Table S2. Description of 153 potential somatic variants selected in 23 samples of uterine tumors.
Sample | Chr:Pos | Gene | HGVS c. | HGVS p. | Effect |
---|---|---|---|---|---|
UCS2 | 3:178921549 | PIK3CA | c.1031T>C | p.Val344Ala | Missense |
6:94120318 | EPHA7 | c.733G>A | p.Ala245Thr | Missense | |
7:116339356 | MET | c.218T>A | p.Leu73Ter | LOF: stop - gained | |
8:48776121 | PRKDC | c.5586delT | p.Phe1862Leufs | LOF: frameshift | |
15:99500303 | IGF1R | c.3736C>T | p.Arg1246Cys | Missense | |
17:7577547 | TP53 | c.734G>T | p.Gly245Val | Missense | |
22:33253291 | TIMP3 | c.260delC | p.Glu88Argfs | LOF: frameshift | |
UCS5 | 1:11227575 | MTOR | c.4254-1G>A | r.spl? | LOF: splice - acceptor |
1:27105553 | ARID1A | c.5164C>T | p.Arg1722Ter | LOF: stop - gained | |
1:65310574 | JAK1 | c.2116-2A>G | r.spl? | LOF: splice - acceptor | |
3:178952085 | PIK3CA | c.3140A>G | p.His1047Arg | Missense | |
10:76735809 | KAT6B | c.1714C>T | p.Arg572Cys | Missense | |
10:97969609 | BLNK | c.731C>T | p.Pro244Leu | Missense | |
11:108114777 | ATM | c.594C>A | p.Cys198Ter | LOF: stop - gained | |
14:95572101 | DICER1 | c.3007C>T | p.Arg1003Ter | LOF: stop - gained | |
17:29588751 | NF1 | c.4600C>T | p.Arg1534Ter | LOF: stop - gained | |
17:29665110 | NF1 | c.6772C>T | p.Arg2258Ter | LOF: stop - gained | |
19:45260400 | BCL3 | c.646C>T | p.Arg216Cys | Missense | |
1:47685756 | TAL1 | c.632G>A | p.Arg211His | Missense | |
2:25469168 | DNMT3A | c.1290T>G | p.Asn430Lys | Missense | |
2:212587219 | ERBB4 | c.782A>C | p.Gln261Pro | Missense | |
7:98513427 | TRRAP | c.2281C>T | p.Arg761Trp | Missense | |
9:37015073 | PAX5 | c.331G>A | p.Ala111Thr | Missense | |
19:11098401 | SMARCA4 | c.919C>T | p.Pro307Ser | Missense | |
20:36030940 | SRC | c.1219G>A | p.Asp407Asn | Missense | |
X:44942716 | KDM6A | c.3452A>G | p.Gln1151Arg | Missense | |
X:66766207 | AR | c.1219C>T | p.Arg407Cys | Missense | |
UCS9 | 9:139391355 | NOTCH1 | c.6836C>T | p.Ala2279Val | Missense |
10:123298226 | FGFR2 | c.628C>T | p.Arg210Ter | LOF: stop - gained | |
12:49444719 | KMT2D | c.2747C>T | p.Pro916Leu | Missense | |
15:40916649 | KNL1 | c.4265G>A | p.Arg1422Gln | Missense | |
17:7578442 | TP53 | c.488A>G | p.Tyr163Cys | Missense | |
3:52440867 | BAP1 | c.637C>T | p.Arg213Cys | Missense | |
21:39755729 | ERG | c.1057G>A | p.Glu353Lys | Missense | |
UCS13 | 3:178916854 | PIK3CA | c.241G>A | p.Glu81Lys | Missense |
11:71726283 | NUMA1 | c.2266G>T | p.Glu756Ter | LOF: stop - gained | |
13:29001422 | FLT1 | c.1310C>T | p.Ser437Leu | Missense | |
14:95574253 | DICER1 | c.2614G>A | p.Ala872Thr | Missense | |
17:7577534 | TP53 | c.747G>T | p.Arg249Ser | Missense | |
5:176636902 | NSD1 | c.1502A>G | p.Lys501Arg | Missense | |
7:98609947 | TRRAP | c.11549G>A | p.Arg3850His | Missense | |
UCS19 | 2:212295800 | ERBB4 | c.2513G>A | p.Arg838Gln | Missense |
9:5126715 | JAK2 | c.3323A>G | p.Asn1108Ser | Missense | |
17:7577580 | TP53 | c.701A>G | p.Tyr234Cys | Missense | |
17:37829120 | PGAP3 | c.900-1G>A | r.spl? | LOF: splice - acceptor | |
ULMS38 | 1:120458122 | NOTCH2 | c.7223T>A | p.Leu2408His | Missense |
6:51914991 | PKHD1 | c.2243C>T | p.Ala748Val | Missense | |
16:23646942 | PALB2 | c.925A>G | p.Ile309Val | Missense | |
17:5462805 | NLRP1 | c.1211G>A | p.Arg404Gln | Missense | |
17:37864584 | ERBB2 | c.236A>C | p.Glu79Ala | Missense | |
3:65425588 | MAGI1 | c.1234_1236delCAG | p.Gln421del | Inframe - deletion | |
19:17937659 | JAK3 | c.3268G>A | p.Ala1090Thr | Missense | |
ULMS39 | 3:188327501 | LPP | c.982C>T | p.Arg328Trp | Missense |
7:142562071 | EPHB6 | c.513_515delCTC | p.Ser176del | LOF: disruptive - inframe - del | |
17:7577545 | TP53 | c.736A>G | p.Met246Val | Missense | |
ULMS40 | 2:100218031 | AFF3 | c.1310_1312delGCA | p.Ser444del | LOF: disruptive - inframe - del |
ULMS40 | 11:108139268 | ATM | c.2770C>T | p.Arg924Trp | Missense |
17:7577120 | TP53 | c.818G>A | p.Arg273His | Missense | |
17:37881117 | ERBB2 | c.2446C>T | p.Arg816Cys | Missense | |
X:76891445 | ATRX | c.4660A>T | p.Arg1554Ter | LOF: stop - gained | |
ULMS45 | 3:128204775 | GATA2 | c.666G>C | p.Lys222Asn | Missense |
11:108160506 | ATM | c.4414T>G | p.Leu1472Val | Missense | |
12:121437187 | HNF1A | c.1618A>G | p.Lys540Glu | Missense | |
17:7578290 | TP53 | c.560-1G>C | r.spl? | LOF: splice - acceptor | |
16:2135281 | TSC2 | c.4620C>A | p.Tyr1540Ter | LOF: stop - gained | |
ULMS50b | 2:29432740 | ALK | c.3748A>G | p.Ile1250Val | Missense |
ULMS52 | 1:6528318 | PLEKHG5 | c.2815C>T | p.Arg939Cys | Missense |
1:120459251 | NOTCH2 | c.6094C>A | p.His2032Asn | Missense | |
9:139400980 | NOTCH1 | c.4013C>T | p.Ala1338Val | Missense | |
11:118377142 | KMT2A | c.10535C>T | p.Pro3512Leu | Missense | |
12:49416396 | KMT2D | c.16315C>T | p.Arg5439Trp | Missense | |
13:26978093 | CDK8 | c.1270C>T | p.Arg424Cys | Missense | |
16:2130319 | TSC2 | c.3551C>T | p.Ala1184Val | Missense | |
16:3779521 | CREBBP | c.5527T>C | p.Cys1843Arg | Missense | |
16:3790470 | CREBBP | c.4063G>A | p.Gly1355Arg | Missense | |
17:7574017 | TP53 | c.1010G>A | p.Arg337His | Missense | |
22:36678790 | MYH9 | c.5807G>A | p.Arg1936Gln | Missense | |
ULMS59 | 5:112173857 | APC | c.2566C>T | p.Arg856Cys | Missense |
6:135511289 | MYB | c.331G>A | p.Gly111Ser | Missense | |
6:135539101 | MYB | c.2269C>T | p.Arg757Trp | Missense | |
6:152832196 | SYNE1 | c.352C>T | p.Arg118Ter | LOF: stop - gained | |
7:2946463 | CARD11 | c.3274C>T | p.Arg1092Ter | LOF: stop - gained | |
18:22806393 | ZNF521 | c.1489C>T | p.Arg497Ter | LOF: stop - gained | |
18:47803035 | MBD1 | c.472C>T | p.Arg158Ter | LOF: stop - gained | |
20:57429026 | GNAS | c.706G>A | p.Asp236Asn | Missense | |
20:57480457 | GNAS | c.2381A>C | p.Lys794Thr | Missense | |
22:30069262 | NF2 | c.1127G>A | p.Arg376Gln | Missense | |
ESS2 (LG-ESS) | 6:152706896 | SYNE1 | c.8565G>A | p.Trp2855Ter | LOF: stop - gained |
11:108175463 | ATM | c.5558A>T | p.Asp1853Val | Missense | |
14:81610269 | TSHR | c.1867G>T | p.Ala623Ser | Missense | |
17:7577121 | TP53 | c.817C>T | p.Arg273Cys | Missense | |
17:7577139 | TP53 | c.799C>T | p.Arg267Trp | Missense | |
19:3119273 | GNA11 | c.805G>A | p.Val269Ile | Missense | |
22:41553308 | EP300 | c.3397C>T | p.Arg1133Trp | Missense | |
ESS3 | 1:145015874 | PDE4DIP | c.214C>T | p.Arg72Ter | LOF: stop - gained |
5:112154777 | APC | c.1048T>C | p.Ser350Pro | Missense | |
5:112162855 | APC | c.1459G>A | p.Gly487Arg | Missense | |
6:56328464 | DST | c.16429C>T | p.Arg5477Trp | Missense | |
12:49418436 | KMT2D | c.15977T>C | p.Leu5326Pro | Missense | |
17:7578176 | TP53 | c.672+1G>A | r.spl? | LOF: splice - donor | |
17:29556250 | NF1 | c.2617C>T | p.Arg873Cys | Missense | |
17:29677234 | NF1 | c.7355G>T | p.Arg2452Leu | Missense | |
ESS4 | 11:108141990 | ATM | c.2934delT | p.Leu979Cysfs | LOF: frameshift |
16:3820773 | CREBBP | c.2678C>T | p.Ser893Leu | Missense | |
ESS5 | 1:11217330 | MTOR | c.4348T>G | p.Tyr1450Asp | Missense |
14:51227050 | NIN | c.1924G>A | p.Glu642Lys | Missense | |
19:17937659 | JAK3 | c.3268G>A | p.Ala1090Thr | Missense | |
20:41101170 | PTPRT | c.1186G>A | p.Val396Ile | Missense | |
ESS7 | 6:33287248 | DAXX | c.1885G>A | p.Val629Ile | Missense |
6:117710646 | ROS1 | c.1626delT | p.Phe542Leufs | LOF: frameshift | |
14:95590677 | DICER1 | c.1232C>A | p.Ser411Ter | LOF: stop - gained | |
ESS7 | X:76939115 | ATRX | c.1633C>G | p.Gln545Glu | Missense |
ESS9 | 1:144906139 | PDE4DIP | c.2494delC | p.Gln832Argfs | LOF: frameshift |
1:145536012 | ITGA10 | c.2104G>A | p.Ala702Thr | Missense | |
3:178936091 | PIK3CA | c.1633G>A | p.Glu545Lys | Missense | |
4:55564641 | KIT | c.529C>T | p.Arg177Cys | Missense | |
4:55976709 | KDR | c.1116G>C | p.Glu372Asp | Missense | |
5:112175711 | APC | c.4420G>A | p.Ala1474Thr | Missense | |
5:180048651 | FLT4 | c.1911C>G | p.Ser637Arg | Missense | |
ESS58107 | 1:145015874 | PDE4DIP | c.214C>T | p.Arg72Ter | LOF: stop - gained |
1:145536012 | ITGA10 | c.2104G>A | p.Ala702Thr | Missense | |
2:142567932 | LRP1B | c.121G>A | p.Asp41Asn | Missense | |
4:153332477 | FBXW7 | c.479C>T | p.Pro160Leu | Missense | |
6:56328464 | DST | c.16429C>T | p.Arg5477Trp | Missense | |
6:135516944 | MYB | c.1007C>T | p.Thr336Ile | Missense | |
7:91570414 | AKAP9 | c.1A>G | p.Met1? | LOF: initiator - codon | |
17:7578176 | TP53 | c.672+1G>A | r.spl? | LOF: splice - donor | |
X:41056743 | USP9X | c.4360delG | p.Gly1454Glufs | LOF: frameshift | |
X:66863156 | AR | c.1675A>T | p.Thr559Ser | Missense | |
ADS2 | 1:162748436 | DDR2 | c.2350T>C | p.Cys784Arg | Missense |
2:25467477 | DNMT3A | c.1599C>A | p.Tyr533Ter | LOF: stop - gained | |
2:209110123 | IDH1 | c.440C>A | p.Pro147His | Missense | |
3:38182306 | MYD88 | c.766T>C | p.Phe256Leu | Missense | |
5:131927073 | RAD50 | c.1610delA | p.Met538Trpfs | LOF: frameshift | |
6:33288629 | DAXX | c.959A>G | p.Gln320Arg | Missense | |
6:93979315 | EPHA7 | c.1513C>A | p.Leu505Met | Missense | |
7:98501128 | TRRAP | c.1024G>T | p.Glu342Ter | LOF: stop - gained | |
8:48711786 | PRKDC | c.10279G>T | p.Glu3427Ter | LOF: stop - gained | |
9:98209391 | PTCH1 | c.4147C>A | p.Pro1383Thr | Missense | |
10:76781925 | KAT6B | c.3308_3310delAAG | p.Glu1104del | LOF: disruptive - inframe - del | |
11:106558436 | GUCY1A2 | c.2131G>T | p.Glu711Ter | LOF: stop - gained | |
15:90630454 | IDH2 | c.857A>G | p.Glu286Gly | Missense | |
16:2138078 | TSC2 | c.5098G>T | p.Ala1700Ser | Missense | |
22:29121048 | CHEK2 | c.638T>C | p.Val213Ala | Missense | |
X:53223847 | KDM5C | c.3512A>G | p.Lys1171Arg | Missense | |
ULM119 | 7:116403114 | MET | c.2429A>C | p.His810Pro | Missense |
22:39621795 | PDGFB | c.659dupA | p.Lys222Glnfs | LOF: frameshift | |
ULM143 | 1:11307996 | MTOR | c.995_996dupGG | p.Leu333Glyfs | LOF: frameshift |
9:32634260 | TAF1L | c.1318A>G | p.Ile440Val | Missense | |
19:17945696 | JAK3 | c.2164G>A | p.Val722Ile | Missense | |
ULM152 | 8:41791030 | KAT6A | c.4708G>A | p.Asp1570Asn | Missense |
11:118344893 | KMT2A | c.3019G>T | p.Gly1007Cys | Missense | |
19:1207176 | STK11 | c.263_264insC | p.Asn90Glnfs | LOF: frameshift |