Table 1.
Somatic non-silent variants were detected in the examined patients in an ectopic (ECT) or eutopic (EU) endometrial tissue. Localization and type of mutation were described in concordance to Human Genome Variation Society (HGVS) nomenclature (variants are described on protein and cDNA level, “*”—stop codon). The allele frequency from all populations in the Genome Aggregation Database (gnomAD) was provided.
| Sample | Gene | HGVS | gnomAD Allele Frequency |
|---|---|---|---|
| EEP001ECT | KCNH5 | NM_139318.4:p.Gly808Val/c.2423G > T | 0 |
| EEP001ECT | MITF | NM_198159.2:p.Ser258Leu/c.773C > T | 0.0000119 |
| EEP001ECT EEP001EU | HERC2 | NM_004667.5:p.Val3327Met/c.9979G > A | 0.0345 |
| EEP002ECT | KRAS | NM_033360.3:p.Gly12Asp/c.35G > A | 0.00000401 |
| EEP005ECT | ZNF804B | NM_181646.2:p.Glu1340Gln/c.4018G > C | 0 |
| EEP005ECT | CSMD3 | NM_198123.1:p.Thr1246Met/c.3737C > T | 0.0000639 |
| EEP005ECT | CSMD3 | NM_198123.1:c.8440 + 4C > T | 0 |
| EEP005ECT | NSD1 | NM_022455.4:p.His918Tyr/c.2752C > T | 0 |
| EEP005ECT | NCOA1 | NM_003743.4:p.Ala1081Val/c.3242C > T | 0 |
| EEP005ECT | MUC16 | NM_024690.2:p.Gly8417Val/c.25250G > T | 0 |
| EEP005ECT | SMOX | NM_001270691.1:p.Ala356Thr/c.1066G > A | 0 |
| EEP005ECT | EWSR1 | NM_013986.3:p.Gln146 */c.436C > T | 0 |
| EEP005ECT | NTRK2 | NM_006180.4:p.Glu634Asp/c.1902G > C | 0 |
| EEP005ECT | PRDM9 | NM_020227.2:p.Pro663Ser/c.1987C > T | 0 |
| EEP005EU | CASP8 | NM_001080125.1:p.Glu71Gly/c.212A > G | 0 |
| EEP005EU | PSIP1 | NM_001128217.1:p.Leu368Arg/c.1103T > G | 0 |
| EEP005EU | DNAH7 | NM_018897.2:p.Gly91Val/c.272G > T | 0 |
| EEP005EU | FANCD2 | NM_033084.3:p.Lys871Asn/c.2613A > C | 0.000204 |
| EEP005ECT EEP005EU | JAK2 | NM_004972.3:p.Pro500_Pro501fs/c.1498_1499insC | 0 |
| EEP006ECT | ATRX | NM_000489.4:p.Gln1551 */c.4651C > T | 0 |
| EEP006ECT | KTN1 | NM_001079521.1:p.Pro992_Pro993fs/c.2974_2975insC | 0 |
| EEP006ECT | CNOT1 | NM_016284.4:p.Pro1254Ser/c.3760C > T | 0.00000399 |
| EEP006ECT | CHD2 | NM_001271.3:c.-228T > C | 0 |
| EEP008ECT | BRIP1 | NM_032043.2:p.Arg579His/c.1736G > A | 0.0000278 |
| EEP008EU | AR | NM_000044.3:p.Glu710Lys/c.2128G > A | 0 |
| EEP008EU | DMD | NM_004006.2:p.Gly3235Asp/c.9704G > A | 0 |
| EEP008EU | EPCAM | NM_002354.2:p.Gly79Trp/c.235G > T | 0 |
| EEP008EU | SMC3 | NM_005445.3:p.Gly531Cys/c.1591G > T | 0 |
| EEP008EU | SYNE2 | NM_182914.2:p.Leu6190Ile/c.18568C > A | 0 |
| EEP009ECT | TP53 | NM_000546.5:p.Glu271Lys/c.811G > A | 0 |
| EEP009EU | COL1A1 | NM_000088.3:p.Gly209Asp/c.626G > A | 0 |
| EEP009EU | DSCAM | NM_001389.3:p.Val1261Leu/c.3781G > C | 0.0000201 |
| EEP010ECT | PKD1L1 | NM_138295.3:p.Gln122_Leu125del/c.363_374delACAGGCGCCTCT | 0 |
| EEP010ECT | ABL2 | NM_007314.3:p.Ala114Glu/c.341C > A | 0 |
| EEP010EU | ETV5 | NM_004454.2:p.Tyr429_Tyr430fs/c.1286_1287insA | 0 |
| EEP010EU | KDM6A | NM_021140.3:c.619 + 1_619 + 2delAAGT | 0 |
| EEP012ECT | RYR1 | NM_000540.2:p.Thr1406Met/c.4217C > T | 0.0000442 |
| EEP012EU | AURKAIP1 | NM_001127230.1:p.Ser72Arg/c.216C > A | 0 |
| EEP012EU | OBSCN | NM_001271223.2:p.Ala809Val/c.2426C > T | 0.0000487 |
| EEP012EU | HIP1 | NM_005338.6:c.2466-4G > A | 0 |
| EEP014EU | FBN1 | NM_000138.4:c.5788 + 7G > T | 0 |
| EEP014EU | SORCS1 | NM_001013031.2:p.Val722Ala/c.2165T > C | 0 |
| EEP015ECT | ERBB3 | NM_001982.3:p.Gly325Arg/c.973G > A | 0 |
| EEP015EU | LAMA2 | NM_000426.3:p.Arg2604 */c.7810C > T | 0.00000797 |
| EEP015EU | MYO3A | NM_017433.4:p.Thr1501Lys/c.4502C > A | 0 |
| EEP015EU | RNASEL | NM_021133.3:p.Ala99Thr/c.295G > A | 0 |
| EEP015EU | RYR1 | NM_000540.2:p.Gln240His/c.720G > T | 0 |
| EEP015EU | DNAH7 | NM_018897.2:p.Ala1578Asp/c.4733C > A | 0 |
| EEP015EU | CTNNA1 | NM_001903.3:c.1063-10834C > A | 0 |
| EEP015EU | PTCH1 | NM_000264.3:p.Ser764Gly/c.2290A > G | 0 |
| EEP015EU | FAT3 | NM_001008781.2:p.Ser2776Asn/c.8327G > A | 0 |
| EEP015EU | ATRX | NM_000489.4:p.Val194Ala/c.581T > C | 0 |
| EEP015EU | KLHL6 | NM_130446.2:p.Arg308His/c.923G > A | 0.000299 |
| EEP015ECT EEP015EU | DYSF | NM_003494.3:p.Arg1041Cys/c.3121C > T | 0.000168 |
| EEP015ECT EEP015EU | TROAP | NM_005480.3:p.Ala235Asp/c.704C > A | 0.0000398 |
| EEP016ECT | MTUS2 | NM_001033602.2:p.Arg468Gln/c.1403G > A | 0.00075 |
| EEP016EU | PIK3C2B | NM_002646.3:p.Val685Ile/c.2053G > A | 0.0000837 |
| EEP016EU | PTK2 | NM_005607.4:p.Pro857Leu/c.2570C > T | 0 |
| EEP017EU | USP24 | NM_015306.2:p.Ala909Val/c.2726C > T | 0 |