cys | Missense | 14/14 | - |
| 3-178936082-G-A | PIK3CA | c.1624G>A | p.Glu542Lys | Missense | 10/21 | - |
| 1-152328192-A-C | FLG2 | c.2070T>G | p.His690Gln | Missense | 3/3 | - |
| 9-35397632-A-AA | UNC13B | c.3430dupA | - | SpliceAcceptorInsertion | 29/39 | - |
| 10-61828714-TGGT-T | ANK3 | c.11933_11935delCCA | p.Thr3978delThr | InFrameDeletion | 37/44 | - |
| 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 | - |
| 1-152277510-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 | - |
| 14-105410804-C-G | AHNAK2 | c.10984G>C | p.Asp3662His | Missense | 7/7 | - |
| 1-152277106-C-T | FLG | c.10256G>A | p.Arg3419Gln | Missense | 3/3 | - |
| 7-100682045-C-A | MUC17 | c.7348C>A | p.Pro2450Thr | Missense | 3/13 | - |
| 14-105411020-C-T | AHNAK2 | c.10768G>A | p.Ala3590Thr | Missense | 7/7 | - |
| 1-228474615-G-A | OBSCN | c.9419G>A | p.Arg3140Gln | Missense | 35/81 | - |
| 8-145001818-CCAC-C | PLEC | c.3596_3598delTGG | p.Val1199delVal | InFrameDeletion | 28/33 | - |
| 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 | - |
| 3-178952007-A-G | PIK3CA | c.3062A>G | p.Tyr1021Cys | Missense | 21/21 | - |
| 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 | - |
| 1-152328547-A-G | FLG2 | c.1715T>C | p.Leu572Ser | Missense | 3/3 | - |
| 11-66457571-G-A | SPTBN2 | c.5749C>T | p.Arg1917Trp | Missense | 27/37 | - |
| 1-152328192-A-T | FLG2 | c.2070T>A | p.His690Gln | Missense | 3/3 | - |
| 20-45801437-G-A | EYA2 | c.1120G>A | p.Val374Met | Missense | 12/16 | - |
| 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 | - |
| 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 | - |
| 20-45812004-G-A | EYA2 | c.1501G>A | p.Gly501Ser | Missense | 15/16 | - |
| 17-38975180-GCCG-G | KRT10 | c.1621_1623delGGC | p.Gly541delGly | InFrameDeletion | 7/8 | - |
| 16-2230236-C-G | CASKIN1 | c.3133G>C | p.Ala1045Pro | Missense | 18/20 | - |
| 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 | - |
| 17-74010545-C-A | EVPL | c.2335G>T | p.Gly779Cys | Missense | 18/22 | - |
| 20-62195085-G-A | HELZ2 | c.5090C>T | p.Ala1697Val | Missense | 9/20 | - |
| 17-74005187-C-T | EVPL | c.4099G>A | p.Glu1367Lys | Missense | 22/22 | - |
| 19-52722956-C-T | PPP2R1A | c.1141C>T | p.Arg381Trp | Missense | 10/15 | - |
| 1-152280083-C-T | FLG | c.7279G>A | p.Ala2427Thr | Missense | 3/3 | - |
| 14-105410716-G-T | AHNAK2 | c.11072C>A | p.Pro3691His | Missense | 7/7 | - |
| 4-77676308-C-G | SHROOM3 | c.4672C>G | p.Gln1558Glu | Missense | 7/11 | - |
| 17-37627658-GACC-G | CDK12 | c.1573_1575delACC | p.Thr525delThr | InFrameDeletion | 2/14 | - |
| 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 | - |
| 6-7580132-AAAC-A | DSP | c.3709_3711delAAC | p.Asn1237delAsn | InFrameDeletion | 23/24 | - |
| 22-51041925-C-T | MAPK8IP2 | c.445C>T | p.Gln149* | Nonsense | 3/13 | - |
| 7-100683482-C-T | MUC17 | c.8785C>T | p.Pro2929Ser | Missense | 3/13 | - |
| 1-228494989-C-A | OBSCN | c.12223C>A | p.Gln4075Lys | Missense | 46/81 | - |
| 14-105411236-C-T | AHNAK2 | c.10552G>A | p.Ala3518Thr | Missense | 7/7 | - |
| 17-45219382-A-T | CDC27 | c.1406T>A | p.Met469Lys | Missense | 12/19 | - |
| 1-228432198-C-T | OBSCN | c.3407C>T | p.Ala1136Val | Missense | 11/81 | - |
| 20-62191410-T-C | HELZ2 | c.7696A>G | p.Thr2566Ala | Missense | 19/20 | - |
| 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 | - |
| 1-152283589-G-T | FLG | c.3773C>A | p.Ser1258* | Nonsense | 3/3 | - |
| 22-22123579-T-C | MAPK1 | c.997A>G | p.Met333Val | Missense | 8/9 | - |
| 19-966679-CCAA-C | ARID3A | c.1306_1308delCAA | p.Gln436delGln | InFrameDeletion | 7/9 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 4-77680731-T-TT | SHROOM3 | c.5232dupT | p.Asn1745*fs*1 | Nonsense | 9/11 | - |
| 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 | - |
| 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 | - |
| 14-105411400-T-C | AHNAK2 | c.10388A>G | p.Glu3463Gly | Missense | 7/7 | - |
| 7-100680228-C-A | MUC17 | c.5531C>A | p.Ala1844Glu | Missense | 3/13 | - |
| 14-105418508-C-G | AHNAK2 | c.3280G>C | p.Val1094Leu | Missense | 7/7 | - |
| 3-41266097-G-T | CTNNB1 | c.94G>T | p.Asp32Tyr | Missense | 3/16 | - |
| 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 | - |
| 1-152128196-C-T | RPTN | c.1379G>A | p.Ser460Asn | Missense | 3/3 | - |
| 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 | - |
| 3-195511070-C-G | MUC4 | c.7381G>C | p.Asp2461His | Missense | 2/25 | - |
| 1-152326837-G-C | FLG2 | c.3425C>G | p.Ala1142Gly | Missense | 3/3 | - |
| 7-100682351-A-G | MUC17 | c.7654A>G | p.Ile2552Val | Missense | 3/13 | - |
| 6-56480547-C-T | DST | c.7718G>A | p.Arg2573Gln | Missense | 24/24 | - |
| 1-228468087-C-T | OBSCN | c.7871C>T | p.Ala2624Val | Missense | 29/81 | - |
| 9-35403941-C-T | UNC13B | c.4687C>T | p.Arg1563Trp | Missense | 39/39 | - |
| 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 | - |
| 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 | - |
| 7-100682556-A-G | MUC17 | c.7859A>G | p.Asp2620Gly | Missense | 3/13 | - |
| 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 | - |
| 3-195515006-G-C | MUC4 | c.3445C>G | p.His1149Asp | Missense | 2/25 | - |
| 3-41266971-CC-C | CTNNB1 | c.642delC | p.Ala215Leufs*27 | Frameshift | 5/16 | - |
| 16-2229188-C-T | CASKIN1 | c.3914G>A | p.Arg1305Gln | Missense | 19/20 | - |
| 1-228467542-C-T | OBSCN | c.7417C>T | p.Arg2473Trp | Missense | 28/81 | - |
| 10-61834631-T-A | ANK3 | c.6008A>T | p.Gln2003Leu | Missense | 37/44 | - |
| 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 | - |
| 14-105416684-T-TA | AHNAK2 | c.5103_5104insT | p.Lys1702*fs*1 | Nonsense | 7/7 | - |
| 3-48689456-G-C | CELSR3 | c.5777C>G | p.Ser1926Cys | Missense | 12/35 | - |
| 17-35454030-CCAG-C | ACACA | c.6679_6681delCTG | p.Leu2227delLeu | InFrameDeletion | 54/56 | - |
| 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 | - |
| 16-2231918-C-T | CASKIN1 | c.1642G>A | p.Val548Met | Missense | 17/20 | - |
| 1-152191783-G-T | HRNR | c.2322C>A | p.His774Gln | Missense | 3/3 | - |
| 9-35376074-C-T | UNC13B | c.1418C>T | p.Ser473Leu | Missense | 14/39 | - |
| 19-52715983-G-A | PPP2R1A | c.548G>A | p.Arg183Gln | Missense | 5/15 | - |
| 20-62198683-CCTC-C | HELZ2 | c.2027_2029delAGG | p.Glu676delGlu | InFrameDeletion | 7/20 | - |
| 1-152191230-G-T | HRNR | c.2875C>A | p.Gln959Lys | Missense | 3/3 | - |
| 1-228399923-G-A | OBSCN | c.439G>A | p.Gly147Arg | Missense | 2/81 | - |
| 19-40745962-G-A | AKT2 | c.629C>T | p.Pro210Leu | Missense | 7/14 | - |
| 1-228399923-G-C | OBSCN | c.439G>C | p.Gly147Arg | Missense | 2/81 | - |
| 1-228504548-C-T | OBSCN | c.13424C>T | p.Pro4475Leu | Missense | 51/81 | - |
| 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 | - |
| 7-100677581-A-T | MUC17 | c.2884A>T | p.Thr962Ser | Missense | 3/13 | - |
| 11-66478411-C-T | SPTBN2 | c.862G>A | p.Val288Met | Missense | 8/37 | - |
| 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 | - |
| 1-152191577-C-T | HRNR | c.2528G>A | p.Arg843Gln | Missense | 3/3 | - |
| 3-195508936-G-C | MUC4 | c.9515C>G | p.Thr3172Ser | Missense | 2/25 | - |
| 4-88537412-G-A | DSPP | c.3598G>A | p.Asp1200Asn | Missense | 5/5 | - |
| 1-152191964-C-G | HRNR | c.2141G>C | p.Ser714Thr | Missense | 3/3 | - |
| 14-105416046-G-C | AHNAK2 | c.5742C>G | p.Phe1914Leu | Missense | 7/7 | - |
| 14-105416046-G-T | AHNAK2 | c.5742C>A | p.Phe1914Leu | Missense | 7/7 | - |
| 1-152276886-G-C | FLG | c.10476C>G | p.Asp3492Glu | Missense | 3/3 | - |
| 10-61829936-C-T | ANK3 | c.10703G>A | p.Gly3568Glu | Missense | 37/44 | - |
| 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 | - |
| 14-105419653-A-G | AHNAK2 | c.2135T>C | p.Leu712Pro | Missense | 7/7 | - |
| X-75650211-G-A | MAGEE1 | c.1888G>A | p.Val630Met | Missense | 1/1 | - |
| 20-60889911-C-T | LAMA5 | c.8140G>A | p.Ala2714Thr | Missense | 60/80 | - |
| 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 | - |
| 1-228475464-G-A | OBSCN | c.9614G>A | p.Arg3205His | Missense | 36/81 | - |
| 17-37876047-GGAC-G | ERBB2 | c.1906_1908delGAC | p.Asp636delAsp | InFrameDeletion | 16/27 | - |
| 3-178952072-A-G | PIK3CA | c.3127A>G | p.Met1043Val | Missense | 21/21 | - |
| 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 | - |
| 1-152281145-T-G | FLG | c.6217A>C | p.Lys2073Gln | Missense | 3/3 | - |
| 12-53071200-C-T | KRT1 | c.1028G>A | p.Arg343His | Missense | 5/9 | - |
| 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 | - |
| 1-152084455-CAGC-C | TCHH | c.1237_1239delCTG | p.Leu413delLeu | InFrameDeletion | 3/3 | - |
| 3-48679349-C-T | CELSR3 | c.8759G>A | p.Arg2920Gln | Missense | 32/35 | - |
| 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 | - |
| 1-152283598-T-C | FLG | c.3764A>G | p.Glu1255Gly | Missense | 3/3 | - |
| 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 | - |
| 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 | - |
| 3-48698864-G-A | CELSR3 | c.1204C>T | p.Arg402Cys | Missense | 1/35 | - |
| 1-152284081-G-T | FLG | c.3281C>A | p.Pro1094His | Missense | 3/3 | - |
| 14-65260543-C-A | SPTB | c.1838G>T | p.Ser613Ile | Missense | 13/35 | - |
| 1-27099303-GC-G | ARID1A | c.3540delC | p.Ser1180Argfs*26 | Frameshift | 14/20 | - |
| 1-27056349-C-T | ARID1A | c.1345C>T | p.Gln449* | Nonsense | 2/20 | - |
| 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 | - |
| 7-100679783-A-C | MUC17 | c.5086A>C | p.Thr1696Pro | Missense | 3/13 | - |
| 14-105413318-C-G | AHNAK2 | c.8470G>C | p.Gly2824Arg | Missense | 7/7 | - |
| 17-38978372-G-A | KRT10 | c.466C>T | p.Arg156Cys | Missense | 1/8 | - |
| 7-100683099-C-G | MUC17 | c.8402C>G | p.Pro2801Arg | Missense | 3/13 | - |
| 14-105416048-A-G | AHNAK2 | c.5740T>C | p.Phe1914Leu | Missense | 7/7 | - |
| 3-195508955-C-T | MUC4 | c.9496G>A | p.Ala3166Thr | Missense | 2/25 | - |
| 1-152084549-G-C | TCHH | c.1144C>G | p.Gln382Glu | Missense | 3/3 | - |
| 7-100682967-T-C | MUC17 | c.8270T>C | p.Leu2757Pro | Missense | 3/13 | - |
| 3-178952077-T-A | PIK3CA | c.3132T>A | p.Asn1044Lys | Missense | 21/21 | - |